format-version: 1.2
date: 11:04:2025 04:27
default-namespace: uniprot:diseases
[Term]
id: DI-00001
name: HSD10 mitochondrial disease
def: "An X-linked multisystemic disorder with highly variable severity. Age at onset ranges from the neonatal period to early childhood. Features include progressive neurodegeneration, psychomotor retardation, loss of mental and motor skills, seizures, cardiomyopathy, and visual and hearing impairment. Some patients manifest lactic acidosis and metabolic acidosis." []
synonym: "17-beta-hydroxysteroid dehydrogenase X deficiency" [UniProt]
synonym: "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency" [UniProt]
synonym: "3-hydroxyacyl-CoA dehydrogenase II deficiency" [UniProt]
synonym: "3-hydroxyacyl-CoA dehydrogenase type 2 deficiency" [UniProt]
synonym: "3-hydroxyacyl-CoA dehydrogenase type II deficiency" [UniProt]
synonym: "3-hydroxyacyl-CoA dehydrogenase type-2 deficiency" [UniProt]
synonym: "CAMR" [UniProt]
synonym: "HSD17B10 deficiency" [UniProt]
synonym: "MHBD deficiency" [UniProt]
synonym: "MRXS10" [UniProt]
xref: MedGen:C1845517
xref: MeSH:D020739
xref: MIM:300438 "phenotype"
[Term]
id: DI-00002
name: 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency
def: "An autosomal recessive, metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death." []
synonym: "HAD deficiency" [UniProt]
synonym: "Hydroxyacyl-coenzyme A dehydrogenase deficiency" [UniProt]
synonym: "SCHAD deficiency" [UniProt]
xref: MedGen:C1291230
xref: MeSH:D008659
xref: MIM:231530 "phenotype"
[Term]
id: DI-00003
name: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
def: "An autosomal recessive disease affecting ketogenesis and L-leucine catabolism. The disease usually appears in the first year of life after a fasting period and its clinical acute symptoms include vomiting, seizures, metabolic acidosis, hypoketotic hypoglycemia and lethargy. These symptoms sometimes progress to coma, with fatal outcome in some cases." []
synonym: "HL deficiency" [UniProt]
synonym: "HMG-CoA lyase deficiency" [UniProt]
synonym: "HMGCL deficiency" [UniProt]
synonym: "Hydroxymethylglutaric aciduria" [UniProt]
synonym: "Hydroxymethylglutaricaciduria" [UniProt]
xref: MedGen:C0268601
xref: MeSH:D000592
xref: MIM:246450 "phenotype"
[Term]
id: DI-00004
name: 3-methylglutaconic aciduria 1
def: "An inborn error of leucine metabolism. It leads to an autosomal recessive syndrome with variable clinical phenotype, ranging from delayed speech development to severe psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia. MGCA1 can be distinguished from other forms of MGCA by the pattern of metabolite excretion: 3-methylglutaconic acid levels are higher than those detected in other forms, whereas methylglutaric acid levels are usually only slightly elevated and there is a high level of 3- hydroxyisovaleric acid excretion (not present in other MGCA forms)." []
synonym: "3-alpha-methylglutaconic aciduria type 1" [UniProt]
synonym: "3-alpha-methylglutaconyl-CoA hydratase deficiency" [UniProt]
synonym: "3-methylglutaconyl-CoA hydratase deficiency" [UniProt]
synonym: "3MG-CoA hydratase deficiency" [UniProt]
synonym: "MGA type I" [UniProt]
synonym: "MGA1" [UniProt]
xref: MedGen:C0342727
xref: MeSH:D000592
xref: MIM:250950 "phenotype"
[Term]
id: DI-00005
name: Barth syndrome
def: "An X-linked disease characterized by dilated cardiomyopathy with endocardial fibroelastosis, a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid. Additional features include hypertrophic cardiomyopathy, isolated left ventricular non- compaction, ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia, and dramatic late catch-up growth after growth delay throughout childhood." []
synonym: "3-alpha-methylglutaconic aciduria type 2" [UniProt]
synonym: "3-methylglutaconic aciduria type 2" [UniProt]
synonym: "3-methylglutaconic aciduria type II" [UniProt]
synonym: "AGM2" [UniProt]
synonym: "Cardioskeletal myopathy with neutropenia and abnormal mitochondria" [UniProt]
synonym: "Cardioskeletal myopathy-neutropenia" [UniProt]
synonym: "INVM" [UniProt]
synonym: "Left ventricular non-compaction isolated X-linked" [UniProt]
synonym: "MGA type II" [UniProt]
synonym: "MGA2" [UniProt]
synonym: "MGCA2" [UniProt]
synonym: "Non-compaction of left ventricular myocardium isolated X-linked" [UniProt]
xref: MedGen:C0574083
xref: MeSH:D056889
xref: MIM:302060 "phenotype"
[Term]
id: DI-00006
name: 3-methylglutaconic aciduria 3
def: "An autosomal recessive metabolic disorder that causes a neuro- ophthalmologic syndrome consisting of early-onset bilateral optic atrophy, spasticity, extrapyramidal dysfunction and cognitive deficit. Urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid is increased. MGCA3 can be distinguished from MGCA1 by the absence of increase of 3-hydroxyisovaleric acid levels." []
synonym: "3-alpha-methylglutaconic aciduria type 3" [UniProt]
synonym: "Costeff optic atrophy syndrome" [UniProt]
synonym: "Costeff syndrome" [UniProt]
synonym: "MGA type III" [UniProt]
synonym: "MGA3" [UniProt]
synonym: "Optic atrophy 3 autosomal recessive" [UniProt]
synonym: "Optic atrophy plus syndrome" [UniProt]
xref: MedGen:C0574084
xref: MeSH:D015418
xref: MIM:258501 "phenotype"
[Term]
id: DI-00007
name: 3-methylglutaconic aciduria 5
def: "An autosomal recessive disorder characterized by early-onset dilated cardiomyopathy, growth failure, cerebellar ataxia causing significant motor delays, testicular dysgenesis, growth failure and significant increases in urine organic acids, particularly 3-methylglutaconic acid and 3-methylglutaric acid." []
synonym: "3-alpha-methylglutaconic aciduria type 5" [UniProt]
synonym: "DCMA" [UniProt]
synonym: "Dilated cardiomyopathy with ataxia" [UniProt]
synonym: "MGA type V" [UniProt]
synonym: "MGA5" [UniProt]
xref: MedGen:C1857776
xref: MeSH:D002311
xref: MIM:610198 "phenotype"
[Term]
id: DI-00008
name: Rickets vitamin D-dependent 1B
def: "An autosomal recessive disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets. The patients sera have low calcium concentrations, low phosphate concentrations, elevated alkaline phosphatase activity and low levels of 25-hydroxyvitamin D." []
synonym: "25-hydroxyvitamimn D3 deficiency selective" [UniProt]
synonym: "25-hydroxyvitamin D(3) deficiency" [UniProt]
synonym: "Pseudovitamin D(3) deficiency rickets due to 25-hydroxylase deficiency" [UniProt]
synonym: "Selective 25-hydroxyvitamin D(3) deficiency" [UniProt]
xref: MedGen:C1838657
xref: MeSH:D012279
xref: MIM:600081 "phenotype"
[Term]
id: DI-00009
name: 3-ketothiolase deficiency
def: "An autosomal recessive inborn error of isoleucine catabolism characterized by intermittent ketoacidotic attacks associated with unconsciousness. Some patients die during an attack or are mentally retarded. Urinary excretion of 2-methyl-3-hydroxybutyric acid, 2- methylacetoacetic acid, triglylglycine, butanone is increased. It seems likely that the severity of this disease correlates better with the environmental or acquired factors than with the ACAT1 genotype." []
synonym: "Alpha-methylacetoaceticaciduria" [UniProt]
xref: MedGen:C1536500
xref: MeSH:D000592
xref: MIM:203750 "phenotype"
[Term]
id: DI-00010
name: Phosphoserine phosphatase deficiency
def: "An autosomal recessive disorder that results in pre- and postnatal growth retardation, moderate psychomotor retardation and facial features suggestive of Williams syndrome." []
xref: MedGen:C1291463
xref: MeSH:D000592
xref: MIM:614023 "phenotype"
[Term]
id: DI-00011
name: 3M syndrome 1
def: "An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies." []
synonym: "3M syndrome-1" [UniProt]
synonym: "Dolichospondylic dysplasia" [UniProt]
synonym: "Gloomy face syndrome" [UniProt]
synonym: "Le Merrer syndrome" [UniProt]
synonym: "Miller-McKusick-Malvaux syndrome" [UniProt]
synonym: "Three M syndrome" [UniProt]
synonym: "Three M syndrome 1" [UniProt]
synonym: "Yakut short stature syndrome" [UniProt]
xref: MedGen:C1848862
xref: MedGen:C2678312
xref: MeSH:D004392
xref: MIM:273750 "phenotype"
[Term]
id: DI-00012
name: Aarskog-Scott syndrome
def: "An X-linked recessive, rare multisystemic disorder characterized by disproportionately short stature, and by facial, skeletal and urogenital anomalies. Some patients manifest intellectual disability, attention deficit disorder and hyperactivity." []
synonym: "Faciodigitogenital syndrome" [UniProt]
synonym: "Faciogenital dysplasia" [UniProt]
synonym: "Faciogenital dysplasia with attention deficit-hyperactivity disorder" [UniProt]
xref: MedGen:C0175701
xref: MedGen:C1844569
xref: MedGen:C3275558
xref: MedGen:CN069557
xref: MeSH:D001289
xref: MIM:305400 "phenotype"
[Term]
id: DI-00013
name: ABCD syndrome
def: "An autosomal recessive syndrome characterized by albinism, black lock at temporal occipital region, bilateral deafness, aganglionosis of the large intestine and total absence of neurocytes and nerve fibers in the small intestine." []
synonym: "Albinism, black lock, cell migration disorder of the neurocytes of the gut and deafness" [UniProt]
xref: MedGen:C1838099
xref: MedGen:C3179507
xref: MeSH:D014849
xref: MIM:600501 "phenotype"
[Term]
id: DI-00014
name: Abetalipoproteinemia
def: "An autosomal recessive disorder of lipoprotein metabolism. Affected individuals produce virtually no circulating apolipoprotein B- containing lipoproteins (chylomicrons, VLDL, LDL, lipoprotein(A)). Malabsorption of the antioxidant vitamin E occurs, leading to spinocerebellar and retinal degeneration." []
synonym: "Acanthocytosis" [UniProt]
synonym: "Bassen-Kornzweig syndrome" [UniProt]
synonym: "Microsomal triglyceride transfer protein deficiency" [UniProt]
synonym: "MTP deficiency" [UniProt]
xref: MedGen:C0000744
xref: MeSH:D000012
xref: MIM:200100 "phenotype"
[Term]
id: DI-00015
name: Thyroid hormone metabolism, abnormal, 1
def: "A disorder associated with a reduction in type II iodothyronine deiodinase activity." []
synonym: "THMA" [UniProt]
synonym: "Thyroid hormone metabolism, abnormal" [UniProt]
xref: MedGen:C1864761
xref: MeSH:D013959
xref: MIM:609698 "phenotype"
[Term]
id: DI-00016
name: Acatalasemia
def: "A metabolic disorder characterized by a total or near total loss of catalase activity in red cells. It is often associated with ulcerating oral lesions. Acatalasemia is inherited as an autosomal recessive trait." []
synonym: "Acatalasia" [UniProt]
synonym: "Catalase deficiency" [UniProt]
synonym: "Takahara disease" [UniProt]
synonym: "Takahara's disease" [UniProt]
xref: MedGen:C0268419
xref: MeSH:D020642
xref: MIM:614097 "phenotype"
[Term]
id: DI-00017
name: Aceruloplasminemia
def: "An autosomal recessive disorder of iron metabolism characterized by iron accumulation in the brain as well as visceral organs. Clinical features consist of the triad of retinal degeneration, diabetes mellitus and neurological disturbances." []
synonym: "Ceruloplasmin deficiency" [UniProt]
synonym: "NBIA10" [UniProt]
synonym: "Neurodegeneration with brain iron accumulation 10" [UniProt]
xref: MedGen:C0878682
xref: MedGen:C1858582
xref: MedGen:C1858583
xref: MeSH:D019189
xref: MIM:604290 "phenotype"
[Term]
id: DI-00018
name: Achalasia-addisonianism-alacrima syndrome
def: "An autosomal recessive disorder characterized by adreno-corticotropic hormone (ACTH)-resistant adrenal failure, achalasia of the esophageal cardia and alacrima. The syndrome is associated with variable and progressive neurological impairment involving the central, peripheral, and autonomic nervous system. Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present." []
synonym: "ACTH-resistant adrenal insufficiency with achalasia and alacrima" [UniProt]
synonym: "Addisonian-achalasia syndrome" [UniProt]
synonym: "Alacrima-achalasia-addisonianism" [UniProt]
synonym: "Alacrima-achalasia-adrenal insufficiency neurologic disorder" [UniProt]
synonym: "Allgrove syndrome" [UniProt]
synonym: "Allgrove's syndrome" [UniProt]
synonym: "Glucocorticoid deficiency and achalasia" [UniProt]
synonym: "Hypoadrenalism with achalasia" [UniProt]
synonym: "Triple-A syndrome" [UniProt]
xref: MedGen:C0271742
xref: MedGen:C1856419
xref: MedGen:C2931084
xref: MeSH:D000309
xref: MIM:231550 "phenotype"
[Term]
id: DI-00019
name: Achondrogenesis 1B
def: "A form of achondrogenesis type 1, a lethal form of chondrodysplasia characterized by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. ACG1B is an autosomal recessive disease." []
synonym: "ACG-IB" [UniProt]
synonym: "Achondrogenesis Fraccaro type" [UniProt]
synonym: "Achondrogenesis type IB" [UniProt]
synonym: "Fraccaro achondrogenesis" [UniProt]
xref: MedGen:C0265274
xref: MeSH:D010009
xref: MIM:600972 "phenotype"
[Term]
id: DI-00020
name: Achondrogenesis 2
def: "An autosomal dominant disease characterized by the absence of ossification in the vertebral column, sacrum and pubic bones." []
synonym: "ACG-II" [UniProt]
synonym: "Achondrogenesis Langer-Saldino type" [UniProt]
synonym: "Achondrogenesis type II" [UniProt]
synonym: "Achondrogenesis-hypochondrogenesis type II" [UniProt]
xref: MedGen:C0220685
xref: MedGen:C0542428
xref: MeSH:D010009
xref: MIM:200610 "phenotype"
[Term]
id: DI-00021
name: Achondroplasia
def: "A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. ACH is an autosomal dominant disease." []
xref: MedGen:C0001080
xref: MeSH:D000130
xref: MIM:100800 "phenotype"
[Term]
id: DI-00022
name: Achromatopsia 2
def: "An autosomal recessive, ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus." []
synonym: "Complete achromatopsia" [UniProt]
synonym: "RMCH2" [UniProt]
synonym: "Rod monochromacy 2" [UniProt]
synonym: "Rod monochromatism 2" [UniProt]
synonym: "Total colorblindness" [UniProt]
xref: MedGen:C1857618
xref: MeSH:D003117
xref: MIM:216900 "phenotype"
[Term]
id: DI-00023
name: Achromatopsia 3
def: "An autosomal recessive, ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. Achromatopsia type 3 patients manifest severe myopia." []
synonym: "Achromatopsia with myopia" [UniProt]
synonym: "Pingelapese blindness" [UniProt]
synonym: "Total colorblindness with myopia" [UniProt]
xref: MedGen:C1849792
xref: MeSH:D003117
xref: MIM:262300 "phenotype"
[Term]
id: DI-00025
name: Acrocallosal syndrome
def: "An autosomal recessive syndrome characterized by hypogenesis or agenesis of the corpus callosum. Clinical features include postaxial polydactyly, hallux duplication, macrocephaly, craniofacial abnormalities, severe developmental delay and intellectual disability." []
synonym: "Hallux duplication postaxial polydactyly and absence of corpus callosum" [UniProt]
synonym: "Schinzel acrocallosal syndrome" [UniProt]
xref: MedGen:C0796147
xref: MedGen:C2931760
xref: MeSH:D055673
xref: MIM:200990 "phenotype"
[Term]
id: DI-00026
name: Acrocapitofemoral dysplasia
def: "An autosomal recessive disorder characterized by short stature of variable severity with postnatal onset. The most constant radiographic abnormalities are observed in the tubular bones of the hands and in the proximal part of the femur. Cone-shaped epiphyses or a similar epiphyseal configuration with premature epimetaphyseal fusion result in shortening of the skeletal components involved. Cone-shaped epiphyses are also present to a variable extent at the shoulders, knees and ankles." []
xref: MedGen:C1843096
xref: MeSH:D001848
xref: MeSH:D017880
xref: MIM:607778 "phenotype"
[Term]
id: DI-00027
name: Acrodermatitis enteropathica, zinc-deficiency type
def: "A rare autosomal recessive disease caused by the inability to absorb sufficient zinc. The clinical features are growth retardation, immune- system dysfunction, alopecia, severe dermatitis, diarrhea and occasionally mental disorders." []
xref: MedGen:C0221036
xref: MeSH:D000169
xref: MIM:201100 "phenotype"
[Term]
id: DI-00028
name: Acro-dermato-ungual-lacrimal-tooth syndrome
def: "A form of ectodermal dysplasia. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. ADULT syndrome involves ectrodactyly, syndactyly, finger- and toenail dysplasia, hypoplastic breasts and nipples, intensive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia and loss of permanent teeth. ADULT syndrome differs significantly from EEC3 syndrome by the absence of facial clefting. Inheritance is autosomal dominant." []
xref: MedGen:C1863204
xref: MeSH:D004476
xref: MIM:103285 "phenotype"
[Term]
id: DI-00029
name: Acrofacial dysostosis, Weyers type
def: "An autosomal dominant condition characterized by dysplastic nails, postaxial polydactyly, dental anomalies, short limbs, short stature and normal intelligence. The phenotype is milder than Ellis-van Creveld syndrome." []
synonym: "Acrodental dysostosis of Weyers" [UniProt]
synonym: "Curry-Hall syndrome" [UniProt]
synonym: "Weyers acrofacial dysostosis" [UniProt]
xref: MedGen:C0457013
xref: MeSH:D004413
xref: MIM:193530 "phenotype"
[Term]
id: DI-00030
name: Acrokeratosis verruciformis
def: "A localized disorder of keratinization, which is inherited as an autosomal dominant trait. Its onset is early in life with multiple flat-topped, flesh-colored papules on the hands and feet, punctate keratoses on the palms and soles, with varying degrees of nail involvement. The histopathology shows a distinctive pattern of epidermal features with hyperkeratosis, hypergranulosis and acanthosis together with papillomatosis. These changes are frequently associated with circumscribed elevations of the epidermis that are said to resemble church spires. There are no features of dyskeratosis or acantholysis, the typical findings in lesions of Darier disease." []
synonym: "Hopf disease" [UniProt]
xref: MedGen:C0265971
xref: MeSH:D007642
xref: MIM:101900 "phenotype"
[Term]
id: DI-00031
name: Acromesomelic dysplasia 2A
def: "A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD2A is an autosomal recessive form characterized by normal axial skeletons and missing or fused skeletal elements within the hands and feet." []
synonym: "Achondrogenesis, Brazilian" [UniProt]
synonym: "Achondrogenesis, type II" [UniProt]
synonym: "Acromesomelic chondrodysplasia, Grebe type" [UniProt]
synonym: "AMDG" [UniProt]
synonym: "Grebe chondrodysplasia" [UniProt]
synonym: "Grebe dysplasia" [UniProt]
xref: MedGen:C0265260
xref: MeSH:D004392
xref: MIM:200700 "phenotype"
[Term]
id: DI-00032
name: Acromesomelic dysplasia 2C
def: "A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD2C is an autosomal recessive form characterized by skeletal abnormalities restricted to the limbs. The craniofacial skeleton and axial skeletal structures are normal." []
synonym: "Acromesomelic chondrodysplasia, Hunter-Thompson type" [UniProt]
synonym: "AMDH" [UniProt]
xref: MedGen:CN028907
xref: MeSH:D004392
xref: MIM:201250 "phenotype"
[Term]
id: DI-00033
name: Acromesomelic dysplasia 3
def: "A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD3 is an autosomal recessive form characterized by bilateral aplasia of the fibula, severe brachydactyly, and fusion of carpal and tarsal bones." []
synonym: "Acromesomelic chondrodysplasia, with genital anomalies" [UniProt]
synonym: "Acromesomelic dysplasia, Demirhan type" [UniProt]
synonym: "AMDD" [UniProt]
synonym: "Chondrodysplasia, acromesomelic, with or without genital anomalies" [UniProt]
xref: MedGen:C1836182
xref: MeSH:D004392
xref: MeSH:D010009
xref: MIM:609441 "phenotype"
[Term]
id: DI-00034
name: Acromesomelic dysplasia 1
def: "A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD1 is an autosomal recessive form characterized by axial skeletal involvement with wedging of vertebral bodies. All skeletal elements are present but show abnormal rates of linear growth." []
synonym: "Acromesomelic dysplasia, Maroteaux type" [UniProt]
synonym: "AMDM" [UniProt]
synonym: "St. Helena dysplasia" [UniProt]
xref: MedGen:C0265278
xref: MedGen:C1864356
xref: MeSH:D004392
xref: MIM:602875 "phenotype"
[Term]
id: DI-00035
name: ACTH deficiency, isolated
def: "An autosomal recessive disorder that is characterized by adrenal insufficiency symptoms, such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting and low blood pressure (hypotension). The pituitary hormone ACTH is decreased or absent, and other cortisol and other steroid hormone levels in the blood are abnormally low." []
synonym: "Adrenocorticotropic hormone deficiency" [UniProt]
xref: MedGen:C0271583
xref: MedGen:C0342388
xref: MeSH:D007018
xref: MIM:201400 "phenotype"
[Term]
id: DI-00036
name: Acute hepatic porphyria
def: "A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AHP is characterized by attacks of gastrointestinal disturbances, abdominal colic, paralyses and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors." []
synonym: "ALAD deficiency" [UniProt]
synonym: "Delta-aminolevulinate dehydratase deficiency" [UniProt]
synonym: "Doss porphyria" [UniProt]
synonym: "Porphobilinogen synthase deficiency" [UniProt]
synonym: "Porphyria ALAD" [UniProt]
xref: MedGen:C0268328
xref: MedGen:C2748608
xref: MeSH:D017094
xref: MIM:612740 "phenotype"
[Term]
id: DI-00037
name: Acute intermittent porphyria
def: "A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AIP is an autosomal dominant form of hepatic porphyria characterized by attacks of gastrointestinal disturbances, abdominal colic, with neurological dysfunctions, hypertension, tachycardia and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors." []
synonym: "PBGD deficiency" [UniProt]
synonym: "Porphobilinogen deaminase deficiency" [UniProt]
synonym: "Porphyria, Swedish type" [UniProt]
synonym: "UPS deficiency" [UniProt]
synonym: "Uroporphyrinogen synthase deficiency" [UniProt]
xref: MedGen:C0162565
xref: MedGen:C0268322
xref: MedGen:C0311292
xref: MedGen:C1867969
xref: MedGen:C2936779
xref: MeSH:D017118
xref: MIM:176000 "phenotype"
[Term]
id: DI-00038
name: Adenosine monophosphate deaminase deficiency erythrocyte type
def: "A metabolic disorder due to lack of activity of the erythrocyte isoform of AMP deaminase. It is a clinically asymptomatic condition characterized by a 50% increase in steady-state levels of ATP in affected cells. Individuals with complete deficiency of erythrocyte AMP deaminase are healthy and have no hematologic disorders." []
synonym: "AMP deaminase deficiency erythrocyte type" [UniProt]
synonym: "Erythrocyte AMP deaminase deficiency" [UniProt]
xref: MedGen:C2752073
xref: MeSH:D008659
xref: MIM:612874 "phenotype"
[Term]
id: DI-00039
name: Myopathy due to myoadenylate deaminase deficiency
def: "A metabolic disorder resulting in exercise-related myopathy. It is characterized by exercise-induced muscle aches, cramps, and early fatigue." []
synonym: "Adenosine monophosphate deaminase deficiency muscle type" [UniProt]
synonym: "AMP deaminase deficiency muscle type" [UniProt]
synonym: "AMPD1 deficiency" [UniProt]
synonym: "MAD deficiency" [UniProt]
synonym: "Myoadenylate deaminase deficiency" [UniProt]
xref: MedGen:C0268123
xref: MedGen:C3714933
xref: MeSH:D008661
xref: MIM:615511 "phenotype"
[Term]
id: DI-00040
name: Adenylosuccinase deficiency
def: "An autosomal recessive disorder characterized by the accumulation in the body fluids of succinylaminoimidazole-carboxamide riboside (SAICA- riboside) and succinyladenosine (S-Ado). Most children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less profoundly retarded. Occasionally, growth retardation and muscular wasting are also present." []
synonym: "Adenylosuccinate lyase deficiency" [UniProt]
synonym: "ADSL deficiency" [UniProt]
xref: MedGen:C0268126
xref: MeSH:D011686
xref: MIM:103050 "phenotype"
[Term]
id: DI-00041
name: Adiponectin deficiency
def: "An autosomal dominant condition characterized by very low concentrations of plasma adiponectin. Levels of adiponectin are decreased in obesity and may contribute to a chronic state of inflammation that leads to insulin resistance, type 2 diabetes, coronary artery disease, myocardial infarction, non-alcoholic steatohepatitis, and kidney disease." []
xref: MedGen:C2675517
xref: MedGen:C2675518
xref: MedGen:C2675519
xref: MeSH:D003924
xref: MeSH:D009765
xref: MIM:612556 "phenotype"
[Term]
id: DI-00042
name: Adrenal hyperplasia 2
def: "A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic). In AH2, virilization is much less marked or does not occur. AH2 is frequently lethal in early life." []
synonym: "3-beta-HSD deficiency" [UniProt]
synonym: "3-beta-hydroxysteroid dehydrogenase type II deficiency" [UniProt]
synonym: "Adrenal hyperplasia type II" [UniProt]
synonym: "Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency" [UniProt]
synonym: "AH-II" [UniProt]
synonym: "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase type II deficiency" [UniProt]
xref: MedGen:C0342471
xref: MeSH:D000312
xref: MIM:201810 "phenotype"
[Term]
id: DI-00043
name: Adrenal hyperplasia 3
def: "A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic)." []
synonym: "Adrenal hyperplasia type III" [UniProt]
synonym: "AH-III" [UniProt]
synonym: "CAH1" [UniProt]
synonym: "Congenital adrenal hyperplasia 1" [UniProt]
synonym: "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency" [UniProt]
synonym: "Hyperandrogenism nonclassic type due to 21-hydroxylase deficiency" [UniProt]
xref: MedGen:C0852654
xref: MedGen:C1859995
xref: MedGen:C2936858
xref: MeSH:D000312
xref: MIM:201910 "phenotype"
[Term]
id: DI-00044
name: Adrenal hyperplasia 4
def: "A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic)." []
synonym: "Adrenal hyperplasia type IV" [UniProt]
synonym: "AH-IV" [UniProt]
synonym: "Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency" [UniProt]
xref: MedGen:C0268292
xref: MeSH:D000312
xref: MIM:202010 "phenotype"
[Term]
id: DI-00045
name: Adrenal hyperplasia 5
def: "A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic)." []
synonym: "Adrenal hyperplasia type V" [UniProt]
synonym: "AH-V" [UniProt]
synonym: "Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency" [UniProt]
xref: MedGen:C0268285
xref: MedGen:C2242824
xref: MedGen:C3277849
xref: MedGen:C3277851
xref: MeSH:D000312
xref: MIM:202110 "phenotype"
[Term]
id: DI-00046
name: Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis
def: "A disease characterized by the association of Antley-Bixler syndrome with steroidogenesis defects and abnormal genitalia. Antley-Bixler syndrome is characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures." []
synonym: "Antley-Bixler syndrome-like phenotype with disordered steroidogenesis" [UniProt]
synonym: "Cytochrome P450 oxidoreductase deficiency" [UniProt]
synonym: "POR deficiency" [UniProt]
xref: MedGen:C1860042
xref: MedGen:C3150099
xref: MeSH:D054882
xref: MIM:201750 "phenotype"
[Term]
id: DI-00048
name: Peroxisome biogenesis disorder 2B
def: "A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid." []
synonym: "Peroxisome biogenesis disorder 2B (NALD/IRD)" [UniProt]
synonym: "Peroxisome biogenesis disorder 2B (neonatal adrenoleukodystrophy/infantile Refsum disease)" [UniProt]
xref: MedGen:C0282525
xref: MedGen:C3550234
xref: MeSH:D052919
xref: MIM:202370 "phenotype"
[Term]
id: DI-00049
name: Adrenoleukodystrophy, pseudoneonatal
def: "A peroxisomal single-enzyme disorder of fatty acid beta-oxidation, resulting in clinical manifestations that remind neonatal adrenoleukodystrophy. Clinical features include intellectual disability, leukodystrophy, seizures, mild hepatomegaly, hearing deficit. Pseudo-NALD is characterized by increased plasma levels of very-long chain fatty acids, due to decreased or absent peroxisome acyl-CoA oxidase activity. Peroxisomes are intact and functioning." []
synonym: "Peroxisomal acyl-CoA oxidase deficiency" [UniProt]
xref: MedGen:C1849678
xref: MeSH:D000326
xref: MIM:264470 "phenotype"
[Term]
id: DI-00050
name: Adrenoleukodystrophy
def: "A peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and 'Addison disease only' (ADO) phenotype." []
synonym: "Addison disease and cerebral sclerosis" [UniProt]
synonym: "Adrenomyeloneuropathy" [UniProt]
synonym: "AMN" [UniProt]
synonym: "Bronze Schilder disease" [UniProt]
synonym: "Melanodermic leukodystrophy" [UniProt]
synonym: "Siemerling-Creutzfeldt disease" [UniProt]
xref: MedGen:C0162309
xref: MedGen:C1527231
xref: MedGen:C2931920
xref: MeSH:D000326
xref: MIM:300100 "phenotype"
[Term]
id: DI-00051
name: Macular dystrophy, vitelliform, 3
def: "A form of vitelliform macular dystrophy, a retinal disease characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted disease of decreased visual acuity." []
synonym: "Adult-onset foveomacular dystrophy" [UniProt]
synonym: "Adult-onset vitelliform macular dystrophy" [UniProt]
synonym: "AOFMD" [UniProt]
synonym: "AVMD" [UniProt]
synonym: "Foveomacular dystrophy, adult-onset, with or without choroidal neovascularization" [UniProt]
xref: MedGen:C1842914
xref: MeSH:D057826
xref: MIM:608161 "phenotype"
[Term]
id: DI-00052
name: Polyglucosan body neuropathy, adult form
def: "A late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of APBN is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes." []
synonym: "Adult polyglucosan body disease" [UniProt]
synonym: "APBD" [UniProt]
synonym: "Polyglucosan body disease, adult form" [UniProt]
xref: MedGen:C1849722
xref: MeSH:D009422
xref: MIM:263570 "phenotype"
[Term]
id: DI-00053
name: Intellectual developmental disorder, X-linked, syndromic 28
def: "An intellectual disability syndrome characterized by agenesis of the corpus callosum, coloboma of the iris and optic nerve, severe retrognathia, and intellectual deficit. Intellectual disability is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
synonym: "Agenesis of the corpus callosum with impaired intellectual development, ocular coloboma and micrognathia" [UniProt]
xref: MedGen:C1845446
xref: MeSH:D038901
xref: MeSH:D061085
xref: MIM:300472 "phenotype"
[Term]
id: DI-00054
name: Agenesis of the corpus callosum, with peripheral neuropathy
def: "A disease that is characterized by severe progressive sensorimotor neuropathy, intellectual disability, dysmorphic features and complete or partial agenesis of the corpus callosum." []
synonym: "Andermann syndrome" [UniProt]
synonym: "Andermann's syndrome" [UniProt]
synonym: "Charlevoix disease" [UniProt]
synonym: "Corpus callosum, agenesis of, with neuronopathy" [UniProt]
synonym: "Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum" [UniProt]
xref: MedGen:C0795950
xref: MeSH:D009421
xref: MIM:218000 "phenotype"
[Term]
id: DI-00055
name: Macular degeneration, age-related, 1
def: "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane." []
xref: MedGen:C1864205
xref: MeSH:D008268
xref: MIM:603075 "phenotype"
[Term]
id: DI-00056
name: Macular degeneration, age-related, 2
def: "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane." []
xref: MedGen:C3495438
xref: MedGen:CN031413
xref: MeSH:D008268
xref: MIM:153800 "phenotype"
[Term]
id: DI-00057
name: Macular degeneration, age-related, 3
def: "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane." []
xref: MedGen:C1837187
xref: MeSH:D008268
xref: MIM:608895 "phenotype"
[Term]
id: DI-00058
name: Macular degeneration, age-related, 4
def: "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane." []
xref: MedGen:C1853147
xref: MeSH:D008268
xref: MIM:610698 "phenotype"
[Term]
id: DI-00059
name: Macular degeneration, age-related, 6
def: "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane." []
xref: MedGen:C3151060
xref: MeSH:D008268
xref: MIM:613757 "phenotype"
[Term]
id: DI-00060
name: Macular degeneration, age-related, 7
def: "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane." []
xref: MedGen:C1857813
xref: MedGen:C1857814
xref: MedGen:C1857815
xref: MeSH:D008268
xref: MIM:610149 "phenotype"
[Term]
id: DI-00061
name: Macular degeneration, age-related, 8
def: "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane." []
xref: MedGen:C3151070
xref: MeSH:D008268
xref: MIM:613778 "phenotype"
[Term]
id: DI-00062
name: Macular degeneration, age-related, 9
def: "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane." []
xref: MedGen:C1969651
xref: MeSH:D008268
xref: MIM:611378 "phenotype"
[Term]
id: DI-00063
name: Macular degeneration, age-related, 10
def: "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane." []
xref: MedGen:C1969108
xref: MeSH:D008268
xref: MIM:611488 "phenotype"
[Term]
id: DI-00064
name: Macular degeneration, age-related, 11
def: "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane." []
xref: MedGen:C2677774
xref: MeSH:D008268
xref: MIM:611953 "phenotype"
[Term]
id: DI-00065
name: AICA-ribosuria due to ATIC deficiency
def: "A neurologically devastating inborn error of purine biosynthesis. Patients excrete massive amounts of AICA-riboside in the urine and accumulate AICA-ribotide and its derivatives in erythrocytes and fibroblasts. Clinical features include profound intellectual disability, epilepsy, dysmorphic features and congenital blindness. AICAR inheritance is autosomal recessive." []
synonym: "AICA-ribosiduria due to ATIC deficiency" [UniProt]
synonym: "AICAR transformylase/IMP cyclohydrolase deficiency" [UniProt]
synonym: "ATIC deficiency" [UniProt]
xref: MedGen:C1837530
xref: MeSH:D011686
xref: MIM:608688 "phenotype"
[Term]
id: DI-00066
name: Aicardi-Goutieres syndrome 1
def: "A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood." []
synonym: "Autosomal dominant Aicardi-Goutieres syndrome" [UniProt]
synonym: "Cree encephalitis" [UniProt]
synonym: "Encephalopathy familial infantile with intracranial calcification and chronic cerebrospinal fluid lymphocytosis" [UniProt]
synonym: "Pseudo-TORCH syndrome" [UniProt]
synonym: "Pseudotoxoplasmosis syndrome" [UniProt]
xref: MedGen:C0796126
xref: MedGen:C3150315
xref: MeSH:D009421
xref: MeSH:D020274
xref: MIM:225750 "phenotype"
[Term]
id: DI-00067
name: Aicardi-Goutieres syndrome 2
def: "A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood." []
synonym: "Cree encephalitis" [UniProt]
synonym: "Pseudo-TORCH syndrome" [UniProt]
xref: MedGen:C3489724
xref: MedGen:CN028877
xref: MeSH:D009421
xref: MeSH:D020274
xref: MIM:610181 "phenotype"
[Term]
id: DI-00068
name: Aicardi-Goutieres syndrome 3
def: "A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood." []
synonym: "Cree encephalitis" [UniProt]
synonym: "Pseudo-TORCH syndrome" [UniProt]
xref: MedGen:C1835916
xref: MeSH:D009421
xref: MeSH:D020274
xref: MIM:610329 "phenotype"
[Term]
id: DI-00069
name: Aicardi-Goutieres syndrome 4
def: "A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood." []
synonym: "Cree encephalitis" [UniProt]
synonym: "Pseudo-TORCH syndrome" [UniProt]
xref: MedGen:C1835912
xref: MeSH:D009421
xref: MeSH:D020274
xref: MIM:610333 "phenotype"
[Term]
id: DI-00071
name: Alagille syndrome 1
def: "A form of Alagille syndrome, an autosomal dominant multisystem disorder. It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems." []
synonym: "Alagille syndrome" [UniProt]
synonym: "Alagille-Watson syndrome" [UniProt]
synonym: "ALGS" [UniProt]
synonym: "AWS" [UniProt]
synonym: "Cholestasis with peripheral pulmonary stenosis" [UniProt]
xref: MedGen:C0085280
xref: MedGen:C1956125
xref: MedGen:C2930797
xref: MeSH:D016738
xref: MIM:118450 "phenotype"
[Term]
id: DI-00072
name: Alagille syndrome 2
def: "A form of Alagille syndrome, an autosomal dominant multisystem disorder. It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems." []
synonym: "Alagille-Watson syndrome" [UniProt]
synonym: "ALGS" [UniProt]
synonym: "AWS" [UniProt]
synonym: "Cholestasis with peripheral pulmonary stenosis" [UniProt]
xref: MedGen:C1857761
xref: MeSH:D016738
xref: MIM:610205 "phenotype"
[Term]
id: DI-00073
name: Albright hereditary osteodystrophy
def: "A disorder characterized by short stature, obesity, round facies, brachydactyly and subcutaneous calcification. It is often associated with pseudohypoparathyoidism, hypocalcemia and elevated PTH levels." []
xref: MeSH:D011547
xref: MIM:103580 "phenotype"
[Term]
id: DI-00074
name: Alexander disease
def: "A rare disorder of the central nervous system. The most common form affects infants and young children, and is characterized by progressive failure of central myelination, usually leading to death within the first decade. Infants with Alexander disease develop a leukodystrophy with macrocephaly, seizures, and psychomotor retardation. Patients with juvenile or adult forms typically experience ataxia, bulbar signs and spasticity, and a more slowly progressive course. Histologically, Alexander disease is characterized by Rosenthal fibers, homogeneous eosinophilic inclusions in astrocytes." []
synonym: "Alexander's disease" [UniProt]
xref: MedGen:C0270726
xref: MeSH:D038261
xref: MIM:203450 "phenotype"
[Term]
id: DI-00075
name: Alpha-2-plasmin inhibitor deficiency
def: "An autosomal recessive disorder resulting in severe hemorrhagic diathesis." []
synonym: "Antiplasmin deficiency" [UniProt]
synonym: "Plasmin inhibitor deficiency" [UniProt]
xref: MedGen:C2752081
xref: MeSH:D006474
xref: MIM:262850 "phenotype"
[Term]
id: DI-00076
name: Alpha-methylacyl-CoA racemase deficiency
def: "A rare autosomal recessive peroxisomal disorder characterized by elevated plasma concentrations of pristanic acid C27-bile-acid intermediates, and adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging." []
synonym: "AMACR deficiency" [UniProt]
xref: MedGen:C1858325
xref: MedGen:C3280428
xref: MeSH:D018901
xref: MIM:614307 "phenotype"
[Term]
id: DI-00077
name: Alkaptonuria
def: "An autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis." []
synonym: "Homogentisic acid oxidase deficiency" [UniProt]
xref: MedGen:C0002066
xref: MeSH:D000474
xref: MIM:203500 "phenotype"
[Term]
id: DI-00078
name: Alopecia universalis congenita
def: "A rare disorder characterized by loss of hair from the entire body. No hair are present in hair follicles on skin biopsy." []
synonym: "Alopecia universalis" [UniProt]
synonym: "Atrichia generalized" [UniProt]
xref: MedGen:C1859877
xref: MeSH:D000505
xref: MIM:203655 "phenotype"
[Term]
id: DI-00079
name: Mitochondrial DNA depletion syndrome 4A
def: "An autosomal recessive hepatocerebral syndrome due to mitochondrial dysfunction. The typical course of the disease includes severe developmental delay, intractable seizures, liver failure, and death in childhood. Refractory seizures, cortical blindness, progressive liver dysfunction, and acute liver failure after exposure to valproic acid are considered diagnostic features. The neuropathological hallmarks are neuronal loss, spongiform degeneration, and astrocytosis of the visual cortex. Liver biopsy results show steatosis, often progressing to cirrhosis." []
synonym: "AHS" [UniProt]
synonym: "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis" [UniProt]
synonym: "Alpers progressive infantile poliodystrophy" [UniProt]
synonym: "Alpers syndrome" [UniProt]
synonym: "Alpers-Huttenlocher syndrome" [UniProt]
synonym: "Mitochondrial DNA depletion syndrome 4A Alpers type" [UniProt]
synonym: "Neuronal degeneration of childhood with liver disease progressive" [UniProt]
synonym: "PNDC" [UniProt]
xref: MedGen:C0205710
xref: MeSH:D002549
xref: MIM:203700 "phenotype"
[Term]
id: DI-00080
name: Alport syndrome 2, autosomal recessive
def: "A syndrome characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness." []
xref: MedGen:C1567744
xref: MeSH:D009394
xref: MIM:203780 "phenotype"
[Term]
id: DI-00082
name: Alport syndrome 1, X-linked
def: "A syndrome that is characterized by progressive glomerulonephritis, renal failure, sensorineural deafness, specific eye abnormalities (lenticonous and macular flecks), and glomerular basement membrane defects. The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness." []
synonym: "Nephritis-deafness syndrome, X-linked" [UniProt]
synonym: "Nephropathy and deafness, X-linked" [UniProt]
xref: MedGen:C0403444
xref: MedGen:C1567742
xref: MeSH:D009394
xref: MIM:301050 "phenotype"
[Term]
id: DI-00083
name: Alstrom syndrome
def: "A rare autosomal recessive disorder characterized by progressive cone- rod retinal dystrophy, neurosensory hearing loss, early childhood obesity and diabetes mellitus type 2. Dilated cardiomyopathy, acanthosis nigricans, male hypogonadism, hypothyroidism, developmental delay and hepatic dysfunction can also be associated with the syndrome." []
synonym: "Alstroem syndrome" [UniProt]
xref: MedGen:C0268425
xref: MeSH:D056769
xref: MIM:203800 "phenotype"
[Term]
id: DI-00084
name: Alternating hemiplegia of childhood 1
def: "A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age." []
xref: MedGen:C0338488
xref: MedGen:C3549447
xref: MeSH:D006429
xref: MIM:104290 "phenotype"
[Term]
id: DI-00085
name: Alzheimer disease 1
def: "A form of Alzheimer disease, a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. It can be associated with cerebral amyloid angiopathy. Alzheimer disease can be associated with cerebral amyloid angiopathy." []
synonym: "Autosomal dominant Alzheimer disease" [UniProt]
synonym: "Early-onset Alzheimer disease with cerebral amyloid angiopathy" [UniProt]
xref: MedGen:C1863052
xref: MeSH:D000544
xref: MIM:104300 "phenotype"
[Term]
id: DI-00086
name: Alzheimer disease 3
def: "A familial early-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid- beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death." []
synonym: "Early-onset familial Alzheimer disease 3" [UniProt]
synonym: "Familial Alzheimer disease 3" [UniProt]
synonym: "Familial Alzheimer disease 3 with spastic paraparesis and apraxia" [UniProt]
synonym: "Familial Alzheimer disease 3 with spastic paraparesis and unusual plaques" [UniProt]
xref: MedGen:C1843013
xref: MedGen:C1843014
xref: MedGen:C1843015
xref: MeSH:D000544
xref: MIM:607822 "phenotype"
[Term]
id: DI-00087
name: Alzheimer disease 4
def: "A familial early-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid- beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death." []
synonym: "Alzheimer disease, familial, 4" [UniProt]
xref: MedGen:C1847200
xref: MeSH:D000544
xref: MIM:606889 "phenotype"
[Term]
id: DI-00088
name: Amelogenesis imperfecta 1E
def: "An X-linked defect of dental enamel formation. Teeth have only a thin layer of enamel with normal hardness. The thinness of the enamel makes the teeth appear small." []
synonym: "AIH1" [UniProt]
synonym: "Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1" [UniProt]
synonym: "Amelogenesis imperfecta type IE" [UniProt]
synonym: "Amelogenesis imperfecta, hypomaturation type, with snow-capped teeth" [UniProt]
synonym: "Amelogenesis imperfecta, hypoplastic/hypomaturation type 1E" [UniProt]
synonym: "Enamel hypoplasia X-linked" [UniProt]
synonym: "Enamel hypoplasia, X-linked 1" [UniProt]
synonym: "X-linked amelogenesis imperfecta" [UniProt]
synonym: "XAI" [UniProt]
xref: MedGen:C1845052
xref: MedGen:C1845053
xref: MeSH:D000567
xref: MIM:301200 "phenotype"
[Term]
id: DI-00089
name: Amelogenesis imperfecta 1B
def: "An autosomal dominant defect of enamel formation. Clinical manifestations may be variable. Some cases present with generalized enamel hypoplasia resulting in small, smooth, yellow and widely spaced teeth (smooth hypoplastic AI). Others show horizontal rows of pits, grooves or a hypoplastic area in the enamel (local hypoplastic AI)." []
synonym: "AIH2" [UniProt]
synonym: "Amelogenesis imperfecta hypoplastic 2" [UniProt]
synonym: "Amelogenesis imperfecta hypoplastic local autosomal dominant" [UniProt]
synonym: "Amelogenesis imperfecta type IB" [UniProt]
synonym: "Hereditary localized enamel hypoplasia" [UniProt]
xref: MedGen:C0399368
xref: MeSH:D000567
xref: MIM:104500 "phenotype"
[Term]
id: DI-00090
name: Amelogenesis imperfecta 1C
def: "An autosomal recessive defect of dental enamel formation. Teeth show local hypoplastic and unmineralized enamel, and a yellow-brown discoloration. Enamel defects can be associated with facial and oral features including vertical dysgnathia and anterior openbite malocclusion." []
synonym: "Amelogenesis imperfecta hypoplastic with or without openbite malocclusion autosomal recessive" [UniProt]
synonym: "Amelogenesis imperfecta local hypoplastic type autosomal recessive" [UniProt]
synonym: "Amelogenesis imperfecta type IC" [UniProt]
xref: MedGen:C2673923
xref: MeSH:D000567
xref: MIM:204650 "phenotype"
[Term]
id: DI-00091
name: Amelogenesis imperfecta, hypomaturation type, 2A1
def: "A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel." []
synonym: "AIPH" [UniProt]
synonym: "Amelogenesis imperfecta 2 hypocalcification type" [UniProt]
synonym: "Amelogenesis imperfecta hypomineralization type" [UniProt]
synonym: "Amelogenesis imperfecta pigmented hypomaturation type 1" [UniProt]
xref: MedGen:C2673922
xref: MeSH:D000567
xref: MIM:204700 "phenotype"
[Term]
id: DI-00092
name: Amelogenesis imperfecta, hypomaturation type, 2A2
def: "A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel." []
synonym: "Amelogenesis imperfecta 2 hypocalcification type" [UniProt]
synonym: "Amelogenesis imperfecta pigmented hypomaturation type 2" [UniProt]
xref: MedGen:C2675858
xref: MeSH:D000567
xref: MIM:612529 "phenotype"
[Term]
id: DI-00093
name: Amelogenesis imperfecta 3A
def: "An autosomal dominant hypomineralized form of amelogenesis imperfecta, a defect of enamel formation. AI3A is characterized by enamel of normal thickness but soft and with cheesy consistency. Enamel is lost from tooth soon after eruption." []
synonym: "ADHCAI" [UniProt]
synonym: "Amelogenesis imperfecta hypocalcification type autosomal dominant" [UniProt]
synonym: "Amelogenesis imperfecta hypomineralization type" [UniProt]
synonym: "Amelogenesis imperfecta type III" [UniProt]
xref: MedGen:C0399376
xref: MeSH:D000567
xref: MIM:130900 "phenotype"
[Term]
id: DI-00094
name: Amelogenesis imperfecta 4
def: "An autosomal dominant defect of enamel formation associated with enlarged pulp chambers. Enamel is thin, teeth are small and widely spaced." []
synonym: "AIHHT" [UniProt]
synonym: "AIT" [UniProt]
synonym: "Amelogenesis imperfecta 2 hypocalcification type" [UniProt]
synonym: "Amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism" [UniProt]
synonym: "Amelogenesis imperfecta hypomineralization type" [UniProt]
synonym: "Amelogenesis imperfecta type IV" [UniProt]
synonym: "Amelogenesis imperfecta with taurodontism" [UniProt]
xref: MedGen:C1863012
xref: MeSH:D000567
xref: MIM:104510 "phenotype"
[Term]
id: DI-00095
name: Aminoacylase-1 deficiency
def: "An enzymatic deficiency resulting in encephalopathy, unspecific psychomotor delay, psychomotor delay with atrophy of the vermis and syringomyelia, marked muscular hypotonia or normal clinical features. Epileptic seizures are a frequent feature. All affected individuals exhibit markedly increased urinary excretion of several N-acetylated amino acids." []
synonym: "Encephalopathy associated with aminoacylase 1 deficiency" [UniProt]
xref: MedGen:C1835922
xref: MeSH:D000592
xref: MIM:609924 "phenotype"
[Term]
id: DI-00096
name: Salt and pepper developmental regression syndrome
def: "A rare autosomal recessive disorder characterized by infantile onset of severe, recurrent and refractory seizures, failure to thrive, psychomotor delay, developmental stagnation, and cortical blindness. Deafness is observed in some patients. Affected individuals have patches of skin hypo- or hyperpigmentation on the trunk, face, and extremities." []
synonym: "AIES" [UniProt]
synonym: "Amish infantile epilepsy syndrome" [UniProt]
synonym: "Epilepsy syndrome infantile-onset symptomatic" [UniProt]
synonym: "GM3 synthase deficiency" [UniProt]
xref: MedGen:C1836824
xref: MeSH:D004827
xref: MIM:609056 "phenotype"
[Term]
id: DI-00097
name: Cerebral amyloid angiopathy, APP-related
def: "A hereditary localized amyloidosis due to amyloid-beta A4 peptide(s) deposition in the cerebral vessels. The principal clinical characteristics are recurrent cerebral and cerebellar hemorrhages, recurrent strokes, cerebral ischemia, cerebral infarction, and progressive mental deterioration. Patients develop cerebral hemorrhage because of the severe cerebral amyloid angiopathy. Parenchymal amyloid deposits are rare and largely in the form of pre-amyloid lesions or diffuse plaque-like structures. They are Congo red negative and lack the dense amyloid cores commonly present in Alzheimer disease. Some affected individuals manifest progressive aphasic dementia, leukoencephalopathy, and occipital calcifications." []
synonym: "Amyloidosis cerebroarterial APP-related" [UniProt]
synonym: "Amyloidosis hereditary with cerebral hemorrhage Dutch variant" [UniProt]
synonym: "Cerebral amyloid angiopathy APP-related Arctic variant" [UniProt]
synonym: "Cerebral amyloid angiopathy APP-related Dutch variant" [UniProt]
synonym: "Cerebral amyloid angiopathy APP-related Flemish variant" [UniProt]
synonym: "Cerebral amyloid angiopathy APP-related Iowa variant" [UniProt]
synonym: "Cerebral amyloid angiopathy APP-related Italian variant" [UniProt]
synonym: "Familial occipital calcifications with hemorrhagic strokes leukoencephalopathy arterial dysplasia dementia" [UniProt]
synonym: "FOCHS-LADD" [UniProt]
synonym: "HCHWA-D" [UniProt]
synonym: "HCHWAD" [UniProt]
synonym: "Hereditary cerebral amyloid angiopathy Dutch type" [UniProt]
synonym: "Hereditary cerebral hemorrhage with amyloidosis Dutch type" [UniProt]
synonym: "Hereditary cerebral hemorrhage with amyloidosis Italian type" [UniProt]
xref: MedGen:C2751536
xref: MedGen:C2931672
xref: MeSH:D028243
xref: MIM:605714 "phenotype"
[Term]
id: DI-00100
name: Amyloidosis, hereditary systemic 1
def: "A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD1 is an autosomal dominant form due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor." []
synonym: "Amyloid polyneuropathy" [UniProt]
synonym: "Amyloidosis I" [UniProt]
synonym: "Amyloidosis Ohio type" [UniProt]
synonym: "Amyloidosis type 7" [UniProt]
synonym: "Amyloidosis VII" [UniProt]
synonym: "Amyloidosis, transthyretin-related" [UniProt]
synonym: "ATTR" [UniProt]
synonym: "Familial amyloid polyneuropathy" [UniProt]
synonym: "Familial amyloid polyneuropathy type I" [UniProt]
synonym: "Familial amyloid polyneuropathy type II" [UniProt]
synonym: "FAP" [UniProt]
synonym: "Hereditary amyloidosis transthyretin-related" [UniProt]
synonym: "Leptomeningeal amyloidosis" [UniProt]
synonym: "Meningocerebrovascular amyloidosis" [UniProt]
synonym: "Oculoleptomeningeal amyloidosis" [UniProt]
synonym: "Transthyretin amyloid neuropathy" [UniProt]
synonym: "Transthyretin amyloid polyneuropathy" [UniProt]
synonym: "Transthyretin amyloidosis" [UniProt]
synonym: "TTR amyloid neuropathy" [UniProt]
xref: MedGen:C0342609
xref: MedGen:C2751492
xref: MedGen:C3151470
xref: MedGen:C3151471
xref: MeSH:D028226
xref: MIM:105210 "phenotype"
[Term]
id: DI-00101
name: Amyloidosis, hereditary systemic 4, Finnish type
def: "A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD4 is due to gelsolin amyloid deposition and is typically characterized by cranial neuropathy and lattice corneal dystrophy. Most patients have modest involvement of internal organs, but severe systemic disease can develop in some individuals causing peripheral polyneuropathy, amyloid cardiomyopathy, and nephrotic syndrome leading to renal failure. AMYLD4 is usually inherited in an autosomal dominant pattern. However, homozygotes with a more severe phenotype have also been reported." []
synonym: "AGel" [UniProt]
synonym: "Amyloid cranial neuropathy with lattice corneal dystrophy" [UniProt]
synonym: "Amyloidosis 5" [UniProt]
synonym: "Amyloidosis due to mutant gelsolin" [UniProt]
synonym: "Amyloidosis V" [UniProt]
synonym: "Familial amyloid polyneuropathy type IV" [UniProt]
synonym: "Familial amyloidosis Finnish type" [UniProt]
synonym: "Finnish type amyloidosis" [UniProt]
synonym: "Gelsolin amyloidosis" [UniProt]
synonym: "Lattice corneal dystrophy type II" [UniProt]
synonym: "Meretoja type amyloidosis" [UniProt]
xref: MedGen:C1622345
xref: MedGen:C1628319
xref: MedGen:C2751493
xref: MeSH:D028226
xref: MIM:105120 "phenotype"
[Term]
id: DI-00102
name: Cerebral amyloid angiopathy, CST3-related
def: "An autosomal dominant disorder characterized by cystatin C amyloid accumulation in the walls of arteries, arterioles, and sometimes capillaries and veins of the brain, and in various organs including lymphoid tissue, spleen, salivary glands, and seminal vesicles. Amyloid deposition in the cerebral vessels results in intracranial hemorrhage and premature stroke. Cystatin C levels in the cerebrospinal fluid are abnormally low." []
synonym: "ACys" [UniProt]
synonym: "CAA" [UniProt]
synonym: "Cerebral amyloid angiopathy" [UniProt]
synonym: "Cerebral amyloid angiopathy CST3-related" [UniProt]
synonym: "Cerebroarterial amyloidosis Icelandic type" [UniProt]
synonym: "Cystatin C amyloidosis" [UniProt]
synonym: "HCCAA" [UniProt]
synonym: "HCHWA" [UniProt]
synonym: "HCHWA-I" [UniProt]
synonym: "HCHWAI" [UniProt]
synonym: "Hereditary cerebral hemorrhage with amyloidosis" [UniProt]
synonym: "Hereditary cerebral hemorrhage with amyloidosis Icelandic type" [UniProt]
synonym: "Hereditary cystatin C amyloid angiopathy" [UniProt]
xref: MedGen:C0085220
xref: MedGen:C1510489
xref: MedGen:C1527338
xref: MeSH:D028243
xref: MIM:105150 "phenotype"
[Term]
id: DI-00104
name: Amyloidosis, hereditary systemic 2
def: "A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD2 is an autosomal dominant form characterized by deposition of amyloid preferentially in the glomeruli of the kidney. It clinically presents with hypertension, proteinuria, and finally azotemia. Involvement of liver and spleen may be seen in advanced cases, but heavy glomerular deposition without significant medium sized vessel involvement is characteristic of the disease." []
synonym: "Amyloidosis 8" [UniProt]
synonym: "Amyloidosis VIII" [UniProt]
synonym: "Familial amyloid nephropathy" [UniProt]
synonym: "Familial renal amyloidosis" [UniProt]
synonym: "Familial visceral amyloidosis" [UniProt]
synonym: "German type amyloidosis" [UniProt]
synonym: "Ostertag type amyloidosis" [UniProt]
synonym: "Systemic non-neuropathic amyloidosis" [UniProt]
xref: MedGen:C0268389
xref: MeSH:D028226
xref: MIM:105200 "phenotype"
[Term]
id: DI-00105
name: Amyloidosis, primary localized cutaneous, 1
def: "A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins." []
synonym: "Amyloidosis IX" [UniProt]
synonym: "Amyloidosis type 9" [UniProt]
synonym: "Familial lichen amyloidosis" [UniProt]
synonym: "PCA" [UniProt]
synonym: "PLCA" [UniProt]
synonym: "Primary cutaneous amyloidosis" [UniProt]
synonym: "Primary localized cutaneous amyloidosis" [UniProt]
xref: MedGen:C0268397
xref: MedGen:C0268398
xref: MeSH:D028226
xref: MIM:105250 "phenotype"
[Term]
id: DI-00107
name: Amyotrophic lateral sclerosis
def: "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases." []
synonym: "Charcot disease" [UniProt]
synonym: "Lou Gehrig disease" [UniProt]
synonym: "MND" [UniProt]
synonym: "Motor neuron disease" [UniProt]
xref: MedGen:C1862940
xref: MedGen:C1862941
xref: MeSH:D000690
xref: MIM:105400 "phenotype"
[Term]
id: DI-00108
name: Amyotrophic lateral sclerosis 1
def: "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases." []
synonym: "FALS" [UniProt]
synonym: "Familial amyotrophic lateral sclerosis" [UniProt]
synonym: "Lou Gehrig disease" [UniProt]
xref: MedGen:C1862939
xref: MedGen:C3542025
xref: MeSH:D000690
xref: MIM:105400 "phenotype"
[Term]
id: DI-00109
name: Amyotrophic lateral sclerosis 2
def: "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases." []
synonym: "ALSJ" [UniProt]
synonym: "Amyotrophic lateral sclerosis juvenile" [UniProt]
synonym: "Amyotrophic lateral sclerosis juvenile 2" [UniProt]
xref: MedGen:C1859807
xref: MeSH:D000690
xref: MIM:205100 "phenotype"
[Term]
id: DI-00110
name: Amyotrophic lateral sclerosis 4
def: "A form of amyotrophic lateral sclerosis with childhood- or adolescent- onset, and characterized by slow disease progression and the sparing of bulbar and respiratory muscles. Amyotrophic lateral sclerosis is a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases." []
synonym: "Amyotrophic lateral sclerosis juvenile 4" [UniProt]
synonym: "Neuronopathy distal hereditary motor with pyramidal features" [UniProt]
xref: MedGen:C1865409
xref: MeSH:D000690
xref: MIM:602433 "phenotype"
[Term]
id: DI-00111
name: Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
def: "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases." []
xref: MedGen:C1842675
xref: MedGen:C2750729
xref: MeSH:D000690
xref: MIM:608030 "phenotype"
[Term]
id: DI-00112
name: Amyotrophic lateral sclerosis 8
def: "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases." []
xref: MedGen:C1837728
xref: MeSH:D000690
xref: MIM:608627 "phenotype"
[Term]
id: DI-00113
name: Amyotrophic lateral sclerosis 9
def: "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases." []
xref: MedGen:C2678468
xref: MeSH:D000690
xref: MIM:611895 "phenotype"
[Term]
id: DI-00114
name: Amyotrophic lateral sclerosis 10
def: "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases." []
synonym: "Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia and with TDP43 inclusions" [UniProt]
xref: MedGen:C2677565
xref: MedGen:C3150169
xref: MedGen:C3150170
xref: MedGen:C3150171
xref: MeSH:D000690
xref: MIM:612069 "phenotype"
[Term]
id: DI-00115
name: Amyotrophic lateral sclerosis 11
def: "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases." []
xref: MedGen:C2675491
xref: MeSH:D000690
xref: MIM:612577 "phenotype"
[Term]
id: DI-00116
name: Androgen insensitivity syndrome
def: "An X-linked recessive form of pseudohermaphroditism due end-organ resistance to androgen. Affected males have female external genitalia, female breast development, blind vagina, absent uterus and female adnexa, and abdominal or inguinal testes, despite a normal 46,XY karyotype." []
synonym: "Androgen receptor deficiency" [UniProt]
synonym: "Androgen resistance syndrome" [UniProt]
synonym: "AR deficiency" [UniProt]
synonym: "CAIS" [UniProt]
synonym: "Complete androgen insensitivity syndrome" [UniProt]
synonym: "DHTR deficiency" [UniProt]
synonym: "Dihydrotestosterone receptor deficiency" [UniProt]
synonym: "Testicular feminization syndrome" [UniProt]
synonym: "TFM" [UniProt]
xref: MedGen:C0039585
xref: MeSH:D013734
xref: MIM:300068 "phenotype"
[Term]
id: DI-00117
name: Androgen insensitivity, partial
def: "A disorder that is characterized by hypospadias, hypogonadism, gynecomastia, genital ambiguity, normal XY karyotype, and a pedigree pattern consistent with X-linked recessive inheritance. Some patients present azoospermia or severe oligospermia without other clinical manifestations." []
synonym: "Androgen insensitivity partial with or without breast cancer" [UniProt]
synonym: "Familial incomplete male pseudohermaphroditism, type 1" [UniProt]
synonym: "Reifenstein syndrome" [UniProt]
xref: MedGen:C0268301
xref: MeSH:D013734
xref: MIM:312300 "phenotype"
[Term]
id: DI-00119
name: Anemia, sideroblastic, 2, pyridoxine-refractory
def: "A form of sideroblastic anemia not responsive to pyridoxine. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus." []
synonym: "Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive" [UniProt]
xref: MedGen:C2673914
xref: MeSH:D000756
xref: MIM:205950 "phenotype"
[Term]
id: DI-00120
name: Anemia, sideroblastic, 1
def: "A form of sideroblastic anemia that shows a variable hematologic response to pharmacologic doses of pyridoxine. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus." []
synonym: "Anemia, sideroblastic, X-linked" [UniProt]
synonym: "ANH1" [UniProt]
synonym: "Hereditary iron-loading anemia" [UniProt]
synonym: "Hereditary sideroblastic anemia" [UniProt]
synonym: "Hypochromic anemia" [UniProt]
synonym: "XLSA" [UniProt]
xref: MedGen:C0221018
xref: MeSH:D000747
xref: MeSH:D000756
xref: MIM:300751 "phenotype"
[Term]
id: DI-00121
name: Angelman syndrome
def: "A neurodevelopmental disorder characterized by severe motor and intellectual retardation, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, open- mouthed expression revealing the tongue." []
synonym: "Happy puppet syndrome" [UniProt]
xref: MedGen:C0162635
xref: MeSH:D017204
xref: MIM:105830 "phenotype"
[Term]
id: DI-00122
name: Ankyloblepharon-ectodermal defects-cleft lip/palate
def: "An autosomal dominant condition characterized by congenital ectodermal dysplasia with coarse, wiry, sparse hair, dystrophic nails, slight hypohidrosis, scalp infections, ankyloblepharon filiform adnatum, maxillary hypoplasia, hypodontia and cleft lip/palate." []
synonym: "AEC syndrome" [UniProt]
synonym: "Ankyloblepharon-ectodermal defect-cleft lip/palate" [UniProt]
synonym: "Hay-Wells syndrome" [UniProt]
xref: MedGen:C0406709
xref: MeSH:D004476
xref: MIM:106260 "phenotype"
[Term]
id: DI-00123
name: Anterior segment dysgenesis 1
def: "A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis." []
synonym: "Anterior segment mesenchymal dysgenesis" [UniProt]
synonym: "Anterior segment ocular dysgenesis" [UniProt]
synonym: "ASMD" [UniProt]
synonym: "ASOD" [UniProt]
synonym: "Familial ocular anterior segment mesenchymal dysgenesis" [UniProt]
xref: MedGen:C1862839
xref: MeSH:D005124
xref: MIM:107250 "phenotype"
[Term]
id: DI-00124
name: Antithrombin III deficiency
def: "An important risk factor for hereditary thrombophilia, a hemostatic disorder characterized by a tendency to recurrent thrombosis. Antithrombin-III deficiency is classified into 4 types. Type I: characterized by a 50% decrease in antigenic and functional levels. Type II: has defects affecting the thrombin-binding domain. Type III: alteration of the heparin-binding domain. Plasma AT-III antigen levels are normal in type II and III. Type IV: consists of miscellaneous group of unclassifiable mutations." []
synonym: "Antithrombin 3 deficiency" [UniProt]
synonym: "Antithrombin deficiency" [UniProt]
synonym: "Antithrombin-III deficiency" [UniProt]
synonym: "AT-III deficiency" [UniProt]
synonym: "THPH7" [UniProt]
synonym: "Thrombophilia due to antithrombin-III deficiency" [UniProt]
xref: MedGen:C0272375
xref: MeSH:D020152
xref: MIM:613118 "phenotype"
[Term]
id: DI-00125
name: Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis
def: "A rare syndrome characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. Arachnodactyly and/or camptodactyly have also been reported." []
synonym: "Multisynostotic osteodysgenesis with long bone fractures" [UniProt]
synonym: "Osteodysgenesis multisynostotic with fractures" [UniProt]
synonym: "Trapezoidocephaly-synostosis syndrome" [UniProt]
xref: MedGen:C2936791
xref: MeSH:D054882
xref: MIM:207410 "phenotype"
[Term]
id: DI-00126
name: Aortic aneurysm, familial abdominal
def: "A common multifactorial disorder characterized by permanent dilation of the abdominal aorta, usually due to degenerative changes in the aortic wall. Histologically, AAA is characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells." []
xref: MedGen:C0162871
xref: MedGen:C1853365
xref: MeSH:D017544
xref: MIM:100070 "phenotype"
[Term]
id: DI-00128
name: Aortic aneurysm, familial thoracic 4
def: "A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance." []
synonym: "Aortic aneurysm/aortic dissection and patent ductus arteriosus" [UniProt]
synonym: "FAA4" [UniProt]
synonym: "Familial aortic aneurysm 4" [UniProt]
synonym: "Non-syndromic thoracic aortic aneurysms and dissection" [UniProt]
synonym: "TAAD" [UniProt]
synonym: "Thoracic aortic aneurysms and dissection" [UniProt]
xref: MedGen:C1851504
xref: MeSH:D017545
xref: MIM:132900 "phenotype"
[Term]
id: DI-00130
name: Aortic aneurysm, familial thoracic 6
def: "A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance." []
synonym: "Familial thoracic aortic aneurysm with livedo reticularis and iris flocculi" [UniProt]
xref: MedGen:C2673186
xref: MeSH:D017545
xref: MIM:611788 "phenotype"
[Term]
id: DI-00131
name: Apert syndrome
def: "A syndrome characterized by facio-cranio-synostosis, osseous and membranous syndactyly of the four extremities, and midface hypoplasia. The craniosynostosis is bicoronal and results in acrocephaly of brachysphenocephalic type. Syndactyly of the fingers and toes may be total (mitten hands and sock feet) or partial affecting the second, third, and fourth digits. Intellectual deficit is frequent and often severe, usually being associated with cerebral malformations." []
synonym: "Acrocephalosyndactyly type 1" [UniProt]
synonym: "ACS I" [UniProt]
synonym: "ACS1" [UniProt]
xref: MedGen:C0001193
xref: MedGen:C1863389
xref: MedGen:C1863390
xref: MedGen:C1863391
xref: MeSH:D000168
xref: MIM:101200 "phenotype"
[Term]
id: DI-00132
name: Argininemia
def: "A rare autosomal recessive disorder of the urea cycle. Arginine is elevated in the blood and cerebrospinal fluid, and periodic hyperammonemia occurs. Clinical manifestations include developmental delay, seizures, intellectual disability, hypotonia, ataxia and progressive spastic quadriplegia." []
synonym: "ARG1 deficiency" [UniProt]
synonym: "Arginase deficiency" [UniProt]
synonym: "Arginase-1 deficiency" [UniProt]
synonym: "Hyperargininemia" [UniProt]
xref: MedGen:C0268548
xref: MeSH:D020162
xref: MIM:207800 "phenotype"
[Term]
id: DI-00133
name: Argininosuccinic aciduria
def: "An autosomal recessive disorder of the urea cycle. The disease is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, and episodic unconsciousness." []
synonym: "Argininosuccinase deficiency" [UniProt]
synonym: "Argininosuccinic acid lyase deficiency" [UniProt]
synonym: "ASAuria" [UniProt]
synonym: "ASL deficiency" [UniProt]
xref: MedGen:C0268547
xref: MeSH:D000592
xref: MIM:207900 "phenotype"
[Term]
id: DI-00134
name: Aromatase deficiency
def: "A rare disease in which fetal androgens are not converted into estrogens due to placental aromatase deficiency. Thus, pregnant women exhibit a hirsutism, which spontaneously resolves after post-partum. At birth, female babies present with pseudohermaphroditism due to virilization of extern genital organs. In adult females, manifestations include delay of puberty, breast hypoplasia and primary amenorrhoea with multicystic ovaries." []
synonym: "Pseudohermaphroditism female due to placental aromatase deficiency" [UniProt]
xref: MedGen:C0878680
xref: MeSH:D008661
xref: MeSH:D058489
xref: MIM:613546 "phenotype"
[Term]
id: DI-00135
name: Aromatic L-amino-acid decarboxylase deficiency
def: "An inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. It causes developmental and psychomotor delay, poor feeding, lethargy, ptosis, intermittent hypothermia, gastrointestinal disturbances. The onset is early in infancy and inheritance is autosomal recessive." []
synonym: "Aromatic-L-amino-acid decarboxylase deficiency" [UniProt]
synonym: "DDC deficiency" [UniProt]
synonym: "DOPA decarboxylase deficiency" [UniProt]
xref: MedGen:C1291564
xref: MeSH:D000592
xref: MIM:608643 "phenotype"
[Term]
id: DI-00136
name: Arthrogryposis, renal dysfunction and cholestasis syndrome 1
def: "A multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase activity. Platelet dysfunction is common." []
synonym: "ARC syndrome" [UniProt]
synonym: "ARCS" [UniProt]
synonym: "Arthrogryposis renal dysfunction and cholestasis 1" [UniProt]
xref: MedGen:C1859722
xref: MeSH:D001176
xref: MeSH:D002779
xref: MeSH:D051437
xref: MIM:208085 "phenotype"
[Term]
id: DI-00137
name: Aspartylglucosaminuria
def: "An inborn lysosomal storage disease causing excess accumulation of glycoasparagine in the body tissues and its increased excretion in urine. Clinical features include mild to severe intellectual disability manifesting from the age of two, coarse facial features and mild connective tissue abnormalities." []
synonym: "AGA deficiency" [UniProt]
synonym: "Aspartylglucosaminidase deficiency" [UniProt]
synonym: "Aspartylglycosaminuria" [UniProt]
synonym: "Glycosylasparaginase deficiency" [UniProt]
xref: MedGen:C0268225
xref: MedGen:C2931840
xref: MedGen:CN068400
xref: MeSH:D054880
xref: MIM:208400 "phenotype"
[Term]
id: DI-00138
name: Ataxia-oculomotor apraxia syndrome
def: "An autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy." []
synonym: "AOA1" [UniProt]
synonym: "Ataxia early-onset with oculomotor apraxia and hypoalbuminemia" [UniProt]
synonym: "Ataxia-oculomotor apraxia 1" [UniProt]
synonym: "Cerebellar ataxia early-onset with hypoalbuminemia" [UniProt]
synonym: "EAOH" [UniProt]
synonym: "EOCA-HA" [UniProt]
xref: MedGen:C1859598
xref: MeSH:D001072
xref: MeSH:D002524
xref: MIM:208920 "phenotype"
[Term]
id: DI-00139
name: Ataxia telangiectasia
def: "A rare recessive disorder characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. Patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation." []
synonym: "AT1" [UniProt]
synonym: "Ataxia-telangiectasia" [UniProt]
synonym: "Louis-Bar syndrome" [UniProt]
xref: MedGen:C0004135
xref: MedGen:C1859616
xref: MedGen:C1876175
xref: MeSH:D001260
xref: MIM:208900 "phenotype"
[Term]
id: DI-00140
name: Ataxia-telangiectasia-like disorder 1
def: "A rare disorder characterized by progressive cerebellar ataxia, dysarthria, abnormal eye movements, and absence of telangiectasia. ATLD patients show normal levels of total IgG, IgA and IgM, although there may be reduced levels of specific functional antibodies. At the cellular level, ATLD exhibits hypersensitivity to ionizing radiation and radioresistant DNA synthesis." []
synonym: "Ataxia-telangiectasia-like disorder" [UniProt]
synonym: "ATLD" [UniProt]
xref: MedGen:C1858391
xref: MeSH:D002524
xref: MeSH:D049914
xref: MIM:604391 "phenotype"
[Term]
id: DI-00141
name: Ataxia with vitamin E deficiency
def: "An autosomal recessive disease characterized by undetectable or markedly reduced plasma levels of vitamin E, spinocerebellar degeneration, ataxia, areflexia and proprioception loss." []
synonym: "Ataxia Friedreich-like with selective vitamin E deficiency" [UniProt]
synonym: "Familial isolated vitamin E deficiency" [UniProt]
xref: MedGen:C1848533
xref: MeSH:D014811
xref: MIM:277460 "phenotype"
[Term]
id: DI-00142
name: Atelosteogenesis 1
def: "A lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the mid-thoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes which are encapsulated in fibrous tissue." []
synonym: "AOI" [UniProt]
synonym: "Atelosteogenesis type I" [UniProt]
synonym: "Giant cell chondrodysplasia" [UniProt]
synonym: "Spondylohumerofemoral hypoplasia" [UniProt]
xref: MedGen:C0265283
xref: MeSH:D010009
xref: MIM:108720 "phenotype"
[Term]
id: DI-00143
name: Atelosteogenesis 2
def: "A perinatal dysplasia characterized by shortening of the limbs, a dysmorphic syndrome and radiographic skeletal features. Patients are stillborn or die soon after birth." []
synonym: "AO-II" [UniProt]
synonym: "Atelosteogenesis type II" [UniProt]
synonym: "Neonatal osseous dysplasia 1" [UniProt]
synonym: "Neonatal osseous dysplasia type I" [UniProt]
xref: MedGen:C1850554
xref: MedGen:C1850555
xref: MeSH:D010009
xref: MIM:256050 "phenotype"
[Term]
id: DI-00144
name: Atelosteogenesis 3
def: "A short-limb lethal skeletal dysplasia with vertebral abnormalities, disharmonious skeletal maturation, poorly modeled long bones and joint dislocations. Recurrent respiratory insufficiency and/or infections usually result in early death." []
synonym: "AOIII" [UniProt]
synonym: "Atelosteogenesis type III" [UniProt]
xref: MedGen:C1862414
xref: MeSH:D010009
xref: MIM:108721 "phenotype"
[Term]
id: DI-00145
name: Atransferrinemia
def: "A rare autosomal recessive disorder characterized by abnormal synthesis of transferrin leading to iron overload and microcytic hypochromic anemia." []
xref: MedGen:C0521802
xref: MedGen:C1859593
xref: MedGen:C3277918
xref: MeSH:D008664
xref: MIM:209300 "phenotype"
[Term]
id: DI-00146
name: Atrial fibrillation, familial, 3
def: "An autosomal dominant form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure." []
xref: MedGen:C1837014
xref: MeSH:D001281
xref: MIM:607554 "phenotype"
[Term]
id: DI-00147
name: Atrial fibrillation, familial, 4
def: "A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure." []
xref: MedGen:C1862394
xref: MeSH:D001281
xref: MIM:611493 "phenotype"
[Term]
id: DI-00148
name: Atrial fibrillation, familial, 6
def: "A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure." []
xref: MedGen:C2677294
xref: MeSH:D001281
xref: MIM:612201 "phenotype"
[Term]
id: DI-00149
name: Atrial fibrillation, familial, 7
def: "A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure." []
xref: MedGen:C2677106
xref: MeSH:D001281
xref: MIM:612240 "phenotype"
[Term]
id: DI-00150
name: Atrial septal defect 2
def: "A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show other heart abnormalities including ventricular and atrioventricular septal defects, pulmonary valve thickening or insufficiency of the cardiac valves. The disease is not associated with defects in the cardiac conduction system or non- cardiac abnormalities." []
xref: MedGen:C1842778
xref: MeSH:D006344
xref: MIM:607941 "phenotype"
[Term]
id: DI-00151
name: Atrial septal defect 3
def: "A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria." []
xref: MedGen:C1834527
xref: MedGen:C3279790
xref: MeSH:D006344
xref: MIM:614089 "phenotype"
[Term]
id: DI-00152
name: Atrial septal defect 4
def: "A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show other heart abnormalities including defects in septation, chamber growth and valvulogenesis. The disease is not associated with defects in the cardiac conduction system or with non-cardiac abnormalities." []
xref: MedGen:C1969657
xref: MeSH:D006344
xref: MIM:611363 "phenotype"
[Term]
id: DI-00153
name: Atrial septal defect 7, with or without atrioventricular conduction defects
def: "A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria, and atrioventricular conduction defects in some cases." []
synonym: "ASD with atrioventricular conduction defects" [UniProt]
synonym: "ASD with or without atrioventricular conduction defects" [UniProt]
synonym: "Atrial septal defect 7 with or without AV conduction defects" [UniProt]
xref: MedGen:C1862388
xref: MedGen:C3276096
xref: MeSH:D006344
xref: MIM:108900 "phenotype"
[Term]
id: DI-00154
name: Atrichia with papular lesions
def: "An autosomal recessive disease characterized by papillary lesions over most of the body and almost complete absence of hair." []
synonym: "Congenital atrichia" [UniProt]
synonym: "Papular atrichia" [UniProt]
xref: MedGen:C1859592
xref: MeSH:D000505
xref: MIM:209500 "phenotype"
[Term]
id: DI-00155
name: Autoimmune lymphoproliferative syndrome 1A
def: "A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia." []
synonym: "Autoimmune lymphoproliferative syndrome type IA" [UniProt]
synonym: "Canale-Smith syndrome" [UniProt]
synonym: "CSS" [UniProt]
xref: MedGen:C1866119
xref: MedGen:C1866121
xref: MeSH:D056735
xref: MIM:601859 "phenotype"
[Term]
id: DI-00156
name: Autoimmune lymphoproliferative syndrome 1B
def: "A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia." []
synonym: "Autoimmune lymphoproliferative syndrome type IB" [UniProt]
synonym: "Canale-Smith syndrome" [UniProt]
synonym: "CSS" [UniProt]
xref: MedGen:C1866120
xref: MedGen:C1866121
xref: MeSH:D056735
xref: MIM:601859 "phenotype"
[Term]
id: DI-00157
name: Autoimmune lymphoproliferative syndrome 2A
def: "A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia." []
synonym: "ALPS2" [UniProt]
synonym: "Autoimmune lymphoproliferative syndrome type IIA" [UniProt]
synonym: "Autoimmune lymphoproliferative syndrome, type II" [UniProt]
xref: MedGen:C1858968
xref: MeSH:D056735
xref: MIM:603909 "phenotype"
[Term]
id: DI-00158
name: Baller-Gerold syndrome
def: "An autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals, metacarpals and phalanges. Some patients manifest poikiloderma. Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome." []
synonym: "Craniosynostosis with radial defects" [UniProt]
synonym: "Craniosynostosis-radial aplasia syndrome" [UniProt]
xref: MedGen:C0265308
xref: MeSH:D003398
xref: MIM:218600 "phenotype"
[Term]
id: DI-00159
name: Bardet-Biedl syndrome 1
def: "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease." []
xref: MedGen:C2936862
xref: MeSH:D020788
xref: MIM:209900 "phenotype"
[Term]
id: DI-00160
name: Bardet-Biedl syndrome 2
def: "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease." []
xref: MedGen:C2936863
xref: MeSH:D020788
xref: MIM:615981 "phenotype"
[Term]
id: DI-00161
name: Bardet-Biedl syndrome 3
def: "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease." []
xref: MedGen:C1859564
xref: MeSH:D020788
xref: MIM:600151 "phenotype"
[Term]
id: DI-00162
name: Bardet-Biedl syndrome 4
def: "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease." []
xref: MedGen:C2936864
xref: MeSH:D020788
xref: MIM:615982 "phenotype"
[Term]
id: DI-00163
name: Bardet-Biedl syndrome 5
def: "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease." []
xref: MedGen:CN043026
xref: MeSH:D020788
xref: MIM:615983 "phenotype"
[Term]
id: DI-00164
name: Bardet-Biedl syndrome 6
def: "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease." []
xref: MedGen:C1858054
xref: MeSH:D020788
xref: MIM:605231 "phenotype"
[Term]
id: DI-00165
name: Bardet-Biedl syndrome 7
def: "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease." []
xref: MedGen:C1859565
xref: MeSH:D020788
xref: MIM:615984 "phenotype"
[Term]
id: DI-00166
name: Bardet-Biedl syndrome 8
def: "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease." []
xref: MedGen:C1859566
xref: MeSH:D020788
xref: MIM:615985 "phenotype"
[Term]
id: DI-00167
name: Bardet-Biedl syndrome 9
def: "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease." []
xref: MedGen:C1859567
xref: MeSH:D020788
xref: MIM:615986 "phenotype"
[Term]
id: DI-00168
name: Bardet-Biedl syndrome 10
def: "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease." []
xref: MedGen:C1859568
xref: MeSH:D020788
xref: MIM:615987 "phenotype"
[Term]
id: DI-00169
name: Bardet-Biedl syndrome 11
def: "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease." []
xref: MedGen:C1859569
xref: MeSH:D020788
xref: MIM:615988 "phenotype"
[Term]
id: DI-00170
name: MHC class I deficiency 1
def: "An autosomal recessive immunologic disorder characterized by chronic bacterial infections of the respiratory tract, beginning in the first or second decade of life and usually progressing to bronchiectasis. Patients have nasal polyps and may develop chronic necrotizing granulomatous lesions affecting the nasal cavity, upper respiratory tract, and skin." []
synonym: "Bare lymphocyte syndrome 1" [UniProt]
synonym: "BLS I" [UniProt]
synonym: "BLS type I" [UniProt]
synonym: "BLS1" [UniProt]
synonym: "HLA class I deficiency" [UniProt]
xref: MedGen:C1858266
xref: MeSH:D007153
xref: MIM:604571 "phenotype"
[Term]
id: DI-00171
name: MHC class II deficiency 1
def: "An autosomal recessive immunologic disorder characterized by the loss of expression of MHC class II antigens on antigen-presenting cells. Affected individuals present in early infancy with severe recurrent bacterial, viral, fungal and parasitic infections, usually affecting the gastrointestinal and respiratory tracts." []
synonym: "Bare lymphocyte syndrome 2" [UniProt]
synonym: "Bare lymphocyte syndrome type II" [UniProt]
synonym: "Bare lymphocyte syndrome type II complementation group A" [UniProt]
synonym: "Bare lymphocyte syndrome type II complementation group B" [UniProt]
synonym: "Bare lymphocyte syndrome type II complementation group C" [UniProt]
synonym: "Bare lymphocyte syndrome type II complementation group D" [UniProt]
synonym: "Bare lymphocyte syndrome type II complementation group E" [UniProt]
synonym: "BLS II" [UniProt]
synonym: "BLS type II" [UniProt]
synonym: "BLS2" [UniProt]
synonym: "Hereditary MHC class II deficiency" [UniProt]
synonym: "HLA class II deficient combined immunodeficiency" [UniProt]
synonym: "Major histocompatibility complex class II deficiency" [UniProt]
synonym: "MHC-II deficiency" [UniProt]
synonym: "SCID HLA class II-negative" [UniProt]
synonym: "Severe combined immunodeficiency HLA class II-negative" [UniProt]
xref: MedGen:C0242583
xref: MedGen:C1859534
xref: MedGen:C1859535
xref: MedGen:C1859536
xref: MedGen:C1859537
xref: MedGen:C1859538
xref: MedGen:C2931418
xref: MeSH:D016511
xref: MIM:209920 "phenotype"
[Term]
id: DI-00172
name: Bart-Pumphrey syndrome
def: "An autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability." []
synonym: "Knuckle pads, leukonychia, and sensorineural deafness" [UniProt]
xref: MedGen:C0266004
xref: MeSH:D006319
xref: MeSH:D007645
xref: MIM:149200 "phenotype"
[Term]
id: DI-00173
name: Bartter syndrome 1, antenatal
def: "A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS1 is a life- threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia." []
synonym: "aBS1" [UniProt]
synonym: "Antenatal Bartter syndrome 1" [UniProt]
synonym: "BS1" [UniProt]
synonym: "Hyperprostaglandin E syndrome 1" [UniProt]
synonym: "Hypokalemic alkalosis with hypercalciuria antenatal 1" [UniProt]
xref: MedGen:C1866495
xref: MeSH:D001477
xref: MIM:601678 "phenotype"
[Term]
id: DI-00174
name: Bartter syndrome 2, antenatal
def: "A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS2 is a life- threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia." []
synonym: "aBS2" [UniProt]
synonym: "Antenatal Bartter syndrome 2" [UniProt]
synonym: "Bartter syndrome 2" [UniProt]
synonym: "BS2" [UniProt]
synonym: "Hyperprostanglandin E syndrome 2" [UniProt]
synonym: "Hypokalemic alkalosis with hypercalciuria antenatal 2" [UniProt]
xref: MedGen:C1855849
xref: MeSH:D001477
xref: MIM:241200 "phenotype"
[Term]
id: DI-00175
name: Bartter syndrome 3
def: "A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria." []
synonym: "Classic Bartter syndrome" [UniProt]
xref: MedGen:C1846343
xref: MedGen:C1846344
xref: MeSH:D001477
xref: MIM:607364 "phenotype"
[Term]
id: DI-00176
name: Bartter syndrome 4A, neonatal, with sensorineural deafness
def: "A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS4A is associated with sensorineural deafness." []
synonym: "Bartter syndrome, neonatal, with sensorineural deafness" [UniProt]
synonym: "BSND" [UniProt]
synonym: "Hyperprostanglandin E syndrome 4" [UniProt]
synonym: "Hypokalemic alkalosis with hypercalciuria antenatal 4" [UniProt]
synonym: "Infantile Bartter syndrome with sensorineural deafness" [UniProt]
synonym: "Sensorineural deafness with mild renal dysfunction" [UniProt]
xref: MedGen:C1865270
xref: MedGen:C2748440
xref: MeSH:D001477
xref: MIM:602522 "phenotype"
[Term]
id: DI-00177
name: Basal cell nevus syndrome 1
def: "A form of basal cell nevus syndrome, a disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. BCNS1 inheritance is autosomal dominant." []
synonym: "Basal cell nevus syndrome" [UniProt]
synonym: "Gorlin syndrome" [UniProt]
synonym: "Gorlin-Goltz syndrome" [UniProt]
synonym: "Multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies" [UniProt]
synonym: "NBCCS" [UniProt]
synonym: "Nevoid basal cell carcinoma syndrome" [UniProt]
xref: MedGen:C0004779
xref: MeSH:D001478
xref: MIM:109400 "phenotype"
[Term]
id: DI-00178
name: Becker muscular dystrophy
def: "A neuromuscular disorder characterized by dystrophin deficiency. It appears between the age of 5 and 15 years with a proximal motor deficiency of variable progression. Heart involvement can be the initial sign. Becker muscular dystrophy has a more benign course than Duchenne muscular dystrophy." []
xref: MedGen:C0917713
xref: MeSH:D020388
xref: MIM:300376 "phenotype"
[Term]
id: DI-00179
name: Beckwith-Wiedemann syndrome
def: "A disorder characterized by anterior abdominal wall defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmental defects and a predisposition to embryonal tumors." []
synonym: "EMG syndrome" [UniProt]
synonym: "Exomphalos-macroglossia-gigantism syndrome" [UniProt]
xref: MedGen:C0004903
xref: MeSH:D001506
xref: MIM:130650 "phenotype"
[Term]
id: DI-00180
name: Benign essential blepharospasm
def: "A primary focal dystonia affecting the orbicularis oculi muscles. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. BEB usually begins in middle age. Initial symptoms include eye irritation and frequent blinking, progressing to involuntary spasms of eyelid closure. Patients have normal eyes. The visual disturbance is due solely to the forced closure of the eyelids. In severe cases, this can lead to functional blindness." []
xref: MedGen:C0005747
xref: MedGen:C2930898
xref: MeSH:D001764
xref: MIM:606798 "phenotype"
[Term]
id: DI-00181
name: Seizures, benign familial infantile, 3
def: "A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS3 inheritance is autosomal dominant." []
synonym: "Benign familial infantile convulsions 3" [UniProt]
synonym: "Benign familial neonatal-infantile epilepsy" [UniProt]
synonym: "Benign familial neonatal-infantile seizures" [UniProt]
synonym: "BFIC3" [UniProt]
synonym: "BFNIS" [UniProt]
xref: MedGen:C1843140
xref: MeSH:D020936
xref: MIM:607745 "phenotype"
[Term]
id: DI-00182
name: Seizures, benign familial neonatal 1
def: "A disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age and show normal psychomotor development. Some rare cases manifest an atypical severe phenotype associated with epileptic encephalopathy and psychomotor retardation. The disorder is distinguished from benign familial infantile seizures by an earlier age at onset. In some patients, neonatal convulsions are followed later in life by myokymia, a benign condition characterized by spontaneous involuntary contractions of skeletal muscles fiber groups that can be observed as vermiform movement of the overlying skin. Electromyography typically shows continuous motor unit activity with spontaneous oligo- and multiplet-discharges of high intraburst frequency (myokymic discharges). Some patients may have isolated myokymia." []
synonym: "Benign familial neonatal convulsions 1" [UniProt]
synonym: "Benign neonatal epilepsy 1" [UniProt]
synonym: "Benign neonatal epilepsy 1 and/or myokymia" [UniProt]
synonym: "Benign neonatal epilepsy 1 with myokymia" [UniProt]
synonym: "Benign neonatal epilepsy atypical severe" [UniProt]
synonym: "BFNC/myokymia syndrome" [UniProt]
synonym: "BFNC1" [UniProt]
synonym: "Convulsions benign familial neonatal 1 with myokymia" [UniProt]
synonym: "EBN1" [UniProt]
synonym: "Myokymia isolated" [UniProt]
synonym: "Myokymia with neonatal epilepsy" [UniProt]
xref: MedGen:C1852587
xref: MedGen:C2751195
xref: MedGen:C3149074
xref: MedGen:C3149075
xref: MeSH:D020385
xref: MeSH:D020936
xref: MIM:121200 "phenotype"
[Term]
id: DI-00183
name: Seizures, benign familial neonatal 2
def: "A disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age and show normal psychomotor development. The disorder is distinguished from benign familial infantile seizures by an earlier age at onset." []
synonym: "Benign familial neonatal convulsions type 2" [UniProt]
synonym: "Benign neonatal epilepsy 2" [UniProt]
synonym: "BFNC2" [UniProt]
synonym: "EBN2" [UniProt]
xref: MedGen:C1852581
xref: MeSH:D020936
xref: MIM:121201 "phenotype"
[Term]
id: DI-00185
name: Cholestasis, benign recurrent intrahepatic, 1
def: "A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically." []
synonym: "Recurrent familial intrahepatic cholestasis" [UniProt]
synonym: "Summerskill syndrome" [UniProt]
xref: MedGen:C1855731
xref: MeSH:D002780
xref: MIM:243300 "phenotype"
[Term]
id: DI-00186
name: Cholestasis, benign recurrent intrahepatic, 2
def: "A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically." []
xref: MedGen:C2608083
xref: MeSH:D002780
xref: MIM:605479 "phenotype"
[Term]
id: DI-00187
name: Bestrophinopathy, autosomal recessive
def: "A retinopathy characterized by loss of central vision, an absent electro-oculogram light rise, and electroretinogram anomalies." []
synonym: "Bestrophinopathy" [UniProt]
synonym: "Retinopathy Burgess-Black type" [UniProt]
xref: MedGen:C2678493
xref: MeSH:D012164
xref: MIM:611809 "phenotype"
[Term]
id: DI-00188
name: Bethlem myopathy 1A
def: "A form of Bethlem myopathy, a slowly progressive muscular dystrophy characterized by joint contractures, most frequently affecting the elbows and ankles, and muscle weakness and wasting involving the proximal and extensor muscles more than the distal and flexor ones. The clinical onset more often occurs in childhood or adulthood, but it can be prenatal with decreased fetal movements or neonatal with hypotonia. The hallmark of Bethlem myopathy is long finger flexion contractures. Inheritance can be autosomal dominant or autosomal recessive." []
synonym: "Bethlem myopathy" [UniProt]
synonym: "Muscular dystrophy, benign congenital" [UniProt]
synonym: "Myopathy, benign congenital, with contractures" [UniProt]
xref: MedGen:C1834674
xref: MeSH:D009136
xref: MIM:158810 "phenotype"
[Term]
id: DI-00189
name: Biotinidase deficiency
def: "A juvenile form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. Biotinidase deficiency is characterized by seizures, hypotonia, skin rash, alopecia, ataxia, hearing loss, and optic atrophy. If untreated, symptoms usually become progressively worse, and coma and death may occur." []
synonym: "Late-onset MCD" [UniProt]
synonym: "Late-onset multiple carboxylase deficiency" [UniProt]
synonym: "MCD juvenile form" [UniProt]
synonym: "Multiple carboxylase deficiency, juvenile-onset" [UniProt]
synonym: "Multiple carboxylase deficiency, late-onset" [UniProt]
xref: MedGen:C0220754
xref: MedGen:C1854698
xref: MeSH:D028921
xref: MIM:253260 "phenotype"
[Term]
id: DI-00190
name: Birt-Hogg-Dube syndrome 1
def: "A form of Birt-Hogg-Dube syndrome, a rare genodermatosis usually manifesting in adulthood and characterized by multiple fibrofolliculomas, trichodiscomas, and acrochordons. Patients with this syndrome have an increased susceptibility to develop renal cell carcinoma, lung cysts, and spontaneous pneumothorax. Inheritance is autosomal dominant." []
synonym: "Fibrofolliculomas with trichodiscomas and acrochordons" [UniProt]
synonym: "Hornstein-Knickenberg syndrome" [UniProt]
xref: MedGen:C0346010
xref: MeSH:D058249
xref: MIM:135150 "phenotype"
[Term]
id: DI-00191
name: Bloom syndrome
def: "An autosomal recessive disorder. It is characterized by proportionate pre- and postnatal growth deficiency, sun-sensitive telangiectatic hypo- and hyperpigmented skin, predisposition to malignancy, and chromosomal instability." []
synonym: "BLS" [UniProt]
synonym: "BS" [UniProt]
synonym: "MGRISCE1" [UniProt]
synonym: "Microcephaly, growth restriction, and increased sister chromatid exchange 1" [UniProt]
xref: MedGen:C0005859
xref: MeSH:D001816
xref: MIM:210900 "phenotype"
[Term]
id: DI-00192
name: Boerjeson-Forssman-Lehmann syndrome
def: "An X-linked recessive disorder characterized by moderate to severe intellectual disability, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears." []
synonym: "BORJ" [UniProt]
synonym: "Borjeson-Forssman syndrome" [UniProt]
synonym: "Mental deficiency-epilepsy- endocrine disorders" [UniProt]
xref: MedGen:C0265339
xref: MeSH:D008607
xref: MIM:301900 "phenotype"
[Term]
id: DI-00193
name: Bothnia retinal dystrophy
def: "A type of retinitis punctata albescens. Affected individuals show night blindness from early childhood with features consistent with retinitis punctata albescens and macular degeneration." []
synonym: "Vasterbotten dystrophy" [UniProt]
xref: MedGen:C1843816
xref: MeSH:D058499
xref: MIM:607475 "phenotype"
[Term]
id: DI-00194
name: Brachydactyly A1
def: "A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. BDA1 inheritance is autosomal dominant." []
synonym: "Farabee-type brachydactyly" [UniProt]
xref: MedGen:C1862151
xref: MeSH:D059327
xref: MIM:112500 "phenotype"
[Term]
id: DI-00195
name: Brachydactyly A2
def: "A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected middle phalanx, the end of the second finger usually deviates radially." []
synonym: "Brachymesophalangy II" [UniProt]
synonym: "Mohr-Wriedt type brachydactyly" [UniProt]
xref: MedGen:C1832702
xref: MeSH:D059327
xref: MIM:112600 "phenotype"
[Term]
id: DI-00196
name: Brachydactyly B1
def: "A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type B1 the middle phalanges are short but in addition the terminal phalanges are rudimentary or absent. Both fingers and toes are affected. The thumbs and big toes are usually deformed. Symphalangism is also a feature." []
synonym: "BDB" [UniProt]
synonym: "Brachydactyly type B" [UniProt]
xref: MedGen:C1862112
xref: MeSH:D059327
xref: MIM:113000 "phenotype"
[Term]
id: DI-00197
name: Brachydactyly C
def: "A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type C is characterized by deformity of the middle and proximal phalanges of the second and third fingers, sometimes with hypersegmentation of the proximal phalanx. The ring finger may be essentially normal and project beyond the others." []
synonym: "Brachydactyly Haws type" [UniProt]
xref: MedGen:C1862103
xref: MeSH:D059327
xref: MIM:113100 "phenotype"
[Term]
id: DI-00198
name: Brachydactyly D
def: "A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type D is characterized by short and broad terminal phalanges of the thumbs and big toes." []
synonym: "Stub thumb" [UniProt]
xref: MedGen:C0220664
xref: MeSH:D059327
xref: MIM:113200 "phenotype"
[Term]
id: DI-00199
name: Brachydactyly E1
def: "A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. Wide variability in the number of digits affected occurs from person to person, even in the same family. Some individuals are moderately short of stature. Brachydactyly type E1 is characterized by shortening limited to fourth metacarpals and/or metatarsals." []
synonym: "BDE" [UniProt]
synonym: "Brachydactyly type E" [UniProt]
xref: MedGen:C1862102
xref: MeSH:D059327
xref: MIM:113300 "phenotype"
[Term]
id: DI-00200
name: Brody disease
def: "An autosomal recessive muscular disorder characterized by exercise- induced muscle stiffness and cramps primarily affecting the arms, legs, and eyelids, although more generalized muscle involvement may also occur." []
synonym: "Brody myopathy" [UniProt]
xref: MedGen:C1832918
xref: MeSH:D009120
xref: MIM:601003 "phenotype"
[Term]
id: DI-00201
name: Brooke-Spiegler syndrome
def: "An autosomal dominant disorder characterized by the appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These tumors are typically located in the head and neck region, appear in early adulthood, and gradually increase in size and number throughout life." []
synonym: "BSS" [UniProt]
synonym: "SBS" [UniProt]
synonym: "Spiegler-Brooke syndrome" [UniProt]
xref: MedGen:C1857941
xref: MeSH:D018280
xref: MIM:605041 "phenotype"
[Term]
id: DI-00202
name: Brugada syndrome 1
def: "A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset." []
xref: MedGen:C1142166
xref: MedGen:CN029323
xref: MeSH:D053840
xref: MIM:601144 "phenotype"
[Term]
id: DI-00203
name: Brugada syndrome 2
def: "A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset." []
xref: MedGen:C2673193
xref: MeSH:D053840
xref: MIM:611777 "phenotype"
[Term]
id: DI-00204
name: Brugada syndrome 3
def: "A heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset." []
xref: MedGen:C2678478
xref: MeSH:D053840
xref: MIM:611875 "phenotype"
[Term]
id: DI-00205
name: Brugada syndrome 4
def: "A heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset." []
xref: MedGen:C2678477
xref: MeSH:D053840
xref: MIM:611876 "phenotype"
[Term]
id: DI-00206
name: Brunner syndrome
def: "A form of X-linked non-dysmorphic mild intellectual disability. Male patients are affected by borderline intellectual deficit and exhibit abnormal behavior, including disturbed regulation of impulsive aggression. Obligate female carriers have normal intelligence and behavior." []
synonym: "Susceptibility to antisocial behavior" [UniProt]
xref: MedGen:C0796275
xref: MeSH:D008607
xref: MIM:300615 "phenotype"
[Term]
id: DI-00207
name: Epidermolytic hyperkeratosis 1
def: "A skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop. EHK1 inheritance is autosomal dominant or autosomal recessive." []
synonym: "BCIE" [UniProt]
synonym: "BIE" [UniProt]
synonym: "Bullous congenital ichthyosiform erythroderma" [UniProt]
synonym: "Bullous erythroderma ichthyosiformis congenita of Brocq" [UniProt]
synonym: "Bullous ichthyosiform erythroderma" [UniProt]
synonym: "Epidermolytic hyperkeratosis late-onset" [UniProt]
xref: MedGen:C0079153
xref: MedGen:C1862005
xref: MeSH:D017488
xref: MIM:113800 "phenotype"
[Term]
id: DI-00208
name: Canavan disease
def: "A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demyelination that gives rise to a spongy appearance. The clinical features are onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average." []
synonym: "ACY2 deficiency" [UniProt]
synonym: "Aminoacylase 2 deficiency" [UniProt]
synonym: "ASPA deficiency" [UniProt]
synonym: "Aspartoacylase deficiency" [UniProt]
synonym: "Canavan-van Bogaert-Bertrand disease" [UniProt]
synonym: "Spongy degeneration of central nervous system" [UniProt]
xref: MedGen:C0206307
xref: MedGen:CN068568
xref: MedGen:CN203803
xref: MedGen:CN203804
xref: MeSH:D017825
xref: MIM:271900 "phenotype"
[Term]
id: DI-00209
name: Carbamoyl phosphate synthetase 1 deficiency
def: "An autosomal recessive disorder of the urea cycle causing hyperammonemia. It can present as a devastating metabolic disease dominated by severe hyperammonemia in neonates or as a more insidious late-onset condition, generally manifesting as life-threatening hyperammonemic crises under catabolic situations. Clinical features include protein intolerance, intermittent ataxia, seizures, lethargy, developmental delay and intellectual disability." []
synonym: "Carbamoyl phosphate synthetase I deficiency" [UniProt]
synonym: "CPS I deficiency" [UniProt]
synonym: "Hyperammonemia due to carbamoyl phosphate synthetase I deficiency" [UniProt]
xref: MedGen:C0751753
xref: MeSH:D020165
xref: MIM:237300 "phenotype"
[Term]
id: DI-00210
name: Cardiomyopathy, dilated, 1A
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
synonym: "Cardiomyopathy dilated with conduction defect 1" [UniProt]
synonym: "CDCD1" [UniProt]
xref: MedGen:C1449563
xref: MeSH:D002311
xref: MIM:115200 "phenotype"
[Term]
id: DI-00211
name: Cardiomyopathy, dilated, 1AA, with or without left ventricular non-compaction
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C2677338
xref: MeSH:D002311
xref: MIM:612158 "phenotype"
[Term]
id: DI-00212
name: Cardiomyopathy, dilated, 1C, with or without left ventricular non-compaction
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Cardiomyopathy dilated type 1C is associated with left ventricular non-compaction in some patients. Left ventricular non-compaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle." []
synonym: "Cardiomyopathy dilated with left ventricular noncompaction" [UniProt]
xref: MedGen:C1832244
xref: MedGen:C1853863
xref: MeSH:D002311
xref: MIM:601493 "phenotype"
[Term]
id: DI-00213
name: Cardiomyopathy, dilated, 1D
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C1832243
xref: MeSH:D002311
xref: MIM:601494 "phenotype"
[Term]
id: DI-00214
name: Cardiomyopathy, dilated, 1E
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
synonym: "CDCD2" [UniProt]
synonym: "Dilated cardiomyopathy with conduction defect 2" [UniProt]
synonym: "Dilated cardiomyopathy with conduction disorder and arrhythmia" [UniProt]
xref: MedGen:C1832680
xref: MeSH:D002311
xref: MIM:601154 "phenotype"
[Term]
id: DI-00215
name: Cardiomyopathy, dilated, 1G
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C1858763
xref: MeSH:D002311
xref: MIM:604145 "phenotype"
[Term]
id: DI-00216
name: Cardiomyopathy, dilated, 1I
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C1858154
xref: MeSH:D002311
xref: MIM:604765 "phenotype"
[Term]
id: DI-00217
name: Cardiomyopathy, dilated, 1J
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1J is characterized by the association of sensorineural hearing loss and dilated cardiomyopathy in the absence of other anomalies." []
synonym: "Cardiomyopathy dilated with sensorineural hearing loss autosomal dominant" [UniProt]
xref: MedGen:C1854368
xref: MeSH:D002311
xref: MIM:605362 "phenotype"
[Term]
id: DI-00218
name: Cardiomyopathy, dilated, 1L
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C1847667
xref: MeSH:D002311
xref: MIM:606685 "phenotype"
[Term]
id: DI-00219
name: Cardiomyopathy, dilated, 1M
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C1843808
xref: MeSH:D002311
xref: MIM:607482 "phenotype"
[Term]
id: DI-00220
name: Cardiomyopathy, familial hypertrophic, 25
def: "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death." []
synonym: "Cardiomyopathy, dilated, 1N" [UniProt]
synonym: "CMD1N" [UniProt]
xref: MedGen:C1843791
xref: MeSH:D024741
xref: MIM:607487 "phenotype"
[Term]
id: DI-00221
name: Cardiomyopathy, dilated, 1O
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
synonym: "Dilated cardiomyopathy with ventricular tachycardia" [UniProt]
xref: MedGen:C1837839
xref: MeSH:D002311
xref: MIM:608569 "phenotype"
[Term]
id: DI-00222
name: Cardiomyopathy, dilated, 1P
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C1835928
xref: MeSH:D002311
xref: MIM:609909 "phenotype"
[Term]
id: DI-00223
name: Cardiomyopathy, dilated, 1R
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C3150681
xref: MedGen:C3150682
xref: MeSH:D002311
xref: MIM:613424 "phenotype"
[Term]
id: DI-00224
name: Cardiomyopathy, dilated, 1S
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C1834481
xref: MedGen:C3150690
xref: MeSH:D002311
xref: MIM:613426 "phenotype"
[Term]
id: DI-00225
name: Cardiomyopathy, dilated, 1W
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C1969639
xref: MeSH:D002311
xref: MIM:611407 "phenotype"
[Term]
id: DI-00226
name: Cardiomyopathy, dilated, 1Y
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C2678476
xref: MeSH:D002311
xref: MIM:611878 "phenotype"
[Term]
id: DI-00227
name: Cardiomyopathy, dilated, 1X
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
synonym: "Dilated cardiomyopathy with mild or no proximal muscle weakness" [UniProt]
xref: MedGen:C1969024
xref: MeSH:D002311
xref: MIM:611615 "phenotype"
[Term]
id: DI-00228
name: Cardiomyopathy, dilated, 1Z
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C2678475
xref: MeSH:D002311
xref: MIM:611879 "phenotype"
[Term]
id: DI-00229
name: Cardiomyopathy, dilated, 2A
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C2678474
xref: MeSH:D002311
xref: MIM:611880 "phenotype"
[Term]
id: DI-00230
name: Cardiomyopathy, dilated, with woolly hair and keratoderma
def: "An autosomal recessive cardiocutaneous syndrome characterized by a generalized striate keratoderma particularly affecting the palmoplantar epidermis, woolly hair, and dilated left ventricular cardiomyopathy." []
synonym: "Carvajal syndrome" [UniProt]
synonym: "Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair" [UniProt]
xref: MedGen:C1854063
xref: MeSH:D002311
xref: MIM:605676 "phenotype"
[Term]
id: DI-00231
name: Cardiomyopathy, dilated, 3B
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD3B is an X-linked disorder." []
synonym: "X-linked dilated cardiomyopathy" [UniProt]
synonym: "XLCM" [UniProt]
xref: MedGen:C3714570
xref: MedGen:CN128796
xref: MeSH:D002311
xref: MIM:302045 "phenotype"
[Term]
id: DI-00232
name: Cardiomyopathy, familial hypertrophic
def: "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death." []
synonym: "ASH" [UniProt]
synonym: "Asymmetric septal hypertrophy" [UniProt]
synonym: "Familial hypertrophic cardiomyopathy" [UniProt]
synonym: "FHC" [UniProt]
synonym: "HCM" [UniProt]
synonym: "Hypertrophic cardiomyopathy" [UniProt]
synonym: "Hypertrophic subaortic stenosis, idiopathic" [UniProt]
synonym: "Ventricular hypertrophy, hereditary" [UniProt]
xref: MedGen:C0205700
xref: MedGen:C0597124
xref: MedGen:C0700053
xref: MeSH:D024741
xref: MIM:192600 "phenotype"
[Term]
id: DI-00233
name: Cardiomyopathy, familial hypertrophic, 1
def: "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death." []
xref: MedGen:C3495498
xref: MedGen:CN030093
xref: MeSH:D024741
xref: MIM:192600 "phenotype"
[Term]
id: DI-00234
name: Cardiomyopathy, familial hypertrophic, 2
def: "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death." []
xref: MedGen:C1861864
xref: MeSH:D024741
xref: MIM:115195 "phenotype"
[Term]
id: DI-00235
name: Cardiomyopathy, familial hypertrophic, 3
def: "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death." []
xref: MedGen:C1861863
xref: MeSH:D024741
xref: MIM:115196 "phenotype"
[Term]
id: DI-00236
name: Cardiomyopathy, familial hypertrophic, 4
def: "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death." []
xref: MedGen:C1861862
xref: MedGen:C2751427
xref: MeSH:D024741
xref: MIM:115197 "phenotype"
[Term]
id: DI-00237
name: Cardiomyopathy, familial hypertrophic, 7
def: "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death." []
xref: MedGen:CN069699
xref: MeSH:D024741
xref: MIM:613690 "phenotype"
[Term]
id: DI-00238
name: Cardiomyopathy, familial hypertrophic, 8
def: "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Rarely, patients present a variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening." []
synonym: "Familial hypertrophic cardiomyopathy with mid-left ventricular chamber type 1" [UniProt]
synonym: "MVC1" [UniProt]
xref: MedGen:C1837471
xref: MeSH:D024741
xref: MIM:608751 "phenotype"
[Term]
id: DI-00239
name: Cardiomyopathy, familial hypertrophic, 9
def: "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death." []
xref: MedGen:C1861065
xref: MeSH:D024741
xref: MIM:613765 "phenotype"
[Term]
id: DI-00240
name: Cardiomyopathy, familial hypertrophic, 10
def: "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Rarely, patients present a variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening." []
synonym: "Familial hypertrophic cardiomyopathy with mid-left ventricular chamber type 2" [UniProt]
synonym: "MVC2" [UniProt]
xref: MedGen:C1834460
xref: MeSH:D024741
xref: MIM:608758 "phenotype"
[Term]
id: DI-00241
name: Cardiomyopathy, familial hypertrophic, 11
def: "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death." []
xref: MedGen:C2677506
xref: MeSH:D024741
xref: MIM:612098 "phenotype"
[Term]
id: DI-00242
name: Cardiomyopathy, familial hypertrophic, 12
def: "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death." []
xref: MedGen:CN029460
xref: MeSH:D024741
xref: MIM:612124 "phenotype"
[Term]
id: DI-00245
name: Cardiomyopathy, familial hypertrophic, 6
def: "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH6 patients present Wolff-Parkinson-White ventricular preexcitation, enlarged myocytes without myofiber disarray, and glycogen-containing cytosolic vacuoles within cardiomyocytes." []
synonym: "Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome" [UniProt]
xref: MedGen:C1833236
xref: MeSH:D024741
xref: MIM:600858 "phenotype"
[Term]
id: DI-00246
name: Cardiomyopathy, familial restrictive 1
def: "A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function." []
xref: MedGen:C1861861
xref: MeSH:D002313
xref: MIM:115210 "phenotype"
[Term]
id: DI-00247
name: Cardiomyopathy, familial restrictive 3
def: "A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function." []
xref: MedGen:C2676271
xref: MeSH:D002313
xref: MIM:612422 "phenotype"
[Term]
id: DI-00248
name: Cardiomyopathy, infantile histiocytoid
def: "A heart disease characterized by the presence of pale granular foamy histiocyte-like cells within the myocardium. It usually affects children younger than 2 years of age, with a clear predominance of females over males. Infants present with dysrhythmia or cardiac arrest. The clinical course is usually fulminant, sometimes simulating sudden infant death syndrome." []
synonym: "Cardiomyopathy focal lipid" [UniProt]
synonym: "Cardiomyopathy infantile xanthomatous" [UniProt]
synonym: "Cardiomyopathy oncocytic" [UniProt]
xref: MedGen:C1708371
xref: MeSH:D009202
xref: MIM:500000 "phenotype"
[Term]
id: DI-00249
name: Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy
def: "An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT1 inheritance is autosomal dominant." []
synonym: "Bidirectional tachycardia" [UniProt]
synonym: "Double tachycardia induced by catecholamines" [UniProt]
synonym: "Malignant paroxysmal ventricular tachycardia" [UniProt]
synonym: "Multifocal ventricular premature beats" [UniProt]
synonym: "Paroxysmal ventricular fibrillation" [UniProt]
synonym: "Stress-induced polymorphic ventricular tachycardia" [UniProt]
synonym: "Syncopal paroxysmal tachycardia" [UniProt]
synonym: "Syncopal tachyarythmia" [UniProt]
synonym: "Ventricular tachycardia catecholaminergic polymorphic 1" [UniProt]
synonym: "Ventricular tachycardia, stress-induced polymorphic 1" [UniProt]
synonym: "VTSIP" [UniProt]
synonym: "VTSIP1" [UniProt]
xref: MedGen:C1631597
xref: MeSH:D017180
xref: MIM:604772 "phenotype"
[Term]
id: DI-00250
name: Ventricular tachycardia, catecholaminergic polymorphic, 2
def: "An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT2 inheritance is autosomal recessive." []
synonym: "Ventricular tachycardia, stress-induced polymorphic 2" [UniProt]
synonym: "VTSIP2" [UniProt]
xref: MedGen:C2677794
xref: MeSH:D017180
xref: MIM:611938 "phenotype"
[Term]
id: DI-00251
name: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
def: "A neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma." []
synonym: "CEDNIK syndrome" [UniProt]
xref: MedGen:C1836033
xref: MeSH:D007057
xref: MeSH:D007645
xref: MeSH:D020752
xref: MIM:609528 "phenotype"
[Term]
id: DI-00252
name: Myopathy, centronuclear, 1
def: "A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers." []
synonym: "Autosomal dominant myotubular myopathy" [UniProt]
synonym: "Centronuclear myopathy autosomal dominant" [UniProt]
xref: MedGen:C1834558
xref: MeSH:D020914
xref: MIM:160150 "phenotype"
[Term]
id: DI-00253
name: Myopathy, centronuclear, 2
def: "A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers." []
synonym: "Autosomal recessive myotubular myopathy" [UniProt]
synonym: "Centronuclear myopathy autosomal recessive" [UniProt]
xref: MedGen:C0410204
xref: MeSH:D020914
xref: MIM:255200 "phenotype"
[Term]
id: DI-00254
name: Myopathy, centronuclear, X-linked
def: "A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers." []
synonym: "MTM1" [UniProt]
synonym: "Myotubular myopathy type 1" [UniProt]
synonym: "X-linked myotubular myopathy" [UniProt]
synonym: "XLMTM" [UniProt]
xref: MedGen:C0410203
xref: MeSH:D020914
xref: MIM:310400 "phenotype"
[Term]
id: DI-00255
name: Cerebral cavernous malformations 1
def: "A form of cerebral cavernous malformations, a congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. CCM1 inheritance is autosomal dominant." []
synonym: "Cavernous angiomatous malformations" [UniProt]
synonym: "Cavernous hemangioma of the brain" [UniProt]
synonym: "Cerebral capillary malformations" [UniProt]
synonym: "Cerebral cavernoma" [UniProt]
synonym: "Familial cavernous angioma" [UniProt]
xref: MedGen:C1861784
xref: MedGen:C1861785
xref: MedGen:C1861786
xref: MedGen:C2919945
xref: MedGen:CN042719
xref: MeSH:D020786
xref: MIM:116860 "phenotype"
[Term]
id: DI-00256
name: Cerebral cavernous malformations 2
def: "A form of cerebral cavernous malformations, a congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. CCM2 inheritance is autosomal dominant." []
synonym: "Cavernous angiomatous malformations" [UniProt]
synonym: "Cavernous hemangioma of the brain" [UniProt]
synonym: "Cerebral capillary malformations" [UniProt]
synonym: "Cerebral cavernoma" [UniProt]
synonym: "Familial cavernous angioma" [UniProt]
xref: MedGen:C1864041
xref: MeSH:D020786
xref: MIM:603284 "phenotype"
[Term]
id: DI-00257
name: Cerebral cavernous malformations 3
def: "A form of cerebral cavernous malformations, a congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. CCM3 inheritance is autosomal dominant." []
synonym: "Cavernous angiomatous malformations" [UniProt]
synonym: "Cavernous hemangioma of the brain" [UniProt]
synonym: "Cerebral capillary malformations" [UniProt]
synonym: "Cerebral cavernoma" [UniProt]
synonym: "Familial cavernous angioma" [UniProt]
xref: MedGen:C1864040
xref: MeSH:D020786
xref: MIM:603285 "phenotype"
[Term]
id: DI-00258
name: Cerebro-oculo-facio-skeletal syndrome 1
def: "A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome." []
synonym: "COFS syndrome" [UniProt]
synonym: "Pena-Shokeir syndrome type 2" [UniProt]
xref: MedGen:C0220722
xref: MeSH:D001176
xref: MeSH:D002386
xref: MeSH:D005124
xref: MeSH:D008831
xref: MIM:214150 "phenotype"
[Term]
id: DI-00259
name: Cerebro-oculo-facio-skeletal syndrome 2
def: "A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome." []
synonym: "COFS syndrome" [UniProt]
xref: MedGen:C1853102
xref: MeSH:D001176
xref: MeSH:D002386
xref: MeSH:D005124
xref: MeSH:D008831
xref: MIM:610756 "phenotype"
[Term]
id: DI-00260
name: Cerebro-oculo-facio-skeletal syndrome 4
def: "A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome." []
synonym: "COFS syndrome" [UniProt]
xref: MedGen:C1853100
xref: MeSH:D001176
xref: MeSH:D002386
xref: MeSH:D005124
xref: MeSH:D008831
xref: MIM:610758 "phenotype"
[Term]
id: DI-00261
name: Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations
def: "An adult-onset, autosomal dominant endotheliopathy affecting the microvessels of the brain. It results in central nervous system degeneration and retinopathy, with progressive loss of vision, stroke, motor impairment, and cognitive decline. The ocular manifestations are characterized by telangiectasias, microaneurysms and retinal capillary obliteration starting in the macula. Diseased cerebral white matter has prominent small infarcts that often coalesce to pseudotumors. A subset of patients have systemic vascular involvement that can manifest as Raynaud phenomenon, micronodular cirrhosis, and glomerular dysfunction." []
synonym: "Cerebroretinal vasculopathy" [UniProt]
synonym: "CRV" [UniProt]
synonym: "Hereditary endotheliopathy with retinopathy-nephropathy-stroke" [UniProt]
synonym: "HERNS" [UniProt]
synonym: "Vascular retinopathy with cerebral and renal involvement and Raynaud and migraine phenomena" [UniProt]
xref: MedGen:C1860518
xref: MeSH:D002561
xref: MeSH:D012164
xref: MIM:192315 "phenotype"
[Term]
id: DI-00262
name: Chanarin-Dorfman syndrome
def: "An autosomal recessive inborn error of lipid metabolism with multisystemic accumulation of triglycerides although plasma concentrations are normal. Clinical characteristics are congenital generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay. The disorder presents at birth with generalized, fine, white scaling of the skin and a variable degree of erythema resembling non-bullous congenital ichthyosiform erythroderma." []
synonym: "DCS" [UniProt]
synonym: "Dorfman-Chanarin syndrome" [UniProt]
synonym: "Ichthyosiform erythroderma with leukocyte vacuolation" [UniProt]
synonym: "Ichthyotic neutral lipid storage disease" [UniProt]
synonym: "Neutral lipid storage disease with ichthyosis" [UniProt]
synonym: "Triglyceride storage disease with impaired long-chain fatty acid oxidation" [UniProt]
xref: MedGen:C0268238
xref: MeSH:D008052
xref: MeSH:D016113
xref: MIM:275630 "phenotype"
[Term]
id: DI-00263
name: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
def: "A form of Charcot-Marie-Tooth disease characterized by the association of axonal neuropathy with vocal cord paresis. Charcot-Marie-Tooth disease is a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms." []
synonym: "Charcot-Marie-Tooth axonal type 4A" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy axonal with vocal cord paresis autosomal recessive" [UniProt]
synonym: "CMT2 with vocal cord paresis autosomal recessive" [UniProt]
xref: MedGen:C1843183
xref: MeSH:D002607
xref: MIM:607706 "phenotype"
[Term]
id: DI-00264
name: Charcot-Marie-Tooth disease, dominant intermediate B
def: "A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type B is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec." []
synonym: "Charcot-Marie-Tooth neuropathy dominant intermediate B" [UniProt]
synonym: "CMTDI1" [UniProt]
synonym: "DI-CMTB" [UniProt]
xref: MedGen:C1847902
xref: MeSH:D002607
xref: MIM:606482 "phenotype"
[Term]
id: DI-00265
name: Charcot-Marie-Tooth disease, dominant intermediate C
def: "A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type C is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec." []
xref: MedGen:C1842237
xref: MeSH:D002607
xref: MIM:608323 "phenotype"
[Term]
id: DI-00266
name: Charcot-Marie-Tooth disease, dominant intermediate D
def: "A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type D is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec." []
xref: MedGen:C1843075
xref: MeSH:D002607
xref: MIM:607791 "phenotype"
[Term]
id: DI-00267
name: Charcot-Marie-Tooth disease, recessive intermediate A
def: "A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec." []
synonym: "Charcot-Marie-Tooth neuropathy recessive intermediate A" [UniProt]
synonym: "RI-CMTA" [UniProt]
xref: MedGen:C1842197
xref: MeSH:D002607
xref: MIM:608340 "phenotype"
[Term]
id: DI-00268
name: Charcot-Marie-Tooth disease, demyelinating, 1A
def: "A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet." []
synonym: "Charcot-Marie-Tooth disease demyelinating type 1A" [UniProt]
synonym: "Charcot-Marie-Tooth disease slow nerve conduction type unlinked to Duffy" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 1A" [UniProt]
synonym: "Hereditary motor and sensory neuropathy IA" [UniProt]
synonym: "HMSN IA" [UniProt]
synonym: "HMSN1A" [UniProt]
xref: MedGen:C0270911
xref: MedGen:CN069173
xref: MeSH:D002607
xref: MeSH:D015417
xref: MIM:118220 "phenotype"
[Term]
id: DI-00269
name: Charcot-Marie-Tooth disease, demyelinating, 1B
def: "A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet." []
synonym: "Charcot-Marie-Tooth disease demyelinating type 1B" [UniProt]
synonym: "Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 1B" [UniProt]
synonym: "Hereditary motor and sensory neuropathy IB" [UniProt]
synonym: "HMSN IB" [UniProt]
synonym: "HMSN1B" [UniProt]
synonym: "Peroneal muscular atrophy" [UniProt]
xref: MedGen:C0270912
xref: MeSH:D002607
xref: MeSH:D015417
xref: MIM:118200 "phenotype"
[Term]
id: DI-00270
name: Charcot-Marie-Tooth disease, demyelinating, 1C
def: "A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet." []
synonym: "Charcot-Marie-Tooth disease demyelinating type 1C" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 1C" [UniProt]
synonym: "Hereditary motor and sensory neuropathy IC" [UniProt]
synonym: "HMSN IC" [UniProt]
synonym: "HMSN1C" [UniProt]
xref: MedGen:C0270913
xref: MedGen:C1832775
xref: MedGen:CN068843
xref: MedGen:CN068844
xref: MeSH:D002607
xref: MeSH:D015417
xref: MIM:601098 "phenotype"
[Term]
id: DI-00271
name: Charcot-Marie-Tooth disease, demyelinating, 1D
def: "A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet." []
synonym: "Charcot-Marie-Tooth disease demyelinating type 1D" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 1D" [UniProt]
synonym: "Hereditary motor and sensory neuropathy ID" [UniProt]
synonym: "HMSN ID" [UniProt]
synonym: "HMSN1D" [UniProt]
xref: MedGen:C1843247
xref: MeSH:D002607
xref: MeSH:D015417
xref: MIM:607678 "phenotype"
[Term]
id: DI-00272
name: Charcot-Marie-Tooth disease, demyelinating, 1E
def: "An autosomal dominant form of Charcot-Marie-Tooth disease characterized by the association of sensorineural hearing loss with peripheral demyelinating neuropathy." []
synonym: "Charcot-Marie-Tooth disease and deafness autosomal dominant" [UniProt]
synonym: "Charcot-Marie-Tooth disease demyelinating type 1E" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 1E" [UniProt]
xref: MedGen:C1861669
xref: MedGen:C3495591
xref: MeSH:D002607
xref: MIM:118300 "phenotype"
[Term]
id: DI-00273
name: Charcot-Marie-Tooth disease, demyelinating, 1F
def: "A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1F is characterized by onset in infancy or childhood (range 1 to 13 years)." []
synonym: "Charcot-Marie-Tooth disease demyelinating type 1F" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 1F" [UniProt]
xref: MedGen:C1843164
xref: MeSH:D002607
xref: MIM:607734 "phenotype"
[Term]
id: DI-00274
name: Charcot-Marie-Tooth disease, axonal, 2A1
def: "A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy." []
synonym: "Charcot-Marie-Tooth disease axonal type 2A1" [UniProt]
synonym: "Charcot-Marie-Tooth disease neuronal type 2A1" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 2A1" [UniProt]
synonym: "Hereditary motor and sensory neuropathy IIA1" [UniProt]
synonym: "HMSN IIA1" [UniProt]
synonym: "HMSN2A1" [UniProt]
xref: MedGen:C1861678
xref: MeSH:D002607
xref: MeSH:D015417
xref: MIM:118210 "phenotype"
[Term]
id: DI-00275
name: Charcot-Marie-Tooth disease, axonal, 2A2A
def: "An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy." []
synonym: "Charcot-Marie-Tooth disease axonal type 2A2" [UniProt]
synonym: "Charcot-Marie-Tooth disease neuronal type 2A2" [UniProt]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2A" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 2A2" [UniProt]
synonym: "CMT2A2" [UniProt]
synonym: "Hereditary motor and sensory neuropathy IIA2" [UniProt]
synonym: "HMSN IIA2" [UniProt]
synonym: "HMSN2A2" [UniProt]
xref: MedGen:C1836485
xref: MeSH:D002607
xref: MeSH:D015417
xref: MIM:609260 "phenotype"
[Term]
id: DI-00276
name: Charcot-Marie-Tooth disease, axonal, 2B
def: "A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy." []
synonym: "Charcot-Marie-Tooth disease axonal type 2B" [UniProt]
synonym: "Charcot-Marie-Tooth disease neuronal type 2B" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 2B" [UniProt]
synonym: "Hereditary motor and sensory neuropathy IIB" [UniProt]
synonym: "HMSN IIB" [UniProt]
synonym: "HMSN2B" [UniProt]
synonym: "Peripheral sensory neuropathy autosomal dominant" [UniProt]
synonym: "PSN" [UniProt]
xref: MedGen:C1833219
xref: MeSH:D002607
xref: MeSH:D015417
xref: MIM:600882 "phenotype"
[Term]
id: DI-00277
name: Charcot-Marie-Tooth disease, axonal, 2B1
def: "A recessive axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy." []
synonym: "Charcot-Marie-Tooth disease axonal autosomal recessive B1" [UniProt]
synonym: "Charcot-Marie-Tooth disease axonal type 2B1" [UniProt]
synonym: "Charcot-Marie-Tooth disease neuronal type 2B1" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 2B1" [UniProt]
xref: MedGen:C1854154
xref: MeSH:D002607
xref: MIM:605588 "phenotype"
[Term]
id: DI-00278
name: Charcot-Marie-Tooth disease, axonal, 2D
def: "A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy." []
synonym: "Charcot-Marie-Tooth disease axonal type 2D" [UniProt]
synonym: "Charcot-Marie-Tooth disease neuronal type 2D" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 2D" [UniProt]
xref: MedGen:C1832274
xref: MeSH:D002607
xref: MIM:601472 "phenotype"
[Term]
id: DI-00279
name: Charcot-Marie-Tooth disease, axonal, 2E
def: "A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy." []
synonym: "Charcot-Marie-Tooth disease axonal type 2E" [UniProt]
synonym: "Charcot-Marie-Tooth disease neuronal type 2E" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 2E" [UniProt]
xref: MedGen:C1843225
xref: MeSH:D002607
xref: MIM:607684 "phenotype"
[Term]
id: DI-00280
name: Charcot-Marie-Tooth disease, axonal, 2F
def: "A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Onset of Charcot-Marie-Tooth disease type 2F is between 15 and 25 years with muscle weakness and atrophy usually beginning in feet and legs (peroneal distribution). Upper limb involvement occurs later." []
synonym: "Charcot-Marie-Tooth disease axonal type 2F" [UniProt]
synonym: "Charcot-Marie-Tooth disease neuronal type 2F" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 2F" [UniProt]
xref: MedGen:C1847823
xref: MeSH:D002607
xref: MIM:606595 "phenotype"
[Term]
id: DI-00281
name: Charcot-Marie-Tooth disease, axonal, 2I
def: "A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy." []
synonym: "Charcot-Marie-Tooth disease axonal type 2I" [UniProt]
synonym: "Charcot-Marie-Tooth disease neuronal type 2I" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 2I" [UniProt]
xref: MedGen:C1843251
xref: MeSH:D002607
xref: MIM:607677 "phenotype"
[Term]
id: DI-00282
name: Charcot-Marie-Tooth disease, axonal, 2J
def: "A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Charcot-Marie-Tooth disease type 2J is characterized by the association of axonal peripheral neuropathy with hearing loss and pupillary abnormalities such as Adie pupil." []
synonym: "Charcot-Marie-Tooth disease axonal type 2J" [UniProt]
synonym: "Charcot-Marie-Tooth disease neuronal type 2J" [UniProt]
synonym: "Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 2J" [UniProt]
xref: MedGen:C1843153
xref: MeSH:D002607
xref: MIM:607736 "phenotype"
[Term]
id: DI-00283
name: Charcot-Marie-Tooth disease, axonal, 2K
def: "An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Charcot-Marie-Tooth disease type 2K onset is in early childhood (younger than 3 years). This phenotype is characterized by foot deformities, kyphoscoliosis, distal limb muscle weakness and atrophy, areflexia, and diminished sensation in the lower limbs. Weakness in the upper limbs is observed in the first decade, with clawing of the fingers. Inheritance can be autosomal dominant or recessive." []
synonym: "Charcot-Marie-Tooth disease axonal type 2K" [UniProt]
synonym: "Charcot-Marie-Tooth disease neuronal type 2K" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 2K" [UniProt]
xref: MedGen:C1842983
xref: MedGen:C1842984
xref: MeSH:D002607
xref: MIM:607831 "phenotype"
[Term]
id: DI-00284
name: Charcot-Marie-Tooth disease, axonal, 2L
def: "An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy." []
synonym: "Charcot-Marie-Tooth disease axonal autosomal dominant type 2L" [UniProt]
synonym: "Charcot-Marie-Tooth disease axonal type 2L" [UniProt]
synonym: "Charcot-Marie-Tooth disease neuronal type 2L" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 2L" [UniProt]
xref: MedGen:C1837552
xref: MeSH:D002607
xref: MIM:608673 "phenotype"
[Term]
id: DI-00285
name: Charcot-Marie-Tooth disease 4A
def: "A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4A is a severe form characterized by early age of onset and rapid progression leading to inability to walk in late childhood or adolescence." []
synonym: "Charcot-Marie-Tooth disease demyelinating autosomal recessive, type 4A" [UniProt]
synonym: "Charcot-Marie-Tooth disease neuropathy type 4A" [UniProt]
xref: MedGen:C1859198
xref: MeSH:D002607
xref: MIM:214400 "phenotype"
[Term]
id: DI-00286
name: Charcot-Marie-Tooth disease 4B1
def: "A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4." []
synonym: "Charcot-Marie-Tooth disease autosomal recessive with focally folded myelin sheaths 4B1" [UniProt]
synonym: "Charcot-Marie-Tooth disease demyelinating autosomal recessive 4B1" [UniProt]
synonym: "Charcot-Marie-Tooth disease type 4B" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 4B1" [UniProt]
synonym: "CMT4B" [UniProt]
xref: MedGen:C1832399
xref: MeSH:D002607
xref: MIM:601382 "phenotype"
[Term]
id: DI-00287
name: Charcot-Marie-Tooth disease 4B2
def: "A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4." []
synonym: "Charcot-Marie-Tooth disease autosomal recessive with focally folded myelin sheaths 4B2" [UniProt]
synonym: "Charcot-Marie-Tooth disease demyelinating autosomal recessive 4B2" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 4B2" [UniProt]
xref: MedGen:C1858278
xref: MedGen:C1858279
xref: MedGen:C1858280
xref: MeSH:D002607
xref: MIM:604563 "phenotype"
[Term]
id: DI-00288
name: Charcot-Marie-Tooth disease 4C
def: "A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4C is characterized by onset in childhood, early-onset scoliosis and a distinct Schwann cell pathology." []
synonym: "Charcot-Marie-Tooth disease demyelinating autosomal recessive 4C" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 4C" [UniProt]
xref: MedGen:C1866636
xref: MeSH:D002607
xref: MIM:601596 "phenotype"
[Term]
id: DI-00289
name: Charcot-Marie-Tooth disease 4D
def: "A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4." []
synonym: "Charcot-Marie-Tooth disease demyelinating autosomal recessive 4D" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 4D" [UniProt]
synonym: "Hereditary motor and sensory neuropathy IVD" [UniProt]
synonym: "Hereditary motor and sensory neuropathy Lom type" [UniProt]
synonym: "HMSN IVD" [UniProt]
synonym: "HMSN4D" [UniProt]
synonym: "HMSNL" [UniProt]
xref: MedGen:C1832334
xref: MeSH:D002607
xref: MeSH:D015417
xref: MIM:601455 "phenotype"
[Term]
id: DI-00290
name: Charcot-Marie-Tooth disease 4H
def: "A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4." []
synonym: "Charcot-Marie-Tooth disease demyelinating autosomal recessive 4H" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 4H" [UniProt]
xref: MedGen:C1836336
xref: MeSH:D002607
xref: MIM:609311 "phenotype"
[Term]
id: DI-00291
name: Charcot-Marie-Tooth disease 4J
def: "A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4." []
xref: MedGen:C1970011
xref: MeSH:D002607
xref: MIM:611228 "phenotype"
[Term]
id: DI-00292
name: Neuropathy, hereditary motor and sensory, 6A, with optic atrophy
def: "An autosomal dominant neurologic disorder characterized by optic atrophy and peripheral sensorimotor neuropathy manifesting as axonal Charcot-Marie-Tooth disease. Charcot-Marie-Tooth disease is a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. It is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies and primary peripheral axonal neuropathies. Peripheral axonal neuropathies are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, and normal or slightly reduced nerve conduction velocities." []
synonym: "Charcot-Marie-Tooth disease 6" [UniProt]
synonym: "Charcot-Marie-Tooth disease 6A" [UniProt]
synonym: "CMT6" [UniProt]
synonym: "CMT6A" [UniProt]
synonym: "Hereditary motor and sensory neuropathy type VI" [UniProt]
synonym: "Hereditary motor and sensory neuropathy type VIA" [UniProt]
synonym: "HMSN VI" [UniProt]
synonym: "HMSN VIA" [UniProt]
synonym: "HMSN6" [UniProt]
synonym: "Peripheral neuropathy and optic atrophy" [UniProt]
xref: MedGen:C0393807
xref: MeSH:D002607
xref: MeSH:D015418
xref: MIM:601152 "phenotype"
[Term]
id: DI-00293
name: Charcot-Marie-Tooth disease, X-linked dominant, 1
def: "A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. CMTX1 has both demyelinating and axonal features. Central nervous system involvement may occur." []
synonym: "Charcot-Marie-Tooth neuropathy X-linked 1" [UniProt]
synonym: "Charcot-Marie-Tooth peroneal muscular atrophy X-linked" [UniProt]
synonym: "CMTX" [UniProt]
synonym: "Hereditary motor and sensory neuropathy X-linked" [UniProt]
synonym: "HMSN X-linked" [UniProt]
xref: MedGen:C0393808
xref: MeSH:D002607
xref: MeSH:D015417
xref: MIM:302800 "phenotype"
[Term]
id: DI-00294
name: Char syndrome
def: "An autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies." []
xref: MedGen:C1868570
xref: MeSH:D004374
xref: MIM:169100 "phenotype"
[Term]
id: DI-00295
name: Chediak-Higashi syndrome
def: "A rare autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency, a bleeding tendency, neurologic abnormalities, abnormal intracellular transport to and from the lysosome, and giant inclusion bodies in a variety of cell types. Most patients die at an early age unless they receive an allogeneic hematopoietic stem cell transplant (SCT)." []
xref: MedGen:C0007965
xref: MedGen:CN068761
xref: MedGen:CN068762
xref: MeSH:D002609
xref: MIM:214500 "phenotype"
[Term]
id: DI-00296
name: Cherubism
def: "An autosomal dominant syndrome characterized by excessive bone degradation of the upper and lower jaws, which often begins around three years of age. It is followed by development of fibrous tissue masses, which causes a characteristic facial swelling." []
xref: MedGen:C0008029
xref: MeSH:D002636
xref: MIM:118400 "phenotype"
[Term]
id: DI-00297
name: Epilepsy, childhood absence 2
def: "A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic- clonic seizures often develop in adolescence. Some individuals manifest febrile seizures. Absence seizures may either remit or persist into adulthood." []
xref: MedGen:C1843244
xref: MeSH:D004832
xref: MIM:607681 "phenotype"
[Term]
id: DI-00299
name: Epilepsy, childhood absence 4
def: "A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic- clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood." []
xref: MedGen:C1970160
xref: MeSH:D004832
xref: MIM:611136 "phenotype"
[Term]
id: DI-00300
name: Epilepsy, childhood absence 5
def: "A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic- clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood." []
xref: MedGen:C2677087
xref: MeSH:D004832
xref: MIM:612269 "phenotype"
[Term]
id: DI-00301
name: Cholesteryl ester storage disease
def: "An autosomal recessive, mild form of lysosomal acid lipase deficiency characterized by accumulation of cholesteryl esters and triglycerides primarily in the liver. The clinical presentation is highly variable depending on residual levels of lysosomal acid lipase activity, and ranges from early onset of severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood. Age at onset varies from childhood to adulthood." []
synonym: "Cholesterol ester hydrolase deficiency, partial" [UniProt]
synonym: "Cholesterol ester storage disease" [UniProt]
synonym: "LAL deficiency, partial" [UniProt]
synonym: "LIPA deficiency, partial" [UniProt]
synonym: "Lysosomal acid lipase deficiency, partial" [UniProt]
xref: MedGen:C0043208
xref: MedGen:CN205686
xref: MeSH:D015217
xref: MeSH:D015223
xref: MIM:278000 "phenotype"
[Term]
id: DI-00302
name: Chondrodysplasia punctata 1, X-linked recessive
def: "A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. CDPX1 is a congenital defect of bone and cartilage development characterized by aberrant bone mineralization, severe underdevelopment of nasal cartilage, and distal phalangeal hypoplasia. This disease can also be induced by inhibition with the drug warfarin." []
synonym: "Chondrodysplasia punctata brachytelephalangic" [UniProt]
xref: MedGen:C1844853
xref: MeSH:D002806
xref: MIM:302950 "phenotype"
[Term]
id: DI-00303
name: Chondrodysplasia punctata 2, X-linked dominant
def: "A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. The key clinical features of CDPX2 are chondrodysplasia punctata, linear ichthyosis, cataracts and short stature. CDPX2 is a rare disorder of defective cholesterol biosynthesis, biochemically characterized by an increased amount of 8- dehydrocholesterol and cholest-8(9)-en-3-beta-ol in the plasma and tissues." []
synonym: "CHH" [UniProt]
synonym: "Conradi-Hunermann syndrome" [UniProt]
synonym: "Conradi-Hunermann-Happle syndrome" [UniProt]
synonym: "Happle syndrome" [UniProt]
xref: MedGen:C0282102
xref: MedGen:C2931843
xref: MeSH:D002806
xref: MIM:302960 "phenotype"
[Term]
id: DI-00304
name: Granulomatous disease, chronic, autosomal recessive, 4
def: "A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens." []
synonym: "CGD due to deficiency of alpha subunit of cytochrome b" [UniProt]
synonym: "Chronic granulomatous disease autosomal recessive cytochrome b-negative" [UniProt]
synonym: "CYBA deficiency" [UniProt]
synonym: "Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive" [UniProt]
xref: MedGen:C1856255
xref: MeSH:D006105
xref: MIM:233690 "phenotype"
[Term]
id: DI-00305
name: Granulomatous disease, chronic, autosomal recessive, 1
def: "A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens." []
synonym: "Chronic granulomatous disease autosomal recessive cytochrome b-positive type I" [UniProt]
synonym: "Chronic granulomatous disease due to NCF1 deficiency" [UniProt]
synonym: "Deficiency of neutrophil cytosol factor 1" [UniProt]
synonym: "NCF1 deficiency" [UniProt]
synonym: "p47-PHOX deficiency" [UniProt]
synonym: "SOC2 deficiency" [UniProt]
synonym: "Soluble oxidase component II deficiency" [UniProt]
xref: MedGen:C1856251
xref: MeSH:D006105
xref: MIM:233700 "phenotype"
[Term]
id: DI-00306
name: Granulomatous disease, chronic, autosomal recessive, 2
def: "A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens." []
synonym: "Chronic granulomatous disease autosomal recessive cytochrome b-positive type II" [UniProt]
synonym: "Deficiency of neutrophil cytosol factor 2" [UniProt]
synonym: "NCF2 deficiency" [UniProt]
synonym: "p67-PHOX deficiency" [UniProt]
xref: MedGen:C1856245
xref: MeSH:D006105
xref: MIM:233710 "phenotype"
[Term]
id: DI-00307
name: Granulomatous disease, chronic, X-linked
def: "A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens." []
synonym: "Chronic granulomatous disease cytochrome b-negative X-linked" [UniProt]
synonym: "Chronic granulomatous disease cytochrome b-positive X-linked" [UniProt]
xref: MedGen:C1844376
xref: MedGen:C1844378
xref: MedGen:C1844379
xref: MeSH:D006105
xref: MIM:306400 "phenotype"
[Term]
id: DI-00308
name: Chylomicron retention disease
def: "An autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. The condition is characterized by deficiency of fat-soluble vitamins, low blood cholesterol levels, and a selective absence of chylomicrons from blood. Affected individuals accumulate chylomicron-like particles in membrane-bound compartments of enterocytes, which contain large cytosolic lipid droplets." []
synonym: "ANDD" [UniProt]
synonym: "Anderson disease" [UniProt]
synonym: "Hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells" [UniProt]
synonym: "Lipid transport defect of intestine" [UniProt]
xref: MedGen:C0795956
xref: MeSH:D006995
xref: MeSH:D008286
xref: MIM:246700 "phenotype"
[Term]
id: DI-00309
name: Citrullinemia 1
def: "The classic form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. It is a disorder of the urea cycle, usually manifesting in the first few days of life. Affected infants appear normal at birth, but as ammonia builds up in the body they present symptoms such as lethargy, poor feeding, vomiting, seizures and loss of consciousness. Less commonly, a milder form can develop later in childhood or adulthood." []
synonym: "Argininosuccinate synthetase deficiency" [UniProt]
synonym: "ASS deficiency" [UniProt]
synonym: "Citrullinemia type I" [UniProt]
synonym: "Citrullinuria" [UniProt]
synonym: "Classic citrullinemia" [UniProt]
xref: MedGen:C0175683
xref: MeSH:D020159
xref: MIM:215700 "phenotype"
[Term]
id: DI-00310
name: Citrullinemia 2
def: "A form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. Citrullinemia type 2 is characterized by neuropsychiatric symptoms including abnormal behaviors, loss of memory, seizures and coma. Death can result from brain edema. Onset is sudden and usually between the ages of 20 and 50 years." []
synonym: "Adult-onset citrullinemia type 2" [UniProt]
synonym: "Citrin deficiency" [UniProt]
synonym: "Citrullinemia type II" [UniProt]
xref: MedGen:C1863844
xref: MeSH:D056806
xref: MIM:603471 "phenotype"
[Term]
id: DI-00311
name: Cockayne syndrome A
def: "A rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in intellectual disability. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer." []
synonym: "CKN1" [UniProt]
xref: MedGen:C0751039
xref: MeSH:D003057
xref: MIM:216400 "phenotype"
[Term]
id: DI-00312
name: Cockayne syndrome B
def: "A rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in intellectual disability. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer." []
synonym: "CKN2" [UniProt]
xref: MedGen:C0751038
xref: MeSH:D003057
xref: MIM:133540 "phenotype"
[Term]
id: DI-00313
name: Coffin-Lowry syndrome
def: "An X-linked disorder characterized by intellectual disability associated with facial and digital dysmorphisms, progressive skeletal malformations, growth retardation, hearing deficit and paroxysmal movement disorders." []
xref: MedGen:C0265252
xref: MeSH:D038921
xref: MIM:303600 "phenotype"
[Term]
id: DI-00314
name: Cohen syndrome
def: "A rare autosomal recessive disorder characterized by obesity, hypotonia, intellectual deficit, characteristic craniofacial dysmorphism and abnormalities of the hands and feet. Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair and low hairline." []
synonym: "CHS1" [UniProt]
synonym: "Hypotonia-obesity-prominent incisors" [UniProt]
synonym: "Pepper syndrome" [UniProt]
xref: MedGen:C0265223
xref: MeSH:D008607
xref: MeSH:D008831
xref: MeSH:D009123
xref: MeSH:D009765
xref: MIM:216550 "phenotype"
[Term]
id: DI-00315
name: Cone dystrophy, retinal 3A
def: "A rare form of cone dystrophy associated with supernormal rod responses. The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more obvious areas of atrophy." []
synonym: "Cone dystrophy with night blindness and supernormal rod responses" [UniProt]
synonym: "Cone dystrophy with supernormal rod electroretinogram" [UniProt]
xref: MedGen:C1864900
xref: MedGen:C3552227
xref: MeSH:D058499
xref: MIM:610024 "phenotype"
[Term]
id: DI-00316
name: Cone dystrophy retinal 3B
def: "A rare form of cone dystrophy associated with supernormal rod responses. The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more obvious areas of atrophy." []
synonym: "Cone dystrophy with night blindness and supernormal rod responses KCNV2-related" [UniProt]
synonym: "Cone dystrophy with supernormal rod electroretinogram" [UniProt]
xref: MedGen:C1835897
xref: MeSH:D058499
xref: MIM:610356 "phenotype"
[Term]
id: DI-00317
name: Cone dystrophy 3
def: "An autosomal dominant cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs." []
xref: MedGen:C1865869
xref: MeSH:D058499
xref: MIM:602093 "phenotype"
[Term]
id: DI-00318
name: Cone-rod dystrophy 2
def: "An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors." []
synonym: "Cone-rod retinal dystrophy 2" [UniProt]
synonym: "CRD2" [UniProt]
xref: MedGen:C3489532
xref: MedGen:CN074280
xref: MeSH:D058499
xref: MIM:120970 "phenotype"
[Term]
id: DI-00319
name: Cone-rod dystrophy 3
def: "An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors." []
xref: MedGen:C1858806
xref: MeSH:D058499
xref: MIM:604116 "phenotype"
[Term]
id: DI-00320
name: Cone-rod dystrophy 5
def: "An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors." []
xref: MedGen:C1832976
xref: MeSH:D058499
xref: MIM:600977 "phenotype"
[Term]
id: DI-00321
name: Cone-rod dystrophy 6
def: "An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors." []
xref: MedGen:C1866293
xref: MeSH:D058499
xref: MIM:601777 "phenotype"
[Term]
id: DI-00322
name: Cone-rod dystrophy 7
def: "An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors." []
xref: MedGen:C1863634
xref: MeSH:D000071700
xref: MIM:603649 "phenotype"
[Term]
id: DI-00323
name: Cone-rod dystrophy 13
def: "An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors." []
xref: MedGen:C2750720
xref: MeSH:D000071700
xref: MIM:608194 "phenotype"
[Term]
id: DI-00324
name: Cone-rod dystrophy 10
def: "An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors." []
xref: MedGen:C1846529
xref: MeSH:D000071700
xref: MIM:610283 "phenotype"
[Term]
id: DI-00325
name: Cone-rod dystrophy 11
def: "An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors." []
xref: MedGen:C1835865
xref: MeSH:D000071700
xref: MIM:610381 "phenotype"
[Term]
id: DI-00326
name: Cone-rod dystrophy 12
def: "An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors." []
xref: MedGen:C2675210
xref: MeSH:D000071700
xref: MIM:612657 "phenotype"
[Term]
id: DI-00327
name: Cone-rod dystrophy, X-linked 1
def: "An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. In cone-rod dystrophy X-linked type 1 the degree of rod-photoreceptor involvement can be variable, with degeneration increasing as the disease progresses. Affected individuals (essentially all of whom are males) present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment epithelium. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at onset and severity of symptoms." []
synonym: "COD1" [UniProt]
synonym: "Cone dystrophy X-linked 1" [UniProt]
xref: MedGen:C1844776
xref: MedGen:C1844777
xref: MeSH:D058499
xref: MIM:304020 "phenotype"
[Term]
id: DI-00328
name: Cone-rod dystrophy, X-linked 3
def: "An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors." []
xref: MedGen:C1845407
xref: MeSH:D058499
xref: MIM:300476 "phenotype"
[Term]
id: DI-00329
name: Congenital bile acid synthesis defect 1
def: "A primary defect in bile synthesis leading to progressive liver disease. Clinical features include neonatal jaundice, severe intrahepatic cholestasis, cirrhosis." []
synonym: "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency" [UniProt]
synonym: "Neonatal progressive intrahepatic cholestasis" [UniProt]
synonym: "PFIC4" [UniProt]
synonym: "Progressive familial intrahepatic cholestasis type 4" [UniProt]
xref: MedGen:C1843116
xref: MeSH:D002780
xref: MIM:607765 "phenotype"
[Term]
id: DI-00330
name: Congenital bile acid synthesis defect 2
def: "A condition characterized by jaundice, intrahepatic cholestasis and hepatic failure. Patients with this liver disease show absence or low levels of chenodeoxycholic acid and cholic acid in plasma and urine." []
synonym: "Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency" [UniProt]
xref: MedGen:C1856127
xref: MeSH:D002780
xref: MIM:235555 "phenotype"
[Term]
id: DI-00331
name: Congenital bile acid synthesis defect 3
def: "A disorder resulting in severe cholestasis, cirrhosis and liver synthetic failure. Hepatic microsomal oxysterol 7-alpha-hydroxylase activity is undetectable." []
xref: MedGen:C3151147
xref: MeSH:D002780
xref: MIM:613812 "phenotype"
[Term]
id: DI-00332
name: Congenital bile acid synthesis defect 4
def: "A disorder characterized by the presence of trihydroxycoprostanic acid in the bile and absence of cholic acid. Patients manifest neonatal jaundice, intrahepatic cholestasis and bile duct deficiency." []
synonym: "Intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid" [UniProt]
synonym: "Trihydroxycoprostanic acid in bile" [UniProt]
xref: MedGen:C1858328
xref: MeSH:D002780
xref: MIM:214950 "phenotype"
[Term]
id: DI-00333
name: Congenital disorder of glycosylation 1A
def: "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1A is an autosomal recessive disorder characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism." []
synonym: "Carbohydrate-deficient glycoprotein syndrome type Ia" [UniProt]
synonym: "CDG Ia" [UniProt]
synonym: "CDG-Ia" [UniProt]
synonym: "CDGIa" [UniProt]
synonym: "CDGS1A" [UniProt]
synonym: "Congenital disorder of glycosylation type Ia" [UniProt]
synonym: "Jaeken syndrome" [UniProt]
synonym: "Jaeken's syndrome" [UniProt]
synonym: "Phosphomannomutase 2 deficiency" [UniProt]
synonym: "PMM2 deficiency" [UniProt]
xref: MedGen:C0349653
xref: MeSH:D018981
xref: MIM:212065 "phenotype"
[Term]
id: DI-00334
name: Congenital disorder of glycosylation 1B
def: "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1B is clinically characterized by protein-losing enteropathy." []
synonym: "Carbohydrate-deficient glycoprotein syndrome type Ib" [UniProt]
synonym: "CDG gastrointestinal type" [UniProt]
synonym: "CDG Ib" [UniProt]
synonym: "CDG-Ib" [UniProt]
synonym: "CDGIb" [UniProt]
synonym: "CDGS1B" [UniProt]
synonym: "Congenital disorder of glycosylation type Ib" [UniProt]
synonym: "Mannosephosphate isomerase deficiency" [UniProt]
synonym: "MPI deficiency" [UniProt]
synonym: "Protein-losing enteropathy-hepatic fibrosis syndrome" [UniProt]
synonym: "Saguenay-Lac Saint-Jean syndrome" [UniProt]
synonym: "SLSJ syndrome" [UniProt]
xref: MedGen:C1865145
xref: MeSH:D018981
xref: MIM:602579 "phenotype"
[Term]
id: DI-00335
name: Congenital disorder of glycosylation 1C
def: "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions." []
synonym: "Carbohydrate-deficient glycoprotein syndrome type V" [UniProt]
synonym: "CDGS5" [UniProt]
xref: MedGen:C1864178
xref: MedGen:C2930997
xref: MeSH:D018981
xref: MIM:603147 "phenotype"
[Term]
id: DI-00336
name: Congenital disorder of glycosylation 1D
def: "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions." []
synonym: "Carbohydrate-deficient glycoprotein syndrome type IV" [UniProt]
synonym: "CDGS4" [UniProt]
xref: MedGen:C1832736
xref: MeSH:D018981
xref: MIM:601110 "phenotype"
[Term]
id: DI-00337
name: Congenital disorder of glycosylation 1E
def: "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Some CDG1E patients have features consistent with a dystroglycanopathy and congenital muscular dystrophy, including O-mannosylation defect, camptodactyly, elevated creatine kinase, motor delay and dystrophic changes on muscel biopsy." []
xref: MedGen:C1837396
xref: MeSH:D018981
xref: MIM:608799 "phenotype"
[Term]
id: DI-00338
name: Congenital disorder of glycosylation 1F
def: "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions." []
synonym: "CDG If" [UniProt]
synonym: "CDG-If" [UniProt]
synonym: "CDGIf" [UniProt]
synonym: "Congenital disorder of glycosylation type If" [UniProt]
xref: MedGen:C1836669
xref: MeSH:D018981
xref: MIM:609180 "phenotype"
[Term]
id: DI-00339
name: Congenital disorder of glycosylation 1G
def: "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions." []
synonym: "CDG Ig" [UniProt]
synonym: "CDG-Ig" [UniProt]
synonym: "CDGIg" [UniProt]
synonym: "Congenital disorder of glycosylation type Ig" [UniProt]
xref: MedGen:C1846695
xref: MedGen:C2931001
xref: MeSH:D018981
xref: MIM:607143 "phenotype"
[Term]
id: DI-00340
name: Congenital disorder of glycosylation 1H
def: "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions." []
synonym: "CDG Ih" [UniProt]
synonym: "CDG-Ih" [UniProt]
synonym: "CDGIh" [UniProt]
synonym: "Congenital disorder of glycosylation type Ih" [UniProt]
xref: MedGen:C1842539
xref: MedGen:C2931002
xref: MeSH:D018981
xref: MIM:608104 "phenotype"
[Term]
id: DI-00341
name: Congenital disorder of glycosylation 1I
def: "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions." []
synonym: "CDG Ii" [UniProt]
synonym: "CDG-Ii" [UniProt]
synonym: "CDGIi" [UniProt]
synonym: "Congenital disorder of glycosylation type Ii" [UniProt]
xref: MedGen:C1842836
xref: MeSH:D018981
xref: MIM:607906 "phenotype"
[Term]
id: DI-00342
name: Congenital disorder of glycosylation 1J
def: "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions." []
synonym: "CDG Ij" [UniProt]
synonym: "CDG-Ij" [UniProt]
synonym: "CDGIj" [UniProt]
synonym: "Congenital disorder of glycosylation type Ij" [UniProt]
xref: MedGen:C1842572
xref: MedGen:C2931004
xref: MeSH:D018981
xref: MIM:608093 "phenotype"
[Term]
id: DI-00343
name: Congenital disorder of glycosylation 1K
def: "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions." []
synonym: "CDG Ik" [UniProt]
synonym: "CDG-Ik" [UniProt]
synonym: "CDGIk" [UniProt]
synonym: "Congenital disorder of glycosylation type Ik" [UniProt]
xref: MedGen:C1837896
xref: MedGen:C2931005
xref: MeSH:D018981
xref: MIM:608540 "phenotype"
[Term]
id: DI-00344
name: Congenital disorder of glycosylation 1L
def: "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions." []
synonym: "CDG Il" [UniProt]
synonym: "CDG-Il" [UniProt]
synonym: "CDGIl" [UniProt]
synonym: "Congenital disorder of glycosylation type Il" [UniProt]
xref: MedGen:C1837438
xref: MedGen:C2931006
xref: MeSH:D018981
xref: MIM:608776 "phenotype"
[Term]
id: DI-00345
name: Congenital disorder of glycosylation 1M
def: "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1M is a very severe disease with death occurring in early life." []
synonym: "CDG Im" [UniProt]
synonym: "CDG-Im" [UniProt]
synonym: "CDGIm" [UniProt]
synonym: "Congenital disorder of glycosylation type Im" [UniProt]
synonym: "DK1 deficiency" [UniProt]
synonym: "Dolichol kinase deficiency" [UniProt]
xref: MedGen:C1835849
xref: MeSH:D018981
xref: MIM:610768 "phenotype"
[Term]
id: DI-00346
name: Congenital disorder of glycosylation 1N
def: "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions." []
synonym: "CDG In" [UniProt]
synonym: "CDG-In" [UniProt]
synonym: "CDGIn" [UniProt]
synonym: "Congenital disorder of glycosylation type In" [UniProt]
xref: MedGen:C2677590
xref: MeSH:D018981
xref: MIM:612015 "phenotype"
[Term]
id: DI-00347
name: Congenital disorder of glycosylation 2A
def: "A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions." []
synonym: "Carbohydrate-deficient glycoprotein syndrome type II" [UniProt]
synonym: "CDG IIa" [UniProt]
synonym: "CDG-IIa" [UniProt]
synonym: "CDGIIa" [UniProt]
synonym: "CDGS type II" [UniProt]
synonym: "Congenital disorder of glycosylation type IIa" [UniProt]
xref: MedGen:C0349654
xref: MedGen:C2931008
xref: MeSH:D018981
xref: MIM:212066 "phenotype"
[Term]
id: DI-00348
name: Congenital disorder of glycosylation 2C
def: "A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The clinical features of CDG2C include intellectual disability, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes. Biochemically, CDG2C is characterized by a lack of fucosylated glycoconjugates, including selectin ligands." []
synonym: "CDG IIc" [UniProt]
synonym: "CDG-IIc" [UniProt]
synonym: "CDGIIc" [UniProt]
synonym: "Congenital disorder of glycosylation type IIc" [UniProt]
synonym: "LAD2" [UniProt]
synonym: "Leukocyte adhesion deficiency type II" [UniProt]
xref: MedGen:C0398739
xref: MedGen:C0796132
xref: MeSH:D018981
xref: MIM:266265 "phenotype"
[Term]
id: DI-00349
name: Congenital disorder of glycosylation 2D
def: "A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions." []
synonym: "CDG IId" [UniProt]
synonym: "CDG-IId" [UniProt]
synonym: "CDGIId" [UniProt]
synonym: "Congenital disorder of glycosylation type IId" [UniProt]
xref: MedGen:C1846816
xref: MeSH:D018981
xref: MIM:607091 "phenotype"
[Term]
id: DI-00350
name: Congenital disorder of glycosylation 2E
def: "A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions." []
synonym: "CDG IIe" [UniProt]
synonym: "CDG-IIe" [UniProt]
synonym: "CDGIIe" [UniProt]
synonym: "Congenital disorder of glycosylation type IIe" [UniProt]
xref: MedGen:C1837437
xref: MedGen:C2931010
xref: MeSH:D018981
xref: MIM:608779 "phenotype"
[Term]
id: DI-00351
name: Congenital disorder of glycosylation 2G
def: "A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Clinical features of CDG2G include failure to thrive, generalized hypotonia, growth retardation and mild psychomotor retardation. CDG2G is biochemically characterized by a defect in O-glycosylation as well as N-glycosylation." []
synonym: "CDG IIg" [UniProt]
synonym: "CDG-II caused by Cog1 deficiency" [UniProt]
synonym: "CDG-IIg" [UniProt]
synonym: "CDGIIg" [UniProt]
synonym: "Congenital disorder of glycosylation type IIg" [UniProt]
xref: MedGen:C1970016
xref: MedGen:C2931011
xref: MeSH:D018981
xref: MIM:611209 "phenotype"
[Term]
id: DI-00352
name: Fibrosis of extraocular muscles, congenital, 1
def: "A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Patients affected by congenital fibrosis of extraocular muscles type 1 show an absence of the superior division of the oculomotor nerve (cranial nerve III) and corresponding oculomotor subnuclei." []
synonym: "Blepharoptosis with absent eye movements" [UniProt]
synonym: "Congenital ophthalmoplegia" [UniProt]
synonym: "FEOM1" [UniProt]
xref: MedGen:C1851102
xref: MedGen:C2751105
xref: MeSH:D005355
xref: MeSH:D009886
xref: MIM:135700 "phenotype"
[Term]
id: DI-00353
name: Fibrosis of extraocular muscles, congenital, 2
def: "A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Congenital fibrosis of extraocular muscles type 2 may result from the defective development of the oculomotor (nIII), trochlear (nIV) and abducens (nVI) cranial nerve nuclei." []
synonym: "Congenital fibrosis of extraocular muscles autosomal recessive" [UniProt]
synonym: "Exotropic strabismus fixus" [UniProt]
synonym: "FEOM2" [UniProt]
xref: MedGen:C1865915
xref: MeSH:D005355
xref: MeSH:D009886
xref: MIM:602078 "phenotype"
[Term]
id: DI-00354
name: Lipodystrophy, congenital generalized, 1
def: "A form of congenital generalized lipodystrophy, a metabolic disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. Inheritance is autosomal recessive." []
synonym: "Berardinelli-Seip congenital lipodystrophy type 1" [UniProt]
synonym: "Berardinelli-Seip syndrome" [UniProt]
synonym: "Brunzell syndrome AGPAT2-related" [UniProt]
synonym: "BSCL1" [UniProt]
synonym: "Lipoatrophic diabetes" [UniProt]
synonym: "Lipodystrophy Berardinelli type" [UniProt]
synonym: "Total lipodystrophy and acromegaloid gigantism" [UniProt]
xref: MedGen:C1720862
xref: MeSH:D052497
xref: MIM:608594 "phenotype"
[Term]
id: DI-00355
name: Lipodystrophy, congenital generalized, 2
def: "A form of congenital generalized lipodystrophy, a metabolic disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. Inheritance is autosomal recessive." []
synonym: "Berardinelli-Seip congenital lipodystrophy type 2" [UniProt]
synonym: "Berardinelli-Seip syndrome" [UniProt]
synonym: "Brunzell syndrome BSCL2-related" [UniProt]
synonym: "Lipoatrophic diabetes" [UniProt]
synonym: "Lipodystrophy Berardinelli type" [UniProt]
synonym: "Total lipodystrophy and acromegaloid gigantism" [UniProt]
xref: MedGen:C1720863
xref: MeSH:D052497
xref: MIM:269700 "phenotype"
[Term]
id: DI-00356
name: Lipodystrophy, congenital generalized, 3
def: "A form of congenital generalized lipodystrophy, a metabolic disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and diabetes mellitus. CGL3 inheritance is autosomal recessive." []
synonym: "Berardinelli-Seip congenital lipodystrophy type 3" [UniProt]
synonym: "BSCL3" [UniProt]
xref: MedGen:C2675861
xref: MeSH:D052497
xref: MIM:612526 "phenotype"
[Term]
id: DI-00357
name: Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
def: "An X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis." []
xref: MedGen:C0265267
xref: MeSH:D008052
xref: MeSH:D016113
xref: MeSH:D017880
xref: MIM:308050 "phenotype"
[Term]
id: DI-00358
name: Neuropathy, congenital hypomyelinating, 1, autosomal recessive
def: "A severe degenerating neuropathy that results from a congenital impairment in myelin formation. It is clinically characterized by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (as low as 3m/s). Some patients manifest nearly complete absence of spontaneous limb movements, respiratory distress at birth, and complete absence of myelin shown by electron microscopy of peripheral nerves." []
synonym: "Charcot-Marie-Tooth disease type 4E" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 4E" [UniProt]
synonym: "CMT4E" [UniProt]
synonym: "Congenital amyelinating neuropathy" [UniProt]
synonym: "Congenital hypomyelinating neuropathy autosomal recessive" [UniProt]
synonym: "Neuropathy, congenital hypomyelinating or amyelinating" [UniProt]
synonym: "Severe congenital hypomyelination" [UniProt]
xref: MedGen:C0393818
xref: MedGen:C3551756
xref: MeSH:D002607
xref: MIM:605253 "phenotype"
[Term]
id: DI-00359
name: Thyroid dyshormonogenesis 1
def: "A disorder characterized by the inability of the thyroid to maintain a concentration difference of readily exchangeable iodine between the plasma and the thyroid gland, leading to congenital hypothyroidism." []
synonym: "CHDH1" [UniProt]
synonym: "Congenital hypothyroidism due to dyshormonogenesis type 1" [UniProt]
synonym: "Genetic defect in thyroid hormonogenesis 1" [UniProt]
synonym: "Iodine accumulation, transport or trapping defect" [UniProt]
xref: MedGen:C1848805
xref: MeSH:D003409
xref: MIM:274400 "phenotype"
[Term]
id: DI-00360
name: Thyroid dyshormonogenesis 2A
def: "A disorder due to defective conversion of accumulated iodide to organically bound iodine. The iodide organification defect can be partial or complete." []
synonym: "CHDH2A" [UniProt]
synonym: "Congenital hypothyroidism due to dyshormonogenesis type 2A" [UniProt]
synonym: "Genetic defect in thyroid hormonogenesis 2A" [UniProt]
synonym: "Iodide peroxidase deficiency" [UniProt]
synonym: "Thyroid hormone organification defect 2" [UniProt]
synonym: "TIOD" [UniProt]
xref: MedGen:C1291299
xref: MeSH:D003409
xref: MIM:274500 "phenotype"
[Term]
id: DI-00361
name: Thyroid dyshormonogenesis 6
def: "A disorder due to a defective conversion of accumulated iodide to organically bound iodine. The iodide organification defect can be partial or complete." []
synonym: "CHDH6" [UniProt]
synonym: "Congenital hypothyroidism due to dyshormonogenesis type 6" [UniProt]
synonym: "Genetic defect in thyroid hormonogenesis 6" [UniProt]
xref: MedGen:C1846632
xref: MeSH:D003409
xref: MIM:607200 "phenotype"
[Term]
id: DI-00362
name: Hypothyroidism, congenital, non-goitrous, 1
def: "A non-autoimmune condition characterized by resistance to thyroid- stimulating hormone (TSH) leading to increased levels of plasma TSH and low levels of thyroid hormone. It presents variable severity depending on the completeness of the defect. Most patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism and present a hypoplastic thyroid gland." []
synonym: "Congenital hypothyroidism due to TSH resistance" [UniProt]
synonym: "Hypothyroidism due to unresponsiveness to thyrotropin" [UniProt]
synonym: "Non-autoimmune hypothyroidism" [UniProt]
synonym: "RTSH" [UniProt]
synonym: "Thyroid-stimulating hormone resistance" [UniProt]
synonym: "Thyrotropin resistance" [UniProt]
synonym: "TSH resistance" [UniProt]
xref: MedGen:C2940786
xref: MedGen:C3493776
xref: MedGen:CN074268
xref: MeSH:D003409
xref: MIM:275200 "phenotype"
[Term]
id: DI-00363
name: Hypothyroidism, congenital, non-goitrous, 2
def: "A disease characterized by thyroid dysgenesis, the most frequent cause of congenital hypothyroidism, accounting for 85% of case. The thyroid gland can be completely absent (athyreosis), ectopically located and/or severely hypoplastic. Ectopic thyroid gland is the most frequent malformation, with thyroid tissue being found most often at the base of the tongue." []
synonym: "Athyreotic hypothyroidism" [UniProt]
synonym: "Congenital hypothyroidism due to thyroid dysgenesis" [UniProt]
synonym: "RTSH" [UniProt]
synonym: "Thyroid dysgenesis" [UniProt]
synonym: "Thyroid-stimulating hormone resistance" [UniProt]
synonym: "Thyrotropin resistance" [UniProt]
xref: MedGen:C0151516
xref: MedGen:C0749420
xref: MedGen:C1563716
xref: MedGen:C1869118
xref: MeSH:D050033
xref: MIM:218700 "phenotype"
[Term]
id: DI-00364
name: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4
def: "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease." []
synonym: "Cerebromuscular dystrophy Fukuyama type" [UniProt]
synonym: "Congenital muscular dystrophy Fukuyama type" [UniProt]
synonym: "FCMD" [UniProt]
synonym: "Micropolygyria with muscular dystrophy" [UniProt]
synonym: "Muscle-eye-brain disease FKTN-related" [UniProt]
synonym: "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4" [UniProt]
synonym: "Walker-Warburg syndrome FKTN-related" [UniProt]
xref: MedGen:C0410174
xref: MeSH:D058494
xref: MIM:253800 "phenotype"
[Term]
id: DI-00365
name: Myasthenic syndrome, congenital, 16
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS16 is characterized by fatigable generalized weakness and recurrent attacks of respiratory and bulbar paralysis since birth. The fatigable weakness involves lid-elevator, external ocular, facial, limb and truncal muscles and an decremental response of the compound muscle action potential on repetitive stimulation." []
synonym: "Congenital myasthenic syndrome due to mutation in SCN4A" [UniProt]
synonym: "Congenital myasthenic syndrome SCN4A-related" [UniProt]
synonym: "Myasthenic syndrome, congenital, acetazolamide-responsive" [UniProt]
xref: MedGen:C3280112
xref: MeSH:D020294
xref: MIM:614198 "phenotype"
[Term]
id: DI-00366
name: Myasthenic syndrome, congenital, 5
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS5 inheritance is autosomal recessive." []
synonym: "CMS Ic" [UniProt]
synonym: "CMS1C" [UniProt]
synonym: "CMSE" [UniProt]
synonym: "Congenital myasthenic syndrome type 1c" [UniProt]
synonym: "Congenital myasthenic syndrome type Ic" [UniProt]
synonym: "EAD" [UniProt]
synonym: "End-plate acetylcholinesterase deficiency" [UniProt]
synonym: "Endplate acetylcholinesterase deficiency" [UniProt]
synonym: "Engel congenital myasthenic syndrome" [UniProt]
synonym: "Myasthenic syndrome, congenital, Engel type" [UniProt]
xref: MedGen:C1864233
xref: MeSH:D020294
xref: MIM:603034 "phenotype"
[Term]
id: DI-00367
name: Myasthenic syndrome, congenital, 1B, fast-channel
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS1B is a fast-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in brief opening and activity of the channel, with a rapid decay in endplate current, failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential." []
synonym: "FCCMS" [UniProt]
synonym: "Myasthenic syndrome, congenital, fast-channel" [UniProt]
xref: MedGen:C1837122
xref: MeSH:D020294
xref: MIM:608930 "phenotype"
[Term]
id: DI-00368
name: Myasthenic syndrome, congenital, 1A, slow-channel
def: "A common congenital myasthenic syndrome. Congenital myasthenic syndromes are characterized by muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS1A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane." []
synonym: "CMS IIa" [UniProt]
synonym: "CMS2A" [UniProt]
synonym: "Congenital myasthenic syndrome post-synaptic slow-channel" [UniProt]
synonym: "Congenital myasthenic syndrome type IIa" [UniProt]
synonym: "Myasthenic syndrome, congenital, slow-channel" [UniProt]
synonym: "SCCMS" [UniProt]
xref: MedGen:C0751885
xref: MedGen:C2931107
xref: MeSH:D020294
xref: MIM:601462 "phenotype"
[Term]
id: DI-00369
name: Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS4C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current." []
synonym: "CMS Id" [UniProt]
synonym: "CMS Ie" [UniProt]
synonym: "CMS-ACHRD" [UniProt]
synonym: "CMS1D" [UniProt]
synonym: "CMS1E" [UniProt]
synonym: "Congenital myasthenic syndrome post-synaptic associated with acetylcholine receptor deficiency" [UniProt]
synonym: "Congenital myasthenic syndrome type 1d" [UniProt]
synonym: "Congenital myasthenic syndrome type 1e" [UniProt]
synonym: "Congenital myasthenic syndrome type Id" [UniProt]
synonym: "Congenital myasthenic syndrome type Ie" [UniProt]
synonym: "Congenital myasthenic syndrome with facial dysmorphism associated with acetylcholine receptor deficiency" [UniProt]
synonym: "FIM1" [UniProt]
synonym: "Myasthenia, familial infantile, 1" [UniProt]
synonym: "Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency" [UniProt]
xref: MedGen:C1837091
xref: MedGen:C1837092
xref: MeSH:D020294
xref: MIM:608931 "phenotype"
[Term]
id: DI-00370
name: Myasthenic syndrome, congenital, 6, presynaptic
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS6 affected individuals have myasthenic symptoms since birth or early infancy, negative tests for anti-AChR antibodies, and abrupt episodic crises with increased weakness, bulbar paralysis, and apnea precipitated by undue exertion, fever, or excitement. CMS6 inheritance is autosomal recessive." []
synonym: "CMS Ia" [UniProt]
synonym: "CMS-EA" [UniProt]
synonym: "CMS1A" [UniProt]
synonym: "CMSEA" [UniProt]
synonym: "Congenital myasthenic syndrome pre-synaptic associated with episodic apnea" [UniProt]
synonym: "Congenital myasthenic syndrome type 1a" [UniProt]
synonym: "Congenital myasthenic syndrome type Ia" [UniProt]
synonym: "Familial infantile myasthenia gravis 2" [UniProt]
synonym: "FIMG2" [UniProt]
synonym: "Myasthenic syndrome, congenital, associated with episodic apnea" [UniProt]
xref: MedGen:C0393929
xref: MeSH:D020294
xref: MIM:254210 "phenotype"
[Term]
id: DI-00371
name: Night blindness, congenital stationary, autosomal dominant 1
def: "A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia." []
synonym: "Rhodopsin-related congenital stationary night blindness" [UniProt]
xref: MedGen:C1864869
xref: MeSH:D009755
xref: MIM:610445 "phenotype"
[Term]
id: DI-00372
name: Night blindness, congenital stationary, autosomal dominant 2
def: "A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia." []
synonym: "Congenital stationary night blindness Rambusch type" [UniProt]
synonym: "Hemeralopia" [UniProt]
synonym: "Hemeralopia congenital essential" [UniProt]
xref: MedGen:C1876182
xref: MeSH:D009755
xref: MIM:163500 "phenotype"
[Term]
id: DI-00373
name: Night blindness, congenital stationary, autosomal dominant 3
def: "A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia." []
synonym: "Congenital stationary night blindness Nougaret type" [UniProt]
synonym: "Hemeralopia congenital essential" [UniProt]
xref: MedGen:C1864870
xref: MeSH:D009755
xref: MIM:610444 "phenotype"
[Term]
id: DI-00374
name: Night blindness, congenital stationary, Oguchi type 1
def: "A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. Congenital stationary night blindness Oguchi type is an autosomal recessive form associated with fundus discoloration and abnormally slow dark adaptation." []
synonym: "Oguchi disease 1" [UniProt]
synonym: "Oguchi disease-1" [UniProt]
xref: MedGen:C1306122
xref: MeSH:D009755
xref: MIM:258100 "phenotype"
[Term]
id: DI-00375
name: Night blindness, congenital stationary, 1A
def: "A non-progressive retinal disorder characterized by impaired night vision. Congenital stationary night blindness type 1A is characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity." []
synonym: "Complete X-linked CSNB" [UniProt]
synonym: "Congenital stationary night blindness with myopia" [UniProt]
synonym: "Hemeralopia-myopia" [UniProt]
synonym: "Nyctalopia" [UniProt]
synonym: "X-linked congenital stationary night blindness" [UniProt]
synonym: "XLCSNB" [UniProt]
xref: MedGen:C1839601
xref: MedGen:C3495587
xref: MeSH:D009755
xref: MIM:310500 "phenotype"
[Term]
id: DI-00376
name: Night blindness, congenital stationary, 2A
def: "A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia." []
synonym: "Congenital stationary night blindness type 2" [UniProt]
synonym: "Incomplete X-linked CSNB" [UniProt]
xref: MedGen:C1848172
xref: MeSH:D009755
xref: MIM:300071 "phenotype"
[Term]
id: DI-00377
name: Night blindness, congenital stationary, 1B
def: "A non-progressive retinal disorder characterized by impaired night vision. Congenital stationary night blindness type 1B is an autosomal recessive form associated with a negative electroretinogram waveform. Patients are night blind from an early age, and when maximally dark- adapted, they could perceive lights only with an intensity equal to or slightly dimmer than that normally detected by the cone system. ERGs in response to single brief flashes of light have clearly detectable a-waves, which are derived from photoreceptors, and greatly reduced b- waves, which are derived from the second-order inner retinal neurons. ERGs in response to sawtooth flickering light indicate a markedly reduced on response and a nearly normal OFF response. There is no subjective delay in the perception of suddenly appearing white vs black objects on a gray background." []
synonym: "Complete autosomal recessive CSNB" [UniProt]
synonym: "Complete congenital stationary night blindness autosomal recessive" [UniProt]
xref: MedGen:C1850362
xref: MeSH:D009755
xref: MIM:257270 "phenotype"
[Term]
id: DI-00378
name: Cone-rod synaptic disorder, congenital non-progressive
def: "A non-progressive retinal disorder characterized by stable low vision, nystagmus, photophobia, a normal or near-normal fundus appearance, and no night blindness." []
synonym: "CSNB2B" [UniProt]
synonym: "Incomplete autosomal recessive CSNB" [UniProt]
synonym: "Incomplete congenital stationary night blindness autosomal recessive" [UniProt]
synonym: "Night blindness, congenital stationary, 2B" [UniProt]
xref: MedGen:C1864877
xref: MeSH:D014786
xref: MIM:610427 "phenotype"
[Term]
id: DI-00379
name: Cornelia de Lange syndrome 1
def: "A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies." []
synonym: "Amstelodamensis typus degenerativus" [UniProt]
xref: MedGen:C0270972
xref: MedGen:CN029798
xref: MeSH:D003635
xref: MIM:122470 "phenotype"
[Term]
id: DI-00380
name: Cornelia de Lange syndrome 2
def: "A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies." []
synonym: "Cornelia de Lange syndrome X-linked" [UniProt]
xref: MedGen:C1802395
xref: MeSH:D003635
xref: MIM:300590 "phenotype"
[Term]
id: DI-00381
name: Cortical dysplasia-focal epilepsy syndrome
def: "A disease characterized by cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes. Intractable focal seizures begin in early childhood, after which language regression, hyperactivity, impulsive and aggressive behavior, and intellectual disability develop." []
xref: MedGen:C1864887
xref: MeSH:D054220
xref: MIM:610042 "phenotype"
[Term]
id: DI-00382
name: Craniosynostosis 2
def: "A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. CRS2 is characterized by either fronto-orbital recession, or frontal bossing, or turribrachycephaly, or cloverleaf skull. Associated features include severe headache, high incidence of visual problems (myopia or hyperopia), and short first metatarsals. Intelligence is normal." []
synonym: "Craniosynostosis Boston type" [UniProt]
synonym: "Craniosynostosis Boston-type" [UniProt]
synonym: "Craniosynostosis Warman type" [UniProt]
synonym: "Craniosynostosis Warman-type" [UniProt]
synonym: "CSB" [UniProt]
synonym: "Warman-Mulliken-Hayward syndrome" [UniProt]
xref: MedGen:C1858160
xref: MeSH:D003398
xref: MIM:604757 "phenotype"
[Term]
id: DI-00383
name: Crouzon syndrome
def: "An autosomal dominant syndrome characterized by craniosynostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism." []
synonym: "CFD1" [UniProt]
synonym: "Craniofacial dysostosis type I" [UniProt]
synonym: "Crouzon craniofacial dysostosis" [UniProt]
xref: MedGen:C0010273
xref: MedGen:C2931196
xref: MeSH:D003394
xref: MIM:123500 "phenotype"
[Term]
id: DI-00384
name: D-2-hydroxyglutaric aciduria 1
def: "A rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2- hydroxyglutaric acid in the urine." []
synonym: "D2HA" [UniProt]
xref: MedGen:C1833429
xref: MedGen:C3152055
xref: MeSH:D020739
xref: MIM:600721 "phenotype"
[Term]
id: DI-00385
name: Danon disease
def: "DAND is a lysosomal glycogen storage disease characterized by the clinical triad of cardiomyopathy, vacuolar myopathy and intellectual disability. It is often associated with an accumulation of glycogen in muscle and lysosomes." []
synonym: "Glycogen storage disease IIb" [UniProt]
synonym: "GSD-IIb" [UniProt]
synonym: "GSD2B" [UniProt]
synonym: "Lysosomal glycogen storage disease without acid maltase deficiency" [UniProt]
synonym: "Pseudoglycogenosis II" [UniProt]
synonym: "Vacuolar cardiomyopathy and myopathy X-linked" [UniProt]
xref: MedGen:C0878677
xref: MeSH:D052120
xref: MIM:300257 "phenotype"
[Term]
id: DI-00386
name: Dent disease 2
def: "An X-linked renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Characteristic abnormalities include low- molecular-weight proteinuria and other features of Fanconi syndrome, such as glycosuria, aminoaciduria, and phosphaturia, but typically do not include proximal renal tubular acidosis. Progressive renal failure is common, as are nephrocalcinosis and kidney stones." []
xref: MedGen:C1845167
xref: MeSH:D015499
xref: MIM:300555 "phenotype"
[Term]
id: DI-00387
name: Dejerine-Sottas syndrome
def: "A severe degenerating neuropathy of the demyelinating Charcot-Marie- Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome." []
synonym: "Charcot-Marie-Tooth disease demyelinating type 4F" [UniProt]
synonym: "Charcot-Marie-Tooth disease type 3" [UniProt]
synonym: "Charcot-Marie-Tooth disease type 4F" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 4F" [UniProt]
synonym: "CMT4F" [UniProt]
synonym: "Hereditary motor and sensory neuropathy III" [UniProt]
synonym: "HMSN III" [UniProt]
synonym: "HMSN3" [UniProt]
synonym: "Hypertrophic neuropathy of Dejerine-Sottas" [UniProt]
xref: MedGen:C0011195
xref: MedGen:CN069172
xref: MedGen:CN069174
xref: MeSH:D015417
xref: MIM:145900 "phenotype"
[Term]
id: DI-00388
name: Dermatopathia pigmentosa reticularis
def: "A rare ectodermal dysplasia characterized by lifelong persistent reticulate hyperpigmentation, non-cicatricial alopecia, and nail dystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis." []
xref: MedGen:C0406778
xref: MeSH:D004476
xref: MIM:125595 "phenotype"
[Term]
id: DI-00389
name: De Sanctis-Cacchione syndrome
def: "An autosomal recessive syndrome consisting of xeroderma pigmentosum associated with severe neurological and developmental involvement. In addition to the clinical signs of xeroderma pigmentosum, patients present with intellectual disability, dwarfism, gonadal hypoplasia, microcephaly and various neurologic complications of early onset." []
synonym: "Xerodermic idiocy" [UniProt]
synonym: "Xerodermic idiocy of de Sanctis and Cacchione" [UniProt]
xref: MedGen:C0265201
xref: MeSH:D008607
xref: MeSH:D014983
xref: MIM:278800 "phenotype"
[Term]
id: DI-00390
name: Diabetes insipidus, nephrogenic, 2, autosomal
def: "A disorder caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. Characterized by excessive water drinking (polydipsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia. Inheritance can be autosomal dominant or recessive." []
synonym: "Diabetes insipidus nephrogenic type 2" [UniProt]
xref: MedGen:C1563706
xref: MeSH:D018500
xref: MIM:125800 "phenotype"
[Term]
id: DI-00391
name: Diabetes insipidus, nephrogenic, 1, X-linked
def: "A disorder caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. Characterized by excessive water drinking (polydipsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia." []
synonym: "Diabetes insipidus nephrogenic type 1" [UniProt]
synonym: "NDI" [UniProt]
xref: MedGen:C1563705
xref: MeSH:D018500
xref: MIM:304800 "phenotype"
[Term]
id: DI-00392
name: Diamond-Blackfan anemia 1
def: "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies." []
synonym: "Aase syndrome" [UniProt]
synonym: "Aase-Smith syndrome II" [UniProt]
synonym: "BDS" [UniProt]
synonym: "Blackfan-Diamond syndrome" [UniProt]
synonym: "Chronic congenital aregenerative anemia" [UniProt]
synonym: "Congenital erythroid hypoplastic anemia" [UniProt]
synonym: "Congenital hypoplastic anemia of Blackfan and Diamond" [UniProt]
synonym: "DBA" [UniProt]
synonym: "Erythrogenesis imperfecta" [UniProt]
synonym: "Pure hereditary red cell aplasia" [UniProt]
xref: MedGen:C1260899
xref: MedGen:C2676137
xref: MeSH:D029503
xref: MIM:105650 "phenotype"
[Term]
id: DI-00393
name: Diamond-Blackfan anemia 3
def: "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies." []
xref: MedGen:C1857719
xref: MeSH:D029503
xref: MIM:610629 "phenotype"
[Term]
id: DI-00394
name: Diamond-Blackfan anemia 4
def: "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies." []
xref: MedGen:C2675860
xref: MeSH:D029503
xref: MIM:612527 "phenotype"
[Term]
id: DI-00395
name: Diamond-Blackfan anemia 5
def: "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies." []
xref: MedGen:C2675859
xref: MeSH:D029503
xref: MIM:612528 "phenotype"
[Term]
id: DI-00396
name: Diamond-Blackfan anemia 6
def: "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies." []
synonym: "Aase syndrome" [UniProt]
synonym: "Aase-Smith syndrome II" [UniProt]
xref: MedGen:C0265265
xref: MeSH:D029503
xref: MIM:612561 "phenotype"
[Term]
id: DI-00397
name: Diamond-Blackfan anemia 7
def: "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies." []
xref: MedGen:C2675512
xref: MeSH:D029503
xref: MIM:612562 "phenotype"
[Term]
id: DI-00398
name: Diamond-Blackfan anemia 8
def: "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies." []
xref: MedGen:C2675511
xref: MeSH:D029503
xref: MIM:612563 "phenotype"
[Term]
id: DI-00399
name: Diastrophic dysplasia
def: "An autosomal recessive disease characterized by osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities." []
synonym: "DD" [UniProt]
synonym: "Diastrophic dwarfism" [UniProt]
xref: MedGen:C0220726
xref: MedGen:C1857255
xref: MeSH:D004392
xref: MeSH:D010009
xref: MIM:222600 "phenotype"
[Term]
id: DI-00400
name: Neuronopathy, distal hereditary motor, autosomal dominant 2
def: "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs." []
synonym: "Charcot-Marie-Tooth disease spinal IIA" [UniProt]
synonym: "dHMN2A" [UniProt]
synonym: "Distal hereditary motor neuropathy type IIA" [UniProt]
synonym: "HMN IIA" [UniProt]
synonym: "HMN2A" [UniProt]
synonym: "Neuronopathy, distal hereditary motor, 2A" [UniProt]
synonym: "Spinal muscular atrophy distal adult autosomal dominant IIA" [UniProt]
xref: MedGen:C1834692
xref: MeSH:D009134
xref: MIM:158590 "phenotype"
[Term]
id: DI-00401
name: Neuronopathy, distal hereditary motor, autosomal dominant 3
def: "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs." []
synonym: "dHMN II" [UniProt]
synonym: "dHMN2B" [UniProt]
synonym: "Distal hereditary motor neuropathy type IIB" [UniProt]
synonym: "HMN IIB" [UniProt]
synonym: "HMN2B" [UniProt]
synonym: "Neuronopathy, distal hereditary motor, 2B" [UniProt]
xref: MedGen:C2608087
xref: MeSH:D009134
xref: MIM:608634 "phenotype"
[Term]
id: DI-00402
name: Neuronopathy, distal hereditary motor, autosomal dominant 5
def: "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs." []
synonym: "dHMN V" [UniProt]
synonym: "DHMN VA" [UniProt]
synonym: "dHMN5" [UniProt]
synonym: "DHMN5A" [UniProt]
synonym: "Distal hereditary motor neuronopathy type VA" [UniProt]
synonym: "Distal hereditary motor neuropathy type V" [UniProt]
synonym: "Distal hereditary motor neuropathy type VA" [UniProt]
synonym: "DSMA-V" [UniProt]
synonym: "DSMAV" [UniProt]
synonym: "DSMAVA" [UniProt]
synonym: "HMN V" [UniProt]
synonym: "HMN VA" [UniProt]
synonym: "HMN5A" [UniProt]
synonym: "Neuronopathy, distal hereditary motor, 5A" [UniProt]
synonym: "Spinal muscular atrophy distal type V" [UniProt]
synonym: "Spinal muscular atrophy distal type VA" [UniProt]
synonym: "Spinal muscular atrophy distal with upper limb predominance" [UniProt]
xref: MedGen:C1833308
xref: MeSH:D009134
xref: MIM:600794 "phenotype"
[Term]
id: DI-00403
name: Neuronopathy, distal hereditary motor, autosomal recessive 1
def: "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs." []
synonym: "dHMN VI" [UniProt]
synonym: "dHMN6" [UniProt]
synonym: "Diaphragmatic spinal muscular atrophy" [UniProt]
synonym: "Distal hereditary motor neuropathy type VI" [UniProt]
synonym: "DSMA1" [UniProt]
synonym: "HMN VI" [UniProt]
synonym: "HMN6" [UniProt]
synonym: "Neuronopathy, distal hereditary motor, 6" [UniProt]
synonym: "Severe infantile axonal neuronopathy with respiratory failure" [UniProt]
synonym: "Severe infantile axonal neuropathy with respiratory failure" [UniProt]
synonym: "SIANRF" [UniProt]
synonym: "SMARD1" [UniProt]
synonym: "Spinal muscular atrophy distal autosomal recessive 1" [UniProt]
synonym: "Spinal muscular atrophy with respiratory distress 1" [UniProt]
xref: MedGen:C1858517
xref: MeSH:D009134
xref: MIM:604320 "phenotype"
[Term]
id: DI-00404
name: Neuronopathy, distal hereditary motor, autosomal dominant 14
def: "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs." []
synonym: "dHMN7B" [UniProt]
synonym: "Distal hereditary motor neuropathy type VIIB" [UniProt]
synonym: "Distal hereditary motor neuropathy with vocal cord paralysis type VIIB" [UniProt]
synonym: "HMN VIIB" [UniProt]
synonym: "HMN7B" [UniProt]
synonym: "Lower motor neuron disease dynactin type" [UniProt]
synonym: "Neuronopathy, distal hereditary motor, 7B" [UniProt]
synonym: "PLMND" [UniProt]
synonym: "Progressive lower motor neuron disease" [UniProt]
xref: MedGen:C1843315
xref: MeSH:D009134
xref: MIM:607641 "phenotype"
[Term]
id: DI-00405
name: Neuronopathy, distal hereditary motor, autosomal recessive 4
def: "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMNR4 is characterized by childhood onset, generalized muscle weakness and atrophy with denervation and normal sensation. Bulbar symptoms and pyramidal signs are absent." []
synonym: "Distal spinal muscular atrophy, autosomal recessive, 4" [UniProt]
synonym: "DSMA4" [UniProt]
synonym: "Neuropathy, distal hereditary motor, autosomal recessive 4" [UniProt]
xref: MedGen:C1970211
xref: MeSH:D009134
xref: MIM:611067 "phenotype"
[Term]
id: DI-00406
name: Dyggve-Melchior-Clausen syndrome
def: "A rare autosomal recessive disorder belonging to the group of spondyloepimetaphyseal dysplasias. DMC is characterized by progressive short stature with short trunk dwarfism, microcephaly, protruding sternum, and psychomotor retardation. Radiological features include a platyspondyly with double vertebral humps, an epiphyso-metaphyseal dysplasia and lacy pelvis iliac crests." []
xref: MedGen:C0265286
xref: MeSH:D001848
xref: MIM:223800 "phenotype"
[Term]
id: DI-00407
name: Dyskeratosis congenita, autosomal dominant, 2
def: "A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy." []
synonym: "Dyskeratosis congenita Scoggins type" [UniProt]
xref: MedGen:C3151443
xref: MeSH:D019871
xref: MIM:613989 "phenotype"
[Term]
id: DI-00408
name: Dyskeratosis congenita, autosomal recessive, 1
def: "A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy." []
xref: MedGen:C1857144
xref: MeSH:D019871
xref: MIM:224230 "phenotype"
[Term]
id: DI-00409
name: Dyskeratosis congenita, X-linked
def: "A rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy." []
synonym: "Zinsser-Cole-Engman syndrome" [UniProt]
xref: MedGen:C1148551
xref: MeSH:D019871
xref: MIM:305000 "phenotype"
[Term]
id: DI-00410
name: Segawa syndrome autosomal recessive
def: "A form of DOPA-responsive dystonia presenting in infancy or early childhood. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Some cases present with parkinsonian symptoms in infancy. Unlike all other forms of dystonia, it is an eminently treatable condition, due to a favorable response to L-DOPA." []
synonym: "Autosomal recessive DOPA-responsive dystonia" [UniProt]
synonym: "Autosomal recessive infantile parkinsonism" [UniProt]
synonym: "Dystonia, DOPA-responsive, autosomal recessive" [UniProt]
synonym: "THD" [UniProt]
synonym: "Tyrosine hydroxylase deficiency" [UniProt]
xref: MedGen:C1854299
xref: MeSH:D020734
xref: MIM:605407 "phenotype"
[Term]
id: DI-00411
name: Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency
def: "A form of DOPA-responsive dystonia. In the majority of cases, patients manifest progressive psychomotor retardation, dystonia and spasticity. Cognitive anomalies are also often present. The disease is due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures." []
synonym: "Motor and cognitive disorder due to sepiapterin reductase deficiency" [UniProt]
synonym: "Sepiapterin reductase deficiency" [UniProt]
synonym: "SPR deficiency" [UniProt]
xref: MedGen:C0268468
xref: MeSH:D004421
xref: MeSH:D011596
xref: MIM:612716 "phenotype"
[Term]
id: DI-00412
name: Dystonia-deafness syndrome 1
def: "An autosomal dominant form of dystonia with juvenile onset, associated with congenital or childhood-onset sensorineural deafness. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. Some DDS1 patients have dysmorphic features, skeletal anomalies, and/or mild developmental delay with impaired intellectual development." []
synonym: "DJO" [UniProt]
synonym: "Dystonia, juvenile-onset" [UniProt]
xref: MedGen:C1846331
xref: MeSH:D004421
xref: MIM:607371 "phenotype"
[Term]
id: DI-00413
name: Dystonia 1, torsion, autosomal dominant
def: "A primary torsion dystonia, and the most common and severe form. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 1 is characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body, in the absence of other neurological symptoms. Typically, symptoms develop first in an arm or leg in middle to late childhood and progress in approximately 30% of patients to other body regions (generalized dystonia) within about five years. 'Torsion' refers to the twisting nature of body movements observed in DYT1, often affecting the trunk. Distribution and severity of symptoms vary widely between affected individuals, ranging from mild focal dystonia to severe generalized dystonia, even within families." []
synonym: "Autosomal dominant torsion dystonia 1" [UniProt]
synonym: "Dystonia musculorum deformans 1" [UniProt]
synonym: "Dystonia-1" [UniProt]
synonym: "Early-onset torsion dystonia" [UniProt]
synonym: "EOTD" [UniProt]
synonym: "Oppenheim's dystonia" [UniProt]
synonym: "Oppenheim-Ziehen disease" [UniProt]
xref: MedGen:C1851945
xref: MeSH:D004422
xref: MIM:128100 "phenotype"
[Term]
id: DI-00414
name: Dystonia 3, torsion, X-linked
def: "An X-linked dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT3 is characterized by severe progressive torsion dystonia followed by parkinsonism. It has a well-defined pathology of extensive neuronal loss and mosaic gliosis in the striatum (caudate nucleus and putamen) which appears to resemble that in Huntington disease." []
synonym: "Dystonia-3" [UniProt]
synonym: "Lubag" [UniProt]
synonym: "Torsion dystonia-parkinsonism Filipino type" [UniProt]
synonym: "X-linked dystonia-parkinsonism" [UniProt]
synonym: "X-linked torsion dystonia 3" [UniProt]
synonym: "XDP" [UniProt]
xref: MedGen:C1839130
xref: MeSH:D004421
xref: MIM:314250 "phenotype"
[Term]
id: DI-00415
name: Dystonia, dopa-responsive
def: "A form of dystonia that responds to L-DOPA treatment without side effects. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DRD typically presents in childhood with walking problems due to dystonia of the lower limbs and worsening of the dystonia towards the evening. It is characterized by postural and motor disturbances showing marked diurnal fluctuation. Torsion of the trunk is unusual. Symptoms are alleviated after sleep and aggravated by fatigue and exercise." []
synonym: "Autosomal dominant dopa-responsive dystonia" [UniProt]
synonym: "Autosomal dominant Segawa syndrome" [UniProt]
synonym: "DRD" [UniProt]
synonym: "Dystonia 5" [UniProt]
synonym: "Dystonia-5" [UniProt]
synonym: "Dystonia-parkinsonism with diurnal fluctuation" [UniProt]
synonym: "DYT5" [UniProt]
synonym: "Progressive dystonia with diurnal fluctuation" [UniProt]
xref: MedGen:C1851920
xref: MeSH:D004421
xref: MeSH:D020821
xref: MIM:128230 "phenotype"
[Term]
id: DI-00416
name: Dystonia 6, torsion
def: "A primary torsion dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 6 is characterized by onset in early adulthood, cranial or cervical involvement in about half of the cases, and frequent progression to involve multiple body regions." []
synonym: "Adult-onset torsion dystonia mixed type" [UniProt]
synonym: "Autosomal dominant torsion dystonia 6" [UniProt]
synonym: "Dystonia-6" [UniProt]
synonym: "Torsion dystonia type 6" [UniProt]
xref: MedGen:C1414216
xref: MeSH:D004421
xref: MIM:602629 "phenotype"
[Term]
id: DI-00417
name: Dystonia 8
def: "A paroxysmal non-kinesigenic dystonia/dyskinesia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 8 is characterized by attacks of involuntary movements brought on by stress, alcohol, fatigue or caffeine. The attacks generally last between a few seconds and four hours or longer. The attacks may begin in one limb and spread throughout the body, including the face." []
synonym: "Choreoathetosis nonkinesigenic" [UniProt]
synonym: "Dystonia-8" [UniProt]
synonym: "Familial paroxysmal choreoathetosis" [UniProt]
synonym: "FPD1" [UniProt]
synonym: "Mount-Reback syndrome" [UniProt]
synonym: "Paroxysmal dystonic choreoathetosis" [UniProt]
synonym: "Paroxysmal nonkinesigenic dyskinesia 1" [UniProt]
synonym: "PDC" [UniProt]
synonym: "PNKD1" [UniProt]
xref: MedGen:C1869117
xref: MeSH:D002819
xref: MeSH:D004421
xref: MIM:118800 "phenotype"
[Term]
id: DI-00418
name: Dystonia 11, myoclonic
def: "A myoclonic dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT11 is characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Inheritance is autosomal dominant. The age of onset, pattern of body involvement, presence of myoclonus and response to alcohol are all variable." []
synonym: "Alcohol-responsive dystonia" [UniProt]
synonym: "Dystonia-11" [UniProt]
synonym: "Myoclonic dystonia" [UniProt]
synonym: "Myoclonus-dystonia syndrome" [UniProt]
xref: MedGen:C1834570
xref: MeSH:D004421
xref: MeSH:D009207
xref: MIM:159900 "phenotype"
[Term]
id: DI-00419
name: Dystonia 12
def: "An autosomal dominant dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT12 patients develop dystonia and parkinsonism between 15 and 45 years of age. The disease is characterized by an unusually rapid evolution of signs and symptoms. The sudden onset of symptoms over hours to a few weeks, often associated with physical or emotional stress, suggests a trigger initiating a nervous system insult resulting in permanent neurologic disability." []
synonym: "Dystonia-12" [UniProt]
synonym: "Rapid-onset dystonia-parkinsonism" [UniProt]
synonym: "RDP" [UniProt]
xref: MedGen:C1868681
xref: MeSH:D004421
xref: MIM:128235 "phenotype"
[Term]
id: DI-00420
name: Dystonia 16
def: "An early-onset dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT16 patients have progressive, generalized dystonia with axial muscle involvement, oro-mandibular (sardonic smile) and laryngeal dystonia and, in some cases, parkinsonian features." []
synonym: "Dystonia-16" [UniProt]
xref: MedGen:C2677567
xref: MeSH:D004421
xref: MIM:612067 "phenotype"
[Term]
id: DI-00421
name: GLUT1 deficiency syndrome 2
def: "A clinically variable disorder characterized primarily by onset in childhood of paroxysmal exercise-induced dyskinesia. The dyskinesia involves transient abnormal involuntary movements, such as dystonia and choreoathetosis, induced by exercise or exertion, and affecting the exercised limbs. Some patients may also have epilepsy, most commonly childhood absence epilepsy. Mild intellectual disability may also occur. In some patients involuntary exertion-induced dystonic, choreoathetotic, and ballistic movements may be associated with macrocytic hemolytic anemia." []
synonym: "Dystonia 18" [UniProt]
synonym: "Dystonia-18" [UniProt]
synonym: "DYT18" [UniProt]
synonym: "Paroxysmal exercise-induced dystonia" [UniProt]
synonym: "Paroxysmal exercise-induced dystonia with or without epilepsy and/or hemolytic anemia" [UniProt]
synonym: "Paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia" [UniProt]
synonym: "PED with or without epilepsy and/or hemolytic anemia" [UniProt]
xref: MedGen:C1842534
xref: MeSH:D002819
xref: MeSH:D004421
xref: MIM:612126 "phenotype"
[Term]
id: DI-00422
name: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
def: "A disorder due to abnormal development of two or more ectodermal structures, and characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands." []
synonym: "Ectodermal dysplasia anhidrotic" [UniProt]
synonym: "Ectodermal dysplasia hypohidrotic autosomal recessive" [UniProt]
synonym: "EDA" [UniProt]
synonym: "HED" [UniProt]
xref: MedGen:C0406702
xref: MeSH:D004476
xref: MeSH:D053360
xref: MIM:224900 "phenotype"
[Term]
id: DI-00424
name: Ectodermal dysplasia and immunodeficiency 1
def: "A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDAID1 is an X-linked recessive disorder characterized by absence of sweat glands, sparse scalp hair, rare conical teeth and immunological abnormalities resulting in severe infectious diseases. Severely affected individuals may also show lymphedema, osteopetrosis, and, rarely, hematologic abnormalities. The phenotype is highly variable, and may be fatal in childhood." []
synonym: "Ectodermal dysplasia anhidrotic with immune deficiency" [UniProt]
synonym: "Ectodermal dysplasia hypohidrotic with immunodeficiency" [UniProt]
synonym: "Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked" [UniProt]
synonym: "Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis and lymphedema" [UniProt]
synonym: "EDA-ID" [UniProt]
synonym: "HED-ID" [UniProt]
synonym: "Hyper-IgM immunodeficiency X-linked with ectodermal dysplasia hypohidrotic" [UniProt]
synonym: "NEMO deficiency" [UniProt]
synonym: "OLEDAID" [UniProt]
synonym: "XHM-ED" [UniProt]
xref: MedGen:C1846006
xref: MedGen:C1846007
xref: MedGen:C1846008
xref: MeSH:D004476
xref: MIM:300291 "phenotype"
[Term]
id: DI-00425
name: Ectodermal dysplasia and immunodeficiency 2
def: "A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. This form of ectodermal dysplasia is associated with decreased production of pro-inflammatory cytokines and certain interferons, rendering patients susceptible to infection. EDAID2 inheritance is autosomal dominant." []
synonym: "Ectodermal dysplasia hypohidrotic with immunodeficiency" [UniProt]
synonym: "Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency autosomal dominant" [UniProt]
synonym: "HED-ID" [UniProt]
xref: MedGen:C2677481
xref: MeSH:D004476
xref: MIM:612132 "phenotype"
[Term]
id: DI-00426
name: Ectodermal dysplasia, Margarita Island type
def: "An autosomal recessive form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is a syndrome characterized by the association of cleft lip/palate, ectodermal dysplasia (sparse short and dry scalp hair, sparse eyebrows and eyelashes), and partial syndactyly of the fingers and/or toes. Two thirds of the patients do not manifest oral cleft but present with abnormal teeth and nails." []
synonym: "Cleft lip/palate-ectodermal dysplasia syndrome" [UniProt]
synonym: "CLPED1" [UniProt]
synonym: "Ectodermal dysplasia Margarita type" [UniProt]
synonym: "Ectodermal dysplasia type 4" [UniProt]
synonym: "ED4" [UniProt]
synonym: "Margarita Island ectodermal dysplasia" [UniProt]
synonym: "Syndactyly-ectodermal dysplasia-cleft lip/palate" [UniProt]
synonym: "Zlotogora-Ogur syndrome" [UniProt]
xref: MedGen:C2931488
xref: MedGen:CN074253
xref: MeSH:D004476
xref: MIM:225060 "phenotype"
[Term]
id: DI-00427
name: Ectodermal dysplasia 4, hair/nail type
def: "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD4 is characterized by complete alopecia, hypotricosis and nail dystrophy in all digits. There is no evidence of any other abnormality. Inheritance can be autosomal dominant or recessive." []
synonym: "Ectodermal dysplasia pure hair-nail type" [UniProt]
xref: MedGen:C1865951
xref: MeSH:D004476
xref: MIM:602032 "phenotype"
[Term]
id: DI-00428
name: Rapp-Hodgkin syndrome
def: "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by the combination of anhidrotic ectodermal dysplasia, cleft lip, and cleft palate. The clinical syndrome is comprised of a characteristic facies (narrow nose and small mouth), wiry, slow- growing, and uncombable hair, sparse eyelashes and eyebrows, obstructed lacrimal puncta/epiphora, bilateral stenosis of external auditory canals, microsomia, hypodontia, cone-shaped incisors, enamel hypoplasia, dystrophic nails, and cleft lip/cleft palate. RHS inheritance is autosomal dominant." []
synonym: "Anhidrotic ectodermal dysplasia with cleft lip/palate" [UniProt]
synonym: "Ectodermal dysplasia, Rapp-Hodgkin type" [UniProt]
synonym: "EDRH" [UniProt]
synonym: "Rapp-Hodgkin ectodermal dysplasia" [UniProt]
xref: MedGen:CN203427
xref: MeSH:D004476
xref: MIM:129400 "phenotype"
[Term]
id: DI-00429
name: Ectodermal dysplasia-skin fragility syndrome
def: "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by features of both cutaneous fragility and congenital ectodermal dysplasia affecting skin, hair and nails. There is no evidence of significant abnormalities in other epithelia or tissues. Desmosomes in the skin are small and poorly formed with widening of keratinocyte intercellular spaces and perturbed desmosome/keratin intermediate filament interactions." []
synonym: "Ectodermal dysplasia/skin fragility syndrome" [UniProt]
synonym: "McGrath syndrome" [UniProt]
xref: MedGen:C1858302
xref: MeSH:D004476
xref: MIM:604536 "phenotype"
[Term]
id: DI-00430
name: Ectodermal dysplasia 1, hypohidrotic, X-linked
def: "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. It is the most common form of over 150 clinically distinct ectodermal dysplasias." []
synonym: "Christ-Siemens-Touraine syndrome" [UniProt]
synonym: "CST syndrome" [UniProt]
synonym: "ECTD1" [UniProt]
synonym: "Ectodermal dysplasia 1" [UniProt]
synonym: "Ectodermal dysplasia 1 hypohidrotic/hair/tooth type X-linked" [UniProt]
synonym: "Ectodermal dysplasia anhidrotic" [UniProt]
synonym: "ED1" [UniProt]
synonym: "EDA" [UniProt]
synonym: "EDA1" [UniProt]
synonym: "XLHED" [UniProt]
xref: MedGen:C0162359
xref: MeSH:D053358
xref: MIM:305100 "phenotype"
[Term]
id: DI-00431
name: Ectodermal dysplasia 2, Clouston type
def: "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD2 is an autosomal dominant condition characterized by atrichosis, nail hypoplasia and deformities, hyperpigmentation of the skin, normal teeth, normal sweat and sebaceous gland function. Palmoplantar hyperkeratosis is a frequent feature. Hearing impairment has been detected in few cases." []
synonym: "Clouston syndrome" [UniProt]
synonym: "Ectodermal dysplasia 2 hidrotic" [UniProt]
synonym: "Ectodermal dysplasia hidrotic autosomal dominant" [UniProt]
synonym: "ED2" [UniProt]
synonym: "HED2" [UniProt]
xref: MedGen:C0162361
xref: MeSH:D004476
xref: MIM:129500 "phenotype"
[Term]
id: DI-00432
name: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
def: "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands." []
synonym: "Ectodermal dysplasia 3" [UniProt]
synonym: "Ectodermal dysplasia hypohidrotic autosomal dominant" [UniProt]
synonym: "ED3" [UniProt]
synonym: "EDA3" [UniProt]
synonym: "HED" [UniProt]
xref: MedGen:C1720965
xref: MeSH:D053359
xref: MIM:129490 "phenotype"
[Term]
id: DI-00433
name: Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
def: "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal recessive condition characterized by features of ectodermal dysplasia such as sparse eyebrows and scalp hair, and selective tooth agenesis associated with macular dystrophy and ectrodactyly." []
synonym: "Albrectsen-Svendsen syndrome" [UniProt]
synonym: "EEM syndrome" [UniProt]
synonym: "Ohdo-Hirayama-Terawaki syndrome" [UniProt]
xref: MedGen:C1857041
xref: MeSH:D004476
xref: MeSH:D008268
xref: MeSH:D017880
xref: MIM:225280 "phenotype"
[Term]
id: DI-00434
name: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
def: "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant syndrome characterized by ectrodactyly of hands and feet, ectodermal dysplasia and facial clefting." []
xref: MedGen:C1858562
xref: MeSH:D002972
xref: MeSH:D004476
xref: MeSH:D017880
xref: MIM:604292 "phenotype"
[Term]
id: DI-00435
name: Ehlers-Danlos syndrome, spondylodysplastic type, 1
def: "A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD1 is an autosomal recessive form characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic features of Ehlers-Danlos syndrome." []
synonym: "Defective biosynthesis of PDS" [UniProt]
synonym: "Defective biosynthesis of proteodermatan sulfate" [UniProt]
synonym: "EDSP1" [UniProt]
synonym: "EDSSLA" [UniProt]
synonym: "Ehlers-Danlos syndrome with short stature and limb anomalies" [UniProt]
synonym: "Ehlers-Danlos syndrome, progeroid type, 1" [UniProt]
synonym: "Galactosyltransferase I deficiency" [UniProt]
synonym: "XGPT deficiency" [UniProt]
synonym: "Xylosylprotein 4-beta-galactosyltransferase deficiency" [UniProt]
xref: MedGen:C1869122
xref: MeSH:D004535
xref: MIM:130070 "phenotype"
[Term]
id: DI-00436
name: Ehlers-Danlos syndrome, classic type, 1
def: "A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are joint hypermobility and dislocation, and fragile, bruisable skin. EDSCL1 inheritance is autosomal dominant." []
synonym: "EDS I" [UniProt]
synonym: "EDS1" [UniProt]
synonym: "Ehlers-Danlos syndrome 1" [UniProt]
synonym: "Ehlers-Danlos syndrome, gravis type" [UniProt]
synonym: "Ehlers-Danlos syndrome, severe classic type" [UniProt]
synonym: "Ehlers-Danlos syndrome, type I" [UniProt]
xref: MedGen:C0268335
xref: MeSH:D004535
xref: MIM:130000 "phenotype"
[Term]
id: DI-00437
name: Ehlers-Danlos syndrome, classic type, 2
def: "A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are joint hypermobility and dislocation, and fragile, bruisable skin. EDSCL2 inheritance is autosomal dominant." []
synonym: "EDS II" [UniProt]
synonym: "EDS2" [UniProt]
synonym: "Ehlers-Danlos syndrome 2" [UniProt]
synonym: "Ehlers-Danlos syndrome mild classic type" [UniProt]
synonym: "Ehlers-Danlos syndrome mitis type" [UniProt]
synonym: "Ehlers-Danlos syndrome, type II" [UniProt]
xref: MedGen:C0268336
xref: MeSH:D004535
xref: MIM:130010 "phenotype"
[Term]
id: DI-00438
name: Ehlers-danlos syndrome, hypermobility type
def: "A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. It is a form of Ehlers-Danlos syndrome characterized by marked joint hyperextensibility without skeletal deformity." []
synonym: "Benign hypermobility syndrome" [UniProt]
synonym: "EDS III" [UniProt]
synonym: "Ehlers-Danlos syndrome, hypermobility type" [UniProt]
synonym: "Ehlers-Danlos syndrome, type III" [UniProt]
xref: MedGen:C0268337
xref: MeSH:D004535
xref: MIM:130020 "phenotype"
[Term]
id: DI-00439
name: Ehlers-Danlos syndrome, vascular type
def: "A severe form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSVASC is an autosomal dominant disease characterized by joint and dermal manifestations as in other forms of the syndrome, and by proneness to spontaneous rupture of bowel and large arteries. The vascular complications may affect all anatomical areas." []
synonym: "EDS IV" [UniProt]
synonym: "EDS4" [UniProt]
synonym: "Ehlers-Danlos syndrome 4" [UniProt]
synonym: "Ehlers-Danlos syndrome arterial type" [UniProt]
synonym: "Ehlers-Danlos syndrome ecchymotic type" [UniProt]
synonym: "Ehlers-Danlos syndrome, type IV, autosomal dominant" [UniProt]
synonym: "Sack-Barabas syndrome" [UniProt]
xref: MedGen:C0268338
xref: MeSH:D004535
xref: MIM:130050 "phenotype"
[Term]
id: DI-00440
name: Ehlers-Danlos syndrome, kyphoscoliotic type, 1
def: "A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSKSCL1 is an autosomal recessive form characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe." []
synonym: "EDS VI" [UniProt]
synonym: "EDS VIA" [UniProt]
synonym: "EDS6" [UniProt]
synonym: "EDS6A" [UniProt]
synonym: "Ehlers-Danlos syndrome 6" [UniProt]
synonym: "Ehlers-Danlos syndrome kyphoscoliotic type" [UniProt]
synonym: "Ehlers-Danlos syndrome oculoscoliotic type" [UniProt]
synonym: "Nevo syndrome" [UniProt]
xref: MedGen:C0268342
xref: MeSH:D004535
xref: MIM:225400 "phenotype"
[Term]
id: DI-00441
name: Brittle cornea syndrome 1
def: "A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints. It shares some features with, but is much less severe than, the ocular form of Ehlers-Danlos syndrome (EDS6)." []
synonym: "Corneal fragility keratoglobus blue sclerae joint hyperextensibility" [UniProt]
synonym: "Dysgenesis mesodermalis corneae et sclerae" [UniProt]
synonym: "EDS6B formerly" [UniProt]
synonym: "Ehlers-Danlos syndrome type VIB formerly" [UniProt]
synonym: "Fragilitas oculi with joint hyperextensibility" [UniProt]
xref: MedGen:C0268344
xref: MeSH:D004535
xref: MIM:229200 "phenotype"
[Term]
id: DI-00442
name: Ehlers-Danlos syndrome, arthrochalasia type, 1
def: "A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSARTH1 is an autosomal dominant form characterized by frequent congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement." []
synonym: "Arthrochalasis multiplex congenita" [UniProt]
synonym: "EDS VII mutant procollagen type" [UniProt]
synonym: "EDS VIIA" [UniProt]
synonym: "EDS7A" [UniProt]
synonym: "Ehlers-Danlos syndrome 7A" [UniProt]
synonym: "Ehlers-Danlos syndrome arthrochalasic type" [UniProt]
synonym: "Ehlers-Danlos syndrome type VIIA, autosomal dominant" [UniProt]
xref: MedGen:CN071434
xref: MeSH:D004535
xref: MIM:130060 "phenotype"
[Term]
id: DI-00444
name: Ehlers-Danlos syndrome, dermatosparaxis type
def: "A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSDERMS is an autosomal recessive form characterized by extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers. Joint hypermobility becomes more important with age." []
synonym: "Dermatosparaxis" [UniProt]
synonym: "EDS VIIC" [UniProt]
synonym: "EDS7C" [UniProt]
synonym: "Ehlers-Danlos syndrome 7C" [UniProt]
synonym: "Ehlers-Danlos syndrome, type VII, autosomal recessive" [UniProt]
xref: MedGen:C2700425
xref: MeSH:D004535
xref: MIM:225410 "phenotype"
[Term]
id: DI-00445
name: Elliptocytosis 1
def: "A Rhesus-linked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape." []
synonym: "Elliptocytosis Rhesus-linked type" [UniProt]
synonym: "Ovalocytosis" [UniProt]
xref: MedGen:C2678497
xref: MeSH:D004612
xref: MIM:611804 "phenotype"
[Term]
id: DI-00446
name: Elliptocytosis 2
def: "A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape." []
synonym: "Elliptocytosis Rhesus-unlinked type" [UniProt]
synonym: "Ovalocytosis" [UniProt]
xref: MedGen:C1851741
xref: MeSH:D004612
xref: MIM:130600 "phenotype"
[Term]
id: DI-00447
name: Elliptocytosis 3
def: "A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous hematologic disorder characterized by variable hemolytic anemia and elliptical or oval red cell shape. Inheritance can be autosomal dominant or autosomal recessive." []
synonym: "Elliptocytosis Rhesus-unlinked type" [UniProt]
synonym: "Ovalocytosis" [UniProt]
xref: MedGen:C1866810
xref: MeSH:D004612
xref: MIM:617948 "phenotype"
[Term]
id: DI-00448
name: Ovalocytosis, Southeast Asian
def: "An autosomal dominant hematologic disorder characterized by ovalocytic erythrocytes that are rigid and exhibit reduced expression of many erythrocyte antigens. Clinical manifestations include mild hemolysis, intermittent jaundice and gallstones. However, the disorder is most often asymptomatic." []
synonym: "EL4" [UniProt]
synonym: "Elliptocytosis 4" [UniProt]
synonym: "Elliptocytosis, stomatocytic hereditary" [UniProt]
synonym: "HE, stomatocytic" [UniProt]
synonym: "Ovalocytosis, Malaysian-Melanesian-Filipino type" [UniProt]
synonym: "Ovalocytosis, SA type" [UniProt]
xref: MedGen:C1833690
xref: MedGen:C1862322
xref: MedGen:C1862324
xref: MedGen:C1862326
xref: MeSH:D004612
xref: MIM:166900 "phenotype"
[Term]
id: DI-00449
name: Ellis-van Creveld syndrome
def: "An autosomal recessive condition characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals." []
synonym: "Chondroectodermal dysplasia" [UniProt]
synonym: "Mesoectodermal dysplasia" [UniProt]
xref: MedGen:C0013903
xref: MeSH:D004613
xref: MIM:225500 "phenotype"
[Term]
id: DI-00450
name: Endosteal hyperostosis, Worth type
def: "An autosomal dominant sclerosing bone dysplasia clinically characterized by elongation of the mandible, increased gonial angle, flattened forehead, and the presence of a slowly enlarging osseous prominence of the hard palate (torus palatinus). Serum calcium, phosphorus and alkaline phosphatase levels are normal. Radiologically, it is characterized by early thickening of the endosteum of long bones, the skull and of the mandible. With advancing age, the trabeculae of the metaphysis become thickened. WENHY becomes clinically and radiologically evident by adolescence, does not cause deformity except in the skull and mandible, and is not associated with bone pain or fracture. Affected patients have normal height, proportion, intelligence and longevity." []
synonym: "Endosteal hyperostosis autosomal dominant" [UniProt]
synonym: "Hyperostosis corticalis generalisata benign form of Worth with torus palatinus" [UniProt]
synonym: "Osteosclerosis autosomal dominant" [UniProt]
synonym: "Worth syndrome" [UniProt]
xref: MedGen:C0432273
xref: MeSH:D010009
xref: MIM:144750 "phenotype"
[Term]
id: DI-00451
name: Epidermolysis bullosa dystrophica, autosomal dominant
def: "A group of autosomal dominant blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations." []
synonym: "Albopapuloid dominant dystrophic epidermolysis bullosa" [UniProt]
synonym: "Autosomal dominant dystrophic epidermolysis bullosa" [UniProt]
synonym: "EBDCT" [UniProt]
synonym: "EBDD" [UniProt]
synonym: "Epidermolysis bullosa dystrophica, Cockayne-Touraine type" [UniProt]
synonym: "Epidermolysis bullosa dystrophica, Pasini type" [UniProt]
xref: MedGen:C0432322
xref: MeSH:D016108
xref: MIM:131750 "phenotype"
[Term]
id: DI-00452
name: Epidermolysis bullosa dystrophica, Bart type
def: "An autosomal dominant form of dystrophic epidermolysis bullosa characterized by congenital localized absence of skin, skin fragility and deformity of nails." []
synonym: "Epidermolysis bullosa with congenital localized absence of skin and deformity of nails" [UniProt]
xref: MedGen:C0268371
xref: MeSH:D016108
xref: MIM:132000 "phenotype"
[Term]
id: DI-00455
name: Epidermolysis bullosa dystrophica, pretibial type
def: "A form of dystrophic epidermolysis bullosa characterized by pretibial blisters that develop into prurigo-like hyperkeratotic lesions. It predominantly affects the pretibial areas, sparing the knees and other parts of the skin. Other clinical features include nail dystrophy, albopapuloid skin lesions, and hypertrophic scars without pretibial predominance. The phenotype shows considerable interindividual variability. Inheritance is autosomal dominant." []
xref: MedGen:C0432321
xref: MeSH:D016108
xref: MIM:131850 "phenotype"
[Term]
id: DI-00456
name: Epidermolysis bullosa dystrophica, with subcorneal cleavage
def: "A bullous skin disorder with variable sized clefts just beneath the level of the stratum corneum. Clinical features include blisters, milia, atrophic scarring, nail dystrophy, and oral and conjunctival involvement, as seen in dystrophic epidermolysis bullosa." []
xref: MedGen:C2675683
xref: MeSH:D016108
xref: MIM:131750 "phenotype"
[Term]
id: DI-00457
name: Epidermolysis bullosa, junctional 1B, severe
def: "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. Junctional epidermolysis bullosa is characterized by blistering that occurs at the level of the lamina lucida in the skin basement membrane. JEB1B is an autosomal recessive, severe form characterized by bullous lesions appearing at birth, and extensive denudation of skin and mucous membranes that may be hemorrhagic. Death occurs usually within the first six months of life. Occasionally, children survive to teens." []
synonym: "Epidermolysis bullosa, junctional, Herlitz type" [UniProt]
synonym: "Epidermolysis letalis" [UniProt]
synonym: "Junctional epidermolysis bullosa gravis" [UniProt]
synonym: "Junctional epidermolysis bullosa Herlitz-Pearson type" [UniProt]
xref: MedGen:C0079683
xref: MeSH:D016109
xref: MIM:226700 "phenotype"
[Term]
id: DI-00458
name: Epidermolysis bullosa, junctional 5B, with pyloric atresia
def: "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. Junctional epidermolysis bullosa is characterized by blistering that occurs at the level of the lamina lucida in the skin basement membrane. JEB5B is an autosomal recessive, severe, frequently lethal form with variable involvement of skin, nails, mucosa, and with variable effects on the digestive system. It is characterized by mucocutaneous fragility, aplasia cutis congenita, and gastrointestinal atresia, which most commonly affects the pylorus. Pyloric atresia is a primary manifestation rather than a scarring process secondary to epidermolysis bullosa." []
synonym: "Aplasia cutis congenita with gastrointestinal atresia" [UniProt]
synonym: "Carmi syndrome" [UniProt]
synonym: "Epidermolysis bullosa letalis, with pyloric atresia" [UniProt]
synonym: "Junctional epidermolysis bullosa with pyloric atresia" [UniProt]
synonym: "PA-JEB" [UniProt]
xref: MedGen:C1856934
xref: MeSH:D016109
xref: MIM:226730 "phenotype"
[Term]
id: DI-00459
name: Epidermolysis bullosa, lethal acantholytic
def: "A form of epidermolysis bullosa characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and nail loss. Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer, mimicking pemphigus." []
synonym: "LAEB" [UniProt]
synonym: "Lethal acantholytic epidermolysis bullosa" [UniProt]
xref: MedGen:C1864826
xref: MeSH:D016109
xref: MIM:609638 "phenotype"
[Term]
id: DI-00460
name: Epidermolysis bullosa pruriginosa
def: "A distinct clinical subtype of epidermolysis bullosa dystrophica. It is characterized by skin fragility, blistering, scar formation, intense pruritus and excoriated prurigo nodules. Onset is in early childhood, but in some cases is delayed until the second or third decade of life. Inheritance can be autosomal dominant or recessive." []
xref: MedGen:C1275114
xref: MeSH:D016108
xref: MIM:604129 "phenotype"
[Term]
id: DI-00461
name: Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
def: "A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1D is an autosomal recessive form characterized by blistering beginning at birth or early childhood. In some patients hands and feet are primarily affected, and in others blistering anywhere on the body may occur. In some patients the condition improves with age." []
synonym: "EBSB1" [UniProt]
synonym: "Epidermolysis bullosa simplex, autosomal recessive 1" [UniProt]
xref: MedGen:C1832926
xref: MeSH:D016110
xref: MIM:601001 "phenotype"
[Term]
id: DI-00462
name: Epidermolysis bullosa simplex 1A, generalized severe
def: "A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1A is an autosomal dominant form characterized by generalized intraepidermal skin blistering that begins and is very prominent at birth. EBS1A may be life-threatening in the first year of life. Tendency to blistering diminishes in adolescence." []
synonym: "DM-EBS" [UniProt]
synonym: "EBS-DM" [UniProt]
synonym: "Epidermolysis bullosa herpetiformis, Dowling-Meara type" [UniProt]
synonym: "Epidermolysis bullosa simplex, Dowling-Meara type" [UniProt]
synonym: "Epidermolysis bullosa simplex, generalized severe" [UniProt]
xref: MedGen:C0079295
xref: MeSH:D016110
xref: MIM:131760 "phenotype"
[Term]
id: DI-00463
name: Epidermolysis bullosa simplex 1B, generalized intermediate
def: "A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1B is an autosomal dominant form characterized by generalized intraepidermal blistering beginning at birth. The tendency to blistering diminishes in adolescence, when it may become localized to hands and feet." []
synonym: "EBS generalized" [UniProt]
synonym: "EBS2" [UniProt]
synonym: "Epidermolysis bullosa simplex 2" [UniProt]
synonym: "Epidermolysis bullosa simplex, Koebner type" [UniProt]
synonym: "K-EBS" [UniProt]
xref: MedGen:C0079299
xref: MeSH:D016110
xref: MIM:131900 "phenotype"
[Term]
id: DI-00464
name: Epidermolysis bullosa simplex 5A, Ogna type
def: "An autosomal dominant form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. EBS5A patients manifest generalized skin bruising, skin fragility with non-scarring blistering and small hemorrhagic blisters on hands. At the ultrastructural level, EBS5A is differentiated from classical epidermolysis bullosa simplex, by the occurrence of blisters originating in basal cells above hemidesmosomes, and abnormal hemidesmosome intracellular attachment plates." []
synonym: "EBS1" [UniProt]
synonym: "EBSO" [UniProt]
synonym: "Epidermolysis bullosa simplex 1" [UniProt]
synonym: "Epidermolysis bullosa simplex, Ogna type" [UniProt]
synonym: "O-EBS" [UniProt]
xref: MedGen:C0432317
xref: MeSH:D016110
xref: MIM:131950 "phenotype"
[Term]
id: DI-00465
name: Epidermolysis bullosa simplex 1C, localized
def: "A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1C is an autosomal dominant form with intraepidermal blistering mainly restricted to hands and feet beginning in infancy. Nails may be thick and dystrophic." []
synonym: "EBS, acral form" [UniProt]
synonym: "Epidermolysis bullosa of hands and feet" [UniProt]
synonym: "Epidermolysis bullosa simplex, localized" [UniProt]
synonym: "Epidermolysis bullosa simplex, Weber-Cockayne type" [UniProt]
synonym: "WC-EBS" [UniProt]
xref: MedGen:C0080333
xref: MeSH:D016110
xref: MIM:131800 "phenotype"
[Term]
id: DI-00466
name: Epidermolysis bullosa simplex 2E, with migratory circinate erythema
def: "A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2E is an autosomal dominant form in which multiple vesicles are present from birth onward and acquire over time a typical migratory circinate pattern on an erythematous background. Postinflammatory hyperpigmentation develops gradually and may have a mottled pattern." []
synonym: "Epidermolysis bullosa simplex, with migratory circinate erythema" [UniProt]
xref: MedGen:C1836284
xref: MeSH:D016110
xref: MIM:609352 "phenotype"
[Term]
id: DI-00467
name: Epidermolysis bullosa simplex 2F, with mottled pigmentation
def: "A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2F is an autosomal dominant form characterized by generalized skin blistering of intermediate severity beginning at birth, with mottled or reticulate pigmentation developing gradually. Focal keratoses of palms and soles and dystrophic, thickened nails develop over time." []
synonym: "EBSMP" [UniProt]
synonym: "Epidermolysis bullosa simplex, with mottled pigmentation" [UniProt]
synonym: "Speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering" [UniProt]
xref: MedGen:C0432316
xref: MeSH:D016110
xref: MIM:131960 "phenotype"
[Term]
id: DI-00468
name: Epidermolysis bullosa simplex 5B, with muscular dystrophy
def: "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. EBS5B is an autosomal recessive disorder characterized by progressive muscular dystrophy associated with generalized skin blistering." []
synonym: "EBSMD" [UniProt]
synonym: "Epidermolysis bullosa simplex and limb-girdle muscular dystrophy" [UniProt]
synonym: "Epidermolysis bullosa simplex with muscular dystrophy" [UniProt]
synonym: "MD-EBS" [UniProt]
xref: MedGen:C1856936
xref: MedGen:C2931072
xref: MeSH:D004820
xref: MeSH:D049288
xref: MIM:226670 "phenotype"
[Term]
id: DI-00469
name: Epilepsy, idiopathic generalized 11
def: "A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain." []
synonym: "Susceptibility to idiopathic generalized epilepsy 11" [UniProt]
xref: MedGen:C2750893
xref: MeSH:D004829
xref: MIM:607628 "phenotype"
[Term]
id: DI-00470
name: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
def: "A neurologic disorder characterized by variable combinations of epilepsy, learning difficulties, macrocephaly, and aggressive behavior." []
synonym: "Bathing epilepsy, X-linked" [UniProt]
synonym: "Epilepsy, X-linked, with reflex bathing seizures" [UniProt]
xref: MedGen:C1845343
xref: MeSH:D004827
xref: MeSH:D019954
xref: MIM:300491 "phenotype"
[Term]
id: DI-00471
name: Developmental and epileptic encephalopathy 1
def: "A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG." []
synonym: "EIEE1" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 1" [UniProt]
synonym: "Infantile epileptic-dyskinetic encephalopathy" [UniProt]
synonym: "Infantile spasm syndrome X-linked 1" [UniProt]
synonym: "ISSX1" [UniProt]
synonym: "Myoclonic epilepsy X-linked with intellectual disability and spasticity" [UniProt]
synonym: "Ohtahara syndrome X-linked" [UniProt]
synonym: "West syndrome X-linked" [UniProt]
synonym: "XMESID" [UniProt]
xref: MedGen:C0037769
xref: MedGen:C2931919
xref: MedGen:C3463992
xref: MeSH:D013036
xref: MIM:308350 "phenotype"
[Term]
id: DI-00472
name: Developmental and epileptic encephalopathy 2
def: "A severe form of epilepsy characterized by seizures or spasms beginning in infancy. Patients with epileptic encephalopathy early infantile type 2 manifest features resembling Rett syndrome such as microcephaly, lack of speech development, stereotypic hand movements. However, DEE2 and Rett syndrome are considered two distinct entities." []
synonym: "Atypical Rett syndrome CDKL5-related" [UniProt]
synonym: "Atypical Rett syndrome Hanefeld variant" [UniProt]
synonym: "EIEE2" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 2" [UniProt]
synonym: "Infantile spasm syndrome X-linked 2" [UniProt]
synonym: "ISSX2" [UniProt]
synonym: "Rett syndrome early-onset seizure variant" [UniProt]
synonym: "Rett syndrome variant with infantile spasms" [UniProt]
xref: MedGen:C1839333
xref: MeSH:D013036
xref: MIM:300672 "phenotype"
[Term]
id: DI-00473
name: Developmental and epileptic encephalopathy 3
def: "A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. DEE3 is characterized by a very early onset, erratic and fragmentary myoclonus, massive myoclonus, partial motor seizures and late tonic spasms. The prognosis is poor, with no effective treatment, and children with the condition either die within 1 to 2 years after birth or survive in a persistent vegetative state." []
synonym: "Early myoclonic encephalopathy" [UniProt]
synonym: "EIEE3" [UniProt]
synonym: "EME" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 3" [UniProt]
synonym: "Neonatal epilepsy with suppression-burst pattern" [UniProt]
xref: MedGen:C0270855
xref: MeSH:D004831
xref: MeSH:D013036
xref: MIM:609304 "phenotype"
[Term]
id: DI-00474
name: Developmental and epileptic encephalopathy 4
def: "A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Affected individuals have neonatal or infantile onset of seizures, profound intellectual disability, and MRI evidence of brain hypomyelination." []
synonym: "Early myoclonic encephalopathy" [UniProt]
synonym: "EIEE4" [UniProt]
synonym: "EME" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 4" [UniProt]
synonym: "Neonatal epilepsy with suppression-burst pattern" [UniProt]
xref: MedGen:C2677326
xref: MeSH:D013036
xref: MIM:612164 "phenotype"
[Term]
id: DI-00475
name: Episodic ataxia 1
def: "An autosomal dominant disorder characterized by brief episodes of ataxia and dysarthria. Neurological examination during and between the attacks demonstrates spontaneous, repetitive discharges in the distal musculature (myokymia) that arise from peripheral nerve. Nystagmus is absent." []
synonym: "AEMK" [UniProt]
synonym: "EA-1" [UniProt]
synonym: "EAM" [UniProt]
synonym: "Episodic ataxia with myokymia" [UniProt]
synonym: "Paroxysmal ataxia with neuromyotonia" [UniProt]
xref: MedGen:C1719788
xref: MeSH:D020386
xref: MIM:160120 "phenotype"
[Term]
id: DI-00476
name: Episodic ataxia 2
def: "An autosomal dominant disorder characterized by acetozolamide- responsive attacks of ataxia, migraine-like symptoms, interictal nystagmus, and cerebellar atrophy." []
synonym: "Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia" [UniProt]
synonym: "APCA" [UniProt]
synonym: "CAPA" [UniProt]
synonym: "EA-2" [UniProt]
synonym: "Episodic ataxia nystagmus-associated" [UniProt]
synonym: "Episodic ataxia with nystagmus" [UniProt]
synonym: "Hereditary paroxysmal cerebellopathy" [UniProt]
xref: MedGen:C1720416
xref: MeSH:D001259
xref: MIM:108500 "phenotype"
[Term]
id: DI-00477
name: Episodic ataxia 6
def: "A disorder characterized by episodic ataxia, seizures, migraine and alternating hemiplegia." []
synonym: "EA-6" [UniProt]
xref: MedGen:C2675211
xref: MeSH:D001259
xref: MIM:612656 "phenotype"
[Term]
id: DI-00479
name: Erythrocytosis, familial, 1
def: "An autosomal dominant disorder characterized by elevated hemoglobin and hematocrit, hypersensitivity of erythroid progenitors to erythropoietin, erythropoietin low serum levels, and no increase in platelets nor leukocytes. It has a relatively benign course and does not progress to leukemia." []
synonym: "Autosomal dominant benign erythrocytosis" [UniProt]
synonym: "Familial primary polycythemia" [UniProt]
synonym: "PFCP" [UniProt]
xref: MedGen:C1851490
xref: MeSH:D011086
xref: MIM:133100 "phenotype"
[Term]
id: DI-00480
name: Erythrocytosis, familial, 2
def: "An autosomal recessive disorder characterized by an increase in serum red blood cell mass, hypersensitivity of erythroid progenitors to erythropoietin, increased erythropoietin serum levels, and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis and cerebrovascular events." []
synonym: "Autosomal recessive benign erythrocytosis" [UniProt]
synonym: "Polycythemia Chuvash type" [UniProt]
synonym: "VHL-dependent polycythemia" [UniProt]
xref: MedGen:C1837915
xref: MeSH:D011086
xref: MIM:263400 "phenotype"
[Term]
id: DI-00481
name: Erythrocytosis, familial, 3
def: "An autosomal dominant disorder characterized by elevated serum hemoglobin and hematocrit, and normal serum erythropoietin levels." []
xref: MedGen:C1853286
xref: MeSH:D011086
xref: MIM:609820 "phenotype"
[Term]
id: DI-00482
name: Erythrocytosis, familial, 4
def: "An autosomal dominant disorder characterized by elevated serum hemoglobin and hematocrit, and normal platelet and leukocyte counts." []
xref: MedGen:C2673187
xref: MeSH:D011086
xref: MIM:611783 "phenotype"
[Term]
id: DI-00483
name: Erythrokeratodermia variabilis et progressiva 1
def: "A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases." []
synonym: "Congenital familial erythrokeratodermia figurata in plaques" [UniProt]
synonym: "EKV" [UniProt]
synonym: "EKVP" [UniProt]
synonym: "Erythrokeratodermia progressive symmetric" [UniProt]
synonym: "Erythrokeratodermia variabilis" [UniProt]
synonym: "Erythrokeratodermia variabilis et progressiva" [UniProt]
synonym: "Erythrokeratodermia variabilis Mendes da Costa type" [UniProt]
synonym: "Erythrokeratodermia variabilis with erythema gyratum repens" [UniProt]
synonym: "Greither Disease" [UniProt]
synonym: "Keratosis palmoplantaris transgrediens et progrediens" [UniProt]
synonym: "PSEK" [UniProt]
synonym: "Transgrediens et progrediens palmoplantar keratoderma" [UniProt]
xref: MedGen:C0265961
xref: MedGen:C1851479
xref: MedGen:C1851480
xref: MeSH:D056266
xref: MIM:133200 "phenotype"
[Term]
id: DI-00484
name: Protoporphyria, erythropoietic, 1
def: "An autosomal recessive form of porphyria with onset usually before age 10 years. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Erythropoietic protoporphyria is marked by excessive protoporphyrin in erythrocytes, plasma, liver and feces, and by widely varying photosensitive skin changes ranging from a burning or pruritic sensation to erythema, edema and wheals." []
synonym: "EPP" [UniProt]
synonym: "Erythrohepatic protoporphyria" [UniProt]
synonym: "Erythropoietic protoporphyria" [UniProt]
synonym: "Ferrochelatase deficiency" [UniProt]
synonym: "Heme synthetase deficiency" [UniProt]
xref: MedGen:C0162568
xref: MedGen:C0349426
xref: MeSH:D046351
xref: MIM:177000 "phenotype"
[Term]
id: DI-00485
name: Erythropoietic protoporphyria, X-linked dominant
def: "A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. XLDPT is characterized biochemically by a high proportion of zinc- protoporphyrin in erythrocytes, in which a mismatch between protoporphyrin production and the heme requirement of differentiating erythroid cells leads to overproduction of protoporphyrin in amounts sufficient to cause photosensitivity and liver disease." []
xref: MedGen:C2677889
xref: MeSH:D046351
xref: MIM:300752 "phenotype"
[Term]
id: DI-00486
name: Factor V deficiency
def: "A blood coagulation disorder leading to a hemorrhagic diathesis known as parahemophilia." []
synonym: "Factor 5 deficiency" [UniProt]
synonym: "Owren disease" [UniProt]
synonym: "Owren parahemophilia" [UniProt]
synonym: "Parahemophilia" [UniProt]
synonym: "Quebec platelet disorder" [UniProt]
xref: MedGen:C0015499
xref: MeSH:D005166
xref: MIM:227400 "phenotype"
[Term]
id: DI-00487
name: Factor XII deficiency
def: "An asymptomatic anomaly of in vitro blood coagulation. Its diagnosis is based on finding a low plasma activity of the factor in coagulating assays. It is usually only accidentally discovered through pre- operative blood tests. Factor XII deficiency is divided into two categories, a cross-reacting material (CRM)-negative group (negative F12 antigen detection) and a CRM-positive group (positive F12 antigen detection)." []
synonym: "HAF deficiency" [UniProt]
synonym: "Hageman factor deficiency" [UniProt]
xref: MedGen:C0015526
xref: MeSH:D005175
xref: MIM:234000 "phenotype"
[Term]
id: DI-00488
name: Febrile seizures, familial, 3A
def: "Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy." []
synonym: "Familial febrile convulsions 3" [UniProt]
xref: MedGen:C2751756
xref: MeSH:D003294
xref: MIM:604403 "phenotype"
[Term]
id: DI-00489
name: Febrile seizures, familial, 4
def: "Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy." []
synonym: "Familial febrile convulsions 4" [UniProt]
xref: MedGen:C1858493
xref: MeSH:D003294
xref: MIM:604352 "phenotype"
[Term]
id: DI-00490
name: Febrile seizures, familial, 8
def: "Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy." []
synonym: "Familial febrile convulsions 8" [UniProt]
xref: MedGen:C1969810
xref: MeSH:D003294
xref: MIM:607681 "phenotype"
[Term]
id: DI-00491
name: Periodic fever, familial, autosomal dominant
def: "A hereditary periodic fever syndrome characterized by recurrent fever, abdominal pain, localized tender skin lesions and myalgia. Reactive amyloidosis is the main complication and occurs in 25% of cases." []
synonym: "Caledonian fever" [UniProt]
synonym: "Familial hibernian fever" [UniProt]
synonym: "FHF" [UniProt]
synonym: "TNF receptor-associated periodic syndrome" [UniProt]
synonym: "TRAPS" [UniProt]
synonym: "Tumor necrosis factor receptor-associated periodic syndrome" [UniProt]
xref: MedGen:C1275126
xref: MeSH:D056660
xref: MIM:142680 "phenotype"
[Term]
id: DI-00492
name: Hypercholanemia, familial, 1
def: "A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption." []
synonym: "Bile acid, elevated serum" [UniProt]
xref: MedGen:C1843139
xref: MeSH:D008286
xref: MIM:607748 "phenotype"
[Term]
id: DI-00493
name: Tubulointerstitial kidney disease, autosomal dominant, 1
def: "A form of autosomal dominant tubulointerstitial kidney disease, a genetically heterogeneous disorder characterized by slowly progressive loss of kidney function, bland urinary sediment, hyperuricemia, absent or mildly increased albuminuria, lack of severe hypertension during the early stages, and normal or small kidneys on ultrasound. Renal histology shows variable abnormalities including interstitial fibrosis with tubular atrophy, microcystic dilatation of the tubules, thickening of tubular basement membranes, medullary cysts, and secondary glomerulosclerotic or glomerulocystic changes with abnormal glomerular tufting. There is significant variability, as well as incomplete penetrance." []
synonym: "Familial juvenile hyperuricemic nephropathy 1" [UniProt]
synonym: "FJHN" [UniProt]
synonym: "FJHN1" [UniProt]
synonym: "Glomerulocystic kidney disease with hyperuricemia and isosthenuria" [UniProt]
synonym: "Gouty nephropathy familial juvenile" [UniProt]
synonym: "HNFJ1" [UniProt]
synonym: "MCKD2" [UniProt]
synonym: "Medullary cystic kidney disease 2" [UniProt]
synonym: "Nephropathy familial with gout" [UniProt]
xref: MedGen:C0268113
xref: MeSH:D007674
xref: MIM:162000 "phenotype"
[Term]
id: DI-00494
name: Myasthenic syndrome, congenital, 10
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS10 is an autosomal recessive, post-synaptic form characterized by a typical 'limb girdle' pattern of muscle weakness with small, simplified neuromuscular junctions but normal acetylcholine receptor and acetylcholinesterase function." []
synonym: "CMS Ib" [UniProt]
synonym: "CMS1B" [UniProt]
synonym: "Congenital myasthenic syndrome type 1b" [UniProt]
synonym: "Congenital myasthenic syndrome type Ib" [UniProt]
synonym: "LGM" [UniProt]
synonym: "Myasthenia, limb-girdle, familial" [UniProt]
synonym: "Myasthenic myopathy" [UniProt]
xref: MedGen:C1850792
xref: MeSH:D020294
xref: MIM:254300 "phenotype"
[Term]
id: DI-00495
name: Familial Mediterranean fever, autosomal dominant
def: "A hereditary periodic fever syndrome characterized by periodic fever, serosal inflammation and pain in the abdomen, chest or joints as seen also in the autosomal recessive form of the disease. It is associated with reactive renal amyloidosis and characterized by colchicine unresponsiveness." []
xref: MedGen:C1851347
xref: MeSH:D010505
xref: MIM:134610 "phenotype"
[Term]
id: DI-00496
name: Familial Mediterranean fever, autosomal recessive
def: "A hereditary periodic fever syndrome characterized by recurrent episodic fever, serosal inflammation and pain in the abdomen, chest or joints. It is frequently complicated by reactive amyloidosis, which leads to renal failure and can be prophylactically treated with colchicine." []
xref: MedGen:C0031069
xref: MeSH:D010505
xref: MIM:249100 "phenotype"
[Term]
id: DI-00497
name: Familial porphyria cutanea tarda
def: "A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Familial porphyria cutanea tarda is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage." []
synonym: "PCT type II" [UniProt]
synonym: "Porphyria cutanea tarda type II" [UniProt]
synonym: "Porphyria hepatocutaneous type" [UniProt]
synonym: "UROD deficiency" [UniProt]
synonym: "Uroporphyrinogen decarboxylase deficiency" [UniProt]
xref: MedGen:C0268323
xref: MeSH:D017119
xref: MIM:176100 "phenotype"
[Term]
id: DI-00498
name: Familial scaphocephaly syndrome
def: "An autosomal dominant craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, hypertelorism, maxillary retrusion, and mild intellectual disability. Scaphocephaly is the most common of the craniosynostosis conditions and is characterized by a long, narrow head. It is due to premature fusion of the sagittal suture or from external deformation." []
synonym: "Scaphocephaly, maxillary retrusion, and impaired intellectual development" [UniProt]
xref: MedGen:C1865070
xref: MeSH:D003398
xref: MIM:609579 "phenotype"
[Term]
id: DI-00499
name: Fibrodysplasia ossificans progressiva
def: "A rare autosomal dominant connective tissue disorder resulting in skeletal malformations and progressive extraskeletal ossification. Heterotopic ossification begins in childhood and can be induced by trauma or may occur without warning. Bone formation is episodic and progressive, leading to a debilitating ankylosis of all major joints of the axial and appendicular skeleton, rendering movement impossible." []
synonym: "Man of stone" [UniProt]
synonym: "Myositis ossificans" [UniProt]
synonym: "Myositis ossificans progressive" [UniProt]
xref: MedGen:C0016037
xref: MeSH:D009221
xref: MIM:135100 "phenotype"
[Term]
id: DI-00500
name: Fish-eye disease
def: "A disorder of lipoprotein metabolism due to partial lecithin- cholesterol acyltransferase deficiency that affects only alpha-LCAT activity. FED is characterized by low plasma HDL and corneal opacities due to accumulation of cholesterol deposits in the cornea ('fish- eye')." []
synonym: "Alpha-LCAT deficiency" [UniProt]
synonym: "Dyslipoproteinemic corneal dystrophy" [UniProt]
xref: MedGen:C0342895
xref: MeSH:D007863
xref: MIM:136120 "phenotype"
[Term]
id: DI-00501
name: Fucosidosis
def: "An autosomal recessive lysosomal storage disease characterized by accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Clinical signs include facial dysmorphism, dysostosis multiplex, moderate hepatomegaly, severe intellectual deficit, deafness, and according to age, angiokeratomas." []
synonym: "Alpha-L-fucosidase deficiency" [UniProt]
xref: MedGen:C0016788
xref: MeSH:D005645
xref: MIM:230000 "phenotype"
[Term]
id: DI-00502
name: Epidermolysis bullosa, junctional 1A, intermediate
def: "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. Junctional epidermolysis bullosa is characterized by blistering that occurs at the level of the lamina lucida in the skin basement membrane. JEB1A is an autosomal recessive, non-lethal, adult form characterized by life-long blistering of the skin, associated with hair and tooth abnormalities." []
synonym: "Epidermolysis bullosa atrophicans generalisata mitis" [UniProt]
synonym: "Epidermolysis bullosa junctionalis Disentis type" [UniProt]
synonym: "Epidermolysis bullosa junctionalis progressive" [UniProt]
synonym: "Epidermolysis bullosa junctionalis severe non-lethal" [UniProt]
synonym: "GABEB" [UniProt]
synonym: "Generalized atrophic benign epidermolysis bullosa" [UniProt]
synonym: "Generalized junctional epidermolysis bullosa mitis" [UniProt]
synonym: "Non-Herlitz junctional epidermolysis bullosa" [UniProt]
xref: MedGen:C0079297
xref: MedGen:C0079301
xref: MedGen:C0268374
xref: MedGen:C2608084
xref: MedGen:C2673609
xref: MedGen:C2673610
xref: MeSH:D016109
xref: MIM:226650 "phenotype"
[Term]
id: DI-00503
name: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
def: "An autosomal dominant neurologic disorder characterized by absence seizures, generalized tonic-clonic seizures, paroxysmal nonkinesigenic dyskinesia and involuntary dystonic or choreiform movements. Onset is usually in childhood. Patients may have seizures only, dyskinesia only, or both." []
synonym: "Generalized epilepsy and paroxysmal dyskinesia" [UniProt]
synonym: "GEPD" [UniProt]
xref: MedGen:C1836173
xref: MeSH:D002819
xref: MeSH:D004829
xref: MIM:609446 "phenotype"
[Term]
id: DI-00505
name: Generalized epilepsy with febrile seizures plus 1
def: "A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity." []
synonym: "GEFS+ type 1" [UniProt]
xref: MedGen:C1858672
xref: MeSH:D003294
xref: MeSH:D004829
xref: MIM:604233 "phenotype"
[Term]
id: DI-00506
name: Generalized epilepsy with febrile seizures plus 2
def: "A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity." []
synonym: "GEFS+ type 2" [UniProt]
synonym: "GEFS+2" [UniProt]
xref: MedGen:C1858673
xref: MeSH:D003294
xref: MeSH:D004829
xref: MIM:604403 "phenotype"
[Term]
id: DI-00507
name: Generalized epilepsy with febrile seizures plus 3
def: "A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity." []
synonym: "GEFS+ type 3" [UniProt]
synonym: "GEFS+3" [UniProt]
xref: MedGen:C1858674
xref: MeSH:D003294
xref: MeSH:D004829
xref: MIM:607681 "phenotype"
[Term]
id: DI-00508
name: Generalized epilepsy with febrile seizures plus 5
def: "A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity." []
synonym: "GEFS+ type 5" [UniProt]
synonym: "GEFS+5" [UniProt]
xref: MedGen:C3150398
xref: MedGen:C3150399
xref: MedGen:C3150401
xref: MeSH:D003294
xref: MeSH:D004829
xref: MIM:613060 "phenotype"
[Term]
id: DI-00509
name: Geroderma osteodysplasticum
def: "A rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation." []
synonym: "Gerodermia osteodysplastica" [UniProt]
synonym: "Walt Disney dwarfism" [UniProt]
xref: MedGen:C0432255
xref: MeSH:D004392
xref: MeSH:D012873
xref: MIM:231070 "phenotype"
[Term]
id: DI-00510
name: Gitelman syndrome
def: "An autosomal recessive disorder characterized by hypokalemic alkalosis in combination with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. Patients are often asymptomatic or present transient periods of muscular weakness and tetany, usually accompanied by abdominal pain, vomiting and fever. The phenotype is highly heterogeneous in terms of age at onset and severity. Cardinal features such as hypocalciuria and hypomagnesemia might also change during the life cycle of a given patient. It has overlapping features with Bartter syndrome." []
synonym: "Bartter syndrome Gitelman variant" [UniProt]
synonym: "Bartter syndrome hypocalciuric variant" [UniProt]
synonym: "Potassium and magnesium depletion" [UniProt]
synonym: "Primary renotubular hypomagnesemia-hypokalemia with hypocalciuria" [UniProt]
xref: MedGen:C0268450
xref: MedGen:C2930816
xref: MeSH:D053579
xref: MIM:263800 "phenotype"
[Term]
id: DI-00512
name: Glutaric aciduria 1
def: "An autosomal recessive metabolic disorder characterized by progressive dystonia and athetosis due to gliosis and neuronal loss in the basal ganglia." []
synonym: "GA-I" [UniProt]
synonym: "Glutaric acidemia type I" [UniProt]
synonym: "Glutaryl-CoA dehydrogenase deficiency" [UniProt]
xref: MedGen:C0268595
xref: MeSH:D000592
xref: MeSH:D001928
xref: MIM:231670 "phenotype"
[Term]
id: DI-00513
name: Glutaric aciduria 2A
def: "An autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids." []
synonym: "EMA" [UniProt]
synonym: "ETFA deficiency" [UniProt]
synonym: "Ethylmalonic-adipicaciduria" [UniProt]
synonym: "GAIIA" [UniProt]
synonym: "Glutaricaciduria IIA" [UniProt]
synonym: "MADD" [UniProt]
synonym: "Multiple acyl-CoA dehydrogenase deficiency" [UniProt]
xref: MedGen:C1856401
xref: MedGen:C3278154
xref: MeSH:D054069
xref: MIM:231680 "phenotype"
[Term]
id: DI-00514
name: Glutaric aciduria 2B
def: "An autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids." []
synonym: "EMA" [UniProt]
synonym: "ETFB deficiency" [UniProt]
synonym: "Ethylmalonic-adipicaciduria" [UniProt]
synonym: "GAIIB" [UniProt]
synonym: "Glutaricaciduria IIB" [UniProt]
synonym: "MADD" [UniProt]
synonym: "Multiple acyl-CoA dehydrogenase deficiency" [UniProt]
xref: MedGen:C1856403
xref: MedGen:C3278155
xref: MeSH:D054069
xref: MIM:231680 "phenotype"
[Term]
id: DI-00515
name: Glutaric aciduria 2C
def: "An autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids." []
synonym: "EMA" [UniProt]
synonym: "ETFDH deficiency" [UniProt]
synonym: "Ethylmalonic-adipicaciduria" [UniProt]
synonym: "GAIIC" [UniProt]
synonym: "Glutaricaciduria IIC" [UniProt]
synonym: "MADD" [UniProt]
synonym: "Multiple acyl-CoA dehydrogenase deficiency" [UniProt]
xref: MedGen:C1856405
xref: MedGen:C3278156
xref: MeSH:D054069
xref: MIM:231680 "phenotype"
[Term]
id: DI-00516
name: Glutaric aciduria 3
def: "A metabolic disorder due to peroxisomal glutaryl-CoA oxidase deficiency and characterized by the excretion of abnormal quantities of glutaric acid but low 3-hydroxyglutaric acid." []
synonym: "GA III" [UniProt]
synonym: "Glutaryl-CoA oxidase deficiency" [UniProt]
xref: MedGen:C0342873
xref: MeSH:D000592
xref: MIM:231690 "phenotype"
[Term]
id: DI-00517
name: Glycogen storage disease 0
def: "A metabolic disorder characterized by fasting hypoglycemia presenting in infancy or early childhood, high blood ketones and low alanine and lactate concentrations. Although feeding relieves symptoms, it often results in postprandial hyperglycemia and hyperlactatemia." []
synonym: "Hypoglycemia with deficiency of glycogen synthetase in the liver" [UniProt]
synonym: "Liver glycogen synthase deficiency" [UniProt]
xref: MedGen:C1855861
xref: MeSH:D006008
xref: MIM:240600 "phenotype"
[Term]
id: DI-00518
name: Glycogen storage disease 1A
def: "A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia." []
synonym: "Glucose-6-phosphatase deficiency" [UniProt]
synonym: "Glycogen storage disease Ia" [UniProt]
synonym: "GSD-Ia" [UniProt]
synonym: "Hepatorenal form of glycogen storage disease" [UniProt]
synonym: "Hepatorenal glycogenosis" [UniProt]
synonym: "von Gierke disease" [UniProt]
xref: MedGen:C0017920
xref: MedGen:CN069618
xref: MeSH:D005953
xref: MIM:232200 "phenotype"
[Term]
id: DI-00519
name: Glycogen storage disease 1B
def: "A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. Glycogen storage disease type 1B patients also present a tendency towards infections associated with neutropenia, relapsing aphthous gingivostomatitis, and inflammatory bowel disease." []
synonym: "Glucose-6-phosphate transport defect" [UniProt]
synonym: "Glycogen storage disease Ib" [UniProt]
synonym: "GSD Ib" [UniProt]
synonym: "GSD-Ib" [UniProt]
xref: MedGen:C0268146
xref: MeSH:D005953
xref: MIM:232220 "phenotype"
[Term]
id: DI-00520
name: Glycogen storage disease 1C
def: "A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia." []
synonym: "Glycogen storage disease Ic" [UniProt]
synonym: "GSD-Ic" [UniProt]
xref: MedGen:C0342749
xref: MeSH:D005953
xref: MIM:232240 "phenotype"
[Term]
id: DI-00521
name: Glycogen storage disease 1D
def: "A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia." []
synonym: "Glycogen storage disease Id" [UniProt]
synonym: "GSD-Id" [UniProt]
xref: MedGen:C0342750
xref: MeSH:D005953
xref: MIM:232240 "phenotype"
[Term]
id: DI-00522
name: Pompe disease
def: "An autosomal recessive metabolic disorder with a broad clinical spectrum. The severe infantile form presents at birth with massive accumulation of glycogen in muscle, heart and liver. Cardiomyopathy and muscular hypotonia are the cardinal features of this form whose life expectancy is less than two years. The juvenile and adult forms present as limb-girdle muscular dystrophy beginning in the lower limbs. Final outcome depends on respiratory muscle failure. Patients with the adult form can be free of clinical symptoms for most of their life but finally develop a slowly progressive myopathy." []
synonym: "Acid alpha-glucosidase deficiency" [UniProt]
synonym: "Acid maltase deficiency" [UniProt]
synonym: "Alpha-1,4-glucosidase deficiency" [UniProt]
synonym: "AMD" [UniProt]
synonym: "Cardiomegalia glycogenica" [UniProt]
synonym: "GAA deficiency" [UniProt]
synonym: "Glycogen storage disease 2" [UniProt]
synonym: "Glycogen storage disease II" [UniProt]
synonym: "Glycogenosis generalized cardiac form" [UniProt]
synonym: "Glycogenosis II" [UniProt]
synonym: "GSD II" [UniProt]
synonym: "GSD-II" [UniProt]
synonym: "GSD2" [UniProt]
xref: MedGen:C0017921
xref: MedGen:C0751173
xref: MedGen:C2931347
xref: MeSH:D006009
xref: MIM:232300 "phenotype"
[Term]
id: DI-00523
name: Glycogen storage disease 3
def: "A metabolic disorder associated with an accumulation of abnormal glycogen with short outer chains. It is clinically characterized by hepatomegaly, hypoglycemia, short stature, and variable myopathy. Glycogen storage disease type 3 includes different forms: GSD type 3A patients lack glycogen debrancher enzyme activity in both liver and muscle, while GSD type 3B patients are enzyme-deficient in liver only. In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in GSD type 3C or type 3D, respectively." []
synonym: "AGL deficiency" [UniProt]
synonym: "Amylo-1,6-glucosidase deficiency" [UniProt]
synonym: "Cori disease" [UniProt]
synonym: "Forbes disease" [UniProt]
synonym: "GDE deficiency" [UniProt]
synonym: "Glycogen debranching enzyme deficiency" [UniProt]
synonym: "Glycogen storage disease III" [UniProt]
synonym: "Glycogen storage disease IIIa" [UniProt]
synonym: "Glycogen storage disease IIIb" [UniProt]
synonym: "Glycogen storage disease IIIc" [UniProt]
synonym: "Glycogen storage disease IIId" [UniProt]
synonym: "GSD IIIa" [UniProt]
synonym: "GSD IIIb" [UniProt]
synonym: "GSD IIIc" [UniProt]
synonym: "GSD IIId" [UniProt]
synonym: "GSD-III" [UniProt]
xref: MedGen:C0017922
xref: MedGen:C1968739
xref: MedGen:C1968740
xref: MedGen:C1968741
xref: MedGen:C1968742
xref: MeSH:D006010
xref: MIM:232400 "phenotype"
[Term]
id: DI-00524
name: Glycogen storage disease 4
def: "A metabolic disorder characterized by the accumulation of an amylopectin-like polysaccharide. The typical clinical manifestation is liver disease of childhood, progressing to lethal hepatic cirrhosis. Most children with this condition die before two years of age. However, the liver disease is not always progressive. No treatment apart from liver transplantation has been found to prevent progression of the disease. There is also a neuromuscular form of glycogen storage disease type 4 that varies in onset (perinatal, congenital, juvenile, or adult) and severity." []
synonym: "Amylopectinosis" [UniProt]
synonym: "Andersen disease" [UniProt]
synonym: "GBE1 deficiency" [UniProt]
synonym: "Glycogen branching enzyme deficiency" [UniProt]
synonym: "Glycogen storage disease IV" [UniProt]
synonym: "Glycogenosis IV" [UniProt]
synonym: "GSD IV" [UniProt]
synonym: "GSD-IV" [UniProt]
xref: MedGen:C0017923
xref: MedGen:C1856301
xref: MedGen:C1856302
xref: MedGen:C1856303
xref: MedGen:C1856304
xref: MedGen:C1856305
xref: MedGen:C1856306
xref: MedGen:CN068577
xref: MedGen:CN068579
xref: MedGen:CN068580
xref: MedGen:CN068581
xref: MedGen:CN068582
xref: MeSH:D006011
xref: MIM:232500 "phenotype"
[Term]
id: DI-00525
name: Glycogen storage disease 5
def: "A metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria." []
synonym: "Glycogen storage disease V" [UniProt]
synonym: "GSD V" [UniProt]
synonym: "GSD-V" [UniProt]
synonym: "McArdle disease" [UniProt]
synonym: "Myophosphorylase deficiency" [UniProt]
xref: MedGen:C0017924
xref: MeSH:D006012
xref: MIM:232600 "phenotype"
[Term]
id: DI-00526
name: Glycogen storage disease 6
def: "A metabolic disorder characterized by mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly. Heart and skeletal muscle are not affected." []
synonym: "Glycogen storage disease VI" [UniProt]
synonym: "Glycogen storage disease VIb" [UniProt]
synonym: "GSD-VI" [UniProt]
synonym: "Hers disease" [UniProt]
synonym: "Liver phosphorylase deficiency" [UniProt]
xref: MedGen:C0017925
xref: MeSH:D006013
xref: MIM:232700 "phenotype"
[Term]
id: DI-00527
name: Glycogen storage disease 7
def: "A metabolic disorder characterized by exercise intolerance with associated nausea and vomiting, muscle cramping, exertional myopathy and compensated hemolysis. Short bursts of intense activity are particularly difficult. Severe muscle cramps and myoglobinuria develop after vigorous exercise." []
synonym: "Glycogen storage disease VII" [UniProt]
synonym: "GSD VII" [UniProt]
synonym: "GSD-VII" [UniProt]
synonym: "Muscle phosphofructokinase deficiency" [UniProt]
synonym: "PFKM deficiency" [UniProt]
synonym: "Tarui disease" [UniProt]
xref: MedGen:C0017926
xref: MeSH:D006014
xref: MIM:232800 "phenotype"
[Term]
id: DI-00528
name: Glycogen storage disease 9A
def: "A metabolic disorder resulting in a mild liver glycogenosis with clinical symptoms that include hepatomegaly, growth retardation, muscle weakness, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis. Two subtypes are known: type 1 or classic type with no phosphorylase kinase activity in liver or erythrocytes, and type 2 or variant type with no phosphorylase kinase activity in liver, but normal activity in erythrocytes. Unlike other glycogenosis diseases, glycogen storage disease type 9A is generally a benign condition. Patients improve with age and are often asymptomatic as adults. Accurate diagnosis is therefore also of prognostic interest." []
synonym: "Glycogen storage disease IXa" [UniProt]
synonym: "Glycogen storage disease IXa1" [UniProt]
synonym: "Glycogen storage disease IXa2" [UniProt]
synonym: "Glycogen storage disease VIa" [UniProt]
synonym: "Glycogen storage disease VIII" [UniProt]
synonym: "GSD-IXa" [UniProt]
synonym: "GSD-VIa" [UniProt]
synonym: "GSD-VIII" [UniProt]
synonym: "GSD9A1" [UniProt]
synonym: "GSD9A2" [UniProt]
synonym: "Hepatic phosphorylase kinase deficiency" [UniProt]
synonym: "X-linked liver glycogenosis" [UniProt]
synonym: "X-linked liver glycogenosis type I" [UniProt]
synonym: "X-linked liver glycogenosis type II" [UniProt]
synonym: "XLG" [UniProt]
xref: MedGen:C0017927
xref: MedGen:C1844412
xref: MedGen:C2748941
xref: MeSH:D006008
xref: MIM:306000 "phenotype"
[Term]
id: DI-00529
name: Glycogen storage disease 9B
def: "A metabolic disorder characterized by hepatomegaly, only slightly elevated transaminases and plasma lipids, clinical improvement with increasing age, and remarkably no clinical muscle involvement. Biochemical observations suggest that this mild phenotype is caused by an incomplete holoenzyme that lacks the beta subunit, but that may possess residual activity." []
synonym: "Glycogen storage disease IXb" [UniProt]
synonym: "GSD-IXb" [UniProt]
synonym: "Phosphorylase kinase deficiency of liver and muscle" [UniProt]
xref: MedGen:C0543514
xref: MedGen:C1849812
xref: MeSH:D006008
xref: MIM:261750 "phenotype"
[Term]
id: DI-00530
name: Glycogen storage disease 9C
def: "A metabolic disorder manifesting in infancy with hepatomegaly, growth retardation, hypotonia, liver dysfunction, and elevated plasma aminotransferases and lipids. These symptoms improve with age in most cases; however, some patients may develop hepatic fibrosis or cirrhosis." []
synonym: "ALG" [UniProt]
synonym: "Autosomal liver glycogenosis" [UniProt]
synonym: "Glycogen storage disease IXc" [UniProt]
synonym: "GSD-IXc" [UniProt]
xref: MedGen:C2751643
xref: MeSH:D006008
xref: MIM:613027 "phenotype"
[Term]
id: DI-00531
name: Glycogen storage disease 9D
def: "A metabolic disorder characterized by slowly progressive, predominantly distal muscle weakness and atrophy. Clinical features include exercise intolerance with early fatigability, pain, cramps and occasionally myoglobinuria." []
synonym: "Glycogen storage disease IXd" [UniProt]
synonym: "GSD IXd" [UniProt]
synonym: "Muscle phosphorylase kinase deficiency" [UniProt]
synonym: "X-linked muscle glycogenosis" [UniProt]
xref: MedGen:C1845151
xref: MeSH:D006008
xref: MIM:300559 "phenotype"
[Term]
id: DI-00532
name: GM1-gangliosidosis 1
def: "An autosomal recessive lysosomal storage disease marked by the accumulation of GM1 gangliosides, glycoproteins and keratan sulfate primarily in neurons of the central nervous system. GM1-gangliosidosis type 1 is characterized by onset within the first three months of life, central nervous system degeneration, coarse facial features, hepatosplenomegaly, skeletal dysmorphology reminiscent of Hurler syndrome, and rapidly progressive psychomotor deterioration. Urinary oligosaccharide levels are high. It leads to death usually between the first and second year of life." []
synonym: "Beta-galactosidase-1 deficiency" [UniProt]
synonym: "Gangliosidosis generalized GM1 infantile type" [UniProt]
synonym: "Gangliosidosis generalized GM1 type 1" [UniProt]
synonym: "GLB1 deficiency" [UniProt]
synonym: "GM1-gangliosidosis infantile" [UniProt]
xref: MedGen:C0085131
xref: MedGen:C0268271
xref: MedGen:C1968747
xref: MedGen:C1968748
xref: MeSH:D016537
xref: MIM:230500 "phenotype"
[Term]
id: DI-00533
name: GM1-gangliosidosis 2
def: "A gangliosidosis characterized by onset between ages 1 and 5. The main symptom is locomotor ataxia, ultimately leading to a state of decerebration with epileptic seizures. Patients do not display the skeletal changes associated with the infantile form, but they nonetheless excrete elevated amounts of beta-linked galactose-terminal oligosaccharides. Inheritance is autosomal recessive." []
synonym: "Gangliosidosis generalized GM1 late infantile type" [UniProt]
synonym: "Gangliosidosis generalized GM1 type 2" [UniProt]
synonym: "GM1-gangliosidosis generalized juvenile type" [UniProt]
xref: MedGen:C0268272
xref: MedGen:C1968746
xref: MeSH:D016537
xref: MIM:230600 "phenotype"
[Term]
id: DI-00534
name: GM1-gangliosidosis 3
def: "A gangliosidosis with a variable phenotype. Patients show mild skeletal abnormalities, dysarthria, gait disturbance, dystonia and visual impairment. Visceromegaly is absent. Intellectual deficit can initially be mild or absent but progresses over time. Inheritance is autosomal recessive." []
synonym: "Gangliosidosis generalized GM1 chronic type" [UniProt]
synonym: "Gangliosidosis generalized GM1 type 3" [UniProt]
synonym: "GM1-gangliosidosis generalized adult type" [UniProt]
xref: MedGen:C0268273
xref: MeSH:D016537
xref: MIM:230650 "phenotype"
[Term]
id: DI-00535
name: GM2-gangliosidosis AB
def: "An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the presence of both normal hexosaminidase A and B." []
synonym: "GM2 activator deficiency" [UniProt]
synonym: "GM2-gangliosidosis AB variant" [UniProt]
synonym: "Hexosaminidase activator deficiency" [UniProt]
synonym: "Tay-Sachs disease AB variant" [UniProt]
xref: MedGen:C0268275
xref: MeSH:D049290
xref: MIM:272750 "phenotype"
[Term]
id: DI-00536
name: GM2-gangliosidosis 1
def: "An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form, death in early childhood. It exists in several forms: infantile (most common and most severe), juvenile and adult (late-onset)." []
synonym: "GM2-gangliosidosis B variant" [UniProt]
synonym: "HEXA deficiency" [UniProt]
synonym: "Hexosaminidase A deficiency" [UniProt]
synonym: "Tay-Sachs disease" [UniProt]
synonym: "Tay-Sachs disease pseudo-AB variant" [UniProt]
synonym: "Tay-Sachs disease variant B1" [UniProt]
synonym: "TSD" [UniProt]
xref: MedGen:C0039373
xref: MedGen:C1848913
xref: MedGen:C1848914
xref: MedGen:C1848915
xref: MedGen:C1848916
xref: MedGen:C1848917
xref: MedGen:C2749283
xref: MedGen:CN068770
xref: MedGen:CN068776
xref: MeSH:D013661
xref: MIM:272800 "phenotype"
[Term]
id: DI-00537
name: GM2-gangliosidosis 2
def: "An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. Clinically indistinguishable from GM2-gangliosidosis type 1, presenting startle reactions, early blindness, progressive motor and mental deterioration, macrocephaly and cherry-red spots on the macula." []
synonym: "Hexosaminidase A and B deficiency" [UniProt]
synonym: "Sandhoff disease" [UniProt]
synonym: "SD" [UniProt]
xref: MedGen:C0036161
xref: MedGen:C1849320
xref: MedGen:C1849321
xref: MedGen:C1849322
xref: MedGen:CN068767
xref: MeSH:D012497
xref: MIM:268800 "phenotype"
[Term]
id: DI-00538
name: Hyperphenylalaninemia, BH4-deficient, B
def: "A disease characterized by malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency, and defective neurotransmission due to depletion of the neurotransmitters dopamine and serotonin. The principal symptoms include: psychomotor retardation, tonicity disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing. Some patients may present a phenotype of intermediate severity between severe hyperphenylalaninemia and mild dystonia. In this intermediate phenotype, there is marked motor delay, but no intellectual disability and only minimal, if any, hyperphenylalaninemia." []
synonym: "Atypical severe phenylketonuria due to GTP cyclohydrolase I deficiency" [UniProt]
synonym: "GCH1 deficiency" [UniProt]
synonym: "Guanosine triphosphate cyclohydrolase I deficiency" [UniProt]
synonym: "Hyperphenylalaninemia with neopterin deficiency" [UniProt]
xref: MedGen:C0268467
xref: MeSH:D010661
xref: MIM:233910 "phenotype"
[Term]
id: DI-00539
name: Haim-Munk syndrome
def: "An autosomal recessive disorder characterized by palmoplantar keratosis, onychogryphosis and periodontitis. Additional features are pes planus, arachnodactyly, and acroosteolysis." []
synonym: "Cochin Jewish disorder" [UniProt]
synonym: "Keratosis palmoplantaris with periodontopathia and onychogryposis" [UniProt]
xref: MedGen:C1855627
xref: MeSH:D007645
xref: MIM:245010 "phenotype"
[Term]
id: DI-00540
name: Hawkinsinuria
def: "An inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin, in the urine." []
synonym: "4-alpha-hydroxyphenylpyruvate hydroxylase deficiency" [UniProt]
synonym: "4-HPPD deficiency" [UniProt]
synonym: "4-hydroxyphenylpyruvic acid dioxygenase deficiency" [UniProt]
xref: MedGen:C2931042
xref: MeSH:D020176
xref: MIM:140350 "phenotype"
[Term]
id: DI-00541
name: Thrombophilia due to heparin cofactor 2 deficiency
def: "A hemostatic disorder characterized by a tendency to recurrent thrombosis." []
synonym: "Heparin cofactor II deficiency" [UniProt]
xref: MedGen:C0398626
xref: MeSH:D019851
xref: MIM:612356 "phenotype"
[Term]
id: DI-00542
name: Hepatoerythropoietic porphyria
def: "A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. HEP is a cutaneous porphyria that presents in infancy. It is characterized biochemically by excessive excretion of acetate-substituted porphyrins and accumulation of protoporphyrin in erythrocytes. Uroporphyrinogen decarboxylase levels are very low in erythrocytes and cultured skin fibroblasts." []
xref: MedGen:C0162569
xref: MeSH:D017121
xref: MIM:176100 "phenotype"
[Term]
id: DI-00543
name: Angioedema, hereditary, 1
def: "An autosomal dominant disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. Hereditary angioedema due to C1 esterase inhibitor deficiency is comprised of two clinically indistinguishable forms. In hereditary angioedema type 1, serum levels of C1 esterase inhibitor are decreased, while in type 2, the levels are normal or elevated, but the protein is non-functional." []
synonym: "C1 esterase inhibitor deficiency" [UniProt]
synonym: "HANE" [UniProt]
synonym: "Hereditary angioneurotic edema" [UniProt]
xref: MedGen:C0019243
xref: MedGen:C1862892
xref: MedGen:C2717906
xref: MeSH:D054179
xref: MIM:106100 "phenotype"
[Term]
id: DI-00544
name: Angioedema, hereditary, 3
def: "A hereditary angioedema occurring only in women. Hereditary angioedema is an autosomal dominant disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. Hereditary angioedema type 3 differs from types 1 and 2 in that both concentration and function of C1 esterase inhibitor are normal. Hereditary angioedema type 3 is precipitated or worsened by high estrogen levels (e.g., during pregnancy or treatment with oral contraceptives)." []
synonym: "Angioedema, hereditary, type III" [UniProt]
synonym: "Angioneurotic edema hereditary with normal C1 inhibitor concentration and function" [UniProt]
synonym: "Estrogen-related HAE" [UniProt]
synonym: "Estrogen-sensitive HAE" [UniProt]
synonym: "HAE with normal C1 inhibitor concentration and function" [UniProt]
synonym: "Hereditary angioedema with normal C1 inhibitor activity" [UniProt]
xref: MedGen:C1857728
xref: MeSH:D056828
xref: MIM:610618 "phenotype"
[Term]
id: DI-00545
name: Hereditary coproporphyria
def: "A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Hereditary coproporphyria is an acute hepatic porphyria characterized by skin photosensitivity, attacks of abdominal pain, neurological disturbances, and psychiatric symptoms. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. Hereditary coproporphyria is biochemically characterized by overexcretion of coproporphyrin III in the urine and in the feces." []
synonym: "Coproporphyrinogen oxidase deficiency" [UniProt]
synonym: "CPO deficiency" [UniProt]
synonym: "CPOX deficiency" [UniProt]
synonym: "CPRO deficiency" [UniProt]
xref: MedGen:C0162531
xref: MedGen:C0342859
xref: MeSH:D046349
xref: MIM:121300 "phenotype"
[Term]
id: DI-00546
name: Hereditary neuropathy with liability to pressure palsies
def: "A neurologic disorder characterized by transient episodes of decreased perception or peripheral nerve palsies after slight traction, compression or minor traumas." []
synonym: "Familial recurrent polyneuropathy" [UniProt]
synonym: "Tomaculous neuropathy" [UniProt]
xref: MedGen:C0393814
xref: MeSH:D011115
xref: MIM:162500 "phenotype"
[Term]
id: DI-00547
name: Neuropathy, hereditary sensory and autonomic, 1A
def: "A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by prominent sensory abnormalities with a variable degree of motor and autonomic dysfunction. The neurological phenotype is often complicated by severe infections, osteomyelitis, and amputations. HSAN1A is an autosomal dominant axonal form with onset in the second or third decades. Initial symptoms are loss of pain, touch, heat, and cold sensation over the feet, followed by distal muscle wasting and weakness. Loss of pain sensation leads to chronic skin ulcers and distal amputations." []
synonym: "Hereditary sensory neuropathy type IA" [UniProt]
synonym: "Hereditary sensory radicular neuropathy autosomal dominant type 1A" [UniProt]
synonym: "HSAN IA" [UniProt]
synonym: "HSAN1" [UniProt]
synonym: "HSN IA" [UniProt]
synonym: "HSN1" [UniProt]
xref: MedGen:C0020071
xref: MedGen:C3149656
xref: MeSH:D009477
xref: MIM:162400 "phenotype"
[Term]
id: DI-00548
name: Neuropathy, hereditary sensory and autonomic, 2A
def: "A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN2A is an autosomal recessive disorder characterized by impairment of pain, temperature and touch sensation, onset of symptoms in infancy or early childhood, occurrence of distal extremity pathologies (paronychia, whitlows, ulcers, and Charcot joints), frequent amputations, sensory loss that affects all modalities of sensation (lower and upper limbs and perhaps the trunk as well), absence or diminution of tendon reflexes (usually in all limbs), minimal autonomic dysfunction, absence of sensory nerve action potentials, and virtual absence of myelinated fibers with decreased numbers of unmyelinated fibers in sural nerves." []
synonym: "Acroosteolysis Giaccai type" [UniProt]
synonym: "Congenital sensory neuropathy" [UniProt]
synonym: "Hereditary sensory and autonomic neuropathy type IIA" [UniProt]
synonym: "Hereditary sensory neuropathy type IIA" [UniProt]
synonym: "Hereditary sensory radicular neuropathy autosomal recessive" [UniProt]
synonym: "HSAN IIA" [UniProt]
synonym: "HSN IIA" [UniProt]
synonym: "HSN2A" [UniProt]
synonym: "Morvan disease" [UniProt]
synonym: "Neurogenic acroosteolysis" [UniProt]
synonym: "Progressive sensory neuropathy of children" [UniProt]
xref: MedGen:C0020072
xref: MedGen:C0699739
xref: MedGen:C0751540
xref: MeSH:D009477
xref: MIM:201300 "phenotype"
[Term]
id: DI-00549
name: Neuropathy, hereditary sensory and autonomic, 5
def: "A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN5 patients manifest loss of pain perception and impaired temperature sensitivity, ulcers, and in some cases self-mutilation. The autonomic involvement is variable." []
synonym: "Congenital insensitivity to pain" [UniProt]
synonym: "Hereditary sensory neuropathy type V" [UniProt]
synonym: "HSAN V" [UniProt]
synonym: "HSN V" [UniProt]
xref: MedGen:C0020075
xref: MeSH:D000699
xref: MeSH:D009477
xref: MIM:608654 "phenotype"
[Term]
id: DI-00550
name: Lynch syndrome 1
def: "A form of Lynch syndrome, an autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. Lynch syndrome is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, it is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical Lynch syndrome is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected Lynch syndrome' or 'incomplete Lynch syndrome' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected." []
synonym: "Hereditary non-polyposis colorectal cancer 1" [UniProt]
synonym: "HNPCC1" [UniProt]
synonym: "Lynch cancer family syndrome" [UniProt]
synonym: "Lynch syndrome" [UniProt]
synonym: "Lynch syndrome type I" [UniProt]
synonym: "Lynch syndrome type II" [UniProt]
xref: MedGen:C0009405
xref: MedGen:C1333990
xref: MedGen:CN068508
xref: MeSH:D003123
xref: MIM:120435 "phenotype"
[Term]
id: DI-00551
name: Lynch syndrome 2
def: "A form of Lynch syndrome, an autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. Lynch syndrome is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, it is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical Lynch syndrome is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected Lynch syndrome' or 'incomplete Lynch syndrome' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected." []
synonym: "Hereditary non-polyposis colorectal cancer 2" [UniProt]
synonym: "HNPCC2" [UniProt]
xref: MedGen:C1333991
xref: MeSH:D003123
xref: MIM:609310 "phenotype"
[Term]
id: DI-00553
name: Lynch syndrome 4
def: "A form of Lynch syndrome, an autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. Lynch syndrome is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, it is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical Lynch syndrome is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected Lynch syndrome' or 'incomplete Lynch syndrome' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected." []
synonym: "Hereditary non-polyposis colorectal cancer 4" [UniProt]
synonym: "HNPCC4" [UniProt]
xref: MedGen:C1838333
xref: MeSH:D003123
xref: MIM:614337 "phenotype"
[Term]
id: DI-00554
name: Lynch syndrome 5
def: "A form of Lynch syndrome, an autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. Lynch syndrome is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, it is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical Lynch syndrome is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected Lynch syndrome' or 'incomplete Lynch syndrome' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected." []
synonym: "Hereditary non-polyposis colorectal cancer 5" [UniProt]
synonym: "HNPCC5" [UniProt]
xref: MedGen:C1833477
xref: MeSH:D003123
xref: MIM:614350 "phenotype"
[Term]
id: DI-00555
name: Hereditary non-polyposis colorectal cancer 6
def: "An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra- colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected." []
xref: MedGen:C1860896
xref: MeSH:D003123
xref: MIM:614331 "phenotype"
[Term]
id: DI-00556
name: Hereditary non-polyposis colorectal cancer 7
def: "An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra- colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected." []
xref: MedGen:C1858380
xref: MeSH:D003123
xref: MIM:614385 "phenotype"
[Term]
id: DI-00557
name: Hermansky-Pudlak syndrome 1
def: "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS." []
synonym: "Albinism with hemorrhagic diathesis and pigmented reticuloendothelial" [UniProt]
synonym: "Delta storage pool disease" [UniProt]
xref: MedGen:C0079504
xref: MedGen:C2931875
xref: MeSH:D022861
xref: MIM:203300 "phenotype"
[Term]
id: DI-00558
name: Hermansky-Pudlak syndrome 2
def: "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS2 differs from the other forms of HPS in that it includes immunodeficiency in its phenotype and patients with HPS2 have an increased susceptibility to infections." []
synonym: "Albinism with hemorrhagic diathesis and pigmented reticuloendothelial" [UniProt]
synonym: "Delta storage pool disease" [UniProt]
xref: MedGen:C1842362
xref: MeSH:D022861
xref: MIM:608233 "phenotype"
[Term]
id: DI-00559
name: Hermansky-Pudlak syndrome 3
def: "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS." []
synonym: "Albinism with hemorrhagic diathesis and pigmented reticuloendothelial" [UniProt]
synonym: "Delta storage pool disease" [UniProt]
xref: MedGen:CN068829
xref: MeSH:D022861
xref: MIM:614072 "phenotype"
[Term]
id: DI-00560
name: Hermansky-Pudlak syndrome 4
def: "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS." []
synonym: "Albinism with hemorrhagic diathesis and pigmented reticuloendothelial" [UniProt]
synonym: "Delta storage pool disease" [UniProt]
xref: MedGen:C3484357
xref: MeSH:D022861
xref: MIM:614073 "phenotype"
[Term]
id: DI-00561
name: Hermansky-Pudlak syndrome 5
def: "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS." []
synonym: "Albinism with hemorrhagic diathesis and pigmented reticuloendothelial" [UniProt]
synonym: "Delta storage pool disease" [UniProt]
xref: MedGen:CN068618
xref: MeSH:D022861
xref: MIM:614074 "phenotype"
[Term]
id: DI-00562
name: Hermansky-Pudlak syndrome 6
def: "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS." []
synonym: "Albinism with hemorrhagic diathesis and pigmented reticuloendothelial" [UniProt]
synonym: "Delta storage pool disease" [UniProt]
xref: MedGen:CN068617
xref: MeSH:D022861
xref: MIM:614075 "phenotype"
[Term]
id: DI-00563
name: Hermansky-Pudlak syndrome 7
def: "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS." []
synonym: "Albinism with hemorrhagic diathesis and pigmented reticuloendothelial" [UniProt]
synonym: "Delta storage pool disease" [UniProt]
xref: MedGen:C3279756
xref: MeSH:D022861
xref: MIM:614076 "phenotype"
[Term]
id: DI-00564
name: Hermansky-Pudlak syndrome 8
def: "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS." []
synonym: "Albinism with hemorrhagic diathesis and pigmented reticuloendothelial" [UniProt]
synonym: "Delta storage pool disease" [UniProt]
xref: MedGen:CN068492
xref: MedGen:CN201510
xref: MeSH:D022861
xref: MIM:614077 "phenotype"
[Term]
id: DI-00565
name: Holocarboxylase synthetase deficiency
def: "A neonatal form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. In holocarboxylase synthetase deficiency, clinical and biochemical symptoms improve dramatically with administration of biotin." []
synonym: "Biotin-responsive MCD" [UniProt]
synonym: "Biotin-responsive multiple carboxylase deficiency" [UniProt]
synonym: "Early-onset MCD" [UniProt]
synonym: "Early-onset multiple carboxylase deficiency" [UniProt]
synonym: "MCD neonatal form" [UniProt]
xref: MedGen:C0268581
xref: MeSH:D028922
xref: MIM:253270 "phenotype"
[Term]
id: DI-00566
name: Holoprosencephaly 2
def: "A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability." []
synonym: "Holoprosencephaly-2" [UniProt]
xref: MedGen:C1834877
xref: MeSH:D016142
xref: MIM:157170 "phenotype"
[Term]
id: DI-00567
name: Holoprosencephaly 3
def: "A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. The majority of holoprosencephaly type 3 cases are apparently sporadic, although clear examples of autosomal dominant inheritance have been described." []
synonym: "Holoprosencephaly-3" [UniProt]
xref: MedGen:C1840529
xref: MeSH:D016142
xref: MIM:142945 "phenotype"
[Term]
id: DI-00568
name: Holoprosencephaly 4
def: "A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability." []
synonym: "Holoprosencephaly-4" [UniProt]
xref: MedGen:C1840528
xref: MeSH:D016142
xref: MIM:142946 "phenotype"
[Term]
id: DI-00569
name: Holoprosencephaly 5
def: "A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability." []
synonym: "Holoprosencephaly-5" [UniProt]
xref: MedGen:C1864827
xref: MeSH:D016142
xref: MIM:609637 "phenotype"
[Term]
id: DI-00570
name: Holoprosencephaly 7
def: "A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability." []
synonym: "Holoprosencephaly-7" [UniProt]
xref: MedGen:C1835820
xref: MeSH:D016142
xref: MIM:610828 "phenotype"
[Term]
id: DI-00571
name: Holoprosencephaly 9
def: "A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. Holoprosencephaly type 9 is characterized by defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and holoprosencephaly-like midfacial hypoplasia." []
synonym: "Holoprosencephaly-9" [UniProt]
synonym: "Pituitary anomalies with holoprosencephaly-like features" [UniProt]
xref: MedGen:C1835819
xref: MeSH:D016142
xref: MIM:610829 "phenotype"
[Term]
id: DI-00572
name: Hoyeraal-Hreidarsson syndrome
def: "A clinically severe variant of dyskeratosis congenita that is characterized by multisystem involvement, early onset in utero, and often results in death in childhood. Affected individuals show intrauterine growth retardation, microcephaly, cerebellar hypoplasia, delayed development, and bone marrow failure resulting in immunodeficiency." []
synonym: "Cerebellar hypoplasia with pancytopenia" [UniProt]
synonym: "Prenatal growth retardation with progressive pancytopenia and cerebellar hypoplasia" [UniProt]
xref: MedGen:C1846142
xref: MeSH:D005317
xref: MeSH:D008607
xref: MeSH:D008831
xref: MeSH:D019871
xref: MIM:305000 "phenotype"
[Term]
id: DI-00573
name: Tumoral calcinosis, hyperphosphatemic, familial, 1
def: "A form of hyperphosphatemic tumoral calcinosis, a rare autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients have recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement." []
synonym: "Cortical hyperostosis with hyperphosphatemia" [UniProt]
synonym: "Familial tumoral calcinosis with hyperphosphatemia" [UniProt]
synonym: "HHS" [UniProt]
synonym: "Hyperostosis with hyperphosphatemia" [UniProt]
synonym: "Hyperostosis-hyperphosphatemia syndrome" [UniProt]
synonym: "Lipocalcinogranulomatosis" [UniProt]
synonym: "Morbus Teutschlaender" [UniProt]
synonym: "PHPTC" [UniProt]
synonym: "Teutschlaender disease" [UniProt]
synonym: "Tumoral calcinosis primary hyperphosphatemic" [UniProt]
xref: MedGen:C1876187
xref: MeSH:D002114
xref: MeSH:D015576
xref: MeSH:D054559
xref: MIM:211900 "phenotype"
[Term]
id: DI-00574
name: Hypophosphatemic rickets, X-linked recessive
def: "A renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. XLHRR patients present with rickets or osteomalacia, hypophosphatemia due to decreased renal tubular phosphate reabsorption, hypercalciuria, and low molecular weight proteinuria. Patients develop nephrocalcinosis with progressive renal failure in adulthood. Female carriers may have asymptomatic hypercalciuria or hypophosphatemia only." []
xref: MedGen:C1845168
xref: MeSH:D053098
xref: MIM:300554 "phenotype"
[Term]
id: DI-00575
name: Hypomagnesemia 5, renal, with or without ocular involvement
def: "A progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. The renal phenotype is virtually undistinguishable from that of patients with HOMG3." []
synonym: "Familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement" [UniProt]
synonym: "FHHNC with severe ocular involvement" [UniProt]
synonym: "Hypomagnesemia 5" [UniProt]
synonym: "Hypomagnesemia 5 renal with ocular involvement" [UniProt]
synonym: "Hypomagnesemia renal with ocular involvement" [UniProt]
synonym: "Macular coloboma bilateral with hypercalciuria" [UniProt]
xref: MedGen:C1855466
xref: MeSH:D009397
xref: MeSH:D015499
xref: MeSH:D053565
xref: MIM:248190 "phenotype"
[Term]
id: DI-00576
name: Hypomagnesemia 1
def: "A disorder due to a primary defect in intestinal magnesium absorption. It is characterized by low levels of serum magnesium alongside with a normal renal magnesium secretion, secondary hypocalcemia and calcinocis. Affected individuals show neurologic symptoms of hypomagnesemic hypocalcemia, including seizures and muscle spasms, during infancy. Hypocalcemia is secondary to parathyroid failure resulting from magnesium deficiency. Untreated, the disorder may be fatal or may result in neurological damage." []
synonym: "HOMG" [UniProt]
synonym: "HSH" [UniProt]
synonym: "Hypomagnesemia with secondary hypocalcemia" [UniProt]
synonym: "Hypomagnesemic tetany" [UniProt]
synonym: "Intestinal hypomagnesemia 1" [UniProt]
synonym: "Intestinal hypomagnesemia with secondary hypocalcemia" [UniProt]
xref: MedGen:C0269941
xref: MedGen:C0342658
xref: MedGen:C1865974
xref: MeSH:D008286
xref: MIM:602014 "phenotype"
[Term]
id: DI-00577
name: Hypomagnesemia 2
def: "A disorder due to primary renal wasting of magnesium. Plasma levels of other electrolytes are normal. The only abnormality found, in addition to low magnesium levels, is lowered renal excretion of calcium resulting in hypocalciuria." []
synonym: "Dominant renal hypomagnesemia" [UniProt]
synonym: "Hypomagnesemia with hypocalciuria" [UniProt]
synonym: "Isolated renal magnesium loss" [UniProt]
synonym: "Renal hypomagnesemia 2" [UniProt]
synonym: "Renal magnesium wasting" [UniProt]
xref: MedGen:C1835171
xref: MeSH:D015499
xref: MIM:154020 "phenotype"
[Term]
id: DI-00578
name: Hypomagnesemia 3
def: "A progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis. Recurrent urinary tract infections and kidney stones are often observed. In spite of hypercalciuria, patients do not show hypocalcemia." []
synonym: "Familial hypomagnesemia with hypercalciuria and nephrocalcinosis" [UniProt]
synonym: "FHHNC" [UniProt]
synonym: "HHN" [UniProt]
synonym: "Renal hypomagnesemia hypercalciuria nephrocalcinosis" [UniProt]
xref: MedGen:C0268448
xref: MedGen:C3151482
xref: MeSH:D009397
xref: MeSH:D015499
xref: MeSH:D053565
xref: MIM:248250 "phenotype"
[Term]
id: DI-00579
name: Hypomagnesemia 4
def: "A disorder characterized by massive renal hypomagnesemia and normal levels of serum calcium and calcium excretion. Clinical features include seizures, mild-to moderate psychomotor retardation, and brisk tendon reflexes." []
synonym: "Renal hypomagnesemia normocalciuric" [UniProt]
xref: MedGen:C2673648
xref: MeSH:D015499
xref: MIM:611718 "phenotype"
[Term]
id: DI-00580
name: Ichthyosis, annular epidermolytic, 1
def: "A form of annular epidermolytic ichthyosis, an autosomal dominant skin disorder characterized by polycyclic, migratory erythematous and scaly plaques. AEI1 is characterized by the development of widespread erythematous blistering in the neonatal period or early childhood that subsides over time." []
synonym: "AEI" [UniProt]
synonym: "Annular ichthyosis variant of BCIE" [UniProt]
synonym: "Cyclic ichthyosis with epidermolytic hyperkeratosis" [UniProt]
synonym: "Ichthyosis annular epidermolytic" [UniProt]
xref: MedGen:C1843463
xref: MeSH:D007057
xref: MIM:607602 "phenotype"
[Term]
id: DI-00582
name: Ichthyosis bullosa of Siemens
def: "A rare autosomal dominant skin disorder displaying a type of epidermolytic hyperkeratosis characterized by generalized erythema and extensive blistering from birth. Large, dark gray hyperkeratoses are observed in later weeks. The skin of IBS patients is unusually fragile and has a tendency to shed the outer layers of the epidermis, producing localized denuded areas (molting effect). IBS usually improves with age so that in most middle-aged patients the hyperkeratosis and keratotic lichenification is limited to the flexural folds of the major joints." []
synonym: "Ichthyosis bullous type" [UniProt]
xref: MedGen:C0432306
xref: MedGen:C1838440
xref: MeSH:D053560
xref: MIM:146800 "phenotype"
[Term]
id: DI-00583
name: Ichthyosis, congenital, autosomal recessive 6
def: "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs." []
synonym: "Ichthyosis congenital autosomal recessive" [UniProt]
synonym: "Ichthyosis, congenital, autosomal recessive, ichthyin-related" [UniProt]
synonym: "Ichthyosis, congenital, autosomal recessive, NIPAL4-related" [UniProt]
xref: MedGen:C2677065
xref: MeSH:D017490
xref: MIM:612281 "phenotype"
[Term]
id: DI-00584
name: Ichthyosis, congenital, autosomal recessive 4B
def: "A rare, very severe form of congenital ichthyosis, in which the neonate is born with a thick covering of armor-like scales. The skin dries out to form hard diamond-shaped plaques separated by fissures, resembling 'armor plating'. The normal facial features are severely affected, with distortion of the lips (eclabion), eyelids (ectropion), ears, and nostrils. Affected babies are often born prematurely and rarely survive the perinatal period. Babies who survive into infancy and beyond develop skin changes resembling severe non-bullous congenital ichthyosiform erythroderma." []
synonym: "Harlequin fetus" [UniProt]
synonym: "Harlequin ichthyosis" [UniProt]
synonym: "HI" [UniProt]
synonym: "Ichthyosis congenita harlequin fetus type" [UniProt]
xref: MedGen:C0239849
xref: MedGen:C0598226
xref: MeSH:D017490
xref: MIM:242500 "phenotype"
[Term]
id: DI-00585
name: Ichthyosis hystrix, Curth-Macklin type
def: "A genodermatosis with severe verrucous hyperkeratosis. Affected individuals manifest congenital verrucous black scale on the scalp, neck, and limbs with truncal erythema, palmoplantar keratoderma and keratoses on the lips, ears, nipples and buttocks." []
xref: MedGen:C1840296
xref: MeSH:D007057
xref: MIM:146590 "phenotype"
[Term]
id: DI-00586
name: Ichthyosis hystrix-like with deafness syndrome
def: "An autosomal dominant keratinizing disorder characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin. HID syndrome is considered to differ from the similar KID syndrome in the extent and time of occurrence of skin symptoms and the severity of the associated keratitis." []
xref: MedGen:C1865234
xref: MeSH:D006319
xref: MeSH:D007057
xref: MIM:602540 "phenotype"
[Term]
id: DI-00588
name: Ichthyosis, congenital, autosomal recessive 4A
def: "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs." []
synonym: "Ichthyosis congenita IIB" [UniProt]
synonym: "ICR2B" [UniProt]
synonym: "Lamellar ichthyosis 2" [UniProt]
synonym: "LI2" [UniProt]
xref: MedGen:C1832550
xref: MeSH:D017490
xref: MIM:601277 "phenotype"
[Term]
id: DI-00589
name: Ichthyosis, congenital, autosomal recessive 5
def: "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs." []
synonym: "Ichthyosis congenita III" [UniProt]
synonym: "Lamellar ichthyosis 3" [UniProt]
synonym: "LI3" [UniProt]
synonym: "NNCI" [UniProt]
synonym: "Non-lamellar and non-erythrodermic congenital autosomal recessive ichthyosis" [UniProt]
xref: MedGen:C1858133
xref: MedGen:C1858142
xref: MeSH:D017490
xref: MIM:604777 "phenotype"
[Term]
id: DI-00590
name: Ichthyosis-sclerosing cholangitis neonatal syndrome
def: "A rare autosomal recessive complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, mild diffuse ichthyosis, sclerosing cholangitis and leukocyte vacuolization." []
synonym: "Ichthyosis with leukocyte vacuoles, alopecia and sclerosing cholangitis" [UniProt]
synonym: "ILVASC" [UniProt]
synonym: "NISCH syndrome" [UniProt]
xref: MedGen:C1843355
xref: MeSH:D007057
xref: MIM:607626 "phenotype"
[Term]
id: DI-00591
name: Ichthyosis vulgaris
def: "The most common form of ichthyosis inherited as an autosomal dominant trait. It is characterized by palmar hyperlinearity, keratosis pilaris and a fine scale that is most prominent over the lower abdomen, arms, and legs. Ichthyosis vulgaris is characterized histologically by absent or reduced keratohyalin granules in the epidermis and mild hyperkeratosis. The disease can be associated with frequent asthma, eczema or hay fever." []
synonym: "Ichthyosis simplex" [UniProt]
xref: MedGen:C0079584
xref: MeSH:D016112
xref: MIM:146700 "phenotype"
[Term]
id: DI-00592
name: Ichthyosis, X-linked
def: "A keratinization disorder manifesting with mild erythroderma and generalized exfoliation of the skin within a few weeks after birth. Affected boys later develop large, polygonal, dark brown scales, especially on the neck, extremities, trunk, and buttocks." []
synonym: "Placental steroid sulfatase deficiency" [UniProt]
synonym: "Steroid sulfatase deficiency" [UniProt]
xref: MedGen:C0079588
xref: MedGen:C2677713
xref: MedGen:C2717836
xref: MedGen:C2720163
xref: MeSH:D016114
xref: MIM:308100 "phenotype"
[Term]
id: DI-00593
name: Epilepsy, idiopathic generalized 9
def: "A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain." []
synonym: "Susceptibility to idiopathic generalized epilepsy 9" [UniProt]
xref: MedGen:C2750887
xref: MeSH:D004829
xref: MIM:607682 "phenotype"
[Term]
id: DI-00594
name: Epilepsy, idiopathic generalized 6
def: "A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain." []
synonym: "Susceptibility to idiopathic generalized epilepsy 6" [UniProt]
xref: MedGen:C2677793
xref: MeSH:D004829
xref: MIM:611942 "phenotype"
[Term]
id: DI-00595
name: Hypogonadotropic hypogonadism 7 with or without anosmia
def: "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH)." []
synonym: "Congenital hypogonadotropic hypogonadism normosmic" [UniProt]
synonym: "HH" [UniProt]
synonym: "Hypogonadotropic hypogonadism" [UniProt]
synonym: "Idiopathic hypogonadotropic hypogonadism" [UniProt]
synonym: "IHH" [UniProt]
synonym: "Isolated hypogonadotropic hypogonadism" [UniProt]
xref: MedGen:C0342384
xref: MeSH:D007006
xref: MIM:146110 "phenotype"
[Term]
id: DI-00597
name: Incontinentia pigmenti
def: "A genodermatosis usually prenatally lethal in males. In affected females, it causes abnormalities of the skin, hair, eyes, nails, teeth, skeleton, heart, and central nervous system. The prominent skin signs occur in four classic cutaneous stages: perinatal inflammatory vesicles, verrucous patches, a distinctive pattern of hyperpigmentation and dermal scarring." []
synonym: "Bloch-Sulzberger syndrome" [UniProt]
synonym: "Familial incontinentia pigmenti male-lethal type" [UniProt]
synonym: "Familial incontinentia pigmenti type II" [UniProt]
synonym: "IP2" [UniProt]
xref: MedGen:C0021171
xref: MedGen:C2930820
xref: MeSH:D007184
xref: MIM:308300 "phenotype"
[Term]
id: DI-00598
name: Peroxisome biogenesis disorder 3B
def: "A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid." []
synonym: "Peroxisome biogenesis disorder 3B (NALD/IRD)" [UniProt]
synonym: "Peroxisome biogenesis disorder 3B (neonatal adrenoleukodystrophy/infantile Refsum disease)" [UniProt]
xref: MedGen:C3550693
xref: MeSH:D052919
xref: MIM:266510 "phenotype"
[Term]
id: DI-00599
name: Intractable childhood epilepsy with generalized tonic-clonic seizures
def: "A disorder characterized by generalized tonic-clonic seizures beginning usually in infancy and induced by fever. Seizures are associated with subsequent mental decline, as well as ataxia or hypotonia. ICEGTC is similar to SMEI, except for the absence of myoclonic seizures." []
xref: MedGen:C3501832
xref: MeSH:D004831
xref: MIM:607208 "phenotype"
[Term]
id: DI-00600
name: Cholestasis of pregnancy, intrahepatic 1
def: "A liver disorder of pregnancy. It presents during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more severe with advancing gestation and cholestasis. Cholestasis results from abnormal biliary transport from the liver into the small intestine. ICP1 causes fetal distress, spontaneous premature delivery and intrauterine death. ICP1 patients have spontaneous and progressive disappearance of cholestasis after delivery." []
synonym: "Obstetric cholestasis" [UniProt]
synonym: "Pregnancy-related cholestasis" [UniProt]
synonym: "Recurrent intrahepatic cholestasis of pregnancy" [UniProt]
xref: MedGen:C0268318
xref: MedGen:C3549845
xref: MeSH:D002780
xref: MIM:147480 "phenotype"
[Term]
id: DI-00601
name: Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency
def: "A disorder resulting in a rare variant of congenital adrenal hyperplasia, with apparent combined P450C17 and P450C21 deficiency and accumulation of steroid metabolites. Affected girls are born with ambiguous genitalia, but their circulating androgens are low and virilization does not progress. Conversely, affected boys are sometimes born undermasculinized. Boys and girls can present with bone malformations, in some cases resembling the pattern seen in patients with Antley-Bixler syndrome." []
synonym: "Adrenal hyperplasia congenital due to cytochrome P450 oxidoreductase deficiency" [UniProt]
synonym: "Congenital adrenal hyperplasia due to apparent combined P450C17 and P450C21 deficiency" [UniProt]
synonym: "Cytochrome P450 oxidoreductase deficiency" [UniProt]
synonym: "Disordered steroidogenesis due to POR deficiency" [UniProt]
synonym: "POR deficiency" [UniProt]
xref: MedGen:C2673964
xref: MeSH:D000312
xref: MIM:613571 "phenotype"
[Term]
id: DI-00602
name: Jackson-Weiss syndrome
def: "An autosomal dominant craniosynostosis syndrome characterized by craniofacial abnormalities and abnormality of the feet: broad great toes with medial deviation and tarsal-metatarsal coalescence." []
synonym: "Craniosynostosis-midfacial hypoplasia-foot abnormalities" [UniProt]
xref: MedGen:C0795998
xref: MeSH:D003398
xref: MeSH:D005532
xref: MIM:123150 "phenotype"
[Term]
id: DI-00603
name: Jalili syndrome
def: "A syndrome characterized by the association of cone-rod dystrophy and amelogenesis imperfecta." []
synonym: "Cone-rod dystrophy and amelogenesis imperfecta" [UniProt]
xref: MedGen:C1857588
xref: MedGen:C3495589
xref: MeSH:D000567
xref: MeSH:D012164
xref: MIM:217080 "phenotype"
[Term]
id: DI-00604
name: Jervell and Lange-Nielsen syndrome 1
def: "An autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death." []
synonym: "Cardioauditory syndrome of Jervell and Lange-Nielsen" [UniProt]
synonym: "Congenital deafness and functional heart disease" [UniProt]
synonym: "Long QT interval-deafness" [UniProt]
synonym: "Prolonged QT interval in EKG and sudden death" [UniProt]
synonym: "Surdo-cardiac syndrome" [UniProt]
xref: MedGen:C0022387
xref: MedGen:CN177652
xref: MeSH:D029593
xref: MIM:220400 "phenotype"
[Term]
id: DI-00605
name: Jervell and Lange-Nielsen syndrome 2
def: "An autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death." []
synonym: "Cardioauditory syndrome of Jervell and Lange-Nielsen" [UniProt]
synonym: "Congenital deafness and functional heart disease" [UniProt]
synonym: "Long QT interval-deafness" [UniProt]
synonym: "Prolonged QT interval in EKG and sudden death" [UniProt]
synonym: "Surdo-cardiac syndrome" [UniProt]
xref: MedGen:C2676723
xref: MeSH:D029593
xref: MIM:612347 "phenotype"
[Term]
id: DI-00606
name: Joubert syndrome 3
def: "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 3 shows minimal extra central nervous system involvement and appears not to be associated with renal dysfunction." []
xref: MedGen:C1837713
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:608629 "phenotype"
[Term]
id: DI-00607
name: Joubert syndrome 4
def: "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 4 is a phenotypically mild form." []
xref: MedGen:C1846790
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:609583 "phenotype"
[Term]
id: DI-00608
name: Joubert syndrome 5
def: "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 5 shares the neurologic and neuroradiologic features of Joubert syndrome together with severe retinal dystrophy and/or progressive renal failure characterized by nephronophthisis." []
xref: MedGen:C1857780
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:610188 "phenotype"
[Term]
id: DI-00609
name: Joubert syndrome 6
def: "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease." []
xref: MedGen:C1853153
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:610688 "phenotype"
[Term]
id: DI-00610
name: Joubert syndrome 7
def: "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease." []
synonym: "Cerebello-oculo-renal syndrome 3" [UniProt]
synonym: "CORS3" [UniProt]
xref: MedGen:C1969053
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:611560 "phenotype"
[Term]
id: DI-00611
name: Joubert syndrome 8
def: "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease." []
xref: MedGen:C2676771
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:612291 "phenotype"
[Term]
id: DI-00612
name: Joubert syndrome 9
def: "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease." []
xref: MedGen:C2676788
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:612285 "phenotype"
[Term]
id: DI-00613
name: Juvenile absence epilepsy 1
def: "A subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures." []
synonym: "EJA1" [UniProt]
synonym: "Susceptibility to juvenile absence epilepsy 1" [UniProt]
xref: MedGen:C0014553
xref: MedGen:C2750892
xref: MeSH:D004832
xref: MIM:607631 "phenotype"
[Term]
id: DI-00614
name: Juvenile myoclonic epilepsy 6
def: "A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue." []
synonym: "Susceptibility to juvenile myoclonic epilepsy 6" [UniProt]
xref: MedGen:CN043198
xref: MeSH:D020190
xref: MIM:607682 "phenotype"
[Term]
id: DI-00615
name: Juvenile myoclonic epilepsy 1
def: "A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue." []
synonym: "Janz syndrome" [UniProt]
synonym: "JME" [UniProt]
synonym: "Petit mal impulsive" [UniProt]
synonym: "Susceptibility to juvenile myoclonic epilepsy 1" [UniProt]
xref: MedGen:C0270853
xref: MedGen:C1850778
xref: MeSH:D020190
xref: MIM:254770 "phenotype"
[Term]
id: DI-00616
name: Juvenile primary lateral sclerosis
def: "A neurodegenerative disorder which is closely related to but clinically distinct from amyotrophic lateral sclerosis. It is a progressive paralytic disorder which results from dysfunction of the upper motor neurons while the lower neurons are unaffected." []
xref: MedGen:C1853396
xref: MeSH:D016472
xref: MIM:606353 "phenotype"
[Term]
id: DI-00617
name: Hypogonadotropic hypogonadism 1 with or without anosmia
def: "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH)." []
synonym: "Anosmic hypogonadism" [UniProt]
synonym: "Dysplasia olfactogenitalis of De Morsier" [UniProt]
synonym: "HHA" [UniProt]
synonym: "Hypogonadotropic hypogonadism and anosmia" [UniProt]
synonym: "KAL1" [UniProt]
synonym: "Kallmann syndrome 1" [UniProt]
synonym: "KMS" [UniProt]
xref: MedGen:C1563719
xref: MeSH:D017436
xref: MIM:308700 "phenotype"
[Term]
id: DI-00618
name: Hypogonadotropic hypogonadism 2 with or without anosmia
def: "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH)." []
synonym: "KAL2" [UniProt]
synonym: "Kallmann syndrome 2" [UniProt]
xref: MedGen:C1563720
xref: MedGen:C1835793
xref: MedGen:C1835794
xref: MedGen:C1969607
xref: MeSH:D017436
xref: MIM:147950 "phenotype"
[Term]
id: DI-00619
name: Hypogonadotropic hypogonadism 3 with or without anosmia
def: "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH)." []
synonym: "KAL3" [UniProt]
synonym: "Kallmann syndrome 3" [UniProt]
xref: MedGen:C2930927
xref: MedGen:C3550478
xref: MeSH:D017436
xref: MIM:244200 "phenotype"
[Term]
id: DI-00620
name: Hypogonadotropic hypogonadism 4 with or without anosmia
def: "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH)." []
synonym: "KAL4" [UniProt]
synonym: "Kallmann syndrome 4" [UniProt]
xref: MedGen:C1857720
xref: MedGen:C3552343
xref: MeSH:D017436
xref: MIM:610628 "phenotype"
[Term]
id: DI-00621
name: Hypogonadotropic hypogonadism 5 with or without anosmia
def: "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH)." []
synonym: "KAL5" [UniProt]
synonym: "Kallmann syndrome 5" [UniProt]
xref: MedGen:C2675302
xref: MedGen:C3552553
xref: MeSH:D017436
xref: MIM:612370 "phenotype"
[Term]
id: DI-00622
name: Hypogonadotropic hypogonadism 6 with or without anosmia
def: "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH)." []
synonym: "KAL6" [UniProt]
synonym: "Kallmann syndrome 6" [UniProt]
xref: MedGen:C2675188
xref: MedGen:C3552574
xref: MeSH:D017436
xref: MIM:612702 "phenotype"
[Term]
id: DI-00623
name: Kartagener syndrome
def: "An autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera)." []
synonym: "Dextrocardia-bronchiectasis-sinusitis syndrome" [UniProt]
synonym: "Immotile cilia syndrome Kartagener type" [UniProt]
synonym: "Primary ciliary dyskinesia Kartagener type" [UniProt]
synonym: "Siewert syndrome" [UniProt]
xref: MedGen:C0022521
xref: MeSH:D007619
xref: MIM:244400 "phenotype"
[Term]
id: DI-00624
name: Keratitis-ichthyosis-deafness syndrome, autosomal dominant
def: "An autosomal dominant form of keratitis-ichthyosis-deafness syndrome, a disease characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photophobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails." []
synonym: "KID" [UniProt]
synonym: "KID syndrome, autosomal dominant" [UniProt]
xref: MedGen:C0265336
xref: MeSH:D003638
xref: MeSH:D007057
xref: MeSH:D007634
xref: MIM:148210 "phenotype"
[Term]
id: DI-00625
name: Keratosis, seborrheic
def: "A common benign skin tumor. Seborrheic keratoses usually begin with the appearance of one or more sharply defined, light brown, flat macules. The lesions may be sparse or numerous. As they initially grow, they develop a velvety to finely verrucous surface, followed by an uneven warty surface with multiple plugged follicles and a dull or lackluster appearance." []
xref: MedGen:C0022603
xref: MeSH:D017492
xref: MIM:182000 "phenotype"
[Term]
id: DI-00626
name: L-2-hydroxyglutaric aciduria
def: "A rare autosomal recessive disorder clinically characterized by mild psychomotor delay in the first years of life, followed by progressive cerebellar ataxia, dysarthria and moderate to severe intellectual disability. Diagnosis is based on the presence of an excess of L-2- hydroxyglutaric acid in urine, blood and cerebrospinal fluid." []
synonym: "L-2-hydroxyglutaric acidemia" [UniProt]
xref: MedGen:C1855995
xref: MeSH:D008661
xref: MIM:236792 "phenotype"
[Term]
id: DI-00627
name: Lacrimo-auriculo-dento-digital syndrome 1
def: "A form of lacrimo-auriculo-dento-digital syndrome, an autosomal dominant disease characterized by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. In addition to these cardinal features, facial dysmorphism, malformations of the kidney and respiratory system and abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed." []
synonym: "Lacrimoauriculodentodigital syndrome" [UniProt]
synonym: "LADD syndrome" [UniProt]
synonym: "LADD syndrome 1" [UniProt]
synonym: "Levy-Hollister syndrome" [UniProt]
xref: MedGen:C0265269
xref: MeSH:D000015
xref: MeSH:D007766
xref: MeSH:D014071
xref: MeSH:D034381
xref: MIM:149730 "phenotype"
[Term]
id: DI-00628
name: Epilepsy, familial temporal lobe, 1
def: "A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature." []
synonym: "ADLTE" [UniProt]
synonym: "ADPEAF" [UniProt]
synonym: "Lateral temporal lobe epilepsy autosomal dominant" [UniProt]
synonym: "Partial epilepsy with auditory features" [UniProt]
xref: MedGen:C1838062
xref: MeSH:D004833
xref: MIM:600512 "phenotype"
[Term]
id: DI-00629
name: Leber congenital amaurosis 1
def: "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus." []
synonym: "Leber congenital amaurosis type I" [UniProt]
xref: MedGen:C2931258
xref: MedGen:CN034165
xref: MeSH:D057130
xref: MIM:204000 "phenotype"
[Term]
id: DI-00630
name: Leber congenital amaurosis 2
def: "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus." []
synonym: "Leber congenital amaurosis type II" [UniProt]
xref: MedGen:C1859844
xref: MeSH:D057130
xref: MIM:204100 "phenotype"
[Term]
id: DI-00631
name: Leber congenital amaurosis 3
def: "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus." []
xref: MedGen:C1858677
xref: MedGen:C2751780
xref: MeSH:D057130
xref: MIM:604232 "phenotype"
[Term]
id: DI-00632
name: Leber congenital amaurosis 4
def: "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus." []
xref: MedGen:C1858386
xref: MedGen:C2751763
xref: MedGen:C2751764
xref: MeSH:D057130
xref: MIM:604393 "phenotype"
[Term]
id: DI-00633
name: Leber congenital amaurosis 5
def: "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus." []
xref: MedGen:C1858301
xref: MeSH:D057130
xref: MIM:604537 "phenotype"
[Term]
id: DI-00634
name: Leber congenital amaurosis 6
def: "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus." []
xref: MedGen:C1854260
xref: MeSH:D057130
xref: MIM:613826 "phenotype"
[Term]
id: DI-00635
name: Leber congenital amaurosis 7
def: "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus." []
xref: MedGen:C3151192
xref: MeSH:D057130
xref: MIM:613829 "phenotype"
[Term]
id: DI-00636
name: Leber congenital amaurosis 8
def: "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus." []
xref: MedGen:C3151202
xref: MeSH:D057130
xref: MIM:613835 "phenotype"
[Term]
id: DI-00637
name: Leber congenital amaurosis 10
def: "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus." []
xref: MedGen:C1857821
xref: MeSH:D057130
xref: MIM:611755 "phenotype"
[Term]
id: DI-00638
name: Leber congenital amaurosis 12
def: "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus." []
xref: MedGen:C1857743
xref: MeSH:D057130
xref: MIM:610612 "phenotype"
[Term]
id: DI-00639
name: Leber congenital amaurosis 13
def: "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus." []
xref: MedGen:C2675186
xref: MeSH:D057130
xref: MIM:612712 "phenotype"
[Term]
id: DI-00640
name: Leber hereditary optic neuropathy
def: "A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes." []
synonym: "Leber optic atrophy" [UniProt]
synonym: "LOA" [UniProt]
synonym: "Optic atrophy Leber type" [UniProt]
xref: MedGen:C0917796
xref: MeSH:D029242
xref: MIM:535000 "phenotype"
[Term]
id: DI-00641
name: Leber hereditary optic neuropathy with dystonia
def: "A form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. LDYT is characterized by the association of optic atrophy and central vision loss with dystonia." []
synonym: "Familial dystonia with visual failure and striatal lucencies" [UniProt]
synonym: "Leber optic atrophy and dystonia" [UniProt]
synonym: "Marsden syndrome" [UniProt]
xref: MedGen:C1839040
xref: MeSH:D029242
xref: MIM:500001 "phenotype"
[Term]
id: DI-00642
name: Lecithin-cholesterol acyltransferase deficiency
def: "A disorder of lipoprotein metabolism characterized by inadequate esterification of plasmatic cholesterol. Two clinical forms are recognized: complete LCAT deficiency and fish-eye disease. LCATD is generally referred to the complete form which is associated with absence of both alpha and beta LCAT activities resulting in esterification anomalies involving both HDL (alpha-LCAT activity) and LDL (beta-LCAT activity). It causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure." []
synonym: "Familial LCAT deficiency" [UniProt]
synonym: "FLD" [UniProt]
synonym: "Lecithin:cholesterol acyltransferase deficiency" [UniProt]
synonym: "Norum disease" [UniProt]
xref: MedGen:C0023195
xref: MeSH:D007863
xref: MIM:245900 "phenotype"
[Term]
id: DI-00643
name: Congenital arthrogryposis with anterior horn cell disease
def: "An autosomal recessive disorder characterized by fetal akinesia, arthrogryposis and motor neuron loss. The fetus often survives delivery, but dies early as a result of respiratory failure. Neuropathological findings resemble those of lethal congenital contracture syndrome type 1, but are less severe." []
synonym: "LAAHD" [UniProt]
synonym: "Lethal arthrogryposis with anterior horn cell disease" [UniProt]
xref: MedGen:C2678471
xref: MeSH:D001176
xref: MeSH:D016472
xref: MIM:611890 "phenotype"
[Term]
id: DI-00644
name: Lethal congenital contracture syndrome 1
def: "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non- progressive joint contractures (arthrogryposis). The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS1 patients manifest early fetal hydrops and akinesia, micrognathia, pulmonary hypoplasia, pterygia, and multiple joint contractures. It leads to prenatal death." []
synonym: "Multiple contracture syndrome Finnish type" [UniProt]
xref: MedGen:C1854664
xref: MeSH:D001176
xref: MIM:253310 "phenotype"
[Term]
id: DI-00645
name: Lethal congenital contracture syndrome 2
def: "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non- progressive joint contractures (arthrogryposis). The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS2 patients manifest craniofacial/ocular findings, lack of hydrops, multiple pterygia, and fractures, as well as a normal duration of pregnancy and a unique feature of a markedly distended urinary bladder (neurogenic bladder defect). The phenotype suggests a spinal cord neuropathic etiology." []
synonym: "Israeli Bedouin multiple contracture syndrome type A" [UniProt]
xref: MedGen:C1843478
xref: MeSH:D001176
xref: MIM:607598 "phenotype"
[Term]
id: DI-00646
name: Leukodystrophy, demyelinating, autosomal dominant, adult-onset
def: "A slowly progressive and fatal demyelinating leukodystrophy, presenting in the fourth or fifth decade of life. Clinically characterized by early autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS. It differs from multiple sclerosis and other demyelinating disorders in that neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis." []
synonym: "Multiple sclerosis-like disorder" [UniProt]
synonym: "Pelizaeus-Merzbacher disease autosomal dominant" [UniProt]
synonym: "Pelizaeus-Merzbacher disease late-onset type" [UniProt]
xref: MedGen:C1868512
xref: MeSH:D020279
xref: MIM:169500 "phenotype"
[Term]
id: DI-00647
name: Krabbe disease
def: "An autosomal recessive disorder characterized by insufficient catabolism of several galactolipids that are important for normal myelin production. Four clinical forms are recognized. The infantile form accounts for 90% of cases. It manifests before six months of age with irritability, spasticity, arrest of motor and mental development, and bouts of temperature elevation without infection. This is followed by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits, and mental regression, which progresses to a severe decerebrate condition with no voluntary movements and death from respiratory infections or cerebral hyperpyrexia before 2 years of age. Cases with later onset present with unexplained blindness, weakness and sensorimotor peripheral neuropathy, mental deterioration and death." []
synonym: "Galactosylceramide beta-galactosidase deficiency" [UniProt]
synonym: "GALC deficiency" [UniProt]
synonym: "GCL" [UniProt]
synonym: "GLD" [UniProt]
synonym: "Globoid cell leukoencephalopathy" [UniProt]
xref: MedGen:C0023521
xref: MeSH:D007965
xref: MIM:245200 "phenotype"
[Term]
id: DI-00648
name: Leukodystrophy, hypomyelinating, 1
def: "An X-linked recessive disorder of the central nervous system in which myelin is not formed properly. Clinically characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay." []
synonym: "Brain sclerosis diffuse familial" [UniProt]
synonym: "Pelizaeus-Merzbacher brain sclerosis" [UniProt]
synonym: "Pelizaeus-Merzbacher disease" [UniProt]
synonym: "PMD" [UniProt]
synonym: "Sudanophilic leukodystrophy Paelizeus-Merzbacher type" [UniProt]
xref: MedGen:C0205711
xref: MeSH:D020371
xref: MIM:312080 "phenotype"
[Term]
id: DI-00649
name: Leukodystrophy, hypomyelinating, 2
def: "An autosomal recessive hypomyelinating leukodystrophy with symptoms of Pelizaeus-Merzbacher disease. Clinically characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity." []
synonym: "Pelizaeus-Merzbacher-like disease autosomal recessive type 1" [UniProt]
synonym: "Pelizaeus-Merzbacher-like disease type 1" [UniProt]
synonym: "PMLD1" [UniProt]
synonym: "PMLDAR1" [UniProt]
xref: MedGen:C1837355
xref: MeSH:D020279
xref: MIM:608804 "phenotype"
[Term]
id: DI-00650
name: Leukodystrophy, hypomyelinating, 4
def: "A severe autosomal recessive hypomyelinating leukodystrophy. Clinically characterized by infantile-onset rotary nystagmus, progressive spastic paraplegia, neurologic regression, motor impairment, profound intellectual disability. Death usually occurs within the first two decades of life." []
synonym: "MitCHAP-60 disease" [UniProt]
synonym: "MitCHAP60 disease" [UniProt]
synonym: "Mitochondrial HSP60 chaperonopathy" [UniProt]
xref: MedGen:C2677109
xref: MeSH:D020279
xref: MIM:612233 "phenotype"
[Term]
id: DI-00651
name: Leukodystrophy, hypomyelinating, 5
def: "A hypomyelinating leukodystrophy associated with congenital cataract. It is clinically characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. Affected individuals experience progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailingly in the lower limbs. Mental deficiency ranges from mild to moderate. HLD5 shows clinical variability, but features of hypomyelination combined with increased periventricular white matter water content are consistently observed." []
synonym: "HCC" [UniProt]
synonym: "Hypomyelination with congenital cataract" [UniProt]
xref: MedGen:C1864663
xref: MedGen:C2674508
xref: MeSH:D020279
xref: MIM:610532 "phenotype"
[Term]
id: DI-00652
name: Metachromatic leukodystrophy
def: "An autosomal recessive disease caused by abnormal intralysosomal accumulation of cerebroside-3-sulfate in central and peripheral nervous systems, as well as other organs. MLD is clinically characterized by leukodystrophy, progressive demyelination and a variety of neurological symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures, and spastic tetraparesis. Decreased arylsulfatase A activity is detected in urine, leukocytes, and fibroblasts of affected individuals. Several forms of the disease can be distinguished according to the age at onset and disease severity: late infantile, juvenile and adult forms, partial cerebroside sulfate deficiency, and pseudoarylsulfatase A deficiency. Individuals with pseudoarylsulfatase A deficiency have low arylsulfatase A activity but lack neurological manifestations and are apparently healthy." []
synonym: "ARSA deficiency" [UniProt]
synonym: "Arylsulfatase A deficiency" [UniProt]
synonym: "Cerebral sclerosis, diffuse, metachromatic form" [UniProt]
synonym: "Cerebroside sulfatase deficiency" [UniProt]
synonym: "Metachromatic leukodystrophy, adult" [UniProt]
synonym: "Metachromatic leukodystrophy, juvenile" [UniProt]
synonym: "Metachromatic leukodystrophy, late infantile" [UniProt]
synonym: "Pseudoarylsulfatase A deficiency" [UniProt]
synonym: "Sulfatide lipidosis" [UniProt]
xref: MedGen:C0023522
xref: MedGen:C0751276
xref: MedGen:C0751278
xref: MedGen:C0751279
xref: MedGen:C1855255
xref: MedGen:C2713319
xref: MeSH:D007966
xref: MIM:250100 "phenotype"
[Term]
id: DI-00654
name: Leukoencephalopathy with vanishing white matter 1
def: "An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy." []
synonym: "CACH" [UniProt]
synonym: "Childhood ataxia with central nervous system hypomyelinization" [UniProt]
synonym: "CLE" [UniProt]
synonym: "Cree leukoencephalopathy" [UniProt]
synonym: "Leukodystrophy with vanishing white matter" [UniProt]
synonym: "Leukoencephalopathy with vanishing white matter" [UniProt]
synonym: "Vanishing white matter disease" [UniProt]
synonym: "VWM" [UniProt]
xref: MedGen:C1847967
xref: MedGen:C1858991
xref: MedGen:C2931489
xref: MeSH:D056784
xref: MIM:603896 "phenotype"
[Term]
id: DI-00658
name: Muscular dystrophy, limb-girdle, autosomal recessive 1
def: "An autosomal recessive degenerative myopathy characterized by progressive symmetrical atrophy and weakness of the proximal limb muscles and elevated serum creatine kinase. The symptoms usually begin during the first two decades of life, and the disease gradually worsens, often resulting in loss of walking ability 10 or 20 years after onset." []
synonym: "Calpainopathy" [UniProt]
synonym: "Leyden-Moebious muscular dystrophy" [UniProt]
synonym: "LGMD2" [UniProt]
synonym: "LGMD2A" [UniProt]
synonym: "Limb-girdle muscular dystrophy 2A" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 2" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 2A" [UniProt]
synonym: "Muscular dystrophy, pelvofemoral" [UniProt]
xref: MedGen:C1299884
xref: MedGen:C1869123
xref: MeSH:D049288
xref: MIM:253600 "phenotype"
[Term]
id: DI-00659
name: Muscular dystrophy, limb-girdle, autosomal recessive 2
def: "An autosomal recessive degenerative myopathy characterized by weakness and atrophy starting in the proximal pelvifemoral muscles, with onset in the late teens or later, massive elevation of serum creatine kinase levels and slow progression. Scapular muscle involvement is minor and not present at onset. Upper limb girdle involvement follows some years after the onset in lower limbs." []
synonym: "LGMD2B" [UniProt]
synonym: "LGMD3" [UniProt]
synonym: "Limb-girdle muscular dystrophy 2B" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 2B" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 3" [UniProt]
xref: MedGen:C1850889
xref: MeSH:D049288
xref: MIM:253601 "phenotype"
[Term]
id: DI-00660
name: Muscular dystrophy, limb-girdle, autosomal recessive 5
def: "An autosomal recessive degenerative myopathy characterized by rapidly progressive muscle wasting from early childhood with loss of independent ambulation around age 12 years, dystrophic pattern on muscle biopsy, absence of gamma-sarcoglycan and normal dystrophin immunostaining." []
synonym: "DMDA1" [UniProt]
synonym: "Duchenne-like muscular dystrophy autosomal recessive type 1" [UniProt]
synonym: "LGMD2C" [UniProt]
synonym: "Limb-girdle muscular dystrophy 2C" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 2C" [UniProt]
synonym: "Sarcoglycan gamma deficiency" [UniProt]
synonym: "SCARMD" [UniProt]
synonym: "Severe childhood autosomal recessive muscular dystrophy North African type" [UniProt]
xref: MedGen:C0410173
xref: MeSH:D049288
xref: MIM:253700 "phenotype"
[Term]
id: DI-00661
name: Muscular dystrophy, limb-girdle, autosomal recessive 3
def: "An autosomal recessive degenerative myopathy characterized by progressive muscle wasting from early childhood with loss of independent ambulation by teenage years. Muscle biopsy shows necrosis, decreased immunostaining for alpha sarcoglycan, and adhalin deficiency." []
synonym: "Adhalinopathy primary" [UniProt]
synonym: "DMDA2" [UniProt]
synonym: "Duchenne-like muscular dystrophy autosomal recessive type 2" [UniProt]
synonym: "LGMD2D" [UniProt]
synonym: "Limb-girdle muscular dystrophy 2D" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 2D" [UniProt]
synonym: "SCARMD" [UniProt]
synonym: "Severe childhood autosomal recessive muscular dystrophy" [UniProt]
xref: MedGen:C1842550
xref: MeSH:D049288
xref: MIM:608099 "phenotype"
[Term]
id: DI-00662
name: Muscular dystrophy, limb-girdle, autosomal recessive 4
def: "An autosomal recessive degenerative myopathy characterized by pelvic and shoulder muscle wasting, onset usually in childhood and variable progression rate." []
synonym: "LGMD2E" [UniProt]
synonym: "Limb-girdle muscular dystrophy 2E" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 2E" [UniProt]
xref: MedGen:C1858593
xref: MeSH:D049288
xref: MIM:604286 "phenotype"
[Term]
id: DI-00663
name: Muscular dystrophy, limb-girdle, autosomal recessive 6
def: "An autosomal recessive degenerative myopathy initially affecting the proximal limb girdle musculature. Muscle from patients shows a complete loss of delta-sarcoglycan as well as of the others components of the sarcoglycan complex." []
synonym: "LGMD2F" [UniProt]
synonym: "Limb-girdle muscular dystrophy 2F" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 2F" [UniProt]
xref: MedGen:C1832525
xref: MeSH:D049288
xref: MIM:601287 "phenotype"
[Term]
id: DI-00664
name: Muscular dystrophy, limb-girdle, autosomal recessive 7
def: "An autosomal recessive degenerative myopathy characterized by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle biopsy, and absence of telethonin. Cardiac muscle is involved in a subset of patients." []
synonym: "LGMD2G" [UniProt]
synonym: "Limb-girdle muscular dystrophy 2G" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 2G" [UniProt]
xref: MedGen:C1866008
xref: MeSH:D049288
xref: MIM:601954 "phenotype"
[Term]
id: DI-00665
name: Muscular dystrophy, limb-girdle, autosomal recessive 8
def: "An autosomal recessive degenerative myopathy characterized by pelvic girdle, shoulder girdle and quadriceps muscle weakness. Clinical phenotype and severity are highly variable. Disease progression is slow and most patients remain ambulatory into the sixth decade of life." []
synonym: "LGMD2H" [UniProt]
synonym: "Limb-girdle muscular dystrophy 2H" [UniProt]
synonym: "Muscular dystrophy Hutterite type" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 2H" [UniProt]
synonym: "Sarcotubular myopathy" [UniProt]
xref: MedGen:C0270968
xref: MeSH:D049288
xref: MIM:254110 "phenotype"
[Term]
id: DI-00666
name: Muscular dystrophy-dystroglycanopathy limb-girdle C5
def: "An autosomal recessive degenerative myopathy with age of onset ranging from childhood to adult life, and variable severity. Clinical features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. A reduction of alpha- dystroglycan and laminin alpha-2 expression can be observed on skeletal muscle biopsy from MDDGC5 patients." []
synonym: "LGMD2I" [UniProt]
synonym: "LGMDR9" [UniProt]
synonym: "Limb-girdle muscular dystrophy type 2I" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, autosomal recessive 9" [UniProt]
synonym: "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5" [UniProt]
synonym: "Muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related" [UniProt]
xref: MedGen:C1846672
xref: MeSH:D049288
xref: MIM:607155 "phenotype"
[Term]
id: DI-00667
name: Muscular dystrophy, limb-girdle, autosomal recessive 10
def: "An autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles. Severe disability is observed within 20 years of onset." []
synonym: "LGMD2J" [UniProt]
synonym: "Limb-girdle muscular dystrophy 2J" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 2J" [UniProt]
xref: MedGen:C1837342
xref: MeSH:D049288
xref: MIM:608807 "phenotype"
[Term]
id: DI-00668
name: Muscular dystrophy-dystroglycanopathy limb-girdle C1
def: "An autosomal recessive degenerative myopathy associated with mild intellectual disability without any obvious structural brain abnormality. An abnormal alpha-dystroglycan pattern in observed in the muscle." []
synonym: "LGMD2K" [UniProt]
synonym: "LGMDR11" [UniProt]
synonym: "Limb-girdle muscular dystrophy type 2K" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, autosomal recessive 11" [UniProt]
synonym: "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1" [UniProt]
xref: MedGen:C1836373
xref: MeSH:D049288
xref: MIM:609308 "phenotype"
[Term]
id: DI-00669
name: Muscular dystrophy-dystroglycanopathy limb-girdle C4
def: "An autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles, and elevated serum creatine kinase. MDDGC4 has no brain involvement and a remarkable clinical response to corticosteroids." []
synonym: "LGMD2M" [UniProt]
synonym: "LGMDR13" [UniProt]
synonym: "Limb-girdle muscular dystrophy type 2M" [UniProt]
synonym: "MDGD4C" [UniProt]
synonym: "Muscular dystrophy due to defective glycosylation of dystroglycan 4C" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, autosomal recessive 13" [UniProt]
synonym: "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4" [UniProt]
xref: MedGen:C1969040
xref: MeSH:D049288
xref: MIM:611588 "phenotype"
[Term]
id: DI-00670
name: Lissencephaly 1
def: "A classical lissencephaly. It is characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six- layered cortex. The cortex is abnormally thick and poorly organized with 4 primitive layers. Associated with enlarged and dysmorphic ventricles and often hypoplasia of the corpus callosum." []
synonym: "Classic lissencephaly" [UniProt]
synonym: "Lissencephaly-1" [UniProt]
xref: MedGen:C0431375
xref: MedGen:C1843916
xref: MeSH:D054082
xref: MIM:607432 "phenotype"
[Term]
id: DI-00671
name: Lissencephaly 2
def: "A classic type lissencephaly associated with ataxia, intellectual disability, seizures and abnormalities of the cerebellum, hippocampus and brainstem." []
synonym: "LCH" [UniProt]
synonym: "Lissencephaly syndrome Norman-Roberts type" [UniProt]
synonym: "Lissencephaly with cerebellar hypoplasia" [UniProt]
synonym: "Norman-Roberts syndrome" [UniProt]
xref: MedGen:C0796089
xref: MedGen:CN187053
xref: MeSH:D054082
xref: MIM:257320 "phenotype"
[Term]
id: DI-00672
name: Lissencephaly 3
def: "A classic type lissencephaly associated with psychomotor retardation and seizures. Features include agyria or pachygyria or laminar heterotopia, severe intellectual disability, motor delay, variable presence of seizures, and abnormalities of corpus callosum, hippocampus, cerebellar vermis and brainstem." []
xref: MedGen:C1969029
xref: MeSH:D054082
xref: MIM:611603 "phenotype"
[Term]
id: DI-00673
name: Lissencephaly, X-linked 1
def: "A classic lissencephaly characterized by intellectual disability and seizures that are more severe in male patients. Affected boys show an abnormally thick cortex with absent or severely reduced gyri. Clinical manifestations include feeding problems, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe phenotype referred to as 'doublecortex'." []
synonym: "XLIS" [UniProt]
xref: MedGen:C1848199
xref: MeSH:D054082
xref: MIM:300067 "phenotype"
[Term]
id: DI-00674
name: Lissencephaly, X-linked 2
def: "A classic type lissencephaly associated with abnormal genitalia. Patients have severe congenital or postnatal microcephaly, lissencephaly, agenesis of the corpus callosum, neonatal-onset intractable epilepsy, poor temperature regulation, chronic diarrhea, and ambiguous or underdeveloped genitalia." []
synonym: "Lissencephaly X-linked with ambiguous genitalia" [UniProt]
synonym: "XLAG" [UniProt]
synonym: "XLISG" [UniProt]
xref: MedGen:C1846171
xref: MedGen:C1846172
xref: MeSH:D054082
xref: MIM:300215 "phenotype"
[Term]
id: DI-00675
name: Loeys-Dietz syndrome 1
def: "An aortic aneurysm syndrome with widespread systemic involvement, characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Physical findings include prominent joint laxity, easy bruising, wide and atrophic scars, velvety and translucent skin with easily visible veins, spontaneous rupture of the spleen or bowel, and catastrophic complications of pregnancy, including rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period. Some patients have craniosynostosis, exotropy, micrognathia and retrognathia, structural brain abnormalities, and intellectual deficit." []
synonym: "AAT5" [UniProt]
synonym: "Familial thoracic aortic aneurysm 5" [UniProt]
synonym: "Furlong syndrome" [UniProt]
synonym: "LDAS" [UniProt]
synonym: "Loeys-Dietz aortic aneurysm syndrome" [UniProt]
synonym: "Marfanoid disorder-craniosynostosis syndrome" [UniProt]
xref: MedGen:C1836635
xref: MedGen:C2697933
xref: MedGen:C2931764
xref: MeSH:D055947
xref: MIM:609192 "phenotype"
[Term]
id: DI-00677
name: Loeys-Dietz syndrome 2
def: "An aortic aneurysm syndrome with widespread systemic involvement, characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Physical findings include prominent joint laxity, easy bruising, wide and atrophic scars, velvety and translucent skin with easily visible veins, spontaneous rupture of the spleen or bowel, and catastrophic complications of pregnancy, including rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period. Some patients have craniosynostosis, exotropy, micrognathia and retrognathia, structural brain abnormalities, and intellectual deficit." []
synonym: "AAT3" [UniProt]
synonym: "Familial aortic aneurysm thoracic type 3" [UniProt]
synonym: "Marfan syndrome type 2" [UniProt]
synonym: "MFS2" [UniProt]
synonym: "TAAD2" [UniProt]
synonym: "Thoracic aortic aneurysms and dissection 2" [UniProt]
xref: MedGen:C2674876
xref: MeSH:D055947
xref: MIM:610168 "phenotype"
[Term]
id: DI-00679
name: Long QT syndrome 1
def: "A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy." []
synonym: "Romano-Ward syndrome" [UniProt]
synonym: "RWS" [UniProt]
synonym: "Ward-Romano syndrome" [UniProt]
xref: MedGen:C0035828
xref: MedGen:C1843738
xref: MedGen:CN177655
xref: MeSH:D029597
xref: MIM:192500 "phenotype"
[Term]
id: DI-00680
name: Long QT syndrome 2
def: "A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Deafness is often associated with long QT syndrome type 2." []
synonym: "Long QT syndrome 1/2" [UniProt]
synonym: "LONG QT syndrome 2/3" [UniProt]
synonym: "LONG QT syndrome 2/5" [UniProt]
synonym: "LONG QT syndrome 2/9" [UniProt]
synonym: "LQT1/2" [UniProt]
synonym: "LQT2/3" [UniProt]
synonym: "LQT2/5" [UniProt]
synonym: "LQT2/9" [UniProt]
synonym: "Susceptibility to acquired Long QT syndrome 2" [UniProt]
xref: MedGen:C1859063
xref: MedGen:C3150943
xref: MedGen:C3150944
xref: MedGen:C3276240
xref: MedGen:C3279093
xref: MeSH:D008133
xref: MIM:613688 "phenotype"
[Term]
id: DI-00681
name: Long QT syndrome 3
def: "A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy." []
xref: MedGen:C1838527
xref: MedGen:C1859062
xref: MeSH:D008133
xref: MIM:603830 "phenotype"
[Term]
id: DI-00682
name: Long QT syndrome 4
def: "A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Long QT syndrome type 4 shows many atypical features compared to classical long QT syndromes, including pronounced sinus bradycardia, polyphasic T waves and atrial fibrillation. Cardiac repolarization defects may be not as severe as in classical LQT syndromes and prolonged QT interval on EKG is not a consistent feature." []
synonym: "Sick sinus syndrome with bradycardia" [UniProt]
xref: MedGen:C1833154
xref: MedGen:C1970119
xref: MeSH:D008133
xref: MIM:600919 "phenotype"
[Term]
id: DI-00683
name: Long QT syndrome 5
def: "A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy." []
synonym: "Long QT syndrome 2/5" [UniProt]
synonym: "LQT2/5" [UniProt]
synonym: "Susceptibility to acquired Long QT syndrome 5" [UniProt]
xref: MedGen:C1867904
xref: MedGen:C3150956
xref: MeSH:D008133
xref: MIM:613695 "phenotype"
[Term]
id: DI-00684
name: Long QT syndrome 6
def: "A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy." []
synonym: "Long QT syndrome 3/6" [UniProt]
synonym: "LQT3/6" [UniProt]
synonym: "Susceptibility to acquired Long QT syndrome 6" [UniProt]
xref: MedGen:C1863519
xref: MedGen:C3150953
xref: MedGen:C3150954
xref: MedGen:C3276241
xref: MeSH:D008133
xref: MIM:613693 "phenotype"
[Term]
id: DI-00685
name: Long QT syndrome 7
def: "A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Long QT syndrome type 7 manifests itself as a clinical triad consisting of potassium-sensitive periodic paralysis, ventricular ectopy and dysmorphic features." []
synonym: "Andersen cardiodysrhythmic periodic paralysis" [UniProt]
synonym: "Andersen syndrome" [UniProt]
synonym: "Andersen-Tawil syndrome" [UniProt]
synonym: "ATS" [UniProt]
synonym: "Periodic paralysis, potassium-sensitive cardiodysrhythmic type" [UniProt]
xref: MedGen:C1563715
xref: MeSH:D050030
xref: MIM:170390 "phenotype"
[Term]
id: DI-00686
name: Long QT syndrome 9
def: "A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy." []
xref: MedGen:C2678485
xref: MeSH:D008133
xref: MIM:611818 "phenotype"
[Term]
id: DI-00687
name: Long QT syndrome 10
def: "A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy." []
xref: MedGen:C2678484
xref: MeSH:D008133
xref: MIM:611819 "phenotype"
[Term]
id: DI-00688
name: Long QT syndrome 11
def: "A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy." []
xref: MedGen:C2678483
xref: MeSH:D008133
xref: MIM:611820 "phenotype"
[Term]
id: DI-00689
name: Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis
def: "An X-linked renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. LMWPHN is a slowly progressive disorder. Patients tend to have hypercalciuric nephrocalcinosis without rickets or renal failure." []
xref: MedGen:C1839874
xref: MeSH:D015499
xref: MIM:308990 "phenotype"
[Term]
id: DI-00690
name: Lymphedema-distichiasis syndrome
def: "An autosomal dominant disorder characterized by primary limb lymphedema associated with distichiasis (double rows of eyelashes, with extra eyelashes growing from the Meibomian gland orifices). Swelling of the extremities, due to altered lymphatic flow, usually appears in late childhood or puberty. Most affected individuals have ocular findings including corneal irritation, recurrent conjunctivitis, and photophobia. Drooping of the upper eyelid (ptosis) is a variable feature of the lymphedema-distichiasis syndrome, occurring in about 30% of patients." []
synonym: "Lymphedema with distichiasis" [UniProt]
xref: MedGen:C0265345
xref: MedGen:C2675066
xref: MeSH:D008209
xref: MIM:153400 "phenotype"
[Term]
id: DI-00691
name: Lymphedema-yellow nails
def: "A disorder characterized by yellow, dystrophic, thick and slowly growing nails, associated with lymphedema and respiratory involvement. Lymphedema occurs more often in the lower limbs. It can appear at birth or later in life. Onset generally follows the onset of ungual abnormalities." []
synonym: "Lymphedema and yellow nails" [UniProt]
synonym: "Yellow nail syndrome" [UniProt]
synonym: "YNS" [UniProt]
xref: MedGen:C0221348
xref: MeSH:D008209
xref: MIM:153300 "phenotype"
[Term]
id: DI-00692
name: Lymphatic malformation 1
def: "A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM1 is an autosomal dominant form with variable expression and severity. Onset is usually at birth or in early childhood but can occur later. Affected individuals manifest lymphedema, predominantly in the lower limbs, and hypoplasia of lymphatic vessels. Additional features are hemangioma and nail dysplasia or papillomatosis." []
synonym: "LMPH1A" [UniProt]
synonym: "Lymphedema early-onset" [UniProt]
synonym: "Lymphedema hereditary type IA" [UniProt]
synonym: "Lymphedema, hereditary, 1A" [UniProt]
synonym: "Milroy disease" [UniProt]
synonym: "Nonne-Milroy lymphedema" [UniProt]
synonym: "PCL" [UniProt]
synonym: "Primary congenital lymphedema" [UniProt]
xref: MedGen:C1704423
xref: MeSH:D008209
xref: MIM:153100 "phenotype"
[Term]
id: DI-00693
name: Lymphedema, hereditary, 2
def: "A chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections, and physical impairment." []
synonym: "Late-onset lymphedema" [UniProt]
synonym: "Lymphedema praecox" [UniProt]
synonym: "Lymphedema, hereditary, II" [UniProt]
synonym: "Lymphedema, late-onset" [UniProt]
synonym: "Meige disease" [UniProt]
synonym: "Meige lymphedema" [UniProt]
xref: MedGen:C0238261
xref: MeSH:D008209
xref: MIM:153200 "phenotype"
[Term]
id: DI-00694
name: Lymphoproliferative syndrome, X-linked, 1
def: "A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Symptoms include severe or fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and malignant lymphoma." []
synonym: "Duncan disease" [UniProt]
synonym: "IMD5" [UniProt]
synonym: "Immunodeficiency 5" [UniProt]
synonym: "Purtilo syndrome" [UniProt]
synonym: "X-linked lymphoproliferative disease" [UniProt]
synonym: "X-linked progressive combined variable immunodeficiency" [UniProt]
synonym: "XLPD" [UniProt]
xref: MedGen:C0549463
xref: MedGen:C1868674
xref: MeSH:D008232
xref: MIM:308240 "phenotype"
[Term]
id: DI-00695
name: Lymphoproliferative syndrome, X-linked, 2
def: "A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Symptoms include severe or fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and malignant lymphoma." []
synonym: "XIAP deficiency" [UniProt]
xref: MedGen:C1845076
xref: MeSH:D008232
xref: MIM:300635 "phenotype"
[Term]
id: DI-00697
name: Major depressive disorder
def: "A common psychiatric disorder. It is a complex trait characterized by one or more major depressive episodes without a history of manic, mixed, or hypomanic episodes. A major depressive episode is characterized by at least 2 weeks during which there is a new onset or clear worsening of either depressed mood or loss of interest or pleasure in nearly all activities. Four additional symptoms must also be present including changes in appetite, weight, sleep, and psychomotor activity; decreased energy; feelings of worthlessness or guilt; difficulty thinking, concentrating, or making decisions; or recurrent thoughts of death or suicidal ideation, plans, or attempts. The episode must be accompanied by distress or impairment in social, occupational, or other important areas of functioning." []
synonym: "SAD" [UniProt]
synonym: "Seasonal affective disorder" [UniProt]
synonym: "Unipolar depression" [UniProt]
xref: MedGen:C0041696
xref: MedGen:C0085159
xref: MedGen:C1269683
xref: MeSH:D003865
xref: MIM:608516 "phenotype"
[Term]
id: DI-00698
name: Mal de Meleda
def: "A rare autosomal recessive skin disorder, characterized by diffuse transgressive palmoplantar keratoderma with keratotic lesions extending onto the dorsa of the hands and the feet (transgrediens). Patients may have hyperhidrosis. Other features include perioral erythema, lichenoid plaques on the knees and the elbows, and nail abnormalities." []
synonym: "Keratosis palmoplantaris transgradiens of Siemens" [UniProt]
synonym: "Meleda disease" [UniProt]
synonym: "Palmoplantar keratoderma, Gamborg Nielsen type" [UniProt]
synonym: "Palmoplantar keratoderma, Norrbotten recessive type" [UniProt]
synonym: "PPKGN" [UniProt]
synonym: "PPKNR" [UniProt]
xref: MedGen:C0025221
xref: MeSH:D007645
xref: MIM:248300 "phenotype"
[Term]
id: DI-00699
name: Marfan syndrome
def: "A hereditary disorder of connective tissue that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with Marfan syndrome, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in most of the patients and is almost always bilateral. The leading cause of premature death is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Neonatal Marfan syndrome is the most severe form resulting in death from cardiorespiratory failure in the first few years of life." []
synonym: "Marfan syndrome type 1" [UniProt]
synonym: "MFS1" [UniProt]
xref: MedGen:C0024796
xref: MeSH:D008382
xref: MIM:154700 "phenotype"
[Term]
id: DI-00700
name: Meckel syndrome 1
def: "A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly." []
synonym: "Dysencephalia splanchnocystica" [UniProt]
synonym: "Gruber syndrome" [UniProt]
synonym: "Meckel-Gruber syndrome" [UniProt]
synonym: "MES" [UniProt]
xref: MedGen:C0265215
xref: MedGen:CN077329
xref: MeSH:D002925
xref: MeSH:D004677
xref: MeSH:D007690
xref: MIM:249000 "phenotype"
[Term]
id: DI-00701
name: Meckel syndrome 3
def: "A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly." []
xref: MedGen:C1846357
xref: MeSH:D002925
xref: MeSH:D004677
xref: MeSH:D007690
xref: MIM:607361 "phenotype"
[Term]
id: DI-00702
name: Meckel syndrome 4
def: "A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly." []
xref: MedGen:C1970161
xref: MedGen:C1970162
xref: MeSH:D002925
xref: MeSH:D004677
xref: MeSH:D007690
xref: MIM:611134 "phenotype"
[Term]
id: DI-00703
name: Meckel syndrome 5
def: "A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly." []
xref: MedGen:C1969052
xref: MeSH:D002925
xref: MeSH:D004677
xref: MeSH:D007690
xref: MIM:611561 "phenotype"
[Term]
id: DI-00704
name: Meckel syndrome 6
def: "A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly." []
xref: MedGen:C2676790
xref: MeSH:D002925
xref: MeSH:D004677
xref: MeSH:D007690
xref: MIM:612284 "phenotype"
[Term]
id: DI-00706
name: Menkes disease
def: "An X-linked recessive disorder of copper metabolism characterized by generalized copper deficiency. MNKD results in progressive neurodegeneration and connective-tissue disturbances: focal cerebral and cerebellar degeneration, early growth retardation, peculiar hair, hypopigmentation, cutis laxa, vascular complications and death in early childhood. The clinical features result from the dysfunction of several copper-dependent enzymes. A mild form of the disease has been described, in which cerebellar ataxia and moderate developmental delay predominate." []
synonym: "Kinky hair disease" [UniProt]
synonym: "Menkes syndrome" [UniProt]
synonym: "Steely hair disease" [UniProt]
xref: MedGen:C0022716
xref: MeSH:D007706
xref: MIM:309400 "phenotype"
[Term]
id: DI-00707
name: MASA syndrome
def: "An X-linked recessive syndrome with a highly variable clinical spectrum. Main clinical features include spasticity and hyperreflexia of lower limbs, shuffling gait, intellectual disability, aphasia and adducted thumbs. The features of spasticity have been referred to as complicated spastic paraplegia type 1 (SPG1). Some patients manifest corpus callosum hypoplasia and hydrocephalus. Inter- and intrafamilial variability is very wide, such that patients with hydrocephalus, MASA, SPG1, and agenesis of corpus callosum can be present within the same family." []
synonym: "Corpus callosum hypoplasia-psychomotor retardation, adducted thumbs-spastic paraparesis-hydrocephalus" [UniProt]
synonym: "CRASH" [UniProt]
xref: MedGen:C0795953
xref: MeSH:D008607
xref: MeSH:D010264
xref: MIM:303350 "phenotype"
[Term]
id: DI-00709
name: Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Affected individuals can manifest a severe phenotype consisting of severe intellectual deficit, congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia. A milder phenotype consists of intellectual disability alone or associated with nystagmus." []
synonym: "Intellectual developmental disorder, X-linked, syndromic, Najm type" [UniProt]
synonym: "MICPCH syndrome" [UniProt]
synonym: "MRXSNA" [UniProt]
xref: MedGen:C2677903
xref: MedGen:C2749054
xref: MedGen:C2749055
xref: MeSH:D038901
xref: MIM:300749 "phenotype"
[Term]
id: DI-00710
name: Intellectual developmental disorder, autosomal dominant 1
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:C1969562
xref: MedGen:C3277090
xref: MeSH:D008607
xref: MIM:156200 "phenotype"
[Term]
id: DI-00711
name: Intellectual developmental disorder, autosomal dominant 3
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:C2675488
xref: MeSH:D008607
xref: MIM:612580 "phenotype"
[Term]
id: DI-00712
name: Intellectual developmental disorder, autosomal dominant 4
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:C2675487
xref: MeSH:D008607
xref: MIM:612581 "phenotype"
[Term]
id: DI-00713
name: Intellectual developmental disorder, autosomal dominant 5
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD5 patients show global developmental delay with delayed motor development, hypotonia, moderate-to-severe intellectual disability, and severe language impairment. Epilepsy and autism can be present in some patients." []
xref: MedGen:C2675473
xref: MeSH:D008607
xref: MIM:612621 "phenotype"
[Term]
id: DI-00714
name: Intellectual developmental disorder, autosomal recessive 1
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:C1855304
xref: MeSH:D008607
xref: MIM:249500 "phenotype"
[Term]
id: DI-00715
name: Intellectual developmental disorder, autosomal recessive 2
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT2 patients display mild intellectual disability with a standard IQ ranged from 50 to 70. IQ scores are lower in males than females. Developmental milestones are mildly delayed. There are no dysmorphic or autistic features." []
synonym: "MRT2A" [UniProt]
xref: MedGen:C1843942
xref: MeSH:D008607
xref: MIM:607417 "phenotype"
[Term]
id: DI-00716
name: Intellectual developmental disorder, autosomal recessive 3
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:C1838023
xref: MeSH:D008607
xref: MIM:608443 "phenotype"
[Term]
id: DI-00717
name: Intellectual developmental disorder, autosomal recessive 7
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
synonym: "MRT22" [UniProt]
xref: MedGen:C1970197
xref: MeSH:D008607
xref: MIM:611093 "phenotype"
[Term]
id: DI-00718
name: Intellectual developmental disorder, X-linked, syndromic, Claes-Jensen type
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSCJ patients manifest intellectual disability associated with variable features such as slowly progressive spastic paraplegia, seizures, facial dysmorphism." []
synonym: "MRXSJ" [UniProt]
xref: MedGen:C1845243
xref: MeSH:D038901
xref: MIM:300534 "phenotype"
[Term]
id: DI-00719
name: Intellectual developmental disorder, X-linked, syndromic, Billuart type
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSBL patients manifest intellectual disability associated with cerebellar hypoplasia and distinctive facial dysmorphism." []
synonym: "MRX60" [UniProt]
xref: MedGen:C1845366
xref: MeSH:D038901
xref: MIM:300486 "phenotype"
[Term]
id: DI-00720
name: Intellectual developmental disorder, X-linked, syndromic, Turner type
def: "An X-linked neurodevelopmental disorder with highly variable clinical manifestations. Common features consist of moderate to profound intellectual disability, delayed or absent speech, short stature with small hands and feet, and non-specific but recurrent dysmorphic facial features such as macrocephaly, microcephaly, a broad nasal tip, deep set eyes, epicanthic folds, short palpebral fissures and a short philtrum. Patients may manifest other features, such as hypotonia, seizures and delayed bone age." []
synonym: "Brooks-Wisniewski-Brown syndrome" [UniProt]
synonym: "JMS" [UniProt]
synonym: "Juberg-Marsidi syndrome" [UniProt]
synonym: "MRXSBWB" [UniProt]
xref: MedGen:C2678046
xref: MeSH:D038901
xref: MIM:309590 "phenotype"
[Term]
id: DI-00722
name: Intellectual developmental disorder, X-linked, syndromic 13
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS13 patients manifest intellectual disability associated with other variable features such as spasticity, episodes of manic depressive psychosis, increased tone and macroorchidism." []
synonym: "MRX16" [UniProt]
synonym: "MRX79" [UniProt]
synonym: "MRXPPM" [UniProt]
synonym: "PPMX" [UniProt]
xref: MedGen:C0796222
xref: MedGen:C1848211
xref: MedGen:C1968550
xref: MedGen:C1968551
xref: MedGen:C1968552
xref: MeSH:D038901
xref: MIM:300055 "phenotype"
[Term]
id: DI-00723
name: Intellectual disability-hypotonic facies syndrome, X-linked, 1
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSHF1 features include severe intellectual disability, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women. Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects." []
synonym: "Carpenter-Waziri syndrome" [UniProt]
synonym: "Chudley-Lowry syndrome" [UniProt]
synonym: "CWS" [UniProt]
synonym: "Holmes-Gang syndrome" [UniProt]
synonym: "Intellectual disability X-linked with growth retardation deafness and microgenitalism" [UniProt]
synonym: "JMS" [UniProt]
synonym: "Juberg-Marsidi syndrome" [UniProt]
synonym: "SFM1" [UniProt]
synonym: "SFMS" [UniProt]
synonym: "Smith-Fineman-Myers syndrome 1" [UniProt]
synonym: "XLMR-hypotonic facies syndrome" [UniProt]
xref: MedGen:C0796003
xref: MeSH:D038901
xref: MIM:309580 "phenotype"
[Term]
id: DI-00724
name: Intellectual developmental disorder, X-linked 29
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic intellectual disability presents with associated physical, neurological and/or psychiatric manifestations." []
synonym: "MRX29" [UniProt]
synonym: "MRX32" [UniProt]
synonym: "MRX33" [UniProt]
synonym: "MRX38" [UniProt]
synonym: "MRX43" [UniProt]
synonym: "MRX52" [UniProt]
synonym: "MRX54" [UniProt]
synonym: "MRX76" [UniProt]
synonym: "MRX87" [UniProt]
xref: MedGen:C0796244
xref: MeSH:D038901
xref: MIM:300419 "phenotype"
[Term]
id: DI-00726
name: Intellectual developmental disorder, X-linked 21
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic intellectual disability presents with associated physical, neurological and/or psychiatric manifestations." []
synonym: "MRX21" [UniProt]
synonym: "MRX34" [UniProt]
xref: MedGen:C0796227
xref: MedGen:C0796241
xref: MeSH:D038901
xref: MIM:300143 "phenotype"
[Term]
id: DI-00727
name: Intellectual developmental disorder, X-linked 30
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic intellectual disability presents with associated physical, neurological and/or psychiatric manifestations." []
synonym: "MRX30" [UniProt]
synonym: "MRX47" [UniProt]
xref: MedGen:C0796237
xref: MedGen:C0796249
xref: MeSH:D038901
xref: MIM:300558 "phenotype"
[Term]
id: DI-00728
name: Intellectual developmental disorder, X-linked 41
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations." []
synonym: "MRX41" [UniProt]
synonym: "MRX48" [UniProt]
xref: MedGen:CN069590
xref: MeSH:D038901
xref: MIM:300849 "phenotype"
[Term]
id: DI-00729
name: Intellectual developmental disorder, X-linked 9
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations." []
synonym: "MRX44" [UniProt]
synonym: "MRX9" [UniProt]
xref: MedGen:C0796215
xref: MeSH:D038901
xref: MIM:309549 "phenotype"
[Term]
id: DI-00730
name: Intellectual developmental disorder, X-linked 45
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:C1845333
xref: MeSH:D038901
xref: MIM:300498 "phenotype"
[Term]
id: DI-00731
name: Intellectual developmental disorder, X-linked 46
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:C1845526
xref: MeSH:D038901
xref: MIM:300436 "phenotype"
[Term]
id: DI-00733
name: Intellectual developmental disorder, X-linked 58
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked intellectual disability, while syndromic intellectual disability presents with associated physical, neurological and/or psychiatric manifestations." []
synonym: "MRX58" [UniProt]
xref: MedGen:C1846174
xref: MeSH:D038901
xref: MIM:300210 "phenotype"
[Term]
id: DI-00734
name: Intellectual developmental disorder, X-linked 63
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked intellectual disability, while syndromic forms presents with associated physical, neurological and/or psychiatric manifestations." []
synonym: "MRX63" [UniProt]
synonym: "MRX68" [UniProt]
xref: MedGen:C1845672
xref: MeSH:D038901
xref: MIM:300387 "phenotype"
[Term]
id: DI-00735
name: Intellectual developmental disorder, X-linked 89
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:C1839082
xref: MedGen:CN069343
xref: MeSH:D038901
xref: MIM:300848 "phenotype"
[Term]
id: DI-00736
name: Intellectual developmental disorder, X-linked 90
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked intellectual disability, while syndromic forms presents with associated physical, neurological and/or psychiatric manifestations." []
synonym: "MRX90" [UniProt]
xref: MedGen:C3275443
xref: MedGen:CN069586
xref: MeSH:D038901
xref: MIM:300850 "phenotype"
[Term]
id: DI-00737
name: Intellectual developmental disorder, X-linked 91
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:C1845142
xref: MeSH:D038901
xref: MIM:300577 "phenotype"
[Term]
id: DI-00738
name: Intellectual developmental disorder, X-linked 92
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:C1845144
xref: MeSH:D038901
xref: MIM:300851 "phenotype"
[Term]
id: DI-00739
name: Intellectual developmental disorder, X-linked, syndromic, Wu type
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSW patients have moderate intellectual disability, and additional variable features such as macrocephaly, seizures, myoclonic jerks, autistic behavior, asthenic body habitus, distal muscle weakness and hyporeflexia." []
synonym: "MRX94" [UniProt]
synonym: "MRXS29" [UniProt]
xref: MedGen:C2678051
xref: MeSH:D038901
xref: MIM:300699 "phenotype"
[Term]
id: DI-00740
name: Intellectual developmental disorder, X-linked 95
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:C2678034
xref: MeSH:D038901
xref: MIM:300716 "phenotype"
[Term]
id: DI-00741
name: Intellectual developmental disorder, X-linked, syndromic, Hedera type
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSH patients manifest mild to moderate intellectual disability associated with epilepsy, delays in motor milestones and speech acquisition in infancy." []
synonym: "MRXE" [UniProt]
xref: MedGen:C1845543
xref: MeSH:D038901
xref: MIM:300423 "phenotype"
[Term]
id: DI-00742
name: 3-methylcrotonoyl-CoA carboxylase 1 deficiency
def: "An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3- methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency." []
synonym: "3-methylcrotonylglycinuria type I" [UniProt]
synonym: "MCC1 deficiency" [UniProt]
synonym: "MCCD type 1" [UniProt]
synonym: "MCGI" [UniProt]
synonym: "Methylcrotonylglycinuria type I" [UniProt]
xref: MedGen:C0268600
xref: MedGen:CN028786
xref: MeSH:D000592
xref: MIM:210200 "phenotype"
[Term]
id: DI-00743
name: 3-methylcrotonoyl-CoA carboxylase 2 deficiency
def: "An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3- methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency." []
synonym: "3-methylcrotonylglycinuria type II" [UniProt]
synonym: "MCC2 deficiency" [UniProt]
synonym: "MCGII" [UniProt]
synonym: "Methylcrotonylglycinuria type II" [UniProt]
xref: MedGen:C1859499
xref: MeSH:D000592
xref: MIM:210210 "phenotype"
[Term]
id: DI-00744
name: Methylmalonic aciduria and homocystinuria, cblC type
def: "An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood." []
synonym: "Methylmalonic acidemia and homocystinuria cblC type" [UniProt]
synonym: "Methylmalonic aciduria and homocystinuria vitamin B12-responsive" [UniProt]
synonym: "Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase" [UniProt]
xref: MedGen:C1848561
xref: MeSH:D006712
xref: MeSH:D008661
xref: MIM:277400 "phenotype"
[Term]
id: DI-00745
name: Methylmalonic aciduria and homocystinuria, cblD type
def: "An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include developmental delay, hyotonia, intellectual disability, seizures, megaloblastic anemia. Some patients manifest combined methylmalonic aciduria and homocystinuria (referred to as cblD original), some have only isolated homocystinuria (cblD variant 1), and others have only methylmalonic aciduria (cblD variant 2)." []
synonym: "Homocystinuria cblD variant 1" [UniProt]
synonym: "Methylmalonic acidemia and homocystinuria cblD type" [UniProt]
synonym: "Methylmalonic aciduria and homocystinuria cblD original" [UniProt]
synonym: "Methylmalonic aciduria and homocystinuria cblD-combined" [UniProt]
synonym: "Methylmalonic aciduria cblD variant 2" [UniProt]
xref: MedGen:C1848552
xref: MedGen:C1848553
xref: MedGen:C1848554
xref: MedGen:C2678262
xref: MedGen:C2678263
xref: MeSH:D006712
xref: MeSH:D008661
xref: MIM:277410 "phenotype"
[Term]
id: DI-00746
name: Methylmalonic aciduria and homocystinuria, cblF type
def: "An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). It is due to accumulation of free cobalamin in lysosomes, thus hindering its conversion to cofactors. Clinical features include developmental delay, stomatitis, glossitis, seizures and methylmalonic aciduria responsive to vitamin B12." []
synonym: "cblF" [UniProt]
synonym: "Cobalamin F disease" [UniProt]
synonym: "Methylcobalamin deficiency tape F" [UniProt]
synonym: "Methylmalonic acidemia and homocystinuria cblF type" [UniProt]
synonym: "Methylmalonic aciduria due to vitamin B12-release defect" [UniProt]
synonym: "Vitamin B12 lysosomal release defect" [UniProt]
synonym: "Vitamin B12 storage defect" [UniProt]
xref: MedGen:C1848578
xref: MeSH:D006712
xref: MeSH:D008661
xref: MIM:277380 "phenotype"
[Term]
id: DI-00747
name: Methylmalonic aciduria type cblA
def: "A disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin." []
synonym: "Methylmalonic aciduria type A" [UniProt]
synonym: "Vitamin B12 responsive methylmalonic acidemia type cbl A" [UniProt]
synonym: "Vitamin B12 responsive methylmalonic aciduria type cbl A" [UniProt]
xref: MedGen:C1855109
xref: MeSH:D008661
xref: MIM:251100 "phenotype"
[Term]
id: DI-00748
name: Methylmalonic aciduria type cblB
def: "A disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin." []
synonym: "Methylmalonic aciduria type B" [UniProt]
synonym: "Vitamin B12 responsive methylmalonic acidemia type cbl B" [UniProt]
synonym: "Vitamin B12 responsive methylmalonic aciduria type cbl B" [UniProt]
xref: MedGen:C1855102
xref: MeSH:D008661
xref: MIM:251110 "phenotype"
[Term]
id: DI-00749
name: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
def: "An often fatal disorder of organic acid metabolism. Common clinical features include lethargy, vomiting, failure to thrive, hypotonia, neurological deficit and early death. Two forms of the disease are distinguished by the presence (mut-) or absence (mut0) of residual enzyme activity. Mut0 patients have more severe neurological manifestations of the disease than do MUT- patients. MMAM is unresponsive to vitamin B12 therapy." []
synonym: "Methylmalonic aciduria type mut" [UniProt]
synonym: "Methylmalonicaciduria due to methylmalonyl-CoA mutase deficiency" [UniProt]
synonym: "Methylmalonicaciduria vitamin B12 unresponsive" [UniProt]
xref: MedGen:C1855114
xref: MedGen:C1855115
xref: MedGen:C1855116
xref: MeSH:D008661
xref: MIM:251000 "phenotype"
[Term]
id: DI-00750
name: Microcephaly, Amish type
def: "A disorder characterized by severe congenital microcephaly and severe 2-ketoglutaric aciduria leading to death within the first year." []
synonym: "Amish lethal microcephaly" [UniProt]
xref: MedGen:C1846648
xref: MeSH:D008831
xref: MIM:607196 "phenotype"
[Term]
id: DI-00751
name: Microcephaly 1, primary, autosomal recessive
def: "A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have mild to severe intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. Some MCHP1 patients also present growth retardation, short stature, and misregulated chromosome condensation as indicated by a high number of prophase-like cells detected in routine cytogenetic preparations and poor-quality metaphase G-banding." []
synonym: "Microcephaly vera" [UniProt]
synonym: "PCC syndrome" [UniProt]
synonym: "Premature chromosome condensation syndrome" [UniProt]
synonym: "True microcephaly" [UniProt]
xref: MedGen:C1855081
xref: MeSH:D008831
xref: MIM:251200 "phenotype"
[Term]
id: DI-00752
name: Microcephaly 5, primary, autosomal recessive
def: "A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have mild to severe intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder." []
synonym: "Microcephaly primary autosomal recessive 5 with simplified gyral pattern" [UniProt]
xref: MedGen:C1837501
xref: MeSH:D008831
xref: MIM:608716 "phenotype"
[Term]
id: DI-00753
name: Microcephaly 7, primary, autosomal recessive
def: "A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have mild to severe intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder." []
xref: MedGen:C2675187
xref: MeSH:D008831
xref: MIM:612703 "phenotype"
[Term]
id: DI-00754
name: Microphthalmia, isolated, 5
def: "A disorder characterized by posterior microphthalmia, retinitis pigmentosa, foveoschisis and optic disk drusen. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present." []
synonym: "Microphthalmia MFRP-related" [UniProt]
synonym: "Posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disk drusen" [UniProt]
xref: MedGen:C1970236
xref: MeSH:D008850
xref: MIM:611040 "phenotype"
[Term]
id: DI-00755
name: Microphthalmia, isolated, 2
def: "A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present." []
synonym: "Isolated clinical anophthalmia" [UniProt]
xref: MedGen:C1864720
xref: MeSH:D000853
xref: MeSH:D008850
xref: MIM:610093 "phenotype"
[Term]
id: DI-00756
name: Microphthalmia, syndromic 16
def: "An autosomal recessive disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Some patients exhibit developmental delay and intellectual disability or autism." []
synonym: "MCOP3" [UniProt]
synonym: "Microphthalmia, isolated, 3" [UniProt]
xref: MedGen:C1970237
xref: MeSH:D008850
xref: MIM:611038 "phenotype"
[Term]
id: DI-00757
name: Optic disk anomalies with retinal and/or macular dystrophy
def: "An ocular disorder characterized by optic nerve dysplasia, optic disk anomalies, chorioretinal dystrophy and macular atrophy. Some patients have microphthalmia." []
xref: MedGen:C1859311
xref: MeSH:D008850
xref: MIM:212550 "phenotype"
[Term]
id: DI-00759
name: Microphthalmia/Coloboma 3
def: "A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure)." []
synonym: "Colobomatous microphthalmia 3" [UniProt]
synonym: "Microphthalmia with coloboma 3" [UniProt]
synonym: "Microphthalmia, isolated, with coloboma, 3" [UniProt]
xref: MedGen:C1864721
xref: MeSH:D003103
xref: MeSH:D008850
xref: MIM:610092 "phenotype"
[Term]
id: DI-00760
name: Microphthalmia/Coloboma 5
def: "A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure)." []
synonym: "Colobomatous microphthalmia 5" [UniProt]
synonym: "Microphthalmia, isolated, with coloboma, 5" [UniProt]
xref: MedGen:C1968843
xref: MeSH:D003103
xref: MeSH:D008850
xref: MIM:611638 "phenotype"
[Term]
id: DI-00761
name: Microphthalmia, syndromic, 2
def: "A very rare multiple congenital anomaly syndrome characterized by eye anomalies (congenital cataract, microphthalmia, or secondary glaucoma), facial abnormalities (long narrow face, high nasal bridge, pointed nose with cartilages separated at the tip, cleft palate, or submucous cleft palate), cardiac anomalies (atrial septal defect, ventricular septal defect, or floppy mitral valve) and dental abnormalities (canine radiculomegaly, delayed dentition, oligodontia, persistent primary teeth, or variable root length). Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities." []
synonym: "Marashi-Gorlin syndrome" [UniProt]
synonym: "Microphthalmia, cataracts, radiculomegaly and septal heart defects" [UniProt]
synonym: "Oculo-facio-cardio-dental syndrome" [UniProt]
synonym: "Oculofaciocardiodental syndrome" [UniProt]
synonym: "OFCD syndrome" [UniProt]
xref: MedGen:C1846265
xref: MedGen:C2931601
xref: MeSH:D008850
xref: MIM:300166 "phenotype"
[Term]
id: DI-00762
name: Microphthalmia, syndromic, 3
def: "A disease characterized by the rare association of malformations including uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with trachoesophageal fistula. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities." []
synonym: "AEG syndrome" [UniProt]
synonym: "Anophthalmia-esophageal-genital syndrome" [UniProt]
synonym: "Anophthalmia/microphthalmia-esophageal atresia" [UniProt]
synonym: "Microphthalmia and esophageal atresia syndrome" [UniProt]
xref: MedGen:C1859773
xref: MedGen:C1859774
xref: MeSH:D004933
xref: MeSH:D008850
xref: MIM:206900 "phenotype"
[Term]
id: DI-00763
name: Microphthalmia, syndromic, 5
def: "Patients manifest unilateral or bilateral microphthalmia/clinical anophthalmia and variable additional features including pituitary dysfunction, coloboma, microcornea, cataract, retinal dystrophy, hypoplasia or agenesis of the optic nerve, agenesis of the corpus callosum, developmental delay, joint laxity, hypotonia, and seizures. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities." []
xref: MedGen:C1864690
xref: MedGen:C3149814
xref: MeSH:D008850
xref: MIM:610125 "phenotype"
[Term]
id: DI-00764
name: Microphthalmia, syndromic, 6
def: "A disease characterized by microphthalmia/anophthalmia associated with facial, genital, skeletal, neurologic and endocrine anomalies. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities." []
synonym: "Clinical anophthalmia with micrognathia, malformed ears, digital anomalies and abnormal external genitalia" [UniProt]
synonym: "Microphthalmia and pituitary anomalies" [UniProt]
synonym: "Microphthalmia with brain and digit developmental anomalies" [UniProt]
xref: MedGen:C1864689
xref: MeSH:D008850
xref: MIM:607932 "phenotype"
[Term]
id: DI-00765
name: Linear skin defects with multiple congenital anomalies 1
def: "A disorder characterized by dermal, ocular, neurological and cardiac abnormalities. LSDMCA1 main features are unilateral or bilateral microphthalmia, linear skin defects in affected females, and in utero lethality for males. Skin defects are limited to the face and neck, consisting of areas of aplastic skin that heal with age to form hyperpigmented areas. Additional features in female patients include agenesis of the corpus callosum, sclerocornea, chorioretinal abnormalities, infantile seizures, congenital heart defect, intellectual disability, and diaphragmatic hernia. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities." []
synonym: "MCOPS7" [UniProt]
synonym: "Microphthalmia with linear skin defects" [UniProt]
synonym: "Microphthalmia, dermal aplasia and sclerocornea" [UniProt]
synonym: "Microphthalmia, syndromic, 7" [UniProt]
synonym: "MIDAS syndrome" [UniProt]
synonym: "MLS" [UniProt]
xref: MedGen:C0796070
xref: MeSH:D008850
xref: MeSH:D012868
xref: MIM:309801 "phenotype"
[Term]
id: DI-00766
name: Microphthalmia, syndromic, 8
def: "A very rare congenital syndrome characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities." []
synonym: "Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism" [UniProt]
synonym: "MMEP" [UniProt]
synonym: "MMEP syndrome" [UniProt]
synonym: "Viljoen-Smart syndrome" [UniProt]
xref: MedGen:C1832440
xref: MeSH:D008850
xref: MIM:601349 "phenotype"
[Term]
id: DI-00767
name: Microphthalmia, syndromic, 9
def: "A rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities." []
synonym: "Anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm" [UniProt]
synonym: "Anophthalmia/microphthalmia and pulmonary hypoplasia" [UniProt]
synonym: "Matthew-Wood syndrome" [UniProt]
synonym: "PDAC" [UniProt]
synonym: "PMD" [UniProt]
synonym: "Pulmonary agenesis, microphthalmia, and diaphragmatic defect" [UniProt]
synonym: "Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect" [UniProt]
synonym: "Spear syndrome" [UniProt]
xref: MedGen:C1832661
xref: MeSH:D008850
xref: MIM:601186 "phenotype"
[Term]
id: DI-00768
name: Microphthalmia with cataracts and iris abnormalities
def: "A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataract and other abnormalities like cataract may also be present." []
xref: MedGen:C1864722
xref: MeSH:D008850
xref: MIM:610092 "phenotype"
[Term]
id: DI-00769
name: Miller-Dieker lissencephaly syndrome
def: "A contiguous gene deletion syndrome of chromosome 17p13.3, characterized by classical lissencephaly and distinct facial features. Additional congenital malformations can be part of the condition." []
xref: MedGen:C0265219
xref: MeSH:D054221
xref: MIM:247200 "phenotype"
[Term]
id: DI-00770
name: Mucopolysaccharidosis 1H
def: "A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe intellectual disability. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age." []
synonym: "Alpha-L-iduronidase deficiency" [UniProt]
synonym: "Hurler syndrome" [UniProt]
synonym: "Hurler's syndrome" [UniProt]
synonym: "MPS IH" [UniProt]
synonym: "MPS-IH" [UniProt]
synonym: "Mucopolysaccharidosis type IH" [UniProt]
xref: MedGen:C0086795
xref: MeSH:D008059
xref: MIM:607014 "phenotype"
[Term]
id: DI-00771
name: Mucopolysaccharidosis 1H/S
def: "A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility." []
synonym: "Alpha-L-iduronidase deficiency" [UniProt]
synonym: "Hurler-Scheie syndrome" [UniProt]
synonym: "MPS-IH/S" [UniProt]
synonym: "Mucopolysaccharidosis type IH/S" [UniProt]
xref: MedGen:C0086431
xref: MeSH:D008059
xref: MIM:607015 "phenotype"
[Term]
id: DI-00772
name: Mucopolysaccharidosis 1S
def: "A mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding." []
synonym: "Alpha-L-iduronidase deficiency" [UniProt]
synonym: "MPS IS" [UniProt]
synonym: "MPS V" [UniProt]
synonym: "MPS-IS" [UniProt]
synonym: "Mucopolysaccharidosis type IS" [UniProt]
synonym: "Mucopolysaccharidosis type V" [UniProt]
synonym: "Scheie syndrome" [UniProt]
xref: MedGen:C0026708
xref: MeSH:D008059
xref: MIM:607016 "phenotype"
[Term]
id: DI-00773
name: Mucopolysaccharidosis 2
def: "An X-linked lysosomal storage disease characterized by intracellular accumulation of heparan sulfate and dermatan sulfate and their excretion in urine. Most children with MPS2 have a severe form with early somatic abnormalities including skeletal deformities, hepatosplenomegaly, and progressive cardiopulmonary deterioration. A prominent feature is neurological damage that presents as developmental delay and hyperactivity but progresses to intellectual disability and dementia. They die before 15 years of age, usually as a result of obstructive airway disease or cardiac failure. In contrast, those with a mild form of MPS2 may survive into adulthood, with attenuated somatic complications and often without intellectual disability." []
synonym: "Hunter syndrome" [UniProt]
synonym: "IDS deficiency" [UniProt]
synonym: "Iduronate 2-sulfatase deficiency" [UniProt]
synonym: "MPS II" [UniProt]
synonym: "Mucopolysaccharidosis type II" [UniProt]
synonym: "SIDS deficiency" [UniProt]
synonym: "Sulfoiduronate sulfatase deficiency" [UniProt]
xref: MedGen:C0026705
xref: MeSH:D016532
xref: MIM:309900 "phenotype"
[Term]
id: DI-00774
name: Mucopolysaccharidosis 3A
def: "A severe form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. MPS3A is characterized by earlier onset, rapid progression of symptoms and shorter survival." []
synonym: "Heparan sulfate sulfatase deficiency" [UniProt]
synonym: "MPS IIIA" [UniProt]
synonym: "Mucopolysaccharidosis type IIIA" [UniProt]
synonym: "Sanfilippo syndrome A" [UniProt]
synonym: "Sulfamidase deficiency" [UniProt]
xref: MedGen:C0086647
xref: MeSH:D009084
xref: MIM:252900 "phenotype"
[Term]
id: DI-00775
name: Mucopolysaccharidosis 3B
def: "A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life." []
synonym: "MPS IIIB" [UniProt]
synonym: "Mucopolysaccharidosis type IIIB" [UniProt]
synonym: "N-acetyl-alpha-D-glucosaminidase deficiency" [UniProt]
synonym: "NAGLU deficiency" [UniProt]
synonym: "Sanfilippo syndrome B" [UniProt]
xref: MedGen:C0086648
xref: MeSH:D009084
xref: MIM:252920 "phenotype"
[Term]
id: DI-00776
name: Mucopolysaccharidosis 3C
def: "A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life." []
synonym: "Acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiency" [UniProt]
synonym: "MPS IIIC" [UniProt]
synonym: "Mucopolysaccharidosis type IIIC" [UniProt]
synonym: "Sanfilippo syndrome C" [UniProt]
xref: MedGen:C0086649
xref: MeSH:D009084
xref: MIM:252930 "phenotype"
[Term]
id: DI-00777
name: Mucopolysaccharidosis 3D
def: "A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life." []
synonym: "MPS IIID" [UniProt]
synonym: "Mucopolysaccharidosis type IIID" [UniProt]
synonym: "N-acetylglucosamine-6-sulfatase deficiency" [UniProt]
synonym: "Sanfilippo D syndrome" [UniProt]
xref: MedGen:C0086650
xref: MeSH:D009084
xref: MIM:252940 "phenotype"
[Term]
id: DI-00778
name: Mucopolysaccharidosis 4A
def: "A form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life." []
synonym: "Galactosamine-6-sulfatase deficiency" [UniProt]
synonym: "GALNS deficiency" [UniProt]
synonym: "Morquio A disease" [UniProt]
synonym: "Morquio syndrome A" [UniProt]
synonym: "Morquio's syndrome A" [UniProt]
synonym: "MPS IVA" [UniProt]
synonym: "Mucopolysaccharidosis type IVA" [UniProt]
xref: MedGen:C0086651
xref: MeSH:D009085
xref: MIM:253000 "phenotype"
[Term]
id: DI-00779
name: Mucopolysaccharidosis 4B
def: "A form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life." []
synonym: "Morquio syndrome B" [UniProt]
synonym: "Morquio's syndrome B" [UniProt]
synonym: "MPS IVB" [UniProt]
synonym: "MPS-IVB" [UniProt]
synonym: "Mucopolysaccharidosis type IVB" [UniProt]
xref: MedGen:C0086652
xref: MeSH:D009085
xref: MIM:253010 "phenotype"
[Term]
id: DI-00780
name: Mucopolysaccharidosis 6
def: "A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPS6 is an autosomal recessive form characterized by intracellular accumulation of dermatan sulfate. Clinical features can include abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly, and cardiac abnormalities." []
synonym: "ARSB deficiency" [UniProt]
synonym: "Arylsulfatase B deficiency" [UniProt]
synonym: "Maroteaux-Lamy syndrome" [UniProt]
synonym: "MPS VI" [UniProt]
synonym: "Mucopolysaccharidosis type VI" [UniProt]
synonym: "N-acetylgalactosamine-4-sulfatase deficiency" [UniProt]
xref: MedGen:C0026709
xref: MedGen:CN068451
xref: MedGen:CN068452
xref: MedGen:CN068453
xref: MeSH:D009087
xref: MIM:253200 "phenotype"
[Term]
id: DI-00781
name: Mucopolysaccharidosis 7
def: "A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPS7 is an autosomal recessive form with a highly variable phenotype, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment." []
synonym: "Beta-glucuronidase deficiency" [UniProt]
synonym: "GUSB deficiency" [UniProt]
synonym: "MPS VII" [UniProt]
synonym: "Mucopolysaccharidosis type VII" [UniProt]
synonym: "Sly syndrome" [UniProt]
xref: MedGen:C0085132
xref: MeSH:D016538
xref: MIM:253220 "phenotype"
[Term]
id: DI-00782
name: Mucopolysaccharidosis 9
def: "A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPS9 is an autosomal recessive form characterized by high hyaluronan concentration in the serum. Clinical features include periarticular soft tissue masses, mild short stature and acetabular erosions, and absence of neurological or visceral involvement." []
synonym: "Hyaluronidase deficiency" [UniProt]
synonym: "MPS IX" [UniProt]
synonym: "Mucopolysaccharidosis type IX" [UniProt]
xref: MedGen:C1291490
xref: MeSH:D009083
xref: MIM:601492 "phenotype"
[Term]
id: DI-00783
name: Muckle-Wells syndrome
def: "A hereditary periodic fever syndrome characterized by fever, chronic recurrent urticaria, arthralgias, progressive sensorineural deafness, and reactive renal amyloidosis. The disease may be severe if generalized reactive amyloidosis occurs." []
synonym: "UDA syndrome" [UniProt]
synonym: "Urticaria-deafness-amyloidosis syndrome" [UniProt]
xref: MedGen:C0268390
xref: MeSH:D056587
xref: MIM:191900 "phenotype"
[Term]
id: DI-00784
name: Muenke syndrome
def: "A condition characterized by premature closure of coronal suture of skull during development (coronal craniosynostosis), which affects the shape of the head and face. It may be uni- or bilateral. When bilateral, it is characterized by a skull with a small antero- posterior diameter (brachycephaly), often with a decrease in the depth of the orbits and hypoplasia of the maxillae. Unilateral closure of the coronal sutures leads to flattening of the orbit on the involved side (plagiocephaly). The intellect is normal. In addition to coronal craniosynostosis some affected individuals show skeletal abnormalities of hands and feet, sensorineural hearing loss, intellectual disability and respiratory insufficiency." []
synonym: "FGFR3-associated coronal synostosis" [UniProt]
synonym: "FGFR3-related craniosynostosis" [UniProt]
synonym: "FGFR3-related isolated coronal synostosis" [UniProt]
synonym: "Muenke non-syndromic coronal craniosynostosis" [UniProt]
xref: MedGen:C1864436
xref: MeSH:D003398
xref: MIM:602849 "phenotype"
[Term]
id: DI-00785
name: Multiple epiphyseal dysplasia 1
def: "A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal." []
xref: MedGen:C1838280
xref: MedGen:C1851537
xref: MedGen:C1851538
xref: MeSH:D010009
xref: MIM:132400 "phenotype"
[Term]
id: DI-00786
name: Multiple epiphyseal dysplasia 2
def: "A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal." []
xref: MedGen:C1838429
xref: MeSH:D010009
xref: MIM:600204 "phenotype"
[Term]
id: DI-00787
name: Multiple epiphyseal dysplasia 3
def: "A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal." []
xref: MedGen:C1832998
xref: MedGen:C3152083
xref: MeSH:D010009
xref: MIM:600969 "phenotype"
[Term]
id: DI-00788
name: Multiple epiphyseal dysplasia 4
def: "A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. Multiple epiphyseal dysplasia type 4 is a recessively inherited form, characterized by early childhood-onset hip dysplasia and recurrent patella dislocation. Short stature is not frequent." []
xref: MedGen:C1847593
xref: MeSH:D010009
xref: MIM:226900 "phenotype"
[Term]
id: DI-00789
name: Multiple epiphyseal dysplasia 5
def: "A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. Multiple epiphyseal dysplasia type 5 is relatively mild and clinically variable. It is primarily characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis." []
xref: MedGen:C1846843
xref: MeSH:D010009
xref: MIM:607078 "phenotype"
[Term]
id: DI-00790
name: Multiple epiphyseal dysplasia with myopia and conductive deafness
def: "A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDMMD is an autosomal dominant disorder characterized by epiphyseal dysplasia associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness." []
xref: MedGen:C1851536
xref: MeSH:D010009
xref: MIM:132450 "phenotype"
[Term]
id: DI-00791
name: Multiple sulfatase deficiency
def: "A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post- translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay." []
synonym: "Mucosulfatidosis" [UniProt]
synonym: "Sulfatidosis juvenile Austin type" [UniProt]
xref: MedGen:C0268263
xref: MedGen:C1720864
xref: MeSH:D052517
xref: MIM:272200 "phenotype"
[Term]
id: DI-00792
name: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3
def: "An autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone lissencephaly, and cerebellar and pontine hypoplasia. Patients present severe congenital myopia, congenital glaucoma, pallor of the optic disks, retinal hypoplasia, intellectual disability, hydrocephalus, abnormal electroencephalograms, generalized muscle weakness and myoclonic jerks. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease." []
synonym: "Muscle-eye-brain disease POMGNT1-related" [UniProt]
synonym: "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3" [UniProt]
synonym: "Walker-Warburg syndrome POMGNT1-related" [UniProt]
xref: MedGen:C0457133
xref: MedGen:C3151519
xref: MeSH:D058494
xref: MIM:253280 "phenotype"
[Term]
id: DI-00793
name: Myokymia isolated 1
def: "A condition characterized by spontaneous involuntary contraction of muscle fiber groups that can be observed as vermiform movement of the overlying skin. Electromyography typically shows continuous motor unit activity with spontaneous oligo- and multiplet-discharges of high intraburst frequency (myokymic discharges). Isolated spontaneous muscle twitches occur in many persons and have no grave significance." []
xref: MedGen:C1834559
xref: MedGen:C2674766
xref: MeSH:D020385
xref: MIM:160120 "phenotype"
[Term]
id: DI-00795
name: Congenital myopathy 3 with rigid spine
def: "An autosomal recessive, slowly progressive muscular disorder apparent from birth or early childhood and characterized by hypotonia, proximal muscle weakness, poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity. Most patients remain ambulatory. Early ventilatory insufficiency may lead to death by respiratory failure. Additional features may include facial muscle weakness, amyotrophy, joint contractures, distal hyperlaxity, pulmonary hypertension with secondary cardiac dysfunction, and insulin resistance in patients with a low BMI. Skeletal muscle biopsy typically shows multiminicores and other abnormal non-specific myopathic findings." []
synonym: "Congenital merosin-positive muscular dystrophy with early spine rigidity" [UniProt]
synonym: "Congenital muscular dystrophy Eichsfeld type" [UniProt]
synonym: "Congenital muscular dystrophy merosin-positive with early spine rigidity" [UniProt]
synonym: "Desmin-related myopathy with Mallory bodies" [UniProt]
synonym: "MDRS1" [UniProt]
synonym: "Minicore myopathy severe classic form" [UniProt]
synonym: "Multicore myopathy severe classic form" [UniProt]
synonym: "Multiminicore disease severe classic form" [UniProt]
synonym: "Rigid spine muscular dystrophy 1" [UniProt]
synonym: "Rigid spine syndrome" [UniProt]
synonym: "RSMD1" [UniProt]
synonym: "RSS" [UniProt]
synonym: "SEPN1-related myopathy" [UniProt]
xref: MedGen:C0410180
xref: MeSH:D020914
xref: MIM:602771 "phenotype"
[Term]
id: DI-00796
name: Myotonia SCN4A-related
def: "A phenotypically highly variable myotonia aggravated by potassium loading, and sometimes by cold. Myotonia is characterized by sustained muscle tensing that prevents muscles from relaxing normally. It causes muscle stiffness that can interfere with movement. In some people the stiffness is very mild, while in other cases it may be severe enough to interfere with walking, running, and other activities of daily life. Myotonia SCN4A-related includes myotonia permanens and myotonia fluctuans. In myotonia permanens, the myotonia is generalized and there is a hypertrophy of the muscle, particularly in the neck and the shoulder. Attacks of severe muscle stiffness of the thoracic muscles may be life threatening due to impaired ventilation. In myotonia fluctuans, the muscle stiffness may fluctuate from day to day, provoked by exercise." []
synonym: "Myotonia congenita acetazolamide-responsive" [UniProt]
synonym: "Myotonia congenita atypical" [UniProt]
synonym: "Myotonia fluctuans" [UniProt]
synonym: "Myotonia permanens" [UniProt]
synonym: "Myotonia potassium-aggravated" [UniProt]
synonym: "SCM" [UniProt]
synonym: "Sodium channel muscle disease" [UniProt]
xref: MedGen:C0752355
xref: MedGen:C2931826
xref: MedGen:C3149517
xref: MeSH:D020967
xref: MIM:608390 "phenotype"
[Term]
id: DI-00797
name: Naegeli-Franceschetti-Jadassohn syndrome
def: "A rare autosomal dominant form of ectodermal dysplasia. The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), palmoplantar keratoderma, hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy, and tooth enamel defects." []
synonym: "Naegeli syndrome" [UniProt]
synonym: "NFJ syndrome" [UniProt]
xref: MedGen:C0343111
xref: MeSH:D004476
xref: MeSH:D007007
xref: MeSH:D007645
xref: MIM:161000 "phenotype"
[Term]
id: DI-00798
name: Naxos disease
def: "An autosomal recessive disorder characterized by the association of diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiac abnormalities such as dilated cardiomyopathy and arrhythmogenic right ventricular dysplasia." []
synonym: "Cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities" [UniProt]
synonym: "Keratosis palmoplantaris with arrythmogenic cardiomyopathy" [UniProt]
synonym: "Mal de Naxos" [UniProt]
synonym: "Palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair" [UniProt]
synonym: "Woolly hair, palmoplantar keratoderma, and cardiac abnormalities" [UniProt]
xref: MedGen:C1832600
xref: MeSH:D006201
xref: MeSH:D007645
xref: MeSH:D019571
xref: MIM:601214 "phenotype"
[Term]
id: DI-00799
name: Cholestasis, neonatal intrahepatic, caused by citrin deficiency
def: "A form of citrullinemia type 2 with neonatal onset, characterized by suppression of the bile flow, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, variable liver dysfunction. Neonatal intrahepatic cholestasis due to citrin deficiency is generally not severe and symptoms disappear by one year of age with an appropriate diet. Years or even decades later, however, some individuals develop the characteristic features of citrullinemia type 2 with neuropsychiatric symptoms." []
synonym: "Citrin deficiency" [UniProt]
synonym: "Citrullinemia, type II, neonatal-onset" [UniProt]
synonym: "Citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia" [UniProt]
synonym: "Neonatal-onset citrullinemia type 2" [UniProt]
synonym: "Neonatal-onset citrullinemia type II" [UniProt]
xref: MedGen:C1853942
xref: MeSH:D002780
xref: MIM:605814 "phenotype"
[Term]
id: DI-00800
name: Peroxisome biogenesis disorder 1A
def: "A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum. PBD1A is an autosomal recessive systemic disorder characterized clinically by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life." []
synonym: "Cerebro-hepato-renal syndrome" [UniProt]
synonym: "Cerebrohepatorenal syndrome" [UniProt]
synonym: "CHR syndrome" [UniProt]
synonym: "Peroxisome biogenesis disorder 1A (Zellweger)" [UniProt]
synonym: "Zellweger syndrome" [UniProt]
synonym: "Zellweger's syndrome" [UniProt]
synonym: "ZS" [UniProt]
synonym: "ZWS" [UniProt]
xref: MedGen:C0043459
xref: MeSH:D015211
xref: MIM:214100 "phenotype"
[Term]
id: DI-00801
name: Nephrolithiasis, X-linked recessive, with renal failure
def: "An X-linked recessive renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. XRN patients present with hypercalciuria, nephrocalcinosis, renal stones and renal insufficiency. Patients lack urinary acidification defects, rickets, and osteomalacia." []
synonym: "Nephrolithiasis 1" [UniProt]
synonym: "NPHL1" [UniProt]
xref: MedGen:C0403720
xref: MeSH:D053040
xref: MIM:310468 "phenotype"
[Term]
id: DI-00802
name: Dent disease 1
def: "An X-linked recessive renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. DENT1 patients manifest hypercalciuria, hypophosphatemia, aminoaciduria, nephrocalcinosis and nephrolithiasis, renal insufficiency leading to renal failure in adulthood, rickets (33% of patients) and osteomalacia." []
synonym: "Nephrolithiasis 2" [UniProt]
synonym: "Nephrolithiasis-hypercalciuria X-linked recessive" [UniProt]
synonym: "NPHL2" [UniProt]
synonym: "Urolithiasis, hypercalciuric, X-linked" [UniProt]
xref: MedGen:C1848336
xref: MeSH:D053040
xref: MIM:300009 "phenotype"
[Term]
id: DI-00803
name: Nephronophthisis 1
def: "An autosomal recessive inherited disease characterized by anemia, polyuria, polydipsia, isosthenuria and death in uremia. Symmetrical destruction of the kidneys involving both tubules and glomeruli occurs. The underlying pathology is a chronic tubulo-interstitial nephropathy with characteristic tubular basement membrane thickening and medullary cyst formation. Associations with extrarenal symptoms, especially ocular lesions, are frequent. The age at death ranges from about 4 to 15 years." []
synonym: "Familial juvenile nephronophthisis 1" [UniProt]
xref: MedGen:C1855681
xref: MeSH:D052177
xref: MIM:256100 "phenotype"
[Term]
id: DI-00804
name: Nephronophthisis 2
def: "An autosomal recessive disorder resulting in end-stage renal disease. It is characterized by early onset and rapid progression. Phenotypic manifestations include enlarged kidneys, chronic tubulo-interstitial nephritis, anemia, hyperkalemic metabolic acidosis. Some patients also display situs inversus. Pathologically, it differs from later-onset nephronophthisis by the absence of medullary cysts and thickened tubular basement membranes, and by the presence of cortical microcysts." []
synonym: "Infantile nephronophthisis" [UniProt]
xref: MedGen:C1865872
xref: MeSH:D052177
xref: MIM:602088 "phenotype"
[Term]
id: DI-00805
name: Nephronophthisis 3
def: "An autosomal recessive disorder resulting in end-stage renal disease. It is characterized by polyuria, polydipsia, anemia. Onset of terminal renal failure occurr significantly later (median age, 19 years) than in juvenile nephronophthisis. Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilation, sclerosing tubulointerstitial nephropathy, and renal cyst development predominantly at the corticomedullary junction." []
synonym: "Adolescent nephronophthisis" [UniProt]
xref: MedGen:C1858392
xref: MeSH:D052177
xref: MIM:604387 "phenotype"
[Term]
id: DI-00806
name: Nephronophthisis 4
def: "An autosomal recessive inherited disease resulting in end-stage renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features are modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts." []
synonym: "Juvenile nephronophthisis 4" [UniProt]
xref: MedGen:C1847013
xref: MeSH:D052177
xref: MIM:606966 "phenotype"
[Term]
id: DI-00807
name: Nephronophthisis 7
def: "An autosomal recessive disorder resulting in end-stage renal disease during childhood or adolescence. It is a progressive tubulo- interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts." []
xref: MedGen:C1969092
xref: MeSH:D052177
xref: MIM:611498 "phenotype"
[Term]
id: DI-00808
name: Epidermolysis bullosa simplex 7, with nephropathy and deafness
def: "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. EBS7 is an autosomal recessive disorder characterized by the association of skin blistering, hereditary nephritis, sensorineural deafness, and beta- thalassemia minor. Skin blistering is present at birth, particularly in the tibial area but also scattered on other parts of the body." []
synonym: "Nephropathy with pretibial epidermolysis bullosa and deafness" [UniProt]
synonym: "NPEBD" [UniProt]
xref: MedGen:C1836823
xref: MeSH:D003638
xref: MeSH:D007674
xref: MeSH:D016108
xref: MIM:609057 "phenotype"
[Term]
id: DI-00809
name: Netherton syndrome
def: "An autosomal recessive congenital ichthyosis associated with hair shaft abnormalities and anomalies of the immune system. Typical features are ichthyosis linearis circumflexa, ichthyosiform erythroderma, trichorrhexis invaginata (bamboo hair), atopic dermatitis, and hayfever. High postnatal mortality is due to failure to thrive, infections and hypernatremic dehydration." []
synonym: "Comel-Netherton syndrome" [UniProt]
synonym: "Erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE" [UniProt]
synonym: "Netherton disease" [UniProt]
synonym: "NS" [UniProt]
synonym: "NTS" [UniProt]
xref: MedGen:C0265962
xref: MeSH:D056770
xref: MIM:256500 "phenotype"
[Term]
id: DI-00810
name: Ceroid lipofuscinosis, neuronal, 1
def: "A form of neuronal ceroid lipofuscinosis with variable age at onset. Infantile, late-infantile, juvenile, and adult onset have been reported. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD)." []
synonym: "Hagberg-Santavuori disease" [UniProt]
synonym: "INCL" [UniProt]
synonym: "Infantile neuronal ceroid lipofuscinosis" [UniProt]
synonym: "Juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits" [UniProt]
synonym: "Neuronal ceroid lipofuscinosis with variable age at onset" [UniProt]
synonym: "Santavuori disease" [UniProt]
synonym: "Santavuori-Haltia disease" [UniProt]
xref: MedGen:C0268281
xref: MedGen:C1850451
xref: MedGen:C2931673
xref: MeSH:D009472
xref: MIM:256730 "phenotype"
[Term]
id: DI-00811
name: Ceroid lipofuscinosis, neuronal, 2
def: "A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment pattern seen most often in CLN2 consists of curvilinear profiles." []
synonym: "Jansky-Bielschowsky disease" [UniProt]
synonym: "Late-infantile neuronal ceroid lipofuscinosis" [UniProt]
synonym: "LINCL" [UniProt]
synonym: "Neuronal ceroid lipofuscinosis 2 with variable age at onset" [UniProt]
xref: MedGen:C0022340
xref: MedGen:C1876161
xref: MeSH:D009472
xref: MIM:204500 "phenotype"
[Term]
id: DI-00812
name: Ceroid lipofuscinosis, neuronal, 3
def: "A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a fingerprint profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane- bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with neuronal ceroid lipofuscinosis type 3." []
synonym: "Batten disease" [UniProt]
synonym: "JNCL" [UniProt]
synonym: "Juvenile neuronal ceroid lipofuscinosis" [UniProt]
synonym: "Spielmeyer-Sjogren disease" [UniProt]
synonym: "Vogt-Spielmeyer disease" [UniProt]
xref: MedGen:C0751383
xref: MedGen:C2931674
xref: MeSH:D009472
xref: MIM:204200 "phenotype"
[Term]
id: DI-00813
name: Ceroid lipofuscinosis, neuronal, 5
def: "A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 5 comprise mixed combinations of granular, curvilinear, and fingerprint profiles." []
synonym: "Finnish" [UniProt]
synonym: "Finnish variant late infantile neuronal ceroid lipofuscinosis" [UniProt]
synonym: "Neuronal ceroid lipofuscinosis 5 with variable age at onset" [UniProt]
synonym: "vLINCL" [UniProt]
xref: MedGen:C1850442
xref: MeSH:D009472
xref: MIM:256731 "phenotype"
[Term]
id: DI-00814
name: Ceroid lipofuscinosis, neuronal, 6
def: "An autosomal recessive form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 6 comprise mixed combinations of granular, curvilinear, and fingerprint profiles." []
synonym: "Neuronal ceroid lipofuscinosis 6 with variable age at onset" [UniProt]
synonym: "Variant late-onset infantile neuronal ceroid lipofuscinosis" [UniProt]
synonym: "vLINCL" [UniProt]
xref: MedGen:C1866282
xref: MeSH:D009472
xref: MIM:601780 "phenotype"
[Term]
id: DI-00815
name: Ceroid lipofuscinosis, neuronal, 7
def: "A form of neuronal ceroid lipofuscinosis with onset in early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 7 comprise mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles." []
synonym: "Turkish variant late infantile NCL" [UniProt]
xref: MedGen:C1838571
xref: MeSH:D009472
xref: MIM:610951 "phenotype"
[Term]
id: DI-00816
name: Ceroid lipofuscinosis, neuronal, 8
def: "A form of neuronal ceroid lipofuscinosis with onset in childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 8 comprise mixed combinations of granular, curvilinear, and fingerprint profiles." []
synonym: "Turkish variant late infantile NCL" [UniProt]
xref: MedGen:C1838570
xref: MeSH:D009472
xref: MIM:600143 "phenotype"
[Term]
id: DI-00817
name: Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant
def: "A form of neuronal ceroid lipofuscinosis clinically characterized by epilepsy that presents between 5 and 10 years of age with frequent tonic-clonic seizures followed by progressive intellectual disability. Visual loss is not a prominent feature. Intracellular accumulation of autofluorescent material results in curvilinear and granular profiles on ultrastructural analysis." []
synonym: "EPMR" [UniProt]
xref: MedGen:C1864923
xref: MeSH:D009472
xref: MIM:610003 "phenotype"
[Term]
id: DI-00818
name: Ceroid lipofuscinosis, neuronal, 10
def: "A form of neuronal ceroid lipofuscinosis with onset at birth or early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy." []
synonym: "Congenital neuronal ceroid lipofuscinosis" [UniProt]
synonym: "Neuronal ceroid lipofuscinosis cathepsin d-deficient" [UniProt]
synonym: "Neuronal ceroid lipofuscinosis due to cathepsin D deficiency" [UniProt]
xref: MedGen:C1864669
xref: MedGen:C1864670
xref: MeSH:D009472
xref: MIM:610127 "phenotype"
[Term]
id: DI-00819
name: Epilepsy, nocturnal frontal lobe, 1
def: "An autosomal dominant focal epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements." []
synonym: "ADNFLE" [UniProt]
synonym: "Autosomal dominant nocturnal frontal lobe epilepsy" [UniProt]
xref: MedGen:C1838049
xref: MeSH:D017034
xref: MIM:600513 "phenotype"
[Term]
id: DI-00820
name: Epilepsy, nocturnal frontal lobe, 3
def: "An autosomal dominant focal epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements." []
xref: MedGen:C1854335
xref: MeSH:D017034
xref: MIM:605375 "phenotype"
[Term]
id: DI-00821
name: Epilepsy, nocturnal frontal lobe, 4
def: "An autosomal dominant focal epilepsy characterized by nocturnal seizures associated with fear sensation, tongue movements, and nocturnal wandering, closely resembling nightmares and sleep walking." []
synonym: "Familial epilepsy with nocturnal wandering and ictal fear" [UniProt]
xref: MedGen:C1835905
xref: MeSH:D017034
xref: MIM:610353 "phenotype"
[Term]
id: DI-00822
name: Ichthyosis, congenital, autosomal recessive 2
def: "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs." []
synonym: "CIE" [UniProt]
synonym: "Ichthyosiform erythroderma Brocq congenital non-bullous form" [UniProt]
synonym: "Ichthyosiform erythroderma, congenital" [UniProt]
synonym: "IECN1" [UniProt]
synonym: "NCIE1" [UniProt]
synonym: "Non-bullous congenital ichthyosiform erythroderma type 1" [UniProt]
synonym: "Self-healing collodion baby" [UniProt]
xref: MedGen:C1855792
xref: MeSH:D017490
xref: MIM:242100 "phenotype"
[Term]
id: DI-00823
name: Left ventricular non-compaction 1
def: "A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC1 is an autosomal dominant condition." []
synonym: "Left ventricular non-compaction with or without congenital heart defects" [UniProt]
synonym: "Non-compaction of left ventricular myocardium isolated autosomal dominant type 1" [UniProt]
synonym: "Non-compaction of left ventricular myocardium with congenital heart defects" [UniProt]
xref: MedGen:C1858725
xref: MeSH:D056830
xref: MIM:604169 "phenotype"
[Term]
id: DI-00826
name: Non-syndromic orofacial cleft 5
def: "A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum." []
synonym: "Non-syndromic cleft lip with or without cleft palate 5" [UniProt]
synonym: "Non-syndromic cleft lip/palate 5" [UniProt]
synonym: "Orofacial cleft 5" [UniProt]
xref: MedGen:C1837210
xref: MeSH:D002971
xref: MIM:608874 "phenotype"
[Term]
id: DI-00827
name: Non-syndromic orofacial cleft 6
def: "A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum." []
synonym: "Non-syndromic cleft lip with or without cleft palate 6" [UniProt]
synonym: "Non-syndromic cleft lip/palate 6" [UniProt]
synonym: "Orofacial cleft 6" [UniProt]
xref: MedGen:C1837213
xref: MeSH:D002971
xref: MIM:608864 "phenotype"
[Term]
id: DI-00828
name: Non-syndromic orofacial cleft 7
def: "A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum." []
synonym: "Non-syndromic cleft lip with or without cleft palate 7" [UniProt]
synonym: "Non-syndromic cleft lip/palate 7" [UniProt]
synonym: "Orofacial cleft 7" [UniProt]
xref: MedGen:C1833538
xref: MedGen:C1857043
xref: MeSH:D002971
xref: MIM:225060 "phenotype"
[Term]
id: DI-00829
name: Orofacial cleft 8
def: "A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum." []
synonym: "Cleft lip with or without cleft palate, nonsyndromic, 8" [UniProt]
synonym: "Non-syndromic cleft lip with or without cleft palate 8" [UniProt]
synonym: "Non-syndromic cleft lip/palate 8" [UniProt]
xref: MedGen:C1851878
xref: MedGen:C1851879
xref: MeSH:D002971
xref: MIM:618149 "phenotype"
[Term]
id: DI-00830
name: Non-syndromic orofacial cleft 11
def: "A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum." []
synonym: "CHCL" [UniProt]
synonym: "Cleft lip congenital healed" [UniProt]
synonym: "Congenital healed cleft lip" [UniProt]
synonym: "Non-syndromic cleft lip with or without cleft palate 11" [UniProt]
synonym: "Non-syndromic cleft lip/palate 11" [UniProt]
synonym: "Orofacial cleft 11" [UniProt]
xref: MedGen:C1833563
xref: MedGen:C2677434
xref: MeSH:D002971
xref: MIM:600625 "phenotype"
[Term]
id: DI-00831
name: Deafness, autosomal dominant 1, with or without thrombocytopenia
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Patients may have mild thrombocytopenia and enlarged platelets, although most of DFNA1 affected individuals do not have significant bleeding tendencies." []
synonym: "Hereditary low-frequency hearing loss" [UniProt]
synonym: "Hereditary low-frequency sensorineural hearing loss" [UniProt]
synonym: "Konigsmark syndrome" [UniProt]
synonym: "LFHL1" [UniProt]
synonym: "LFSNHL1" [UniProt]
synonym: "Non-syndromic neurosensory deafness autosomal dominant type 1" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal dominant type 1" [UniProt]
xref: MedGen:C1852282
xref: MeSH:D006319
xref: MIM:124900 "phenotype"
[Term]
id: DI-00832
name: Deafness, autosomal dominant, 2A
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Non-syndromic neurosensory deafness autosomal dominant type 2A" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal dominant type 2A" [UniProt]
xref: MedGen:C2677637
xref: MeSH:D006319
xref: MIM:600101 "phenotype"
[Term]
id: DI-00833
name: Deafness, autosomal dominant, 2B
def: "A form of non-syndromic sensorineural deafness characterized by progressive high frequency hearing loss in adulthood, with milder expression in females." []
synonym: "Deafness, autosomal dominant, with or without peripheral neuropathy" [UniProt]
xref: MedGen:C2675236
xref: MeSH:D006319
xref: MIM:612644 "phenotype"
[Term]
id: DI-00834
name: Deafness, autosomal dominant, 3A
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Non-syndromic neurosensory deafness autosomal dominant type 3A" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal dominant type 3A" [UniProt]
xref: MedGen:C2675750
xref: MeSH:D006319
xref: MIM:601544 "phenotype"
[Term]
id: DI-00835
name: Deafness, autosomal dominant, 3B
def: "A form of non-syndromic sensorineural hearing loss characterized by a variable phenotype, ranging from bilateral middle to high frequency hearing loss to profound sensorineural deafness. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Non-syndromic neurosensory deafness autosomal dominant type 3B" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal dominant type 3B" [UniProt]
xref: MedGen:C2675237
xref: MeSH:D006319
xref: MIM:612643 "phenotype"
[Term]
id: DI-00836
name: Deafness, autosomal dominant, 4A
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Deafness autosomal dominant 4" [UniProt]
synonym: "DFNA4" [UniProt]
synonym: "Non-syndromic neurosensory deafness autosomal dominant type 4" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal dominant type 4" [UniProt]
xref: MedGen:C1833503
xref: MeSH:D006319
xref: MIM:600652 "phenotype"
[Term]
id: DI-00837
name: Deafness, autosomal dominant, 5
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Non-syndromic neurosensory deafness autosomal dominant type 5" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal dominant type 5" [UniProt]
xref: MedGen:C1832932
xref: MeSH:D006319
xref: MIM:600994 "phenotype"
[Term]
id: DI-00838
name: Deafness, autosomal dominant, 6
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA6 is a low-frequency hearing loss in which frequencies of 2000 Hz and below are predominantly affected. Many patients have tinnitus, but there are otherwise no associated features such as vertigo. Because high-frequency hearing is generally preserved, patients retain excellent understanding of speech, although presbycusis or noise exposure may cause high-frequency loss later in life. DFNA6 worsens over time without progressing to profound deafness." []
synonym: "Deafness autosomal dominant 14" [UniProt]
synonym: "Deafness autosomal dominant 38" [UniProt]
synonym: "DFNA14" [UniProt]
synonym: "DFNA38" [UniProt]
synonym: "Non-syndromic neurosensory deafness autosomal dominant type 6" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal dominant type 6" [UniProt]
xref: MedGen:C1833021
xref: MeSH:D006319
xref: MIM:600965 "phenotype"
[Term]
id: DI-00839
name: Deafness, autosomal dominant, 9
def: "A form of non-syndromic hearing loss characterized by onset in the fourth or fifth decade of life and initially involves the high frequencies. Hearing loss is progressive and usually complete by the sixth decade. In addition to cochlear involvement, DFNA9 patients also exhibit a spectrum of vestibular dysfunctions. Penetrance of the vestibular symptoms is often incomplete, and some patients are minimally affected, whereas others suffer from severe balance disturbances and episodes of vertigo. Affected individuals have mucopolysaccharide depositions in the channels of the cochlear and vestibular nerves. These depositions apparently cause strangulation and degeneration of dendritic fibers." []
xref: MedGen:C1832425
xref: MeSH:D006319
xref: MIM:601369 "phenotype"
[Term]
id: DI-00840
name: Deafness, autosomal dominant, 10
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Non-syndromic neurosensory deafness autosomal dominant type 10" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal dominant type 10" [UniProt]
xref: MedGen:C1832476
xref: MeSH:D006319
xref: MIM:601316 "phenotype"
[Term]
id: DI-00841
name: Deafness, autosomal dominant, 11
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA11 is characterized by onset after complete speech acquisition and subsequent gradual progression." []
synonym: "Non-syndromic sensorineural deafness autosomal dominant type 11" [UniProt]
xref: MedGen:C1832475
xref: MeSH:D006319
xref: MIM:601317 "phenotype"
[Term]
id: DI-00842
name: Deafness, autosomal dominant, 12
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Deafness autosomal dominant 8" [UniProt]
synonym: "DFNA8" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal dominant type 12" [UniProt]
xref: MedGen:C1832187
xref: MeSH:D006319
xref: MIM:601543 "phenotype"
[Term]
id: DI-00843
name: Deafness, autosomal dominant, 13
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Non-syndromic neurosensory deafness autosomal dominant type 13" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal dominant type 13" [UniProt]
xref: MedGen:C1866095
xref: MeSH:D006319
xref: MIM:601868 "phenotype"
[Term]
id: DI-00844
name: Deafness, autosomal dominant, 15
def: "A form of non-syndromic hearing loss with variable phenotype in terms of age at onset, levels of progression, and shape of audiograms." []
xref: MedGen:C1865366
xref: MeSH:D006319
xref: MIM:602459 "phenotype"
[Term]
id: DI-00845
name: Deafness, autosomal dominant, 17
def: "A form of deafness characterized by progressive high frequency hearing impairment and cochleosaccular degeneration." []
synonym: "cochleosaccular degeneration" [UniProt]
xref: MedGen:C1863659
xref: MedGen:C1863660
xref: MeSH:D006319
xref: MIM:603622 "phenotype"
[Term]
id: DI-00846
name: Deafness, autosomal dominant, 20
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Deafness autosomal dominant 26" [UniProt]
synonym: "DFNA26" [UniProt]
synonym: "Non-syndromic neurosensory deafness autosomal dominant type 20" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal dominant type 20" [UniProt]
xref: MedGen:C1858172
xref: MeSH:D006319
xref: MIM:604717 "phenotype"
[Term]
id: DI-00847
name: Deafness, autosomal dominant, 22
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA22 is progressive and postlingual, with onset during childhood. By the age of approximately 50 years, affected individuals invariably have profound sensorineural deafness." []
synonym: "Non-syndromic neurosensory deafness autosomal dominant type 22" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal dominant type 22" [UniProt]
xref: MedGen:C1853441
xref: MedGen:C2931767
xref: MeSH:D006319
xref: MIM:606346 "phenotype"
[Term]
id: DI-00848
name: Deafness, autosomal dominant, 25
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA25 expression is variable in terms of onset and rate of progression, with an age-dependent penetrance resembling an early-onset presbycusis, or senile deafness, a progressive bilateral loss of hearing that occurs in the aged." []
synonym: "Non-syndromic neurosensory deafness autosomal dominant type 25" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal dominant type 25" [UniProt]
xref: MedGen:C1854158
xref: MeSH:D006319
xref: MIM:605583 "phenotype"
[Term]
id: DI-00849
name: Deafness, autosomal dominant, 28
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA28 is characterized by mild to moderate hearing loss across most frequencies that progresses to severe loss in the higher frequencies by the fifth decade." []
synonym: "Non-syndromic neurosensory deafness autosomal dominant type 28" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal dominant type 28" [UniProt]
xref: MedGen:C1837640
xref: MeSH:D006319
xref: MIM:608641 "phenotype"
[Term]
id: DI-00850
name: Deafness, autosomal dominant, 36
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA36 is a bilateral hearing loss, and begins at 5-10 years of age. It progresses to profound deafness within 10-15 years." []
synonym: "Non-syndromic neurosensory deafness autosomal dominant type 36" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal dominant type 36" [UniProt]
xref: MedGen:C1847626
xref: MedGen:C3502293
xref: MeSH:D006319
xref: MIM:606705 "phenotype"
[Term]
id: DI-00851
name: Deafness, autosomal dominant, 48
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Deafness autosomal dominant due to mutation in MYO1A" [UniProt]
synonym: "Non-syndromic neurosensory deafness autosomal dominant type 48" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal dominant type 48" [UniProt]
xref: MedGen:C1842939
xref: MeSH:D006319
xref: MIM:607841 "phenotype"
[Term]
id: DI-00852
name: Deafness, autosomal recessive, 1A
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Deafness digenic GJB2/GJB3" [UniProt]
synonym: "Deafness digenic GJB2/GJB6" [UniProt]
synonym: "Deafness neurosensory autosomal recessive 1" [UniProt]
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 1" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal recessive type 1" [UniProt]
synonym: "NSRD1" [UniProt]
xref: MedGen:C2673759
xref: MedGen:C2673760
xref: MedGen:C2673761
xref: MeSH:D006319
xref: MIM:220290 "phenotype"
[Term]
id: DI-00853
name: Deafness, autosomal recessive, 1B
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Deafness digenic GJB2/GJB6" [UniProt]
synonym: "Deafness neurosensory autosomal recessive 1" [UniProt]
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 1" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal recessive type 1" [UniProt]
synonym: "NSRD1" [UniProt]
xref: MedGen:C2675235
xref: MeSH:D006319
xref: MIM:612645 "phenotype"
[Term]
id: DI-00854
name: Deafness, autosomal recessive, 2
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Deafness neurosensory autosomal recessive 2" [UniProt]
synonym: "Neurosensory nonsyndromic recessive deafness 2" [UniProt]
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 2" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal recessive type 2" [UniProt]
synonym: "NSRD2" [UniProt]
xref: MedGen:C1838701
xref: MeSH:D006319
xref: MIM:600060 "phenotype"
[Term]
id: DI-00855
name: Deafness, autosomal recessive, 3
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Deafness neurosensory autosomal recessive 3" [UniProt]
synonym: "Neurosensory nonsyndromic recessive deafness 3" [UniProt]
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 3" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal recessive type 3" [UniProt]
synonym: "NSRD3" [UniProt]
xref: MedGen:C1838263
xref: MeSH:D006319
xref: MIM:600316 "phenotype"
[Term]
id: DI-00856
name: Deafness, autosomal recessive, 4
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB4 is associated with an enlarged vestibular aqueduct." []
synonym: "Deafness neurosensory autosomal recessive 4" [UniProt]
synonym: "Enlarged vestibular aqueduct" [UniProt]
synonym: "EVA" [UniProt]
synonym: "Neurosensory nonsyndromic recessive deafness 4" [UniProt]
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 4" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal recessive type 4" [UniProt]
synonym: "NSRD4" [UniProt]
xref: MedGen:C1863752
xref: MeSH:D006319
xref: MIM:600791 "phenotype"
[Term]
id: DI-00857
name: Deafness, autosomal recessive, 6
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Deafness neurosensory autosomal recessive 6" [UniProt]
synonym: "Neurosensory nonsyndromic recessive deafness 6" [UniProt]
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 6" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal recessive type 6" [UniProt]
synonym: "NSRD6" [UniProt]
xref: MedGen:C1832992
xref: MeSH:D006319
xref: MIM:600971 "phenotype"
[Term]
id: DI-00858
name: Deafness, autosomal recessive, 7
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Deafness neurosensory autosomal recessive 11" [UniProt]
synonym: "Deafness neurosensory autosomal recessive 7" [UniProt]
synonym: "DFNB11" [UniProt]
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 7" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal recessive type 7" [UniProt]
xref: MedGen:C1832978
xref: MeSH:D006319
xref: MIM:600974 "phenotype"
[Term]
id: DI-00859
name: Deafness, autosomal recessive, 8
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Childhood-onset neurosensory deafness autosomal recessive 8" [UniProt]
synonym: "Deafness autosomal recessive 10" [UniProt]
synonym: "Deafness autosomal recessive 8/10" [UniProt]
synonym: "Deafness neurosensory autosomal recessive 8" [UniProt]
synonym: "DFNB10" [UniProt]
synonym: "Neurosensory nonsyndromic recessive deafness 8" [UniProt]
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 8" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal recessive type 8" [UniProt]
synonym: "NSRD8" [UniProt]
xref: MedGen:C1832827
xref: MeSH:D006319
xref: MIM:601072 "phenotype"
[Term]
id: DI-00860
name: Deafness, autosomal recessive, 9
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Deafness neurosensory autosomal recessive 9" [UniProt]
synonym: "Neurosensory nonsyndromic recessive deafness 9" [UniProt]
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 9" [UniProt]
synonym: "Non-syndromic recessive hearing loss 9" [UniProt]
synonym: "NSRD9" [UniProt]
xref: MedGen:C1832828
xref: MeSH:D006319
xref: MIM:601071 "phenotype"
[Term]
id: DI-00862
name: Deafness, autosomal recessive, 12
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Congenital neurosensory deafness autosomal recessive 12" [UniProt]
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 12" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal recessive type 12" [UniProt]
xref: MedGen:C1832394
xref: MeSH:D006319
xref: MIM:601386 "phenotype"
[Term]
id: DI-00863
name: Deafness, autosomal recessive, 16
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 16" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal recessive type 16" [UniProt]
xref: MedGen:C1863561
xref: MeSH:D006319
xref: MIM:603720 "phenotype"
[Term]
id: DI-00864
name: Deafness, autosomal recessive, 18A
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 18" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal recessive type 18" [UniProt]
xref: MedGen:C1865870
xref: MeSH:D006319
xref: MIM:602092 "phenotype"
[Term]
id: DI-00865
name: Deafness, autosomal recessive, 21
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 21" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal recessive type 21" [UniProt]
xref: MedGen:C1863655
xref: MeSH:D006319
xref: MIM:603629 "phenotype"
[Term]
id: DI-00866
name: Deafness, autosomal recessive, 22
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 22" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal recessive type 22" [UniProt]
xref: MedGen:C1846896
xref: MeSH:D006319
xref: MIM:607039 "phenotype"
[Term]
id: DI-00867
name: Deafness, autosomal recessive, 23
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 23" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal recessive type 23" [UniProt]
xref: MedGen:C1836027
xref: MeSH:D006319
xref: MIM:609533 "phenotype"
[Term]
id: DI-00868
name: Deafness, autosomal recessive, 28
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 28" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal recessive type 28" [UniProt]
xref: MedGen:C1853276
xref: MeSH:D006319
xref: MIM:609823 "phenotype"
[Term]
id: DI-00869
name: Deafness, autosomal recessive, 29
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 29" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal recessive type 29" [UniProt]
xref: MedGen:C3279660
xref: MeSH:D006319
xref: MIM:614035 "phenotype"
[Term]
id: DI-00870
name: Deafness, autosomal recessive, 30
def: "A form of non-syndromic deafness characterized by bilateral progressive hearing loss, which first affects the high frequencies. Hearing loss begins in the second decade, and by age 50 is severe in high and middle frequencies and moderate at low frequencies." []
xref: MedGen:C1846784
xref: MeSH:D003638
xref: MIM:607101 "phenotype"
[Term]
id: DI-00871
name: Deafness, autosomal recessive, 31
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 31" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal recessive type 31" [UniProt]
xref: MedGen:C1846839
xref: MeSH:D006319
xref: MIM:607084 "phenotype"
[Term]
id: DI-00872
name: Deafness, autosomal recessive, 35
def: "A form of non-syndromic deafness characterized by non-progressive, prelingual hearing loss." []
xref: MedGen:C1837857
xref: MeSH:D003638
xref: MIM:608565 "phenotype"
[Term]
id: DI-00873
name: Deafness, autosomal recessive, 36, with or without vestibular involvement
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB36 is characterized by prelingual, profound hearing loss, and vestibular areflexia in some patients." []
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 36" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal recessive type 36" [UniProt]
xref: MedGen:C1837007
xref: MeSH:D006319
xref: MIM:609006 "phenotype"
[Term]
id: DI-00874
name: Deafness, autosomal recessive, 37
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Congenital neurosensory deafness autosomal recessive 37" [UniProt]
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 37" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal recessive type 37" [UniProt]
xref: MedGen:C1843028
xref: MeSH:D006319
xref: MIM:607821 "phenotype"
[Term]
id: DI-00875
name: Deafness, autosomal recessive, 49
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 49" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal recessive type 49" [UniProt]
xref: MedGen:C1857811
xref: MeSH:D006319
xref: MIM:610153 "phenotype"
[Term]
id: DI-00876
name: Deafness, autosomal recessive, 53
def: "A form of non-syndromic sensorineural deafness characterized by prelingual, profound, non-progressive hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 53" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal recessive type 53" [UniProt]
xref: MedGen:C1864746
xref: MeSH:D006319
xref: MIM:609706 "phenotype"
[Term]
id: DI-00877
name: Deafness, autosomal recessive, 59
def: "A form of sensorineural hearing impairment with absent or severely abnormal auditory brainstem response but normal otoacoustic emissions (auditory neuropathy or auditory dys-synchrony). Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem." []
synonym: "DFNB59 auditory neuropathy" [UniProt]
xref: MedGen:C1857744
xref: MeSH:D006319
xref: MIM:610220 "phenotype"
[Term]
id: DI-00878
name: Deafness, autosomal recessive, 63
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 63" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal recessive type 63" [UniProt]
xref: MedGen:C1969621
xref: MeSH:D006319
xref: MIM:611451 "phenotype"
[Term]
id: DI-00879
name: Glaucoma, normal pressure
def: "A primary glaucoma characterized by intraocular pression consistently within the statistically normal population range." []
synonym: "Normal tension glaucoma" [UniProt]
synonym: "NTG" [UniProt]
xref: MedGen:C1847730
xref: MeSH:D005901
xref: MIM:606657 "phenotype"
[Term]
id: DI-00880
name: Occipital horn syndrome
def: "An X-linked recessive disorder of copper metabolism. Common features are unusual facial appearance, skeletal abnormalities, chronic diarrhea and genitourinary defects. The skeletal abnormalities include occipital horns, short, broad clavicles, deformed radii, ulnae and humeri, narrowing of the rib cage, undercalcified long bones with thin cortical walls and coxa valga." []
synonym: "Cutis laxa X-linked" [UniProt]
synonym: "EDS9" [UniProt]
synonym: "Ehlers-Danlos syndrome occipital horn type" [UniProt]
xref: MedGen:C0268353
xref: MeSH:D003483
xref: MIM:304150 "phenotype"
[Term]
id: DI-00881
name: Oculopharyngeal muscular dystrophy 1
def: "An autosomal dominant, late-onset, slowly progressive myopathy characterized by eyelid ptosis, dysphagia and, sometimes by other cranial and limb-muscle involvement." []
synonym: "Mscular dystrophy, oculopharyngeal" [UniProt]
xref: MedGen:C0270952
xref: MeSH:D039141
xref: MIM:164300 "phenotype"
[Term]
id: DI-00882
name: Odonto-onycho-dermal dysplasia
def: "A rare autosomal recessive ectodermal dysplasia characterized by dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin." []
synonym: "ECTD16" [UniProt]
synonym: "Ectodermal dysplasia 16, hypo- or hyperhidrotic/hair/tooth/nail type" [UniProt]
synonym: "Tricho-odonto-onycho-dermal dysplasia" [UniProt]
xref: MedGen:C0796093
xref: MeSH:D004476
xref: MIM:257980 "phenotype"
[Term]
id: DI-00883
name: Ornithine carbamoyltransferase deficiency
def: "An X-linked disorder of the urea cycle which causes a form of hyperammonemia. Mutations with no residual enzyme activity are always expressed in hemizygote males by a very severe neonatal hyperammonemic coma that generally proves to be fatal. Heterozygous females are either asymptomatic or express orotic aciduria spontaneously or after protein intake. The disorder is treatable with supplemental dietary arginine and low protein diet. The arbitrary classification of patients into the 'neonatal' group (clinical hyperammonemia in the first few days of life) and 'late' onset (clinical presentation after the neonatal period) has been used to differentiate severe from mild forms." []
synonym: "Hyperammonemia due to ornithine carbamoyltransferase deficiency" [UniProt]
synonym: "Ornithine transcarbamylase deficiency" [UniProt]
synonym: "OTC deficiency" [UniProt]
xref: MedGen:C0268542
xref: MedGen:C1839530
xref: MeSH:D020163
xref: MeSH:D022124
xref: MIM:311250 "phenotype"
[Term]
id: DI-00884
name: Osteopetrosis, autosomal dominant 1
def: "A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTA1 is an autosomal dominant form characterized by generalized osteosclerosis most pronounced in the cranial vault. Patients are often asymptomatic, but some suffer from pain and hearing loss. It appears to be the only type of osteopetrosis not associated with an increased fracture rate." []
xref: MedGen:C1843330
xref: MeSH:D010022
xref: MIM:607634 "phenotype"
[Term]
id: DI-00885
name: Osteopetrosis, autosomal dominant 2
def: "A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. It is characterized by sclerosis, predominantly involving the spine, the pelvis and the skull base." []
synonym: "Autosomal dominant Albers-Schonberg disease" [UniProt]
synonym: "Marble disease autosomal dominant" [UniProt]
xref: MedGen:C1833700
xref: MedGen:C3179239
xref: MeSH:D010022
xref: MIM:166600 "phenotype"
[Term]
id: DI-00886
name: Osteopetrosis, autosomal recessive 1
def: "A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves." []
synonym: "Autosomal recessive Albers-Schonberg disease" [UniProt]
synonym: "Infantile malignant osteopetrosis" [UniProt]
xref: MedGen:C1850127
xref: MeSH:D010022
xref: MIM:259700 "phenotype"
[Term]
id: DI-00887
name: Osteopetrosis, autosomal recessive 2
def: "A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB2 is characterized by paucity of osteoclasts, suggesting a molecular defect in osteoclast development." []
synonym: "Osteoclast-poor osteopetrosis" [UniProt]
xref: MedGen:C1850126
xref: MeSH:D010022
xref: MIM:259710 "phenotype"
[Term]
id: DI-00888
name: Osteopetrosis, autosomal recessive 4
def: "A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves." []
synonym: "Infantile malignant osteopetrosis 2" [UniProt]
xref: MedGen:C1969106
xref: MeSH:D010022
xref: MIM:611490 "phenotype"
[Term]
id: DI-00889
name: Osteopetrosis, autosomal recessive 5
def: "A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB5 patients manifest primary central nervous system involvement in addition to the classical stigmata of severe bone sclerosis, growth failure, anemia, thrombocytopenia and visual impairment with optic atrophy." []
synonym: "Infantile malignant osteopetrosis 3" [UniProt]
xref: MedGen:C1968603
xref: MeSH:D010022
xref: MIM:259720 "phenotype"
[Term]
id: DI-00890
name: Osteopetrosis, autosomal recessive 7
def: "A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB7 is characterized by paucity of osteoclasts, suggesting a molecular defect in osteoclast development. OPTB7 is associated with hypogammaglobulinemia." []
synonym: "Osteoclast-poor osteopetrosis with hypogammaglobulinemia" [UniProt]
xref: MedGen:C2676766
xref: MeSH:D010022
xref: MIM:612301 "phenotype"
[Term]
id: DI-00891
name: Pachyonychia congenita 1
def: "An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma, follicular hyperkeratosis, and oral leukokeratosis. Hyperhidrosis of the hands and feet is usually present." []
synonym: "Jadassohn-Lewandowsky syndrome" [UniProt]
synonym: "Pachyonychia congenita Jadassohn-Lewandowsky type" [UniProt]
xref: MedGen:C1706595
xref: MeSH:D053549
xref: MIM:167200 "phenotype"
[Term]
id: DI-00892
name: Pachyonychia congenita 2
def: "An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma and hyperhidrosis, follicular hyperkeratosis, multiple epidermal cysts, absent/sparse eyebrow and body hair, and by the presence of natal teeth." []
synonym: "Pachyonychia congenita Jackson-Lawler type" [UniProt]
xref: MedGen:C1721007
xref: MeSH:D053549
xref: MIM:167210 "phenotype"
[Term]
id: DI-00893
name: Palmoplantar keratoderma, epidermolytic, 1
def: "A form of epidermolytic palmoplantar keratoderma, a dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present knuckle pads, thick pads of skin appearing over the proximal phalangeal joints. EPPK1 inheritance is autosomal dominant." []
synonym: "EHPPK" [UniProt]
synonym: "Epidermolytic Unna-Thost disease" [UniProt]
synonym: "Keratosis of Greither" [UniProt]
synonym: "Keratosis palmaris et plantaris familiaris" [UniProt]
synonym: "Localized epidermolytic hyperkeratosis" [UniProt]
synonym: "Palmoplantar keratoderma, epidermolytic, with knuckle pads" [UniProt]
synonym: "Palmoplantar keratoderma, Vorner type" [UniProt]
synonym: "PPKE" [UniProt]
synonym: "Tylosis" [UniProt]
xref: MedGen:C1721006
xref: MedGen:C1840427
xref: MedGen:C2931735
xref: MedGen:C2936837
xref: MedGen:C3489771
xref: MedGen:C3489794
xref: MeSH:D053546
xref: MIM:144200 "phenotype"
[Term]
id: DI-00894
name: Keratoderma, palmoplantar, non-epidermolytic
def: "A dermatological disorder characterized by well-demarcated hyperkeratosis is present over the palms and soles. A red band is frequently present at the periphery of the keratosis. It is usually non-transgredient, with a sharp demarcation of the lesions at the wrists." []
synonym: "Non-epidermolytic Unna-Thost disease" [UniProt]
synonym: "Nonepidermolytic palmoplantar keratoderma" [UniProt]
synonym: "Nonepidermolytic Unna-Thost disease" [UniProt]
synonym: "Tylosis" [UniProt]
xref: MedGen:C1833030
xref: MeSH:D007645
xref: MIM:600962 "phenotype"
[Term]
id: DI-00895
name: Palmoplantar keratoderma 1, striate, focal, or diffuse
def: "A dermatological disorder characterized by thickening of the skin on the palms and soles, and longitudinal hyperkeratotic lesions on the palms, running the length of each finger." []
synonym: "Keratoderma, palmoplantar, striate form I" [UniProt]
synonym: "Keratosis palmoplantaris striata I" [UniProt]
synonym: "KPPS1" [UniProt]
synonym: "SPPK1" [UniProt]
synonym: "Striate palmoplantar keratoderma I" [UniProt]
xref: MedGen:C1835661
xref: MedGen:C2931122
xref: MeSH:D007645
xref: MIM:148700 "phenotype"
[Term]
id: DI-00896
name: Keratoderma, palmoplantar, striate 2
def: "A dermatological disorder characterized by thickening of the skin on the palms (linear pattern) and the soles (island-like pattern) and flexor aspect of the fingers. Abnormalities of the nails, the teeth and the hair are rarely present." []
synonym: "Keratoderma palmoplantar striate form II" [UniProt]
synonym: "Keratosis palmoplantaris striata II" [UniProt]
synonym: "KPPS2" [UniProt]
synonym: "PPKS2" [UniProt]
synonym: "Striate palmoplantar keratoderma II" [UniProt]
xref: MedGen:C1852127
xref: MeSH:D007645
xref: MIM:612908 "phenotype"
[Term]
id: DI-00897
name: Keratoderma, palmoplantar, striate 3
def: "A dermatological disorder characterized by thickening of the stratum corneum and epidermal layers on palms and soles. There is no involvement of non-palmoplantar skin, and both hair and nails are normal." []
synonym: "Keratosis palmoplantaris striata III" [UniProt]
synonym: "PPKS3" [UniProt]
synonym: "Striate palmoplantar keratoderma III" [UniProt]
xref: MedGen:C1843302
xref: MedGen:C2931123
xref: MeSH:D007645
xref: MIM:607654 "phenotype"
[Term]
id: DI-00898
name: Keratoderma, palmoplantar, with deafness
def: "An autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high- frequency, sensorineural deafness." []
xref: MedGen:C1835672
xref: MeSH:D007645
xref: MIM:148350 "phenotype"
[Term]
id: DI-00899
name: Keratoderma, palmoplantar, with squamous cell carcinoma of skin and sex reversal
def: "A recessive syndrome characterized by XX (female to male) SRY- independent sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin." []
synonym: "Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal" [UniProt]
xref: MedGen:C2674504
xref: MedGen:C3149931
xref: MeSH:D007645
xref: MIM:610644 "phenotype"
[Term]
id: DI-00900
name: Papillon-Lefevre syndrome
def: "An autosomal recessive disorder characterized by palmoplantar keratosis and severe periodontitis affecting deciduous and permanent dentitions and resulting in premature tooth loss. The palmoplantar keratotic phenotype vary from mild psoriasiform scaly skin to overt hyperkeratosis. Keratosis also affects other sites such as elbows and knees." []
synonym: "Keratosis palmoplantaris with periodontopathia" [UniProt]
synonym: "PALS" [UniProt]
xref: MedGen:C0030360
xref: MeSH:D010214
xref: MIM:245000 "phenotype"
[Term]
id: DI-00901
name: Paramyotonia congenita
def: "An autosomal dominant channelopathy characterized by myotonia, increased by exposure to cold, intermittent flaccid paresis, not necessarily dependent on cold or myotonia, lability of serum potassium, non-progressive nature and lack of atrophy or hypertrophy of muscles. In some patients, myotonia is not increased by cold exposure (paramyotonia without cold paralysis). Patients may have a combination phenotype of PMC and HYPP." []
synonym: "Paralysis periodica paramyotonia" [UniProt]
synonym: "Paralysis periodica paramyotonica" [UniProt]
synonym: "Paramyotonia congenita of von Eulenburg" [UniProt]
synonym: "Paramyotonia congenita without cold paralysis" [UniProt]
xref: MedGen:C0221055
xref: MedGen:C1868617
xref: MedGen:C1868618
xref: MedGen:C1868619
xref: MeSH:D020967
xref: MIM:168300 "phenotype"
[Term]
id: DI-00902
name: Macular dystrophy, patterned, 1
def: "A form of retinal patterned dystrophy, a heterogeneous group of macular disorders that includes reticular (fishnet-like) dystrophy, macroreticular (spider-shaped) dystrophy and butterfly-shaped pigment dystrophy." []
synonym: "Butterfly dystrophy of retinal pigment epithelium" [UniProt]
synonym: "Macular dystrophy, butterfly-shaped pigmentary" [UniProt]
synonym: "Patterned dystrophy of retinal pigment epithelium" [UniProt]
xref: MedGen:C1868569
xref: MeSH:D058499
xref: MIM:169150 "phenotype"
[Term]
id: DI-00903
name: Pelizaeus-Merzbacher disease
def: "An X-linked recessive hypomyelinating disorder of the central nervous system in which myelin is not formed properly. PMD is characterized clinically by nystagmus, spastic quadriplegia, ataxia, and developmental delay." []
synonym: "HLD1" [UniProt]
synonym: "Leukodystrophy hypomyelinating 1" [UniProt]
xref: MedGen:C0205711
xref: MeSH:D020371
xref: MIM:312080 "phenotype"
[Term]
id: DI-00905
name: Pendred syndrome
def: "An autosomal recessive disorder characterized by congenital sensorineural hearing loss in association with thyroid goiter. The disorder may account for up to 10% of the cases of hereditary deafness. The deafness is most often associated with a Mondini cochlear defect. Deafness occurs early, starting at birth or during the first years of life. It is bilateral, sometimes asymmetrical, fluctuant and often progressive. Thyroid perturbations, such as thyroid goiter and/or hypothyroidism appear most commonly during adolescence, but they can be congenital or appear later." []
synonym: "Deafness with goiter" [UniProt]
synonym: "Goiter-deafness syndrome" [UniProt]
synonym: "TDH2B" [UniProt]
synonym: "Thyroid dyshormonogenesis 2B" [UniProt]
xref: MedGen:C0271829
xref: MeSH:D006042
xref: MIM:274600 "phenotype"
[Term]
id: DI-00906
name: Periodic paralysis hyperkalemic
def: "An autosomal dominant channelopathy characterized by episodic flaccid generalized muscle weakness associated with high levels of serum potassium. Concurrence of myotonia is found in HYPP patients." []
synonym: "Adynamia episodica hereditaria with or without myotonia" [UniProt]
synonym: "Gamstorp disease" [UniProt]
xref: MedGen:C0238357
xref: MedGen:C2930895
xref: MedGen:CN074266
xref: MeSH:D020513
xref: MIM:170500 "phenotype"
[Term]
id: DI-00907
name: Periodic paralysis hypokalemic 1
def: "An autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels." []
synonym: "HOKPP" [UniProt]
synonym: "HYPOPP" [UniProt]
synonym: "Westphall disease" [UniProt]
xref: MedGen:C0238358
xref: MedGen:CN031165
xref: MeSH:D020514
xref: MIM:170400 "phenotype"
[Term]
id: DI-00908
name: Periodic paralysis normokalemic
def: "A disorder closely related to hyperkalemic periodic paralysis, but marked by a lack of alterations in potassium levels during attacks of muscle weakness." []
synonym: "Periodic paralysis eukalemic" [UniProt]
xref: MedGen:C1868433
xref: MeSH:D020513
xref: MIM:170500 "phenotype"
[Term]
id: DI-00909
name: Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease
def: "A complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease." []
synonym: "Waardenburg-Shah syndrome neurologic variant" [UniProt]
xref: MedGen:C1836727
xref: MeSH:D006627
xref: MeSH:D011115
xref: MeSH:D014849
xref: MIM:609136 "phenotype"
[Term]
id: DI-00910
name: Periventricular nodular heterotopia 1
def: "A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH1 is an X-linked dominant form. Heterozygous females have normal intelligence but suffer from seizures and various manifestations outside the central nervous system, especially related to the vascular system. Hemizygous affected males die in the prenatal or perinatal period." []
synonym: "BPNH" [UniProt]
synonym: "Familial nodular heterotopia" [UniProt]
synonym: "NHBP" [UniProt]
synonym: "Nodular heterotopia bilateral periventricular" [UniProt]
synonym: "Periventricular heterotopia Ehlers-Danlos variant" [UniProt]
synonym: "Periventricular heterotopia X-linked dominant" [UniProt]
synonym: "Periventricular nodular heterotopia 4" [UniProt]
synonym: "PVNH4" [UniProt]
xref: MedGen:C1845235
xref: MedGen:C1848213
xref: MedGen:C1848214
xref: MeSH:D054091
xref: MIM:300049 "phenotype"
[Term]
id: DI-00911
name: Periventricular nodular heterotopia 2
def: "A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH2 is an autosomal recessive form characterized by microcephaly (small brain), severe developmental delay and recurrent infections. No anomalies extrinsic to the central nervous system, such as dysmorphic features or grossly abnormal endocrine or other conditions, are associated with PVNH2." []
synonym: "ARPHM" [UniProt]
synonym: "Autosomal recessive periventricular nodular heterotopia type 2" [UniProt]
synonym: "Periventricular heterotopia autosomal recessive" [UniProt]
synonym: "Periventricular heterotopia with microcephaly autosomal recessive" [UniProt]
xref: MedGen:C1842563
xref: MeSH:D054091
xref: MIM:608097 "phenotype"
[Term]
id: DI-00913
name: Peroxisome biogenesis disorder complementation group 1
def: "A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS)." []
synonym: "CG1" [UniProt]
synonym: "PBD-CGE" [UniProt]
synonym: "Peroxisome biogenesis disorder complementation group E" [UniProt]
xref: MedGen:C1865803
xref: MedGen:C1865804
xref: MeSH:D018901
xref: MIM:214100 "phenotype"
[Term]
id: DI-00914
name: Peroxisome biogenesis disorder complementation group 3
def: "A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS)." []
synonym: "CG3" [UniProt]
xref: MedGen:C1866340
xref: MeSH:D018901
xref: MIM:614859 "phenotype"
[Term]
id: DI-00915
name: Peroxisome biogenesis disorder complementation group 4
def: "A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS)." []
synonym: "CG4" [UniProt]
synonym: "PBD-CG6" [UniProt]
synonym: "PBD-CGC" [UniProt]
synonym: "Peroxisome biogenesis disorder complementation group 6" [UniProt]
synonym: "Peroxisome biogenesis disorder complementation group C" [UniProt]
xref: MedGen:C1832230
xref: MedGen:C1832231
xref: MedGen:C1832232
xref: MeSH:D018901
xref: MIM:614862 "phenotype"
[Term]
id: DI-00916
name: Peroxisome biogenesis disorder complementation group 5
def: "A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS)." []
synonym: "CG5" [UniProt]
synonym: "PBD-CG10" [UniProt]
synonym: "PBD-CGF" [UniProt]
synonym: "Peroxisome biogenesis disorder complementation group 10" [UniProt]
synonym: "Peroxisome biogenesis disorder complementation group F" [UniProt]
synonym: "Zellweger syndrome 3" [UniProt]
synonym: "ZWS3" [UniProt]
xref: MedGen:C3539010
xref: MedGen:C3553941
xref: MedGen:C3553942
xref: MeSH:D015211
xref: MIM:614866 "phenotype"
[Term]
id: DI-00917
name: Peroxisome biogenesis disorder complementation group 7
def: "A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS)." []
synonym: "CG7" [UniProt]
synonym: "PBD-CGB" [UniProt]
synonym: "Peroxisome biogenesis disorder complementation group B" [UniProt]
xref: MedGen:C1864399
xref: MeSH:D018901
xref: MIM:614870 "phenotype"
[Term]
id: DI-00918
name: Peroxisome biogenesis disorder complementation group 8
def: "A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS)." []
synonym: "CG8" [UniProt]
synonym: "PBD-CGA" [UniProt]
synonym: "Peroxisome biogenesis disorder complementation group A" [UniProt]
xref: MedGen:C3553950
xref: MeSH:D018901
xref: MIM:614872 "phenotype"
[Term]
id: DI-00919
name: Peroxisome biogenesis disorder complementation group 9
def: "A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS)." []
synonym: "CG9" [UniProt]
synonym: "PBD-CGD" [UniProt]
synonym: "Peroxisome biogenesis disorder complementation group D" [UniProt]
xref: MedGen:C1863998
xref: MedGen:C1863999
xref: MeSH:D018901
xref: MIM:614876 "phenotype"
[Term]
id: DI-00920
name: Peroxisome biogenesis disorder complementation group 11
def: "A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS)." []
synonym: "CG11" [UniProt]
synonym: "PBD-CGR" [UniProt]
synonym: "Peroxisome biogenesis disorder complementation group R" [UniProt]
xref: MedGen:C1866351
xref: MedGen:C1866352
xref: MeSH:D018901
xref: MIM:614879 "phenotype"
[Term]
id: DI-00921
name: Peroxisome biogenesis disorder complementation group 12
def: "A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS)." []
synonym: "CG12" [UniProt]
synonym: "PBD-CGG" [UniProt]
synonym: "Peroxisome biogenesis disorder complementation group G" [UniProt]
xref: MedGen:C1864171
xref: MedGen:C1864172
xref: MeSH:D018901
xref: MIM:614882 "phenotype"
[Term]
id: DI-00922
name: Peroxisome biogenesis disorder complementation group 14
def: "A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS)." []
synonym: "CG14" [UniProt]
synonym: "PBD-CGJ" [UniProt]
synonym: "Peroxisome biogenesis disorder complementation group J" [UniProt]
xref: MedGen:C1838299
xref: MedGen:C1838300
xref: MeSH:D018901
xref: MIM:614886 "phenotype"
[Term]
id: DI-00923
name: Peutz-Jeghers syndrome
def: "An autosomal dominant disorder characterized by melanocytic macules of the lips, multiple gastrointestinal hamartomatous polyps and an increased risk for various neoplasms, including gastrointestinal cancer." []
synonym: "Intestinal hamartomatous polyposis" [UniProt]
synonym: "Polyps-and-spots syndrome" [UniProt]
xref: MedGen:C0031269
xref: MeSH:D010580
xref: MIM:175200 "phenotype"
[Term]
id: DI-00924
name: Pfeiffer syndrome
def: "A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known: mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3)." []
synonym: "Acrocephalosyndactyly type 5" [UniProt]
synonym: "ACS V" [UniProt]
synonym: "ACS5" [UniProt]
xref: MedGen:C0220658
xref: MedGen:C1863356
xref: MeSH:D000168
xref: MIM:101600 "phenotype"
[Term]
id: DI-00925
name: Polycystic kidney disease 1 with or without polycystic liver disease
def: "An autosomal dominant disorder characterized by renal cysts, liver cysts and intracranial aneurysm. Clinical variability is due to differences in the rate of loss of glomerular filtration, the age of reaching end-stage renal disease and the occurrence of hypertension, symptomatic extrarenal cysts, and subarachnoid hemorrhage from intracranial 'berry' aneurysm." []
synonym: "ADPKD" [UniProt]
synonym: "ADPKD1" [UniProt]
synonym: "Adult polycystic kidney disease type 1" [UniProt]
synonym: "Autosomal dominant polycystic kidney disease 1" [UniProt]
synonym: "PKD-1" [UniProt]
synonym: "Polycystic kidney disease adult" [UniProt]
synonym: "Polycystic kidney disease type I" [UniProt]
synonym: "Polycystic kidneys" [UniProt]
synonym: "Potter type III polycystic kidney disease" [UniProt]
xref: MedGen:C0085413
xref: MedGen:C1868148
xref: MedGen:C3149841
xref: MeSH:D007690
xref: MeSH:D016891
xref: MIM:173900 "phenotype"
[Term]
id: DI-00926
name: Polycystic kidney disease 2 with or without polycystic liver disease
def: "An autosomal dominant disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end- stage renal disease in adult life. Cysts also occurs in the liver and other organs. It represents approximately 15% of the cases of autosomal dominant polycystic kidney disease. PKD2 is clinically milder than PKD1 but it has a deleterious impact on overall life expectancy." []
synonym: "ADPKD2" [UniProt]
synonym: "Adult polycystic kidney disease type 2" [UniProt]
synonym: "Autosomal dominant polycystic kidney disease 2" [UniProt]
synonym: "PKD-2" [UniProt]
synonym: "Polycystic kidney disease adult type II" [UniProt]
xref: MedGen:C2751306
xref: MeSH:D007690
xref: MeSH:D016891
xref: MIM:613095 "phenotype"
[Term]
id: DI-00927
name: Polycystic kidney disease 4, with or without polycystic liver disease
def: "A severe form of polycystic kidney disease affecting the kidneys and, in some cases, the hepatic biliary tract. The clinical spectrum is widely variable, with most cases presenting during infancy. The fetal phenotypic features classically include enlarged and echogenic kidneys, as well as oligohydramnios secondary to a poor urine output. Up to 50% of the affected neonates die shortly after birth, as a result of severe pulmonary hypoplasia and secondary respiratory insufficiency. In the subset that survives the perinatal period, morbidity and mortality are mainly related to severe systemic hypertension, renal insufficiency, and portal hypertension due to portal-tract fibrosis. PKD4 inheritance is autosomal recessive." []
synonym: "ARPKD" [UniProt]
synonym: "Infantile polycystic kidney disease type I" [UniProt]
synonym: "PKD3" [UniProt]
synonym: "PKHD1" [UniProt]
synonym: "Polycystic kidney and hepatic disease 1" [UniProt]
synonym: "Polycystic kidney disease 4 with or without hepatic disease" [UniProt]
synonym: "Polycystic kidney disease, autosomal recessive" [UniProt]
xref: MedGen:C0009714
xref: MedGen:C0085548
xref: MeSH:D016767
xref: MeSH:D017044
xref: MIM:263200 "phenotype"
[Term]
id: DI-00928
name: Variegate porphyria
def: "A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Variegate porphyria is an acute hepatic form characterized by partial reduction of protoporphyrinogen oxidase activity, increased photosensitivity, skin blistering and scarring of sun-exposed areas, skin hyperpigmentation, abdominal pain, and neuropsychiatric symptoms. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease. Inheritance is autosomal dominant with incomplete penetrance." []
synonym: "Porphyria South African type" [UniProt]
synonym: "Porphyria variegata" [UniProt]
synonym: "PPOX deficiency" [UniProt]
synonym: "Protoporphyrinogen oxidase deficiency" [UniProt]
synonym: "PV" [UniProt]
xref: MedGen:C0162532
xref: MeSH:D046350
xref: MIM:176200 "phenotype"
[Term]
id: DI-00929
name: Ciliary dyskinesia, primary, 1
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome." []
synonym: "ICS1" [UniProt]
synonym: "Immotile cilia syndrome 1" [UniProt]
synonym: "PCD" [UniProt]
synonym: "Primary ciliary dyskinesia" [UniProt]
xref: MedGen:C0022521
xref: MeSH:D002925
xref: MeSH:D007619
xref: MIM:244400 "phenotype"
[Term]
id: DI-00930
name: Ciliary dyskinesia, primary, 3
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome." []
synonym: "Ciliary dyskinesia, primary, 3, with or without situs inversus" [UniProt]
synonym: "ICS3" [UniProt]
synonym: "Immotile cilia syndrome 3" [UniProt]
xref: MedGen:C1837618
xref: MeSH:D007619
xref: MIM:608644 "phenotype"
[Term]
id: DI-00931
name: Ciliary dyskinesia, primary, 6
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome." []
synonym: "ICS6" [UniProt]
synonym: "Immotile cilia syndrome 6" [UniProt]
xref: MedGen:C1970506
xref: MeSH:D007619
xref: MIM:610852 "phenotype"
[Term]
id: DI-00932
name: Ciliary dyskinesia, primary, 7
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome." []
synonym: "ICS7" [UniProt]
synonym: "Immotile cilia syndrome 7" [UniProt]
xref: MedGen:C2678473
xref: MeSH:D007619
xref: MIM:611884 "phenotype"
[Term]
id: DI-00933
name: Ciliary dyskinesia, primary, 9
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome." []
synonym: "ICS9" [UniProt]
synonym: "Immotile cilia syndrome 9" [UniProt]
synonym: "Primary ciliary dyskinesia 9 with or without situs inversus" [UniProt]
xref: MedGen:C2676235
xref: MeSH:D007619
xref: MIM:612444 "phenotype"
[Term]
id: DI-00934
name: Ciliary dyskinesia, primary, 10
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome." []
synonym: "ICS10" [UniProt]
synonym: "Immotile cilia syndrome 10" [UniProt]
synonym: "Primary ciliary dyskinesia 10 with or without situs inversus" [UniProt]
xref: MedGen:C2675867
xref: MeSH:D007619
xref: MIM:612518 "phenotype"
[Term]
id: DI-00935
name: Glaucoma 3, primary congenital, A
def: "An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor." []
synonym: "Buphthalmos" [UniProt]
synonym: "Congenital glaucoma" [UniProt]
synonym: "Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset" [UniProt]
synonym: "Glaucoma, primary open angle, adult-onset" [UniProt]
synonym: "Glaucoma, primary open angle, juvenile-onset" [UniProt]
synonym: "GLC3" [UniProt]
synonym: "Primary congenital glaucoma 3A" [UniProt]
synonym: "Primary infantile glaucoma type 3A" [UniProt]
xref: MedGen:C0020302
xref: MedGen:C1856439
xref: MedGen:C3278153
xref: MeSH:D005901
xref: MIM:231300 "phenotype"
[Term]
id: DI-00936
name: Glaucoma, primary open angle
def: "A complex and genetically heterogeneous ocular disorder characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. In some cases, POAG shows digenic inheritance involving mutations in CYP1B1 and MYOC genes." []
synonym: "Adult-onset primary open angle glaucoma" [UniProt]
xref: MedGen:C0339573
xref: MeSH:D005902
xref: MIM:137760 "phenotype"
[Term]
id: DI-00937
name: Glaucoma 1, open angle, A
def: "A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place." []
synonym: "JOAG1" [UniProt]
synonym: "Juvenile-onset primary open angle glaucoma 1" [UniProt]
synonym: "Primary open angle glaucoma 1A" [UniProt]
xref: MedGen:C1842028
xref: MeSH:D005902
xref: MIM:137750 "phenotype"
[Term]
id: DI-00938
name: Glaucoma 1, open angle, E
def: "A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place." []
synonym: "Adult-onset primary open angle glaucoma" [UniProt]
synonym: "POAG" [UniProt]
synonym: "Primary open angle glaucoma 1E" [UniProt]
xref: MedGen:C1842026
xref: MeSH:D005902
xref: MIM:137760 "phenotype"
[Term]
id: DI-00939
name: Glaucoma 1, open angle, G
def: "A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place." []
synonym: "Primary open angle glaucoma 1G" [UniProt]
xref: MedGen:C1835933
xref: MeSH:D005902
xref: MIM:609887 "phenotype"
[Term]
id: DI-00940
name: Primary pigmented nodular adrenocortical disease 1
def: "A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. PPNAD1 is most often diagnosed in patients with Carney complex, a multiple neoplasia syndrome. However it can also be observed in patients without other manifestations." []
synonym: "Adrenal Cushing syndrome due to PPNAD1" [UniProt]
synonym: "Primary pigmented micronodular adrenocortical disease 1" [UniProt]
synonym: "Primary pigmented nodular adrenocortical disease-1" [UniProt]
xref: MedGen:C1864846
xref: MeSH:D003480
xref: MIM:610489 "phenotype"
[Term]
id: DI-00941
name: Primary pigmented nodular adrenocortical disease 2
def: "A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Adrenal glands show overall normal size and weight, and multiple small yellow- to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there are moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits and massive circumscribed and infiltrating extra-adrenal cortical excrescences with micronodules. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes." []
synonym: "Adrenal Cushing syndrome due to PPNAD2" [UniProt]
synonym: "Primary pigmented micronodular adrenocortical disease 2" [UniProt]
synonym: "Primary pigmented nodular adrenocortical disease-2" [UniProt]
xref: MedGen:C1864851
xref: MeSH:D003480
xref: MIM:610475 "phenotype"
[Term]
id: DI-00942
name: Pulmonary hypertension, primary, 1
def: "A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs." []
xref: MedGen:C0152171
xref: MedGen:C1969342
xref: MedGen:C1969343
xref: MedGen:C2750263
xref: MedGen:C2973725
xref: MeSH:D006976
xref: MIM:178600 "phenotype"
[Term]
id: DI-00943
name: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1
def: "A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism." []
synonym: "Chronic progressive external ophthalmoplegia" [UniProt]
synonym: "CPEO" [UniProt]
synonym: "Graefe disease" [UniProt]
synonym: "Mitochondrial ocular myopathy" [UniProt]
synonym: "Ocular myopathy of von Graefe-Fuchs" [UniProt]
synonym: "Progressive external ophthalmoplegia autosomal dominant" [UniProt]
xref: MedGen:C1834846
xref: MeSH:D017246
xref: MIM:157640 "phenotype"
[Term]
id: DI-00944
name: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2
def: "A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism." []
synonym: "Chronic progressive external ophthalmoplegia" [UniProt]
synonym: "CPEO" [UniProt]
synonym: "Graefe disease" [UniProt]
synonym: "Mitochondrial ocular myopathy" [UniProt]
synonym: "Ocular myopathy of von Graefe-Fuchs" [UniProt]
synonym: "Progressive external ophthalmoplegia autosomal dominant 2" [UniProt]
xref: MedGen:C1836460
xref: MeSH:D017246
xref: MIM:609283 "phenotype"
[Term]
id: DI-00945
name: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3
def: "A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism." []
synonym: "Chronic progressive external ophthalmoplegia" [UniProt]
synonym: "CPEO" [UniProt]
synonym: "Graefe disease" [UniProt]
synonym: "Mitochondrial ocular myopathy" [UniProt]
synonym: "Ocular myopathy of von Graefe-Fuchs" [UniProt]
synonym: "Progressive external ophthalmoplegia autosomal dominant 3" [UniProt]
xref: MedGen:C1836439
xref: MeSH:D017246
xref: MIM:609286 "phenotype"
[Term]
id: DI-00946
name: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4
def: "A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism." []
synonym: "Chronic progressive external ophthalmoplegia" [UniProt]
synonym: "CPEO" [UniProt]
synonym: "Graefe disease" [UniProt]
synonym: "Mitochondrial ocular myopathy" [UniProt]
synonym: "Ocular myopathy of von Graefe-Fuchs" [UniProt]
synonym: "Progressive external ophthalmoplegia autosomal dominant 4" [UniProt]
xref: MedGen:C1864668
xref: MeSH:D017246
xref: MIM:610131 "phenotype"
[Term]
id: DI-00947
name: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1
def: "A severe form of progressive external ophthalmoplegia, a disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. It is clinically more heterogeneous than the autosomal dominant forms." []
synonym: "Chronic progressive external ophthalmoplegia" [UniProt]
synonym: "CPEO" [UniProt]
synonym: "Graefe disease" [UniProt]
synonym: "Mitochondrial ocular myopathy" [UniProt]
synonym: "Ocular myopathy of von Graefe-Fuchs" [UniProt]
synonym: "Progressive external ophthalmoplegia autosomal recessive" [UniProt]
xref: MedGen:C1850303
xref: MeSH:D017246
xref: MIM:258450 "phenotype"
[Term]
id: DI-00948
name: Progressive familial heart block 1A
def: "A cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death." []
synonym: "Bundle branch block" [UniProt]
synonym: "Cardiac conduction defect" [UniProt]
synonym: "HBBD" [UniProt]
synonym: "Hereditary bundle branch system defect" [UniProt]
synonym: "Lenegre-Lev disease" [UniProt]
synonym: "PCCD" [UniProt]
synonym: "PFHBIA" [UniProt]
synonym: "Progressive cardiac conduction defect" [UniProt]
synonym: "Progressive familial heart block type I" [UniProt]
synonym: "Progressive familial heart block type IA" [UniProt]
xref: MedGen:C1861983
xref: MedGen:C1861984
xref: MedGen:C1879286
xref: MedGen:C2931045
xref: MeSH:D002037
xref: MIM:113900 "phenotype"
[Term]
id: DI-00949
name: Cholestasis, progressive familial intrahepatic, 1
def: "A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC1 inheritance is autosomal recessive." []
synonym: "Byler disease" [UniProt]
synonym: "Fatal intrahepatic cholestasis" [UniProt]
xref: MedGen:C0268312
xref: MeSH:D002780
xref: MIM:211600 "phenotype"
[Term]
id: DI-00950
name: Cholestasis, progressive familial intrahepatic, 2
def: "A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC2 inheritance is autosomal recessive." []
xref: MedGen:C1866138
xref: MedGen:C3489789
xref: MeSH:D002780
xref: MIM:601847 "phenotype"
[Term]
id: DI-00951
name: Cholestasis, progressive familial intrahepatic, 3
def: "A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC3 inheritance is autosomal recessive." []
synonym: "MDR3 deficiency" [UniProt]
synonym: "Progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase" [UniProt]
xref: MedGen:C1865643
xref: MeSH:D002780
xref: MIM:602347 "phenotype"
[Term]
id: DI-00952
name: Epilepsy, progressive myoclonic 1
def: "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM1 is an autosomal recessive form characterized by severe, stimulus- sensitive myoclonus and tonic-clonic seizures. The onset, occurring between 6 and 13 years of age, is characterized by convulsions. Myoclonus begins 1 to 5 years later. The twitchings occur predominantly in the proximal muscles of the extremities and are bilaterally symmetrical, although asynchronous. At first small, they become late in the clinical course so violent that the victim is thrown to the floor. Mental deterioration and eventually dementia develop." []
synonym: "Baltic myoclonic epilepsy" [UniProt]
synonym: "EPM1A" [UniProt]
synonym: "Myoclonic epilepsy of Unverricht and Lundborg" [UniProt]
synonym: "Progressive myoclonic epilepsy 1" [UniProt]
synonym: "Progressive myoclonic epilepsy 1A" [UniProt]
synonym: "Progressive myoclonic epilepsy Unverricht-Lundborg type" [UniProt]
synonym: "ULD" [UniProt]
xref: MedGen:C0751785
xref: MeSH:D020191
xref: MIM:254800 "phenotype"
[Term]
id: DI-00953
name: Epilepsy, progressive myoclonic 1B
def: "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM1B is an autosomal recessive form characterized by myoclonus that progressed in severity over time, tonic-clonic seizures and ataxia." []
xref: MedGen:C2676254
xref: MeSH:D020191
xref: MIM:612437 "phenotype"
[Term]
id: DI-00954
name: Myoclonic epilepsy of lafora 1
def: "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. MELF1 is an autosomal recessive, severe form characterized by onset of progressive neurodegeneration between 8 and 18 years of age. Initial features can include headache, myoclonic jerks, generalized seizures, and often visual hallucination. Typically, as seizures increase in frequency, cognitive function declines towards dementia, and affected individuals die usually within 10 years after onset. At the cellular level, MELF1 is characterized by accumulation of starch-like polyglucosans called Lafora bodies (LBs) that are most abundant in organs with the highest glucose metabolism: brain, heart, liver and skeletal muscle." []
synonym: "Epilepsy, progressive myoclonic 2A" [UniProt]
synonym: "EPM2" [UniProt]
synonym: "EPM2A" [UniProt]
synonym: "Lafora disease" [UniProt]
synonym: "Lafora's disease" [UniProt]
synonym: "LD" [UniProt]
synonym: "MELF" [UniProt]
synonym: "Myoclonic epilepsy of Lafora" [UniProt]
synonym: "Progressive myoclonic epilepsy 2" [UniProt]
synonym: "Progressive myoclonic epilepsy 2A" [UniProt]
synonym: "Progressive myoclonic epilepsy Lafora type" [UniProt]
xref: MedGen:C0751783
xref: MedGen:C1850764
xref: MeSH:D020192
xref: MIM:254780 "phenotype"
[Term]
id: DI-00955
name: Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
def: "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM3 is an autosomal recessive, severe, form with early onset. Multifocal myoclonic seizures begin between 16 and 24 months of age after normal initial development. Neurodegeneration and regression occur with seizure onset. Other features include intellectual disability, dysarthria, truncal ataxia, and loss of fine finger movements. EEG shows slow dysrhythmia, multifocal and occasionally generalized epileptiform discharges. In some patients, ultrastructural findings on skin biopsies identify intracellular accumulation of autofluorescent lipopigment storage material, consistent with neuronal ceroid lipofuscinosis." []
synonym: "CLN14" [UniProt]
synonym: "Neuronal ceroid lipofuscinosis 14" [UniProt]
synonym: "Progressive myoclonic epilepsy 3" [UniProt]
xref: MedGen:C2673257
xref: MeSH:D009472
xref: MeSH:D020191
xref: MIM:611726 "phenotype"
[Term]
id: DI-00956
name: Thrombophilia due to protein C deficiency, autosomal dominant
def: "A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. Individuals with decreased amounts of protein C are classically referred to as having type I protein C deficiency and those with normal amounts of a functionally defective protein as having type II deficiency." []
synonym: "PROC deficiency autosomal dominant" [UniProt]
synonym: "Protein C deficiency autosomal dominant" [UniProt]
xref: MedGen:C2674321
xref: MedGen:C2674322
xref: MeSH:D019851
xref: MeSH:D020151
xref: MIM:176860 "phenotype"
[Term]
id: DI-00957
name: Thrombophilia due to protein C deficiency, autosomal recessive
def: "A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. It results in a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia. The severe form leads to neonatal death through massive neonatal venous thrombosis. Often associated with ecchymotic skin lesions which can turn necrotic called purpura fulminans, this disorder is very rare." []
synonym: "PROC deficiency autosomal recessive" [UniProt]
synonym: "Protein C deficiency autosomal recessive" [UniProt]
xref: MedGen:C2676759
xref: MeSH:D019851
xref: MeSH:D020151
xref: MIM:612304 "phenotype"
[Term]
id: DI-00958
name: Thrombophilia due to protein S deficiency, autosomal dominant
def: "A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. Based on the plasma levels of total and free PROS1 as well as the serine protease-activated protein C cofactor activity, three types of THPH5 have been described: type I, characterized by reduced total and free PROS1 levels together with reduced anticoagulant activity; type III, in which only free PROS1 antigen and PROS1 activity levels are reduced; and the rare type II which is characterized by normal concentrations of both total and free PROS1 antigen, but low cofactor activity." []
synonym: "Thrombophilia autosomal dominant due to protein S deficiency" [UniProt]
synonym: "Thrombophilia autosomal recessive due to protein S deficiency" [UniProt]
xref: MedGen:C2676728
xref: MedGen:C3278211
xref: MeSH:D018455
xref: MIM:612336 "phenotype"
[Term]
id: DI-00959
name: Pseudoxanthoma elasticum
def: "A multisystem disorder characterized by accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Burch membrane in the eye. Clinically, patients exhibit characteristic lesions of the posterior segment of the eye including peau d'orange, angioid streaks, and choroidal neovascularizations, of the skin including soft, ivory colored papules in a reticular pattern that predominantly affect the neck and large flexor surfaces, and of the cardiovascular system with peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings." []
synonym: "Gronblad-Strandberg syndrome" [UniProt]
synonym: "Gronblad-Strandberg-Touraine syndrome" [UniProt]
xref: MedGen:C0033847
xref: MedGen:C0376359
xref: MedGen:C3279392
xref: MedGen:C3279393
xref: MeSH:D011561
xref: MIM:264800 "phenotype"
[Term]
id: DI-00960
name: Pulmonary surfactant metabolism dysfunction 1
def: "A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress." []
synonym: "Congenital pulmonary alveolar proteinosis 1" [UniProt]
synonym: "Interstitial lung disease due to surfactant protein B deficiency" [UniProt]
synonym: "Interstitial lung disease non-specific due to surfactant protein B deficiency" [UniProt]
synonym: "PAP" [UniProt]
xref: MedGen:C1968602
xref: MeSH:D011649
xref: MIM:265120 "phenotype"
[Term]
id: DI-00961
name: Pulmonary surfactant metabolism dysfunction 2
def: "A rare disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course, due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress." []
synonym: "Congenital pulmonary alveolar proteinosis 2" [UniProt]
synonym: "Desquamative interstitial pneumonitis due to surfactant protein C deficiency" [UniProt]
synonym: "Interstitial lung disease due to surfactant protein C deficiency" [UniProt]
synonym: "PAP" [UniProt]
xref: MedGen:C1970470
xref: MeSH:D011649
xref: MIM:610913 "phenotype"
[Term]
id: DI-00962
name: Pulmonary surfactant metabolism dysfunction 3
def: "A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress." []
synonym: "Congenital pulmonary alveolar proteinosis 3" [UniProt]
synonym: "Interstitial lung disease due to ABCA3 deficiency" [UniProt]
synonym: "PAP" [UniProt]
xref: MedGen:C1970456
xref: MeSH:D011649
xref: MIM:610921 "phenotype"
[Term]
id: DI-00963
name: Pulmonary surfactant metabolism dysfunction 4
def: "A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress." []
synonym: "Congenital pulmonary alveolar proteinosis 4" [UniProt]
synonym: "CSF2RA deficiency" [UniProt]
synonym: "PAP" [UniProt]
synonym: "PAP due to CSF2RA deficiency" [UniProt]
xref: MedGen:C2677877
xref: MeSH:D011649
xref: MIM:300770 "phenotype"
[Term]
id: DI-00964
name: Pycnodysostosis
def: "A rare autosomal recessive bone disorder characterized by deformity of the skull, maxilla and phalanges, osteosclerosis, and fragility of bone." []
xref: MedGen:C0238402
xref: MeSH:D058631
xref: MIM:265800 "phenotype"
[Term]
id: DI-00965
name: Pyruvate kinase deficiency of red cells
def: "A frequent cause of hereditary non-spherocytic hemolytic anemia. Clinically, pyruvate kinase-deficient patients suffer from a highly variable degree of chronic hemolysis, ranging from severe neonatal jaundice and fatal anemia at birth, severe transfusion-dependent chronic hemolysis, moderate hemolysis with exacerbation during infection, to a fully compensated hemolysis without apparent anemia." []
synonym: "Hemolytic anemia due to red cell pyruvate kinase deficiency" [UniProt]
synonym: "Hereditary non-spherocytic hemolytic anemia due to pyruvate kinase deficiency" [UniProt]
synonym: "HNSHA" [UniProt]
synonym: "PK deficiency" [UniProt]
synonym: "Pyruvate kinase deficiency of erythrocyte" [UniProt]
synonym: "Pyruvate kinase-deficient hemolytic anemia" [UniProt]
synonym: "Red cell pyruvate kinase deficiency" [UniProt]
xref: MedGen:C0340968
xref: MedGen:C1849472
xref: MeSH:D000746
xref: MIM:266200 "phenotype"
[Term]
id: DI-00966
name: Refsum disease
def: "A rare autosomal recessive peroxisomal disorder characterized by the accumulation of the branched-chain fatty acid, phytanic acid, in blood and tissues. Cardinal clinical features are retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF). Half of all patients exhibit generalized, mild to moderate ichthyosis resembling ichthyosis vulgaris. Less constant features are nerve deafness, anosmia, skeletal abnormalities, cataracts and cardiac impairment." []
synonym: "Hereditary motor and sensory neuropathy IV" [UniProt]
synonym: "Heredopathia atactica polyneuritiformis" [UniProt]
synonym: "HMSN IV" [UniProt]
synonym: "HMSN4" [UniProt]
synonym: "Phytanic acid oxidase deficiency" [UniProt]
synonym: "Refsum's disease" [UniProt]
xref: MedGen:C0034960
xref: MedGen:C2749345
xref: MeSH:D012035
xref: MIM:266500 "phenotype"
[Term]
id: DI-00967
name: Renal cysts and diabetes syndrome
def: "An autosomal dominant disorder comprising non-diabetic renal disease resulting from abnormal renal development, and diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY5). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelves, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricemic nephropathy. Affected individuals may also have abnormalities of the genital tract." []
synonym: "ADTKD3" [UniProt]
synonym: "Atypical familial juvenile hyperuricemic nephropathy" [UniProt]
synonym: "Atypical FJHN" [UniProt]
synonym: "CAKUT with diabetes" [UniProt]
synonym: "Congenital anomalies of the kidney and urinary tract with diabetes" [UniProt]
synonym: "Familial hypoplastic glomerulocystic kidney" [UniProt]
synonym: "Glomerulocystic kidney disease hypoplastic type" [UniProt]
synonym: "Maturity-onset diabetes of the young type 5" [UniProt]
synonym: "MODY5" [UniProt]
synonym: "Renal-diabetes MODY5 syndrome" [UniProt]
synonym: "Tubulointerstitial kidney disease, autosomal dominant, 3" [UniProt]
xref: MedGen:C0431693
xref: MeSH:D003924
xref: MIM:137920 "phenotype"
[Term]
id: DI-00968
name: Macular dystrophy, retinal, 2
def: "An autosomal dominant retinal disease characterized by dyschromatopsia, gradual progressive loss of central visual acuity, and bilateral annular atrophy of retinal pigment epithelium at the macula." []
xref: MedGen:C0339512
xref: MeSH:D008268
xref: MIM:608051 "phenotype"
[Term]
id: DI-00969
name: Retinitis pigmentosa
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Retinitis pigmentosa can be inherited as an autosomal dominant, autosomal recessive or X-linked condition." []
synonym: "Non-syndromic retinitis pigmentosa" [UniProt]
synonym: "RCD" [UniProt]
synonym: "Rod-cone dystrophy" [UniProt]
xref: MedGen:C0035334
xref: MeSH:D012174
xref: MIM:268000 "phenotype"
[Term]
id: DI-00971
name: Retinitis pigmentosa 1
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C0220701
xref: MeSH:D012174
xref: MIM:180100 "phenotype"
[Term]
id: DI-00972
name: Retinitis pigmentosa 2
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
synonym: "X-linked retinitis pigmentosa 2" [UniProt]
synonym: "XLRP-2" [UniProt]
synonym: "XLRP2" [UniProt]
xref: MedGen:C2681923
xref: MeSH:D012174
xref: MIM:312600 "phenotype"
[Term]
id: DI-00973
name: Retinitis pigmentosa 3
def: "An X-linked retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. In RP3, affected males have a severe phenotype, and carrier females show a wide spectrum of clinical features ranging from completely asymptomatic to severe retinitis pigmentosa. Heterozygous women can manifest a form of choroidoretinal degeneration which is distinguished from other types by the absence of visual defects in the presence of a brilliant, scintillating, golden-hued, patchy appearance most striking around the macula, called a tapetal-like retinal reflex." []
synonym: "Choroidoretinal degeneration with retinal reflex in heterozygous women" [UniProt]
synonym: "Retinitis pigmentosa 15" [UniProt]
synonym: "Retinitis pigmentosa type 15" [UniProt]
synonym: "RP15" [UniProt]
synonym: "X-linked cone-rod degeneration" [UniProt]
synonym: "X-linked retinitis pigmentosa 3" [UniProt]
synonym: "XLRP-3" [UniProt]
synonym: "XLRP3" [UniProt]
xref: MedGen:C1845667
xref: MedGen:C1848295
xref: MeSH:D012174
xref: MIM:300029 "phenotype"
[Term]
id: DI-00974
name: Retinitis pigmentosa 4
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C3151001
xref: MeSH:D012174
xref: MIM:613731 "phenotype"
[Term]
id: DI-00975
name: Retinitis pigmentosa 7
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
synonym: "Retinitis pigmentosa 7 digenic" [UniProt]
xref: MedGen:C1842475
xref: MedGen:C2675552
xref: MedGen:C2675553
xref: MeSH:D012174
xref: MIM:608133 "phenotype"
[Term]
id: DI-00976
name: Retinitis pigmentosa 9
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C1867300
xref: MeSH:D012174
xref: MIM:180104 "phenotype"
[Term]
id: DI-00977
name: Retinitis pigmentosa 10
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C1867299
xref: MeSH:D012174
xref: MIM:180105 "phenotype"
[Term]
id: DI-00978
name: Retinitis pigmentosa 11
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C1838601
xref: MeSH:D012174
xref: MIM:600138 "phenotype"
[Term]
id: DI-00979
name: Retinitis pigmentosa 12
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia." []
synonym: "Retinitis pigmentosa with or without paraarteriolar preservation of retinal pigment epithelium" [UniProt]
synonym: "RP with or without PPRPE" [UniProt]
synonym: "RP with or without preserved paraarteriole retinal pigment epithelium" [UniProt]
xref: MedGen:C1838647
xref: MeSH:D012174
xref: MIM:600105 "phenotype"
[Term]
id: DI-00980
name: Retinitis pigmentosa 13
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C1838702
xref: MeSH:D012174
xref: MIM:600059 "phenotype"
[Term]
id: DI-00981
name: Retinitis pigmentosa 14
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
synonym: "Retinitis pigmentosa juvenile TULP1-related" [UniProt]
xref: MedGen:C1838603
xref: MeSH:D012174
xref: MIM:600132 "phenotype"
[Term]
id: DI-00983
name: Retinitis pigmentosa 17
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C1833245
xref: MeSH:D012174
xref: MIM:600852 "phenotype"
[Term]
id: DI-00984
name: Retinitis pigmentosa 18
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C1832378
xref: MeSH:D012174
xref: MIM:601414 "phenotype"
[Term]
id: DI-00985
name: Retinitis pigmentosa 19
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP19 is characterized by choroidal atrophy." []
xref: MedGen:C1866422
xref: MeSH:D012174
xref: MIM:601718 "phenotype"
[Term]
id: DI-00986
name: Retinitis pigmentosa 20
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C3151086
xref: MeSH:D012174
xref: MIM:613794 "phenotype"
[Term]
id: DI-00987
name: Retinitis pigmentosa 25
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C1864446
xref: MeSH:D012174
xref: MIM:602772 "phenotype"
[Term]
id: DI-00988
name: Retinitis pigmentosa 26
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C1842127
xref: MeSH:D012174
xref: MIM:608380 "phenotype"
[Term]
id: DI-00989
name: Retinitis pigmentosa 27
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C1834329
xref: MeSH:D012174
xref: MIM:613750 "phenotype"
[Term]
id: DI-00990
name: Retinitis pigmentosa 30
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C1842816
xref: MeSH:D012174
xref: MIM:607921 "phenotype"
[Term]
id: DI-00991
name: Retinitis pigmentosa 31
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C1835923
xref: MeSH:D012174
xref: MIM:609923 "phenotype"
[Term]
id: DI-00992
name: Retinitis pigmentosa 35
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C1853214
xref: MeSH:D012174
xref: MIM:610282 "phenotype"
[Term]
id: DI-00993
name: Retinitis pigmentosa 37
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C1970163
xref: MeSH:D012174
xref: MIM:611131 "phenotype"
[Term]
id: DI-00994
name: Retinitis pigmentosa 39
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C3151138
xref: MeSH:D012174
xref: MIM:613809 "phenotype"
[Term]
id: DI-00995
name: Retinitis pigmentosa 41
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
synonym: "Retinal degeneration autosomal recessive prominin-related" [UniProt]
xref: MedGen:C2677516
xref: MeSH:D012174
xref: MIM:612095 "phenotype"
[Term]
id: DI-00996
name: Retinitis pigmentosa 46
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
synonym: "Retinitis pigmentosa autosomal recessive IDH3B-related" [UniProt]
xref: MedGen:C2675496
xref: MeSH:D012174
xref: MIM:612572 "phenotype"
[Term]
id: DI-00997
name: Retinitis pigmentosa, X-linked, and sinorespiratory infections with or without deafness
def: "A disease characterized by the association of retinitis pigmentosa with recurrent upper and lower airway infections. Some patients also develop progressive hearing loss." []
synonym: "Retinitis pigmentosa and sinorespiratory infections with or without deafness" [UniProt]
synonym: "RPDSI" [UniProt]
synonym: "X-linked retinitis pigmentosa with deafness and sinorespiratory infections" [UniProt]
xref: MedGen:C2749137
xref: MeSH:D002925
xref: MIM:300455 "phenotype"
[Term]
id: DI-00998
name: Dyskeratosis congenita, autosomal dominant, 5
def: "A disease characterized by bone marrow hypoplasia, nail dystrophy, fine sparse hair, fine reticulate skin pigmentation, oral leukoplakia, bilateral exudative retinopathy, cerebellar hypoplasia, and growth retardation." []
synonym: "Exudative retinopathy with bone marrow failure" [UniProt]
synonym: "Revesz Debuse syndrome" [UniProt]
synonym: "Revesz syndrome" [UniProt]
xref: MedGen:C1327916
xref: MeSH:D012164
xref: MeSH:D019871
xref: MIM:268130 "phenotype"
[Term]
id: DI-00999
name: Rett syndrome
def: "An X-linked dominant neurodevelopmental disorder, and one of the most common causes of intellectual disability in females. Patients appear to develop normally until 6 to 18 months of age, then gradually lose speech and purposeful hand movements, and develop microcephaly, seizures, autism, ataxia, intellectual disability and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood." []
synonym: "Autism-dementia-ataxia-loss of purposeful hand use" [UniProt]
synonym: "Rett disorder" [UniProt]
synonym: "Rett syndrome preserved speech variant" [UniProt]
synonym: "Rett syndrome Zappella variant" [UniProt]
synonym: "RTS" [UniProt]
xref: MedGen:C0035372
xref: MedGen:C1839332
xref: MedGen:C2677682
xref: MedGen:C2748910
xref: MeSH:D015518
xref: MIM:312750 "phenotype"
[Term]
id: DI-01000
name: Rhegmatogenous retinal detachment autosomal dominant
def: "A eye disease that most frequently results from a break or tear in the retina that allows fluid from the vitreous humor to enter the potential space beneath the retina. It is often associated with pathologic myopia and in most cases leads to visual impairment or blindness if untreated." []
xref: MedGen:C1836081
xref: MeSH:D012163
xref: MIM:609508 "phenotype"
[Term]
id: DI-01001
name: Rhizomelic chondrodysplasia punctata 1
def: "A peroxisome biogenesis disorder. It is characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe intellectual disability with spasticity." []
synonym: "CDPR" [UniProt]
synonym: "Chondrodysplasia punctata, rhizomelic form" [UniProt]
synonym: "Chondrodystrophia calcificans punctata" [UniProt]
synonym: "PBD9" [UniProt]
synonym: "Peroxisome biogenesis disorder 9" [UniProt]
synonym: "Rhizomelic chondrodysplasia punctata, type 1" [UniProt]
xref: MedGen:C1859133
xref: MeSH:D018902
xref: MIM:215100 "phenotype"
[Term]
id: DI-01002
name: Rhizomelic chondrodysplasia punctata 2
def: "A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe intellectual disability with spasticity." []
synonym: "Chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate acyltransferase deficiency" [UniProt]
synonym: "DHAPAT deficiency" [UniProt]
synonym: "Dihydroxyacetonephosphate acyltransferase deficiency" [UniProt]
synonym: "Glyceronephosphate O-acyltransferase deficiency" [UniProt]
synonym: "GNPAT deficiency" [UniProt]
synonym: "Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency" [UniProt]
synonym: "Rhizomelic chondrodysplasia punctata, type 2" [UniProt]
xref: MedGen:C1857242
xref: MeSH:D018902
xref: MIM:222765 "phenotype"
[Term]
id: DI-01003
name: Rhizomelic chondrodysplasia punctata 3
def: "A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe intellectual disability with spasticity." []
synonym: "AGPS deficiency" [UniProt]
synonym: "Alkyldihydroxyacetonephosphate synthase deficiency" [UniProt]
synonym: "Alkylglycerone-phosphate synthase deficiency" [UniProt]
synonym: "Rhizomelic chondrodysplasia punctata, type 3" [UniProt]
xref: MedGen:C1838612
xref: MeSH:D018902
xref: MIM:600121 "phenotype"
[Term]
id: DI-01004
name: Robinow-Sorauf syndrome
def: "An autosomal dominant syndrome characterized by craniosynostosis, asymmetry of orbits, flat face, hypertelorism, a thin, long, and pointed nose, shallow orbits, strabismus, and broad great toes with a duplication of the distal phalanx. RSS is clinically similar to Saethre-Chotzen syndrome, with the most characteristic additional feature in Robinow-Sorauf syndrome being a bifid or partially duplicated hallux." []
synonym: "Acrocephalosyndactyly Robinow-Sorauf type" [UniProt]
synonym: "Craniosynostosis-bifid hallux syndrome" [UniProt]
xref: MedGen:C1867146
xref: MeSH:D000168
xref: MIM:180750 "phenotype"
[Term]
id: DI-01005
name: Rod-cone dystrophy Newfoundland
def: "A rod-cone dystrophy reminiscent of retinitis punctata albescens but with a substantially lower age at onset and more-rapid and distinctive progression. Rod-cone dystrophies results from initial loss of rod photoreceptors, later followed by cone photoreceptors loss." []
xref: MedGen:C1843815
xref: MeSH:D012174
xref: MIM:607476 "phenotype"
[Term]
id: DI-01006
name: Saethre-Chotzen syndrome
def: "A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly." []
synonym: "Acrocephalosyndactyly type 3" [UniProt]
synonym: "ACS III" [UniProt]
synonym: "ACS3" [UniProt]
xref: MedGen:C0175699
xref: MedGen:C1863370
xref: MedGen:C1863371
xref: MeSH:D000168
xref: MIM:101400 "phenotype"
[Term]
id: DI-01007
name: Sclerosteosis 1
def: "An autosomal recessive sclerosing bone dysplasia characterized by a generalized hyperostosis and sclerosis leading to a markedly thickened skull, with mandible, ribs, clavicles and all long bones also being affected. Due to narrowing of the foramina of the cranial nerves, facial nerve palsy, hearing loss and atrophy of the optic nerves can occur. Sclerosteosis is clinically and radiologically very similar to van Buchem disease, mainly differentiated by hand malformations and a large stature in sclerosteosis patients." []
synonym: "Cortical hyperostosis with syndactyly" [UniProt]
synonym: "Sclerosteosis" [UniProt]
synonym: "SOST" [UniProt]
xref: MedGen:C0265301
xref: MeSH:D015576
xref: MIM:269500 "phenotype"
[Term]
id: DI-01008
name: Seckel syndrome 1
def: "A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability." []
synonym: "Bird-headed dwarfism" [UniProt]
synonym: "Microcephalic primordial dwarfism I" [UniProt]
synonym: "Nanocephalic dwarfism" [UniProt]
synonym: "Seckel-type dwarfism" [UniProt]
xref: MedGen:C0265202
xref: MeSH:D004392
xref: MeSH:D008831
xref: MIM:210600 "phenotype"
[Term]
id: DI-01009
name: Senior-Loken syndrome 1
def: "A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life." []
synonym: "Juvenile nephronophthisis with Leber amaurosis" [UniProt]
synonym: "Renal dysplasia and retinal aplasia" [UniProt]
xref: MedGen:C0403553
xref: MeSH:D052177
xref: MeSH:D057130
xref: MIM:266900 "phenotype"
[Term]
id: DI-01010
name: Senior-Loken syndrome 4
def: "A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life." []
xref: MedGen:C1846979
xref: MeSH:D052177
xref: MeSH:D057130
xref: MIM:606996 "phenotype"
[Term]
id: DI-01011
name: Senior-Loken syndrome 5
def: "A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life." []
xref: MedGen:C1836517
xref: MeSH:D052177
xref: MeSH:D057130
xref: MIM:609254 "phenotype"
[Term]
id: DI-01012
name: Senior-Loken syndrome 6
def: "A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life." []
xref: MedGen:C1857779
xref: MeSH:D052177
xref: MeSH:D057130
xref: MIM:610189 "phenotype"
[Term]
id: DI-01013
name: Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy
def: "An autosomal dominant sensorineural deafness associated with hypertrophic cardiomyopathy." []
xref: MedGen:C3149009
xref: MeSH:D002312
xref: MeSH:D006319
xref: MIM:606346 "phenotype"
[Term]
id: DI-01014
name: Sensory ataxic neuropathy dysarthria and ophthalmoparesis
def: "A systemic disorder resulting from mitochondrial dysfunction associated with mitochondrial depletion in skeletal muscle and peripheral nerve tissue. The clinical triad of symptoms consists of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. However, the phenotype varies widely, even within the same family, and can also include myopathy, seizures, and hearing loss." []
synonym: "MIRAS" [UniProt]
synonym: "Mitochondrial recessive ataxia syndrome" [UniProt]
synonym: "Mitochondrial spinocerebellar ataxia-epilepsy syndrome" [UniProt]
synonym: "MSCAE" [UniProt]
synonym: "SCAE" [UniProt]
synonym: "Sensory ataxic neuropathy with mitochondrial DNA deletions autosomal recessive" [UniProt]
synonym: "Spinocerebellar ataxia with epilepsy" [UniProt]
xref: MedGen:C1843851
xref: MedGen:C1843852
xref: MeSH:D015417
xref: MIM:607459 "phenotype"
[Term]
id: DI-01015
name: Severe combined immunodeficiency Athabaskan type
def: "A variety of SCID with sensitivity to ionizing radiation. A founder mutation has been detected in Athabascan-speaking native Americans, being inherited as an autosomal recessive trait. Affected individuals exhibit clinical symptoms and defects in DNA repair comparable to those seen in RS-SCID." []
xref: MedGen:C1865371
xref: MedGen:C1865372
xref: MeSH:D016511
xref: MIM:602450 "phenotype"
[Term]
id: DI-01016
name: Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency
def: "An autosomal recessive disorder accounting for about 50% of non-X- linked SCIDs. SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell- mediated cellular immunity due to a defect in T-cell development. ADA deficiency has been diagnosed in chronically ill teenagers and adults (late or adult onset). Population and newborn screening programs have also identified several healthy individuals with normal immunity who have partial ADA deficiency." []
synonym: "ADA deficiency" [UniProt]
synonym: "Adenosine deaminase deficiency" [UniProt]
synonym: "SCID due to ADA deficiency" [UniProt]
synonym: "Severe combined immunodeficiency autosomal recessive T-cell negative/B-cell negative/NK-cell negative due to adenosine deaminase deficiency" [UniProt]
synonym: "Severe combined immunodeficiency autosomal recessive T-cell-negative/B cell-negative/NK cell-negative due to adenosine deaminase deficiency" [UniProt]
synonym: "Severe combined immunodeficiency due to ADA deficiency" [UniProt]
xref: MedGen:C1863236
xref: MedGen:C1863237
xref: MedGen:C1863238
xref: MedGen:C1863239
xref: MeSH:D016511
xref: MIM:102700 "phenotype"
[Term]
id: DI-01017
name: Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative
def: "A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development." []
synonym: "Severe combined immunodeficiency autosomal recessive T cell-negative/B cell-positive/NK cell-negative" [UniProt]
synonym: "Severe combined immunodeficiency autosomal recessive T-cell negative/B-cell positive/NK-cell negative" [UniProt]
xref: MedGen:C1833275
xref: MeSH:D016511
xref: MIM:600802 "phenotype"
[Term]
id: DI-01018
name: Immunodeficiency 104
def: "A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development." []
synonym: "SCIDBNK" [UniProt]
synonym: "Severe combined immunodeficiency autosomal recessive T cell-negative/B cell-positive/NK cell-positive" [UniProt]
synonym: "Severe combined immunodeficiency autosomal recessive T-cell negative/B-cell positive/NK-cell positive" [UniProt]
xref: MedGen:C1837028
xref: MeSH:D016511
xref: MIM:608971 "phenotype"
[Term]
id: DI-01019
name: Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive
def: "A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development." []
synonym: "SCID T cell-negative B cell-negative NK cell-positive" [UniProt]
synonym: "Severe combined immunodeficiency autosomal recessive T cell-negative/B cell-negative/NK cell-positive" [UniProt]
synonym: "Severe combined immunodeficiency autosomal recessive T-cell negative/B-cell negative/NK-cell positive" [UniProt]
xref: MedGen:C1832322
xref: MeSH:D016511
xref: MIM:601457 "phenotype"
[Term]
id: DI-01020
name: Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation
def: "A form of severe combined immunodeficiency, a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. Individuals affected by RS-SCID show defects in the DNA repair machinery necessary for coding joint formation and the completion of V(D)J recombination. A subset of cells from such patients show increased radiosensitivity." []
synonym: "Athabascan SCID" [UniProt]
synonym: "SCIDA" [UniProt]
synonym: "Severe combined immunodeficiency with sensitivity to ionizing radiation" [UniProt]
xref: MedGen:C1865370
xref: MeSH:D016511
xref: MIM:602450 "phenotype"
[Term]
id: DI-01021
name: Immunodeficiency 9
def: "An immune disorder characterized by recurrent infections, impaired activation and proliferative response of T-cells, decreased T-cell production of cytokines, and normal lymphocytes counts and serum immunoglobulin levels. In surviving patients ectodermal dysplasia with anhidrosis and non-progressive myopathy may be observed." []
synonym: "Immune dysfunction with T-cell inactivation due to calcium entry defect 1" [UniProt]
synonym: "Severe combined immunodeficiency due to CRAC channel dysfunction" [UniProt]
xref: MedGen:C2748568
xref: MeSH:D007153
xref: MIM:612782 "phenotype"
[Term]
id: DI-01022
name: Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative
def: "A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development." []
synonym: "Agammaglobulinemia Swiss type" [UniProt]
synonym: "IMD4" [UniProt]
synonym: "Immunodeficiency 4" [UniProt]
synonym: "SCID X-linked" [UniProt]
synonym: "SCIDX" [UniProt]
synonym: "SCIDX1" [UniProt]
synonym: "Severe combined immunodeficiency X-linked T cell-negative/B cell-positive/NK cell-negative" [UniProt]
synonym: "Severe combined immunodeficiency X-linked T-cell negative/B-cell positive/NK-cell negative" [UniProt]
xref: MedGen:C1279481
xref: MedGen:C2931540
xref: MeSH:D016511
xref: MIM:300400 "phenotype"
[Term]
id: DI-01023
name: Dravet syndrome
def: "A severe form of epileptic encephalopathy characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development delay is observed around the second year of life. Some patients manifest a borderline disease phenotype and do not necessarily fulfill all diagnostic criteria for core DRVT. DRVT is considered to be the most severe phenotype within the spectrum of generalized epilepsies with febrile seizures-plus." []
synonym: "Borderline SMEI" [UniProt]
synonym: "DEE6A" [UniProt]
synonym: "Developmental and epileptic encephalopathy 6A" [UniProt]
synonym: "EIEE6" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 6" [UniProt]
synonym: "Severe myoclonic epilepsy in infancy" [UniProt]
synonym: "SMEB" [UniProt]
synonym: "SMEB-M" [UniProt]
synonym: "SMEB-O" [UniProt]
synonym: "SMEB-SW" [UniProt]
synonym: "SMEI" [UniProt]
synonym: "SMEI-borderland" [UniProt]
synonym: "SMEI-borderland more than one feature" [UniProt]
synonym: "SMEI-borderland-myoclonic seizures" [UniProt]
synonym: "SMEI-borderland-spike wave" [UniProt]
xref: MedGen:C0751122
xref: MeSH:D004831
xref: MIM:607208 "phenotype"
[Term]
id: DI-01024
name: Short QT syndrome 1
def: "A form of short QT syndrome, a heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It can cause syncope and sudden death." []
xref: MedGen:C1865020
xref: MeSH:D001145
xref: MIM:609620 "phenotype"
[Term]
id: DI-01025
name: Short QT syndrome 2
def: "An autosomal dominant form of short QT syndrome, a heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It can cause syncope and sudden death." []
xref: MedGen:C1865019
xref: MeSH:D001145
xref: MIM:609621 "phenotype"
[Term]
id: DI-01026
name: Short QT syndrome 3
def: "A form of short QT syndrome, a heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It can cause syncope and sudden death. SQT3 has a unique ECG phenotype characterized by asymmetrical T waves." []
xref: MedGen:C1865018
xref: MeSH:D001145
xref: MIM:609622 "phenotype"
[Term]
id: DI-01027
name: Shprintzen-Goldberg craniosynostosis syndrome
def: "A very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, intellectual disability, developmental delay and learning disabilities." []
synonym: "Craniosynostosis with arachnodactyly and abdominal hernias" [UniProt]
synonym: "Marfanoid craniosynostosis syndrome" [UniProt]
synonym: "Marfanoid disorder with craniosynostosis type I" [UniProt]
xref: MedGen:C1321551
xref: MeSH:D003398
xref: MeSH:D008382
xref: MeSH:D054119
xref: MIM:182212 "phenotype"
[Term]
id: DI-01028
name: Sick sinus syndrome 1
def: "The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. SSS1 onset is in utero, infancy, or early childhood." []
synonym: "Autosomal recessive sick sinus syndrome 1" [UniProt]
synonym: "Congenital absence of sinus rhythm" [UniProt]
synonym: "Familial sinus bradycardia syndrome" [UniProt]
synonym: "Familial sinus node disease autosomal recessive" [UniProt]
synonym: "Sick sinus syndrome, congenital" [UniProt]
synonym: "Sinus bradycardia syndrome, familial" [UniProt]
synonym: "Sinus node disease, familial, autosomal recessive" [UniProt]
xref: MedGen:C1837845
xref: MeSH:D012804
xref: MIM:608567 "phenotype"
[Term]
id: DI-01029
name: Sick sinus syndrome 2
def: "The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. SSS2 onset is in utero or at birth." []
synonym: "Atrial fibrillation with bradyarrhythmia" [UniProt]
synonym: "Autosomal dominant sick sinus syndrome 2" [UniProt]
synonym: "Familial sinus bradycardia syndrome autosomal dominant" [UniProt]
synonym: "Sick sinus syndrome 2 with or without cardiac noncompaction and/or ascending aorta dilation" [UniProt]
synonym: "Sinus bradycardia syndrome, familial, autosomal dominant" [UniProt]
synonym: "Sinus node disease, familial, autosomal dominant" [UniProt]
synonym: "SSS autosomal dominant" [UniProt]
xref: MedGen:C1834144
xref: MeSH:D001281
xref: MeSH:D012804
xref: MIM:163800 "phenotype"
[Term]
id: DI-01030
name: Heterotaxy, visceral, 5, autosomal
def: "An autosomal dominant form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX5 clinical features include situs inversus viscerum or situs ambiguus, congenital heart defect, transposition of the great vessels ventricular septal defect, atrial septal defect, truncus communis, and dextrocardia." []
synonym: "Situs inversus viscerum" [UniProt]
synonym: "SIV" [UniProt]
xref: MedGen:C0037221
xref: MedGen:C3495537
xref: MeSH:D059446
xref: MIM:270100 "phenotype"
[Term]
id: DI-01031
name: Sjoegren-Larsson syndrome
def: "An autosomal recessive neurocutaneous disorder characterized by a combination of severe intellectual disability, spastic di- or tetraplegia and congenital ichthyosis. Ichthyosis is usually evident at birth with varying degrees of erythema and scaling, neurologic symptoms appear in the first or second year of life. Most patients have an IQ of less than 60. Additional clinical features include glistening white spots on the retina, seizures, short stature and speech defects." []
xref: MedGen:C0037231
xref: MeSH:D016111
xref: MIM:270200 "phenotype"
[Term]
id: DI-01032
name: Skin fragility-woolly hair syndrome
def: "An autosomal recessive genodermatosis characterized by skin fragility with blistering, focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the trunk and limbs, and woolly hair with varying degrees of alopecia." []
xref: MedGen:C1843292
xref: MeSH:D006201
xref: MeSH:D012873
xref: MIM:607655 "phenotype"
[Term]
id: DI-01033
name: Smith-Lemli-Opitz syndrome
def: "An autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and intellectual disability. Children with SLOS have elevated serum 7- dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high frequency: approximately 1 in 20,000 to 30,000 births in populations of northern and central European background. Historically, a clinical distinction often was made between classic ('type I') SLOS and the more severely affected ('type II') patients. There is, in reality, a clinical and biochemical continuum from mild to severe SLOS." []
synonym: "RSH syndrome" [UniProt]
synonym: "Rutledge lethal multiple congenital anomaly syndrome" [UniProt]
synonym: "SLO syndrome" [UniProt]
xref: MedGen:C0175694
xref: MedGen:C0282644
xref: MeSH:D019082
xref: MIM:270400 "phenotype"
[Term]
id: DI-01034
name: Smith-McCort dysplasia 1
def: "A rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. It is characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest." []
synonym: "SMC" [UniProt]
synonym: "Smith-McCort dysplasia" [UniProt]
xref: MedGen:C1846431
xref: MeSH:D010009
xref: MIM:607326 "phenotype"
[Term]
id: DI-01035
name: Spastic paraplegia 3, autosomal dominant
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body." []
synonym: "Familial spastic paraplegia autosomal dominant 1" [UniProt]
synonym: "FSP1" [UniProt]
synonym: "SPG3A" [UniProt]
synonym: "Strumpell disease" [UniProt]
synonym: "Strumpell-Lorrain syndrome" [UniProt]
xref: MedGen:C2931355
xref: MedGen:CN074283
xref: MeSH:D015419
xref: MIM:182600 "phenotype"
[Term]
id: DI-01036
name: Spastic paraplegia 4, autosomal dominant
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body." []
synonym: "Familial spastic paraplegia autosomal dominant 2" [UniProt]
synonym: "FSP2" [UniProt]
xref: MedGen:C1866855
xref: MeSH:D015419
xref: MIM:182601 "phenotype"
[Term]
id: DI-01037
name: Spastic paraplegia 6, autosomal dominant
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body." []
synonym: "Familial spastic paraplegia autosomal dominant 3" [UniProt]
synonym: "FSP3" [UniProt]
xref: MedGen:C1838192
xref: MeSH:D015419
xref: MIM:600363 "phenotype"
[Term]
id: DI-01038
name: Spastic paraplegia 8, autosomal dominant
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body." []
xref: MedGen:C1863704
xref: MeSH:D015419
xref: MIM:603563 "phenotype"
[Term]
id: DI-01039
name: Spastic paraplegia 13, autosomal dominant
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body." []
xref: MedGen:C1854467
xref: MeSH:D015419
xref: MIM:605280 "phenotype"
[Term]
id: DI-01040
name: Spastic paraplegia 31, autosomal dominant
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body." []
xref: MedGen:C1853247
xref: MeSH:D015419
xref: MIM:610250 "phenotype"
[Term]
id: DI-01041
name: Spastic paraplegia 33, autosomal dominant
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body." []
xref: MedGen:C1853251
xref: MeSH:D015419
xref: MIM:610244 "phenotype"
[Term]
id: DI-01042
name: Spastic paraplegia 42, autosomal dominant
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body." []
xref: MedGen:C2675528
xref: MeSH:D015419
xref: MIM:612539 "phenotype"
[Term]
id: DI-01043
name: Spastic paraplegia 5A, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body." []
xref: MedGen:C1849115
xref: MeSH:D015419
xref: MIM:270800 "phenotype"
[Term]
id: DI-01044
name: Spastic paraplegia 7, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG7 is a complex form. Additional clinical features are cerebellar syndrome, supranuclear palsy, and cognitive impairment, particularly disturbance of attention and executive functions." []
xref: MedGen:C1846564
xref: MeSH:D015419
xref: MIM:607259 "phenotype"
[Term]
id: DI-01045
name: Spastic paraplegia 11, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body." []
synonym: "ARHSP-TCC" [UniProt]
synonym: "Autosomal recessive spastic paraplegia with thinning of corpus callosum" [UniProt]
synonym: "HSP-TCC" [UniProt]
synonym: "Spastic paraplegia autosomal recessive complicated with thin corpus callosum" [UniProt]
synonym: "Spastic paraplegia autosomal recessive with mental impairment and thin corpus callosum" [UniProt]
xref: MedGen:C1858479
xref: MeSH:D015419
xref: MIM:604360 "phenotype"
[Term]
id: DI-01046
name: Spastic paraplegia 15, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG15 is a complex form associated with additional neurological symptoms such as cognitive deterioration or intellectual disability, axonal neuropathy, mild cerebellar signs, and, less frequently, a central hearing deficit, decreased visual acuity, or retinal degeneration." []
synonym: "Kjellin syndrome" [UniProt]
synonym: "Spastic paraplegia and retinal degeneration" [UniProt]
xref: MedGen:C1849128
xref: MeSH:D015419
xref: MIM:270700 "phenotype"
[Term]
id: DI-01047
name: Spastic paraplegia 20, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG20 is characterized by dysarthria, distal amyotrophy, mild developmental delay and short stature." []
synonym: "Spastic paraparesis childhood-onset with distal muscle wasting" [UniProt]
synonym: "Spastic paraplegia autosomal recessive Troyer type" [UniProt]
synonym: "Troyer syndrome" [UniProt]
synonym: "TRS" [UniProt]
xref: MedGen:C0393559
xref: MeSH:D015419
xref: MIM:275900 "phenotype"
[Term]
id: DI-01048
name: Spastic paraplegia 21, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG21 is associated with dementia and other central nervous system abnormalities. Subtle childhood abnormalities may be present, but the main features develop in early adulthood. The disease is slowly progressive, and cerebellar and extrapyramidal signs are also found in patients with advanced disease. Patients have a thin corpus callosum and white-matter abnormalities." []
synonym: "Mast syndrome" [UniProt]
synonym: "MASTS" [UniProt]
xref: MedGen:C1855346
xref: MeSH:D015419
xref: MIM:248900 "phenotype"
[Term]
id: DI-01049
name: Spastic paraplegia 39, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG39 is associated with a motor axonopathy affecting upper and lower limbs and resulting in progressive wasting of distal upper and lower extremity muscles." []
synonym: "NTE-related motor neuron disorder" [UniProt]
synonym: "NTEMND" [UniProt]
xref: MedGen:C2677586
xref: MeSH:D015419
xref: MIM:612020 "phenotype"
[Term]
id: DI-01050
name: Spastic paraplegia 17, autosomal dominant
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG17 is characterized by prominent amyotrophy of the hand muscles, the presence of mild to severe pyramidal tract signs and spastic paraplegia. SPG17 is a motor neuron disease overlapping with distal spinal muscular atrophy type 5." []
synonym: "Silver spastic paraplegia syndrome" [UniProt]
synonym: "Silver syndrome" [UniProt]
synonym: "Spastic paraplegia with amyotrophy of hands and feet" [UniProt]
xref: MedGen:C2931276
xref: MeSH:D010264
xref: MeSH:D015419
xref: MIM:270685 "phenotype"
[Term]
id: DI-01051
name: Spastic paraplegia 1, X-linked
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body." []
synonym: "Spastic paraplegia 1" [UniProt]
xref: MedGen:C0795953
xref: MeSH:D010264
xref: MeSH:D015419
xref: MIM:303350 "phenotype"
[Term]
id: DI-01052
name: Spastic paraplegia 2, X-linked
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG2 is characterized by spastic gait and hyperreflexia. In some patients, complicating features include nystagmus, dysarthria, sensory disturbance, intellectual disability, optic atrophy." []
synonym: "Spastic paraplegia 2" [UniProt]
synonym: "SPPX2" [UniProt]
xref: MedGen:C1839264
xref: MeSH:D015419
xref: MIM:312920 "phenotype"
[Term]
id: DI-01053
name: Spinal and bulbar muscular atrophy X-linked 1
def: "An X-linked recessive form of spinal muscular atrophy. Spinal muscular atrophy refers to a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAX1 occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. It is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia. The disorder is clinically similar to classic forms of autosomal spinal muscular atrophy." []
synonym: "Bulbospinal muscular atrophy X-linked" [UniProt]
synonym: "Bulbospinal neuronopathy X-linked recessive" [UniProt]
synonym: "KD" [UniProt]
synonym: "Kennedy disease" [UniProt]
synonym: "Kennedy spinal and bulbar muscular atrophy" [UniProt]
synonym: "SBMA" [UniProt]
synonym: "Spinal and bulbar muscular atrophy" [UniProt]
synonym: "XBSN" [UniProt]
xref: MedGen:C1839259
xref: MedGen:C2931395
xref: MeSH:D014897
xref: MIM:313200 "phenotype"
[Term]
id: DI-01054
name: Spinal muscular atrophy, proximal, adult, autosomal dominant
def: "A form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAPAD is characterized by proximal muscle weakness that begins in the lower limbs and then progresses to upper limbs, onset in late adulthood (after third decade) and a benign course. Most of the patients remain ambulatory 10 to 40 years after clinical onset." []
synonym: "Finkel late-adult type SMA" [UniProt]
xref: MedGen:C1854058
xref: MedGen:C1866777
xref: MeSH:D009134
xref: MIM:182980 "phenotype"
[Term]
id: DI-01055
name: Spinal muscular atrophy 1
def: "A form of spinal muscular atrophy, a group of neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Autosomal recessive forms are classified according to the age of onset, the maximum muscular activity achieved, and survivorship. The severity of the disease is mainly determined by the copy number of SMN2, a copy gene which predominantly produces exon 7-skipped transcripts and only low amount of full-length transcripts that encode for a protein identical to SMN1. Only about 4% of SMA patients bear one SMN1 copy with an intragenic mutation. SMA1 is a severe form, with onset before 6 months of age. SMA1 patients never achieve the ability to sit." []
synonym: "Infantile muscular atrophy" [UniProt]
synonym: "Proximal hereditary motor neuropathy type I" [UniProt]
synonym: "SMA I" [UniProt]
synonym: "SMA infantile acute form" [UniProt]
synonym: "Spinal muscular atrophy type I" [UniProt]
synonym: "Werdnig-Hoffman disease" [UniProt]
xref: MedGen:C0043116
xref: MeSH:D014897
xref: MIM:253300 "phenotype"
[Term]
id: DI-01056
name: Spinal muscular atrophy 2
def: "An autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. It has intermediate severity, with onset between 6 and 18 months. Patients do not reach the motor milestone of standing, and survive into adulthood." []
synonym: "SMA II" [UniProt]
synonym: "Spinal muscular atrophy infantile chronic form" [UniProt]
synonym: "Spinal muscular atrophy intermediate type" [UniProt]
synonym: "Spinal muscular atrophy type II" [UniProt]
xref: MedGen:C0393538
xref: MedGen:C2931358
xref: MeSH:D014897
xref: MIM:253550 "phenotype"
[Term]
id: DI-01057
name: Spinal muscular atrophy 3
def: "An autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Onset is after 18 months. Patients develop ability to stand and walk and survive into adulthood." []
synonym: "Kugelberg-Welander syndrome" [UniProt]
synonym: "KWS" [UniProt]
synonym: "SMA III" [UniProt]
synonym: "Spinal muscular atrophy mild childhood and adolescent form" [UniProt]
synonym: "Spinal muscular atrophy type III" [UniProt]
synonym: "Wohlfart-Kugelberg-Welander disease" [UniProt]
xref: MedGen:C0152109
xref: MeSH:D014897
xref: MIM:253400 "phenotype"
[Term]
id: DI-01058
name: Spinal muscular atrophy 4
def: "An autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Onset is in adulthood, disease progression is slow, and patients can stand and walk." []
synonym: "SMA IV" [UniProt]
synonym: "Spinal muscular atrophy adult form" [UniProt]
synonym: "Spinal muscular atrophy proximal adult autosomal recessive" [UniProt]
synonym: "Spinal muscular atrophy type IV" [UniProt]
xref: MedGen:C1838230
xref: MeSH:D009134
xref: MIM:271150 "phenotype"
[Term]
id: DI-01059
name: Spinal muscular atrophy X-linked 2
def: "A lethal infantile form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Clinical features include hypotonia, areflexia, and multiple congenital contractures." []
synonym: "AMC distal X-linked" [UniProt]
synonym: "AMCX1" [UniProt]
synonym: "Arthrogryposis multiplex congenita distal X-linked" [UniProt]
synonym: "Arthrogryposis X-linked type I" [UniProt]
synonym: "Spinal muscular atrophy infantile X-linked" [UniProt]
synonym: "Spinal muscular atrophy X-linked lethal infantile" [UniProt]
synonym: "XLSMA" [UniProt]
xref: MedGen:C1844934
xref: MeSH:D001176
xref: MeSH:D014897
xref: MIM:301830 "phenotype"
[Term]
id: DI-01060
name: Spinocerebellar ataxia 31
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA31 belongs to the autosomal dominant cerebellar ataxias type III (ADCA III) which are characterized by pure cerebellar ataxia without additional signs." []
synonym: "Pure spinocerebellar ataxia Japanese type" [UniProt]
synonym: "SCA4 pure Japanese type" [UniProt]
synonym: "Spinocerebellar ataxia 16q22-linked" [UniProt]
xref: MedGen:C1861736
xref: MeSH:D020754
xref: MIM:117210 "phenotype"
[Term]
id: DI-01061
name: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN2 is an autosomal recessive form associated with peripheral neuropathy and elevated serum alpha-fetoprotein, immunoglobulins and, less commonly, creatine kinase levels. Some SCAN2 patients manifest oculomotor apraxia." []
synonym: "AOA2" [UniProt]
synonym: "Ataxia-ocular apraxia 2" [UniProt]
synonym: "Ataxia-oculomotor apraxia 2" [UniProt]
synonym: "SCAR1" [UniProt]
synonym: "Spinocerebellar ataxia, autosomal recessive, 1" [UniProt]
xref: MedGen:C1853761
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:606002 "phenotype"
[Term]
id: DI-01062
name: Spinocerebellar ataxia, autosomal recessive, 8
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR8 is an autosomal recessive form." []
synonym: "ARCA1" [UniProt]
synonym: "Ataxia recessive of Beauce" [UniProt]
synonym: "Autosomal recessive cerebellar ataxia type 1" [UniProt]
xref: MedGen:C1853116
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:610743 "phenotype"
[Term]
id: DI-01063
name: Coenzyme Q10 deficiency, primary, 4
def: "An autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Patient manifest gait ataxia and cerebellar atrophy with slow progression. Additional features include brisk tendon reflexes and Hoffmann sign, variable psychomotor retardation and variable seizures." []
synonym: "ARCA2" [UniProt]
synonym: "Autosomal recessive cerebellar ataxia type 2" [UniProt]
synonym: "SCAR9" [UniProt]
synonym: "Spinocerebellar ataxia autosomal recessive 9" [UniProt]
xref: MedGen:C2677589
xref: MeSH:D028361
xref: MIM:612016 "phenotype"
[Term]
id: DI-01064
name: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN1 is an autosomal recessive cerebellar ataxia (ARCA) associated with peripheral axonal motor and sensory neuropathy, distal muscular atrophy, pes cavus and steppage gait as seen in Charcot-Marie-Tooth neuropathy. All affected individuals have normal intelligence." []
xref: MedGen:C1846574
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:607250 "phenotype"
[Term]
id: DI-01065
name: Mitochondrial DNA depletion syndrome 7
def: "A severe disease associated with mitochondrial dysfunction. Some patients are affected by progressive atrophy of the cerebellum, brain stem, the spinal cord, and sensory axonal neuropathy. Clinical features include hypotonia, athetosis, ataxia, ophthalmoplegia, sensorineural hearing deficit, sensory axonal neuropathy, epileptic encephalopathy and female hypogonadism. In some individuals liver dysfunction and multi-organ failure is present." []
synonym: "IOSCA" [UniProt]
synonym: "Mitochondrial DNA depletion syndrome 7 hepatocerebral type" [UniProt]
synonym: "Ohaha syndrome" [UniProt]
synonym: "Ophthalmoplegia hypotonia ataxia hypoacusis and athetosis" [UniProt]
synonym: "Pure spinocerebellar ataxia Japanese type" [UniProt]
synonym: "SCA4 pure Japanese type" [UniProt]
synonym: "SCA8" [UniProt]
synonym: "Spinocerebellar ataxia 8" [UniProt]
synonym: "Spinocerebellar ataxia infantile with sensory neuropathy" [UniProt]
synonym: "Spinocerebellar ataxia infantile-onset" [UniProt]
xref: MedGen:C1849096
xref: MeSH:D020754
xref: MIM:271245 "phenotype"
[Term]
id: DI-01066
name: Spinocerebellar ataxia 1
def: "Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA1 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA1 is caused by expansion of a CAG repeat in the coding region of ATXN1. Longer expansions result in earlier onset and more severe clinical manifestations of the disease." []
synonym: "Cerebelloparenchymal disorder I" [UniProt]
synonym: "CPD1" [UniProt]
synonym: "Menzel type OPCA" [UniProt]
synonym: "Olivopontocerebellar atrophy I" [UniProt]
synonym: "Olivopontocerebellar atrophy IV" [UniProt]
synonym: "OPCA I" [UniProt]
synonym: "OPCA IV" [UniProt]
synonym: "OPCA1" [UniProt]
synonym: "OPCA4" [UniProt]
synonym: "Schut-Haymaker type OPCA" [UniProt]
xref: MedGen:C0752120
xref: MeSH:D020754
xref: MIM:164400 "phenotype"
[Term]
id: DI-01067
name: Spinocerebellar ataxia 2
def: "Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is characterized by hyporeflexia, myoclonus and action tremor and dopamine-responsive parkinsonism. In some patients, SCA2 presents as pure familial parkinsonism without cerebellar signs." []
synonym: "Cerebellar degeneration with slow eye movements" [UniProt]
synonym: "Olivopontocerebellar atrophy Holguin type" [UniProt]
synonym: "Olivopontocerebellar atrophy II" [UniProt]
synonym: "OPCA II" [UniProt]
synonym: "OPCA2" [UniProt]
synonym: "SDSEM" [UniProt]
synonym: "Spinocerebellar ataxia Cuban type" [UniProt]
synonym: "Spinocerebellar atrophy II" [UniProt]
synonym: "Spinocerebellar degeneration with slow eye movements" [UniProt]
synonym: "Wadia-Swami syndrome" [UniProt]
xref: MedGen:C0752121
xref: MedGen:C2931904
xref: MeSH:D020754
xref: MIM:183090 "phenotype"
[Term]
id: DI-01068
name: Spinocerebellar ataxia 3
def: "Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA3 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. The molecular defect in SCA3 is the a CAG repeat expansion in ATX3 coding region. Longer expansions result in earlier onset and more severe clinical manifestations of the disease." []
synonym: "Azorean neurologic disease" [UniProt]
synonym: "Machado-Joseph disease" [UniProt]
synonym: "MJD" [UniProt]
synonym: "Nigrospinodentatal degeneration" [UniProt]
synonym: "Spinocerebellar atrophy" [UniProt]
xref: MedGen:C0024408
xref: MeSH:D020754
xref: MIM:109150 "phenotype"
[Term]
id: DI-01069
name: Spinocerebellar ataxia 5
def: "Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA5 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder with variable age at onset, ranging between 10 and 50 years." []
xref: MedGen:C0752123
xref: MeSH:D020754
xref: MIM:600224 "phenotype"
[Term]
id: DI-01070
name: Spinocerebellar ataxia 6
def: "Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA6 is an autosomal dominant cerebellar ataxia (ADCA), mainly caused by expansion of a CAG repeat in the coding region of CACNA1A. There seems to be a correlation between the repeat number and earlier onset of the disorder." []
xref: MedGen:C0752124
xref: MeSH:D020754
xref: MIM:183086 "phenotype"
[Term]
id: DI-01071
name: Spinocerebellar ataxia 7
def: "Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA7 belongs to the autosomal dominant cerebellar ataxias type II (ADCA II) which are characterized by cerebellar ataxia with retinal degeneration and pigmentary macular dystrophy." []
synonym: "Olivopontocerebellar atrophy III" [UniProt]
synonym: "Olivopontocerebellar atrophy with retinal degeneration" [UniProt]
synonym: "OPCA III" [UniProt]
synonym: "OPCA3" [UniProt]
xref: MedGen:C0752125
xref: MeSH:D020754
xref: MIM:164500 "phenotype"
[Term]
id: DI-01072
name: Spinocerebellar ataxia 8
def: "Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA8 is an autosomal dominant cerebellar ataxia (ADCA). It is caused by expansion of a CAG repeat in ATXN8, which is translated into a nearly pure polyglutamine protein which forms 1C2-positive inclusions in Purkinje cells and other neurons." []
xref: MedGen:C1837454
xref: MeSH:D020754
xref: MIM:608768 "phenotype"
[Term]
id: DI-01073
name: Spinocerebellar ataxia 10
def: "Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA10 is an autosomal dominant cerebellar ataxia (ADCA)." []
xref: MedGen:C1963674
xref: MeSH:D020754
xref: MIM:603516 "phenotype"
[Term]
id: DI-01074
name: Spinocerebellar ataxia 11
def: "Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA11 is an autosomal dominant cerebellar ataxia (ADCA). It is a relatively benign, late- onset, slowly progressive neurologic disorder." []
xref: MedGen:C1858351
xref: MeSH:D020754
xref: MIM:604432 "phenotype"
[Term]
id: DI-01075
name: Spinocerebellar ataxia 12
def: "Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA12 is an autosomal dominant cerebellar ataxia (ADCA)." []
xref: MedGen:C1858501
xref: MeSH:D020754
xref: MIM:604326 "phenotype"
[Term]
id: DI-01076
name: Spinocerebellar ataxia 13
def: "Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA13 is an autosomal dominant cerebellar ataxia (ADCA) characterized by slow progression and variable age at onset, ranging from childhood to late adulthood. Intellectual disability can be present in some patients." []
xref: MedGen:C1854488
xref: MeSH:D020754
xref: MIM:605259 "phenotype"
[Term]
id: DI-01077
name: Spinocerebellar ataxia 14
def: "Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA14 is an autosomal dominant cerebellar ataxia (ADCA)." []
xref: MedGen:C1854369
xref: MeSH:D020754
xref: MIM:605361 "phenotype"
[Term]
id: DI-01078
name: Spinocerebellar ataxia 15
def: "Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA15 is an autosomal dominant cerebellar ataxia (ADCA). It is very slow progressing form with a wide range of onset, ranging from childhood to adult. Most patients remain ambulatory." []
synonym: "SCA16" [UniProt]
synonym: "Spinocerebellar ataxia type 16" [UniProt]
xref: MedGen:C1847725
xref: MedGen:C2676005
xref: MeSH:D020754
xref: MIM:606658 "phenotype"
[Term]
id: DI-01079
name: Spinocerebellar ataxia 17
def: "Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA17 is an autosomal dominant cerebellar ataxia (ADCA) characterized by widespread cerebral and cerebellar atrophy, dementia and extrapyramidal signs. The molecular defect in SCA17 is the expansion of a CAG repeat in the coding region of TBP. Longer expansions result in earlier onset and more severe clinical manifestations of the disease." []
synonym: "HDL4" [UniProt]
synonym: "Huntington disease-like 4" [UniProt]
xref: MedGen:C1846707
xref: MeSH:D020754
xref: MIM:607136 "phenotype"
[Term]
id: DI-01080
name: Spinocerebellar ataxia 27A
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA27A is an autosomal dominant, slowly progressive form characterized by gait disturbances, ataxia with tremor, dysarthria, orofacial dyskinesia, gaze-evoked nystagmus, and learning disabilities. There is significant variability, and patients show various combinations of neurologic features." []
synonym: "Cerebellar ataxia, autosomal dominant, FGF14-related" [UniProt]
synonym: "NYS4" [UniProt]
synonym: "Nystagmus 4, congenital, autosomal dominant" [UniProt]
synonym: "SCA27" [UniProt]
synonym: "Spinocerebellar ataxia 27" [UniProt]
synonym: "Vestibulocerebellar disorder with predominant ocular signs" [UniProt]
xref: MedGen:C1836383
xref: MedGen:C1860433
xref: MeSH:D020754
xref: MIM:193003 "phenotype"
[Term]
id: DI-01081
name: Spondylocostal dysostosis 1, autosomal recessive
def: "A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life." []
synonym: "Costovertebral dysplasia" [UniProt]
synonym: "Jarcho-Levin syndrome" [UniProt]
synonym: "Spondylothoracic dysostosis" [UniProt]
synonym: "Spondylothoracic dysplasia" [UniProt]
xref: MedGen:C0265343
xref: MeSH:D004413
xref: MIM:277300 "phenotype"
[Term]
id: DI-01082
name: Spondylocostal dysostosis 2, autosomal recessive
def: "A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life." []
xref: MedGen:C1837549
xref: MeSH:D004413
xref: MIM:608681 "phenotype"
[Term]
id: DI-01083
name: Spondylocostal dysostosis 3, autosomal recessive
def: "A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life." []
xref: MedGen:C1853296
xref: MeSH:D004413
xref: MIM:609813 "phenotype"
[Term]
id: DI-01084
name: Stargardt disease 1
def: "A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina." []
synonym: "Juvenile macular degeneration" [UniProt]
synonym: "Macular dystrophy with flecks type 1" [UniProt]
synonym: "Stargardt's disease" [UniProt]
xref: MedGen:C1855465
xref: MedGen:C1858080
xref: MeSH:D003317
xref: MIM:248200 "phenotype"
[Term]
id: DI-01085
name: Stargardt disease 3
def: "A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina." []
synonym: "Macular dystrophy autosomal dominant chromosome 6-linked" [UniProt]
synonym: "Macular dystrophy with flecks type 3" [UniProt]
synonym: "Stargardt-like macular dystrophy" [UniProt]
xref: MedGen:C1838644
xref: MeSH:D003317
xref: MIM:600110 "phenotype"
[Term]
id: DI-01086
name: Stargardt disease 4
def: "A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina." []
xref: MedGen:C1863534
xref: MeSH:D003317
xref: MIM:603786 "phenotype"
[Term]
id: DI-01087
name: Hyperekplexia 1
def: "A neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli." []
synonym: "Congenital stiff-man syndrome" [UniProt]
synonym: "Congenital stiff-person syndrome" [UniProt]
synonym: "Exaggerated startle reaction" [UniProt]
synonym: "Familial startle disease" [UniProt]
synonym: "Hereditary hyperexplexia 1" [UniProt]
synonym: "Hyperekplexia hereditary 1 autosomal dominant or recessive" [UniProt]
synonym: "Kok disease" [UniProt]
synonym: "STHE" [UniProt]
synonym: "Stiff-baby syndrome" [UniProt]
xref: MedGen:C1835614
xref: MeSH:D000071017
xref: MIM:149400 "phenotype"
[Term]
id: DI-01088
name: Developmental and epileptic encephalopathy 8
def: "A disorder characterized by hyperekplexia and early infantile epileptic encephalopathy. Neurologic features include exaggerated startle response, seizures, impaired psychomotor development, and intellectual disability. Seizures can be provoked by tactile stimulation or extreme emotion." []
synonym: "EIEE8" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 8" [UniProt]
synonym: "Hyperekplexia with epilepsy" [UniProt]
synonym: "Startle disease with epilepsy" [UniProt]
xref: MedGen:C1845102
xref: MeSH:D013036
xref: MeSH:D013216
xref: MIM:300607 "phenotype"
[Term]
id: DI-01089
name: Stickler syndrome 4
def: "An autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable." []
xref: MedGen:C1852831
xref: MedGen:C3279941
xref: MeSH:D003240
xref: MeSH:D005128
xref: MeSH:D034381
xref: MIM:614134 "phenotype"
[Term]
id: DI-01090
name: Stickler syndrome 1
def: "An autosomal dominant form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable." []
synonym: "AOM" [UniProt]
synonym: "Arthro-ophthalmopathy hereditary progressive" [UniProt]
synonym: "Stickler syndrome membranous vitreous type" [UniProt]
synonym: "Stickler syndrome type I" [UniProt]
synonym: "Stickler syndrome vitreous type 1" [UniProt]
xref: MedGen:C0265253
xref: MedGen:CN032634
xref: MeSH:D003240
xref: MeSH:D005128
xref: MeSH:D034381
xref: MIM:108300 "phenotype"
[Term]
id: DI-01091
name: Stickler syndrome 1 non-syndromic ocular
def: "An autosomal dominant form of Stickler syndrome characterized by the ocular signs typically seen in Stickler syndrome type 1 such as cataract, myopia, retinal detachment. Systemic features of premature osteoarthritis, cleft palate, hearing impairment, and craniofacial abnormalities are either absent or very mild." []
synonym: "Stickler syndrome atypical" [UniProt]
synonym: "Stickler syndrome predominantly ocular" [UniProt]
synonym: "Wagner syndrome 2" [UniProt]
xref: MedGen:C1836080
xref: MeSH:D003240
xref: MeSH:D012163
xref: MIM:609508 "phenotype"
[Term]
id: DI-01092
name: Stickler syndrome 2
def: "An autosomal dominant form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable." []
synonym: "Stickler syndrome beaded vitreous type" [UniProt]
synonym: "Stickler syndrome type II" [UniProt]
synonym: "Stickler syndrome vitreous type 2" [UniProt]
xref: MedGen:C1858084
xref: MeSH:D003240
xref: MeSH:D005128
xref: MeSH:D034381
xref: MIM:604841 "phenotype"
[Term]
id: DI-01093
name: Otospondylomegaepiphyseal dysplasia, autosomal dominant
def: "An autosomal dominant form of otospondylomegaepiphyseal dysplasia, a disorder characterized by sensorineural deafness, enlarged epiphyses, mild platyspondyly, and disproportionate shortness of the limbs. Total body length is normal. Typical facial features are mid-face hypoplasia, short upturned nose and depressed nasal bridge. Most patients have Pierre Robin sequence including an opening in the roof of the mouth (cleft palate) and a small lower jaw (micrognathia). Ocular symptoms are absent. Some patients have early-onset osteoarthritis." []
synonym: "Heterozygous OSMED" [UniProt]
synonym: "Pierre Robin syndrome with fetal chondrodysplasia" [UniProt]
synonym: "Stickler syndrome 3" [UniProt]
synonym: "Stickler syndrome non-ocular type" [UniProt]
synonym: "Stickler syndrome type III" [UniProt]
synonym: "Stickler-like syndrome" [UniProt]
synonym: "STL3" [UniProt]
synonym: "Weissenbacher-Zweymueller syndrome" [UniProt]
synonym: "WZS" [UniProt]
xref: MedGen:C1848488
xref: MedGen:C1861481
xref: MeSH:D003240
xref: MIM:184840 "phenotype"
[Term]
id: DI-01094
name: Subcortical band heterotopia
def: "SBH is a mild brain malformation of the lissencephaly spectrum. It is characterized by bilateral and symmetric plates or bands of gray matter found in the central white matter between the cortex and cerebral ventricles, cerebral convolutions usually appearing normal." []
synonym: "Double cortex" [UniProt]
synonym: "SCLH" [UniProt]
synonym: "Subcortical laminar heterotopia" [UniProt]
xref: MedGen:C1848201
xref: MeSH:D054221
xref: MIM:607432 "phenotype"
[Term]
id: DI-01095
name: Subcortical band heterotopia X-linked
def: "SBHX is a mild brain malformation of the lissencephaly spectrum. It is characterized by bilateral and symmetric plates or bands of gray matter found in the central white matter between the cortex and cerebral ventricles, cerebral convolutions usually appearing normal." []
synonym: "Double cortex" [UniProt]
synonym: "SCLH" [UniProt]
synonym: "Subcortical laminar heterotopia" [UniProt]
xref: MedGen:C1848070
xref: MedGen:C1848200
xref: MeSH:D054221
xref: MIM:300067 "phenotype"
[Term]
id: DI-01096
name: Sudden infant death syndrome
def: "SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive." []
xref: MedGen:C0038644
xref: MeSH:D013398
xref: MIM:272120 "phenotype"
[Term]
id: DI-01097
name: Ehlers-Danlos syndrome, classic-like, 1
def: "A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSCLL1 patients lack atrophic scars, a major diagnostic criteria for classic Ehlers-Danlos syndrome. Delayed wound healing is only present in a subset of patients. EDSCLL1 inheritance is autosomal recessive." []
synonym: "EDS due to TNX deficiency" [UniProt]
synonym: "Ehlers-Danlos syndrome due to tenascin X deficiency" [UniProt]
synonym: "Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency" [UniProt]
synonym: "Tenascin-X deficiency" [UniProt]
synonym: "TNX deficiency" [UniProt]
xref: MedGen:C1848029
xref: MeSH:D004535
xref: MIM:606408 "phenotype"
[Term]
id: DI-01098
name: Thrombocytopenia 1
def: "A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting." []
synonym: "Thrombocytopenia X-linked" [UniProt]
synonym: "Thrombocytopenia X-linked 1" [UniProt]
synonym: "XLT" [UniProt]
xref: MedGen:C1839163
xref: MedGen:C1839164
xref: MeSH:D013921
xref: MIM:313900 "phenotype"
[Term]
id: DI-01099
name: Thrombocytopenia 2
def: "A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting." []
synonym: "Thrombocytopenia autosomal dominant 2" [UniProt]
synonym: "Thrombocytopenia, autosomal dominant, 2" [UniProt]
xref: MedGen:C1861185
xref: MeSH:D013921
xref: MIM:188000 "phenotype"
[Term]
id: DI-01100
name: Thrombocytopenia 4
def: "A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting." []
synonym: "Thrombocytopenia autosomal dominant 4" [UniProt]
xref: MedGen:C2677608
xref: MeSH:D013921
xref: MIM:612004 "phenotype"
[Term]
id: DI-01101
name: Thrombophilia due to activated protein C resistance
def: "A hemostatic disorder due to defective degradation of factor V by activated protein C. It is characterized by a poor anticoagulant response to activated protein C resulting in tendency to thrombosis." []
synonym: "Activated protein C resistance" [UniProt]
synonym: "APC resistance" [UniProt]
synonym: "PCCF deficiency" [UniProt]
synonym: "PROC cofactor deficiency" [UniProt]
synonym: "Thrombophilia due to deficiency of activated protein C cofactor" [UniProt]
synonym: "Thrombophilia due to factor V Leiden" [UniProt]
synonym: "Thrombophilia V" [UniProt]
xref: MedGen:C1861171
xref: MedGen:C2674152
xref: MeSH:D020016
xref: MIM:188055 "phenotype"
[Term]
id: DI-01102
name: Thrombophilia due to thrombomodulin defect
def: "A hemostatic disorder characterized by a tendency to thrombosis." []
xref: MedGen:C1861173.1
xref: MedGen:C3280976
xref: MeSH:D019851
xref: MIM:614486 "phenotype"
[Term]
id: DI-01103
name: Transient bullous dermolysis of the newborn
def: "TBDN is a neonatal form of dystrophic epidermolysis bullosa characterized by sub-epidermal blisters, reduced or abnormal anchoring fibrils at the dermo-epidermal junction, and electron-dense inclusions in keratinocytes. TBDN heals spontaneously or strongly improves within the first months and years of life." []
synonym: "Epidermolysis bullosa dystrophica dominant neonatal type" [UniProt]
xref: MedGen:C1851573
xref: MeSH:D016108
xref: MIM:131705 "phenotype"
[Term]
id: DI-01104
name: Trichothiodystrophy 1, photosensitive
def: "A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD1 patients manifest cutaneous photosensitivity." []
synonym: "IBIDS syndrome" [UniProt]
synonym: "Ichthyosiform erythroderma with hair abnormality and mental and growth retardation" [UniProt]
synonym: "Ichthyosis with brittle hair, intellectual impairment, decreased fertility and short stature" [UniProt]
synonym: "Ichthyosis, congenital, with trichothiodystrophy" [UniProt]
synonym: "PIBIDS syndrome" [UniProt]
synonym: "Tay syndrome" [UniProt]
synonym: "Trichothiodystrophy photosensitive" [UniProt]
synonym: "Trichothiodystrophy with congenital ichthyosis" [UniProt]
synonym: "TTDP" [UniProt]
xref: MedGen:C0432267
xref: MedGen:C1866504
xref: MedGen:C1866505
xref: MeSH:D054463
xref: MIM:601675 "phenotype"
[Term]
id: DI-01105
name: Trichothiodystrophy 4, non-photosensitive
def: "A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD4 patients do not manifest cutaneous photosensitivity." []
synonym: "ABHS" [UniProt]
synonym: "Amish brittle hair brain syndrome" [UniProt]
synonym: "BIDS syndrome" [UniProt]
synonym: "Hair-brain syndrome" [UniProt]
synonym: "Pollitt syndrome" [UniProt]
synonym: "Trichorrhexis nodosa syndrome" [UniProt]
synonym: "Trichothiodystrophy non-photosensitive 1" [UniProt]
synonym: "Trichothiodystrophy, nonphotosensitive 1" [UniProt]
synonym: "Trichothiodystrophy-neurocutaneous syndrome" [UniProt]
synonym: "TTDN1" [UniProt]
xref: MedGen:C0740342
xref: MedGen:C1961117
xref: MedGen:C3495483
xref: MeSH:D054463
xref: MIM:234050 "phenotype"
[Term]
id: DI-01106
name: Tuberous sclerosis 1
def: "An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes." []
synonym: "Bourneville syndrome" [UniProt]
synonym: "TS" [UniProt]
synonym: "Tuberous sclerosis" [UniProt]
synonym: "Tuberous sclerosis complex" [UniProt]
xref: MedGen:C0041341
xref: MedGen:C1854465
xref: MeSH:D014402
xref: MIM:191100 "phenotype"
[Term]
id: DI-01107
name: Tyrosinemia 1
def: "An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and hepatorenal manifestations. Typical features include hepatic necrosis, renal tubular injury, episodic weakness, self-mutilation, and seizures. Renal tubular dysfunction is associated with phosphate loss and hypophosphataemic rickets. Progressive liver disease can lead to the development of hepatocellular carcinoma. Dietary treatment with restriction of tyrosine and phenylalanine alleviates the rickets, but liver transplantation has so far been the only definite treatment." []
synonym: "FAH deficiency" [UniProt]
synonym: "Fumarylacetoacetase deficiency" [UniProt]
synonym: "Hepatorenal tyrosinemia" [UniProt]
synonym: "Tyrosinemia type I" [UniProt]
xref: MedGen:C0268490
xref: MeSH:D020176
xref: MIM:276700 "phenotype"
[Term]
id: DI-01108
name: Tyrosinemia 2
def: "An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and oculocutaneous manifestations. Typical features include palmoplantar keratosis, painful corneal ulcers, and intellectual disability." []
synonym: "Keratosis palmoplantaris with corneal dystrophy" [UniProt]
synonym: "Oculocutaneous tyrosinemia" [UniProt]
synonym: "Richner-Hanhart syndrome" [UniProt]
synonym: "TAT deficiency" [UniProt]
synonym: "Tyrosine aminotransferase deficiency" [UniProt]
synonym: "Tyrosine transaminase deficiency" [UniProt]
synonym: "Tyrosinemia Oregon type" [UniProt]
synonym: "Tyrosinemia type II" [UniProt]
synonym: "Tyrosinosis oculocutaneous type" [UniProt]
xref: MedGen:C0268487
xref: MeSH:D020176
xref: MIM:276600 "phenotype"
[Term]
id: DI-01109
name: Tyrosinemia 3
def: "An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, seizures and mild intellectual disability." []
synonym: "4-hydroxyphenylpyruvate dioxygenase deficiency" [UniProt]
synonym: "4-hydroxyphenylpyruvic acid oxidase deficiency" [UniProt]
synonym: "Tyrosinemia type III" [UniProt]
xref: MedGen:C0268623
xref: MeSH:D020176
xref: MIM:276710 "phenotype"
[Term]
id: DI-01110
name: Ullrich congenital muscular dystrophy 1A
def: "A form of Ullrich congenital muscular dystrophy, a disease characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis (rough skin). More severely affected patients manifest at birth and never achieve independent ambulation, while patients with milder phenotypes might maintain ambulation into adulthood. Inheritance can be autosomal dominant or autosomal recessive." []
synonym: "Scleroatonic muscular dystrophy" [UniProt]
synonym: "UCMD" [UniProt]
synonym: "Ullrich congenital muscular dystrophy" [UniProt]
synonym: "Ullrich disease" [UniProt]
synonym: "Ullrich scleroatonic muscular dystrophy" [UniProt]
xref: MedGen:C0410179
xref: MeSH:D009136
xref: MIM:254090 "phenotype"
[Term]
id: DI-01112
name: Usher syndrome 1B
def: "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness." []
synonym: "Usher syndrome type IB" [UniProt]
synonym: "Usher syndrome type Ib" [UniProt]
synonym: "Usher's syndrome type 1B" [UniProt]
synonym: "USHIb" [UniProt]
xref: MedGen:C1568247
xref: MedGen:C1848638
xref: MedGen:C1848639
xref: MedGen:C1848640
xref: MeSH:D052245
xref: MIM:276900 "phenotype"
[Term]
id: DI-01113
name: Usher syndrome 1C
def: "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness." []
synonym: "Acadian Usher syndrome" [UniProt]
synonym: "Usher syndrome type I Acadian variety" [UniProt]
synonym: "Usher syndrome type IC" [UniProt]
synonym: "Usher's syndrome type 1C" [UniProt]
xref: MedGen:C1848604
xref: MeSH:D052245
xref: MIM:276904 "phenotype"
[Term]
id: DI-01114
name: Usher syndrome 1D
def: "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness." []
synonym: "Usher syndrome type ID" [UniProt]
synonym: "Usher's syndrome type 1D" [UniProt]
xref: MedGen:C1832845
xref: MeSH:D052245
xref: MIM:601067 "phenotype"
[Term]
id: DI-01115
name: Usher syndrome 1D/F
def: "A digenic recessive form of Usher syndrome, a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness." []
synonym: "USH1D/F" [UniProt]
synonym: "Usher syndrome 1H" [UniProt]
synonym: "Usher syndrome type IH" [UniProt]
synonym: "Usher's syndrome type 1H" [UniProt]
xref: MedGen:C3152102
xref: MedGen:C3275872
xref: MeSH:D052245
xref: MIM:601067 "phenotype"
[Term]
id: DI-01116
name: Usher syndrome 1F
def: "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness." []
synonym: "Usher syndrome type IF" [UniProt]
synonym: "Usher's syndrome type 1F" [UniProt]
xref: MedGen:C1865885
xref: MeSH:D052245
xref: MIM:602083 "phenotype"
[Term]
id: DI-01117
name: Usher syndrome 1G
def: "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness." []
synonym: "Usher syndrome type IG" [UniProt]
synonym: "Usher's syndrome type 1G" [UniProt]
xref: MedGen:C1847089
xref: MeSH:D052245
xref: MIM:606943 "phenotype"
[Term]
id: DI-01118
name: Usher syndrome 2A
def: "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses." []
synonym: "Usher syndrome type IIA" [UniProt]
synonym: "Usher syndrome type IIa" [UniProt]
synonym: "Usher's syndrome type 2A" [UniProt]
synonym: "USHIIa" [UniProt]
xref: MedGen:C1848634
xref: MeSH:D052245
xref: MIM:276901 "phenotype"
[Term]
id: DI-01119
name: Usher syndrome 2C
def: "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses." []
synonym: "Usher syndrome type IIC" [UniProt]
synonym: "Usher syndrome type IIC GPR98/PDZD7 digenic" [UniProt]
synonym: "Usher's syndrome type 2C" [UniProt]
xref: MedGen:C1854237
xref: MedGen:C2676439
xref: MedGen:C2931213
xref: MedGen:C3148929
xref: MeSH:D052245
xref: MIM:605472 "phenotype"
[Term]
id: DI-01120
name: Usher syndrome 3A
def: "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH3 is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life." []
synonym: "USH3" [UniProt]
synonym: "Usher syndrome III" [UniProt]
synonym: "Usher syndrome type 3" [UniProt]
synonym: "Usher syndrome type III" [UniProt]
synonym: "Usher's syndrome type 3" [UniProt]
xref: MedGen:C1568248
xref: MeSH:D052245
xref: MIM:276902 "phenotype"
[Term]
id: DI-01121
name: Van Buchem disease
def: "VBCH is an autosomal recessive sclerosing bone dysplasia characterized by endosteal hyperostosis of the mandible, skull, ribs, clavicles, and diaphyses of the long bones. Affected patients present a symmetrically increased thickness of bones, most frequently found as an enlarged jawbone, but also an enlargement of the skull, ribs, diaphysis of long bones, as well as tubular bones of hands and feet. The clinical consequence of increased thickness of the skull include facial nerve palsy causing hearing loss, visual problems, neurological pain, and, very rarely, blindness as a consequence of optic atrophy. Serum alkaline phosphatase levels are elevated." []
synonym: "Endosteal hyperostosis autosomal recessive" [UniProt]
synonym: "Hyperostosis corticalis generalisata" [UniProt]
synonym: "Hyperphosphatasemia tarda" [UniProt]
xref: MedGen:C0432272
xref: MeSH:D010009
xref: MIM:239100 "phenotype"
[Term]
id: DI-01122
name: Van Buchem disease 2
def: "VBCH2 is an autosomal dominant sclerosing bone dysplasia characterized by cranial osteosclerosis, thickened calvaria and cortices of long bones, enlarged mandible and normal serum alkaline phosphatase levels." []
xref: MedGen:C1843323
xref: MeSH:D010009
xref: MIM:607636 "phenotype"
[Term]
id: DI-01123
name: Van der Woude syndrome 1
def: "An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate." []
synonym: "Cleft lip and/or palate with mucous cysts of lower lip" [UniProt]
synonym: "Lip-pit syndrome" [UniProt]
synonym: "LPS" [UniProt]
synonym: "PIT" [UniProt]
synonym: "VDWS" [UniProt]
xref: MedGen:C0175697
xref: MeSH:D002971
xref: MeSH:D002972
xref: MIM:119300 "phenotype"
[Term]
id: DI-01124
name: Macular dystrophy, vitelliform, 2
def: "An autosomal dominant form of macular degeneration that usually begins in childhood or adolescence. VMD2 is characterized by typical 'egg- yolk' macular lesions due to abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. Progression of the disease leads to destruction of the retinal pigment epithelium and vision loss." []
synonym: "Best disease" [UniProt]
synonym: "Best macular dystrophy" [UniProt]
synonym: "Best vitelliform macular dystrophy" [UniProt]
synonym: "Best vitelliform macular dystrophy, multifocal" [UniProt]
synonym: "Best's macular dystrophy" [UniProt]
synonym: "BMD" [UniProt]
synonym: "Early-onset vitelliform macular dystrophy" [UniProt]
synonym: "Juvenile-onset vitelliform macular dystrophy" [UniProt]
synonym: "Macular degeneration, polymorphic vitelline" [UniProt]
synonym: "VMD" [UniProt]
xref: MedGen:C0339510
xref: MedGen:C2675055
xref: MedGen:C2745945
xref: MeSH:D057826
xref: MIM:153700 "phenotype"
[Term]
id: DI-01125
name: Vitreoretinochoroidopathy
def: "An autosomal dominant ocular disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable. VRCP may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma." []
synonym: "ADVIRC" [UniProt]
synonym: "Vitreoretinochoroidopathy autosomal dominant with nanophthalmos, microcornea, rod-cone dystrophy, cataract and posterior staphyloma" [UniProt]
synonym: "Vitreoretinochoroidopathy with microcornea-glaucoma-cataract" [UniProt]
synonym: "Vitreoretinochoroidopathy, autosomal dominant" [UniProt]
xref: MedGen:C1860406
xref: MedGen:C2674009
xref: MeSH:D012162
xref: MeSH:D015862
xref: MIM:193220 "phenotype"
[Term]
id: DI-01126
name: Vitreoretinopathy, exudative 1
def: "A disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. In many ways the disease resembles retinopathy of prematurity but there is no evidence of prematurity or small birth weight in the patient history." []
synonym: "Autosomal dominant familial exudative vitreoretinopathy" [UniProt]
synonym: "Criswick-Schepens syndrome" [UniProt]
synonym: "FEVR" [UniProt]
xref: MedGen:C0035344
xref: MedGen:C1851402
xref: MeSH:D012178
xref: MIM:133780 "phenotype"
[Term]
id: DI-01127
name: Vitreoretinopathy, exudative 2
def: "A disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery." []
synonym: "EVRX" [UniProt]
synonym: "Exudative vitreoretinopathy familial 2" [UniProt]
synonym: "FEVR X-linked" [UniProt]
synonym: "FEVRX" [UniProt]
synonym: "X-linked familial exudative vitreoretinopathy" [UniProt]
xref: MedGen:C1844579
xref: MeSH:D012164
xref: MIM:305390 "phenotype"
[Term]
id: DI-01128
name: Vitreoretinopathy, exudative 4
def: "A disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery." []
xref: MedGen:C1866176
xref: MeSH:D012164
xref: MIM:601813 "phenotype"
[Term]
id: DI-01129
name: Vohwinkel syndrome
def: "An autosomal dominant disease characterized by hyperkeratosis, constriction on fingers and toes and congenital deafness." []
synonym: "Congenital deafness with keratopachydermia and constrictions of fingers and toes" [UniProt]
synonym: "Keratoderma hereditarium mutilans" [UniProt]
synonym: "KHM" [UniProt]
synonym: "Mutilating keratoderma" [UniProt]
xref: MedGen:C0265964
xref: MeSH:D006319
xref: MeSH:D007645
xref: MeSH:D017880
xref: MIM:124500 "phenotype"
[Term]
id: DI-01130
name: Vohwinkel syndrome with ichthyosis
def: "A variant form of Vohwinkel syndrome without hearing loss and associated with ichthyosiform dermatosis. Clinical features include palmoplantar keratoderma, pseudoainhum and ichthyosis. Compact hyperkeratosis with round retained nuclei and hypergranulosis is observed on skin biopsies." []
synonym: "LK" [UniProt]
synonym: "Loricrin keratoderma" [UniProt]
synonym: "Mutilating keratoderma with ichthyosis" [UniProt]
synonym: "Vohwinkel syndrome variant form" [UniProt]
xref: MedGen:C1858805
xref: MeSH:D007057
xref: MeSH:D007645
xref: MeSH:D017880
xref: MIM:604117 "phenotype"
[Term]
id: DI-01131
name: von Hippel-Lindau disease
def: "VHLD is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors. VHL type 1 is without pheochromocytoma, type 2 is with pheochromocytoma. VHL type 2 is further subdivided into types 2A (pheochromocytoma, retinal angioma, and hemangioblastomas without renal cell carcinoma and pancreatic cyst) and 2B (pheochromocytoma, retinal angioma, and hemangioblastomas with renal cell carcinoma and pancreatic cyst)." []
synonym: "VHLS" [UniProt]
synonym: "Von Hippel-Lindau syndrome" [UniProt]
xref: MedGen:C0019562
xref: MedGen:C2674004
xref: MedGen:CN169367
xref: MeSH:D006623
xref: MIM:193300 "phenotype"
[Term]
id: DI-01132
name: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1
def: "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease." []
synonym: "Cerebroocular dysgenesis" [UniProt]
synonym: "Cerebroocular dysplasia-muscular dystrophy syndrome" [UniProt]
synonym: "COD" [UniProt]
synonym: "COD-MD syndrome" [UniProt]
synonym: "HARD +/- E syndrome" [UniProt]
synonym: "HARD syndrome" [UniProt]
synonym: "Hydrocephalus-agyria-retinal dysplasia" [UniProt]
synonym: "MEB" [UniProt]
synonym: "Muscle-eye-brain disease" [UniProt]
synonym: "Muscle-eye-brain disease POMT1-related" [UniProt]
synonym: "Muscular dystrophy due to defective glycosylation of dystroglycan 1A" [UniProt]
synonym: "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1" [UniProt]
synonym: "Walker-Warburg syndrome" [UniProt]
synonym: "Walker-Warburg syndrome POMT1-related" [UniProt]
synonym: "Warburg syndrome" [UniProt]
synonym: "WWS" [UniProt]
xref: MedGen:C0265221
xref: MeSH:D058494
xref: MIM:236670 "phenotype"
[Term]
id: DI-01133
name: Waardenburg syndrome 1
def: "WS1 is an autosomal dominant disorder characterized by non-progressive sensorineural deafness, pigmentary disturbances such as frontal white blaze of hair, heterochromia of irides, white eyelashes, leukoderma, and wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopia canthorum). WS1 shows variable clinical expression and some affected individuals do not manifest hearing impairment or iris pigmentation disturbances. Dystopia canthorum is the most consistent sign and is found in 98% of the patients." []
xref: MedGen:C1847800
xref: MeSH:D014849
xref: MIM:193500 "phenotype"
[Term]
id: DI-01135
name: Waardenburg syndrome 2A
def: "WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1." []
xref: MedGen:C1860339
xref: MeSH:D014849
xref: MIM:193510 "phenotype"
[Term]
id: DI-01136
name: Waardenburg syndrome 2D
def: "WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1." []
xref: MedGen:C1837203
xref: MeSH:D014849
xref: MIM:608890 "phenotype"
[Term]
id: DI-01137
name: Waardenburg syndrome 2E
def: "An autosomal dominant auditory-pigmentary disorder characterized by sensorineural deafness, pigmentary disturbances of the hair, skin and eyes, and absence of dystopia canthorum which is the lateral displacement of the inner canthus of each eye. Individuals with WS2E may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Some patients can manifest features of Kallmann syndrome." []
synonym: "Hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation" [UniProt]
synonym: "Kallmann syndrome and deafness with or without hypopigmentation" [UniProt]
synonym: "Waardenburg syndrome type 2E with or without neurologic involvement" [UniProt]
synonym: "Waardenburg syndrome type IIE" [UniProt]
synonym: "WS2E with or without neurologic involvement" [UniProt]
xref: MedGen:C2700405
xref: MedGen:CN069052
xref: MedGen:CN069053
xref: MeSH:D014849
xref: MIM:611584 "phenotype"
[Term]
id: DI-01138
name: Waardenburg syndrome 3
def: "WS3 is an autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, dystopia canthorum and limb anomalies such as hypoplasia of the musculoskeletal system, flexion contractures, fusion of the carpal bones, syndactylies." []
synonym: "Klein-Waardenburg syndrome" [UniProt]
synonym: "Waardenburg syndrome with upper limb anomalies" [UniProt]
synonym: "White forelock with malformations" [UniProt]
xref: MedGen:C0079661
xref: MedGen:C0342680
xref: MeSH:D014849
xref: MIM:148820 "phenotype"
[Term]
id: DI-01139
name: Waardenburg syndrome 4A
def: "A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease)." []
synonym: "Hirschsprung disease with pigmentary anomaly" [UniProt]
synonym: "Shah-Waardenburg syndrome" [UniProt]
synonym: "Waardenburg syndrome type IVA" [UniProt]
synonym: "Waardenburg syndrome with Hirschsprung disease type 4A" [UniProt]
synonym: "Waardenburg-Shah syndrome" [UniProt]
xref: MedGen:C1848519
xref: MeSH:D014849
xref: MIM:277580 "phenotype"
[Term]
id: DI-01140
name: Watson syndrome
def: "A syndrome characterized by the presence of pulmonary stenosis, cafe- au-lait spots, and intellectual disability. It is considered as an atypical form of neurofibromatosis." []
synonym: "Pulmonary stenosis with cafe-au-lait spots" [UniProt]
xref: MedGen:C0553586
xref: MeSH:D009456
xref: MIM:193520 "phenotype"
[Term]
id: DI-01141
name: Weaver syndrome
def: "A syndrome of accelerated growth and osseous maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and hypertonia with camptodactyly. Distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand." []
synonym: "Weaver syndrome 1" [UniProt]
synonym: "Weaver syndrome 2" [UniProt]
synonym: "Weaver-Smith syndrome" [UniProt]
synonym: "WSS" [UniProt]
synonym: "WVS1" [UniProt]
synonym: "WVS2" [UniProt]
xref: MedGen:C0220765
xref: MedGen:C0265210
xref: MeSH:D006130
xref: MIM:277590 "phenotype"
[Term]
id: DI-01142
name: Weill-Marchesani syndrome 2
def: "A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma." []
synonym: "Autosomal dominant Weill-Marchesani syndrome" [UniProt]
synonym: "Congenital mesodermal dysmorphodystrophy" [UniProt]
synonym: "GEMSS" [UniProt]
synonym: "Glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome" [UniProt]
synonym: "Spherophakia-brachymorphia syndrome" [UniProt]
xref: MedGen:C1869115
xref: MeSH:D056846
xref: MIM:608328 "phenotype"
[Term]
id: DI-01143
name: Weill-Marchesani syndrome 1
def: "A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma." []
synonym: "Autosomal recessive Weill-Marchesani syndrome" [UniProt]
synonym: "Congenital mesodermal dysmorphodystrophy" [UniProt]
synonym: "Spherophakia-brachymorphia syndrome" [UniProt]
xref: MedGen:C1869114
xref: MeSH:D056846
xref: MIM:277600 "phenotype"
[Term]
id: DI-01145
name: Werner syndrome
def: "A rare autosomal recessive progeroid syndrome characterized by the premature onset of multiple age-related disorders, including atherosclerosis, cancer, non-insulin-dependent diabetes mellitus, ocular cataracts and osteoporosis. The major cause of death, at a median age of 47, is myocardial infarction." []
xref: MedGen:C0043119
xref: MeSH:D014898
xref: MIM:277700 "phenotype"
[Term]
id: DI-01146
name: Wilson disease
def: "An autosomal recessive disorder of copper metabolism in which copper cannot be incorporated into ceruloplasmin in liver, and cannot be excreted from the liver into the bile. Copper accumulates in the liver and subsequently in the brain and kidney. The disease is characterized by neurologic manifestations and signs of cirrhosis." []
synonym: "Hepatolenticular degeneration" [UniProt]
xref: MedGen:C0019202
xref: MeSH:D006527
xref: MIM:277900 "phenotype"
[Term]
id: DI-01147
name: Wiskott-Aldrich syndrome
def: "An X-linked recessive immunodeficiency characterized by eczema, thrombocytopenia, recurrent infections, and bloody diarrhea. Death usually occurs before age 10." []
synonym: "Aldrich syndrome" [UniProt]
synonym: "Eczema-thrombocytopenia-immunodeficiency syndrome" [UniProt]
synonym: "IMD2" [UniProt]
synonym: "Immunodeficiency 2" [UniProt]
synonym: "WAS1" [UniProt]
synonym: "Wiskott-Aldrich syndrome 1" [UniProt]
xref: MedGen:C0043194
xref: MeSH:D014923
xref: MIM:301000 "phenotype"
[Term]
id: DI-01148
name: Ectodermal dysplasia 3, Witkop type
def: "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD3 is characterized by abnormalities largely limited largely to teeth (some of which are missing) and nails (which are poorly formed early in life, especially toenails). This condition is distinguished from anhidrotic ectodermal dysplasia by autosomal dominant inheritance and little involvement of hair and sweat glands. The teeth are not as severely affected." []
synonym: "Dysplasia of nails with hypodontia" [UniProt]
synonym: "Ectodermal dysplasia 3, tooth/nail type" [UniProt]
synonym: "Hypodontia-nail dysgenesis" [UniProt]
synonym: "TNS" [UniProt]
synonym: "Tooth-and-nail syndrome" [UniProt]
synonym: "Witkop syndrome" [UniProt]
xref: MedGen:C0406735
xref: MeSH:D000848
xref: MeSH:D004476
xref: MIM:189500 "phenotype"
[Term]
id: DI-01149
name: Wolcott-Rallison syndrome
def: "A rare autosomal recessive disorder, characterized by permanent neonatal or early infancy insulin-dependent diabetes and, at a later age, epiphyseal dysplasia, osteoporosis, growth retardation and other multisystem manifestations, such as hepatic and renal dysfunctions, intellectual disability and cardiovascular abnormalities." []
synonym: "IDDM-MED syndrome" [UniProt]
synonym: "MED-IDDM syndrome" [UniProt]
synonym: "Multiple epiphyseal dysplasia with early-onset diabetes mellitus" [UniProt]
xref: MedGen:C0432217
xref: MeSH:D010009
xref: MIM:226980 "phenotype"
[Term]
id: DI-01150
name: Wolff-Parkinson-White syndrome
def: "A supernormal conduction disorder characterized by the presence of one or several accessory atrioventricular connections, which can lead to episodes of sporadic tachycardia." []
synonym: "Ventricular familial preexcitation syndrome" [UniProt]
synonym: "WPW syndrome preexcitation syndrome" [UniProt]
xref: MedGen:C0032915
xref: MedGen:C0043202
xref: MeSH:D014927
xref: MIM:194200 "phenotype"
[Term]
id: DI-01151
name: Wolfram syndrome 1
def: "A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses." []
synonym: "Diabetes insipidus and mellitus with optic atrophy and deafness syndrome" [UniProt]
synonym: "DIDMOAD" [UniProt]
synonym: "WFS" [UniProt]
xref: MedGen:C0043207
xref: MeSH:D014929
xref: MIM:222300 "phenotype"
[Term]
id: DI-01152
name: Wolman disease
def: "An autosomal recessive, fulminant form of lysosomal acid lipase deficiency manifesting in early infancy. It is characterized by massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. In addition, accumulation of cholesteryl esters in the zona reticularis of the adrenal gland leads to adrenal calcification and cortical insufficiency. Death occurs early in life from inanition." []
synonym: "Cholesterol ester hydrolase deficiency, complete" [UniProt]
synonym: "LAL deficiency, complete" [UniProt]
synonym: "LIPA deficiency, complete" [UniProt]
synonym: "Lysosomal acid lipase deficiency, acute infantile" [UniProt]
synonym: "Lysosomal acid lipase deficiency, complete" [UniProt]
xref: MedGen:C0043208
xref: MeSH:D015223
xref: MIM:620151 "phenotype"
[Term]
id: DI-01153
name: Xanthinuria 1
def: "A disorder characterized by excretion of very large amounts of xanthine in the urine and a tendency to form xanthine stones. Uric acid is strikingly diminished in serum and urine. XAN1 is due to isolated xanthine dehydrogenase deficiency. Patients can metabolize allopurinol." []
synonym: "Xanthic urolithiasis" [UniProt]
synonym: "Xanthine dehydrogenase deficiency" [UniProt]
synonym: "Xanthine oxidase deficiency" [UniProt]
synonym: "XDH deficiency" [UniProt]
xref: MedGen:C0268118
xref: MeSH:D011686
xref: MeSH:D052878
xref: MIM:278300 "phenotype"
[Term]
id: DI-01154
name: Xanthinuria 2
def: "A disorder characterized by excretion of very large amounts of xanthine in the urine and a tendency to form xanthine stones. Uric acid is strikingly diminished in serum and urine. In addition, XAN2 patients cannot metabolize allopurinol into oxypurinol due to dual deficiency of xanthine dehydrogenase and aldehyde oxidase." []
synonym: "Combined deficiency of xanthine dehydrogenase and aldehyde oxidase" [UniProt]
synonym: "Xanthic urolithiasis" [UniProt]
xref: MedGen:C1863688
xref: MeSH:D008661
xref: MeSH:D052878
xref: MIM:603592 "phenotype"
[Term]
id: DI-01155
name: Xeroderma pigmentosum complementation group A
def: "An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-A patients show the most severe skin symptoms and progressive neurological disorders." []
synonym: "Xeroderma pigmentosum I" [UniProt]
synonym: "XP group A" [UniProt]
synonym: "XP1" [UniProt]
xref: MedGen:CN068460
xref: MeSH:D014983
xref: MIM:278700 "phenotype"
[Term]
id: DI-01156
name: Xeroderma pigmentosum complementation group B
def: "An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-B patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex." []
synonym: "Xeroderma pigmentosum group B with Cockayne syndrome" [UniProt]
synonym: "Xeroderma pigmentosum II" [UniProt]
synonym: "XP group B" [UniProt]
synonym: "XP-B/CS" [UniProt]
synonym: "XP2" [UniProt]
xref: MedGen:C0268136
xref: MedGen:C1970808
xref: MeSH:D014983
xref: MIM:610651 "phenotype"
[Term]
id: DI-01157
name: Xeroderma pigmentosum complementation group C
def: "An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities." []
synonym: "Xeroderma pigmentosum III" [UniProt]
synonym: "XP group C" [UniProt]
synonym: "XP3" [UniProt]
synonym: "XPC" [UniProt]
synonym: "XPCC" [UniProt]
xref: MedGen:C2752147
xref: MeSH:D014983
xref: MIM:278720 "phenotype"
[Term]
id: DI-01158
name: Xeroderma pigmentosum complementation group D
def: "An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-D patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex." []
synonym: "Xeroderma pigmentosum IV" [UniProt]
synonym: "Xeroderma pigmentosum VIII" [UniProt]
synonym: "XP group D" [UniProt]
synonym: "XP group H" [UniProt]
synonym: "XP-D/CS" [UniProt]
synonym: "XP4" [UniProt]
synonym: "XP8" [UniProt]
synonym: "XPDC" [UniProt]
synonym: "XPH" [UniProt]
xref: MedGen:C0268138
xref: MedGen:C1848412
xref: MedGen:C1848413
xref: MedGen:C1848414
xref: MedGen:C1848415
xref: MeSH:D014983
xref: MIM:278730 "phenotype"
[Term]
id: DI-01159
name: Xeroderma pigmentosum complementation group E
def: "An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-E patients show a mild phenotype with minimal or no neurologic features." []
synonym: "Xeroderma pigmentosum V" [UniProt]
synonym: "XP group E" [UniProt]
synonym: "XP5" [UniProt]
xref: MedGen:C1848411
xref: MeSH:D014983
xref: MIM:278740 "phenotype"
[Term]
id: DI-01160
name: Xeroderma pigmentosum complementation group F
def: "An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-F patients show a mild phenotype." []
synonym: "Xeroderma pigmentosum VI" [UniProt]
synonym: "XP group F" [UniProt]
synonym: "XP6" [UniProt]
xref: MedGen:C0268140
xref: MeSH:D014983
xref: MIM:278760 "phenotype"
[Term]
id: DI-01161
name: Xeroderma pigmentosum complementation group G
def: "An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-G patients present features of Cockayne syndrome, cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex." []
synonym: "Xeroderma pigmentosum VII" [UniProt]
synonym: "XP group G" [UniProt]
synonym: "XP-G/CS" [UniProt]
synonym: "XP7" [UniProt]
xref: MedGen:C0268141
xref: MedGen:C1851443
xref: MedGen:C1968561
xref: MeSH:D014983
xref: MIM:278780 "phenotype"
[Term]
id: DI-01162
name: Xeroderma pigmentosum variant type
def: "An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. XPV shows normal nucleotide excision repair, but an exaggerated delay in recovery of replicative DNA synthesis. Most patients with the variant type of xeroderma pigmentosum do not develop clinical symptoms and skin neoplasias until a later age. Clinical manifestations are limited to photo-induced deterioration of the skin and eyes." []
synonym: "Xeroderma pigmentosum with normal DNA repair rates" [UniProt]
xref: MedGen:C1848410
xref: MeSH:D014983
xref: MIM:278750 "phenotype"
[Term]
id: DI-01163
name: Aaland island eye disease
def: "A retinal disease characterized by a combination of fundus hypopigmentation, decreased visual acuity due to foveal hypoplasia, nystagmus, astigmatism, protan color vision defect, myopia, and defective dark adaptation. Except for progression of axial myopia, the disease can be considered to be a stationary condition. Electroretinography reveals abnormalities in both photopic and scotopic functions." []
synonym: "Aland island eye disease" [UniProt]
synonym: "Forsius-Eriksson type ocular albinism" [UniProt]
xref: MedGen:C0268505
xref: MeSH:D014786
xref: MIM:300600 "phenotype"
[Term]
id: DI-01164
name: Acetyl-CoA carboxylase-alpha deficiency
def: "An autosomal recessive inborn error of de novo fatty acid synthesis associated with severe brain damage, persistent myopathy and poor growth." []
synonym: "ACAC deficiency" [UniProt]
synonym: "ACACA deficiency" [UniProt]
synonym: "ACC deficiency" [UniProt]
synonym: "ACC1 deficiency" [UniProt]
synonym: "Acetyl-CoA carboxylase deficiency" [UniProt]
xref: MedGen:C0268603
xref: MeSH:D008052
xref: MIM:613933 "phenotype"
[Term]
id: DI-01165
name: Acheiropody
def: "Very rare condition characterized by bilateral congenital amputations of the hands and feet. The specific malformative phenotype consists of a complete amputation of the distal epiphysis of the humerus, amputation of the tibial diaphysis and aplasia of the radius, ulna, fibula and of all the bones of the hands and feet." []
synonym: "Acheiropodia" [UniProt]
synonym: "Acheiropody Brazilian type" [UniProt]
xref: MedGen:C0265559
xref: MeSH:D005532
xref: MeSH:D006228
xref: MIM:200500 "phenotype"
[Term]
id: DI-01166
name: Achromatopsia 4
def: "An ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus." []
xref: MedGen:C1841721
xref: MeSH:D003117
xref: MIM:613856 "phenotype"
[Term]
id: DI-01167
name: ACTH-independent macronodular adrenal hyperplasia 1
def: "A rare adrenal defect characterized by multiple, bilateral, non- pigmented, benign, adrenocortical nodules. It results in excessive production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes." []
synonym: "ACTH-independent Cushing syndrome" [UniProt]
synonym: "ACTH-independent macronodular adrenocortical hyperplasia" [UniProt]
synonym: "Adrenal Cushing syndrome due to AIMAH" [UniProt]
synonym: "Adrenocorticotropic hormone-independent macronodular adrenal hyperplasia" [UniProt]
synonym: "Corticotropin-independent macronodular adrenal hyperplasia" [UniProt]
xref: MedGen:C1857451
xref: MeSH:D003480
xref: MIM:219080 "phenotype"
[Term]
id: DI-01168
name: Pituitary adenoma 4, ACTH-secreting
def: "A form of pituitary adenoma, a neoplasm of the pituitary gland and one of the most common neuroendocrine tumors. Pituitary adenomas are clinically classified as functional and non-functional tumors, and manifest with a variety of features, including local invasion of surrounding structures and excessive hormone secretion. Functional pituitary adenomas are further classified by the type of hormone they secrete. PITA4 results in excessive production of adrenocorticotropic hormone. This leads to hypersecretion of cortisol by the adrenal glands and ACTH-dependent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes." []
synonym: "Cushing disease" [UniProt]
synonym: "Pituitary Cushing disease" [UniProt]
xref: MedGen:C0221406
xref: MeSH:D049913
xref: MIM:219090 "phenotype"
[Term]
id: DI-01169
name: Epilepsy, progressive myoclonic 4, with or without renal failure
def: "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM4 is an autosomal recessive form associated with renal failure in some cases. Cognitive function is preserved." []
synonym: "Action myoclonus-renal failure syndrome" [UniProt]
synonym: "AMRF" [UniProt]
synonym: "Myoclonus-nephropathy syndrome" [UniProt]
xref: MedGen:C0751779
xref: MeSH:D020191
xref: MIM:254900 "phenotype"
[Term]
id: DI-01171
name: Leukemia, acute myelogenous
def: "A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes." []
synonym: "Acute myeloblastic leukemia" [UniProt]
synonym: "Acute myelocytic leukemia" [UniProt]
synonym: "Acute myeloid leukemia" [UniProt]
synonym: "Acute non-lymphoblastic leukemia" [UniProt]
synonym: "Acute non-lymphocytic leukemia" [UniProt]
xref: MedGen:C0023467
xref: MedGen:C3275959
xref: MeSH:D015470
xref: MIM:601626 "phenotype"
[Term]
id: DI-01172
name: Encephalopathy, acute, infection-induced, 3
def: "A rapidly progressive encephalopathy manifesting in susceptible individuals with seizures and coma. It can occur within days in otherwise healthy children after common viral infections such as influenza and parainfluenza, without evidence of viral infection of the brain or inflammatory cell infiltration. Brain T2-weighted magnetic resonance imaging reveals characteristic symmetric lesions present in the thalami, pons and brainstem." []
synonym: "ANE1" [UniProt]
synonym: "Encephalopathy acute infection-induced 3" [UniProt]
synonym: "Encephalopathy, acute necrotizing, 1" [UniProt]
xref: MedGen:C2675556
xref: MeSH:D004684
xref: MIM:608033 "phenotype"
[Term]
id: DI-01173
name: Mitochondrial complex I deficiency, nuclear type 20
def: "An autosomal recessive metabolic disorder associated with mitochondrial complex I deficiency, resulting in multisystemic and variable manifestations. Clinical features include infantile onset of acute metabolic acidosis, Reye-like episodes (brain edema and vomiting that may rapidly progress to seizures, coma and death), exercise intolerance, hypertrophic cardiomyopathy, liver failure, muscle weakness, and neurologic dysfunction." []
synonym: "ACAD9 deficiency" [UniProt]
synonym: "Acyl-CoA dehydrogenase family, member 9, deficiency" [UniProt]
synonym: "Mitochondrial complex I deficiency due to ACAD9 deficiency" [UniProt]
xref: MedGen:C1970173
xref: MeSH:D008661
xref: MeSH:D028361
xref: MIM:611126 "phenotype"
[Term]
id: DI-01174
name: Adie pupil
def: "A stationary, benign disorder characterized by tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes. Adie pupil is a characteristic of Charcot-Marie-Tooth disease type 2J." []
synonym: "Adie syndrome" [UniProt]
synonym: "Holmes-Adie syndrome" [UniProt]
synonym: "Tonic pupil" [UniProt]
xref: MedGen:C0001519
xref: MeSH:D015845
xref: MIM:103100 "phenotype"
[Term]
id: DI-01175
name: Agenesis of the corpus callosum, with abnormal genitalia
def: "An X-linked syndrome with variable expression in females. It is characterized by agenesis of corpus callosum, intellectual disability and seizures. Manifestations in surviving males include severe acquired micrencephaly, intellectual disability, limb contractures, scoliosis, tapered fingers with hyperconvex nails, a characteristic face with large eyes, prominent supraorbital ridges, synophrys, optic atrophy, broad alveolar ridges, and seizures. Urologic anomalies include renal dysplasia, cryptorchidism, and hypospadias." []
synonym: "ACC with abnormal genitalia" [UniProt]
synonym: "Corpus callosum, agenesis of, with abnormal genitalia" [UniProt]
synonym: "Micrencephaly-corpus callosum agenesis-abnormal genitalia" [UniProt]
synonym: "Proud syndrome" [UniProt]
synonym: "Proud-Levine-Carpenter syndrome" [UniProt]
xref: MedGen:C0796124
xref: MeSH:D009421
xref: MIM:300004 "phenotype"
[Term]
id: DI-01176
name: Glycogen storage disease 12
def: "A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. It may lead to myopathy with exercise intolerance and rhabdomyolysis." []
synonym: "ALDOA deficiency" [UniProt]
synonym: "Aldolase A deficiency" [UniProt]
synonym: "Glycogen storage disease XII" [UniProt]
synonym: "GSD XII" [UniProt]
synonym: "Red cell aldolase deficiency" [UniProt]
xref: MedGen:C0272066
xref: MeSH:D006008
xref: MIM:611881 "phenotype"
[Term]
id: DI-01177
name: Hypotrichosis 7
def: "A condition characterized by the presence of less than the normal amount of hair. Affected individuals have sparse or absent scalp, axillary and body hair and sparse eyebrows and eyelashes. HYPT7 inheritance is autosomal recessive." []
synonym: "AH" [UniProt]
synonym: "Alopecia universalis congenita Mari type" [UniProt]
synonym: "Hypotrichosis autosomal recessive" [UniProt]
synonym: "Hypotrichosis localized autosomal recessive 2" [UniProt]
synonym: "LAH2" [UniProt]
synonym: "Total hypotrichosis Mari type" [UniProt]
xref: MedGen:C1836672
xref: MeSH:D007039
xref: MIM:604379 "phenotype"
[Term]
id: DI-01178
name: Alopecia, neurologic defects, and endocrinopathy syndrome
def: "Affected individuals have hair loss of variable severity, ranging from complete alopecia to near-normal scalp hair with absence of body hair. All have moderate to severe intellectual disability, progressive motor deterioration and central hypogonadotropic hypogonadism with delayed or absent puberty and central adrenal insufficiency. Additional features included short stature, microcephaly, gynecomastia, pigmentary anomalies, hypodontia, kyphoscoliosis, ulnar deviation of the hands, and loss of subcutaneous fat." []
synonym: "Alopecia-progressive neurological defect-endocrinopathy" [UniProt]
synonym: "ANE syndrome" [UniProt]
xref: MedGen:C2677535
xref: MeSH:D000505
xref: MeSH:D004700
xref: MeSH:D009422
xref: MIM:612079 "phenotype"
[Term]
id: DI-01179
name: Myopathy, myofibrillar, 2
def: "A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM2 is characterized by weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, hypertrophic cardiomyopathy, and cataract in a subset of patients." []
synonym: "Alpha-B crystallinopathy" [UniProt]
synonym: "Alpha-B crystallinopathy with cataract" [UniProt]
synonym: "Desmin-related myopathy with cataract" [UniProt]
synonym: "MFM alpha-B crystallin-related" [UniProt]
synonym: "Myofibrillar myopathy alpha-B crystallin-related" [UniProt]
synonym: "Myofibrillar myopathy with or without cataract and/or cardiomyopathy" [UniProt]
synonym: "Myopathy cardioskeletal desmin-related with cataract" [UniProt]
synonym: "Myopathy desmin-related associated with mutation in the CRYAB gene" [UniProt]
xref: MedGen:C1837317
xref: MeSH:D020914
xref: MIM:608810 "phenotype"
[Term]
id: DI-01180
name: Alpha-thalassemia myelodysplasia syndrome
def: "A disorder characterized by hypochromic, microcytic red blood cells, hemoglobin H detected in peripheral blood, and multilineage myelodysplasia." []
synonym: "Acquired alpha-thalassemia with myelodysplastic syndrome" [UniProt]
synonym: "Hemoglobin H disease acquired" [UniProt]
xref: MedGen:C0585216
xref: MeSH:D009190
xref: MeSH:D017085
xref: MIM:300448 "phenotype"
[Term]
id: DI-01181
name: Alpha-thalassemia
def: "A form of thalassemia. Thalassemias are common monogenic diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of alpha-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. The level of alpha chain production can range from none to very nearly normal levels. Deletion of both copies of each of the two alpha-globin genes causes alpha(0)- thalassemia, also known as homozygous alpha thalassemia. Due to the complete absence of alpha chains, the predominant fetal hemoglobin is a tetramer of gamma-chains (Bart hemoglobin) that has essentially no oxygen carrying capacity. This causes oxygen starvation in the fetal tissues leading to prenatal lethality or early neonatal death. The loss of two alpha genes results in mild alpha-thalassemia, also known as heterozygous alpha-thalassemia. Affected individuals have small red cells and a mild anemia (microcytosis). If three of the four alpha- globin genes are functional, individuals are completely asymptomatic. Some rare forms of alpha-thalassemia are due to point mutations (non- deletional alpha-thalassemia)." []
xref: MedGen:C0002312
xref: MeSH:D017085
xref: MIM:604131 "phenotype"
[Term]
id: DI-01182
name: Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity
def: "An immunological disorder characterized by oligoclonal expansion of TCR gamma/delta T-cells, TCR alpha/beta T-cell lymphopenia, severe, disseminated cytomegalovirus infection and autoimmune cytopenia." []
xref: MedGen:C1835931
xref: MeSH:D008231
xref: MeSH:D015551
xref: MIM:609889 "phenotype"
[Term]
id: DI-01183
name: AMME complex
def: "An X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, intellectual disability, midface hypoplasia and elliptocytosis." []
synonym: "Alport syndrome with intellectual disability, midface hypoplasia and elliptocytosis" [UniProt]
xref: MedGen:C1846242
xref: MeSH:D009394
xref: MIM:300194 "phenotype"
[Term]
id: DI-01184
name: Aniridia 1
def: "A congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time." []
synonym: "AN" [UniProt]
synonym: "AN2" [UniProt]
synonym: "Aniridia type II" [UniProt]
xref: MedGen:C0003076
xref: MeSH:D015783
xref: MIM:106210 "phenotype"
[Term]
id: DI-01185
name: Nail disorder, non-syndromic congenital, 4
def: "A nail disorder characterized by congenital anonychia or its milder phenotypic variant hyponychia. Anonychia/hyponychia is the absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies." []
synonym: "Anonychia congenita totalis" [UniProt]
synonym: "Anonychia/hyponychia congenita" [UniProt]
synonym: "Hyponychia congenita" [UniProt]
xref: MedGen:C0265998
xref: MedGen:C3277900
xref: MeSH:D009260
xref: MIM:206800 "phenotype"
[Term]
id: DI-01186
name: Aortic valve disease 1
def: "A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome." []
synonym: "Aortic valve disease" [UniProt]
synonym: "BAV" [UniProt]
synonym: "Bicuspid aortic valve" [UniProt]
synonym: "Calcific aortic stenosis" [UniProt]
synonym: "Calcification of aortic valve" [UniProt]
xref: MedGen:C0149630
xref: MedGen:C0428791
xref: MedGen:C1260873
xref: MeSH:D001024
xref: MIM:109730 "phenotype"
[Term]
id: DI-01187
name: Apparent mineralocorticoid excess
def: "An autosomal recessive form of low-renin hypertension. It is usually diagnosed within the first years of life and is characterized by polyuria and polydipsia, failure to thrive, hypernatremia, severe hypertension with low renin and aldosterone levels, profound hypokalemia with metabolic alkalosis, and most often nephrocalcinosis." []
synonym: "AME1" [UniProt]
synonym: "Cortisol 11-beta-ketoreductase deficiency" [UniProt]
xref: MedGen:C2936861
xref: MeSH:D043204
xref: MIM:218030 "phenotype"
[Term]
id: DI-01188
name: Adenine phosphoribosyltransferase deficiency
def: "An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones." []
synonym: "2,8-dihydroxyadenine urolithiasis" [UniProt]
synonym: "APRT deficiency" [UniProt]
synonym: "Nephrolithiasis DHA" [UniProt]
synonym: "Urolithiasis DHA" [UniProt]
xref: MedGen:C0268120
xref: MedGen:C0268121
xref: MedGen:C3665382
xref: MeSH:D011686
xref: MIM:614723 "phenotype"
[Term]
id: DI-01189
name: Cerebral creatine deficiency syndrome 3
def: "An autosomal recessive disorder characterized by developmental delay/regression, intellectual disability, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. Most patients develop a myopathy characterized by muscle weakness and atrophy later in life." []
synonym: "AGAT deficiency" [UniProt]
synonym: "Arginine:glycine amidinotransferase deficiency" [UniProt]
synonym: "Creatine deficiency syndrome due to AGAT deficiency" [UniProt]
synonym: "GATM deficiency" [UniProt]
xref: MedGen:C2675179
xref: MeSH:D000592
xref: MeSH:D008607
xref: MIM:612718 "phenotype"
[Term]
id: DI-01190
name: Arterial tortuosity syndrome
def: "An autosomal recessive disorder characterized by tortuosity and elongation of major arteries, often resulting in death at young age. Other typical features include aneurysms of large arteries and stenosis of the pulmonary artery, in association with facial features and several connective tissue manifestations such as soft skin and joint laxity. Histopathological findings include fragmentation of elastic fibers in the tunica media of large arteries." []
synonym: "Arterial tortuosity" [UniProt]
xref: MedGen:C1859726
xref: MeSH:D003240
xref: MeSH:D014652
xref: MIM:208050 "phenotype"
[Term]
id: DI-01191
name: ARTS syndrome
def: "A disorder characterized by intellectual disability, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Susceptibility to infections, especially of the upper respiratory tract, can result in early death." []
synonym: "Fatal X-linked ataxia with deafness and loss of vision" [UniProt]
synonym: "MRXS18" [UniProt]
synonym: "MRXSARTS" [UniProt]
xref: MedGen:C0796028
xref: MeSH:D038901
xref: MIM:301835 "phenotype"
[Term]
id: DI-01192
name: Short-rib thoracic dysplasia 2 with or without polydactyly
def: "A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome." []
synonym: "Asphyxiating thoracic dystrophy 2" [UniProt]
synonym: "ATD2" [UniProt]
synonym: "JATD" [UniProt]
synonym: "Jeune asphyxiating thoracic dystrophy" [UniProt]
synonym: "Jeune syndrome 2" [UniProt]
xref: MedGen:C1970005
xref: MeSH:D012779
xref: MIM:611263 "phenotype"
[Term]
id: DI-01193
name: Athabaskan brainstem dysgenesis syndrome
def: "Characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Some patients had swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies." []
synonym: "Narvajo brainstem syndrome" [UniProt]
xref: MedGen:C1832215
xref: MeSH:D006319
xref: MeSH:D009421
xref: MIM:601536 "phenotype"
[Term]
id: DI-01194
name: Dermatitis atopic 2
def: "Atopic dermatitis is a complex, inflammatory disease with multiple alleles at several loci thought to be involved in the pathogenesis. It commonly begins in infancy or early childhood and is characterized by a chronic relapsing form of skin inflammation, a disturbance of epidermal barrier function that culminates in dry skin, and IgE- mediated sensitization to food and environmental allergens. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee." []
synonym: "Atopic eczema" [UniProt]
xref: MedGen:C1853965
xref: MeSH:D003876
xref: MIM:605803 "phenotype"
[Term]
id: DI-01195
name: Atrioventricular septal defect 2
def: "A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction." []
xref: MedGen:C1853508
xref: MedGen:C1853509
xref: MeSH:D004694
xref: MIM:606217 "phenotype"
[Term]
id: DI-01196
name: Gaucher disease, atypical, due to saposin C deficiency
def: "A disease characterized by marked glucosylceramide accumulation in the spleen without having a deficiency of glucosylceramide-beta glucosidase characteristic of classic Gaucher disease. Gaucher disease is a lysosomal storage disorder characterized by skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement." []
xref: MedGen:C1864651
xref: MeSH:D005776
xref: MIM:610539 "phenotype"
[Term]
id: DI-01197
name: Krabbe disease, atypical, due to saposin A deficiency
def: "An autosomal recessive disorder of galactosylceramide metabolism. Clinical features include neurologic regression around age 3 months, loss of spontaneous movements, hyporeflexia, generalized brain atrophy, and diffuse white matter dysmyelination." []
synonym: "Saposin A deficiency" [UniProt]
xref: MedGen:C2673266
xref: MeSH:D007965
xref: MIM:611722 "phenotype"
[Term]
id: DI-01198
name: Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia
def: "A rare disease characterized by the combination of chronic mucocutaneous candidiasis, hypoparathyroidism and Addison disease. Symptoms of mucocutaneous candidiasis manifest first, followed by hypotension or fatigue occurring as a result of Addison disease. APS1 is associated with other autoimmune disorders including diabetes mellitus, vitiligo, alopecia, hepatitis, pernicious anemia and primary hypothyroidism." []
synonym: "APECED" [UniProt]
synonym: "APS-1" [UniProt]
synonym: "Autoimmune polyendocrine syndrome type I" [UniProt]
synonym: "Autoimmune polyendocrinopathy syndrome type I" [UniProt]
synonym: "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy" [UniProt]
synonym: "Autosomal dominant autoimmune polyendocrinopathy syndrome type I" [UniProt]
synonym: "Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis" [UniProt]
synonym: "PGA I" [UniProt]
synonym: "Polyglandular autoimmune syndrome type I" [UniProt]
synonym: "Polyglandular deficiency syndrome Persian-Jewish type" [UniProt]
synonym: "Whitaker syndrome" [UniProt]
xref: MedGen:C0085859
xref: MedGen:C1855868
xref: MedGen:C1855869
xref: MedGen:C2749602
xref: MedGen:CN068638
xref: MeSH:D016884
xref: MIM:240300 "phenotype"
[Term]
id: DI-01199
name: Aplasia of lacrimal and salivary glands
def: "A rare condition characterized by dry conjunctival mucosae, irritable eyes, epiphora (constant tearing), and xerostomia (dryness of the mouth), which increases risk of dental erosion, dental caries, periodontal disease, and oral infections. ALSG has variable expressivity, and affected individuals may have aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands and absence of the lacrimal puncta." []
synonym: "Absence of salivary glands" [UniProt]
synonym: "Parotid aplasia or hypoplasia" [UniProt]
xref: MedGen:C0158667
xref: MedGen:C1867059
xref: MedGen:C1867060
xref: MeSH:D007766
xref: MeSH:D014987
xref: MIM:180920 "phenotype"
[Term]
id: DI-01200
name: Cataract 9, multiple types
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT9 includes nuclear, zonular central nuclear, anterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total cataracts, among others. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye." []
synonym: "Autosomal dominant congenital cataract" [UniProt]
synonym: "Autosomal recessive congenital cataract 1" [UniProt]
synonym: "Cataract 9, multiple types, with or without microcornea" [UniProt]
synonym: "Cataract autosomal dominant" [UniProt]
synonym: "CATC1" [UniProt]
xref: MedGen:C1858679
xref: MeSH:D002386
xref: MIM:604219 "phenotype"
[Term]
id: DI-01202
name: Coronary artery disease, autosomal dominant, 1
def: "A common heart disease characterized by reduced or absent blood flow in one or more of the arteries that encircle and supply the heart. Its most important complication is acute myocardial infarction." []
synonym: "Coronary artery disease with myocardial infarction" [UniProt]
xref: MedGen:C1842247
xref: MeSH:D003324
xref: MIM:608320 "phenotype"
[Term]
id: DI-01203
name: Coronary artery disease, autosomal dominant, 2
def: "A common heart disease characterized by reduced or absent blood flow in one or more of the arteries that encircle and supply the heart. Its most important complication is acute myocardial infarction." []
xref: MedGen:C1970440
xref: MeSH:D003324
xref: MIM:610947 "phenotype"
[Term]
id: DI-01204
name: Cutis laxa, autosomal dominant, 1
def: "A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema." []
xref: MedGen:C0268350
xref: MedGen:C3276539
xref: MeSH:D003483
xref: MIM:123700 "phenotype"
[Term]
id: DI-01205
name: Deafness, autosomal dominant, 23
def: "A form of non-syndromic deafness characterized by prelingual, bilateral, symmetric hearing loss with a conductive component present in some but not all patients." []
xref: MedGen:C1854594
xref: MeSH:D006319
xref: MIM:605192 "phenotype"
[Term]
id: DI-01206
name: Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1
def: "A disorder characterized by the association of progressive sensorineural high-frequency hearing loss with dentinogenesis imperfecta." []
synonym: "DFNA39/dentinogenesis imperfecta 1 syndrome" [UniProt]
synonym: "DFNA39/DGI1 syndrome" [UniProt]
synonym: "DGI1/DFNA39 syndrome" [UniProt]
xref: MedGen:C1854146
xref: MeSH:D003811
xref: MeSH:D006319
xref: MIM:605594 "phenotype"
[Term]
id: DI-01207
name: Renal tubular acidosis, distal, 1
def: "An autosomal dominant disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification." []
synonym: "Autosomal dominant RTA distal type" [UniProt]
synonym: "Renal tubular acidosis I" [UniProt]
synonym: "RTA classic type" [UniProt]
synonym: "RTA gradient type" [UniProt]
xref: MedGen:C0259810
xref: MedGen:C2931885
xref: MeSH:D000141
xref: MIM:179800 "phenotype"
[Term]
id: DI-01208
name: Myopathy, myofibrillar, 5
def: "A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM5 is characterized by onset in adulthood, clinical features of a limb-girdle myopathy, and focal myofibrillar destruction." []
synonym: "Autosomal dominant filaminopathy" [UniProt]
synonym: "MFM filamin C-related" [UniProt]
synonym: "Myopathy myofibrillar filamin C-related" [UniProt]
xref: MedGen:C1836050
xref: MeSH:D020914
xref: MIM:609524 "phenotype"
[Term]
id: DI-01209
name: GLUT1 deficiency syndrome 1
def: "A neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring spells, and episodic eye movements, occurs within the first 4 months of life. Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe intellectual disability." []
synonym: "Blood-brain barrier glucose transport defect" [UniProt]
synonym: "Encephalopathy due to GLUT1 deficiency" [UniProt]
synonym: "GLUT-1 deficiency syndrome" [UniProt]
synonym: "GLUT1 deficiency" [UniProt]
synonym: "GLUT1 deficiency syndrome autosomal recessive" [UniProt]
xref: MedGen:C1847501
xref: MedGen:C3149117
xref: MeSH:D001927
xref: MIM:606777 "phenotype"
[Term]
id: DI-01210
name: Hypercarotenemia and vitamin A deficiency, autosomal dominant
def: "A disorder characterized by increased serum beta-carotene, decreased conversion of beta-carotene to vitamin A and decreased serum vitamin A." []
synonym: "Hypercarotenemia and hypovitaminosis A" [UniProt]
xref: MedGen:C2676023
xref: MedGen:C2676024
xref: MeSH:D014802
xref: MIM:115300 "phenotype"
[Term]
id: DI-01211
name: Tooth agenesis, selective, 1
def: "A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). STHAG1 can be associated with orofacial cleft in some patients." []
synonym: "Absence of second premolars and third molars" [UniProt]
synonym: "Familial tooth agenesis" [UniProt]
synonym: "HYD1" [UniProt]
synonym: "Hypodontia/oligodontia 1" [UniProt]
synonym: "Hypodontia/oligodontia with orofacial cleft" [UniProt]
synonym: "Selective tooth agenesis 1" [UniProt]
synonym: "Selective tooth agenesis with orofacial cleft" [UniProt]
xref: MedGen:C0020608
xref: MedGen:C1970117
xref: MedGen:C1970118
xref: MedGen:C3489529
xref: MeSH:D000848
xref: MIM:106600 "phenotype"
[Term]
id: DI-01212
name: Hypophosphatemic rickets, autosomal dominant
def: "A disease characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses." []
synonym: "Autosomal dominant hypophosphatemia" [UniProt]
synonym: "Autosomal dominant vitamin D-resistant rickets" [UniProt]
xref: MedGen:C0342642
xref: MeSH:D012279
xref: MIM:193100 "phenotype"
[Term]
id: DI-01213
name: Keratitis hereditary
def: "An ocular disorder characterized by corneal opacification, recurrent stromal keratitis and vascularization." []
synonym: "Autosomal dominant keratitis" [UniProt]
xref: MedGen:C1835698
xref: MeSH:D007634
xref: MIM:148190 "phenotype"
[Term]
id: DI-01214
name: Larsen syndrome
def: "An osteochondrodysplasia characterized by large-joint dislocations and characteristic craniofacial abnormalities. The cardinal features of the condition are dislocations of the hip, knee and elbow joints, with equinovarus or equinovalgus foot deformities. Spatula-shaped fingers, most marked in the thumb, are also present. Craniofacial anomalies include hypertelorism, prominence of the forehead, a depressed nasal bridge, and a flattened midface. Cleft palate and short stature are often associated features. Spinal anomalies include scoliosis and cervical kyphosis. Hearing loss is a well-recognized complication." []
xref: MedGen:C0175778
xref: MedGen:C1835564
xref: MeSH:D002972
xref: MeSH:D004204
xref: MeSH:D010009
xref: MeSH:D019465
xref: MIM:150250 "phenotype"
[Term]
id: DI-01215
name: Cataract 12, multiple types
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. The opacities can be nuclear, sutural, stellate cortical, lamellar, cortical, nuclear embryonic, Y-sutural, punctate cortical, congenital or with juvenile- and adult-onset." []
xref: MedGen:C1969032
xref: MeSH:D002386
xref: MIM:611597 "phenotype"
[Term]
id: DI-01216
name: Myotonia congenita, autosomal dominant
def: "A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal dominant form (Thomsen disease) is less common and less severe than the autosomal recessive one (Becker disease). A milder form of autosomal dominant myotonia is characterized by isolated myotonia without muscle weakness, hypotrophy, or hypertrophy (myotonia levior)." []
synonym: "Myotonia levior" [UniProt]
synonym: "THD" [UniProt]
synonym: "Thomsen disease" [UniProt]
xref: MedGen:C0270959
xref: MedGen:C2936781
xref: MeSH:D009224
xref: MIM:160800 "phenotype"
[Term]
id: DI-01217
name: Diabetes insipidus, neurohypophyseal
def: "A disease characterized by persistent thirst, polydipsia and polyuria. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopressin deficiency during childhood." []
synonym: "CDI" [UniProt]
synonym: "Diabetes insipidus cranial type" [UniProt]
synonym: "Neurogenic diabetes insipidus" [UniProt]
synonym: "Primary central diabetes insipidus" [UniProt]
xref: MedGen:C0687720
xref: MeSH:D020790
xref: MIM:125700 "phenotype"
[Term]
id: DI-01218
name: Pheochromocytoma/paraganglioma syndrome 3
def: "A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL3 inheritance is autosomal dominant." []
synonym: "Familial non-chromaffin paragangliomas 3" [UniProt]
synonym: "Glomus tumors, familial, 3" [UniProt]
synonym: "Paragangliomas 3" [UniProt]
synonym: "PGL3" [UniProt]
xref: MedGen:C1854336
xref: MeSH:D010235
xref: MIM:605373 "phenotype"
[Term]
id: DI-01220
name: Deafness, autosomal dominant, 44
def: "A form of non-syndromic deafness characterized by initially moderate hearing loss that affects mainly low to mid frequencies. Later, it progresses to involve all the frequencies and leads to a profound hearing loss by the 6th decade." []
xref: MedGen:C1843895
xref: MeSH:D003638
xref: MIM:607453 "phenotype"
[Term]
id: DI-01221
name: Obesity
def: "A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat." []
xref: MedGen:C0028754
xref: MedGen:C0039870
xref: MeSH:D009765
xref: MIM:601665 "phenotype"
[Term]
id: DI-01222
name: Oculodentodigital dysplasia
def: "A disease characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding. Cardiac abnormalities are observed in rare instances." []
synonym: "Oculo-dento-digital dysplasia" [UniProt]
synonym: "Oculo-dento-digital syndrome" [UniProt]
synonym: "Oculodentodigital syndrome" [UniProt]
synonym: "Oculodentoosseous dysplasia" [UniProt]
synonym: "ODD syndrome" [UniProt]
synonym: "ODDS" [UniProt]
synonym: "ODOD" [UniProt]
xref: MedGen:C0812437
xref: MeSH:D008850
xref: MeSH:D013576
xref: MeSH:D014071
xref: MIM:164200 "phenotype"
[Term]
id: DI-01223
name: Parkinson disease 1, autosomal dominant
def: "A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features." []
synonym: "Atypical parkinson disease" [UniProt]
synonym: "Lewy body parkinsonism" [UniProt]
synonym: "Parkinson disease autosomal dominant 1" [UniProt]
synonym: "Parkinson disease familial type 1" [UniProt]
xref: MedGen:C1868595
xref: MedGen:C1868596
xref: MedGen:C3149705
xref: MeSH:D010300
xref: MIM:168601 "phenotype"
[Term]
id: DI-01224
name: Pseudohypoaldosteronism 1, autosomal dominant
def: "A salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1A is a mild form characterized by target organ defects confined to kidney. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment." []
synonym: "PHA type I, autosomal dominant" [UniProt]
synonym: "Pseudohypoaldosteronism type I, autosomal dominant" [UniProt]
xref: MedGen:C1449842
xref: MeSH:D011546
xref: MIM:177735 "phenotype"
[Term]
id: DI-01225
name: Neutropenia, severe congenital 1, autosomal dominant
def: "A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections." []
xref: MedGen:C1859966
xref: MeSH:D009503
xref: MIM:202700 "phenotype"
[Term]
id: DI-01226
name: Neutropenia, severe congenital 2, autosomal dominant
def: "A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections." []
xref: MedGen:C2751288
xref: MeSH:D009503
xref: MIM:613107 "phenotype"
[Term]
id: DI-01227
name: Myoglobinuria, acute recurrent, autosomal recessive
def: "Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis (necrosis or disintegration of skeletal muscle) associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur." []
synonym: "Acute recurrent rhabdomyolysis" [UniProt]
synonym: "Familial paroxysmal paralytic myoglobinuria" [UniProt]
xref: MedGen:C1849386
xref: MedGen:CN068857
xref: MeSH:D009212
xref: MIM:268200 "phenotype"
[Term]
id: DI-01228
name: Familial adenomatous polyposis 2
def: "A condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma." []
synonym: "Adenomas multiple colorectal autosomal recessive" [UniProt]
synonym: "Colorectal adenomatous polyposis autosomal recessive" [UniProt]
xref: MedGen:C1837991
xref: MeSH:D018256
xref: MIM:608456 "phenotype"
[Term]
id: DI-01230
name: Ichthyosis, congenital, autosomal recessive 1
def: "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs." []
synonym: "Autosomal recessive congenital ichthyosis 1 with bathing suit distribution" [UniProt]
synonym: "Autosomal recessive congenital ichthyosis TGM1-related" [UniProt]
synonym: "Collodion fetus" [UniProt]
synonym: "Desquamation of newborn" [UniProt]
synonym: "Ichthyosis congenita" [UniProt]
synonym: "Ichthyosis congenita II" [UniProt]
synonym: "ICR2" [UniProt]
synonym: "Lamellar exfoliation of newborn" [UniProt]
synonym: "Lamellar ichthyosis 1" [UniProt]
synonym: "LI1" [UniProt]
synonym: "Non-erythrodermic ichthyosis" [UniProt]
synonym: "Self-healing collodion baby" [UniProt]
synonym: "SHCB" [UniProt]
xref: MedGen:C3536797
xref: MeSH:D017490
xref: MIM:242300 "phenotype"
[Term]
id: DI-01231
name: Indifference to pain, congenital, autosomal recessive
def: "A disorder characterized by congenital inability to perceive any form of pain, in any part of the body. All other sensory modalities are preserved and the peripheral and central nervous systems are apparently intact. Patients perceive the sensations of touch, warm and cold temperature, proprioception, tickle and pressure, but not painful stimuli. There is no evidence of a motor or sensory neuropathy, either axonal or demyelinating." []
synonym: "Asymbolia for pain" [UniProt]
synonym: "Channelopathy-associated insensitivity to pain" [UniProt]
synonym: "Congenital analgesia autosomal recessive" [UniProt]
xref: MedGen:C1855739
xref: MeSH:D000699
xref: MIM:243000 "phenotype"
[Term]
id: DI-01233
name: Cataract 22, multiple types
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT22 includes nuclear cataract among others. Nuclear cataracts affect the central nucleus of the eye, and are often not highly visually significant. The density of the opacities varies greatly from fine dots to a dense, white and chalk-like, central cataract. The condition is usually bilateral. Nuclear cataracts are often combined with opacified cortical fibers encircling the nuclear opacity, which are referred to as cortical riders." []
synonym: "Autosomal recessive congenital nuclear cataract 2" [UniProt]
synonym: "CATCN2" [UniProt]
synonym: "Nuclear cataract 22" [UniProt]
xref: MedGen:C1857853
xref: MeSH:D002386
xref: MIM:609741 "phenotype"
[Term]
id: DI-01234
name: Cataract 17, multiple types
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT17 includes nuclear and pulverulent cataracts, among others. Nuclear cataracts affect the central nucleus of the eye, are often not highly visually significant. The density of the opacities varies greatly from fine dots to a dense, white and chalk-like, central cataract. The condition is usually bilateral. Nuclear cataracts are often combined with opacified cortical fibers encircling the nuclear opacity, which are referred to as cortical riders. Pulverulent cataracts are characterized by a dust-like, 'pulverised' appearance of the opacities which can be found in any part of the lens." []
synonym: "Autosomal recessive congenital nuclear cataract 3" [UniProt]
synonym: "Cataract 17, multiple types, with or without microcornea" [UniProt]
synonym: "CATCN3" [UniProt]
xref: MedGen:C1969062
xref: MeSH:D002386
xref: MIM:611544 "phenotype"
[Term]
id: DI-01235
name: Cataract 33, multiple types
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT33 has juvenile-onset and the opacities are restricted to the cortex of the lens, not involving the nucleus." []
synonym: "Cortical cataract 33" [UniProt]
synonym: "Cortical juvenile-onset cataract" [UniProt]
xref: MedGen:C1969644
xref: MeSH:D002386
xref: MIM:611391 "phenotype"
[Term]
id: DI-01236
name: Cutis laxa, autosomal recessive, 1A
def: "A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. Type I autosomal recessive cutis laxa is a specific, life-threatening disorder with organ involvement, lung atelectasis and emphysema, diverticula of the gastrointestinal and genitourinary systems, and vascular anomalies. Associated cranial anomalies, late closure of the fontanel, joint laxity, hip dislocation, and inguinal hernia have been observed but are uncommon." []
synonym: "CL type I" [UniProt]
synonym: "Cutis laxa autosomal recessive type I" [UniProt]
synonym: "Cutis laxa autosomal recessive type IA" [UniProt]
xref: MedGen:C0268351
xref: MedGen:CN033664
xref: MeSH:D003483
xref: MIM:219100 "phenotype"
[Term]
id: DI-01237
name: Renal tubular acidosis, distal, 4, with hemolytic anemia
def: "An autosomal recessive disease characterized by the association of hemolytic anemia with distal renal tubular acidosis, the reduced ability to acidify urine resulting in variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis." []
synonym: "Autosomal recessive distal RTA with hemolytic anemia" [UniProt]
xref: MedGen:C1969038
xref: MeSH:D000141
xref: MIM:611590 "phenotype"
[Term]
id: DI-01238
name: Parkinson disease 2
def: "A neurodegenerative disorder characterized by bradykinesia, rigidity, postural instability, tremor, and onset usually before 40. It differs from classic Parkinson disease by early DOPA-induced dyskinesia, diurnal fluctuation of the symptoms, sleep benefit, dystonia and hyper-reflexia. Dementia is absent. Pathologically, patients show loss of dopaminergic neurons in the substantia nigra, similar to that seen in Parkinson disease; however, Lewy bodies (intraneuronal accumulations of aggregated proteins) are absent." []
synonym: "Autosomal recessive early-onset Parkinson disease type 2" [UniProt]
synonym: "Autosomal recessive juvenile Parkinson disease" [UniProt]
synonym: "Chromosome 6-linked autosomal recessive parkinsonism" [UniProt]
synonym: "Early-onset parkinsonism with diurnal fluctuation" [UniProt]
synonym: "EPDF" [UniProt]
synonym: "Parkinsonism young adult onset" [UniProt]
synonym: "PDJ" [UniProt]
xref: MedGen:C1868675
xref: MeSH:D020734
xref: MIM:600116 "phenotype"
[Term]
id: DI-01239
name: Parkinson disease 6
def: "An early-onset form of Parkinson disease, a neurodegenerative disorder characterized by parkinsonian signs such as rigidity, resting tremor and bradykinesia. A subset of patients manifest additional symptoms including hyperreflexia, autonomic instability, dementia and psychiatric disturbances. Symptoms show diurnal fluctuation and can improve after sleep. PARK6 pathogenesis involves respiratory complex I deficiency causing mitochondrial depolarization and dysfunction. Inheritance is autosomal recessive." []
synonym: "Autosomal recessive early-onset Parkinson disease type 6" [UniProt]
synonym: "Parkinson disease 6 early-onset" [UniProt]
synonym: "Parkinson disease autosomal recessive early-onset digenic PINK1/DJ1" [UniProt]
synonym: "Parkinsonism young adult onset" [UniProt]
xref: MedGen:C1853833
xref: MedGen:C1970035
xref: MedGen:C2751533
xref: MeSH:D010300
xref: MeSH:D020734
xref: MIM:605909 "phenotype"
[Term]
id: DI-01240
name: Parkinson disease 7
def: "A neurodegenerative disorder characterized by resting tremor, postural tremor, bradykinesia, muscular rigidity, anxiety and psychotic episodes. PARK7 has onset before 40 years, slow progression and initial good response to levodopa. Some patients may show traits reminiscent of amyotrophic lateral sclerosis-parkinsonism/dementia complex (Guam disease)." []
synonym: "Amyotrophic lateral sclerosis-parkinsonism/dementia complex type 2" [UniProt]
synonym: "Autosomal recessive early-onset Parkinson disease type 7" [UniProt]
xref: MedGen:C1853445
xref: MeSH:D010300
xref: MeSH:D020734
xref: MIM:606324 "phenotype"
[Term]
id: DI-01241
name: Immunodeficiency with hyper-IgM 2
def: "A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections." []
synonym: "Hyper-IgM immunodeficiency type 2" [UniProt]
synonym: "Hyper-IgM syndrome 2" [UniProt]
xref: MedGen:C1720956
xref: MeSH:D053306
xref: MIM:605258 "phenotype"
[Term]
id: DI-01242
name: Hypercholesterolemia, familial, 4
def: "A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL4 inheritance is autosomal recessive." []
synonym: "ARH" [UniProt]
synonym: "ARH1" [UniProt]
synonym: "ARH2" [UniProt]
synonym: "Autosomal recessive hypercholesterolemia 1" [UniProt]
synonym: "Autosomal recessive hypercholesterolemia 2" [UniProt]
synonym: "FHCB1" [UniProt]
synonym: "FHCB2" [UniProt]
synonym: "Hypercholesterolemia, autosomal recessive" [UniProt]
xref: MedGen:C1863512
xref: MeSH:D006937
xref: MIM:603813 "phenotype"
[Term]
id: DI-01243
name: Hypophosphatemic rickets, autosomal recessive, 1
def: "A hereditary form of hypophosphatemic rickets, a disorder of proximal renal tubule function that causes phosphate loss, hypophosphatemia and skeletal deformities, including rickets and osteomalacia unresponsive to vitamin D. Symptoms are bone pain, fractures and growth abnormalities." []
synonym: "ARHP" [UniProt]
synonym: "Hypophosphatemia autosomal recessive" [UniProt]
xref: MedGen:C0342643
xref: MeSH:D012279
xref: MIM:241520 "phenotype"
[Term]
id: DI-01244
name: Ectopia lentis 2, isolated, autosomal recessive
def: "An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation." []
xref: MedGen:C2673634
xref: MeSH:D004479
xref: MIM:225100 "phenotype"
[Term]
id: DI-01245
name: Intellectual developmental disorder, autosomal recessive 6
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT6 patients display mild to severe intellectual disability and psychomotor development delay in early childhood. Patients do not have neurologic problems, congenital malformations, or facial dysmorphism. Body height, weight, and head circumference are normal." []
xref: MedGen:C1970198
xref: MeSH:D008607
xref: MIM:611092 "phenotype"
[Term]
id: DI-01246
name: Myosclerosis autosomal recessive
def: "A condition characterized by chronic inflammation of skeletal muscle with hyperplasia of the interstitial connective tissue. The clinical picture includes slender muscles with firm 'woody' consistency and restriction of movement of many joints because of muscle contractures." []
synonym: "Congenital myosclerosis of Lowenthal" [UniProt]
synonym: "Myosclerotic myopathy" [UniProt]
xref: MedGen:C1850671
xref: MeSH:D003095
xref: MeSH:D003286
xref: MIM:255600 "phenotype"
[Term]
id: DI-01247
name: Myotonia congenita, autosomal recessive
def: "A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal recessive form (Becker disease) is more severe than the autosomal dominant one (Thomsen disease)." []
synonym: "Becker disease" [UniProt]
synonym: "Generalized myotonia" [UniProt]
xref: MedGen:C0751360
xref: MeSH:D009224
xref: MIM:255700 "phenotype"
[Term]
id: DI-01249
name: Agammaglobulinemia 1, autosomal recessive
def: "A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life." []
synonym: "Agammaglobulinemia autosomal recessive due to IGHM defect" [UniProt]
xref: MedGen:C1832241
xref: MedGen:C3152144
xref: MeSH:D000361
xref: MIM:601495 "phenotype"
[Term]
id: DI-01251
name: Oculodentodigital dysplasia, autosomal recessive
def: "A disease characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding. Cardiac abnormalities are observed in rare instances." []
synonym: "Autosomal recessive oculodentoosseous dysplasia" [UniProt]
synonym: "Autosomal recessive ODD syndrome" [UniProt]
synonym: "Autosomal recessive ODDD" [UniProt]
synonym: "Autosomal recessive ODOD" [UniProt]
xref: MedGen:C2749477
xref: MeSH:D008850
xref: MeSH:D013576
xref: MeSH:D014071
xref: MIM:257850 "phenotype"
[Term]
id: DI-01252
name: Osteopetrosis, autosomal recessive 3
def: "A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB3 is associated with renal tubular acidosis, cerebral calcification (marble brain disease) and in some cases with intellectual disability." []
synonym: "Carbonic anhydrase II deficiency syndrome" [UniProt]
synonym: "Guibaud-Vainsel syndrome" [UniProt]
synonym: "Marble brain disease" [UniProt]
synonym: "Osteopetrosis with renal tubular acidosis" [UniProt]
xref: MedGen:C0345407
xref: MeSH:D000141
xref: MeSH:D010022
xref: MIM:259730 "phenotype"
[Term]
id: DI-01253
name: Osteopetrosis, autosomal recessive 6
def: "A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves." []
synonym: "Autosomal recessive osteopetrosis intermediate form" [UniProt]
xref: MedGen:C1969093
xref: MeSH:D010022
xref: MIM:611497 "phenotype"
[Term]
id: DI-01254
name: Otospondylomegaepiphyseal dysplasia, autosomal recessive
def: "An autosomal recessive form of otospondylomegaepiphyseal dysplasia, a disorder characterized by sensorineural deafness, enlarged epiphyses, mild platyspondyly, and disproportionate shortness of the limbs. Total body length is normal. Typical facial features are mid-face hypoplasia, short upturned nose and depressed nasal bridge. Most patients have Pierre Robin sequence including an opening in the roof of the mouth (cleft palate) and a small lower jaw (micrognathia). Ocular symptoms are absent. Some patients have early-onset osteoarthritis." []
synonym: "Chondrodystrophy with sensorineural deafness" [UniProt]
synonym: "Insley-Astley syndrome" [UniProt]
synonym: "Nance-Insley syndrome" [UniProt]
synonym: "Nance-Sweeney chondrodysplasia" [UniProt]
synonym: "OSMED" [UniProt]
xref: MedGen:C0432210
xref: MedGen:C1855310
xref: MeSH:D010009
xref: MIM:215150 "phenotype"
[Term]
id: DI-01255
name: Pseudohypoaldosteronism 1B1, autosomal recessive
def: "A form of pseudohypoaldosteronism type 1, a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. The disorder affects multiple organs, and is characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss." []
synonym: "Multisystem pseudohypoaldosteronism" [UniProt]
synonym: "PHA type I, autosomal recessive" [UniProt]
synonym: "Pseudohypoaldosteronism type I, autosomal recessive" [UniProt]
xref: MedGen:C1449843
xref: MeSH:D011546
xref: MIM:264350 "phenotype"
[Term]
id: DI-01256
name: Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive
def: "A disease characterized by spastic paraplegia and progressive distal sensory neuropathy leading to mutilating ulcerations of the upper and lower limbs." []
xref: MedGen:C1850395
xref: MeSH:D015419
xref: MIM:256840 "phenotype"
[Term]
id: DI-01257
name: Neutropenia, severe congenital 3, autosomal recessive
def: "A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. Some patients affected by severe congenital neutropenia type 3 have neurological manifestations such as psychomotor retardation and seizures." []
synonym: "Agranulocytosis infantile" [UniProt]
synonym: "Kostmann disease" [UniProt]
xref: MedGen:C1853118
xref: MeSH:D009503
xref: MIM:610738 "phenotype"
[Term]
id: DI-01258
name: Neutropenia, severe congenital 4, autosomal recessive
def: "A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections." []
xref: MedGen:C2675526
xref: MeSH:D009503
xref: MIM:612541 "phenotype"
[Term]
id: DI-01259
name: Spastic ataxia Charlevoix-Saguenay type
def: "A neurodegenerative disease characterized by early-onset cerebellar ataxia, spasticity, retinal hypermyelination, pyramidal signs, and both axonal and demyelinating neuropathy with loss of sensory nerve conduction and reduced motor conduction velocities. Other features include dysarthria, distal muscle wasting, nystagmus, defect in conjugate pursuit ocular movements, retinal striation (from prominent retinal nerves) obscuring the retinal blood vessels in places, and the frequent presence of mitral valve prolapse." []
synonym: "ARSACS" [UniProt]
synonym: "Autosomal recessive spastic ataxia of Charlevoix-Saguenay" [UniProt]
synonym: "Spastic ataxia 6, autosomal recessive" [UniProt]
synonym: "SPAX6" [UniProt]
xref: MedGen:C1849140
xref: MeSH:D002524
xref: MIM:270550 "phenotype"
[Term]
id: DI-01260
name: Nephrotic syndrome 2
def: "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades. Some patients show later onset of the disorder." []
synonym: "Autosomal recessive steroid-resistant nephrotic syndrome" [UniProt]
synonym: "SRN" [UniProt]
synonym: "SRN1" [UniProt]
xref: MedGen:C1868672
xref: MeSH:D009404
xref: MIM:600995 "phenotype"
[Term]
id: DI-01261
name: Cerebral palsy, spastic quadriplegic 1
def: "A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest symmetrical, non-progressive spasticity and no adverse perinatal history or obvious underlying alternative diagnosis. Developmental delay, intellectual disability and sometimes epilepsy can be part of the clinical picture." []
synonym: "Autosomal recessive symmetric spastic cerebral palsy 1" [UniProt]
xref: MedGen:C1863793
xref: MedGen:C2751938
xref: MeSH:D002547
xref: MIM:603513 "phenotype"
[Term]
id: DI-01262
name: Tetraamelia syndrome 1
def: "A form of tetraamelia, a rare disease characterized by rudimentary appendages or complete absence of all four limbs, and other anomalies such as craniofacial, nervous system, pulmonary, skeletal and urogenital defects. TETAMS1 patients manifest complete limb agenesis without defects of scapulae or clavicles. Other features include bilateral cleft lip/palate, diaphragmatic defect with bilobar right lung, renal and adrenal agenesis, pelvic hypoplasia, and urogenital defects. TETAMS1 transmission pattern is consistent with autosomal recessive inheritance." []
synonym: "Autosomal recessive tetra-amelia" [UniProt]
synonym: "Tetraamelia syndrome, autosomal recessive" [UniProt]
xref: MedGen:C4012268
xref: MeSH:D004480
xref: MIM:273395 "phenotype"
[Term]
id: DI-01263
name: Woolly hair autosomal recessive 1 with or without hypotrichosis
def: "A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. Some individuals exhibit features of hypotrichosis." []
xref: MedGen:C3279470
xref: MeSH:D006201
xref: MIM:278150 "phenotype"
[Term]
id: DI-01264
name: Corneal dystrophy, Avellino type
def: "A corneal disease resulting in reduced visual acuity and characterized by gray, crumb-like granular deposits in the anterior third of the stroma in each corneal button. Fusiform amyloid deposits, histochemically and morphologically identical to those of lattice corneal dystrophy, are found in the deeper stroma. Additional features include recurrent corneal erosions, and glare and decreased night vision." []
synonym: "ACD" [UniProt]
synonym: "Avellino corneal dystrophy" [UniProt]
synonym: "CGD2" [UniProt]
synonym: "Combined granular-lattice corneal dystrophy" [UniProt]
synonym: "Granular corneal dystrophy type II" [UniProt]
xref: MedGen:C1275685
xref: MeSH:D003317
xref: MeSH:D028226
xref: MIM:607541 "phenotype"
[Term]
id: DI-01265
name: Axenfeld-Rieger syndrome 1
def: "An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Additional features include aniridia, maxillary hypoplasia, hypodontia, anal stenosis, redundant periumbilical skin." []
synonym: "Iridogoniodysgenesis with somatic anomalies" [UniProt]
synonym: "RGS" [UniProt]
synonym: "RIEG" [UniProt]
synonym: "Rieger syndrome type 1" [UniProt]
xref: MedGen:C3495488
xref: MedGen:CN029264
xref: MeSH:D005124
xref: MIM:180500 "phenotype"
[Term]
id: DI-01266
name: Axenfeld-Rieger syndrome 3
def: "An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Features include posterior corneal embryotoxon, prominent Schwalbe line and iris adhesion to the Schwalbe line, hypertelorism, hypodontia, sensorineural deafness, redundant periumbilical skin, and cardiovascular defects such as patent ductus arteriosus and atrial septal defect. When associated with tooth anomalies, the disorder is known as Rieger syndrome." []
synonym: "Anterior chamber cleavage syndrome" [UniProt]
synonym: "Anterior segment mesenchymal dysgenesis" [UniProt]
synonym: "Axenfeld anomaly" [UniProt]
synonym: "Axenfeld-Rieger anomaly" [UniProt]
synonym: "Axenfeld-Rieger anomaly with cardiac defects and/or sensorineural hearing loss" [UniProt]
synonym: "Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss" [UniProt]
synonym: "Rieger anomaly" [UniProt]
synonym: "Rieger syndrome type 3" [UniProt]
xref: MedGen:C0266548
xref: MedGen:C2676985
xref: MedGen:C2678503
xref: MeSH:D005124
xref: MeSH:D006319
xref: MeSH:D006330
xref: MIM:602482 "phenotype"
[Term]
id: DI-01267
name: Bamforth-Lazarus syndrome
def: "An autosomal recessive disease characterized by congenital hypothyroidism due to thyroid agenesis or thyroid hypoplasia, cleft palate, spiky hair, with or without choanal atresia, and bifid epiglottis." []
synonym: "Athyroidal hypothyroidism with spiky hair and cleft palate" [UniProt]
xref: MedGen:C1855794
xref: MedGen:C1968699
xref: MeSH:D002972
xref: MeSH:D006201
xref: MeSH:D007037
xref: MIM:241850 "phenotype"
[Term]
id: DI-01269
name: Bardet-Biedl syndrome 12
def: "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease." []
xref: MedGen:C1859570
xref: MeSH:D020788
xref: MIM:615989 "phenotype"
[Term]
id: DI-01270
name: Beare-Stevenson cutis gyrata syndrome
def: "An autosomal dominant disease characterized by craniofacial anomalies, particularly craniosynostosis, and ear defects, cutis gyrata, acanthosis nigricans, anogenital anomalies, skin tags, and prominent umbilical stump. The skin furrows have a corrugated appearance and are widespread. Cutis gyrata variably affects the scalp, forehead, face, preauricular area, neck, trunk, hands, and feet." []
synonym: "Beare-Stevenson syndrome" [UniProt]
synonym: "Cutis gyrata syndrome of Beare and Stevenson" [UniProt]
xref: MedGen:C1852406
xref: MeSH:D000052
xref: MeSH:D003398
xref: MeSH:D012868
xref: MIM:123790 "phenotype"
[Term]
id: DI-01271
name: Hematuria, benign familial, 1
def: "An autosomal dominant condition characterized by non-progressive isolated microscopic hematuria that does not result in renal failure. It is characterized pathologically by thinning of the glomerular basement membrane." []
synonym: "Thin basement membrane nephropathy" [UniProt]
synonym: "Thin membrane nephropathy" [UniProt]
synonym: "TMN" [UniProt]
xref: MedGen:C0241908
xref: MedGen:C0403440
xref: MeSH:D006417
xref: MIM:141200 "phenotype"
[Term]
id: DI-01272
name: Chorea, hereditary benign
def: "A rare autosomal dominant movement disorder, defined by early onset in childhood, a stable or non-progressive course of chorea, and no mental deterioration. Chorea is characterized by involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement." []
synonym: "Hereditary chorea without dementia" [UniProt]
xref: MedGen:C0393584
xref: MeSH:D002819
xref: MIM:118700 "phenotype"
[Term]
id: DI-01273
name: Bernard-Soulier syndrome A2, autosomal dominant
def: "A coagulation disorder characterized by mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet volume. Some individuals have no symptoms. Mild bleeding tendencies manifest as epistaxis, gingival bleeding, menorrhagia, easy bruising, or prolonged bleeding after dental surgery." []
synonym: "Autosomal dominant benign Bernard-Soulier syndrome" [UniProt]
synonym: "Benign mediterranean macrothrombocytopenia" [UniProt]
xref: MedGen:C2750610
xref: MedGen:C3277076
xref: MeSH:D001606
xref: MIM:153670 "phenotype"
[Term]
id: DI-01274
name: Bernard-Soulier syndrome
def: "A coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption." []
synonym: "BDPLT1" [UniProt]
synonym: "Bernard-Soulier syndrome type A1" [UniProt]
synonym: "Bernard-Soulier syndrome type B" [UniProt]
synonym: "Bernard-Soulier syndrome type C" [UniProt]
synonym: "Bleeding disorder platelet-type 1" [UniProt]
synonym: "Giant platelet disease" [UniProt]
synonym: "GPD" [UniProt]
synonym: "Platelet glycoprotein Ib deficiency" [UniProt]
synonym: "Von Willebrand factor receptor deficiency" [UniProt]
xref: MedGen:C0005129
xref: MedGen:C1856447
xref: MedGen:C1856448
xref: MedGen:C2713537
xref: MedGen:C3278148
xref: MeSH:D001606
xref: MIM:231200 "phenotype"
[Term]
id: DI-01275
name: Beta-thalassemia
def: "A form of thalassemia. Thalassemias are common monogenic diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of beta-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. Absence of beta chain causes beta(0)-thalassemia, while reduced amounts of detectable beta globin causes beta(+)-thalassemia. In the severe forms of beta-thalassemia, the excess alpha globin chains accumulate in the developing erythroid precursors in the marrow. Their deposition leads to a vast increase in erythroid apoptosis that in turn causes ineffective erythropoiesis and severe microcytic hypochromic anemia. Clinically, beta-thalassemia is divided into thalassemia major which is transfusion dependent, thalassemia intermedia (of intermediate severity), and thalassemia minor that is asymptomatic." []
synonym: "Beta thalassemia" [UniProt]
synonym: "Cooley's anemia" [UniProt]
synonym: "Erythroblastic anemia" [UniProt]
synonym: "Mediterranean anemia" [UniProt]
synonym: "Thalassemia major" [UniProt]
synonym: "Thalassemia minor" [UniProt]
xref: MedGen:C0005283
xref: MedGen:C0472767
xref: MedGen:C0599528
xref: MedGen:C0869532
xref: MeSH:D017086
xref: MIM:613985 "phenotype"
[Term]
id: DI-01276
name: Beta-ureidopropionase deficiency
def: "An inborn error of metabolism due to a defect in pyrimidine degradation. It is characterized by muscular hypotonia, dystonic movements, scoliosis, microcephaly and severe developmental delay. Patients show strongly elevated levels of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid in plasma, cerebrospinal fluid and urine." []
xref: MedGen:C1291512
xref: MeSH:D011686
xref: MIM:613161 "phenotype"
[Term]
id: DI-01277
name: Hyperphenylalaninemia, BH4-deficient, A
def: "An autosomal recessive disorder characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits. Neurological symptoms are unresponsive to the classic phenylalanine-low diet." []
synonym: "6-pyruvoyl-tetrahydropterin synthase deficiency" [UniProt]
synonym: "Hyperphenylalaninemia tetrahydrobiopterin-deficient due to PTS deficiency" [UniProt]
synonym: "PTPSD" [UniProt]
synonym: "PTS deficiency" [UniProt]
synonym: "PTSD" [UniProt]
xref: MedGen:C0878676
xref: MedGen:C2678415
xref: MedGen:CN068421
xref: MeSH:D010661
xref: MIM:261640 "phenotype"
[Term]
id: DI-01278
name: Hyperphenylalaninemia, BH4-deficient, C
def: "Rare autosomal recessive disorder characterized by hyperphenylalaninemia and severe neurologic symptoms (malignant hyperphenylalaninemia) including axial hypotonia and truncal hypertonia, abnormal thermogenesis, and microcephaly. These signs are attributable to depletion of the neurotransmitters dopamine and serotonin, whose syntheses are controlled by tryptophan and tyrosine hydroxylases that use BH-4 as cofactor. Patients do not respond to phenylalanine-restricted diet. HPABH4C is lethal if untreated." []
synonym: "DHPR deficiency" [UniProt]
synonym: "Dihydropteridine reductase deficiency" [UniProt]
synonym: "Hyperphenylalaninemia tetrahydrobiopterin-deficient due to DHPR deficiency" [UniProt]
synonym: "QDPR deficiency" [UniProt]
synonym: "Quinoid dihydropteridine reductase deficiency" [UniProt]
xref: MedGen:C0268465
xref: MeSH:D010661
xref: MIM:261630 "phenotype"
[Term]
id: DI-01279
name: Hyperphenylalaninemia, BH4-deficient, D
def: "An autosomal recessive disease characterized by primapterinuria, a variant form of hyperphenylalaninemia defined by increased excretion of 7-substituted pterins in the urine. Patients with primapterinuria show an increased ratio of neopterin to biopterin in the urine, excretion of subnormal levels of biopterins, and normal levels of biogenic amines in cerebrospinal fluid. Neurologic signs are mild, present in the neonatal period only, and include hypotonia, delayed motor development and tremor." []
synonym: "CADH deficiency" [UniProt]
synonym: "Hyperphenylalaninemia tetrahydrobiopterin-deficient due to PHS deficiency" [UniProt]
synonym: "Hyperphenylalaninemia tetrahydrobiopterin-deficient due to pterin-4-alpha-carbinolamine dehydratase deficiency" [UniProt]
synonym: "Hyperphenylalaninemia with primapterinuria" [UniProt]
synonym: "PCBD deficiency" [UniProt]
synonym: "PHS deficiency" [UniProt]
synonym: "Pterin-4-alpha-carbinolamine dehydratase deficiency" [UniProt]
xref: MedGen:C1849700
xref: MeSH:D010661
xref: MIM:264070 "phenotype"
[Term]
id: DI-01280
name: Bietti crystalline corneoretinal dystrophy
def: "An autosomal recessive ocular disease characterized by retinal degeneration and marginal corneal dystrophy. Typical features include multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. Most patients have similar crystals at the corneoscleral limbus. Patients develop decreased vision, nyctalopia, and paracentral scotomata between the 2nd and 4th decade of life. Later, they develop peripheral visual field loss and marked visual impairment, usually progressing to legal blindness by the 5th or 6th decade of life." []
synonym: "Bietti crystalline dystrophy" [UniProt]
synonym: "Bietti tapetoretinal degeneration with marginal corneal dystrophy" [UniProt]
synonym: "Crystalline retinopathy" [UniProt]
xref: MedGen:C1859486
xref: MeSH:D003317
xref: MeSH:D012164
xref: MIM:210370 "phenotype"
[Term]
id: DI-01281
name: Cortical dysplasia, complex, with other brain malformations 14A (bilateral frontoparietal)
def: "An autosomal recessive disorder characterized by global developmental delay with impaired intellectual development, motor delay, poor speech, cerebellar and pyramidal signs, truncal ataxia, and early- onset seizures. Brain imaging shows bilateral frontoparietal polymicrogyria, a malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. Polymicrogyria is considered to be the result of postmigratory abnormal cortical organization." []
synonym: "BFPP" [UniProt]
synonym: "Cerebellar ataxia with neuronal migration defect" [UniProt]
synonym: "Polymicrogyria, bilateral frontoparietal" [UniProt]
xref: MedGen:C1847352
xref: MeSH:D054220
xref: MIM:606854 "phenotype"
[Term]
id: DI-01282
name: Bilateral optic nerve hypoplasia
def: "A congenital anomaly in which the optic disk appears abnormally small. It may be an isolated finding or part of a spectrum of anatomic and functional abnormalities that includes partial or complete agenesis of the septum pellucidum, other midline brain defects, cerebral anomalies, pituitary dysfunction, and structural abnormalities of the pituitary." []
synonym: "Bilateral optic nerve aplasia" [UniProt]
xref: MedGen:C1833797
xref: MedGen:C1833798
xref: MeSH:D000013
xref: MIM:165550 "phenotype"
[Term]
id: DI-01284
name: Basal ganglia disease, biotin-thiamine responsive
def: "An autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia." []
synonym: "BBGD" [UniProt]
synonym: "Biotin-responsive basal ganglia disease" [UniProt]
synonym: "BTBGD" [UniProt]
synonym: "Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type" [UniProt]
synonym: "Thiamine-responsive encephalopathy" [UniProt]
synonym: "THMD2" [UniProt]
xref: MedGen:C1843807
xref: MeSH:D001480
xref: MIM:607483 "phenotype"
[Term]
id: DI-01285
name: Bjoernstad syndrome
def: "An autosomal recessive disease characterized by congenital sensorineural hearing loss and twisted hairs (pili torti). Pili torti is a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair extremely brittle." []
synonym: "Bjornstad syndrome" [UniProt]
synonym: "Pili torti and nerve deafness" [UniProt]
synonym: "PTD" [UniProt]
xref: MedGen:C0266006
xref: MeSH:D006201
xref: MeSH:D006319
xref: MIM:262000 "phenotype"
[Term]
id: DI-01286
name: Blau syndrome
def: "An autosomal dominant inflammatory disorder characterized by the formation of immune granulomas invading the skin, joints and eye. Other organs may be involved. Clinical manifestations are variable and include early-onset granulomatous arthritis, uveitis and skin rash. Blindness, joint destruction and visceral involvement have been reported in severe cases." []
synonym: "ACUG" [UniProt]
synonym: "Arthrocutaneouveal granulomatosis" [UniProt]
synonym: "EOS" [UniProt]
synonym: "Familial granulomatosis blau type" [UniProt]
synonym: "Familial granulomatous inflammatory arthritis dermatitis and uveitis" [UniProt]
synonym: "Familial juvenile systemic granulomatosis" [UniProt]
synonym: "Jabs syndrome" [UniProt]
synonym: "Sarcoidosis, early-onset" [UniProt]
xref: MedGen:C1861303
xref: MeSH:D007592
xref: MeSH:D014605
xref: MIM:186580 "phenotype"
[Term]
id: DI-01287
name: Blepharophimosis, ptosis, and epicanthus inversus syndrome
def: "A disorder characterized by eyelid dysplasia, small palpebral fissures, drooping eyelids and a skin fold curving in the mediolateral direction, inferior to the inner canthus. In type I BPSE (BPES1) eyelid abnormalities are associated with female infertility. Affected females show an ovarian deficit due to primary amenorrhea or to premature ovarian failure (POF). In type II BPSE (BPES2) affected individuals show only the eyelid defects." []
synonym: "Autosomal dominant BPES type I" [UniProt]
synonym: "Autosomal recessive BPES type I" [UniProt]
synonym: "Blepharophimosis syndrome" [UniProt]
synonym: "BPES type I" [UniProt]
synonym: "BPES type II" [UniProt]
synonym: "BPES with Duane retraction syndrome" [UniProt]
synonym: "BPES with ovarian failure" [UniProt]
synonym: "BPES without ovarian failure" [UniProt]
xref: MedGen:C0220663
xref: MedGen:C1862260
xref: MedGen:C1862261
xref: MedGen:C1862262
xref: MedGen:C1862263
xref: MedGen:C1862264
xref: MedGen:C1970106
xref: MeSH:D012868
xref: MeSH:D016569
xref: MIM:110100 "phenotype"
[Term]
id: DI-01289
name: Boomerang dysplasia
def: "A perinatal lethal osteochondrodysplasia characterized by absence or underossification of the limb bones and vertebrae. Patients manifest dwarfism with short, bowed, rigid limbs and characteristic facies. Boomerang dysplasia is distinguished from atelosteogenesis on the basis of a more severe defect in mineralization, with complete absence of ossification in some limb elements and vertebral segments." []
xref: MedGen:C0432201
xref: MeSH:D010009
xref: MIM:112310 "phenotype"
[Term]
id: DI-01290
name: Bosley-Salih-Alorainy syndrome
def: "A disease characterized by horizontal gaze abnormalities, deafness, facial weakness, vascular malformations of the internal carotid arteries and cardiac outflow trac. Some patients manifest intellectual disability and autism spectrum disorder. Affected individuals do not suffer from central hypoventilation." []
xref: MedGen:C1832216
xref: MeSH:D006319
xref: MeSH:D009421
xref: MIM:601536 "phenotype"
[Term]
id: DI-01291
name: Brachydactyly-syndactyly syndrome
def: "A disease characterized by generalized shortening of the hands and feet, broad and short distal phalanges of the thumbs, and cutaneous syndactyly of toes 2 and 3. The limb phenotypes observed in this syndrome overlap those of brachydactyly types A4, D, E and syndactyly type 1." []
xref: MedGen:C1853137
xref: MeSH:D013576
xref: MeSH:D059327
xref: MIM:610713 "phenotype"
[Term]
id: DI-01292
name: Brachyolmia 3
def: "A form of brachyolmia, a clinically and genetically heterogeneous skeletal dysplasia primarily affecting the spine and characterized by a short trunk, short stature, and platyspondyly. BCYM3 is an autosomal dominant form with severe scoliosis with or without kyphosis, and flattened irregular cervical vertebrae." []
synonym: "Autosomal dominant brachyolmia" [UniProt]
synonym: "Brachyrachia" [UniProt]
xref: MedGen:C0432227
xref: MeSH:D010009
xref: MIM:113500 "phenotype"
[Term]
id: DI-01294
name: Branchiooculofacial syndrome
def: "A syndrome characterized by growth retardation, bilateral branchial sinus defects with hemangiomatous, scarred skin, cleft lip with or without cleft palate, pseudocleft of the upper lip, nasolacrimal duct obstruction, low set ears with posterior rotation, a malformed, asymmetrical nose with a broad bridge and flattened tip, conductive or sensorineural deafness, ocular and renal anomalies." []
synonym: "BOF syndrome" [UniProt]
synonym: "Branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging" [UniProt]
synonym: "Branchio-oculo-facial syndrome" [UniProt]
synonym: "Hemangiomatous branchial clefts-lip pseudocleft syndrome" [UniProt]
synonym: "Lip pseudocleft-hemangiomatous branchial cyst syndrome" [UniProt]
xref: MedGen:C0376524
xref: MeSH:D019280
xref: MIM:113620 "phenotype"
[Term]
id: DI-01295
name: Branchiootic syndrome 1
def: "A syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies overlap with those seen in individuals with the branchiootorenal syndrome. However renal anomalies are absent in branchiootic syndrome patients." []
synonym: "BO syndrome 1" [UniProt]
synonym: "Branchio-otic dysplasia 1" [UniProt]
synonym: "Branchio-otic syndrome 1" [UniProt]
xref: MedGen:C1865143
xref: MeSH:D003638
xref: MIM:602588 "phenotype"
[Term]
id: DI-01296
name: Branchiootic syndrome 3
def: "A syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies overlap with those seen in individuals with the branchiootorenal syndrome. However renal anomalies are absent in branchiootic syndrome patients." []
synonym: "BO syndrome 3" [UniProt]
synonym: "Branchio-otic dysplasia 3" [UniProt]
synonym: "Branchio-otic syndrome 3" [UniProt]
xref: MedGen:C1842124
xref: MeSH:D003638
xref: MIM:608389 "phenotype"
[Term]
id: DI-01297
name: Branchiootorenal syndrome 1
def: "A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations." []
synonym: "BOR syndrome 1" [UniProt]
synonym: "Branchio-oto-renal dysplasia 1" [UniProt]
synonym: "Branchio-oto-renal syndrome type 1" [UniProt]
synonym: "Branchiootorenal dysplasia 1" [UniProt]
synonym: "Melnick-Fraser syndrome" [UniProt]
xref: MedGen:C2936782
xref: MeSH:D019280
xref: MIM:113650 "phenotype"
[Term]
id: DI-01298
name: Branchiootorenal syndrome 2
def: "A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations." []
synonym: "BOR syndrome 2" [UniProt]
synonym: "Branchio-oto-renal dysplasia 2" [UniProt]
synonym: "Branchio-oto-renal syndrome type 2" [UniProt]
synonym: "Branchiootorenal dysplasia 2" [UniProt]
xref: MedGen:C1970479
xref: MeSH:D019280
xref: MIM:610896 "phenotype"
[Term]
id: DI-01299
name: Bruck syndrome 2
def: "An autosomal recessive disease characterized by generalized osteopenia, congenital joint contractures, fragile bones with onset of fractures in infancy or early childhood, short stature, severe limb deformity, progressive scoliosis, and pterygia. It is distinguished from osteogenesis imperfecta by the absence of hearing loss and dentinogenesis imperfecta, and by the presence of clubfoot and congenital joint limitations." []
synonym: "Osteogenesis imperfecta with congenital joint contractures" [UniProt]
xref: MedGen:C1836602
xref: MeSH:D001176
xref: MeSH:D010009
xref: MIM:609220 "phenotype"
[Term]
id: DI-01300
name: Budd-Chiari syndrome
def: "A syndrome caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava. Obstructions are generally caused by thrombosis and lead to hepatic congestion and ischemic necrosis. Clinical manifestations observed in the majority of patients include hepatomegaly, right upper quadrant pain and abdominal ascites. Budd-Chiari syndrome is associated with a combination of disease states including primary myeloproliferative syndromes and thrombophilia due to factor V Leiden, protein C deficiency and antithrombin III deficiency. Budd-Chiari syndrome is a rare but typical complication in patients with polycythemia vera." []
synonym: "Chiari syndrome" [UniProt]
synonym: "Membranous obstruction of the inferior vena cava" [UniProt]
synonym: "MOVC" [UniProt]
xref: MedGen:C0546323
xref: MedGen:C0856761
xref: MeSH:D006502
xref: MIM:600880 "phenotype"
[Term]
id: DI-01301
name: Buschke-Ollendorff syndrome
def: "A disease characterized by osteopoikilosis and disseminated connective-tissue nevi. Osteopoikilosis is a skeletal dysplasia characterized by a symmetric but unequal distribution of multiple hyperostotic areas in different parts of the skeleton. Elastic-type nevi (juvenile elastoma) and collagen-type nevi (dermatofibrosis lenticularis disseminata) have been described in BOS. Skin or bony lesions can be absent in some family members, whereas other relatives may have both." []
synonym: "Dermatofibrosis lenticularis disseminata with osteopoikilosis" [UniProt]
synonym: "Dermatoosteopoikilosis" [UniProt]
synonym: "Disseminated dermatofibrosis with osteopoikilosis" [UniProt]
synonym: "Osteopathia condensans disseminata" [UniProt]
xref: MedGen:C0265514
xref: MedGen:C1833699
xref: MedGen:C3149695
xref: MeSH:D010023
xref: MeSH:D012873
xref: MIM:166700 "phenotype"
[Term]
id: DI-01302
name: Butyrylcholinesterase deficiency
def: "An autosomal recessive metabolic condition characterized by increased sensitivity to certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium. BCHED results in slower hydrolysis of these drugs and, consequently, a prolonged neuromuscular block, leading to apnea. The duration of the prolonged apnea varies significantly depending on the extent of the enzyme deficiency." []
synonym: "Acholinesterasemia" [UniProt]
synonym: "Fluoride-resistant butyrylcholinesterase deficiency Japanese type" [UniProt]
synonym: "Fluoride-resistant hypocholinesterasemia Japanese type" [UniProt]
synonym: "Postanesthetic apnea" [UniProt]
synonym: "Pseudocholinesterase deficiency" [UniProt]
synonym: "Suxamethonium sensitivity" [UniProt]
xref: MedGen:C0268379
xref: MedGen:C1283400
xref: MedGen:C1622434
xref: MedGen:C1867467
xref: MedGen:C1867468
xref: MedGen:C1867469
xref: MedGen:C1867470
xref: MeSH:D008661
xref: MIM:617936 "phenotype"
[Term]
id: DI-01303
name: C syndrome
def: "A syndrome characterized by trigonocephaly, severe intellectual disability, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears." []
synonym: "Opitz trigonocephaly syndrome" [UniProt]
synonym: "Trigonocephaly syndrome" [UniProt]
xref: MedGen:C0796095
xref: MeSH:D003398
xref: MIM:211750 "phenotype"
[Term]
id: DI-01304
name: Bohring-Opitz syndrome
def: "A syndrome characterized by severe intrauterine growth retardation, poor feeding, profound intellectual disability, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints." []
synonym: "Bohring syndrome" [UniProt]
synonym: "C-like syndrome" [UniProt]
synonym: "Opitz trigonocephaly-like syndrome" [UniProt]
xref: MedGen:C0796232
xref: MeSH:D003398
xref: MIM:605039 "phenotype"
[Term]
id: DI-01305
name: C1q deficiency 1
def: "An autosomal recessive disorder caused by impaired activation of the complement classical pathway. It generally leads to severe immune complex disease characterized by recurrent skin lesions, chronic infections, an increased risk of systemic lupus erythematosus, and glomerulonephritis." []
synonym: "Complement component C1q deficiency" [UniProt]
xref: MedGen:C3150902
xref: MeSH:D007105
xref: MIM:613652 "phenotype"
[Term]
id: DI-01306
name: Complement component 2 deficiency
def: "A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus erythematosus. Skin and joint manifestations are common and renal disease is relatively rare. Patients with complement component 2 deficiency are also reported to have recurrent invasive infections." []
synonym: "C2 deficiency" [UniProt]
xref: MedGen:C3150275
xref: MeSH:D007105
xref: MIM:217000 "phenotype"
[Term]
id: DI-01307
name: Complement component 3 deficiency
def: "A rare defect of the complement classical pathway. Patients develop recurrent, severe, pyogenic infections because of ineffective opsonization of pathogens. Some patients may also develop autoimmune disorders, such as arthralgia and vasculitic rashes, lupus-like syndrome and membranoproliferative glomerulonephritis." []
synonym: "C3 deficiency autosomal recessive" [UniProt]
synonym: "Complement component 3 deficiency autosomal recessive" [UniProt]
xref: MedGen:C3151071
xref: MeSH:D007154
xref: MIM:613779 "phenotype"
[Term]
id: DI-01308
name: Complement component 4A deficiency
def: "A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus with or without associated glomerulonephritis." []
synonym: "C4A deficiency" [UniProt]
xref: MedGen:C3280642
xref: MeSH:D007105
xref: MIM:614380 "phenotype"
[Term]
id: DI-01309
name: Intellectual developmental disorder, X-linked, syndromic, Cabezas type
def: "A syndromic form of X-linked intellectual disability characterized by severe intellectual deficit associated with short stature, craniofacial dysmorphism, small testes, muscle wasting in lower legs, kyphosis, joint hyperextensibility, pes cavus, small feet, and abnormalities of the toes. Additional neurologic manifestations include speech delay and impairment, tremor, seizures, gait ataxia, hyperactivity and decreased attention span." []
synonym: "Cabezas syndrome" [UniProt]
synonym: "Intellectual deficit, X-linked, Cabezas type" [UniProt]
synonym: "MRSS" [UniProt]
synonym: "MRXHF2" [UniProt]
synonym: "MRXS15" [UniProt]
xref: MedGen:C1845861
xref: MeSH:D038901
xref: MIM:300354 "phenotype"
[Term]
id: DI-01310
name: Caffey disease
def: "An autosomal dominant disorder characterized by an infantile episode of massive subperiosteal new bone formation that typically involves the diaphyses of the long bones, mandible, and clavicles. The involved bones may also appear inflamed, with painful swelling and systemic fever often accompanying the illness. The bone changes usually begin before 5 months of age and resolve before 2 years of age." []
synonym: "Infantile cortical hyperostosis" [UniProt]
xref: MedGen:C0020497
xref: MedGen:C1861980
xref: MeSH:D006958
xref: MIM:114000 "phenotype"
[Term]
id: DI-01311
name: Campomelic dysplasia
def: "A rare, often lethal, osteochondrodysplasia characterized by congenital bowing and angulation of long bones. Other skeletal defects include unusually small scapula, deformed pelvis and spine, and a missing pair of ribs. Craniofacial and ear defects are common. Most patients die soon after birth due to respiratory distress which has been attributed to hypoplasia of the tracheobronchial cartilage and small thoracic cage. Up to two-thirds of affected XY individuals have genital defects or may develop as phenotypic females." []
synonym: "Acampomelic campomelic dysplasia" [UniProt]
synonym: "Acampomelic campomelic dysplasia with autosomal sex reversal" [UniProt]
synonym: "Campomelic dysplasia with autosomal sex reversal" [UniProt]
synonym: "Camptomelic dysplasia" [UniProt]
synonym: "CMPD" [UniProt]
synonym: "CMPD1" [UniProt]
synonym: "CMPD1/SRA1" [UniProt]
xref: MedGen:C1842462
xref: MedGen:C1861922
xref: MedGen:C1861923
xref: MedGen:C3549544
xref: MeSH:D055036
xref: MIM:114290 "phenotype"
[Term]
id: DI-01312
name: Camptodactyly, tall stature, and hearing loss syndrome
def: "An autosomal dominant syndrome characterized by permanent and irreducible flexion of one or more fingers of the hand and/or feet, tall stature, scoliosis and/or a pectus excavatum, and hearing loss. Affected individuals have developmental delay and/or intellectual disability, and several of these have microcephaly. Radiographic findings included tall vertebral bodies with irregular borders and broad femoral metaphyses with long tubular shafts. On audiological exam, each tested member have bilateral sensorineural hearing loss and absent otoacoustic emissions. The hearing loss was congenital or developed in early infancy, progressed variably in early childhood, and range from mild to severe. Computed tomography and magnetic resonance imaging reveal that the brain, middle ear, and inner ear are structurally normal." []
synonym: "CATSHL syndrome" [UniProt]
xref: MedGen:C1864852
xref: MeSH:D001848
xref: MeSH:D006228
xref: MeSH:D034381
xref: MIM:610474 "phenotype"
[Term]
id: DI-01313
name: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
def: "An autosomal recessive disorder characterized by the association of congenital or early-onset camptodactyly and non-inflammatory arthropathy with synovial hyperplasia. Individuals with CACP have normal appearing joints at birth but with advancing age develop joint failure, non-inflammatory synoviocyte hyperplasia and subintimal fibrosis of the synovial capsule. Some patients also manifest progressive coxa vara deformity and/or non-inflammatory pericardial or pleural effusions." []
synonym: "Arthropathy-camptodactyly syndrome" [UniProt]
synonym: "Camptodactyly-arthropathy-pericarditis syndrome" [UniProt]
synonym: "CAP syndrome" [UniProt]
synonym: "Fibrosing serositis, familial" [UniProt]
synonym: "Hypertrophic synovitis, congenital familial" [UniProt]
synonym: "Jacobs syndrome" [UniProt]
synonym: "PAC syndrome" [UniProt]
synonym: "Pericarditis-arthropathy-camptodactyly syndrome" [UniProt]
xref: MedGen:C1859690
xref: MeSH:D001177
xref: MeSH:D006228
xref: MeSH:D013585
xref: MeSH:D060905
xref: MIM:208250 "phenotype"
[Term]
id: DI-01314
name: Camurati-Engelmann disease
def: "An autosomal dominant disorder characterized by hyperostosis and sclerosis of the diaphyses of long bones. The disease typically presents in early childhood with pain, muscular weakness and waddling gait, and in some cases other features such as exophthalmos, facial paralysis, hearing difficulties and loss of vision." []
synonym: "CED" [UniProt]
synonym: "Diaphyseal dysplasia 1, progressive" [UniProt]
synonym: "DPD1" [UniProt]
synonym: "Engelmann disease" [UniProt]
synonym: "PDD" [UniProt]
synonym: "Progressive diaphyseal dysplasia" [UniProt]
xref: MedGen:C0011989
xref: MedGen:C2931842
xref: MeSH:D003966
xref: MIM:131300 "phenotype"
[Term]
id: DI-01315
name: Capillary malformation-arteriovenous malformation 1
def: "A disorder characterized by atypical capillary malformations that are multiple, small, round to oval in shape and pinkish red in color. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome. CMAVM1 inheritance is autosomal dominant." []
xref: MedGen:C1842180
xref: MedGen:C2675370
xref: MeSH:D054079
xref: MIM:608354 "phenotype"
[Term]
id: DI-01316
name: Carboxypeptidase N deficiency
def: "Patients affected present some combination of angioedema or chronic urticaria, as well as hay fever or asthma, and have also slightly depressed serum carboxy peptidase N, suggestive of autosomal recessive inheritance of this disorder." []
xref: MedGen:C0398782
xref: MIM:212070 "phenotype"
[Term]
id: DI-01317
name: Ehlers-Danlos syndrome, cardiac valvular type
def: "A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSCV is an autosomal recessive disease characterized by mitral valve prolapse and insufficiency, mitral regurgitation, and aortic insufficiency, in addition to joint laxity, skin hyperextensibility and friability, and abnormal scar formation." []
synonym: "Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form" [UniProt]
xref: MedGen:C1857034
xref: MeSH:D004535
xref: MIM:225320 "phenotype"
[Term]
id: DI-01318
name: Cardiofaciocutaneous syndrome 1
def: "A multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices." []
synonym: "Cardio-facio-cutaneous syndrome" [UniProt]
synonym: "CFC syndrome" [UniProt]
synonym: "CFCS" [UniProt]
xref: MedGen:C1275081
xref: MeSH:D004476
xref: MeSH:D006330
xref: MIM:115150 "phenotype"
[Term]
id: DI-01319
name: Carney complex 1
def: "CNC is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas." []
synonym: "CAR" [UniProt]
synonym: "Carney complex, type 1" [UniProt]
synonym: "Carney myxoma-endocrine complex" [UniProt]
synonym: "Carney syndrome" [UniProt]
synonym: "LAMB syndrome" [UniProt]
synonym: "Myxoma, spotty pigmentation, and endocrine overactivity" [UniProt]
synonym: "NAME syndrome" [UniProt]
xref: MedGen:C2607929
xref: MeSH:D056733
xref: MIM:160980 "phenotype"
[Term]
id: DI-01320
name: Carney complex variant
def: "Carney complex is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. Familial cardiac myxomas are associated with spotty pigmentation of the skin and other phenotypes, including primary pigmented nodular adrenocortical dysplasia, extracardiac (frequently cutaneous) myxomas, schwannomas, and pituitary, thyroid, testicular, bone, ovarian, and breast tumors. Cardiac myxomas do not develop in all patients with the Carney complex, but affected patients have at least two features of the complex or one feature and a clinically significant family history." []
xref: MedGen:C1837245
xref: MIM:608837 "phenotype"
[Term]
id: DI-01321
name: Carnitine palmitoyltransferase 1A deficiency
def: "Rare autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood." []
synonym: "Carnitine palmitoyltransferase I deficiency" [UniProt]
synonym: "CPT-I deficiency" [UniProt]
synonym: "CPT1A deficiency" [UniProt]
xref: MedGen:C0342789
xref: MedGen:C1829703
xref: MIM:255120 "phenotype"
[Term]
id: DI-01322
name: Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced
def: "An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are exacerbated by prolonged exercise, fasting, cold, or viral infection. CPT2DM affects most frequently children or young adults, and severity of attacks is highly variable. Myoglobinuria can cause kidney failure and death." []
synonym: "Carnitine palmitoyltransferase 2 deficiency, late-onset" [UniProt]
synonym: "Carnitine palmitoyltransferase II deficiency, adult-onset" [UniProt]
synonym: "Carnitine palmitoyltransferase II deficiency, myopathic" [UniProt]
synonym: "CPT II deficiency, myopathic" [UniProt]
synonym: "CPT2 deficiency, late-onset" [UniProt]
xref: MedGen:C1833508
xref: MeSH:D008661
xref: MIM:255110 "phenotype"
[Term]
id: DI-01323
name: Carnitine palmitoyltransferase 2 deficiency, lethal neonatal
def: "An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation with fatal outcome, presenting shortly after birth. It is characterized by respiratory distress, seizures, altered mental status, hepatomegaly, cardiomegaly, cardiac arrhythmia, and, in many cases, dysmorphic features, renal dysgenesis, and migration defects. recessive." []
synonym: "Carnitine palmitoyltransferase II deficiency, antenatal" [UniProt]
synonym: "Carnitine palmitoyltransferase II deficiency, neonatal" [UniProt]
synonym: "CPT II deficiency, lethal neonatal" [UniProt]
synonym: "CPT2 deficiency, lethal neonatal" [UniProt]
synonym: "Lethal neonatal CPT-II deficiency" [UniProt]
xref: MedGen:C1833518
xref: MeSH:D008661
xref: MIM:608836 "phenotype"
[Term]
id: DI-01324
name: Carnitine-acylcarnitine translocase deficiency
def: "A rare long-chain fatty acid oxidation disorder. Metabolic consequences include hypoketotic hypoglycemia under fasting conditions, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines. Clinical features include neurologic abnormalities, cardiomyopathy, arrhythmias, skeletal muscle damage, liver dysfunction and episodes of life-threatening coma, which eventually lead to death. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate." []
synonym: "CACT deficiency" [UniProt]
xref: MedGen:C0342791
xref: MeSH:D008052
xref: MIM:212138 "phenotype"
[Term]
id: DI-01325
name: Carpenter syndrome 1
def: "A rare autosomal recessive disorder characterized by acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; intellectual disability; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed." []
synonym: "ACPS II" [UniProt]
synonym: "ACPS2" [UniProt]
synonym: "Acrocephalopolysyndactyly 2" [UniProt]
synonym: "Acrocephalopolysyndactyly type II" [UniProt]
synonym: "Carpenter syndrome" [UniProt]
xref: MedGen:C0796281
xref: MedGen:C1275078
xref: MeSH:D000168
xref: MIM:201000 "phenotype"
[Term]
id: DI-01326
name: Caspase-8 deficiency
def: "Disorder resembling autoimmune lymphoproliferative syndrome (ALPS). It is characterized by lymphadenopathy, splenomegaly, and defective CD95- induced apoptosis of peripheral blood lymphocytes (PBLs). It leads to defects in activation of T-lymphocytes, B-lymphocytes, and natural killer cells leading to immunodeficiency characterized by recurrent sinopulmonary and herpes simplex virus infections and poor responses to immunization." []
xref: MedGen:C1846545
xref: MIM:607271 "phenotype"
[Term]
id: DI-01327
name: Cataract 47
def: "A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT47 is characterized by the association of cataract with microcornea and renal glucosuria. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. Renal glucosuria is defined by elevated glucose level in the urine without hyperglycemia and without evidence of morphological renal anomalies." []
synonym: "Cataract 47, juvenile, with microcornea" [UniProt]
synonym: "Cataract, juvenile, with microcornea" [UniProt]
synonym: "Cataract, juvenile, with microcornea and glucosuria" [UniProt]
synonym: "CJMG" [UniProt]
xref: MedGen:C2677587
xref: MeSH:D002386
xref: MeSH:D006030
xref: MIM:612018 "phenotype"
[Term]
id: DI-01329
name: Hemolytic anemia, CD59-mediated, with or without polyneuropathy
def: "An autosomal recessive disorder characterized by infantile onset of chronic hemolysis and a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifested as hypotonia, limb muscle weakness, and hyporeflexia." []
synonym: "CD59 deficiency" [UniProt]
synonym: "CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy" [UniProt]
xref: MedGen:C2676767
xref: MeSH:D000745
xref: MIM:612300 "phenotype"
[Term]
id: DI-01330
name: Choroidal dystrophy, central areolar 2
def: "A form of central areolar choroidal dystrophy, a retinal disease that affects the macula and results in a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris." []
xref: MedGen:C2751290
xref: MeSH:D012164
xref: MIM:613105 "phenotype"
[Term]
id: DI-01331
name: Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia
def: "An autosomal dominant myopathy characterized by hypotonia and proximal muscle weakness primarily affecting the lower limbs, beginning in infancy or early childhood. Some patients manifest later onset of symptoms. The clinical course of the disorder is usually slow or non- progressive in adulthood, and the severity of the symptoms is variable. Affected individuals typically show delayed motor development and usually achieve independent walking, although many have difficulty running or climbing stairs. Additional features often include mild facial weakness, joint laxity, shoulder girdle weakness, and skeletal manifestations, such as dislocation of the hips, foot deformities, scoliosis, and Achilles tendon contractures. Microscopic examination of affected skeletal muscle reveals a predominance of type I fibers containing amorphous-looking areas (cores) that do not stain with oxidative and phosphorylase histochemical techniques. Additional pathologic findings may also be observed on muscle biopsy. CMYO1A affected individuals are at risk for malignant hyperthermia, and both disorders may be present in the same family." []
synonym: "CCD" [UniProt]
synonym: "Central core disease of muscle" [UniProt]
xref: MedGen:C0751951
xref: MedGen:C1861751
xref: MedGen:C1861752
xref: MedGen:C1861753
xref: MedGen:C2674259
xref: MeSH:D020512
xref: MIM:117000 "phenotype"
[Term]
id: DI-01332
name: Precocious puberty, central 1
def: "A condition defined as the development of secondary sexual characteristics in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of puberty in the population. Central precocious puberty results from premature activation of the hypothalamic-pituitary-gonadal axis." []
xref: MedGen:C0342543
xref: MeSH:D011629
xref: MIM:176400 "phenotype"
[Term]
id: DI-01333
name: Cerebellar ataxia, cayman type
def: "Found in a population isolate on Grand Cayman Island and causes a marked psychomotor retardation and prominent nonprogressive cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait. Hypotonia is present from early childhood." []
xref: MedGen:C1832585
xref: MIM:601238 "phenotype"
[Term]
id: DI-01334
name: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1
def: "A cerebrovascular disease characterized by multiple subcortical infarcts, pseudobulbar palsy, dementia, and the presence of granular deposits in small cerebral arteries producing ischemic stroke." []
synonym: "CADASIL" [UniProt]
synonym: "CASIL" [UniProt]
synonym: "Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant" [UniProt]
synonym: "Dementia hereditary multi-infarct type" [UniProt]
synonym: "Dementia hereditary multiinfarct type" [UniProt]
xref: MedGen:C0751587
xref: MedGen:C1272305
xref: MeSH:D046589
xref: MIM:125310 "phenotype"
[Term]
id: DI-01335
name: Cerebrotendinous xanthomatosis
def: "Rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts." []
synonym: "Cerebral cholesterinosis" [UniProt]
xref: MedGen:C0238052
xref: MeSH:D019294
xref: MIM:213700 "phenotype"
[Term]
id: DI-01337
name: Charcot-Marie-Tooth disease, X-linked recessive, 5
def: "A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy." []
synonym: "Charcot-Marie-Tooth neuropathy X-linked recessive 5" [UniProt]
synonym: "Optic atrophy with polyneuropathy and deafness" [UniProt]
synonym: "Rosenberg-Chutorian syndrome" [UniProt]
xref: MedGen:C1839566
xref: MeSH:D002607
xref: MeSH:D015417
xref: MIM:311070 "phenotype"
[Term]
id: DI-01338
name: CHARGE syndrome
def: "Common cause of congenital anomalies. Is characterized by a non-random pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina." []
xref: MedGen:C0265354
xref: MIM:214800 "phenotype"
[Term]
id: DI-01339
name: Chilblain lupus 1
def: "A rare cutaneous form of lupus erythematosus. Affected individuals present with painful bluish-red papular or nodular lesions of the skin in acral locations precipitated by cold and wet exposure." []
synonym: "Chilblain lupus erythematosus" [UniProt]
synonym: "CHLE" [UniProt]
synonym: "Hutchinson lupus" [UniProt]
xref: MedGen:C0024145
xref: MedGen:C3277619
xref: MeSH:D008178
xref: MIM:610448 "phenotype"
[Term]
id: DI-01340
name: Childhood cancer retinoblastoma
def: "Congenital malignant tumor that arises from the nuclear layers of the retina. It occurs in about 1:20'000 live births and represents about 2% of childhood malignancies. It is bilateral in about 30% of cases. Although most RB appear sporadically, about 20% are transmitted as an autosomal dominant trait with incomplete penetrance. The diagnosis is usually made before the age of 2 years when strabismus or a gray to yellow reflex from pupil ('cat eye') is investigated." []
xref: MedGen:C1867262
xref: MIM:180200 "phenotype"
[Term]
id: DI-01341
name: Gallbladder disease 1
def: "One of the major digestive diseases. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations in western countries. Most people with gallstones, however, remain asymptomatic through their lifetimes." []
synonym: "Cholecystitis" [UniProt]
synonym: "Cholelithiasis" [UniProt]
synonym: "Gallstones" [UniProt]
xref: MedGen:C0008325
xref: MedGen:C0008350
xref: MedGen:C2609268
xref: MeSH:D002764
xref: MeSH:D042882
xref: MIM:600803 "phenotype"
[Term]
id: DI-01342
name: Chondrocalcinosis 2
def: "Chondrocalcinosis is a common cause of joint pain and arthritis caused by calcium deposition in articular cartilage and the presence of calcium hypophosphate crystals in synovial fluid, cartilage and periarticular soft tissue. CCAL2 inheritance is autosomal dominant." []
synonym: "Calcium gout" [UniProt]
synonym: "Calcium pyrophosphate arthropathy" [UniProt]
synonym: "Calcium pyrophosphate dihydrate deposition disease" [UniProt]
synonym: "Calcium pyrophosphate dihydrate deposition disease 2" [UniProt]
synonym: "Chondrocalcinosis, familial articular" [UniProt]
synonym: "CPPDD" [UniProt]
synonym: "CPPDD2" [UniProt]
synonym: "Familial articular chondrocalcinosis" [UniProt]
xref: MedGen:C0856830
xref: MeSH:D002805
xref: MIM:118600 "phenotype"
[Term]
id: DI-01343
name: Chondrodysplasia Blomstrand type
def: "Severe skeletal dysplasia." []
xref: MedGen:C1859148
xref: MIM:215045 "phenotype"
[Term]
id: DI-01344
name: Choreoacanthocytosis
def: "An autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology. Basal ganglia atrophy in the brain is a pathological feature of the disease. Other clinical symptoms include psychiatric features, epilepsy, peripheral neuropathy, myopathy and oral self- mutilation." []
synonym: "Acanthocytosis with neurologic disorder" [UniProt]
synonym: "Chorea-acanthocytosis" [UniProt]
synonym: "Levine-Critchley syndrome" [UniProt]
synonym: "Neuroacanthocytosis" [UniProt]
xref: MedGen:C0393576
xref: MeSH:D054546
xref: MIM:200150 "phenotype"
[Term]
id: DI-01345
name: Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction
def: "An autosomal dominant disorder that manifests in infancy with neurological disturbances, hypothyroidism, and respiratory problems. It is characterized by movement abnormalities beginning with muscular hypotonia followed by the development of chorea, athetosis, dystonia, ataxia, and dysarthria." []
synonym: "Brain-lung-thyroid syndrome" [UniProt]
synonym: "Choreoathetosis, hypothyroidism, and neonatal respiratory distress" [UniProt]
xref: MedGen:C1970269
xref: MedGen:C1970270
xref: MeSH:D001264
xref: MeSH:D002819
xref: MeSH:D003409
xref: MeSH:D012127
xref: MIM:610978 "phenotype"
[Term]
id: DI-01346
name: Papilloma of choroid plexus
def: "A benign tumor of neuroectodermal origin that generally occurs in childhood, but has also been reported in adults. Although generally found within the ventricular system, choroid plexus papillomas can arise ectopically in the brain parenchyma or disseminate throughout the neuraxis. Patients present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures." []
synonym: "Choroid plexus papilloma" [UniProt]
xref: MedGen:C0205770
xref: MedGen:C0431109
xref: MeSH:D020288
xref: MIM:260500 "phenotype"
[Term]
id: DI-01347
name: Choroideremia
def: "An X-linked recessive disease characterized by a slowly progressive degeneration of the choroid, photoreceptors, and retinal pigment epithelium. Affected males develop night blindness in their teenage years followed by loss of peripheral vision and complete blindness at middle age. Carrier females are generally asymptomatic but funduscopic examination often shows patchy areas of chorioretinal atrophy." []
synonym: "Progressive tapetochoroidal dystrophy" [UniProt]
synonym: "TCD" [UniProt]
xref: MedGen:C0008525
xref: MedGen:C0344297
xref: MeSH:D015794
xref: MIM:303100 "phenotype"
[Term]
id: DI-01348
name: Kleefstra syndrome 1
def: "A form of Kleefstra syndrome, an autosomal dominant disease characterized by variable intellectual disability, psychomotor developmental delay, seizures, behavioral abnormalities, and facial dysmorphisms. KLEFS1 patients additionally manifest brachy(micro)cephaly, congenital heart defects, and urogenital defects." []
synonym: "9q- syndrome" [UniProt]
synonym: "Chromosome 9q subtelomeric deletion syndrome" [UniProt]
synonym: "Chromosome 9q34.3 deletion syndrome" [UniProt]
xref: MedGen:C0795833
xref: MeSH:D006330
xref: MeSH:D008607
xref: MeSH:D019465
xref: MIM:610253 "phenotype"
[Term]
id: DI-01349
name: Chronic infantile neurologic cutaneous and articular syndrome
def: "Rare congenital inflammatory disorder characterized by a triad of neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation." []
synonym: "CAPS3" [UniProt]
synonym: "CINCA syndrome" [UniProt]
synonym: "Cryopyrin-associated periodic syndrome 3" [UniProt]
synonym: "Neonatal onset multisystem inflammatory disease" [UniProt]
synonym: "NOMID" [UniProt]
xref: MedGen:C0409818
xref: MeSH:D056587
xref: MIM:607115 "phenotype"
[Term]
id: DI-01350
name: Leukemia, chronic lymphocytic
def: "A chronic leukemia in which functionally incompetent B-lymphocytes progressively accumulate in the bone marrow, blood, and lymphoid tissues. The clinical evolution of the disorder is heterogeneous, with some patients having indolent disease and others having aggressive disease and short survival." []
synonym: "B-cell chronic lymphocytic Leukemia" [UniProt]
synonym: "Chronic lymphatic leukemia" [UniProt]
synonym: "Chronic lymphoid leukemia" [UniProt]
xref: MedGen:C0023434
xref: MeSH:D015451
xref: MIM:151400 "phenotype"
[Term]
id: DI-01351
name: Anemia, non-spherocytic hemolytic, due to G6PD deficiency
def: "A disease characterized by G6PD deficiency, acute hemolytic anemia, fatigue, back pain, and jaundice. In most patients, the disease is triggered by an exogenous agent, such as some drugs, food, or infection. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. Although G6PD deficiency can be life-threatening, most patients are asymptomatic throughout their life." []
xref: MedGen:C2720289
xref: MedGen:CN069445
xref: MeSH:D000746
xref: MIM:300908 "phenotype"
[Term]
id: DI-01352
name: Pulmonary disease, chronic obstructive
def: "A common, complex disorder defined by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease. Airflow obstruction is typically determined by reductions in quantitative spirometric indices, including forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC)." []
synonym: "Chronic obstructive lung disease" [UniProt]
synonym: "Severe early-onset chronic obstructive pulmonary disease" [UniProt]
xref: MedGen:C1847014
xref: MedGen:C1969833
xref: MedGen:C2751329
xref: MeSH:D029424
xref: MIM:606963 "phenotype"
[Term]
id: DI-01353
name: Cleidocranial dysplasia 1
def: "A form of cleidocranial dysplasia, a rare skeletal disorder with significant clinical variability, even within families. Patients typically present with delayed closure of cranial sutures and fontanels with multiple Wormian bones, retarded ossification of the skull, shortening of the distal phalanges, dental anomalies including supernumerary teeth and eruption failure, clavicular hypoplasia or aplasia, wide pubic symphysis, vertebral anomalies, and short stature. CLCD1 inheritance is autosomal dominant." []
synonym: "CCD" [UniProt]
synonym: "CLCD" [UniProt]
synonym: "Cleidocranial dysostosis" [UniProt]
xref: MedGen:C0008928
xref: MedGen:C1838416
xref: MedGen:C1861516
xref: MeSH:D002973
xref: MIM:119600 "phenotype"
[Term]
id: DI-01354
name: Coenzyme Q10 deficiency, primary, 1
def: "An autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form." []
synonym: "Coenzyme Q deficiency 1" [UniProt]
synonym: "CoQ deficiency 1" [UniProt]
synonym: "Primary CoQ10 deficiency 1" [UniProt]
synonym: "Ubiquinone deficiency 1" [UniProt]
xref: MedGen:C1843920
xref: MedGen:C3551954
xref: MeSH:D028361
xref: MIM:607426 "phenotype"
[Term]
id: DI-01355
name: Multiple epiphyseal dysplasia 6
def: "A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal." []
xref: MedGen:CN071420
xref: MeSH:D010009
xref: MIM:614135 "phenotype"
[Term]
id: DI-01356
name: Crisponi/Cold-induced sweating syndrome 1
def: "An autosomal recessive disorder characterized by profuse sweating induced by cool surroundings (temperatures of 7 to 18 degrees Celsius). Patients manifest, in the neonatal period, orofacial weakness with impaired sucking and swallowing, resulting in poor feeding. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. These features are referred to as Crisponi syndrome and can result in early death in infancy. Patients who survive into childhood have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis." []
synonym: "Crisponi syndrome" [UniProt]
synonym: "Muscle contractions tetanoform with characteristic face camptodactyly hyperthermia and sudden death" [UniProt]
synonym: "Sohar-Crisponi syndrome" [UniProt]
xref: MedGen:C1832409
xref: MedGen:C1848947
xref: MeSH:D000015
xref: MeSH:D006945
xref: MIM:272430 "phenotype"
[Term]
id: DI-01357
name: Crisponi/Cold-induced sweating syndrome 2
def: "An autosomal recessive disorder characterized by profuse sweating induced by cool surroundings (temperatures of 7 to 18 degrees Celsius). Patients manifest, in the neonatal period, orofacial weakness with impaired sucking and swallowing, resulting in poor feeding. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. These features are referred to as Crisponi syndrome and can result in early death in infancy. Patients who survive into childhood have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis." []
xref: MedGen:C1853198
xref: MeSH:D000015
xref: MeSH:D006945
xref: MIM:610313 "phenotype"
[Term]
id: DI-01358
name: Coloboma of optic nerve
def: "An ocular defect that is due to malclosure of the fetal intraocular fissure affecting the optic nerve head. In some affected individuals, it appears as enlargement of the physiologic cup with severely affected eyes showing huge cavities at the site of the disk." []
xref: MedGen:C0155299
xref: MedGen:C0393782
xref: MeSH:D009901
xref: MIM:120430 "phenotype"
[Term]
id: DI-01359
name: Colorectal cancer
def: "A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history." []
synonym: "Colon cancer" [UniProt]
xref: MedGen:C0009402
xref: MedGen:C0699790
xref: MedGen:C1527249
xref: MeSH:D015179
xref: MIM:114500 "phenotype"
[Term]
id: DI-01360
name: Combined cellular and humoral immune defects with granulomas
def: "Immunodeficiency disease with granulomas in the skin, mucous membranes, and internal organs. Other characteristics include hypogammaglobulinemia, a diminished number of T and B-cells, and sparse thymic tissue on ultrasonography." []
xref: MedGen:C2673536
xref: MIM:233650 "phenotype"
[Term]
id: DI-01361
name: Combined deficiency of vitamin K-dependent clotting factors 1
def: "VKCFD leads to a bleeding tendency that is usually reversed by oral administration of vitamin K." []
synonym: "MCFD3" [UniProt]
synonym: "Multiple coagulation factor deficiency III" [UniProt]
xref: MedGen:C1848534
xref: MIM:277450 "phenotype"
[Term]
id: DI-01362
name: Combined deficiency of vitamin K-dependent clotting factors 2
def: "VKCFD leads to a bleeding tendency that is usually reversed by oral administration of vitamin K." []
xref: MedGen:C1843832
xref: MIM:607473 "phenotype"
[Term]
id: DI-01363
name: Combined lipase deficiency
def: "Characterized by repeated episodes of pancreatitis, tuberous xanthomas and lipodystrophy and is caused by deficiency of both lipoprotein lipase (LPL) and hepatic triglyceride lipase (HTGL)." []
xref: MedGen:C1855498
xref: MIM:246650 "phenotype"
[Term]
id: DI-01364
name: Combined oxidative phosphorylation deficiency 1
def: "A mitochondrial disease resulting in early rapidly progressive hepatoencephalopathy." []
synonym: "Hepatoencephalopathy early fatal progressive" [UniProt]
xref: MedGen:C1836797
xref: MeSH:D028361
xref: MIM:609060 "phenotype"
[Term]
id: DI-01365
name: Combined oxidative phosphorylation deficiency 2
def: "A mitochondrial disease resulting in fatal neonatal metabolic acidosis with agenesis of the corpus callosum." []
synonym: "Agenesis of corpus callosum with dysmorphism and fatal lactic acidosis" [UniProt]
xref: MedGen:C1864843
xref: MeSH:D028361
xref: MIM:610498 "phenotype"
[Term]
id: DI-01366
name: Combined oxidative phosphorylation deficiency 3
def: "A mitochondrial disease resulting in severe metabolic acidosis with encephalomyopathy or with hypertrophic cardiomyopathy. Patients show a severe defect in mitochondrial translation leading to a failure to assemble adequate amounts of three of the oxidative phosphorylation complexes." []
synonym: "Concentric cardiomyopathy hypotonia and lactic acidosis" [UniProt]
synonym: "Encephalomyopathy respiratory failure and lactic acidosis" [UniProt]
xref: MedGen:C1864840
xref: MeSH:D028361
xref: MIM:610505 "phenotype"
[Term]
id: DI-01367
name: Combined oxidative phosphorylation deficiency 4
def: "A mitochondrial disease resulting in neonatal lactic acidosis, rapidly progressive encephalopathy, severely decreased mitochondrial protein synthesis, and combined deficiency of mtDNA-related mitochondrial respiratory chain complexes." []
xref: MedGen:C1857682
xref: MeSH:D028361
xref: MIM:610678 "phenotype"
[Term]
id: DI-01368
name: Combined oxidative phosphorylation deficiency 5
def: "A mitochondrial disease resulting in severe metabolic acidosis, edema, hypertrophic cardiomyopathy, tubulopathy, and hypotonia." []
xref: MedGen:C2673642
xref: MeSH:D028361
xref: MIM:611719 "phenotype"
[Term]
id: DI-01369
name: Pituitary hormone deficiency, combined, 2
def: "Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD2 is characterized by pleiotropic deficiencies of growth hormone, thyroid-stimulating hormone, follicle- stimulating hormone, luteinizing hormone, prolactin and adrenocorticotropic hormone." []
synonym: "Ateliotic dwarfism with hypogonadism" [UniProt]
synonym: "Hanhart dwarfism" [UniProt]
synonym: "Panhypopituitarism" [UniProt]
synonym: "Pituitary dwarfism III" [UniProt]
xref: MedGen:C0878683
xref: MeSH:D007018
xref: MIM:262600 "phenotype"
[Term]
id: DI-01370
name: Combined saposin deficiency
def: "An autosomal recessive storage disorder characterized by hepatosplenomegaly and severe neurologic disease, due to absence of all saposins. PSAPD has a fatal outcome in infancy." []
synonym: "Combined SAP deficiency" [UniProt]
synonym: "Prosaposin deficiency" [UniProt]
xref: MedGen:C2673635
xref: MeSH:D020739
xref: MIM:611721 "phenotype"
[Term]
id: DI-01371
name: Immunodeficiency, common variable, 2
def: "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low." []
synonym: "Antibody deficiency due to TACI defect" [UniProt]
synonym: "Hypogammaglobulinemia due to TACI deficiency" [UniProt]
xref: MedGen:C3150354
xref: MeSH:D017074
xref: MIM:240500 "phenotype"
[Term]
id: DI-01372
name: Complement component 5 deficiency
def: "A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis." []
synonym: "C5 deficiency" [UniProt]
xref: MedGen:C0343047
xref: MeSH:D007154
xref: MIM:609536 "phenotype"
[Term]
id: DI-01373
name: Complement component 8 deficiency, 1
def: "A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis." []
synonym: "C8 alpha-gamma deficiency" [UniProt]
synonym: "C8 deficiency type I" [UniProt]
synonym: "Complement component 8 deficiency type I" [UniProt]
xref: MedGen:C3151081
xref: MeSH:D007154
xref: MIM:613790 "phenotype"
[Term]
id: DI-01374
name: Complement component 8 deficiency, 2
def: "A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis." []
synonym: "C8 beta deficiency" [UniProt]
synonym: "C8 deficiency type II" [UniProt]
synonym: "Complement C8B deficiency" [UniProt]
synonym: "Complement component 8 deficiency type II" [UniProt]
xref: MedGen:C3151080
xref: MeSH:D007154
xref: MIM:613789 "phenotype"
[Term]
id: DI-01375
name: Complement component 6 deficiency
def: "A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis." []
synonym: "C6 deficiency" [UniProt]
synonym: "C6 deficiency subtotal" [UniProt]
synonym: "Complement component 6 deficiency subtotal" [UniProt]
xref: MedGen:C2676232
xref: MedGen:C2676233
xref: MeSH:D007154
xref: MIM:612446 "phenotype"
[Term]
id: DI-01376
name: Complement factor D deficiency
def: "An immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway." []
synonym: "Factor D deficiency" [UniProt]
xref: MedGen:C0398764
xref: MedGen:C1851396
xref: MeSH:D007154
xref: MIM:613912 "phenotype"
[Term]
id: DI-01377
name: Complement factor H deficiency
def: "A disorder that can manifest as several different phenotypes, including asymptomatic, recurrent bacterial infections, and renal failure. Laboratory features usually include decreased serum levels of factor H, complement component C3, and a decrease in other terminal complement components, indicating activation of the alternative complement pathway. It is associated with a number of renal diseases with variable clinical presentation and progression, including membranoproliferative glomerulonephritis and atypical hemolytic uremic syndrome." []
synonym: "CFH deficiency" [UniProt]
synonym: "Factor H deficiency" [UniProt]
xref: MedGen:C0398777
xref: MedGen:C1969214
xref: MedGen:C1969215
xref: MedGen:C1969216
xref: MeSH:D007154
xref: MIM:609814 "phenotype"
[Term]
id: DI-01378
name: Complement factor I deficiency
def: "Autosomal recessive condition associated with a propensity to pyogenic infections." []
xref: MedGen:C3463916
xref: MIM:610984 "phenotype"
[Term]
id: DI-01379
name: 46,XY sex reversal 7
def: "A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. SRXY7 patients have no functional gonads." []
synonym: "46,XY gonadal dysgenesis, partial or complete, DHH-related" [UniProt]
synonym: "46,XY sex reversal, partial or complete, DHH-related" [UniProt]
synonym: "Complete pure gonadal dysgenesis 46,XY type" [UniProt]
synonym: "GDXYM" [UniProt]
synonym: "Male-limited gonadal dysgenesis 46,XY" [UniProt]
xref: MedGen:C1856273
xref: MedGen:CN068862
xref: MeSH:D006061
xref: MIM:233420 "phenotype"
[Term]
id: DI-01380
name: Mitochondrial complex II deficiency, nuclear type 1
def: "A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations. Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre syndrome. MC2DN1 inheritance is autosomal recessive." []
synonym: "Complex 2 mitochondrial respiratory chain deficiency" [UniProt]
synonym: "Complex II mitochondrial respiratory chain deficiency" [UniProt]
synonym: "SDH-defective infantile leukoencephalopathy" [UniProt]
synonym: "Succinate CoQ reductase deficiency" [UniProt]
synonym: "Succinate dehydrogenase deficiency" [UniProt]
xref: MedGen:C1855008
xref: MeSH:D017237
xref: MIM:252011 "phenotype"
[Term]
id: DI-01381
name: Mitochondrial complex V deficiency, nuclear type 1
def: "A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid." []
synonym: "ATP synthase deficiency" [UniProt]
synonym: "ATPAF2 deficiency" [UniProt]
synonym: "ATPase deficiency" [UniProt]
synonym: "Complex 5 mitochondrial respiratory chain deficiency" [UniProt]
synonym: "Complex V mitochondrial respiratory chain deficiency" [UniProt]
synonym: "Mitochondrial complex V (ATP synthase) deficiency type 1" [UniProt]
synonym: "Mitochondrial complex V (ATP synthase) deficiency, ATPAF2 type" [UniProt]
xref: MedGen:C2700431
xref: MedGen:C2751773
xref: MedGen:C3276276
xref: MeSH:D017237
xref: MIM:604273 "phenotype"
[Term]
id: DI-01382
name: Complement component 7 deficiency
def: "A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis." []
synonym: "C7 deficiency" [UniProt]
xref: MedGen:C1864694
xref: MeSH:D007154
xref: MIM:610102 "phenotype"
[Term]
id: DI-01383
name: Complement component 9 deficiency
def: "A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. Some patients may develop dermatomyositis." []
synonym: "C9 deficiency" [UniProt]
synonym: "C9 deficiency with dermatomyositis" [UniProt]
xref: MedGen:C3151189
xref: MeSH:D007154
xref: MIM:613825 "phenotype"
[Term]
id: DI-01385
name: Congenital myopathy 12
def: "A lethal, autosomal recessive, congenital myopathy characterized by fetal akinesia, neonatal hypotonia, severe muscle weakness, loss of beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band." []
synonym: "Myopathy, congenital, Compton-North" [UniProt]
synonym: "MYPCN" [UniProt]
xref: MedGen:C2675527
xref: MeSH:D020914
xref: MIM:612540 "phenotype"
[Term]
id: DI-01386
name: Retinitis pigmentosa 50
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
synonym: "Retinitis pigmentosa concentric" [UniProt]
xref: MedGen:C2750788
xref: MedGen:C2750789
xref: MeSH:D012174
xref: MIM:613194 "phenotype"
[Term]
id: DI-01387
name: Congenital afibrinogenemia
def: "Rare autosomal recessive disorder is characterized by bleeding that varies from mild to severe and by complete absence or extremely low levels of plasma and platelet fibrinogen." []
xref: MedGen:C1859970
xref: MedGen:CN071205
xref: MIM:202400 "phenotype"
[Term]
id: DI-01388
name: Amegakaryocytic thrombocytopenia, congenital, 1
def: "An autosomal recessive form of congenital amegakaryocytic thrombocytopenia, a hematologic disorder characterized by severe reduction of megakaryocytes and platelets at birth, and evolving into generalized bone marrow aplasia during childhood." []
xref: MedGen:C1327915
xref: MeSH:D000080984
xref: MeSH:D013921
xref: MIM:604498 "phenotype"
[Term]
id: DI-01389
name: Congenital bilateral absence of the vas deferens
def: "An autosomal recessive disease characterized by vas deferens aplasia resulting in azoospermia and male infertility. CBAVD may occur in isolation or as a manifestation of cystic fibrosis." []
synonym: "CAVD" [UniProt]
xref: MedGen:C0403814
xref: MedGen:CN032726
xref: MeSH:D052801
xref: MIM:277180 "phenotype"
[Term]
id: DI-01390
name: Congenital cataracts, facial dysmorphism, and neuropathy
def: "An autosomal recessive developmental disorder characterized by a complex clinical phenotype with seemingly unrelated features involving multiple organs and systems. Developmental abnormalities include congenital cataracts and microcorneae, hypomyelination of the peripheral nervous system, impaired physical growth, delayed early motor and intellectual development, facial dysmorphism and hypogonadism. Central nervous system involvement, with cerebral and spinal cord atrophy, may be the result of disrupted development with superimposed degenerative changes. Affected individuals are prone to severe rhabdomyolysis after viral infections and to serious complications related to general anesthesia (such as pulmonary edema and epileptic seizures)." []
xref: MedGen:C1858726
xref: MeSH:D000015
xref: MIM:604168 "phenotype"
[Term]
id: DI-01391
name: Central hypoventilation syndrome, congenital, 1
def: "An autosomal dominant form of congenital central hypoventilation syndrome, a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia." []
synonym: "CCHS" [UniProt]
synonym: "Central hypoventilation syndrome, congenital" [UniProt]
synonym: "Congenital failure of autonomic control" [UniProt]
synonym: "Ondine curse" [UniProt]
xref: MedGen:C1275808
xref: MedGen:C1859049
xref: MedGen:C1876168
xref: MeSH:D007040
xref: MeSH:D020182
xref: MIM:209880 "phenotype"
[Term]
id: DI-01392
name: Cataract 3, multiple types
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT3 includes congenital cerulean and sutural cataract with punctate and cerulean opacities, among others. Cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Sutural cataract with punctate and cerulean opacities is characterized by white opacification around the anterior and posterior Y sutures, and grayish and bluish, spindle shaped, oval punctate and cerulean opacities of various sizes arranged in lamellar form. The spots are more concentrated towards the peripheral layers and do not delineate the embryonal or fetal nucleus. Phenotypic variation with respect to the size and density of the sutural opacities as well as the number and position of punctate and cerulean spots is observed among affected subjects." []
synonym: "CCA2" [UniProt]
synonym: "Congenital cataract blue dot type 2" [UniProt]
synonym: "Congenital cataract cerulean type 2" [UniProt]
synonym: "CSPC" [UniProt]
synonym: "Sutural cataract with punctate and cerulean opacities" [UniProt]
xref: MedGen:C1832175
xref: MeSH:D002386
xref: MIM:601547 "phenotype"
[Term]
id: DI-01394
name: Cataract 21, multiple types
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT21 includes cerulean and pulverulent cataracts. Cerulean cataracts are characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Pulverulent cataracts are characterized by a dust- like, 'pulverised' appearance of the opacities which can be found in any part of the lens. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye." []
synonym: "Cataract 21, multiple types, with or without microcornea" [UniProt]
synonym: "Cataract pulverulent juvenile-onset" [UniProt]
synonym: "Cataract, pulverulent or cerulean, with or without microcornea" [UniProt]
synonym: "CCA4" [UniProt]
synonym: "Congenital cataract blue dot type 4" [UniProt]
synonym: "Congenital cataract cerulean type 4" [UniProt]
xref: MedGen:C1857768
xref: MedGen:C1857769
xref: MeSH:D002386
xref: MIM:610202 "phenotype"
[Term]
id: DI-01395
name: Diarrhea 1, secretory chloride, congenital
def: "A disease characterized by voluminous watery stools containing an excess of chloride. The children with this disease are often premature." []
synonym: "Chloridorrhea congenital" [UniProt]
synonym: "CLD" [UniProt]
synonym: "Congenital chloride diarrhea Finnish type" [UniProt]
synonym: "Diarrhea 1 secretory chloride congenital" [UniProt]
xref: MedGen:C0267662
xref: MeSH:D003968
xref: MIM:214700 "phenotype"
[Term]
id: DI-01396
name: Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly
def: "A congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities. Clubfoot may occur in isolation or as part of a syndrome. Some patients present tibial hemimelia, bilateral patellar hypoplasia, and preaxial mirror-image polydactyly." []
synonym: "Talipes equinovarus" [UniProt]
synonym: "TEV" [UniProt]
xref: MedGen:C0009081
xref: MeSH:D003025
xref: MIM:119800 "phenotype"
[Term]
id: DI-01397
name: Contractural arachnodactyly, congenital
def: "An autosomal dominant connective tissue disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears." []
synonym: "Arthrogryposis, distal, type 9" [UniProt]
synonym: "Beals syndrome" [UniProt]
synonym: "CCA" [UniProt]
synonym: "Congenital contractural arachnodactyly" [UniProt]
synonym: "DA9" [UniProt]
xref: MedGen:C0220668
xref: MeSH:D001176
xref: MIM:121050 "phenotype"
[Term]
id: DI-01398
name: Congenital disorder of glycosylation 2F
def: "CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions." []
synonym: "CDG IIf" [UniProt]
synonym: "CDG-IIf" [UniProt]
synonym: "CDGIIf" [UniProt]
synonym: "Congenital disorder of glycosylation type IIf" [UniProt]
xref: MedGen:C1970344
xref: MeSH:D018981
xref: MIM:603585 "phenotype"
[Term]
id: DI-01399
name: Congenital disorder of glycosylation 2H
def: "CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions." []
synonym: "CDG IIh" [UniProt]
synonym: "CDG-IIh" [UniProt]
synonym: "CDGIIh" [UniProt]
synonym: "Congenital disorder of glycosylation type IIh" [UniProt]
xref: MedGen:C1970021
xref: MeSH:D018981
xref: MIM:611182 "phenotype"
[Term]
id: DI-01400
name: Anemia, congenital dyserythropoietic, 1A
def: "An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic anemia and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural features include internuclear chromatin bridges connecting some nearly completely separated erythroblasts and an abnormal appearance (spongy or Swiss-cheese appearance) of the heterochromatin in a high proportion of the erythroblasts." []
synonym: "CDA I" [UniProt]
synonym: "CDA Ia" [UniProt]
synonym: "Congenital dyserythropoietic anemia type I" [UniProt]
synonym: "Congenital dyserythropoietic anemia type Ia" [UniProt]
xref: MedGen:C0271933
xref: MeSH:D000742
xref: MIM:224120 "phenotype"
[Term]
id: DI-01401
name: Congenital erythropoietic porphyria
def: "Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. The manifestations of CEP are heterogeneous, ranging from nonimmune hydrops fetalis due to severe hemolytic anemia in utero to milder, later onset forms, which have only skin lesions due to cutaneous photosensitivity in adult life. The deficiency in UROS activity results in the non-enzymatic conversion of hydroxymethylbilane (HMB) into the uroporphyrinogen-I isomer." []
synonym: "Gunther disease" [UniProt]
xref: MedGen:C0162530
xref: MedGen:C2718078
xref: MIM:263700 "phenotype"
[Term]
id: DI-01402
name: Congenital glucose/galactose malabsorption
def: "Intestinal monosaccharide transporter deficiency. It is an autosomal recessive disorder manifesting itself within the first weeks of life. It is characterized by severe diarrhea and dehydration which are usually fatal unless glucose and galactose are eliminated from the diet." []
xref: MedGen:C0268186
xref: MIM:606824 "phenotype"
[Term]
id: DI-01403
name: Thyroid dyshormonogenesis 4
def: "A disorder due to thyroid dyshormonogenesis, causing severe hypothyroidism, goiter, excessive levels of iodotyrosine in serum and urine, and variable mental deficits derived from unrecognized and untreated hypothyroidism." []
synonym: "CHDH4" [UniProt]
synonym: "Congenital hypothyroidism due to dyshormonogenesis type 4" [UniProt]
synonym: "Deiodinase deficiency" [UniProt]
synonym: "Genetic defect in thyroid hormonogenesis type 4" [UniProt]
synonym: "Iodotyrosine dehalogenase deficiency" [UniProt]
xref: MedGen:C0342195
xref: MeSH:D003409
xref: MIM:274800 "phenotype"
[Term]
id: DI-01404
name: Hypothyroidism, congenital, non-goitrous, 5
def: "A non-autoimmune condition characterized by resistance to thyroid- stimulating hormone (TSH) leading to increased levels of plasma TSH and low levels of thyroid hormone. CHNG5 presents variable severity depending on the completeness of the defect. Most patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism and present a hypoplastic thyroid gland." []
xref: MedGen:C2673630
xref: MeSH:D003409
xref: MIM:225250 "phenotype"
[Term]
id: DI-01405
name: Congenital insensitivity to pain with anhidrosis
def: "Characterized by a congenital insensitivity to pain, anhidrosis (absence of sweating), absence of reaction to noxious stimuli, self- mutilating behavior, and intellectual disability. This rare autosomal recessive disorder is also known as congenital sensory neuropathy with anhidrosis or hereditary sensory and autonomic neuropathy type IV or familial dysautonomia type II." []
synonym: "Familial dysautonomia, type II" [UniProt]
synonym: "Hereditary sensory and autonomic neuropathy IV" [UniProt]
synonym: "HSAN IV" [UniProt]
synonym: "HSAN4" [UniProt]
synonym: "Neuropathy, congenital sensory, with anhidrosis" [UniProt]
xref: MedGen:C0020074
xref: MIM:256800 "phenotype"
[Term]
id: DI-01406
name: Congenital lactase deficiency
def: "Autosomal recessive, rare and severe gastrointestinal disorder. It is characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. An almost total lack of LCT activity is found in jejunal biopsy material of patients with congenital lactase deficiency. Opposite to congenital lactase deficiency, also known as lactose intolerance, is the most common enzyme deficiency worldwide. It is caused by developmental down- regulation of lactase activity during childhood or early adulthood. The decline of lactase activity is a normal physiological phenomenon; however, the majority of Northern Europeans have the ability to maintain lactase activity and digest lactose throughout life (lactase persistence). The down-regulation of lactase activity operates at the transcriptional level and it is associated with a noncoding variation in the MCM6 gene, located in the upstream vicinity of LCT." []
synonym: "Disaccharide intolerance II" [UniProt]
synonym: "Hereditary alactasia" [UniProt]
xref: MedGen:C0268179
xref: MIM:223000 "phenotype"
[Term]
id: DI-01407
name: Adrenal hyperplasia 1
def: "The most severe form of adrenal hyperplasia. It is a condition characterized by onset of profound adrenocortical insufficiency shortly after birth, hyperpigmentation reflecting increased production of pro-opiomelanocortin, elevated plasma renin activity as a consequence of reduced aldosterone synthesis, and male pseudohermaphroditism resulting from deficient fetal testicular testosterone synthesis. Affected individuals are phenotypic females irrespective of gonadal sex, and frequently die in infancy if mineralocorticoid and glucocorticoid replacement are not instituted." []
synonym: "Congenital lipoid adrenal hyperplasia" [UniProt]
synonym: "Congenital lipoid hyperplasia of adrenal cortex with male pseudohermaphroditism" [UniProt]
synonym: "Lipoid CAH" [UniProt]
xref: MedGen:C0342474
xref: MeSH:D000312
xref: MIM:201710 "phenotype"
[Term]
id: DI-01408
name: Diarrhea 4, malabsorptive, congenital
def: "A disease characterized by severe, life-threatening watery diarrhea associated with generalized malabsorption and a paucity of enteroendocrine cells." []
synonym: "Enteric anendocrinosis" [UniProt]
xref: MedGen:C1835888
xref: MeSH:D003968
xref: MIM:610370 "phenotype"
[Term]
id: DI-01409
name: Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5
def: "A congenital muscular dystrophy characterized by a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, secondary deficiency of laminin alpha2, and a marked reduction in alpha-dystroglycan expression. Only a subset of affected individuals have brain involvements." []
synonym: "MDC1C" [UniProt]
synonym: "Muscular dystrophy congenital type 1C" [UniProt]
synonym: "Muscular dystrophy FKRP-related" [UniProt]
xref: MedGen:C1847759
xref: MedGen:CN068805
xref: MeSH:D009136
xref: MIM:606612 "phenotype"
[Term]
id: DI-01410
name: Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B6
def: "A congenital muscular dystrophy associated with profound intellectual disability, white matter changes and structural brain abnormalities. Skeletal muscle biopsies show reduced immunolabeling of alpha- dystroglycan." []
synonym: "Congenital muscular dystrophy type 1D" [UniProt]
synonym: "MDC1D" [UniProt]
synonym: "Muscular dystrophy LARGE-related" [UniProt]
xref: MedGen:C1837229
xref: MeSH:D009136
xref: MIM:608840 "phenotype"
[Term]
id: DI-01411
name: Congenital myopathy with excess of muscle spindles
def: "Variant of Costello syndrome." []
xref: MedGen:C1968782
xref: MIM:218040 "phenotype"
[Term]
id: DI-01413
name: Congenital myopathy 4A, autosomal dominant
def: "A muscular disorder characterized by onset of muscle weakness in infancy or childhood. Most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Many patients have respiratory insufficiency with reduced vital capacity. Skeletal muscle biopsy shows nemaline rod inclusions, subsarcolemmal 'cap' structures, and fiber-type disproportion." []
synonym: "CAP myopathy 1" [UniProt]
synonym: "CAPM1" [UniProt]
synonym: "CFTD" [UniProt]
synonym: "CFTDM" [UniProt]
synonym: "Congenital fiber-type disproportion myopathy" [UniProt]
synonym: "Myopathy, congenital, with fiber-type disproportion" [UniProt]
synonym: "NEM1" [UniProt]
synonym: "Nemaline myopathy 1" [UniProt]
xref: MedGen:C0546264
xref: MeSH:D020914
xref: MIM:255310 "phenotype"
[Term]
id: DI-01414
name: Nephrotic syndrome 1
def: "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure." []
synonym: "CNF" [UniProt]
synonym: "Congenital nephrotic syndrome" [UniProt]
synonym: "Congenital nephrotic syndrome of the Finnish type" [UniProt]
synonym: "Finnish congenital nephrosis" [UniProt]
xref: MedGen:C0403399
xref: MeSH:D009404
xref: MIM:256300 "phenotype"
[Term]
id: DI-01416
name: Anterior segment dysgenesis 2
def: "A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. Some ASGD2 patients show congenital primary aphakia, a defect caused by eye development arrest around the 4th-5th week of gestation. This prevents the formation of any lens structure and leads to severe secondary ocular anomalies, including a complete aplasia of the anterior segment of the eye. In contrast, in secondary aphakic eyes, lens induction has occurred, and the lens vesicle has developed to some degree but finally has progressively resorbed perinatally, leading, therefore, to less severe ocular defects. ASGD2 inheritance is autosomal recessive." []
synonym: "Aphakia, congenital primary" [UniProt]
synonym: "Congenital primary aphakia" [UniProt]
synonym: "CPA" [UniProt]
synonym: "CPAK" [UniProt]
xref: MedGen:C1853230
xref: MeSH:D001035
xref: MIM:610256 "phenotype"
[Term]
id: DI-01417
name: Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies
def: "A disease characterized by life-threatening secretory diarrhea, severe metabolic acidosis and hyponatremia. Hyponatremia is secondary to extraordinarily high fecal sodium loss, with low or normal excretion of urinary sodium, in the absence of infectious, autoimmune and endocrine causes." []
synonym: "Congenital sodium diarrhea" [UniProt]
synonym: "CSD" [UniProt]
synonym: "Diarrhea 3, secretory sodium, congenital, syndromic" [UniProt]
xref: MedGen:C0267663
xref: MedGen:C2678346
xref: MeSH:D003968
xref: MIM:270420 "phenotype"
[Term]
id: DI-01418
name: Corneal dystrophy, congenital stromal
def: "A corneal dystrophy characterized by congenital corneal opacification consisting of a large number of flakes and spots throughout all layers of the stroma. It results in progressive, painless visual loss. Corneal erosions and photophobia are absent." []
xref: MedGen:C1864738
xref: MeSH:D003317
xref: MIM:610048 "phenotype"
[Term]
id: DI-01419
name: Congenital sucrase-isomaltase deficiency
def: "Autosomal recessive intestinal disorder that is clinically characterized by fermentative diarrhea, abdominal pain, and cramps upon ingestion of sugar. The symptoms are the consequence of absent or drastically reduced enzymatic activities of sucrase and isomaltase. The prevalence of CSID is 0.02 % in individuals of European descent and appears to be much higher in Greenland, Alaskan, and Canadian native people. CSID arises due to post-translational perturbations in the intracellular transport, polarized sorting, aberrant processing, and defective function of SI." []
synonym: "Disaccharide intolerance I" [UniProt]
xref: MedGen:C1283620
xref: MIM:222900 "phenotype"
[Term]
id: DI-01420
name: Glutamine deficiency, congenital
def: "An autosomal recessive disorder characterized by variable brain malformations, encephalopathy, severe developmental delay, seizures, and decreased glutamine levels in bodily fluids. Death in early infancy may occur." []
synonym: "Glutamine synthase deficiency, congenital systemic" [UniProt]
xref: MedGen:C1864910
xref: MeSH:D000592
xref: MIM:610015 "phenotype"
[Term]
id: DI-01421
name: Thrombotic thrombocytopenic purpura, hereditary
def: "An autosomal recessive hematologic disease characterized by hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and non-focal neurologic findings, decreased renal function and fever." []
synonym: "Deficiency of Upshaw factor" [UniProt]
synonym: "Microangiopathic hemolytic anemia" [UniProt]
synonym: "Microangiopathic hemolytic anemia congenital" [UniProt]
synonym: "Moschkowitz disease" [UniProt]
synonym: "Schulman-Upshaw syndrome" [UniProt]
synonym: "Thrombotic microangiopathy familial" [UniProt]
synonym: "Thrombotic thrombocytopenic purpura familial" [UniProt]
synonym: "Upshaw-Schulman syndrome" [UniProt]
synonym: "USS" [UniProt]
xref: MedGen:C1268935
xref: MedGen:C1956258
xref: MeSH:D011697
xref: MIM:274150 "phenotype"
[Term]
id: DI-01422
name: Vertical talus, congenital
def: "A rare malformation characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence." []
synonym: "Congenital convex pes valgus" [UniProt]
synonym: "Rocker-bottom foot deformity" [UniProt]
xref: MedGen:C0240912
xref: MedGen:C1840503
xref: MeSH:D005532
xref: MIM:192950 "phenotype"
[Term]
id: DI-01423
name: Cataract 10, multiple types
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT10 includes congenital zonular with sutural opacities, among others. This is a form of zonular cataract with an erect Y-shaped anterior and an inverted Y-shaped posterior sutural opacities. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes." []
synonym: "Cataract, congenital, zonular with sutural opacities" [UniProt]
synonym: "CCZS" [UniProt]
xref: MedGen:C1833229
xref: MeSH:D002386
xref: MIM:600881 "phenotype"
[Term]
id: DI-01424
name: Conotruncal heart malformations
def: "A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle." []
synonym: "CAFS" [UniProt]
synonym: "Common arterial trunk" [UniProt]
synonym: "Conotruncal anomaly face syndrome" [UniProt]
synonym: "Conotruncal heart defects" [UniProt]
synonym: "CTHD" [UniProt]
synonym: "DORV" [UniProt]
synonym: "Double-outlet right ventricle" [UniProt]
synonym: "Persistent truncus arteriosus" [UniProt]
synonym: "PTA" [UniProt]
synonym: "TAC" [UniProt]
synonym: "Truncus arteriosus communis" [UniProt]
xref: MedGen:C0013069
xref: MedGen:C0041207
xref: MedGen:C0152419
xref: MedGen:C0795907
xref: MedGen:C1857586
xref: MeSH:D004310
xref: MeSH:D014339
xref: MIM:217095 "phenotype"
[Term]
id: DI-01425
name: Cataract 2, multiple types
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT2 includes Coppock-like cataract, among others. Coppock-like cataract is a congenital pulverulent disk-like opacity involving the embryonic nucleus with many tiny white dots in the lamellar portion of the lens. It is usually bilateral and dominantly inherited. In some cases, CTRCT2 is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye." []
synonym: "Cataract 2, multiple types, with or without microcornea" [UniProt]
synonym: "Cataract Coppock-like" [UniProt]
synonym: "Cataract embryonic nuclear" [UniProt]
synonym: "CCL" [UniProt]
synonym: "Variable zonular pulverulent cataract" [UniProt]
xref: MedGen:C1852438
xref: MeSH:D002386
xref: MIM:604307 "phenotype"
[Term]
id: DI-01426
name: Corneal dystrophy and perceptive deafness
def: "An ocular disease characterized by the association of corneal clouding with progressive perceptive hearing loss." []
synonym: "CDPD1" [UniProt]
synonym: "Corneal dystrophy and sensorineural deafness" [UniProt]
synonym: "Corneal endothelial dystrophy and perceptive deafness" [UniProt]
synonym: "Harboyan syndrome" [UniProt]
xref: MedGen:C1857572
xref: MeSH:D003317
xref: MIM:217400 "phenotype"
[Term]
id: DI-01427
name: Corneal dystrophy, Groenouw type 1
def: "A rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment." []
synonym: "Corneal dystrophy Groenouw type I" [UniProt]
synonym: "GCD1" [UniProt]
synonym: "Granular corneal dystrophy type I" [UniProt]
synonym: "MeSH; D003317" [UniProt]
synonym: "Punctate or nodular corneal dystrophy" [UniProt]
xref: MedGen:C1641846
xref: MIM:121900 "phenotype"
[Term]
id: DI-01428
name: Corneal dystrophy, lattice type 1
def: "A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL1 is characterized by progressive visual impairment, and the presence of delicate, double-contoured, interdigitating, elongated deposits that form a reticular pattern in the corneal stroma. Systemic amyloidosis is absent. Recurrent corneal ulceration sometimes occurs." []
synonym: "Corneal dystrophy lattice type I" [UniProt]
synonym: "Lattice corneal dystrophy type I" [UniProt]
synonym: "LCD" [UniProt]
synonym: "LCD1" [UniProt]
xref: MedGen:C1690006
xref: MeSH:D003317
xref: MeSH:D028226
xref: MIM:122200 "phenotype"
[Term]
id: DI-01429
name: Corneal dystrophy, Thiel-Behnke type
def: "A bilateral disorder of the cornea characterized by progressive honeycomb-like, subepithelial corneal opacities with recurrent erosions." []
synonym: "CDB2" [UniProt]
synonym: "Corneal dystrophy of Bowman layer type II" [UniProt]
synonym: "Honeycomb-shaped corneal dystrophy" [UniProt]
synonym: "TBCD" [UniProt]
synonym: "Thiel-Behnke corneal dystrophy" [UniProt]
xref: MedGen:C1562894
xref: MeSH:D003317
xref: MIM:602082 "phenotype"
[Term]
id: DI-01430
name: Corneal endothelial dystrophy
def: "A congenital corneal dystrophy characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane." []
synonym: "CHED2" [UniProt]
synonym: "Congenital hereditary endothelial corneal dystrophy" [UniProt]
synonym: "Congenital hereditary endothelial dystrophy of cornea" [UniProt]
synonym: "Corneal endothelial dystrophy 2, autosomal recessive" [UniProt]
synonym: "Maumenee corneal dystrophy" [UniProt]
xref: MedGen:C1857569
xref: MeSH:D003317
xref: MIM:217700 "phenotype"
[Term]
id: DI-01431
name: Corneal dystrophy, fleck
def: "A form of stromal corneal dystrophy characterized by numerous small white flecks scattered in all levels of the stroma, with configurations varying from semicircular to wreath-like, curvilinear, or punctate. Although CFD may occasionally cause mild photophobia, patients are typically asymptomatic and have normal vision." []
synonym: "Corneal dystrophy Francois-Neetens speckled or flecked" [UniProt]
synonym: "FCD" [UniProt]
synonym: "Fleck corneal dystrophy" [UniProt]
xref: MedGen:C1562113
xref: MeSH:D003317
xref: MIM:121850 "phenotype"
[Term]
id: DI-01432
name: Cornelia de Lange syndrome 3 with or without midline brain defects
def: "A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. Cornelia de Lange syndrome type 3 is a mild form with absence of major structural anomalies. The phenotype in some instances approaches that of apparently non-syndromic intellectual disability." []
xref: MedGen:C1853099
xref: MeSH:D003635
xref: MIM:610759 "phenotype"
[Term]
id: DI-01433
name: Corticosteroid-binding globulin deficiency
def: "Extremely rare hereditary disorder characterized by reduced corticosteroid-binding capacity with normal or low plasma corticosteroid-binding globulin concentration, and normal or low basal cortisol levels associated with hypo/hypertension and muscle fatigue." []
xref: MedGen:C1852529
xref: MedGen:C1969107
xref: MIM:611489 "phenotype"
[Term]
id: DI-01434
name: Corticosterone methyloxidase 1 deficiency
def: "Autosomal recessive disorder of aldosterone biosynthesis. There are two biochemically different forms of selective aldosterone deficiency be termed corticosterone methyloxidase (CMO) deficiency type 1 and type 2. In CMO-1 deficiency, aldosterone is undetectable in plasma, while its immediate precursor, 18-hydroxycorticosterone, is low or normal." []
synonym: "Aldosterone deficiency due to defect in 18-hydroxylase" [UniProt]
synonym: "Aldosterone deficiency I" [UniProt]
xref: MedGen:CN074214
xref: MIM:203400 "phenotype"
[Term]
id: DI-01435
name: Corticosterone methyloxidase 2 deficiency
def: "Autosomal recessive disorder of aldosterone biosynthesis. In CMO-2 deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-hydroxycorticosterone. Consequently, patients have a greatly increased ratio of 18-hydroxycorticosterone to aldosterone and a low ratio of corticosterone to 18- hydroxycorticosterone in serum." []
xref: MedGen:C3463917
xref: MedGen:CN074247
xref: MIM:610600 "phenotype"
[Term]
id: DI-01436
name: Cortisone reductase deficiency 1
def: "An autosomal recessive error of cortisone metabolism characterized by a failure to regenerate cortisol from cortisone, resulting in increased cortisol clearance, activation of the hypothalamic-pituitary axis and ACTH-mediated adrenal androgen excess. Clinical features include hyperandrogenism resulting in hirsutism, oligo-amenorrhea, and infertility in females and premature pseudopuberty in males." []
xref: MedGen:C3551716
xref: MeSH:D008661
xref: MIM:604931 "phenotype"
[Term]
id: DI-01437
name: Costello syndrome
def: "A rare condition characterized by prenatally increased growth, postnatal growth deficiency, intellectual disability, distinctive facial appearance, cardiovascular abnormalities (typically pulmonic stenosis, hypertrophic cardiomyopathy and/or atrial tachycardia), tumor predisposition, skin and musculoskeletal abnormalities." []
synonym: "Faciocutaneoskeletal syndrome" [UniProt]
synonym: "FCS syndrome" [UniProt]
synonym: "FCSS" [UniProt]
xref: MedGen:C0587248
xref: MeSH:D056685
xref: MIM:218040 "phenotype"
[Term]
id: DI-01438
name: Coumarin resistance
def: "A condition characterized by partial or complete resistance to warfarin or other 4-hydroxycoumarin derivatives. These drugs are used as anti-coagulants for the prevention of thromboembolic diseases in subjects with deep vein thrombosis, atrial fibrillation, or mechanical heart valve replacement." []
synonym: "Poor metabolism of coumarin" [UniProt]
synonym: "Warfarin resistance" [UniProt]
xref: MedGen:C0750384
xref: MedGen:C2608079
xref: MedGen:C2675747
xref: MedGen:CN078029
xref: MeSH:D004351
xref: MIM:122700 "phenotype"
[Term]
id: DI-01439
name: Cousin syndrome
def: "Defined as pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphy (frontal bossing, hypertelorism, narrow palpebral fissures, deep set globes, strabismus, low-set posteriory rotated and unusually formed external ears, dysplasia of conchae, small chin, short neck with redundant skin folds, and a low hairline). Intelligence may vary from normal to moderately impaired. Radiographic features comprise aplasia of the body of the scapula, hypoplasia of the iliac bone, humeroradial synosthosis, dislocation of the femoral heads, and moderate brachydactyly." []
synonym: "Craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature" [UniProt]
xref: MedGen:C1850040
xref: MIM:260660 "phenotype"
[Term]
id: DI-01440
name: Cowden syndrome 1
def: "An autosomal dominant hamartomatous polyposis syndrome with age- related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid." []
synonym: "Bannayan-Riley-Ruvalcaba syndrome" [UniProt]
synonym: "Bannayan-Ruvalcaba-Riley syndrome" [UniProt]
synonym: "Bannayan-Zonana syndrome" [UniProt]
synonym: "BZS" [UniProt]
synonym: "CD" [UniProt]
synonym: "Cowden disease" [UniProt]
synonym: "CS" [UniProt]
synonym: "Macrocephaly multiple lipomas and hemangiomata" [UniProt]
synonym: "Macrocephaly pseudopapilledema and multiple hemangiomata" [UniProt]
synonym: "MHAM" [UniProt]
synonym: "Multiple hamartoma syndrome" [UniProt]
synonym: "PHTS" [UniProt]
synonym: "PTEN hamartoma tumor syndrome" [UniProt]
synonym: "Riley-Smith syndrome" [UniProt]
synonym: "RMSS" [UniProt]
synonym: "Ruvalcaba-Myhre-Smith syndrome" [UniProt]
xref: MedGen:C0018553
xref: MeSH:D006223
xref: MIM:158350 "phenotype"
[Term]
id: DI-01442
name: Craniofacial-deafness-hand syndrome
def: "Thought to be an autosomal dominant disease which comprises absence or hypoplasia of the nasal bones, hypoplastic maxilla, small and short nose with thin nares, limited movement of the wrist, short palpebral fissures, ulnar deviation of the fingers, hypertelorism and profound sensory-neural deafness." []
xref: MedGen:C1852510
xref: MIM:122880 "phenotype"
[Term]
id: DI-01443
name: Craniofrontonasal syndrome
def: "X-linked inherited syndrome characterized by hypertelorism, coronal synostosis with brachycephaly, downslanting palpebral fissures, clefting of the nasal tip, joint anomalies, longitudinally grooved fingernails and other digital anomalies." []
synonym: "CFND" [UniProt]
synonym: "Craniofrontonasal dysostosis" [UniProt]
synonym: "Craniofrontonasal dysplasia" [UniProt]
xref: MedGen:C0220767
xref: MeSH:D019465
xref: MIM:304110 "phenotype"
[Term]
id: DI-01444
name: Craniolenticulosutural dysplasia
def: "Autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects." []
synonym: "Boyadjiev-Jabs syndrome" [UniProt]
synonym: "Cranio-lenticulo-sutural dysplasia" [UniProt]
xref: MedGen:C1843042
xref: MeSH:D001848
xref: MeSH:D019465
xref: MIM:607812 "phenotype"
[Term]
id: DI-01445
name: Craniometaphyseal dysplasia, autosomal dominant
def: "An osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy." []
synonym: "CMDJ" [UniProt]
synonym: "Craniometaphyseal dysplasia Jackson type" [UniProt]
xref: MedGen:C1852502
xref: MeSH:D010009
xref: MeSH:D019465
xref: MIM:123000 "phenotype"
[Term]
id: DI-01446
name: Cranioosteoarthropathy
def: "A form of osteoarthropathy characterized by swelling of the joints, digital clubbing, hyperhidrosis, delayed closure of the fontanels, periostosis, and variable patent ductus arteriosus. Pachydermia is not a prominent feature." []
xref: MedGen:C2678439
xref: MedGen:C2678440
xref: MedGen:C2678441
xref: MeSH:D010004
xref: MIM:259100 "phenotype"
[Term]
id: DI-01447
name: Craniosynostosis 1
def: "A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability." []
synonym: "Craniostenosis" [UniProt]
synonym: "CRS" [UniProt]
xref: MedGen:C0265534
xref: MedGen:CN029978
xref: MeSH:D003398
xref: MIM:123100 "phenotype"
[Term]
id: DI-01448
name: Creutzfeldt-Jakob disease
def: "Occurs primarily as a sporadic disorder (1 per million), while 10-15% are familial. Accidental transmission of CJD to humans appears to be iatrogenic (contaminated human growth hormone (HGH), corneal transplantation, electroencephalographic electrode implantation, etc.). Epidemiologic studies have failed to implicate the ingestion of infected animal meat in the pathogenesis of CJD in human. The triad of microscopic features that characterize the prion diseases consists of (1) spongiform degeneration of neurons, (2) severe astrocytic gliosis that often appears to be out of proportion to the degree of nerve cell loss, and (3) amyloid plaque formation. CJD is characterized by progressive dementia and myoclonic seizures, affecting adults in mid- life. Some patients present sleep disorders, abnormalities of high cortical function, cerebellar and corticospinal disturbances. The disease ends in death after a 3-12 months illness." []
xref: MedGen:C0022336
xref: MedGen:C0376329
xref: MedGen:C0751254
xref: MedGen:C1852467
xref: MedGen:C1969957
xref: MIM:123400 "phenotype"
[Term]
id: DI-01449
name: Crigler-Najjar syndrome 1
def: "Patients have severe hyperbilirubinemia and usually die of kernicterus (bilirubin accumulation in the basal ganglia and brainstem nuclei) within the first year of life. CN1 inheritance is autosomal recessive." []
synonym: "CN-I" [UniProt]
synonym: "Crigler-Najjar syndrome type I" [UniProt]
xref: MedGen:C0010324
xref: MIM:218800 "phenotype"
[Term]
id: DI-01450
name: Crigler-Najjar syndrome 2
def: "Patients have less severe hyperbilirubinemia and usually survive into adulthood without neurologic damage. Phenobarbital, which induces the partially deficient glucuronyl transferase, can diminish the jaundice. CN2 inheritance is autosomal dominant." []
synonym: "CN-II" [UniProt]
synonym: "Crigler-Najjar syndrome type II" [UniProt]
xref: MedGen:C0268311
xref: MedGen:C2931132
xref: MIM:606785 "phenotype"
[Term]
id: DI-01452
name: Inflammatory bowel disease 1
def: "A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints." []
synonym: "Crohn disease" [UniProt]
synonym: "Crohn disease-associated growth failure" [UniProt]
synonym: "Inflammatory bowel disease (Crohn disease) 1" [UniProt]
synonym: "Regional enteritis" [UniProt]
synonym: "Ulcerative colitis" [UniProt]
xref: MedGen:C0009324
xref: MedGen:C0010346
xref: MedGen:C0678202
xref: MedGen:C2675113
xref: MeSH:D003093
xref: MeSH:D003424
xref: MIM:266600 "phenotype"
[Term]
id: DI-01453
name: Crouzon syndrome with acanthosis nigricans
def: "Classic Crouzon disease which is caused by mutations in the FGFR2 gene is characterized by craniosynostosis (premature fusion of the skull sutures), and facial hypoplasia. Crouzon syndrome with acanthosis nigricans (a skin disorder characterized by pigmentation anomalies), CAN, is considered to be an independent disorder from classic Crouzon syndrome. CAN is characterized by additional more severe physical manifestation, such as Chiari malformation, hydrocephalus, and atresia or stenosis of the choanas, and is caused by a specific mutation (Ala- 391 to Glu) in the transmembrane domain of FGFR3. It is proposed to have an autosomal dominant mode of inheritance." []
xref: MedGen:C2677099
xref: MIM:612247 "phenotype"
[Term]
id: DI-01454
name: Cirrhosis
def: "A liver disease characterized by severe panlobular liver-cell swelling with Mallory body formation, prominent pericellular fibrosis, and marked deposits of copper. Clinical features include abdomen swelling, jaundice and pulmonary hypertension." []
synonym: "Cryptogenic cirrhosis" [UniProt]
xref: MedGen:C0267809
xref: MedGen:C0268074
xref: MedGen:C1835713
xref: MedGen:C1859088
xref: MedGen:C1861556
xref: MedGen:C1876164
xref: MedGen:C1876165
xref: MedGen:C1876166
xref: MIM:215600 "phenotype"
[Term]
id: DI-01455
name: Cryptorchidism
def: "One of the most frequent congenital abnormalities in humans, involving 2-5% of male births. Cryptorchidism is associated with increased risk of infertility and testicular cancer." []
synonym: "Impaired testicular descent" [UniProt]
xref: MedGen:C0010417
xref: MIM:219050 "phenotype"
[Term]
id: DI-01456
name: Cataract 4, multiple types
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT4 includes crystalline aculeiform, congenital cerulean and non-nuclear polymorphic cataracts, among others. Crystalline aculeiform cataract is characterized by fiberglass-like or needle-like crystals projecting in different directions, through or close to the axial region of the lens. Non- nuclear polymorphic cataract is a partial opacity with variable location between the fetal nucleus of the lens and the equator. The fetal nucleus is normal. The opacities are irregular and look similar to a bunch of grapes and may be present simultaneously in different lens layers. Congenital cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract." []
synonym: "Aculeiform cataract" [UniProt]
synonym: "CACA" [UniProt]
synonym: "Cataract 4, multiple types, with or without microcornea" [UniProt]
synonym: "CCA3" [UniProt]
synonym: "CCP" [UniProt]
synonym: "Congenital cataract blue dot type 3" [UniProt]
synonym: "Congenital cataract cerulean type 3" [UniProt]
synonym: "Congenital non-nuclear polymorphic cataract" [UniProt]
synonym: "Crystalline aculeiform cataract" [UniProt]
synonym: "PCC" [UniProt]
synonym: "Punctate, progressive juvenile-onset, cataract" [UniProt]
xref: MedGen:C1852422
xref: MedGen:C1861832
xref: MedGen:C3540850
xref: MeSH:D002386
xref: MIM:115700 "phenotype"
[Term]
id: DI-01457
name: Corneal dystrophy, Schnyder type
def: "A form of stromal corneal dystrophy characterized by corneal clouding, resulting from abnormal deposition of cholesterol and phospholipids, and decreased visual acuity. Typically, ring-shaped yellow-white opacities composed of innumerable fine needle-shaped crystals form in Bowman layer and the adjacent anterior stroma of the central cornea. The crystals usually remain in the anterior third of the cornea. The corneal epithelium and endothelium as well as Descemet membrane are spared." []
synonym: "SCD" [UniProt]
synonym: "Schnyder corneal dystrophy" [UniProt]
synonym: "Schnyder crystalline corneal dystrophy" [UniProt]
xref: MedGen:C0271287
xref: MeSH:D003317
xref: MIM:121800 "phenotype"
[Term]
id: DI-01458
name: Currarino syndrome
def: "The triad of a presacral tumor, sacral agenesis and anorectal malformation constitutes the Currarino syndrome which is caused by dorsal-ventral patterning defects during embryonic development. The syndrome occurs in the majority of patients as an autosomal dominant trait." []
xref: MedGen:C1531773
xref: MedGen:C1867774
xref: MedGen:C1867775
xref: MIM:176450 "phenotype"
[Term]
id: DI-01459
name: Melanoma, cutaneous malignant 2
def: "A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but may also involve other sites." []
synonym: "Cutaneous malignant melanoma 2" [UniProt]
xref: MedGen:C1835044
xref: MeSH:D008545
xref: MIM:155601 "phenotype"
[Term]
id: DI-01460
name: Melanoma, cutaneous malignant 3
def: "A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but may also involve other sites." []
synonym: "Cutaneous malignant melanoma 3" [UniProt]
xref: MedGen:C1836892
xref: MeSH:D008545
xref: MIM:609048 "phenotype"
[Term]
id: DI-01461
name: Cutis laxa, autosomal recessive, 2A
def: "A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases." []
synonym: "ARCL2" [UniProt]
synonym: "CL type IIA" [UniProt]
synonym: "Cutis laxa autosomal recessive type IIA" [UniProt]
synonym: "Cutis laxa with bone dystrophy" [UniProt]
synonym: "Cutis laxa with congenital disorder of glycosylation" [UniProt]
synonym: "Cutis laxa with growth and developmental delay" [UniProt]
synonym: "Cutis laxa with joint laxity and retarded development" [UniProt]
synonym: "Cutis laxa, Debre type" [UniProt]
xref: MedGen:C0268355
xref: MeSH:D003483
xref: MIM:219200 "phenotype"
[Term]
id: DI-01462
name: Cutis laxa, autosomal recessive, 2B
def: "A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Patients do not manifest metabolic abnormalities." []
synonym: "CL type IIB" [UniProt]
synonym: "Cutis laxa autosomal recessive type IIB" [UniProt]
synonym: "Cutis laxa with progeroid features" [UniProt]
xref: MedGen:C2751987
xref: MeSH:D003483
xref: MIM:612940 "phenotype"
[Term]
id: DI-01463
name: Cyclic haematopoiesis
def: "Autosomal dominant disease in which blood-cell production from the bone marrow oscillates with 21-day periodicity. Circulating neutrophils vary between almost normal numbers and zero. During intervals of neutropenia, affected individuals are at risk for opportunistic infection. Monocytes, platelets, lymphocytes and reticulocytes also cycle with the same frequency." []
synonym: "Cyclic neutropenia" [UniProt]
xref: MedGen:C0221023
xref: MeSH:D009503
xref: MIM:162800 "phenotype"
[Term]
id: DI-01464
name: Cystathionine beta-synthase deficiency
def: "An enzymatic deficiency resulting in altered sulfur metabolism and homocystinuria. The clinical features of untreated homocystinuria due to CBS deficiency include myopia, ectopia lentis, intellectual disability, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine." []
synonym: "CBS deficiency" [UniProt]
synonym: "Homocystinuria due to cystathionine beta-synthase deficiency" [UniProt]
synonym: "Homocystinuria with or without response to pyridoxine" [UniProt]
synonym: "Hyperhomocysteinemia thrombotic CBS-related" [UniProt]
xref: MedGen:C3150344
xref: MeSH:D006712
xref: MIM:236200 "phenotype"
[Term]
id: DI-01465
name: Cystathioninuria
def: "Autosomal recessive phenotype characterized by abnormal accumulation of plasma cystathionine, leading to increased urinary excretion." []
synonym: "Cystathionase deficiency" [UniProt]
xref: MedGen:C0220993
xref: MedGen:C0268616
xref: MedGen:C3495552
xref: MeSH:D020138
xref: MIM:219500 "phenotype"
[Term]
id: DI-01466
name: Cystic fibrosis
def: "A common generalized disorder of the exocrine glands which impairs clearance of secretions in a variety of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent respiratory infections), pancreatic insufficiency (which leads to malabsorption and growth retardation) and elevated sweat electrolytes. It is the most common genetic disease in Caucasians, with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive." []
synonym: "Mucoviscidosis" [UniProt]
xref: MedGen:C0010674
xref: MeSH:D003550
xref: MIM:219700 "phenotype"
[Term]
id: DI-01467
name: Cystinosis, nephropathic type
def: "A form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. The classical nephropathic form has onset in the first year of life and is characterized by a polyuro-polydipsic syndrome, marked height-weight growth delay, generalized impaired proximal tubular reabsorptive capacity, with severe fluid-electrolyte balance alterations, renal failure, ocular symptoms and other systemic complications." []
synonym: "Cystinosis atypical nephropathic" [UniProt]
synonym: "Cystinosis infantile nephropathic" [UniProt]
synonym: "Defect of cystinosin" [UniProt]
synonym: "Defect of lysosomal cystine transport protein" [UniProt]
xref: MedGen:C0010690
xref: MedGen:C2749685
xref: MedGen:C2931187
xref: MedGen:C3537440
xref: MeSH:D003554
xref: MIM:219800 "phenotype"
[Term]
id: DI-01468
name: Cystinuria
def: "An autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure." []
synonym: "CSNU1" [UniProt]
synonym: "CSNU3" [UniProt]
synonym: "Cystinuria 1" [UniProt]
synonym: "Cystinuria type A" [UniProt]
synonym: "Cystinuria type A/B" [UniProt]
synonym: "Cystinuria type B" [UniProt]
synonym: "Cystinuria type I" [UniProt]
synonym: "Cystinuria type II" [UniProt]
synonym: "Cystinuria type III" [UniProt]
synonym: "Cystinuria type non-I" [UniProt]
xref: MedGen:C0010691
xref: MedGen:C1857388
xref: MedGen:C1857389
xref: MedGen:C1857390
xref: MeSH:D003555
xref: MIM:220100 "phenotype"
[Term]
id: DI-01469
name: Mitochondrial complex IV deficiency
def: "A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and intellectual disability. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome." []
synonym: "Complex 4 mitochondrial respiratory chain deficiency" [UniProt]
synonym: "Complex IV mitochondrial respiratory chain deficiency" [UniProt]
synonym: "COX deficiency" [UniProt]
synonym: "Cytochrome c oxidase deficiency" [UniProt]
synonym: "Lethal neonatal cardiomyopathy hypertrophic due to cytochrome c oxidase deficiency" [UniProt]
xref: MedGen:C0268237
xref: MeSH:D030401
xref: MIM:220110 "phenotype"
[Term]
id: DI-01470
name: Phosphoenolpyruvate carboxykinase deficiency, cytosolic
def: "An autosomal recessive metabolic disorder characterized by impaired gluconeogenesis, hypoglycemia, hypotonia, hepatomegaly, hepatic dysfunction, failure to thrive, lactic acidosis, and elevated tricarboxylic acid intermediates, particularly fumarate, in urine." []
synonym: "PCK1 deficiency, cytosolic" [UniProt]
synonym: "PEPCK deficiency, cytosolic" [UniProt]
xref: MedGen:C0268194
xref: MeSH:D002239
xref: MIM:261680 "phenotype"
[Term]
id: DI-01471
name: D-bifunctional protein deficiency
def: "Disorder of peroxisomal fatty acid beta-oxidation." []
xref: MedGen:C0342870
xref: MIM:261515 "phenotype"
[Term]
id: DI-01473
name: Darier disease
def: "A skin disorder characterized by warty papules and plaques in seborrheic areas (central trunk, flexures, scalp and forehead), palmoplantar pits and distinctive nail abnormalities. It is due to loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Patients with mild disease may have no more than a few scattered keratotic papules or subtle nail changes, whereas those with severe disease are handicapped by widespread malodorous keratotic plaques. Some patients present with hemorrhage into acantholytic vesicles on the palms and dorsal aspects of the fingers which gives rise to black macules. In a few families affected by Darier disease, neuropsychiatric abnormalities such as mild intellectual disability, schizophrenia, bipolar disorder and epilepsy have been reported. Stress, UV exposure, heat, sweat, friction and oral contraception exacerbate disease symptoms. Clinical variants of Darier disease include hypertrophic, vesicobullous, hypopigmented, cornifying, zosteriform or linear, acute and comedonal subtypes. Comedonal Darier disease is characterized by the coexistence of acne-like comedonal lesions with typical Darier hyperkeratotic papules on light-exposed areas. At histopathologic level, comedonal Darier disease differs from classic Darier disease in the prominent follicular involvement and the presence of greatly elongated dermal villi." []
synonym: "DAR" [UniProt]
synonym: "Darier disease acral hemorrhagic type" [UniProt]
synonym: "Darier disease segmental" [UniProt]
synonym: "Darier-White disease" [UniProt]
synonym: "Keratosis follicularis" [UniProt]
xref: MedGen:C0022595
xref: MedGen:C1852296
xref: MedGen:C1852297
xref: MeSH:D007644
xref: MIM:124200 "phenotype"
[Term]
id: DI-01474
name: Deafness-infertility syndrome
def: "Characterized by deafness and infertility and is caused by large contiguous gene deletions at 15q15.3 that removes both STRC and CATSPER2 genes." []
synonym: "Chromosome 15q15.3 deletion syndrome" [UniProt]
synonym: "Deafness, sensorineural, and male infertility" [UniProt]
xref: MedGen:C1970187
xref: MIM:611102 "phenotype"
[Term]
id: DI-01475
name: Deafness with labyrinthine aplasia, microtia and microdontia
def: "Unique autosomal recessive syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated with a complete absence of inner ear structures (Michel aplasia)." []
synonym: "Congenital deafness with inner ear agenesis, microtia and microdontia" [UniProt]
xref: MedGen:C1853144
xref: MIM:610706 "phenotype"
[Term]
id: DI-01476
name: Dentatorubral-pallidoluysian atrophy
def: "Autosomal dominant neurodegenerative disorder characterized by a loss of neurons in the dentate nucleus, rubrum, glogus pallidus and Luys'body. Clinical features are myoclonus epilepsy, dementia, and cerebellar ataxia. Onset of the disease occurs usually in the second decade of life and death in the fourth." []
xref: MedGen:C0751781
xref: MedGen:C2931846
xref: MIM:125370 "phenotype"
[Term]
id: DI-01477
name: Dentin dysplasia 2
def: "A dental defect in which the deciduous teeth are opalescent. The permanent teeth are of normal shape, form, and color in most cases. The root length is normal. On radiographs, the pulp chambers of permanent teeth are obliterated, have a thistle-tube deformity and contain pulp stones." []
synonym: "Anomalous dysplasia of dentin" [UniProt]
synonym: "Coronal dentin dysplasia" [UniProt]
synonym: "Dentin dysplasia Shields type II" [UniProt]
synonym: "Pulp stones" [UniProt]
synonym: "Pulpal dysplasia" [UniProt]
xref: MedGen:C0399380
xref: MedGen:C1527284
xref: MeSH:D003784
xref: MeSH:D003805
xref: MIM:125420 "phenotype"
[Term]
id: DI-01478
name: Dentinogenesis imperfecta, Shields type 3
def: "A form of dentinogenesis imperfecta, an autosomal dominant dentin disorder characterized by amber-brown, opalescent teeth that fracture and shed their enamel during mastication, thereby exposing the dentin to rapid wear. Radiographically, the crown appears bulbous and pulpal obliteration is common. The pulp chambers are initially larger than normal prior and immediately after tooth eruption, and then progressively close down to become almost obliterated by abnormal dentin formation. Roots are short and thin. Both primary and permanent teeth are affected. DGI3 teeth typically manifest multiple periapical radiolucencies. DGI3 is not associated with osteogenesis imperfecta." []
synonym: "Brandywine type dentinogenesis imperfecta" [UniProt]
xref: MedGen:C0399378
xref: MeSH:D003811
xref: MIM:125500 "phenotype"
[Term]
id: DI-01479
name: Dentinogenesis imperfecta, Shields type 2
def: "A form of dentinogenesis imperfecta, an autosomal dominant dentin disorder characterized by amber-brown, opalescent teeth that fracture and shed their enamel during mastication, thereby exposing the dentin to rapid wear. Radiographically, the crown appears bulbous and pulpal obliteration is common. The pulp chambers are initially larger than normal prior and immediately after tooth eruption, and then progressively close down to become almost obliterated by abnormal dentin formation. Roots are short and thin. Both primary and permanent teeth are affected. DGI2 is not associated with osteogenesis imperfecta." []
synonym: "Capdepont teeth" [UniProt]
synonym: "Dentinogenesis imperfecta 1" [UniProt]
synonym: "Dentinogenesis imperfecta Shields type II" [UniProt]
synonym: "Dentinogenesis imperfecta without osteogenesis imperfecta" [UniProt]
synonym: "DGI-II" [UniProt]
synonym: "DGI1" [UniProt]
synonym: "Non-syndromic dentinogenesis imperfecta" [UniProt]
synonym: "Non-syndromic DGI" [UniProt]
synonym: "Opalescent dentin" [UniProt]
synonym: "Opalescent teeth without osteogenesis imperfecta" [UniProt]
xref: MedGen:C0205730
xref: MedGen:C2973527
xref: MeSH:D003811
xref: MIM:125490 "phenotype"
[Term]
id: DI-01480
name: Denys-Drash syndrome
def: "Typical nephropathy characterized by diffuse mesangial sclerosis, genital abnormalities, and/or Wilms tumor. There is phenotypic overlap with WAGR syndrome and Frasier syndrome. Inheritance is autosomal dominant, but most cases are sporadic." []
xref: MedGen:C0950121
xref: MIM:194080 "phenotype"
[Term]
id: DI-01481
name: Myopathy, myofibrillar, 1
def: "A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM1 is characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias, restrictive heart failure, and accumulation of desmin- reactive deposits in cardiac and skeletal muscle cells." []
synonym: "Arrhythmogenic right ventricular cardiomyopathy 7" [UniProt]
synonym: "ARVC7" [UniProt]
synonym: "ARVD7" [UniProt]
synonym: "Autosomal dominant inclusion body myopathy 1" [UniProt]
synonym: "CDCD3" [UniProt]
synonym: "CMD1F and LGMD1D" [UniProt]
synonym: "Desmin-related myopathy" [UniProt]
synonym: "Desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy" [UniProt]
synonym: "Desminopathy primary" [UniProt]
synonym: "Dilated cardiomyopathy 1F and limb-girdle muscular dystrophy type 1D" [UniProt]
synonym: "Dilated cardiomyopathy with conduction defect and muscular dystrophy" [UniProt]
synonym: "DRM" [UniProt]
synonym: "Familial arrhythmogenic right ventricular dysplasia 7" [UniProt]
synonym: "LGMD2R" [UniProt]
synonym: "Limb-girdle muscular dystrophy 2R" [UniProt]
synonym: "MFM desmin-related" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 2R" [UniProt]
synonym: "Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy" [UniProt]
synonym: "Myopathy myofibrillar desmin-related" [UniProt]
xref: MedGen:C1832370
xref: MeSH:D020914
xref: MIM:601419 "phenotype"
[Term]
id: DI-01482
name: Desmosterolosis
def: "Rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells." []
xref: MedGen:C1865596
xref: MIM:602398 "phenotype"
[Term]
id: DI-01483
name: Dihydropyrimidinase deficiency
def: "An autosomal recessive disorder of pyrimidine metabolism characterized by dihydropyrimidinuria. It is associated with a variable clinical phenotype characterized by epileptic or convulsive attacks, dysmorphic features and severe developmental delay, and congenital microvillous atrophy. Most patients are, however, asymptomatic." []
synonym: "Dihydropyrimidinuria due to DPYS deficiency" [UniProt]
synonym: "DPH deficiency" [UniProt]
synonym: "DPYS deficiency" [UniProt]
xref: MedGen:C0342803
xref: MedGen:C3495551
xref: MeSH:D011686
xref: MIM:222748 "phenotype"
[Term]
id: DI-01484
name: Pancreatic and cerebellar agenesis
def: "A disease characterized by neonatal diabetes mellitus, cerebellar agenesis or hypoplasia, severe intrauterine growth retardation, the presence of very little subcutaneous fat, and dysmorphic facial features." []
synonym: "Diabetes mellitus and cerebellar hypoplasia/agenesis" [UniProt]
synonym: "Permanent neonatal diabetes mellitus with cerebellar agenesis" [UniProt]
xref: MedGen:C1836780
xref: MeSH:D003920
xref: MIM:609069 "phenotype"
[Term]
id: DI-01485
name: Diaphragmatic hernia 3
def: "A form of congenital diaphragmatic hernia, a posterolateral defect of the diaphragm, generally located on the left side, that permits the herniation of abdominal viscera into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects." []
xref: MedGen:C1857781
xref: MeSH:D065630
xref: MIM:610187 "phenotype"
[Term]
id: DI-01487
name: DiGeorge syndrome
def: "A congenital syndrome characterized by a wide spectrum of characteristics including parathyroid hypoplasia resulting in hypocalcemia, thymic hypoplasia resulting in T-cell immunodeficiency, defects in the outflow tract of the heart, and craniofacial anomalies. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype." []
synonym: "Chromosome 22q11.2 deletion syndrome" [UniProt]
synonym: "Hypoplasia of thymus and parathyroids" [UniProt]
synonym: "Third and fourth pharyngeal pouch syndrome" [UniProt]
xref: MedGen:C0012236
xref: MedGen:C1861129
xref: MeSH:D004062
xref: MIM:188400 "phenotype"
[Term]
id: DI-01488
name: Dihydropyrimidine dehydrogenase deficiency
def: "A metabolic disorder with large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and intellectual disability. It is characterized by persistent urinary excretion of excessive amounts of uracil, thymine and 5-hydroxymethyluracil. Patients suffering from this disease show a severe reaction to the anticancer drug 5-fluorouracil." []
synonym: "Dihydropyrimidinuria" [UniProt]
synonym: "DPD deficiency" [UniProt]
synonym: "DPYD deficiency" [UniProt]
synonym: "Familial pyrimidinemia" [UniProt]
synonym: "Hereditary thymine-uraciluria" [UniProt]
xref: MedGen:C1959620
xref: MedGen:C2720286
xref: MeSH:D054067
xref: MIM:274270 "phenotype"
[Term]
id: DI-01489
name: Left ventricular non-compaction 3
def: "A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC3 is an autosomal dominant condition." []
synonym: "Left ventricular noncompaction 3" [UniProt]
xref: MedGen:C3152137
xref: MeSH:D056830
xref: MIM:601493 "phenotype"
[Term]
id: DI-01490
name: Porokeratosis 3, multiple types
def: "A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported." []
synonym: "Disseminated superficial actinic porokeratosis 1" [UniProt]
synonym: "DSAP1" [UniProt]
synonym: "Porokeratosis 3, disseminated superficial actinic type" [UniProt]
synonym: "Porokeratosis, disseminated superficial actinic, 1" [UniProt]
xref: MedGen:C1867981
xref: MeSH:D017499
xref: MIM:175900 "phenotype"
[Term]
id: DI-01491
name: Arthrogryposis, distal, 1A
def: "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected." []
synonym: "AMC" [UniProt]
synonym: "AMCD1" [UniProt]
synonym: "Arthrogryposis multiplex congenita" [UniProt]
synonym: "Arthrogryposis multiplex congenita distal type 1" [UniProt]
xref: MedGen:C0220662
xref: MeSH:D001176
xref: MIM:108120 "phenotype"
[Term]
id: DI-01492
name: Arthrogryposis, distal, 2A
def: "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2A is characterized by contractures of the hands and feet, oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice, puckered lips, and a H-shaped dimple of the chin." []
synonym: "Craniocarpotarsal dysplasia" [UniProt]
synonym: "Craniocarpotarsal dystrophy" [UniProt]
synonym: "Freeman-Sheldon syndrome" [UniProt]
synonym: "FSS" [UniProt]
synonym: "Whistling face-windmill vane hand syndrome" [UniProt]
xref: MedGen:C0265224
xref: MeSH:D001176
xref: MIM:193700 "phenotype"
[Term]
id: DI-01493
name: Arthrogryposis, distal, 2B1
def: "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2B is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B1 inheritance is autosomal dominant." []
synonym: "AMCD2B" [UniProt]
synonym: "Arthrogryposis multiplex congenita distal type 2B" [UniProt]
synonym: "Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities" [UniProt]
synonym: "Freeman-Sheldon syndrome variant" [UniProt]
synonym: "FSSV" [UniProt]
synonym: "Sheldon-Hall syndrome" [UniProt]
synonym: "SHS" [UniProt]
xref: MedGen:C1834523
xref: MeSH:D001176
xref: MIM:601680 "phenotype"
[Term]
id: DI-01494
name: Distal myopathy with anterior tibial onset
def: "Onset of the disorder is between 14 and 28 years of age and the anterior tibial muscles are the first muscle group to be involved. Inheritance is autosomal recessive." []
xref: MedGen:C1847532
xref: MIM:606768 "phenotype"
[Term]
id: DI-01495
name: Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
def: "An autosomal recessive disease characterized by the association of renal distal tubular acidosis with sensorineural hearing loss. Distal renal tubular acidosis is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification." []
synonym: "Autosomal recessive renal tubular acidosis with progressive nerve deafness" [UniProt]
synonym: "Distal renal tubular acidosis with deafness" [UniProt]
synonym: "Renal tubular acidosis with progressive nerve deafness" [UniProt]
synonym: "RTA with progressive nerve deafness" [UniProt]
xref: MedGen:C0403554
xref: MeSH:D000141
xref: MeSH:D006319
xref: MIM:267300 "phenotype"
[Term]
id: DI-01496
name: Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
def: "An autosomal recessive disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification." []
synonym: "Autosomal recessive distal RTA" [UniProt]
synonym: "Distal renal tubular acidosis with late-onset sensorineural hearing loss" [UniProt]
synonym: "Distal renal tubular acidosis with preserved hearing" [UniProt]
xref: MedGen:C1864498
xref: MedGen:C1864499
xref: MeSH:D000141
xref: MIM:602722 "phenotype"
[Term]
id: DI-01497
name: DMGDH deficiency
def: "Disorder characterized by fish odor, muscle fatigue with increased serum creatine kinase. Biochemically it is characterized by an increase of N,N-dimethylglycine (DMG) in serum and urine." []
xref: MedGen:C1853892
xref: MIM:605850 "phenotype"
[Term]
id: DI-01498
name: Beta-thalassemia, dominant, inclusion body type
def: "An autosomal dominant form of beta thalassemia characterized by moderate anemia, lifelong jaundice, cholelithiasis and splenomegaly, marked morphologic changes in the red cells, erythroid hyperplasia of the bone marrow with increased numbers of multinucleate red cell precursors, and the presence of large inclusion bodies in the normoblasts, both in the marrow and in the peripheral blood after splenectomy." []
synonym: "Beta thalassemia dominant inclusion body type" [UniProt]
synonym: "Dyserythropoietic anemia congenital Irish or Weatherall type" [UniProt]
xref: MedGen:C1858990
xref: MeSH:D000742
xref: MeSH:D017086
xref: MIM:603902 "phenotype"
[Term]
id: DI-01499
name: Dominant nonimmune chronic idiopathic neutropenia of adults
def: "Relatively mild form of neutropenia diagnosed in adults, but predisposing to leukemia in a subset of patients." []
xref: MedGen:C1842930
xref: MIM:607847 "phenotype"
[Term]
id: DI-01500
name: Dominantly inherited venous malformations
def: "An error of vascular morphogenesis characterized by dilated, serpiginous channels." []
xref: MedGen:C1838437
xref: MIM:600195 "phenotype"
[Term]
id: DI-01501
name: Donnai-Barrow syndrome
def: "An autosomal recessive syndrome characterized by complete or partial agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, sensorineural hearing loss, developmental delay, and proteinuria. There is variability in the expression of some features, such as diaphragmatic hernia, corpus callosum anomalies and proteinuria." []
synonym: "DBS/FOAR syndrome" [UniProt]
synonym: "Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria" [UniProt]
synonym: "Facio-oculo-acoustico-renal syndrome" [UniProt]
synonym: "Faciooculoacousticorenal syndrome" [UniProt]
synonym: "FOAR syndrome" [UniProt]
xref: MedGen:C1857277
xref: MeSH:D006319
xref: MeSH:D015499
xref: MeSH:D061085
xref: MeSH:D065630
xref: MIM:222448 "phenotype"
[Term]
id: DI-01502
name: Orthostatic hypotension 1
def: "A form of orthostatic hypotension due to congenital dopamine beta- hydroxylase deficiency. Orthostatic hypotension, also known as postural hypotension, is a finding defined as a 20-mm Hg decrease in systolic pressure or a 10-mm Hg decrease in diastolic pressure occurring 3 minutes after a person has risen from supine to standing. Symptoms include dizziness, blurred vision, and sometimes syncope. ORTHYP1 is an autosomal recessive condition apparent from infancy or early childhood and characterized by low plasma and urinary levels of norepinephrine and epinephrine, and episodic hypoglycemia." []
synonym: "DBH deficiency" [UniProt]
synonym: "Dopamine beta-hydroxylase deficiency" [UniProt]
synonym: "Noradrenaline deficiency" [UniProt]
synonym: "Norepinephrine deficiency" [UniProt]
xref: MedGen:C0342687
xref: MeSH:D007024
xref: MIM:223360 "phenotype"
[Term]
id: DI-01503
name: Dowling-Degos disease 1
def: "An autosomal dominant genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails." []
synonym: "DDD" [UniProt]
synonym: "Reticular pigment anomaly of flexures" [UniProt]
xref: MedGen:C0406811
xref: MeSH:D017444
xref: MeSH:D017495
xref: MIM:179850 "phenotype"
[Term]
id: DI-01504
name: Doyne honeycomb retinal dystrophy
def: "An autosomal dominant, progressive, ocular disorder characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium. With age, drusen increase in size and number, and eventually cause visual symptoms, including decreased visual acuity, metamorphopsia, photophobia, and paracentral scotoma." []
synonym: "Doyne honeycomb degeneration of retina" [UniProt]
synonym: "Drusen, radial, autosomal dominant" [UniProt]
synonym: "Malattia leventinese" [UniProt]
synonym: "ML" [UniProt]
synonym: "MLVT" [UniProt]
xref: MedGen:C1832174
xref: MeSH:D015593
xref: MIM:126600 "phenotype"
[Term]
id: DI-01505
name: Acromesomelic dysplasia 2B
def: "A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD2B is an autosomal recessive form characterized by acromesomelic limb shortening with severe reduction or absence of the fibula, and severe hand and feet abnormalities including complex brachydactyly." []
synonym: "Du Pan syndrome" [UniProt]
synonym: "DUPANS" [UniProt]
synonym: "Fibular hypoplasia and complex brachydactyly" [UniProt]
xref: MedGen:C1856738
xref: MeSH:D059327
xref: MIM:228900 "phenotype"
[Term]
id: DI-01506
name: Duane retraction syndrome 2
def: "A form of Duane retraction syndrome, a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction or both, narrowing of the palpebral fissure, and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision." []
xref: MedGen:C0751083
xref: MeSH:D004370
xref: MIM:604356 "phenotype"
[Term]
id: DI-01507
name: Duane-radial ray syndrome
def: "Disorder characterized by the association of forearm malformations with Duane retraction syndrome." []
synonym: "Okihiro syndrome" [UniProt]
xref: MedGen:C1623209
xref: MIM:607323 "phenotype"
[Term]
id: DI-01508
name: Dubin-Johnson syndrome
def: "Autosomal recessive disorder characterized by conjugated hyperbilirubinemia, an increase in the urinary excretion of coproporphyrin isomer I, deposition of melanin-like pigment in hepatocytes, and prolonged retention of sulfobromophthalein, but otherwise normal liver function." []
xref: MedGen:C0022350
xref: MIM:237500 "phenotype"
[Term]
id: DI-01509
name: Duchenne muscular dystrophy
def: "Most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment." []
xref: MedGen:C0013264
xref: MIM:310200 "phenotype"
[Term]
id: DI-01510
name: Dyschromatosis symmetrica hereditaria
def: "An autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the face and the dorsal parts of the hands and feet, that appear in infancy or early childhood." []
synonym: "DSH1" [UniProt]
synonym: "Dyschromatosis symmetrica hereditaria 1" [UniProt]
synonym: "Reticulate acropigmentation of Dohi" [UniProt]
synonym: "Symmetric dyschromatosis of the extremities" [UniProt]
xref: MedGen:C0406775
xref: MeSH:D010859
xref: MIM:127400 "phenotype"
[Term]
id: DI-01511
name: Dyslexia 2
def: "A relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability." []
synonym: "Specific reading disability type 2" [UniProt]
xref: MedGen:C1838436
xref: MIM:600202 "phenotype"
[Term]
id: DI-01512
name: Dyssegmental dysplasia Silverman-Handmaker type
def: "The dyssegmental dysplasias are rare, autosomal recessive skeletal dysplasias with anisospondyly and micromelia. There are two recognized types: the severe, lethal DDSH and the milder Rolland-Desbuquois form. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocoele. The endochondral growth plate is short, the calcospherites (which are spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage." []
xref: MedGen:C0432208
xref: MedGen:C1857100
xref: MIM:224410 "phenotype"
[Term]
id: DI-01513
name: Early-onset hypertension with severe exacerbation in pregnancy
def: "Inheritance is autosomal dominant. The disease is characterized by the onset of severe hypertension before the age of 20, and by suppression of aldosterone secretion." []
xref: MedGen:C1854631
xref: MeSH:D006973
xref: MIM:605115 "phenotype"
[Term]
id: DI-01514
name: Congenital myopathy 5 with cardiomyopathy
def: "An autosomal recessive, early-onset muscular disorder characterized by dilated cardiomyopathy, delayed motor development with generalized muscle weakness predominantly affecting proximal and distal lower limbs. Skeletal muscle biopsies show minicore-like lesions with mitochondrial depletion and sarcomere disorganization, centralized nuclei, and type 1 fiber predominance. Dystrophic changes become apparent in the second decade. Cardiac muscle biopsies show disruption of myocardial architecture, nuclear hypertrophy, and endomysial fibrosis. Sudden death may occurr due to cardiomyopathy." []
synonym: "Early-onset myopathy with fatal cardiomyopathy" [UniProt]
synonym: "EOMFC" [UniProt]
synonym: "Myopathy, early-onset, with fatal cardiomyopathy" [UniProt]
synonym: "Salih myopathy" [UniProt]
synonym: "SALMY" [UniProt]
xref: MedGen:C2673677
xref: MeSH:D009135
xref: MeSH:D009202
xref: MIM:611705 "phenotype"
[Term]
id: DI-01517
name: Ehlers-Danlos syndrome, spondylodysplastic type, 3
def: "A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD3 is an autosomal recessive form characterized by a generalized skeletal dysplasia involving mainly the spine and striking clinical abnormalities of the hands, in addition to classic features of Ehlers-Danlos syndrome. Clinical features include postnatal growth retardation, moderate short stature, protuberant eyes with bluish sclerae, hands with finely wrinkled palms, atrophy of the thenar muscles, and tapering fingers. Radiologic features include mild to moderate platyspondyly, mild to moderate osteopenia of the spine, small ileum, flat proximal femoral epiphyses, short, wide femoral necks, and broad metaphyses (elbows, knees, wrists, and interphalangeal joints)." []
synonym: "Ehlers-Danlos syndrome-like spondylocheirodysplasia" [UniProt]
synonym: "SCD-EDS" [UniProt]
xref: MedGen:C2676510
xref: MeSH:D004535
xref: MIM:612350 "phenotype"
[Term]
id: DI-01518
name: Eiken syndrome
def: "An autosomal recessive skeletal dysplasia characterized by severely retarded ossification, principally of the epiphyses, pelvis, hands and feet, as well as by abnormal modeling of the bones in hands and feet, abnormal persistence of cartilage in the pelvis and mild growth retardation." []
synonym: "Bone modeling defect of hands and feet" [UniProt]
synonym: "Eiken skeletal dysplasia" [UniProt]
xref: MedGen:C1838779
xref: MeSH:D010009
xref: MIM:600002 "phenotype"
[Term]
id: DI-01519
name: Elejalde syndrome
def: "Autosomal recessive condition characterized by skin hypopigmentation, the presence of large clumps of pigment in hair shafts, silvery-gray hair, accumulation of melanosomes in melanocytes and primary neurological abnormalities. Elejalde syndrome may be the same entity as Griscelli syndrome type I." []
synonym: "Elejalde disease" [UniProt]
synonym: "Neuroectodermal melanolysosomal disease" [UniProt]
xref: MedGen:C1850466
xref: MeSH:D010859
xref: MeSH:D020752
xref: MIM:256710 "phenotype"
[Term]
id: DI-01520
name: Emery-Dreifuss muscular dystrophy 2, autosomal dominant
def: "A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects." []
synonym: "Autosomal dominant Emery-Dreifuss muscular dystrophy" [UniProt]
synonym: "Cardiomyopathy, dilated, with quadriceps myopathy" [UniProt]
synonym: "EMD2" [UniProt]
synonym: "Hauptmann-Thannhauser muscular dystrophy" [UniProt]
synonym: "LGMD1B" [UniProt]
synonym: "Limb-girdle muscular dystrophy 1B" [UniProt]
synonym: "Muscular dystrophy with early contractures and cardiomyopathy autosomal dominant" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 1B" [UniProt]
synonym: "Muscular dystrophy, proximal, type 1B" [UniProt]
synonym: "Scapuloilioperoneal atrophy with cardiopathy" [UniProt]
xref: MedGen:C0410190
xref: MeSH:D020389
xref: MIM:181350 "phenotype"
[Term]
id: DI-01522
name: Mitochondrial DNA depletion syndrome 8A
def: "A disorder due to mitochondrial dysfunction characterized by various combinations of neonatal hypotonia, neurological deterioration, respiratory distress, lactic acidosis, and renal tubulopathy." []
synonym: "Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy" [UniProt]
synonym: "Mitochondrial DNA depletion syndrome 8A encephalomyopathic type with renal tubulopathy" [UniProt]
synonym: "Mitochondrial DNA depletion syndrome encephalomyopathic with renal tubulopathy autosomal recessive" [UniProt]
xref: MedGen:C2749861
xref: MedGen:CN187502
xref: MeSH:D017237
xref: MIM:612075 "phenotype"
[Term]
id: DI-01523
name: Mitochondrial DNA depletion syndrome 5
def: "A disorder due to mitochondrial dysfunction. It is characterized by infantile onset of hypotonia, neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, variable renal tubular dysfunction, and mild methylmalonic aciduria in some patients." []
synonym: "Encephalomyopathic mitochondrial DNA depletion syndrome with or without methylmalonic aciduria" [UniProt]
synonym: "Mitochondrial DNA depletion syndrome 5 encephalomyopathic with or without methylmalonic aciduria" [UniProt]
synonym: "Mitochondrial DNA depletion syndrome encephalomyopathic form with or without methylmalonic aciduria autosomal recessive SUCLA2-related" [UniProt]
xref: MedGen:C2749864
xref: MeSH:D017237
xref: MIM:612073 "phenotype"
[Term]
id: DI-01524
name: Enchondromatosis multiple
def: "A condition characterized by multiple formation of enchondromas, benign neoplasms derived from mesodermal cells that form cartilage. Enchondromas remain within the substance of a cartilage or bone. Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma." []
synonym: "Maffucci disease" [UniProt]
synonym: "Ollier disease" [UniProt]
synonym: "Osteochondromatosis" [UniProt]
xref: MedGen:C0013366
xref: MedGen:C0014084
xref: MedGen:C0206641
xref: MedGen:C3463923
xref: MeSH:D018210
xref: MIM:166000 "phenotype"
[Term]
id: DI-01525
name: Endocrine-cerebroosteodysplasia
def: "Previously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems." []
xref: MedGen:C2675227
xref: MIM:612651 "phenotype"
[Term]
id: DI-01526
name: Endometrial cancer
def: "A malignancy of endometrium, the mucous lining of the uterus. Most endometrial cancers are adenocarcinomas, cancers that begin in cells that make and release mucus and other fluids." []
xref: MedGen:C0476089
xref: MeSH:D016889
xref: MIM:608089 "phenotype"
[Term]
id: DI-01527
name: Enhanced S cone syndrome
def: "Autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. ESCS is also associated with visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration." []
xref: MedGen:C0339541
xref: MedGen:C1849394
xref: MIM:268100 "phenotype"
[Term]
id: DI-01528
name: Enterokinase deficiency
def: "Life-threatening intestinal malabsorption disorder characterized by diarrhea and failure to thrive." []
synonym: "Enteropeptidase deficiency" [UniProt]
xref: MedGen:C0268416
xref: MIM:226200 "phenotype"
[Term]
id: DI-01529
name: Eosinophil peroxidase deficiency
def: "A rare abnormality without clinical symptoms characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix in eosinophils." []
synonym: "Partial eosinophil peroxidase deficiency" [UniProt]
synonym: "Peroxidase and phospholipid deficiency in eosinophils" [UniProt]
synonym: "Presentey anomaly" [UniProt]
xref: MedGen:C1850000
xref: MeSH:D007960
xref: MIM:261500 "phenotype"
[Term]
id: DI-01531
name: Epidermodysplasia verruciformis 1
def: "A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV1 inheritance is autosomal recessive." []
xref: MedGen:C0014522
xref: MeSH:D004819
xref: MIM:226400 "phenotype"
[Term]
id: DI-01532
name: Epidermolysis bullosa simplex 5C, with pyloric atresia
def: "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. EBS5C is an autosomal recessive disorder characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy." []
synonym: "Epidermolysis bullosa simplex with pyloric atresia" [UniProt]
xref: MedGen:C2677349
xref: MeSH:D004820
xref: MIM:612138 "phenotype"
[Term]
id: DI-01533
name: Developmental and epileptic encephalopathy 9
def: "A condition characterized by seizure with onset in infancy or early childhood, cognitive impairment, and delayed development of variable severity in some patients. Additional features include autistic signs and psychosis. The disorder is sex-limited, with the phenotype being restricted to females." []
synonym: "EFMR" [UniProt]
synonym: "EIEE9" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 9" [UniProt]
xref: MedGen:C1848137
xref: MeSH:D008607
xref: MeSH:D013036
xref: MIM:300088 "phenotype"
[Term]
id: DI-01534
name: Galactosemia 3
def: "A form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC3 is an autosomal recessive form caused by galactose epimerase deficiency. It can manifest as benign, peripheral form with mild symptoms and enzymatic deficiency in circulating blood cells only. A second form, known as generalized epimerase deficiency, is characterized by undetectable levels of enzyme activity in all tissues and severe clinical features, including restricted growth and intellectual disability." []
synonym: "Galactose epimerase deficiency" [UniProt]
synonym: "Galactosemia III" [UniProt]
synonym: "GALE deficiency" [UniProt]
synonym: "UDP-galactose-4-epimerase deficiency" [UniProt]
xref: MedGen:C0751161
xref: MeSH:D005693
xref: MIM:230350 "phenotype"
[Term]
id: DI-01535
name: Corneal dystrophy, epithelial basement membrane
def: "A bilateral anterior corneal dystrophy characterized by grayish epithelial fingerprint lines, geographic map-like lines, and dots (or microcysts) on slit-lamp examination. Pathologic studies show abnormal, redundant basement membrane and intraepithelial lacunae filled with cellular debris." []
synonym: "Anterior basement membrane corneal dystrophy" [UniProt]
synonym: "Cogan corneal dystrophy" [UniProt]
synonym: "Map-dot-fingerprint type corneal dystrophy" [UniProt]
synonym: "Microcystic corneal dystrophy" [UniProt]
xref: MedGen:C0521723
xref: MeSH:D003317
xref: MIM:121820 "phenotype"
[Term]
id: DI-01536
name: Multiple pterygium syndrome, Escobar variant
def: "Non-lethal form of arthrogryposis multiplex congenita. It is an autosomal recessive condition characterized by excessive webbing (pterygia), congenital contractures (arthrogryposis), and scoliosis. Variable other features include intrauterine death, congenital respiratory distress, short stature, faciocranial dysmorphism, ptosis, low-set ears, arachnodactyly and cryptorchism in males. Congenital contractures are common and may be caused by reduced fetal movements at sensitive times of development. Possible causes of decreased fetal mobility include space constraints such as oligohydramnion, drugs, metabolic conditions or neuromuscular disorders including myasthenia gravis." []
synonym: "Escobar syndrome" [UniProt]
synonym: "Multiple pterygium syndrome" [UniProt]
synonym: "Multiple pterygium syndrome, non-lethal type" [UniProt]
synonym: "Nonlethal type multiple pterygium syndrome" [UniProt]
synonym: "Pterygium colli syndrome" [UniProt]
synonym: "Pterygium syndrome" [UniProt]
synonym: "Pterygium universale" [UniProt]
xref: MedGen:CN031762
xref: MIM:265000 "phenotype"
[Term]
id: DI-01537
name: Esophageal cancer
def: "A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage." []
synonym: "Aerodigestive tract cancer" [UniProt]
synonym: "ESCC" [UniProt]
synonym: "Esophageal squamous cell carcinoma" [UniProt]
synonym: "Gastric cardia adenocarcinoma" [UniProt]
xref: MedGen:C0152018
xref: MedGen:C0279626
xref: MedGen:C2751126
xref: MedGen:C3149253
xref: MedGen:C3149254
xref: MedGen:C3149255
xref: MeSH:D004938
xref: MIM:133239 "phenotype"
[Term]
id: DI-01538
name: Thrombocythemia 1
def: "A myeloproliferative disorder characterized by excessive platelet production, resulting in increased numbers of circulating platelets. It can be associated with spontaneous hemorrhages and thrombotic episodes." []
synonym: "Essential thrombocythemia" [UniProt]
synonym: "Thrombocytosis 1" [UniProt]
xref: MedGen:C0040028
xref: MedGen:C3277671
xref: MeSH:D013920
xref: MIM:187950 "phenotype"
[Term]
id: DI-01539
name: Ethylmalonic encephalopathy
def: "Autosomal recessive disorder characterized by neurodevelopmental delay and regression, recurrent petechiae, acrocyanosis, diarrhea, leading to death in the first decade of life. It is also associated with persistent lactic acidemia and ethylmalonic and methylsuccinic aciduria." []
xref: MedGen:C1865349
xref: MIM:602473 "phenotype"
[Term]
id: DI-01540
name: Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis
def: "Patients present with pancreatic insufficiency, intestinal malabsorption, failure to thrive, and anemia soon after birth." []
xref: MedGen:C2675184
xref: MIM:612714 "phenotype"
[Term]
id: DI-01541
name: Factor VII deficiency
def: "A hemorrhagic disease with variable presentation. The clinical picture can be very severe, with the early occurrence of intracerebral hemorrhages or repeated hemarthroses, or, in contrast, moderate with cutaneous-mucosal hemorrhages (epistaxis, menorrhagia) or hemorrhages provoked by a surgical intervention. Finally, numerous subjects are completely asymptomatic despite very low factor VII levels." []
synonym: "Congenital proconvertin deficiency" [UniProt]
synonym: "F7 deficiency" [UniProt]
synonym: "Factor 7 deficiency" [UniProt]
synonym: "Hypoproconvertinemia" [UniProt]
xref: MedGen:C0015503
xref: MeSH:D005168
xref: MIM:227500 "phenotype"
[Term]
id: DI-01542
name: Factor XI deficiency
def: "A hemorrhagic disease characterized by reduced levels and activity of factor XI resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. Patients usually do not present spontaneous bleeding but women can present with menorrhagia. Hemorrhages are usually moderate." []
synonym: "F11 deficiency" [UniProt]
synonym: "Factor 11 deficiency" [UniProt]
synonym: "Hemophilia C" [UniProt]
synonym: "Plasma thromboplastin antecedent deficiency" [UniProt]
synonym: "PTA deficiency" [UniProt]
synonym: "Rosenthal factor deficiency" [UniProt]
synonym: "Rosenthal syndrome" [UniProt]
xref: MedGen:C0015523
xref: MeSH:D005173
xref: MIM:612416 "phenotype"
[Term]
id: DI-01543
name: Factor XIII subunit A deficiency
def: "An autosomal recessive hematologic disorder characterized by a life- long bleeding tendency, impaired wound healing and spontaneous abortion in affected women." []
synonym: "F13 deficiency type 2" [UniProt]
synonym: "Type II F13 deficiency" [UniProt]
xref: MedGen:C2750514
xref: MeSH:D005177
xref: MIM:613225 "phenotype"
[Term]
id: DI-01544
name: Fabry disease
def: "Rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities." []
xref: MedGen:C0002986
xref: MedGen:C1970820
xref: MIM:301500 "phenotype"
[Term]
id: DI-01545
name: Facioscapulohumeral muscular dystrophy 1
def: "A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles." []
synonym: "Facioscapulohumeral muscular dystrophy" [UniProt]
synonym: "Facioscapulohumeral muscular dystrophy type 1A" [UniProt]
synonym: "FMD" [UniProt]
synonym: "FSHD" [UniProt]
synonym: "FSHD1A" [UniProt]
synonym: "Landouzy-Dejerine muscular dystrophy" [UniProt]
xref: MedGen:C0238288
xref: MedGen:C1834673
xref: MeSH:D020391
xref: MIM:158900 "phenotype"
[Term]
id: DI-01546
name: Factor V and factor VIII combined deficiency 1
def: "A blood coagulation disorder characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, that are caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of normal." []
synonym: "Familial multiple coagulation factor deficiency I" [UniProt]
synonym: "FMFD I" [UniProt]
synonym: "FMFD1" [UniProt]
synonym: "MCFD1" [UniProt]
synonym: "Multiple coagulation factor deficiency 1" [UniProt]
synonym: "Multiple coagulation factor deficiency I" [UniProt]
xref: MedGen:C1856883
xref: MeSH:D025861
xref: MIM:227300 "phenotype"
[Term]
id: DI-01547
name: Familial adenomatous polyposis 1
def: "An autosomal dominant cancer predisposition syndrome characterized by adenomatous polyps of the colon and rectum, but also of upper gastrointestinal tract (ampullary, duodenal and gastric adenomas). This is a viciously premalignant disease with one or more polyps progressing through dysplasia to malignancy in untreated gene carriers with a median age at diagnosis of 40 years." []
synonym: "Adenomatous polyposis of the colon" [UniProt]
synonym: "APC" [UniProt]
synonym: "Familial polyposis of the colon" [UniProt]
synonym: "FPC" [UniProt]
xref: MedGen:C0017097
xref: MedGen:C1868019
xref: MedGen:C2673218
xref: MedGen:C2674616
xref: MedGen:C2713442
xref: MeSH:D011125
xref: MIM:175100 "phenotype"
[Term]
id: DI-01548
name: Advanced sleep phase syndrome, familial, 1
def: "An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms." []
xref: MedGen:C1858496
xref: MeSH:D020178
xref: MIM:604348 "phenotype"
[Term]
id: DI-01549
name: Arrhythmogenic right ventricular dysplasia, familial, 1
def: "A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias." []
synonym: "Arrhythmogenic right ventricular cardiomyopathy 1" [UniProt]
synonym: "ARVC1" [UniProt]
synonym: "Cardiomyopathy right ventricular dilated" [UniProt]
synonym: "UHL anomaly" [UniProt]
xref: MedGen:C0265857
xref: MedGen:C1862511
xref: MedGen:C1862512
xref: MeSH:D019571
xref: MIM:107970 "phenotype"
[Term]
id: DI-01551
name: Arrhythmogenic right ventricular dysplasia, familial, 5
def: "A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias." []
synonym: "Arrhythmogenic right ventricular cardiomyopathy 5" [UniProt]
synonym: "ARVC5" [UniProt]
xref: MedGen:C1858379
xref: MeSH:D019571
xref: MIM:604400 "phenotype"
[Term]
id: DI-01552
name: Arrhythmogenic right ventricular dysplasia, familial, 8
def: "A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias." []
synonym: "Arrhythmogenic right ventricular cardiomyopathy 8" [UniProt]
synonym: "ARVC8" [UniProt]
xref: MedGen:C1843896
xref: MeSH:D019571
xref: MIM:607450 "phenotype"
[Term]
id: DI-01553
name: Arrhythmogenic right ventricular dysplasia, familial, 9
def: "A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias." []
synonym: "Arrhythmogenic right ventricular cardiomyopathy 9" [UniProt]
synonym: "ARVC9" [UniProt]
xref: MedGen:C1836906
xref: MeSH:D019571
xref: MIM:609040 "phenotype"
[Term]
id: DI-01554
name: Arrhythmogenic right ventricular dysplasia, familial, 10
def: "A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias." []
synonym: "Arrhythmogenic right ventricular cardiomyopathy 10" [UniProt]
synonym: "ARVC10" [UniProt]
xref: MedGen:C1857777
xref: MeSH:D019571
xref: MIM:610193 "phenotype"
[Term]
id: DI-01555
name: Arrhythmogenic right ventricular dysplasia, familial, 11
def: "A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias." []
synonym: "Arrhythmogenic right ventricular cardiomyopathy 11" [UniProt]
synonym: "ARVC11" [UniProt]
xref: MedGen:C1864850
xref: MeSH:D019571
xref: MIM:610476 "phenotype"
[Term]
id: DI-01556
name: Arrhythmogenic right ventricular dysplasia, familial, 12
def: "A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias." []
synonym: "Arrhythmogenic right ventricular cardiomyopathy 12" [UniProt]
synonym: "ARVC12" [UniProt]
xref: MedGen:C1969081
xref: MeSH:D019571
xref: MIM:611528 "phenotype"
[Term]
id: DI-01557
name: Atrial standstill 1
def: "A rare arrhythmia characterized by the absence of electrical and mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia, the absence of P waves, and a junctional narrow complex escape rhythm." []
synonym: "Atrial cardiomyopathy with heart block" [UniProt]
synonym: "Familial cardiomyopathy with conduction disturbance" [UniProt]
xref: MedGen:C1838539
xref: MeSH:D006327
xref: MeSH:D009202
xref: MIM:108770 "phenotype"
[Term]
id: DI-01558
name: Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome
def: "An inherited cancer predisposition syndrome characterized by an increased risk of developing malignant melanoma and/or pancreatic cancer. Mutation carriers within families may develop either or both types of cancer." []
synonym: "Melanoma-pancreatic cancer syndrome" [UniProt]
xref: MedGen:C1838547
xref: MeSH:D009386
xref: MIM:606719 "phenotype"
[Term]
id: DI-01559
name: Breast-ovarian cancer, familial, 1
def: "A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate." []
synonym: "Breast cancer familial 1" [UniProt]
synonym: "Ovarian cancer familial 1" [UniProt]
xref: MedGen:C2676676
xref: MedGen:C2676677
xref: MedGen:C2676678
xref: MeSH:D001943
xref: MeSH:D010051
xref: MIM:604370 "phenotype"
[Term]
id: DI-01560
name: Immunodeficiency 116
def: "An autosomal recessive immunologic defect characterized by absence of CD8+ cells, leading to recurrent bacterial infections." []
synonym: "CD8 deficiency, familial" [UniProt]
xref: MedGen:C1837065
xref: MeSH:D007153
xref: MIM:608957 "phenotype"
[Term]
id: DI-01561
name: Familial cold autoinflammatory syndrome 1
def: "A rare autosomal dominant systemic inflammatory disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold. Rarely, some patients may also develop late-onset renal amyloidosis." []
synonym: "CAPS1" [UniProt]
synonym: "Cold hypersensitivity" [UniProt]
synonym: "Cryopyrin-associated periodic syndrome 1" [UniProt]
synonym: "Familial cold urticaria" [UniProt]
synonym: "Familial cold-induced autoinflammatory syndrome" [UniProt]
synonym: "FCAS" [UniProt]
synonym: "FCU" [UniProt]
xref: MedGen:C0343068
xref: MeSH:D056587
xref: MIM:120100 "phenotype"
[Term]
id: DI-01562
name: Familial cold autoinflammatory syndrome 2
def: "A rare autosomal dominant systemic inflammatory disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold." []
xref: MedGen:C2673198
xref: MeSH:D056587
xref: MIM:611762 "phenotype"
[Term]
id: DI-01563
name: Pituitary hormone deficiency, combined, 1
def: "Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD1 is characterized by pleiotropic deficiencies of growth hormone, prolactin and thyroid-stimulating hormone, while the production of adrenocorticotropic hormone, luteinizing hormone, and follicle-stimulating hormone are preserved. In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen. Some cases present with severe intellectual disability along with short stature." []
xref: MedGen:C2751608
xref: MeSH:D007018
xref: MIM:613038 "phenotype"
[Term]
id: DI-01564
name: Cylindromatosis, familial
def: "A disorder characterized by multiple skin tumors that develop from skin appendages, such as hair follicles and sweat glands. Affected individuals typically develop large numbers of tumors called cylindromas that arise predominantly in hairy parts of the body with approximately 90% on the head and neck. In severely affected individuals, cylindromas may combine into a confluent mass which may ulcerate or become infected (turban tumor syndrome). Individuals with familial cylindromatosis occasionally develop other types of tumors including spiradenomas that begin in sweat glands, and trichoepitheliomas arising from hair follicles." []
synonym: "Ancell-Spiegler cylindromas" [UniProt]
synonym: "Dermal eccrine cylindromatosis" [UniProt]
synonym: "Turban tumor syndrome" [UniProt]
xref: MedGen:C1305968
xref: MedGen:C1851526
xref: MeSH:D009386
xref: MeSH:D012878
xref: MIM:132700 "phenotype"
[Term]
id: DI-01565
name: Hyperthyroxinemia, familial dysalbuminemic
def: "A disorder characterized by abnormally elevated levels of total serum thyroxine (T4) in euthyroid patients. It is due to abnormal serum albumin that binds T4 with enhanced affinity." []
synonym: "Bisalbuminemia" [UniProt]
xref: MedGen:C0342185
xref: MeSH:D050010
xref: MIM:615999 "phenotype"
[Term]
id: DI-01566
name: Neuropathy, hereditary sensory and autonomic, 3
def: "A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN3 patients manifest a variety of symptoms such as alacrima, decreased taste, decreased sensitivity to pain and temperature, vasomotor instability, hypoactive or absent deep tendon reflexes, vomiting crises, and gastrointestinal dysfunction." []
synonym: "Familial dysautonomia" [UniProt]
synonym: "FD" [UniProt]
synonym: "Hereditary sensory and autonomic neuropathy type III" [UniProt]
synonym: "HSAN III" [UniProt]
synonym: "HSN III" [UniProt]
synonym: "Riley-Day syndrome" [UniProt]
xref: MedGen:C0013364
xref: MeSH:D004402
xref: MIM:223900 "phenotype"
[Term]
id: DI-01567
name: Encephalopathy, familial, with neuroserpin inclusion bodies
def: "A neurodegenerative disease clinically characterized by dementia. Additional features include intellectual decline, psychic seizures, progressive myoclonic epilepsy, and cerebral atrophy. Histologically, it is characterized by the presence of eosinophilic inclusion bodies (called Collins bodies) throughout the deeper layers of the cerebral cortex, leading to neuronal death." []
synonym: "Familial encephalopathy with Collins bodies" [UniProt]
xref: MedGen:C1858680
xref: MeSH:D020271
xref: MIM:604218 "phenotype"
[Term]
id: DI-01568
name: Familial expansile osteolysis
def: "Rare autosomal dominant bone disorder characterized by focal areas of increased bone remodeling. The osteolytic lesions develop usually in the long bones during early adulthood. FEO is often associated with early-onset deafness and loss of dentition." []
xref: MedGen:C0432292
xref: MIM:174810 "phenotype"
[Term]
id: DI-01569
name: Aromatase excess syndrome
def: "An autosomal dominant disorder characterized by increased extraglandular aromatization of steroids that presents with heterosexual precocity in males and isosexual precocity in females." []
synonym: "Familial gynecomastia" [UniProt]
synonym: "Familial gynecomastia due to increased aromatase activity" [UniProt]
synonym: "Hereditary gynecomastia" [UniProt]
synonym: "Increased aromatase activity" [UniProt]
xref: MedGen:C1841762
xref: MeSH:D006177
xref: MIM:139300 "phenotype"
[Term]
id: DI-01570
name: Migraine, familial hemiplegic, 1
def: "A subtype of migraine with aura associated with ictal hemiparesis and, in some families, cerebellar ataxia and atrophy. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking." []
synonym: "FHM" [UniProt]
synonym: "MHP1" [UniProt]
synonym: "Migraine familial hemiplegic with progressive cerebellar ataxia" [UniProt]
xref: MedGen:C1832884
xref: MedGen:C1832894
xref: MedGen:C1832903
xref: MeSH:D020325
xref: MIM:141500 "phenotype"
[Term]
id: DI-01571
name: Migraine, familial hemiplegic, 2
def: "A subtype of migraine with aura associated with hemiparesis in some families. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking." []
synonym: "Familiar basilar migraine" [UniProt]
synonym: "MHP2" [UniProt]
xref: MedGen:C1865322
xref: MedGen:C1865323
xref: MeSH:D020325
xref: MIM:602481 "phenotype"
[Term]
id: DI-01572
name: Migraine, familial hemiplegic, 3
def: "A subtype of migraine associated with transient blindness in some families. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. The two major subtypes are common migraine (migraine without aura) and classic migraine (migraine with aura). Classic migraine is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking." []
synonym: "MHP3" [UniProt]
xref: MedGen:C1864987
xref: MeSH:D020325
xref: MIM:609634 "phenotype"
[Term]
id: DI-01573
name: Hemophagocytic lymphohistiocytosis, familial, 2
def: "A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia." []
synonym: "HLH2" [UniProt]
synonym: "HPLH2" [UniProt]
xref: MedGen:C1863727
xref: MeSH:D051359
xref: MIM:603553 "phenotype"
[Term]
id: DI-01574
name: Hemophagocytic lymphohistiocytosis, familial, 3
def: "A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia." []
synonym: "HLH3" [UniProt]
synonym: "HPLH3" [UniProt]
xref: MedGen:C1837174
xref: MeSH:D051359
xref: MIM:608898 "phenotype"
[Term]
id: DI-01575
name: Hemophagocytic lymphohistiocytosis, familial, 4
def: "A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia." []
synonym: "HLH4" [UniProt]
synonym: "HPLH4" [UniProt]
xref: MedGen:C1863728
xref: MeSH:D051359
xref: MIM:603552 "phenotype"
[Term]
id: DI-01576
name: Gaze palsy, familial horizontal, with progressive scoliosis, 1
def: "An autosomal recessive neurologic disorder characterized by eye movement abnormalities apparent from birth, childhood-onset progressive scoliosis, distinctive brainstem malformation and defective crossing of some brainstem neuronal pathways." []
synonym: "Familial horizontal gaze palsy with progressive scoliosis" [UniProt]
synonym: "HGPPS" [UniProt]
xref: MedGen:C1846496
xref: MeSH:D012600
xref: MeSH:D015835
xref: MIM:607313 "phenotype"
[Term]
id: DI-01577
name: Hypercholesterolemia, familial, 1
def: "A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL1 inheritance is autosomal dominant." []
synonym: "FH" [UniProt]
synonym: "FHC" [UniProt]
synonym: "Hyper-low-density-lipoproteinemia" [UniProt]
synonym: "Hypercholesterolemic xanthomatosis, familial" [UniProt]
synonym: "Hyperlipoproteinemia, type II" [UniProt]
synonym: "Hyperlipoproteinemia, type IIA" [UniProt]
synonym: "LDL receptor disorder" [UniProt]
xref: MedGen:C0020445
xref: MedGen:C0745103
xref: MedGen:C3276941
xref: MeSH:D006938
xref: MIM:143890 "phenotype"
[Term]
id: DI-01578
name: Hypercholesterolemia, familial, 3
def: "A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL3 inheritance is autosomal dominant." []
synonym: "HCHOLA3" [UniProt]
synonym: "Hypercholesterolemia, autosomal dominant, 3" [UniProt]
xref: MedGen:C1863551
xref: MedGen:C3276239
xref: MeSH:D006937
xref: MIM:603776 "phenotype"
[Term]
id: DI-01579
name: Hyperinsulinemic hypoglycemia, familial, 1
def: "A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF1 is the most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF1 inheritance can be autosomal dominant or autosomal recessive." []
synonym: "Congenital hyperinsulinism" [UniProt]
synonym: "Hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia" [UniProt]
synonym: "Hyperinsulinemic hypoglycemia of infancy" [UniProt]
synonym: "Hyperinsulinism, congenital" [UniProt]
synonym: "Hyperinsulinism, familial, with pancreatic nesidioblastosis" [UniProt]
synonym: "Nesidioblastosis of pancreas" [UniProt]
synonym: "Persistent hyperinsulinemic hypoglycemia of infancy" [UniProt]
synonym: "PHHI" [UniProt]
xref: MedGen:C1257959
xref: MeSH:D044903
xref: MIM:256450 "phenotype"
[Term]
id: DI-01580
name: Hyperinsulinemic hypoglycemia, familial, 2
def: "A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF2 is a common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF2 inheritance can be autosomal dominant or autosomal recessive." []
synonym: "Congenital hyperinsulinism" [UniProt]
synonym: "Hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia" [UniProt]
synonym: "Hyperinsulinism, congenital" [UniProt]
synonym: "Hyperinsulinism, neonatal" [UniProt]
synonym: "Nesidioblastosis" [UniProt]
synonym: "Persistent hyperinsulinemic hypoglycemia of infancy" [UniProt]
synonym: "PHHI" [UniProt]
xref: MedGen:C2931833
xref: MeSH:D044903
xref: MIM:601820 "phenotype"
[Term]
id: DI-01581
name: Hyperinsulinemic hypoglycemia, familial, 3
def: "A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF3 clinical features include loss of consciousness due to hypoglycemia, hypoglycemic coma, mental retardation due to repeated episodes of hypoglycemia, and seizures. HHF3 inheritance is autosomal dominant." []
xref: MedGen:C1865290
xref: MeSH:D006946
xref: MeSH:D007003
xref: MIM:602485 "phenotype"
[Term]
id: DI-01582
name: Hyperinsulinemic hypoglycemia, familial, 4
def: "A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF4 clinical features include hypoglycemic coma, mental retardation due to repeated episodes of hypoglycemia, and seizures. HHF4 inheritance is autosomal recessive." []
xref: MedGen:C1864948
xref: MeSH:D006946
xref: MeSH:D007003
xref: MIM:609975 "phenotype"
[Term]
id: DI-01583
name: Hyperinsulinemic hypoglycemia, familial, 5
def: "A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF5 clinical features include loss of consciousness due to hypoglycemia and hypoglycemic seizures. HHF5 inheritance is autosomal dominant." []
xref: MedGen:C1864952
xref: MeSH:D006946
xref: MeSH:D007003
xref: MIM:609968 "phenotype"
[Term]
id: DI-01584
name: Hyperinsulinemic hypoglycemia, familial, 7
def: "A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF7 features include exercise-induced hyperinsulinism, loss of consciousness due to hypoglycemia, and hypoglycemic seizures. HHF7 inheritance is autosomal dominant." []
synonym: "Exercise-induced hyperinsulinemic hypoglycemia" [UniProt]
xref: MedGen:C1864902
xref: MeSH:D006946
xref: MeSH:D007003
xref: MIM:610021 "phenotype"
[Term]
id: DI-01585
name: Hyperproinsulinemia
def: "An autosomal dominant condition characterized by elevated levels of serum proinsulin-like material." []
xref: MedGen:C0342283
xref: MeSH:D003920
xref: MIM:616214 "phenotype"
[Term]
id: DI-01586
name: Hypertriglyceridemia 1
def: "A common inherited disorder in which the concentration of very low density lipoprotein (VLDL) is elevated in the plasma. This leads to increased risk of heart disease, obesity, and pancreatitis. Inheritance is autosomal dominant." []
synonym: "Hypertriglyceridemia, familial" [UniProt]
xref: MedGen:C5444012
xref: MeSH:D006953
xref: MIM:145750 "phenotype"
[Term]
id: DI-01587
name: Hypobetalipoproteinemia, familial, 1
def: "A disorder of lipid metabolism characterized by less than 5th percentile age- and sex-specific levels of low density lipoproteins, and dietary fat malabsorption. Clinical presentation may vary from no symptoms to severe gastrointestinal and neurological dysfunction similar to abetalipoproteinemia." []
synonym: "Acanthocytosis with hypobetalipoproteinemia" [UniProt]
synonym: "Familial hypobetalipoproteinemia" [UniProt]
synonym: "FHBL" [UniProt]
synonym: "Normotriglyceridemic hypobetalipoproteinemia" [UniProt]
xref: MedGen:C1862598
xref: MedGen:CN182502
xref: MeSH:D006995
xref: MIM:615558 "phenotype"
[Term]
id: DI-01588
name: Hypocalciuric hypercalcemia, familial 1
def: "A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults." []
synonym: "Familial benign hypercalcemia 1" [UniProt]
synonym: "Familial benign hypocalciuric hypercalcemia 1" [UniProt]
synonym: "FBH1" [UniProt]
synonym: "FBHH1" [UniProt]
synonym: "FHH" [UniProt]
synonym: "FHH1" [UniProt]
synonym: "HHC" [UniProt]
synonym: "Hypocalciuric hypercalcemia type I" [UniProt]
xref: MedGen:C0342637
xref: MedGen:C1809471
xref: MedGen:C1840348
xref: MeSH:D006934
xref: MIM:145980 "phenotype"
[Term]
id: DI-01589
name: Hyperparathyroidism 1
def: "An autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid hyperplasia, adenomas, and carcinomas." []
synonym: "Familial isolated hyperparathyroidism" [UniProt]
synonym: "FIHP" [UniProt]
synonym: "Hyperparathyroidism, familial, isolated, primary" [UniProt]
xref: MedGen:C1840402
xref: MeSH:D049950
xref: MIM:145000 "phenotype"
[Term]
id: DI-01590
name: Hypoparathyroidism, familial isolated, 1
def: "A form of hypoparathyroidism, a disorder characterized by hypocalcemia and hyperphosphatemia due to a deficiency of parathyroid hormone. Clinical features include seizures, tetany and cramps. FIH1 inheritance can be autosomal dominant or recessive." []
xref: MedGen:C1840334
xref: MeSH:D007011
xref: MIM:146200 "phenotype"
[Term]
id: DI-01591
name: Hypercholesterolemia, familial, 2
def: "A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL2 inheritance is autosomal dominant." []
synonym: "Familial ligand-defective apolipoprotein B-100" [UniProt]
synonym: "FDB" [UniProt]
xref: MedGen:C1704417
xref: MedGen:C2931106
xref: MeSH:D006938
xref: MIM:144010 "phenotype"
[Term]
id: DI-01592
name: Familial male precocious puberty
def: "In FMPP the receptor is constitutively activated." []
synonym: "Testotoxicosis" [UniProt]
xref: MedGen:C0342549
xref: MedGen:C2674612
xref: MIM:176410 "phenotype"
[Term]
id: DI-01593
name: Familial multiple endocrine neoplasia type I
def: "Autosomal dominant disorder characterized by tumors of the parathyroid glands, gastro-intestinal endocrine tissue, the anterior pituitary and other tissues. Cutaneous lesions and nervous-tissue tumors can exist. Prognosis in MEN1 patients is related to hormonal hypersecretion by tumors, such as hypergastrinemia causing severe peptic ulcer disease (Zollinger-Ellison syndrome, ZES), primary hyperparathyroidism, and acute forms of hyperinsulinemia." []
xref: MedGen:C0025267
xref: MedGen:C3149237
xref: MIM:131100 "phenotype"
[Term]
id: DI-01594
name: Familial non-Hodgkin lymphoma
def: "Cancer that starts in cells of the lymph system, which is part of the body's immune system. NHLs can occur at any age and are often marked by enlarged lymph nodes, fever and weight loss." []
xref: MedGen:C0024305
xref: MIM:605027 "phenotype"
[Term]
id: DI-01595
name: Lipodystrophy, familial partial, 2
def: "A disorder characterized by the loss of subcutaneous adipose tissue in the lower parts of the body (limbs, buttocks, trunk). It is accompanied by an accumulation of adipose tissue in the face and neck causing a double chin, fat neck, or cushingoid appearance. Adipose tissue may also accumulate in the axillae, back, labia majora, and intraabdominal region. Affected patients are insulin-resistant and may develop glucose intolerance and diabetes mellitus after age 20 years, hypertriglyceridemia, and low levels of high density lipoprotein cholesterol." []
synonym: "Familial partial lipodystrophy Dunnigan type" [UniProt]
synonym: "FPL2" [UniProt]
synonym: "Generalized lipoatrophy associated with diabetes, hepatic steatosis, hypertrophic cardiomyopathy and leukomelanodermic papules" [UniProt]
synonym: "Lipoatrophic diabetes" [UniProt]
synonym: "Lipodystrophy familial of limbs and lower trunk" [UniProt]
synonym: "Lipodystrophy reverse partial" [UniProt]
xref: MedGen:C1720860
xref: MeSH:D052496
xref: MIM:151660 "phenotype"
[Term]
id: DI-01596
name: Lipodystrophy, familial partial, 3
def: "A form of lipodystrophy characterized by marked loss of subcutaneous fat from the extremities. Facial adipose tissue may be increased, decreased or normal. Affected individuals show an increased preponderance of insulin resistance, diabetes mellitus and dyslipidemia." []
synonym: "Familial partial lipodystrophy associated with PPARG mutations" [UniProt]
xref: MedGen:C1720861
xref: MeSH:D052496
xref: MIM:604367 "phenotype"
[Term]
id: DI-01597
name: Familial platelet disorder with associated myeloid malignancy
def: "Autosomal dominant disease characterized by qualitative and quantitative platelet defects, and propensity to develop acute myelogenous leukemia." []
xref: MedGen:C1832388
xref: MIM:601399 "phenotype"
[Term]
id: DI-01598
name: Familial spinal neurofibromatosis
def: "Considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors." []
xref: MedGen:C1834235
xref: MIM:162210 "phenotype"
[Term]
id: DI-01599
name: Fanconi anemia, complementation group A
def: "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair." []
synonym: "Estren-Dameshek variant of Fanconi anemia" [UniProt]
synonym: "Estren-Dameshek variant of Fanconi pancytopenia" [UniProt]
synonym: "FA" [UniProt]
synonym: "Fanconi anemia" [UniProt]
synonym: "Fanconi anemia Estren-Dameshek variant" [UniProt]
xref: MedGen:C0015625
xref: MedGen:C1856796
xref: MedGen:C1856797
xref: MedGen:C3469521
xref: MeSH:D005199
xref: MIM:227650 "phenotype"
[Term]
id: DI-01600
name: Fanconi anemia complementation group B
def: "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Some severe FANCB cases manifest features of VACTERL syndrome with hydrocephalus." []
synonym: "FA2" [UniProt]
synonym: "Fanconi pancytopenia type 2" [UniProt]
xref: MedGen:C1845292
xref: MeSH:D005199
xref: MIM:300514 "phenotype"
[Term]
id: DI-01601
name: Fanconi anemia complementation group D1
def: "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair." []
synonym: "FAD1" [UniProt]
xref: MedGen:C1838457
xref: MeSH:D005199
xref: MIM:605724 "phenotype"
[Term]
id: DI-01602
name: Fanconi anemia complementation group I
def: "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair." []
xref: MedGen:C1836861
xref: MeSH:D005199
xref: MIM:609053 "phenotype"
[Term]
id: DI-01603
name: Fanconi anemia complementation group J
def: "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair." []
xref: MedGen:C1836860
xref: MeSH:D005199
xref: MIM:609054 "phenotype"
[Term]
id: DI-01604
name: Fanconi anemia complementation group N
def: "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair." []
xref: MedGen:C1835817
xref: MeSH:D005199
xref: MIM:610832 "phenotype"
[Term]
id: DI-01605
name: Fanconi-Bickel syndrome
def: "Rare, well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose." []
synonym: "Fanconi syndrome with intestinal malabsorption and galactose intolerance" [UniProt]
synonym: "Glycogen storage disease XI" [UniProt]
synonym: "Glycogenosis Fanconi type" [UniProt]
synonym: "Hepatic glycogenosis with amino aciduria and glucosuria" [UniProt]
synonym: "Hepatic glycogenosis with Fanconi nephropathy" [UniProt]
synonym: "Hepatorenal glycogenosis with renal Fanconi syndrome" [UniProt]
synonym: "Pseudo-phlorizin diabetes" [UniProt]
xref: MedGen:C3495427
xref: MeSH:D006008
xref: MIM:227810 "phenotype"
[Term]
id: DI-01606
name: Farber lipogranulomatosis
def: "An autosomal recessive lysosomal storage disorder characterized by subcutaneous lipid-loaded nodules, excruciating pain in the joints and extremities, and marked accumulation of ceramide in lysosomes. Disease severity is variable. The most severe disease subtype is a rare neonatal form with death occurring before 1 year of age." []
synonym: "AC deficiency" [UniProt]
synonym: "Acid ceramidase deficiency" [UniProt]
synonym: "Ceramidase deficiency" [UniProt]
synonym: "Farber disease" [UniProt]
synonym: "N-laurylsphingosine deacylase deficiency" [UniProt]
xref: MedGen:C0268255
xref: MeSH:D055577
xref: MIM:228000 "phenotype"
[Term]
id: DI-01607
name: Fatal familial insomnia
def: "Autosomal dominant disorder and is characterized by neuronal degeneration limited to selected thalamic nuclei and progressive insomnia." []
xref: MedGen:C0206042
xref: MIM:600072 "phenotype"
[Term]
id: DI-01608
name: Mitochondrial complex IV deficiency, nuclear type 2
def: "An autosomal recessive, severe mitochondrial disorder characterized by hypotonia, global developmental delay, hypertrophic cardiomyopathy, lactic acidosis, gliosis, and neuronal loss in basal ganglia, brainstem and spinal cord. Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure." []
synonym: "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1" [UniProt]
synonym: "CEMCOX1" [UniProt]
synonym: "Cytochrome c oxidase deficiency with fatal infantile cardioencephalomyopathy" [UniProt]
xref: MedGen:C1858424
xref: MeSH:D002312
xref: MeSH:D017237
xref: MeSH:D030401
xref: MIM:604377 "phenotype"
[Term]
id: DI-01609
name: Mitochondrial DNA depletion syndrome 9
def: "A severe disorder due to mitochondrial dysfunction. It is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid." []
synonym: "Fatal infantile lactic acidosis" [UniProt]
synonym: "Mitochondrial DNA depletion syndrome 9 encephalomyopathic type with methylmalonic aciduria" [UniProt]
xref: MedGen:C3151476
xref: MeSH:D000140
xref: MeSH:D017237
xref: MIM:245400 "phenotype"
[Term]
id: DI-01612
name: Feingold syndrome 1
def: "A syndrome characterized by variable combinations of esophageal and duodenal atresias, microcephaly, learning disability, intellectual disability, and limb malformations. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described." []
synonym: "Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum" [UniProt]
synonym: "Microcephaly-oculo-digito-esophageal-duodenal syndrome" [UniProt]
synonym: "MMT syndrome" [UniProt]
synonym: "MODED" [UniProt]
synonym: "Oculodigitoesophagoduodenal syndrome" [UniProt]
synonym: "ODED" [UniProt]
xref: MedGen:C0796068
xref: MeSH:D004380
xref: MeSH:D004933
xref: MeSH:D008831
xref: MeSH:D017880
xref: MIM:164280 "phenotype"
[Term]
id: DI-01613
name: 46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs
def: "A disease characterized by the association of female-to-male sex reversal with dysgenesis of kidneys, adrenals, and lungs." []
synonym: "SERKAL syndrome" [UniProt]
xref: MedGen:C2678492
xref: MeSH:D058531
xref: MIM:611812 "phenotype"
[Term]
id: DI-01614
name: Hypogonadotropic hypogonadism 23 with or without anosmia
def: "A form of hypogonadotropic hypogonadism, a group of disorders characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic- pituitary axis. HH23 male patients have normal sexual differentiation, reduced or absent Leydig cells, reduced or absent spermatogenesis, and absence of spontaneous puberty. Female patients exhibit normal pubertal development and menarche, followed by oligomenorrhea and anovulatory secondary amenorrhea." []
synonym: "Fertile eunuch syndrome" [UniProt]
synonym: "Pasqualini syndrome" [UniProt]
xref: MedGen:C0271582
xref: MeSH:D005058
xref: MIM:228300 "phenotype"
[Term]
id: DI-01615
name: Fetal akinesia deformation sequence 1
def: "A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS1 inheritance is autosomal recessive." []
synonym: "Arthrogryposis multiplex congenita with pulmonary hypoplasia" [UniProt]
synonym: "FADS" [UniProt]
synonym: "Fetal akinesia deformation sequence" [UniProt]
synonym: "Fetal akinesia sequence" [UniProt]
synonym: "Pena-Shokeir syndrome type 1" [UniProt]
xref: MedGen:C1276035
xref: MeSH:D001176
xref: MeSH:D005317
xref: MIM:208150 "phenotype"
[Term]
id: DI-01616
name: FG syndrome 2
def: "FG syndrome (FGS) is an X-linked disorder characterized by intellectual disability, relative macrocephaly, hypotonia and constipation." []
xref: MedGen:C1845902
xref: MIM:300321 "phenotype"
[Term]
id: DI-01617
name: FG syndrome 4
def: "FG syndrome (FGS) is an X-linked disorder characterized by intellectual disability, relative macrocephaly, hypotonia and constipation." []
xref: MedGen:C1845546
xref: MedGen:C3275356
xref: MIM:300422 "phenotype"
[Term]
id: DI-01618
name: Focal cortical dysplasia of Taylor balloon cell type
def: "Subtype of cortical dysplasias linked to chronic intractable epilepsy. Cortical dysplasias display a broad spectrum of structural changes, which appear to result from changes in proliferation, migration, differentiation, and apoptosis of neuronal precursors and neurons during cortical development." []
xref: MedGen:C1846385
xref: MedGen:C1846386
xref: MedGen:C1846388
xref: MedGen:C1846389
xref: MIM:607341 "phenotype"
[Term]
id: DI-01619
name: Focal dermal hypoplasia
def: "A rare congenital ectomesodermal disorder characterized by a combination of skin defects, skeletal abnormalities, and ocular anomalies. Affected individuals have patchy dermal hypoplasia, often in a distribution pattern following the Blaschko lines, and areas of subcutaneous fat herniation or deposition of fat into the dermis. In addition, sparse and brittle hair, hypoplastic nails and papillomas have been described. Skeletal abnormalities usually comprise syndactyly, ectrodactyly, and brachydactyly, and in some cases osteopathia striata has been seen. Patients frequently have ocular anomalies, including microphthalmia/ anophthalmia, coloboma, pigmentary and vascularization defects of the retina. Dental abnormalities are often present." []
synonym: "DHOF" [UniProt]
synonym: "FDH" [UniProt]
synonym: "Goltz Gorlin syndrome" [UniProt]
synonym: "Goltz syndrome" [UniProt]
synonym: "Goltz-Gorlin syndrome" [UniProt]
xref: MedGen:C0016395
xref: MeSH:D005489
xref: MIM:305600 "phenotype"
[Term]
id: DI-01620
name: Focal segmental glomerulosclerosis 1
def: "A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation." []
xref: MedGen:C0017668
xref: MeSH:D005923
xref: MIM:603278 "phenotype"
[Term]
id: DI-01621
name: Focal segmental glomerulosclerosis 2
def: "A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation." []
xref: MedGen:C1858915
xref: MeSH:D005923
xref: MIM:603965 "phenotype"
[Term]
id: DI-01622
name: Focal segmental glomerulosclerosis 3
def: "A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation." []
xref: MedGen:C1842982
xref: MedGen:CN068928
xref: MeSH:D005923
xref: MIM:607832 "phenotype"
[Term]
id: DI-01623
name: Neural tube defects, folate-sensitive
def: "The most common NTDs are open spina bifida (myelomeningocele) and anencephaly." []
xref: MedGen:C1866558
xref: MedGen:C1866559
xref: MIM:601634 "phenotype"
[Term]
id: DI-01624
name: Foveal hypoplasia 1
def: "An isolated form of foveal hypoplasia, a developmental defect of the eye defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Clinical features include absence of foveal pit on optical coherence tomography, absence of foveal hyperpigmentation, absence of foveal avascularity, absence of foveal and macular reflexes, decreased visual acuity, and nystagmus. Anterior segment anomalies and cataract are observed in some FVH1 patients." []
synonym: "Foveal hypoplasia and presenile cataract syndrome" [UniProt]
synonym: "Foveal hypoplasia with or without anterior segment anomalies and/or cataract" [UniProt]
xref: MedGen:C1850994
xref: MedGen:C2931644
xref: MedGen:C3805604
xref: MeSH:D015785
xref: MIM:136520 "phenotype"
[Term]
id: DI-01625
name: Fragile X syndrome
def: "An X-linked dominant disease characterized by moderate to severe intellectual disability, macroorchidism (enlargement of the testicles), large ears, prominent jaw, and high-pitched, jocular speech. The defect in most patients results from an amplification of a CGG repeat region in the FMR1 gene and abnormal methylation." []
synonym: "Marker X syndrome" [UniProt]
synonym: "Martin-Bell syndrome" [UniProt]
xref: MedGen:C0016667
xref: MeSH:D005600
xref: MIM:300624 "phenotype"
[Term]
id: DI-01626
name: Fragile X tremor/ataxia syndrome
def: "An X-linked neurodegenerative disorder characterized by late-onset, progressive cerebellar ataxia and intention tremor followed by cognitive decline." []
xref: MedGen:C1839780
xref: MeSH:D038901
xref: MIM:300623 "phenotype"
[Term]
id: DI-01627
name: Fraser syndrome 1
def: "A form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities." []
xref: MedGen:C0265233
xref: MeSH:D058497
xref: MIM:219000 "phenotype"
[Term]
id: DI-01628
name: Frasier syndrome
def: "Characterized by a slowly progressing nephropathy leading to renal failure in adolescence or early adulthood, male pseudohermaphroditism, and no Wilms tumor. As for histological findings of the kidneys, focal glomerular sclerosis is often observed. There is phenotypic overlap with Denys-Drash syndrome. Inheritance is autosomal dominant." []
xref: MedGen:C0950122
xref: MIM:136680 "phenotype"
[Term]
id: DI-01629
name: Intellectual developmental disorder, X-linked 109
def: "A form of mild to moderate intellectual disability associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior. It is associated with a fragile site on chromosome Xq28. Intellectual disability is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
synonym: "MRX109" [UniProt]
xref: MedGen:C0751157
xref: MedGen:C2752082
xref: MeSH:D038901
xref: MIM:309548 "phenotype"
[Term]
id: DI-01630
name: Friedreich ataxia
def: "Autosomal recessive, progressive degenerative disease characterized by neurodegeneration and cardiomyopathy it is the most common inherited ataxia. The disorder is usually manifest before adolescence and is generally characterized by incoordination of limb movements, dysarthria, nystagmus, diminished or absent tendon reflexes, Babinski sign, impairment of position and vibratory senses, scoliosis, pes cavus, and hammer toe. In most patients, FRDA is due to GAA triplet repeat expansions in the first intron of the frataxin gene. But in some cases the disease is due to mutations in the coding region." []
synonym: "FA" [UniProt]
synonym: "FRDA1" [UniProt]
synonym: "Friedreich ataxia 1" [UniProt]
synonym: "Friedreich ataxia with retained reflexes" [UniProt]
xref: MedGen:C0016719
xref: MedGen:C1847416
xref: MedGen:C1856689
xref: MeSH:D005621
xref: MIM:229300 "phenotype"
[Term]
id: DI-01631
name: Frontometaphyseal dysplasia 1
def: "An X-linked disease characterized by generalized skeletal dysplasia, deafness, and urogenital defects." []
synonym: "FMD" [UniProt]
xref: MedGen:C0265293
xref: MeSH:D010009
xref: MIM:305620 "phenotype"
[Term]
id: DI-01632
name: Frontotemporal dementia
def: "A form of dementia characterized by pathologic finding of frontotemporal lobar degeneration, presenile dementia with behavioral changes, deterioration of cognitive capacities and loss of memory. In some cases, parkinsonian symptoms are prominent. Neuropathological changes include frontotemporal atrophy often associated with atrophy of the basal ganglia, substantia nigra, amygdala. In most cases, protein tau deposits are found in glial cells and/or neurons." []
synonym: "DDPAC" [UniProt]
synonym: "Disinhibition-dementia-parkinsonism-amyotrophy complex" [UniProt]
synonym: "FLDEM" [UniProt]
synonym: "Frontotemporal dementia and parkinsonism linked to chromosome 17" [UniProt]
synonym: "Frontotemporal dementia with parkinsonism" [UniProt]
synonym: "Frontotemporal dementia-amyotrophic lateral sclerosis" [UniProt]
synonym: "Frontotemporal lobar degeneration" [UniProt]
synonym: "Frontotemporal lobar degeneration with TAU inclusions" [UniProt]
synonym: "Frontotemporal lobe dementia" [UniProt]
synonym: "FTD-ALS" [UniProt]
synonym: "FTDP17" [UniProt]
synonym: "FTLD" [UniProt]
synonym: "FTLD with TAU inclusions" [UniProt]
synonym: "MSTD" [UniProt]
synonym: "Multiple system tauopathy with presenile dementia" [UniProt]
synonym: "Pallidopontonigral degeneration" [UniProt]
synonym: "Pick complex" [UniProt]
synonym: "PPND" [UniProt]
synonym: "Wilhelmsen-Lynch disease" [UniProt]
synonym: "WLD" [UniProt]
xref: MedGen:C0338451
xref: MedGen:C0520716
xref: MedGen:C0751072
xref: MedGen:C1838313
xref: MedGen:C2718018
xref: MedGen:C2718305
xref: MeSH:D057180
xref: MIM:600274 "phenotype"
[Term]
id: DI-01633
name: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
def: "A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia (FTD) is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis (ALS) is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. FTDALS7 is an autosomal dominant form characterized by onset of ALS or FTD in adulthood. A few patients may have both phenotypes." []
synonym: "ALS17" [UniProt]
synonym: "Amyotrophic lateral sclerosis 17" [UniProt]
synonym: "Amyotrophic lateral sclerosis, CHMP2B-related" [UniProt]
synonym: "Frontotemporal dementia, chromosome 3-linked" [UniProt]
synonym: "FTD3" [UniProt]
xref: MedGen:C1833296
xref: MeSH:D000690
xref: MeSH:D057174
xref: MIM:600795 "phenotype"
[Term]
id: DI-01634
name: Fructose-1,6-bisphosphatase deficiency
def: "An autosomal recessive metabolic disorder characterized by impaired gluconeogenesis, and episodes of hypoglycemia and metabolic acidosis that can be lethal in newborn infants or young children." []
xref: MedGen:C0016756
xref: MeSH:D015319
xref: MIM:229700 "phenotype"
[Term]
id: DI-01635
name: Fructosuria
def: "Benign defect of intermediary metabolism." []
xref: MedGen:C0268160
xref: MIM:229800 "phenotype"
[Term]
id: DI-01636
name: Corneal dystrophy, Fuchs endothelial, 1
def: "A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition." []
synonym: "Corneal dystrophy Fuchs endothelial early-onset" [UniProt]
synonym: "Fuchs dystrophy" [UniProt]
xref: MedGen:C1850959
xref: MeSH:D005642
xref: MIM:136800 "phenotype"
[Term]
id: DI-01637
name: Fuhrmann syndrome
def: "Distinct limb-malformation disorder characterized also by various degrees of limb aplasia/hypoplasia and joint dysplasia." []
synonym: "Fibular aplasia" [UniProt]
synonym: "Hypoplasia femoral bowing and poly- syn- and oligodactyly" [UniProt]
xref: MedGen:C1856728
xref: MIM:228930 "phenotype"
[Term]
id: DI-01638
name: Fumarase deficiency
def: "A severe autosomal recessive metabolic disorder characterized by early-onset hypotonia, profound psychomotor retardation, and brain abnormalities, such as agenesis of the corpus callosum, gyral defects, and ventriculomegaly. Many patients show neonatal distress, metabolic acidosis, and/or encephalopathy." []
synonym: "Fumaric aciduria" [UniProt]
xref: MedGen:C0342770
xref: MedGen:C2936826
xref: MeSH:D008661
xref: MeSH:D009123
xref: MeSH:D011596
xref: MIM:606812 "phenotype"
[Term]
id: DI-01639
name: Retinitis punctata albescens
def: "A form of fleck retina disease characterized by aggregation of white flecks posteriorly in the retina, causing night blindness and delayed dark adaptation. It differs from fundus albipunctatus in being progressive and evolving to generalized atrophy of the retina." []
xref: MedGen:C1405854
xref: MeSH:D012164
xref: MIM:136880 "phenotype"
[Term]
id: DI-01640
name: Fundus flavimaculatus
def: "Autosomal recessive retinal disorder very similar to Stargardt disease. In contrast to Stargardt disease, FFM is characterized by later onset and slowly progressive course." []
xref: MedGen:C1858080
xref: MIM:248200 "phenotype"
[Term]
id: DI-01641
name: GABA-transaminase deficiency
def: "An enzymatic deficiency resulting in psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. GABATD inheritance is autosomal recessive." []
xref: MedGen:C0342708
xref: MeSH:D000592
xref: MIM:613163 "phenotype"
[Term]
id: DI-01642
name: Galactosemia 1
def: "A form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC1 inheritance is autosomal recessive." []
synonym: "Galactose-1-phosphate uridylyltransferase deficiency" [UniProt]
synonym: "Galactosemia I" [UniProt]
synonym: "Galactosemia, classic" [UniProt]
synonym: "Galactosemia, Duarte variant" [UniProt]
synonym: "GALT deficiency" [UniProt]
xref: MedGen:C0268151
xref: MedGen:C3278146
xref: MeSH:D005693
xref: MIM:230400 "phenotype"
[Term]
id: DI-01643
name: Galactosemia 2
def: "A form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC2 inheritance is autosomal recessive." []
synonym: "Galactokinase deficiency" [UniProt]
synonym: "Galactokinase deficiency with cataracts" [UniProt]
synonym: "Galactosemia II" [UniProt]
synonym: "GALK deficiency" [UniProt]
xref: MedGen:C0268155
xref: MeSH:D005693
xref: MIM:230200 "phenotype"
[Term]
id: DI-01644
name: Galactosialidosis
def: "A lysosomal storage disease associated with a combined deficiency of beta-galactosidase and neuraminidase, secondary to a defect in cathepsin A. All patients have clinical manifestations typical of a lysosomal disorder, such as coarse facies, cherry red spots, vertebral changes, foam cells in the bone marrow, and vacuolated lymphocytes. Three phenotypic subtypes are recognized. The early infantile form is associated with fetal hydrops, edema, ascites, visceromegaly, skeletal dysplasia, and early death. The late infantile type is characterized by hepatosplenomegaly, growth retardation, cardiac involvement, and a normal or mildly affected mental state. The juvenile/adult form is characterized by myoclonus, ataxia, angiokeratoma, intellectual disability, neurologic deterioration, absence of visceromegaly, and long survival." []
synonym: "Cathepsin A deficiency" [UniProt]
synonym: "Goldberg syndrome" [UniProt]
synonym: "Lysosomal protective protein deficiency" [UniProt]
synonym: "Neuraminidase deficiency with beta-galactosidase deficiency" [UniProt]
synonym: "PPCA deficiency" [UniProt]
synonym: "Protective protein cathepsin A deficiency" [UniProt]
xref: MedGen:C0268233
xref: MedGen:CN068412
xref: MedGen:CN068413
xref: MedGen:CN068414
xref: MeSH:D016464
xref: MIM:256540 "phenotype"
[Term]
id: DI-01645
name: Diffuse gastric and lobular breast cancer syndrome
def: "A cancer predisposition syndrome with increased susceptibility to diffuse gastric cancer. Diffuse gastric cancer is a malignant disease characterized by poorly differentiated infiltrating lesions resulting in thickening of the stomach. Malignant tumors start in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. In addition to gastric cancer, most female mutation carriers develop lobular carcinoma of the breast." []
synonym: "Gastric cancer familial diffuse" [UniProt]
synonym: "Gastric cancer familial diffuse and cleft lip with or without cleft palate" [UniProt]
synonym: "HDGC" [UniProt]
synonym: "Hereditary diffuse gastric cancer" [UniProt]
xref: MedGen:C3149287
xref: MeSH:D013274
xref: MIM:137215 "phenotype"
[Term]
id: DI-01646
name: Gastrointestinal stromal tumor
def: "Common mesenchymal neoplasms arising in the gastrointestinal tract, most often in the stomach. They are histologically, immunohistochemically, and genetically different from typical leiomyomas, leiomyosarcomas, and schwannomas. Most GISTs are composed of a fairly uniform population of spindle-shaped cells. Some tumors are dominated by epithelioid cells or contain a mixture of spindle and epithelioid morphologies. Primary GISTs in the gastrointestinal tract commonly metastasize in the omentum and mesenteries, often as multiple nodules. However, primary tumors may also occur outside of the gastrointestinal tract, in other intra-abdominal locations, especially in the omentum and mesentery." []
xref: MedGen:C0238198
xref: MeSH:D046152
xref: MIM:606764 "phenotype"
[Term]
id: DI-01647
name: Gaucher disease 1
def: "A form of Gaucher disease, an autosomal recessive lysosomal storage disease due to deficient activity of lysosomal beta- glucocerebrosidase, and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. GD1 is characterized by hepatosplenomegaly with consequent anemia and thrombopenia, and bone involvement. The central nervous system is not involved." []
synonym: "Adult non-neuronopathic Gaucher disease" [UniProt]
synonym: "Gaucher disease type I" [UniProt]
synonym: "GD I" [UniProt]
synonym: "Noncerebral juvenile Gaucher disease" [UniProt]
xref: MedGen:C1961835
xref: MeSH:D005776
xref: MIM:230800 "phenotype"
[Term]
id: DI-01648
name: Gaucher disease 2
def: "The most severe form of Gaucher disease, an autosomal recessive lysosomal storage disease due to deficient activity of lysosomal beta- glucocerebrosidase, and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. GD2 is an acute neuronopathic form that manifests soon after birth, with death generally occurring before patients reach two years of age. Clinical features include hepatosplenomegaly, developmental regression, growth arrest, and rapidly progressing neurologic deterioration." []
synonym: "Acute neuronopathic Gaucher disease" [UniProt]
synonym: "Gaucher disease type II" [UniProt]
synonym: "GD II" [UniProt]
xref: MedGen:C0268250
xref: MeSH:D005776
xref: MIM:230900 "phenotype"
[Term]
id: DI-01649
name: Gaucher disease 3
def: "A form of Gaucher disease, an autosomal recessive lysosomal storage disease due to deficient activity of lysosomal beta- glucocerebrosidase, and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. GD3 is a subacute neuronopathic form characterized by later onset and slower progression compared to Gaucher disease 2." []
synonym: "Cerebral, juvenile and adult, Gaucher disease" [UniProt]
synonym: "Gaucher disease chronic neuronopathic type" [UniProt]
synonym: "Gaucher disease type II" [UniProt]
synonym: "GD III" [UniProt]
synonym: "Subacute neuronopathic Gaucher disease" [UniProt]
xref: MedGen:C0268251
xref: MedGen:C1856491
xref: MedGen:C1856492
xref: MedGen:C1856493
xref: MeSH:D005776
xref: MIM:231000 "phenotype"
[Term]
id: DI-01650
name: Gaucher disease 3C
def: "A variant of subacute neuronopathic Gaucher disease 3 associated with cardiovascular calcifications." []
synonym: "Gaucher-like disease" [UniProt]
synonym: "Pseudo-Gaucher disease" [UniProt]
xref: MedGen:C1856476
xref: MeSH:D005776
xref: MIM:231005 "phenotype"
[Term]
id: DI-01651
name: Corneal dystrophy, gelatinous drop-like
def: "A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. GDLD is an autosomal recessive disorder characterized by severe corneal amyloidosis leading to blindness. Clinical manifestations, which appear in the first decade of life, include blurred vision, photophobia, and foreign-body sensation. By the third decade, raised, yellowish-gray, gelatinous masses severely impair visual acuity." []
synonym: "Amyloid corneal dystrophy Japanese type" [UniProt]
synonym: "CDGDL" [UniProt]
synonym: "Corneal amyloidosis" [UniProt]
synonym: "Lattice corneal dystrophy type III" [UniProt]
xref: MedGen:C0339273
xref: MeSH:D003317
xref: MeSH:D028226
xref: MIM:204870 "phenotype"
[Term]
id: DI-01652
name: Geleophysic dysplasia 1
def: "An autosomal recessive disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues." []
synonym: "Geleophysic dwarfism" [UniProt]
xref: MedGen:C3278147
xref: MeSH:D004392
xref: MIM:231050 "phenotype"
[Term]
id: DI-01654
name: Thyroid hormone resistance, generalized, autosomal dominant
def: "An autosomal dominant disease characterized by high levels of circulating thyroid hormones (T3-T4), goiter, abnormal mental functions, increased susceptibility to infections, abnormal growth and bone maturation, tachycardia and deafness. Affected individuals may also have attention deficit-hyperactivity disorders (ADHD) and language difficulties. Patients have normal or slightly elevated thyroid stimulating hormone (TSH)." []
synonym: "Familial euthyroid hyperthyroxinemia, secondary to pituitary and peripheral resistance to thyroid hormones" [UniProt]
synonym: "GTHR" [UniProt]
synonym: "Thyroid hormone unresponsiveness" [UniProt]
xref: MedGen:C2937288
xref: MeSH:D006981
xref: MIM:188570 "phenotype"
[Term]
id: DI-01655
name: Ovarian cancer
def: "The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease." []
synonym: "Epithelial ovarian cancer" [UniProt]
xref: MedGen:C0677886
xref: MedGen:C1140680
xref: MeSH:D010051
xref: MIM:167000 "phenotype"
[Term]
id: DI-01656
name: Gerstmann-Straussler disease
def: "A rare inherited prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. GSD presents with progressive limb and truncal ataxia, dysarthria, and cognitive decline in the thirties and forties, and the average disease duration is 7 years." []
synonym: "Cerebellar ataxia, progressive dementia, and amyloid deposits in CNS" [UniProt]
synonym: "Cerebral amyloidosis with spongiform encephalopathy" [UniProt]
synonym: "Gerstmann-Straussler-Scheinker disease" [UniProt]
synonym: "GSS" [UniProt]
synonym: "Prion dementia" [UniProt]
synonym: "Subacute spongiform encephalopathy Gerstmann-Straussler type" [UniProt]
xref: MedGen:C0017495
xref: MeSH:D016098
xref: MIM:137440 "phenotype"
[Term]
id: DI-01657
name: Ghosal hematodiaphyseal dysplasia
def: "Rare autosomal recessive disorder characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia. Aregenerative anemia is characterized by bone marrow failure, so that functional marrow cells are regenerated slowly or not at all." []
xref: MedGen:C1856465
xref: MIM:231095 "phenotype"
[Term]
id: DI-01658
name: Giant axonal neuropathy 1, autosomal recessive
def: "A severe autosomal recessive sensorimotor neuropathy affecting both the peripheral nerves and the central nervous system. Axonal loss and the presence of giant axonal swellings filled with neurofilaments on nerve biopsies are the hallmarks of this neurodegenerative disorder." []
synonym: "GAN" [UniProt]
xref: MedGen:C1850386
xref: MeSH:D015417
xref: MIM:256850 "phenotype"
[Term]
id: DI-01659
name: Gilbert syndrome
def: "Occurs as a consequence of reduced bilirubin transferase activity and is often detected in young adults with vague non-specific complaints." []
xref: MedGen:C0017551
xref: MIM:143500 "phenotype"
[Term]
id: DI-01660
name: Gilles de la Tourette syndrome
def: "Neurologic disorder manifested particularly by motor and vocal tics and associated with behavioral abnormalities." []
xref: MedGen:C0040517
xref: MedGen:C1392622
xref: MIM:137580 "phenotype"
[Term]
id: DI-01661
name: Gillespie syndrome
def: "A rare disease characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, progressive cerebellar atrophy, and intellectual disability." []
synonym: "Aniridia, cerebellar ataxia and mental deficiency" [UniProt]
xref: MedGen:C0431401
xref: MeSH:D002524
xref: MeSH:D008607
xref: MeSH:D015783
xref: MIM:206700 "phenotype"
[Term]
id: DI-01662
name: Fibromatosis, gingival, 1
def: "A form of hereditary gingival fibromatosis, a rare condition characterized by a slow, progressive overgrowth of the gingiva. The excess gingival tissue can cover part of or the entire crown, and can result in diastemas, teeth displacement, or retention of primary or impacted teeth. GINGF1 is usually transmitted as an autosomal dominant trait, although sporadic cases are common." []
synonym: "Fibromatosis, gingival, hereditary" [UniProt]
synonym: "GGF1" [UniProt]
synonym: "GINGF" [UniProt]
synonym: "Hereditary gingival fibromatosis" [UniProt]
synonym: "HGF" [UniProt]
xref: MedGen:C0399440
xref: MeSH:D005351
xref: MIM:135300 "phenotype"
[Term]
id: DI-01663
name: Glycerol kinase deficiency
def: "A metabolic disorder manifesting as 3 clinically distinct forms: infantile, juvenile, and adult. The infantile form is the most severe and is associated with severe developmental delay and adrenal insufficiency. Patients with the adult form have no symptoms and are often detected fortuitously. GKD results in hyperglycerolemia, a condition characterized by the accumulation of glycerol in the blood and urine." []
synonym: "GK deficiency" [UniProt]
synonym: "GK1 deficiency" [UniProt]
synonym: "Hyperglycerolemia" [UniProt]
xref: MedGen:C0268418
xref: MeSH:D002239
xref: MIM:307030 "phenotype"
[Term]
id: DI-01664
name: Glanzmann thrombasthenia 1
def: "A form of Glanzmann thrombasthenia, a disorder characterized by failure of platelet aggregation, absent or diminished clot retraction, and mucocutaneous bleeding of mild-to-moderate severity. Glanzmann thrombasthenia has been classified into clinical types I and II. In type I, platelets show absence of glycoprotein IIb-IIIa complexes at their surface and lack fibrinogen and clot retraction capability. In type II, the platelets express glycoprotein IIb-IIIa complexes at reduced levels, have detectable amounts of fibrinogen, and have low or moderate clot retraction capability. GT1 inheritance is autosomal recessive." []
synonym: "BDPLT2" [UniProt]
synonym: "Bleeding disorder platelet-type 2" [UniProt]
synonym: "Deficiency of platelet fibrinogen receptor" [UniProt]
synonym: "Glycoprotein complex IIb-IIIa deficiency" [UniProt]
synonym: "Platelet glycoprotein IIb-IIIa deficiency" [UniProt]
synonym: "Thrombasthenia of Glanzmann and Naegeli" [UniProt]
xref: MedGen:C0040015
xref: MeSH:D013915
xref: MIM:273800 "phenotype"
[Term]
id: DI-01665
name: Glioma 1
def: "Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes." []
xref: MedGen:C2750850
xref: MeSH:D005910
xref: MIM:137800 "phenotype"
[Term]
id: DI-01666
name: Spermatogenic failure 6
def: "An infertility disorder caused by spermatogenesis defects. The most prominent feature is the malformation of the acrosome, which can be totally absent in most severe cases. Additional features are an abnormal nuclear shape and abnormal arrangement of the mitochondria of the spermatozoon." []
synonym: "Acrosome malformation of spermatozoa" [UniProt]
synonym: "Globozoospermia" [UniProt]
synonym: "Round-headed spermatozoa" [UniProt]
xref: MedGen:C0403825
xref: MeSH:D007248
xref: MIM:102530 "phenotype"
[Term]
id: DI-01667
name: Glomerulopathy with fibronectin deposits 2
def: "Genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life." []
synonym: "Familial glomerular nephritis with fibronectin deposits" [UniProt]
synonym: "Fibronectin glomerulopathy" [UniProt]
xref: MedGen:C1866075
xref: MIM:601894 "phenotype"
[Term]
id: DI-01668
name: Glomuvenous malformations
def: "Characterized by the presence of smooth-muscle-like glomus cells in the media surrounding distended vascular lumens." []
xref: MedGen:C1841984
xref: MIM:138000 "phenotype"
[Term]
id: DI-01669
name: Glucocorticoid deficiency 1
def: "A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements." []
synonym: "ACTH resistance" [UniProt]
synonym: "Adrenal unresponsiveness to ACTH" [UniProt]
synonym: "Familial glucocorticoid deficiency 1" [UniProt]
synonym: "FGD1" [UniProt]
synonym: "Hereditary unresponsiveness to adrenocorticotropic hormone" [UniProt]
synonym: "Isolated glucocorticoid deficiency" [UniProt]
xref: MedGen:C1859974
xref: MeSH:D000309
xref: MIM:202200 "phenotype"
[Term]
id: DI-01670
name: Glucocorticoid deficiency 2
def: "A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements." []
synonym: "Familial glucocorticoid deficiency 2" [UniProt]
synonym: "FGD2" [UniProt]
xref: MedGen:C1846284
xref: MeSH:D000309
xref: MIM:607398 "phenotype"
[Term]
id: DI-01671
name: Glucocorticoid resistance
def: "Hypertensive, hyperandrogenic disorder characterized by increased serum cortisol concentrations. Inheritance is autosomal dominant." []
synonym: "Cortisol resistance" [UniProt]
xref: MedGen:C1841973
xref: MedGen:C1841982
xref: MIM:138040 "gene+phenotype"
[Term]
id: DI-01672
name: Glutamate formiminotransferase deficiency
def: "Autosomal recessive disorder. Features of a severe phenotype, include elevated levels of formiminoglutamate (FIGLU) in the urine in response to histidine administration, megaloblastic anemia, and intellectual disability. Features of a mild phenotype include high urinary excretion of FIGLU in the absence of histidine administration, mild developmental delay, and no hematological abnormalities." []
synonym: "Formiminoglutamic aciduria" [UniProt]
synonym: "Formiminoglutamicaciduria" [UniProt]
synonym: "Formiminotransferase deficiency" [UniProt]
xref: MedGen:C0268609
xref: MIM:229100 "phenotype"
[Term]
id: DI-01673
name: Glutathione synthetase deficiency
def: "Severe form characterized by an increased rate of hemolysis and defective function of the central nervous system." []
synonym: "5-oxoprolinuria" [UniProt]
synonym: "Pyroglutamic aciduria" [UniProt]
xref: MedGen:C0398746
xref: MIM:266130 "phenotype"
[Term]
id: DI-01674
name: Glutathione synthetase deficiency of erythrocytes
def: "Mild form causing hemolytic anemia." []
xref: MedGen:C1856399
xref: MIM:231900 "phenotype"
[Term]
id: DI-01675
name: Glutathionuria
def: "A very rare, autosomal recessive metabolic disorder characterized by the presence of glutathione in the urine, due to generalized gamma- glutamyl transpeptidase deficiency. Most patients manifest mild to moderate intellectual disability, and behavioral disturbance. Seizures, tremor, marfanoid features and strabismus are observed in some patients." []
synonym: "Gamma-glutamyltransferase deficiency" [UniProt]
synonym: "Gamma-glutamyltranspeptidase deficiency" [UniProt]
synonym: "GGT deficiency" [UniProt]
synonym: "GTG deficiency" [UniProt]
xref: MedGen:C0268524
xref: MeSH:D000592
xref: MIM:231950 "phenotype"
[Term]
id: DI-01676
name: Glycogen storage disease of heart lethal congenital
def: "Rare disease which leads to death within a few weeks to a few months after birth, through heart failure and respiratory compromise." []
synonym: "Congenital nonlysosomal cardiac glycogenosis" [UniProt]
synonym: "Phosphorylase kinase deficiency of heart" [UniProt]
xref: MedGen:C1849813
xref: MIM:261740 "phenotype"
[Term]
id: DI-01677
name: Glycosylphosphatidylinositol biosynthesis defect 1
def: "An autosomal recessive disorder characterized by portal vein thrombosis and portal hypertension, absence seizures, macrocephaly, splenomegaly, cytopenias and early-onset cerebral infarctions." []
synonym: "Glycosylphosphatidylinositol deficiency" [UniProt]
synonym: "GPID" [UniProt]
xref: MedGen:C1853205
xref: MeSH:D012640
xref: MIM:610293 "phenotype"
[Term]
id: DI-01678
name: GNAS hyperfunction
def: "This condition is characterized by increased trauma-related bleeding tendency, prolonged bleeding time, brachydactyly and intellectual disability. Both the XLas isoforms and the ALEX protein are mutated which strongly reduces the interaction between them and this may allow unimpeded activation of the XLas isoforms." []
xref: MedGen:C1841727
xref: MIM:139320 "gene+phenotype"
[Term]
id: DI-01679
name: Gnathodiaphyseal dysplasia
def: "Rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients experience frequent bone fractures caused by trivial accidents in childhood; however the fractures heal normally without bone deformity. The jaw lesions replace the tooth-bearing segments of the maxilla and mandible with fibrous connective tissues, including various amounts of cementum-like calcified mass, sometimes causing facial deformities. Patients also have a propensity for jaw infection and often suffer from purulent osteomyelitis-like symptoms, such as swelling of and pus discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction and exposure of the lesions into the oral cavity." []
synonym: "Gnathodiaphyseal sclerosis" [UniProt]
synonym: "Osteogenesis imperfecta with unusual skeletal lesions" [UniProt]
xref: MedGen:C1833736
xref: MeSH:D010013
xref: MIM:166260 "phenotype"
[Term]
id: DI-01680
name: Glycine N-methyltransferase deficiency
def: "The only clinical abnormalities in patients with this deficiency are mild hepatomegaly and chronic elevation of serum transaminases." []
synonym: "Hypermethioninemia" [UniProt]
xref: MedGen:C1847720
xref: MIM:606664 "phenotype"
[Term]
id: DI-01681
name: Goldberg-Shprintzen syndrome
def: "A disorder characterized by intellectual disability, microcephaly, and dysmorphic facial features. Most patients also have Hirschsprung disease." []
synonym: "Goldberg-Shprintzen megacolon syndrome" [UniProt]
xref: MedGen:C1836123
xref: MeSH:D006627
xref: MeSH:D019465
xref: MIM:609460 "phenotype"
[Term]
id: DI-01682
name: 46,XY sex reversal 1
def: "A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. Patients manifest rapid and early degeneration of their gonads, which are present in the adult as 'streak gonads', consisting mainly of fibrous tissue and variable amounts of ovarian stroma. As a result these patients do not develop secondary sexual characteristics at puberty. The external genitalia in these subjects are completely female, and Muellerian structures are normal." []
synonym: "46,XY gonadal dysgenesis complete SRY-related" [UniProt]
synonym: "46,XY sex reversal SRY-related" [UniProt]
synonym: "46,XY true hermaphroditism SRY-related" [UniProt]
synonym: "Gonadal dysgenesis XY female type" [UniProt]
synonym: "Swyer syndrome" [UniProt]
synonym: "XY females" [UniProt]
xref: MedGen:C2748896
xref: MedGen:C2748897
xref: MedGen:C2748898
xref: MedGen:C2748899
xref: MeSH:D006061
xref: MIM:400044 "phenotype"
[Term]
id: DI-01683
name: Hyperuricemia, HPRT-related
def: "An X-linked metabolic disorder characterized by uric acid excess in the blood, renal stones, uric acid nephropathy, and renal obstruction. After puberty, the hyperuricemia may cause gout." []
synonym: "HPRT deficiency, partial" [UniProt]
synonym: "HPRT-related gout" [UniProt]
synonym: "HPRT1 deficiency, partial" [UniProt]
synonym: "Kelley-Seegmiller syndrome" [UniProt]
xref: MedGen:C0268117
xref: MeSH:D006073
xref: MIM:300323 "phenotype"
[Term]
id: DI-01684
name: GRACILE syndrome
def: "GRACILE stands for 'growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death'. It is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism." []
xref: MedGen:C1864002
xref: MIM:603358 "phenotype"
[Term]
id: DI-01685
name: Greig cephalo-poly-syndactyly syndrome
def: "Autosomal dominant disorder affecting limb and craniofacial development. It is characterized by pre- and postaxial polydactyly, syndactyly of fingers and toes, macrocephaly and hypertelorism." []
xref: MedGen:C0265306
xref: MIM:175700 "phenotype"
[Term]
id: DI-01686
name: Griscelli syndrome 1
def: "Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, silvery-gray hair and accumulation of melanosomes in melanocytes. GS1 patients show developmental delay, hypotonia and intellectual disability, without apparent immune abnormalities." []
synonym: "Griscelli syndrome with primary neurologic impairment" [UniProt]
xref: MedGen:C1859194
xref: MIM:214450 "phenotype"
[Term]
id: DI-01687
name: Griscelli syndrome 2
def: "Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. GS2 patients also develop an uncontrolled T-lymphocyte and macrophage activation syndrome, known as hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation. Neurological impairment is present in some patients, likely as a result of hemophagocytic syndrome." []
xref: MedGen:C1868679
xref: MIM:607624 "phenotype"
[Term]
id: DI-01688
name: Griscelli syndrome 3
def: "Rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations." []
xref: MedGen:C1836573
xref: MIM:609227 "phenotype"
[Term]
id: DI-01689
name: Pituitary adenoma 1, multiple types
def: "A form of pituitary adenoma, a neoplasm of the pituitary gland and one of the most common neuroendocrine tumors. Pituitary adenomas are clinically classified as functional and non-functional tumors, and manifest with a variety of features, including local invasion of surrounding structures and excessive hormone secretion. Functional pituitary adenomas are further classified by the type of hormone they secrete: growth hormone (GH)-secreting, prolactin (PRL)-secreting, adrenocorticotropin (ACTH)-secreting, thyroid- stimulating hormone (TSH)-secreting, and plurihormonal (GH and TSH) tumors. Familial and sporadic forms have been reported." []
synonym: "Acromegaly due to pituitary adenoma" [UniProt]
synonym: "Acromegaly due to pituitary adenoma 1" [UniProt]
synonym: "Familial isolated pituitary adenoma" [UniProt]
synonym: "Familial isolated somatotropinomas" [UniProt]
synonym: "Familial somatotrophinoma" [UniProt]
synonym: "FIPA" [UniProt]
synonym: "FIS" [UniProt]
synonym: "IFS" [UniProt]
synonym: "Isolated familial somatotropinoma" [UniProt]
synonym: "PAGH1" [UniProt]
synonym: "Pituitary adenoma, growth hormone-secreting, 1" [UniProt]
xref: MedGen:C0346302
xref: MedGen:C1863340
xref: MedGen:C2676191
xref: MedGen:C3489630
xref: MeSH:D000172
xref: MeSH:D049912
xref: MIM:102200 "phenotype"
[Term]
id: DI-01690
name: Cerebral creatine deficiency syndrome 2
def: "An autosomal recessive disorder characterized by developmental delay and regression, intellectual disability, severe disturbance of expressive and cognitive speech, intractable seizures, movement disturbances, severe depletion of creatine and phosphocreatine in the brain, and accumulation of guanidinoacetic acid in brain and body fluids." []
synonym: "Creatine deficiency syndrome due to GAMT deficiency" [UniProt]
synonym: "GAMT deficiency" [UniProt]
synonym: "Guanidinoacetate methyltransferase deficiency" [UniProt]
xref: MedGen:C0574080
xref: MeSH:D007805
xref: MeSH:D009069
xref: MIM:612736 "phenotype"
[Term]
id: DI-01691
name: Guttmacher syndrome
def: "Dominantly inherited combination of distal limb and genital tract abnormalities. It has several features in common with hand-foot- genital syndrome, including hypoplastic first digits and hypospadias. Typical features not seen in hand-foot-genital syndrome include postaxial polydactyly of the hands and uniphalangeal second toes with absent nails." []
xref: MedGen:C1867801
xref: MIM:176305 "phenotype"
[Term]
id: DI-01692
name: Histiocytosis-lymphadenopathy plus syndrome
def: "A syndrome characterized by the combination of features from 2 or more of four histiocytic disorders, originally thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC features include joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes. SHML causes lymph node enlargement in children frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. H syndrome is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss is found in about half of patients. PHID is characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome." []
synonym: "Cutaneous hyperpigmentation with hypertrichosis hepatosplenomegaly heart anomalies and hypogonadism with or without hearing loss" [UniProt]
synonym: "Faisalabad histiocytosis" [UniProt]
synonym: "Familial Rosai-Dorfman disease" [UniProt]
synonym: "H syndrome" [UniProt]
synonym: "Histiocytosis and lymphadenopathy with or without cutaneous cardiac and/or endocrine features joint contractures and/or deafness" [UniProt]
synonym: "Histiocytosis with joint contractures and sensorineural deafness" [UniProt]
synonym: "HJCD" [UniProt]
synonym: "PHID" [UniProt]
synonym: "Pigmented hypertrichosis with insulin-dependent diabetes mellitus" [UniProt]
synonym: "SHML" [UniProt]
synonym: "Sinus histiocytosis and massive lymphadenopathy" [UniProt]
xref: MedGen:C1864445
xref: MeSH:D015618
xref: MIM:602782 "phenotype"
[Term]
id: DI-01693
name: Hailey-Hailey disease
def: "An autosomal dominant cutaneous disorder characterized by erythema, skin blisters and erosions, and suprabasal acantholysis. Blisters and erosions most often affect the neck, armpits, skin folds, groin and genitals." []
synonym: "BCPM" [UniProt]
synonym: "Benign chronic pemphigus" [UniProt]
synonym: "Pemphigus, benign familial" [UniProt]
xref: MedGen:C0085106
xref: MeSH:D016506
xref: MIM:169600 "phenotype"
[Term]
id: DI-01694
name: Hand-foot-genital syndrome
def: "A disorder characterized by limb and genitourinary anomalies. Clinical features include small feet with unusually short great toes and abnormal thumbs. Females with the disorder have duplication of the genital tract." []
synonym: "Hand-foot-uterus syndrome" [UniProt]
synonym: "HFG syndrome" [UniProt]
synonym: "HFU" [UniProt]
synonym: "HFU syndrome" [UniProt]
xref: MedGen:C1841679
xref: MeSH:D014564
xref: MeSH:D017880
xref: MIM:140000 "phenotype"
[Term]
id: DI-01695
name: Hartnup disorder
def: "Autosomal recessive abnormality of renal and gastrointestinal neutral amino acid transport noted for its clinical variability. First described in 1956, HND is characterized by increases in the urinary and intestinal excretion of neutral amino acids. Individuals with typical Hartnup aminoaciduria may be asymptomatic, some develop a photosensitive pellagra-like rash, attacks of cerebellar ataxia and other neurological or psychiatric features. Although the definition of HND was originally based on clinical and biochemical abnormalities, its marked clinical heterogeneity has led to it being known as a disorder with a consistent pathognomonic neutral hyperaminoaciduria." []
xref: MedGen:C0018609
xref: MIM:234500 "phenotype"
[Term]
id: DI-01696
name: Squamous cell carcinoma of the head and neck
def: "A non-melanoma skin cancer affecting the head and neck. The hallmark of cutaneous SCC is malignant transformation of normal epidermal keratinocytes." []
xref: MedGen:C1168401
xref: MeSH:D002294
xref: MIM:275355 "phenotype"
[Term]
id: DI-01697
name: Heart-hand syndrome Slovenian type
def: "Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac disease and limb malformations." []
xref: MedGen:C1857829
xref: MIM:610140 "phenotype"
[Term]
id: DI-01698
name: Heinz body anemias
def: "Form of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency." []
xref: MedGen:C0700299
xref: MIM:140700 "phenotype"
[Term]
id: DI-01699
name: Hemochromatosis 2A
def: "A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy." []
synonym: "HEFE2" [UniProt]
synonym: "Hemochromatosis type 2" [UniProt]
synonym: "JH" [UniProt]
synonym: "Juvenile hemochromatosis" [UniProt]
xref: MedGen:C0268060
xref: MedGen:C1865614
xref: MeSH:D006432
xref: MIM:602390 "phenotype"
[Term]
id: DI-01700
name: Hemochromatosis 2B
def: "A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy." []
xref: MedGen:C1865616
xref: MeSH:D006432
xref: MIM:613313 "phenotype"
[Term]
id: DI-01701
name: Hemochromatosis 4
def: "A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading." []
synonym: "Hemochromatosis autosomal dominant" [UniProt]
synonym: "Hemochromatosis due to defect in ferroportin" [UniProt]
xref: MedGen:C1853733
xref: MeSH:D006432
xref: MIM:606069 "phenotype"
[Term]
id: DI-01702
name: Hemolytic anemia due to adenylate kinase deficiency
def: "A disease characterized by hemolytic anemia and undetectable erythrocyte adenylate kinase activity." []
xref: MedGen:C2675459
xref: MeSH:D000745
xref: MIM:612631 "phenotype"
[Term]
id: DI-01703
name: Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
def: "A disease characterized by hemolytic anemia, glutathione deficiency, myopathy, late-onset spinocerebellar degeneration, and peripheral neuropathy." []
xref: MedGen:C1856603
xref: MeSH:D000743
xref: MIM:230450 "phenotype"
[Term]
id: DI-01704
name: Hemolytic uremic syndrome, atypical, 1
def: "An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease." []
synonym: "AHUS" [UniProt]
synonym: "Atypical hemolytic uremic syndrome with H factor anomaly" [UniProt]
synonym: "D(-)HUS" [UniProt]
synonym: "Hemolytic-uremic syndrome" [UniProt]
synonym: "Hemolytic-uremic syndrome without diarrhea" [UniProt]
xref: MedGen:C1856143
xref: MedGen:C2749604
xref: MeSH:D065766
xref: MIM:235400 "phenotype"
[Term]
id: DI-01705
name: Hemophilia A
def: "A disorder of blood coagulation characterized by a permanent tendency to hemorrhage. About 50% of patients have severe hemophilia resulting in frequent spontaneous bleeding into joints, muscles and internal organs. Less severe forms are characterized by bleeding after trauma or surgery." []
synonym: "Classic hemophilia" [UniProt]
synonym: "Factor 8 deficiency" [UniProt]
synonym: "Factor VIII deficiency" [UniProt]
xref: MedGen:C0015506
xref: MedGen:C0019069
xref: MeSH:D006467
xref: MIM:306700 "phenotype"
[Term]
id: DI-01706
name: Hepatic lipase deficiency
def: "A disorder characterized by elevated levels of beta-migrating very low density lipoproteins, and abnormally triglyceride-rich low and high density lipoproteins." []
xref: MedGen:C3151466
xref: MeSH:D008052
xref: MIM:614025 "phenotype"
[Term]
id: DI-01707
name: Hepatic venoocclusive disease with immunodeficiency
def: "Autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis. The immunodeficiency is characterized by severe hypogammaglobulinemia, combined T and B-cell immunodeficiency, absent lymph node germinal centers, and absent tissue plasma cells." []
xref: MedGen:C1856128
xref: MIM:235550 "phenotype"
[Term]
id: DI-01708
name: Hepatocellular carcinoma
def: "A primary malignant neoplasm of epithelial liver cells. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes." []
synonym: "Hepatocellular cancer" [UniProt]
synonym: "Hepatoma" [UniProt]
synonym: "LCC" [UniProt]
synonym: "Liver cancer" [UniProt]
synonym: "Liver cell carcinoma" [UniProt]
xref: MedGen:C0206624
xref: MedGen:C0345904
xref: MedGen:C2239176
xref: MedGen:C2676033
xref: MeSH:D006528
xref: MIM:114550 "phenotype"
[Term]
id: DI-01709
name: Mitochondrial DNA depletion syndrome 3
def: "A disorder due to mitochondrial dysfunction characterized by onset in infancy of progressive liver failure, hypoglycemia, increased lactate in body fluids, and neurologic abnormalities including hypotonia, encephalopathy, peripheral neuropathy. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes and mtDNA depletion." []
synonym: "Hepatocerebral mitochondrial DNA deletions syndrome autosomal recessive" [UniProt]
synonym: "Mitochondrial DNA depletion syndrome 3 hepatocerebral type" [UniProt]
xref: MedGen:C3151513
xref: MeSH:D017237
xref: MIM:251880 "phenotype"
[Term]
id: DI-01710
name: Hereditary angiopathy with nephropathy aneurysms and muscle cramps
def: "The clinical renal manifestations include hematuria and bilateral large cysts. Histologic analysis revealed complex basement membrane defects in kidney and skin. The systemic angiopathy appears to affect both small vessels and large arteries." []
xref: MedGen:C2673195
xref: MIM:611773 "phenotype"
[Term]
id: DI-01711
name: Desmoid disease, hereditary
def: "An autosomal dominant disease characterized by multifocal fibromatosis of the abdominal wall and mesentery. Desmoid tumors can also affect paraspinal muscles, breast, occiput, arms, and lower ribs." []
synonym: "Familial infiltrative fibromatosis" [UniProt]
synonym: "FIF" [UniProt]
xref: MedGen:C1851124
xref: MedGen:C2675440
xref: MeSH:D000008
xref: MeSH:D018222
xref: MIM:135290 "phenotype"
[Term]
id: DI-01712
name: Hereditary folate malabsorption
def: "Rare autosomal recessive disorder characterized by impaired intestinal folate absorption with folate deficiency resulting in anemia, hypoimmunoglobulinemia with recurrent infections, and recurrent or chronic diarrhea. In many patients, neurological abnormalities such as seizures or intellectual disability become apparent during early childhood, attributed to impaired transport of folates into the central nervous system. When diagnosed early, the disorder can be treated by administration of folate. If untreated, it can be fatal and, if treatment is delayed, the neurological defects can become permanent." []
xref: MedGen:C0342705
xref: MIM:229050 "phenotype"
[Term]
id: DI-01713
name: Hereditary fructose intolerance
def: "Autosomal recessive disease that results in an inability to metabolize fructose and related sugars. Complete exclusion of fructose results in dramatic recovery; however, if not treated properly, HFI subjects suffer episodes of hypoglycemia, general ill condition, and risk of death the remainder of life." []
xref: MedGen:C0016751
xref: MIM:229600 "phenotype"
[Term]
id: DI-01714
name: Hemochromatosis 1
def: "A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading." []
synonym: "Hemochromatosis type 1" [UniProt]
synonym: "Hereditary hemochromatosis" [UniProt]
synonym: "HH" [UniProt]
synonym: "HLAH" [UniProt]
synonym: "Primary hereditary hemochromatosis" [UniProt]
xref: MedGen:C0392514
xref: MeSH:D006432
xref: MIM:235200 "phenotype"
[Term]
id: DI-01715
name: Hemochromatosis 3
def: "A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading." []
synonym: "Hemochromatosis due to defect in transferrin receptor 2" [UniProt]
xref: MedGen:C1858664
xref: MeSH:D006432
xref: MIM:604250 "phenotype"
[Term]
id: DI-01716
name: Telangiectasia, hereditary hemorrhagic, 1
def: "A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain." []
synonym: "Hereditary hemorrhagic telangiectasia of Rendu, Osler, and Weber" [UniProt]
synonym: "ORW disease" [UniProt]
synonym: "ORW1" [UniProt]
synonym: "Osler-Rendu-Weber syndrome" [UniProt]
synonym: "Osler-Rendu-Weber syndrome 1" [UniProt]
xref: MedGen:C0039445
xref: MedGen:CN034812
xref: MeSH:D013683
xref: MIM:187300 "phenotype"
[Term]
id: DI-01717
name: Telangiectasia, hereditary hemorrhagic, 2
def: "A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain." []
xref: MedGen:C1832529
xref: MedGen:C1838163
xref: MeSH:D013683
xref: MIM:600376 "phenotype"
[Term]
id: DI-01718
name: Hyperferritinemia with or without cataract
def: "An autosomal dominant disease characterized by elevated level of ferritin in serum and tissues, and early-onset bilateral cataract. Cataracts may be subclinical in some patients." []
synonym: "HHCS" [UniProt]
synonym: "Hyperferritinemia, hereditary, with congenital cataracts" [UniProt]
synonym: "Hyperferritinemia-cataract syndrome" [UniProt]
xref: MedGen:C1833213
xref: MeSH:D002386
xref: MeSH:D019189
xref: MIM:600886 "phenotype"
[Term]
id: DI-01719
name: Hereditary hypophosphatemic rickets with hypercalciuria
def: "Autosomal recessive form of hypophosphatemia characterized by reduced renal phosphate reabsorption and rickets. Increased serum levels of 1,25-dihydroxyvitamin D lead to increase in urinary calcium excretion." []
xref: MedGen:C0342645
xref: MIM:241530 "phenotype"
[Term]
id: DI-01720
name: Hereditary intrinsic factor deficiency
def: "Autosomal recessive disorder characterized by megaloblastic anemia." []
synonym: "Congenital pernicious anemia" [UniProt]
xref: MedGen:C1394891
xref: MIM:261000 "phenotype"
[Term]
id: DI-01723
name: Methemoglobinemia CYB5R3-related
def: "A form of methemoglobinemia, a hematologic disease characterized by the presence of excessive amounts of methemoglobin in blood cells, resulting in decreased oxygen carrying capacity of the blood, cyanosis and hypoxia. There are two types of methemoglobinemia CYB5R3-related. In type 1, the defect affects the soluble form of the enzyme, is restricted to red blood cells, and causes well-tolerated methemoglobinemia. In type 2, the defect affects both the soluble and microsomal forms of the enzyme and is thus generalized, affecting red cells, leukocytes and all body tissues. Type 2 methemoglobinemia is associated with mental deficiency and other neurologic symptoms." []
synonym: "Methemoglobinemia congenital autosomal recessive" [UniProt]
synonym: "Methemoglobinemia due to deficiency of methemoglobin reductase" [UniProt]
synonym: "Methemoglobinemia type I" [UniProt]
synonym: "Methemoglobinemia type II" [UniProt]
synonym: "NADH-cytochrome b5 reductase deficiency" [UniProt]
synonym: "NADH-cytochrome b5 reductase deficiency type I" [UniProt]
synonym: "NADH-cytochrome b5 reductase deficiency type II" [UniProt]
synonym: "NADH-dependent methemoglobin reductase deficiency" [UniProt]
xref: MedGen:C0268193
xref: MedGen:C2749559
xref: MedGen:C2749560
xref: MedGen:C2749561
xref: MedGen:C2749562
xref: MeSH:D008708
xref: MIM:250800 "phenotype"
[Term]
id: DI-01724
name: Polyposis syndrome, mixed hereditary 2
def: "A disease is characterized by atypical juvenile polyps, colonic adenomas, and colorectal carcinomas." []
xref: MedGen:C1864730
xref: MeSH:D018256
xref: MIM:610069 "phenotype"
[Term]
id: DI-01725
name: Hereditary multiple exostoses 1
def: "EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event." []
xref: MedGen:C0015306
xref: MIM:133700 "phenotype"
[Term]
id: DI-01726
name: Hereditary multiple exostoses 2
def: "EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event." []
xref: MedGen:C1851413
xref: MIM:133701 "phenotype"
[Term]
id: DI-01727
name: Myopathy, myofibrillar, 9, with early respiratory failure
def: "An autosomal dominant myopathy characterized by adulthood onset of weakness in proximal, distal, axial and respiratory muscles. Pelvic girdle weakness, foot drop and neck weakness are the main symptoms at onset, but ultimately the weakness usually involves the proximal compartment of both upper and lower limbs. Additional features include variable degrees of Achilles tendon contractures, spinal rigidity and muscle hypertrophy. Respiratory involvement often leads to requirement for non-invasive ventilation support." []
synonym: "Edstrom myopathy" [UniProt]
synonym: "Hereditary myopathy with early respiratory failure" [UniProt]
synonym: "HMERF" [UniProt]
synonym: "MPRM" [UniProt]
synonym: "Myopathy, distal, with early respiratory failure, autosomal dominant" [UniProt]
synonym: "Myopathy, proximal, with early respiratory muscle involvement" [UniProt]
xref: MedGen:C1863599
xref: MeSH:D009135
xref: MIM:603689 "phenotype"
[Term]
id: DI-01728
name: Hereditary neuralgic amyotrophy
def: "Autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm. HNA is triggered by environmental factors such as infection or parturition." []
synonym: "Hereditary brachial plexus neuropathy" [UniProt]
synonym: "Hereditary neuralgic amyotrophy with predilection for brachial plexus" [UniProt]
synonym: "NAPB" [UniProt]
synonym: "Neuritis with brachial predilection" [UniProt]
xref: MedGen:C1834304
xref: MIM:162100 "phenotype"
[Term]
id: DI-01729
name: Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency
def: "A form of anemia in which there is no abnormal hemoglobin or spherocytosis. It is caused by glucose phosphate isomerase deficiency." []
xref: MedGen:C3150730
xref: MeSH:D000746
xref: MIM:613470 "phenotype"
[Term]
id: DI-01730
name: Orotic aciduria 1
def: "A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and intellectual disability. A minority of cases have additional features, particularly congenital malformations and immune deficiencies." []
synonym: "OPRT and ODC deficiency" [UniProt]
synonym: "Orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency" [UniProt]
synonym: "Orotic aciduria" [UniProt]
synonym: "Orotic aciduria I" [UniProt]
synonym: "Oroticaciduria 1" [UniProt]
synonym: "Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency" [UniProt]
synonym: "UMP synthase deficiency" [UniProt]
synonym: "UMPS deficiency" [UniProt]
synonym: "Uridine monophosphate synthase deficiency" [UniProt]
xref: MedGen:C0268128
xref: MedGen:C0268130
xref: MeSH:D011686
xref: MIM:258900 "phenotype"
[Term]
id: DI-01731
name: Pancreatitis, hereditary
def: "A disease characterized by pancreas inflammation, permanent destruction of the pancreatic parenchyma, maldigestion, and severe abdominal pain attacks." []
synonym: "Chronic pancreatitis" [UniProt]
synonym: "CP" [UniProt]
synonym: "HP" [UniProt]
synonym: "HPC" [UniProt]
xref: MedGen:C0238339
xref: MedGen:C1832108
xref: MedGen:C1868653
xref: MedGen:C1969419
xref: MeSH:D010195
xref: MIM:167800 "phenotype"
[Term]
id: DI-01732
name: Renal cell carcinoma papillary
def: "A subtype of renal cell carcinoma tending to show a tubulo-papillary architecture formed by numerous, irregular, finger-like projections of connective tissue. Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium." []
synonym: "Chromophilic renal cell carcinoma" [UniProt]
synonym: "PRCC" [UniProt]
xref: MedGen:C0007134
xref: MedGen:C1336839
xref: MeSH:D002292
xref: MIM:605074 "phenotype"
[Term]
id: DI-01733
name: Pheochromocytoma/paraganglioma syndrome 1
def: "A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL1 inheritance is autosomal dominant." []
synonym: "Carotid body tumors" [UniProt]
synonym: "CBT1" [UniProt]
synonym: "Chemodectomas" [UniProt]
synonym: "Familial non-chromaffin paragangliomas 1" [UniProt]
synonym: "Familial paragangliomas non-chromaffin 1 with or without deafness" [UniProt]
synonym: "Glomus jugulare tumors" [UniProt]
synonym: "Glomus tumors familial 1" [UniProt]
synonym: "Paraganglioma carotid body" [UniProt]
synonym: "Paragangliomas familial 1" [UniProt]
synonym: "Paragangliomata" [UniProt]
synonym: "PGL" [UniProt]
synonym: "PGL1" [UniProt]
xref: MedGen:C0007279
xref: MedGen:C0017671
xref: MedGen:C0030421
xref: MedGen:C0030422
xref: MedGen:C1868633
xref: MedGen:C3494181
xref: MeSH:D010235
xref: MIM:168000 "phenotype"
[Term]
id: DI-01734
name: Pheochromocytoma/paraganglioma syndrome 2
def: "A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL2 inheritance is autosomal dominant." []
synonym: "Familial non-chromaffin paragangliomas 2" [UniProt]
synonym: "Glomus tumors familial 2" [UniProt]
synonym: "Paragangliomas 2" [UniProt]
synonym: "PGL2" [UniProt]
xref: MedGen:C1866552
xref: MeSH:D010235
xref: MIM:601650 "phenotype"
[Term]
id: DI-01735
name: Pheochromocytoma/paraganglioma syndrome 4
def: "A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL4 inheritance is autosomal dominant." []
synonym: "Carotid body tumors and multiple extraadrenal pheochromocytomas" [UniProt]
synonym: "Familial chromaffin paraganglioma 4" [UniProt]
synonym: "Paraganglioma familial malignant" [UniProt]
synonym: "Paragangliomas 4" [UniProt]
synonym: "Paragangliomas hereditary extraadrenal" [UniProt]
synonym: "PGL4" [UniProt]
synonym: "Pheochromocytoma extraadrenal and cervical paraganglioma" [UniProt]
synonym: "Pheochromocytoma familial extraadrenal" [UniProt]
xref: MedGen:C1861848
xref: MeSH:D010235
xref: MIM:115310 "phenotype"
[Term]
id: DI-01736
name: Prostate cancer, hereditary, 1
def: "A condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma." []
synonym: "Familial prostate cancer 1" [UniProt]
synonym: "PRCA1" [UniProt]
xref: MedGen:C2931456
xref: MeSH:D011471
xref: MIM:601518 "phenotype"
[Term]
id: DI-01737
name: Hereditary pyropoikilocytosis
def: "Autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells." []
xref: MedGen:C0520739
xref: MIM:266140 "phenotype"
[Term]
id: DI-01738
name: Hereditary susceptibility to Wilms tumor 5
def: "Pediatric malignancy of kidney and one of the most common solid cancers in childhood." []
xref: MedGen:C1832099
xref: MIM:601583 "phenotype"
[Term]
id: DI-01739
name: Hexokinase deficiency
def: "Rare autosomal recessive disease with nonspherocytic hemolytic anemia as the predominant clinical feature." []
xref: MedGen:C0472792
xref: MedGen:C3150343
xref: MIM:235700 "phenotype"
[Term]
id: DI-01740
name: 3-hydroxyisobutryl-CoA hydrolase deficiency
def: "An autosomal recessive inborn error of valine metabolism. It causes severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia." []
synonym: "Beta-hydroxyisobutyryl CoA deacylase deficiency" [UniProt]
synonym: "Deficiency of beta-hydroxyisobutyryl CoA deacylase" [UniProt]
synonym: "HIBCH deficiency" [UniProt]
synonym: "Methacrylic acid toxicity" [UniProt]
synonym: "Methacrylic aciduria" [UniProt]
synonym: "Valine metabolic defect" [UniProt]
xref: MedGen:C0342738
xref: MeSH:D000592
xref: MIM:250620 "phenotype"
[Term]
id: DI-01741
name: High bone mass trait
def: "Rare phenotype characterized by exceptionally dense bones. HBM individuals show otherwise a completely normal skeletal structure and no other unusual clinical findings." []
xref: MedGen:C1866079
xref: MedGen:C1866080
xref: MIM:601884 "phenotype"
[Term]
id: DI-01742
name: Tangier disease
def: "An autosomal recessive disorder characterized by near absence of plasma high density lipoproteins, low serum HDL cholesterol, and massive tissue deposition of cholesterol esters. Clinical features include large yellow-orange tonsils, hepatomegaly, splenomegaly, enlarged lymph nodes, and often sensory polyneuropathy." []
synonym: "Analphalipoproteinemia" [UniProt]
synonym: "HDLD1" [UniProt]
synonym: "High density lipoprotein deficiency 1" [UniProt]
synonym: "High density lipoprotein deficiency, Tangier Type" [UniProt]
xref: MedGen:C0039292
xref: MeSH:D013631
xref: MIM:205400 "phenotype"
[Term]
id: DI-01743
name: Hypoalphalipoproteinemia, primary, 1
def: "An autosomal dominant disorder characterized by decreased plasma high density lipoproteins, moderately low HDL cholesterol, a reduction in cellular cholesterol efflux, and susceptibility to premature coronary artery disease." []
synonym: "Familial HDL deficiency" [UniProt]
synonym: "Familial hypoalphalipoproteinemia" [UniProt]
synonym: "FHA" [UniProt]
synonym: "FHD" [UniProt]
synonym: "HDLD2" [UniProt]
synonym: "High density lipoprotein deficiency 2" [UniProt]
xref: MedGen:C1704429
xref: MedGen:C2931838
xref: MeSH:D052456
xref: MIM:604091 "phenotype"
[Term]
id: DI-01744
name: High molecular weight kininogen deficiency
def: "Autosomal recessive coagulation defect. Patients with HWMK deficiency do not have a hemorrhagic tendency, but they exhibit abnormal surface- mediated activation of fibrinolysis." []
xref: MedGen:C0272340
xref: MedGen:C1856719
xref: MedGen:C2673570
xref: MedGen:C2673571
xref: MedGen:C2673572
xref: MIM:228960 "phenotype"
[Term]
id: DI-01745
name: Hirschsprung disease 3
def: "A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child." []
xref: MedGen:C2931739
xref: MedGen:C3150974
xref: MeSH:D006627
xref: MIM:613711 "phenotype"
[Term]
id: DI-01746
name: Hirschsprung disease 1
def: "A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child." []
synonym: "Aganglionic megacolon" [UniProt]
synonym: "Colonic aganglionosis" [UniProt]
synonym: "MGC" [UniProt]
xref: MedGen:C0019569
xref: MedGen:C2931876
xref: MedGen:CN030431
xref: MeSH:D006627
xref: MIM:142623 "phenotype"
[Term]
id: DI-01747
name: Hirschsprung disease 2
def: "A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child." []
synonym: "Aganglionic megacolon" [UniProt]
synonym: "MGC" [UniProt]
xref: MedGen:C1838564
xref: MeSH:D006627
xref: MIM:600155 "phenotype"
[Term]
id: DI-01748
name: Hirschsprung disease, cardiac defects, and autonomic dysfunction
def: "A disorder characterized by skip-lesions Hirschsprung disease, craniofacial abnormalities and other dysmorphic features, cardiac defects including ductus arteriosus, small subaortic ventricular septal defect, small atrial septal defect, and autonomic dysfunction." []
xref: MedGen:C3151237
xref: MeSH:D006627
xref: MIM:613870 "phenotype"
[Term]
id: DI-01749
name: Mowat-Wilson syndrome
def: "A complex developmental disorder characterized by intellectual disability, delayed motor development, epilepsy, microcephaly and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Affected patients show an easily recognizable facial appearance with deep set eyes and hypertelorism, medially divergent, broad eyebrows, prominent columella, pointed chin and uplifted, notched ear lobes. Some patients manifest Hirschsprung disease." []
xref: MedGen:C1856113
xref: MeSH:D006627
xref: MeSH:D008607
xref: MeSH:D008831
xref: MIM:235730 "phenotype"
[Term]
id: DI-01750
name: Histidinemia
def: "Autosomal recessive disease characterized by increased histidine and histamine as well as decreased urocanic acid in body fluids." []
xref: MedGen:C0220992
xref: MIM:235800 "phenotype"
[Term]
id: DI-01751
name: 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency
def: "A metabolic disorder characterized by severe hypoketotic hypoglycemia, encephalopathy, and hepatomegaly." []
synonym: "HMG-CoA synthase deficiency" [UniProt]
synonym: "HMGCS deficiency" [UniProt]
synonym: "HMGCS2 deficiency" [UniProt]
synonym: "Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency" [UniProt]
synonym: "Mitochondrial HMG-CoA synthase deficiency" [UniProt]
xref: MedGen:C2751532
xref: MeSH:D007003
xref: MeSH:D008661
xref: MeSH:D028361
xref: MIM:605911 "phenotype"
[Term]
id: DI-01752
name: Holt-Oram syndrome
def: "Developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects." []
xref: MedGen:C0265264
xref: MIM:142900 "phenotype"
[Term]
id: DI-01753
name: Spondyloepiphyseal dysplasia with congenital joint dislocations
def: "A bone dysplasia clinically characterized by dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. The disorder is usually evident at birth, with short stature and multiple joint dislocations or subluxations that dominate the neonatal clinical and radiographic picture. During childhood, the dislocations improve, both spontaneously and with surgical treatment, and features of spondyloepiphyseal dysplasia become apparent, leading to arthritis of the hips and spine with intervertebral disk degeneration, rigid kyphoscoliosis, and trunk shortening by late childhood." []
synonym: "HSD" [UniProt]
synonym: "Humerospinal dysostosis" [UniProt]
synonym: "SED Omani type" [UniProt]
synonym: "Spondyloepiphyseal dysplasia Omani type" [UniProt]
xref: MedGen:C1837657
xref: MedGen:C1840471
xref: MeSH:D010009
xref: MIM:143095 "phenotype"
[Term]
id: DI-01754
name: Huntington disease
def: "A neurodegenerative disorder characterized by involuntary movements (chorea), general motor impairment, psychiatric disorders and dementia. Onset of the disease occurs usually in the third or fourth decade of life. Onset and clinical course depend on the degree of poly-Gln repeat expansion, longer expansions resulting in earlier onset and more severe clinical manifestations. Neuropathology of Huntington disease displays a distinctive pattern with loss of neurons, especially in the caudate and putamen." []
xref: MedGen:C0020179
xref: MeSH:D006816
xref: MIM:143100 "phenotype"
[Term]
id: DI-01755
name: Huntington disease-like 1
def: "Autosomal dominant, early-onset neurodegenerative disorder with prominent psychiatric features." []
xref: MedGen:C1864112
xref: MIM:603218 "phenotype"
[Term]
id: DI-01756
name: Huntington disease-like 2
def: "Huntington disease (HD) is a neurodegenerative disorder resulting primarily from the loss of medium spiny projection neurons in the striatum, especially in the caudate nucleus, and, to a lesser extent, atrophy of mesencephalic and cortical structures. The typical clinical picture of HD combines familial adult onset chorea and subcortical dementia that usually begin during the fourth decade of life." []
xref: MedGen:C1847987
xref: MIM:606438 "phenotype"
[Term]
id: DI-01757
name: Hutchinson-Gilford progeria syndrome
def: "Rare genetic disorder characterized by features reminiscent of marked premature aging." []
xref: MedGen:C0033300
xref: MedGen:C2750285
xref: MedGen:CN070028
xref: MIM:176670 "phenotype"
[Term]
id: DI-01758
name: Hydatidiform mole, recurrent, 1
def: "A disorder characterized by excessive trophoblast development that produces a growing mass of tissue inside the uterus at the beginning of a pregnancy. It leads to abnormal pregnancies with no embryo, and cystic degeneration of the chorionic villi." []
synonym: "CHM" [UniProt]
synonym: "Complete hydatidiform mole" [UniProt]
synonym: "Gestational trophoblastic disease" [UniProt]
synonym: "Hydatidiform mole" [UniProt]
synonym: "HYDM" [UniProt]
xref: MedGen:C0020217
xref: MedGen:C2931618
xref: MedGen:C3463897
xref: MeSH:D006828
xref: MIM:231090 "phenotype"
[Term]
id: DI-01759
name: Hydrocephalus, congenital, X-linked
def: "An X-linked recessive form of congenital hydrocephalus, a disease characterized by in utero onset of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYCX is the most common inherited form and occurs in approximately 1/30000 male births. The primary diagnostic criteria of intellectual disability and enlarged cerebral ventricles are often accompanied by spastic paraparesis and adducted thumbs and, occasionally, visual defects or seizures. The most severe cases die pre- or perinatally with gross hydrocephalus and enlarged head circumference. Stenosis of the aqueduct of Sylvius is frequently associated with the disorder." []
synonym: "HSAS" [UniProt]
synonym: "Hydrocephalus due to stenosis of the aqueduct of Sylvius" [UniProt]
xref: MedGen:C0265216
xref: MedGen:C1844006
xref: MeSH:D006849
xref: MIM:307000 "phenotype"
[Term]
id: DI-01760
name: Hydrolethalus syndrome 1
def: "A lethal syndrome characterized by polydactyly, central nervous system malformation, and hydrocephalus. The polydactyly is postaxial in the hands and preaxial in the feet. A highly characteristic hallux duplex is seen in almost no other situation. In half of the cases, a large atrioventricular communis defect of the heart is found. The pregnancy is characterized by hydramnios, which is often massive, and by preterm delivery." []
xref: MedGen:C1856016
xref: MeSH:D006228
xref: MeSH:D006849
xref: MIM:236680 "phenotype"
[Term]
id: DI-01761
name: Greenberg dysplasia
def: "A rare autosomal recessive chondrodystrophy characterized by early in utero lethality. Affected fetuses typically present with fetal hydrops, short-limbed dwarfism, and a marked disorganization of chondro-osseous calcification, and ectopic ossification centers." []
synonym: "Chondrodystrophy, hydropic and prenatally lethal type" [UniProt]
synonym: "HEM skeletal dysplasia" [UniProt]
synonym: "Hydrops-ectopic calcification-moth-eaten skeletal dysplasia" [UniProt]
synonym: "Moth-eaten skeletal dysplasia" [UniProt]
xref: MedGen:C1300226
xref: MedGen:C2931048
xref: MeSH:D010009
xref: MIM:215140 "phenotype"
[Term]
id: DI-01763
name: Immunodeficiency with hyper-IgM 3
def: "A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections." []
synonym: "Hyper-IgM immunodeficiency type 3" [UniProt]
synonym: "Hyper-IgM syndrome 3" [UniProt]
xref: MedGen:C1720957
xref: MeSH:D053306
xref: MIM:606843 "phenotype"
[Term]
id: DI-01764
name: Hyperalphalipoproteinemia 1
def: "A condition characterized by high levels of high density lipoprotein (HDL) and increased HDL cholesterol levels." []
synonym: "CETP deficiency" [UniProt]
synonym: "Cholesteryl ester transfer protein deficiency" [UniProt]
xref: MedGen:C0342883
xref: MedGen:C3149462
xref: MedGen:C3149463
xref: MeSH:D006951
xref: MIM:143470 "phenotype"
[Term]
id: DI-01765
name: Immunodeficiency 43
def: "A disorder characterized by marked reduction in serum concentrations of immunoglobulins and albumin, and hypoproteinemia due to hypercatabolism. Patients may suffer from recurrent respiratory tract infections and severe skin disease." []
synonym: "B2M deficiency" [UniProt]
synonym: "Beta-2-microglobulin deficiency" [UniProt]
synonym: "Hypercatabolic hypoproteinemia" [UniProt]
synonym: "Hypoproteinemia, hypercatabolic" [UniProt]
synonym: "MHC class I deficiency 4" [UniProt]
synonym: "MHC1D4" [UniProt]
xref: MedGen:C1855796
xref: MeSH:D007153
xref: MIM:241600 "phenotype"
[Term]
id: DI-01766
name: HyperCKmia
def: "Characterized by persistent elevated levels of serum creatine kinase without muscle weakness." []
xref: MedGen:C0241005
xref: MIM:123320 "phenotype"
[Term]
id: DI-01767
name: Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections
def: "A rare disorder of immunity and connective tissue characterized by immunodeficiency, chronic eosinophilia, distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures." []
synonym: "Buckley syndrome" [UniProt]
synonym: "HIES autosomal dominant" [UniProt]
synonym: "Hyper-IgE recurrent infection syndrome 1, autosomal dominant" [UniProt]
synonym: "Hyper-IgE recurrent infection syndrome autosomal dominant" [UniProt]
synonym: "Hyper-IgE syndrome autosomal dominant" [UniProt]
synonym: "Hyperimmunoglobulin E syndrome type 1" [UniProt]
synonym: "Job syndrome" [UniProt]
xref: MedGen:C0022398
xref: MedGen:C2936739
xref: MedGen:C3489795
xref: MeSH:D007589
xref: MIM:147060 "phenotype"
[Term]
id: DI-01768
name: Hyperimmunoglobulinemia D and periodic fever syndrome
def: "Autosomal recessive disease characterized by recurrent episodes of unexplained high fever associated with skin rash, diarrhea, adenopathy (swollen, tender lymph nodes), arthralgias and/or arthritis. Concentration of IgD, and often IgA, are above normal." []
xref: MedGen:C0398691
xref: MIM:260920 "phenotype"
[Term]
id: DI-01769
name: Hyperinsulinemic hypoglycemia, familial, 6
def: "A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF6 is an autosomal dominant form characterized by hypoglycemia due to congenital hyperinsulinism combined with persistent hyperammonemia. Clinical features include loss of consciousness due to hypoglycemia, hypoglycemic seizures, and mental retardation." []
synonym: "Hyperinsulinism-hyperammonemia syndrome" [UniProt]
xref: MedGen:C1847555
xref: MeSH:D006946
xref: MeSH:D007003
xref: MIM:606762 "phenotype"
[Term]
id: DI-01770
name: Hyperlipoproteinemia 1B
def: "Autosomal recessive trait characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis." []
synonym: "APOC2 deficiency" [UniProt]
synonym: "Hyperlipoproteinemia type IB" [UniProt]
xref: MedGen:C1720779
xref: MIM:207750 "phenotype"
[Term]
id: DI-01771
name: Hyperlipoproteinemia 3
def: "A disorder characterized by the accumulation of intermediate-density lipoprotein particles (IDL or broad-beta-lipoprotein) rich in cholesterol. Clinical features include xanthomas, yellowish lipid deposits in the palmar crease, or less specific on tendons and on elbows. The disorder rarely manifests before the third decade in men. In women, it is usually expressed only after the menopause." []
synonym: "Broad beta disease" [UniProt]
synonym: "Broad-betalipoproteinemia" [UniProt]
synonym: "Deficiency or defect of apolipoprotein E" [UniProt]
synonym: "Dysbetalipoproteinemia due to defect in apolipoprotein E" [UniProt]
synonym: "Familial dysbetalipoproteinemia" [UniProt]
synonym: "Familial hyperbeta- and prebetalipoproteinemia" [UniProt]
synonym: "Familial hypercholesterolemia with hyperlipemia" [UniProt]
synonym: "Floating-betalipoproteinemia" [UniProt]
synonym: "Hyperlipemia with familial hypercholesterolemic xanthomatosis" [UniProt]
synonym: "Hyperlipoproteinemia type III" [UniProt]
xref: MedGen:C0020479
xref: MeSH:D006952
xref: MIM:617347 "phenotype"
[Term]
id: DI-01772
name: Hyperlipoproteinemia 5
def: "Characterized by increased amounts of chylomicrons and very low density lipoprotein (VLDL) and decreased low density lipoprotein (LDL) and high density lipoprotein (HDL) in the plasma after a fast. Numerous conditions cause this phenotype, including insulin-dependent diabetes mellitus, contraceptive steroids, alcohol abuse, and glycogen storage disease type 1A (GSD1A)." []
synonym: "Hyperlipoproteinemia type V" [UniProt]
xref: MedGen:C0020481
xref: MedGen:C3489395
xref: MIM:144650 "phenotype"
[Term]
id: DI-01773
name: Hyperlysinemia, 1
def: "An autosomal recessive metabolic condition with variable clinical features. Some patients present with non-specific seizures, hypotonia, or mildly delayed psychomotor development, and increased serum lysine and pipecolic acid on laboratory analysis. However, about half of the probands are reported to be asymptomatic, and hyperlysinemia is generally considered to be a benign metabolic variant." []
synonym: "Alpha-aminoadipic semialdehyde synthase deficiency" [UniProt]
synonym: "Hyperlysinemia type I" [UniProt]
synonym: "L-lysine:NAD-oxido-reductase deficiency" [UniProt]
synonym: "Lysine intolerance" [UniProt]
synonym: "Lysine:alpha-ketoglutarate reductase deficiency" [UniProt]
xref: MedGen:C0268553
xref: MedGen:C1282843
xref: MeSH:D020167
xref: MIM:238700 "phenotype"
[Term]
id: DI-01774
name: Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency
def: "A metabolic disorder characterized by hypermethioninemia associated with failure to thrive, mental and motor retardation, facial dysmorphism with abnormal hair and teeth, and myocardiopathy." []
xref: MedGen:C3151058
xref: MeSH:D000592
xref: MIM:613752 "phenotype"
[Term]
id: DI-01775
name: Hyperornithinemia with gyrate atrophy of choroid and retina
def: "A disorder clinically characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction of the visual fields leads to blindness at the latest during the sixth decade of life. Patients generally have normal intelligence." []
synonym: "GACR" [UniProt]
synonym: "Gyrate atrophy" [UniProt]
synonym: "Gyrate atrophy of choroid and retina" [UniProt]
synonym: "OAT deficiency" [UniProt]
synonym: "OKT deficiency" [UniProt]
synonym: "Ornithine aminotransferase deficiency" [UniProt]
synonym: "Ornithine keto acid aminotransferase deficiency" [UniProt]
synonym: "Ornithine-delta-aminotransferase deficiency" [UniProt]
xref: MedGen:C0599035
xref: MeSH:D015799
xref: MIM:258870 "phenotype"
[Term]
id: DI-01776
name: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
def: "An autosomal recessive disorder of the urea cycle characterized by onset in early life. The acute phase of the disease is characterized by vomiting, ataxia, lethargy, confusion, and coma. Chronic clinical manifestations include hypotonia, developmental delay, progressive encephalopathy with mental regression, and spastic paraparesis with pyramidal signs." []
synonym: "HHH syndrome" [UniProt]
synonym: "Ornithine translocase deficiency" [UniProt]
xref: MedGen:C0268540
xref: MeSH:D056806
xref: MIM:238970 "phenotype"
[Term]
id: DI-01778
name: Hyperoxaluria primary 1
def: "An inborn error of glyoxylate metabolism characterized by increased excretion of oxalate and glycolate, and progressive tissue accumulation of insoluble calcium oxalate. Affected individuals are at risk for nephrolithiasis, nephrocalcinosis and early onset end-stage renal disease." []
synonym: "Alanine-glyoxylate aminotransferase deficiency" [UniProt]
synonym: "Glycolic aciduria" [UniProt]
synonym: "Hepatic AGT deficiency" [UniProt]
synonym: "Hyperoxaluria primary type I" [UniProt]
synonym: "Oxalosis I" [UniProt]
synonym: "Peroxisomal alanine glyoxylate aminotransferase deficiency" [UniProt]
synonym: "PH1" [UniProt]
synonym: "Primary hyperoxaluria type I" [UniProt]
synonym: "Serine pyruvate aminotransferase deficiency" [UniProt]
xref: MedGen:C0268164
xref: MeSH:D006960
xref: MIM:259900 "phenotype"
[Term]
id: DI-01779
name: Hyperoxaluria primary 2
def: "A disorder characterized by elevated urinary excretion of oxalate and L-glycerate, progressive tissue accumulation of insoluble calcium oxalate, nephrolithiasis, nephrocalcinosis, and end-stage renal disease." []
synonym: "D-glycerate dehydrogenase deficiency" [UniProt]
synonym: "Glyceric aciduria" [UniProt]
synonym: "Glyoxylate reductase/hydroxypyruvate reductase deficiency" [UniProt]
synonym: "Hyperoxaluria primary type II" [UniProt]
synonym: "L-glyceric aciduria" [UniProt]
synonym: "Oxalosis II" [UniProt]
synonym: "PH2" [UniProt]
synonym: "Primary hyperoxaluria type II" [UniProt]
xref: MedGen:C0268165
xref: MeSH:D006960
xref: MIM:260000 "phenotype"
[Term]
id: DI-01780
name: Hyperparathyroidism 2 with jaw tumors
def: "An autosomal dominant neoplasia syndrome characterized by primary hyperparathyroidism, ossifying fibroma of the maxilla and/or mandible, renal tumor, and uterine tumors. It is associated with increased risk of parathyroid cancer." []
synonym: "Familial primary hyperparathyroidism with multiple ossifying jaw fibromas" [UniProt]
synonym: "HPT-JT" [UniProt]
synonym: "Hyperparathyroidism-jaw tumor syndrome" [UniProt]
xref: MedGen:C1704981
xref: MeSH:D049950
xref: MIM:145001 "phenotype"
[Term]
id: DI-01782
name: Hyperprolinemia 1
def: "An inborn error of proline metabolism resulting in elevated levels of proline in the plasma and urine. The disorder is generally benign and most affected individuals are clinically asymptomatic. Some patients, however, have neurologic manifestations, including epilepsy and intellectual disability. Association with certain forms of schizophrenia have been reported." []
synonym: "HPI" [UniProt]
synonym: "Hyperprolinemia type I" [UniProt]
synonym: "Proline oxidase deficiency" [UniProt]
xref: MedGen:C0268529
xref: MeSH:D000592
xref: MIM:239500 "phenotype"
[Term]
id: DI-01783
name: Hyperprolinemia 2
def: "An inborn error of proline metabolism resulting in elevated plasma levels of proline and delta-1-pyrroline-5-carboxylate (P5C). The condition is considered to be benign, but affected individuals can exhibit neurological manifestations that vary in severity. Clinical signs include seizures, intellectual deficit and mild developmental delay." []
synonym: "1-pyrroline-5-carboxylate dehydrogenase deficiency" [UniProt]
synonym: "HPII" [UniProt]
synonym: "Hyperprolinemia type II" [UniProt]
xref: MedGen:C2931835
xref: MeSH:D000592
xref: MIM:239510 "phenotype"
[Term]
id: DI-01785
name: Hyperthyroxinemia, dystransthyretinemic
def: "A condition characterized by elevation of total and free thyroxine in healthy, euthyroid persons without detectable binding protein abnormalities." []
synonym: "Dystransthyretinemic euthyroidal hyperthyroxinemia" [UniProt]
synonym: "Euthryroidal hyperthyroxinemia 2" [UniProt]
synonym: "Hyperthyroxinemia dysprealbuminemic" [UniProt]
synonym: "Hyperthyroxinemia dystransthyretinemic" [UniProt]
xref: MedGen:C2750824
xref: MeSH:D006981
xref: MIM:145680 "phenotype"
[Term]
id: DI-01786
name: Hypochondroplasia
def: "Autosomal dominant disease and is characterized by disproportionate short stature. It resembles achondroplasia, but with a less severe phenotype." []
xref: MedGen:C0410529
xref: MIM:146000 "phenotype"
[Term]
id: DI-01787
name: Anemia, hypochromic microcytic, with iron overload 1
def: "A hematologic disease characterized by abnormal hemoglobin content in the erythrocytes which are reduced in size. The disorder is due to an error of iron metabolism that results in high serum iron, massive hepatic iron deposition, and absence of sideroblasts and stainable bone marrow iron store. Despite adequate transferrin-iron complex, delivery of iron to the erythroid bone marrow is apparently insufficient for the demands of hemoglobin synthesis." []
synonym: "Hypochromic microcytic anemia" [UniProt]
xref: MedGen:C2673913
xref: MeSH:D000747
xref: MIM:206100 "phenotype"
[Term]
id: DI-01788
name: Tooth agenesis, selective, X-linked, 1
def: "A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth)." []
synonym: "Hypodontia/oligodontia X-linked 1" [UniProt]
xref: MedGen:C1970757
xref: MeSH:D000848
xref: MIM:313500 "phenotype"
[Term]
id: DI-01792
name: Hypoparathyroidism, sensorineural deafness, and renal disease
def: "A disease characterized by steroid-resistant nephrosis with progressive renal failure, hypoparathyroidism, sensorineural deafness, and renal dysplasia." []
synonym: "Barakat syndrome" [UniProt]
synonym: "Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome" [UniProt]
synonym: "Nephrosis, nerve deafness, and hypoparathyroidism" [UniProt]
xref: MedGen:C1840333
xref: MeSH:D006319
xref: MeSH:D007011
xref: MeSH:D009401
xref: MIM:146255 "phenotype"
[Term]
id: DI-01793
name: Hypoparathyroidism-retardation-dysmorphism syndrome
def: "An autosomal recessive multisystem disorder characterized by hypoparathyroidism, intrauterine and postnatal growth retardation, psychomotor retardation, epilepsy, microcephaly, and facial dysmorphism." []
synonym: "Sanjad-Sakati syndrome" [UniProt]
xref: MedGen:C1855840
xref: MeSH:D007011
xref: MeSH:D008607
xref: MeSH:D010009
xref: MIM:241410 "phenotype"
[Term]
id: DI-01796
name: Hypophosphatasia
def: "A metabolic bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. Four forms are distinguished, depending on the age of onset: perinatal, infantile, childhood and adult type. The perinatal form is the most severe and is almost always fatal. The adult form is mild and characterized by recurrent fractures, osteomalacia, rickets, and loss of teeth. Some cases are asymptomatic, while some patients manifest dental features without skeletal manifestations (odontohypophosphatasia)." []
synonym: "HPPA" [UniProt]
synonym: "Hypophosphatasia, adult" [UniProt]
synonym: "Hypophosphatasia, mild" [UniProt]
xref: MedGen:C0268413
xref: MedGen:C1840322
xref: MeSH:D007014
xref: MIM:146300 "phenotype"
[Term]
id: DI-01797
name: Nephrolithiasis/osteoporosis, hypophosphatemic, 1
def: "A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis." []
xref: MedGen:C2676786
xref: MeSH:D007015
xref: MeSH:D010024
xref: MeSH:D053040
xref: MIM:612286 "phenotype"
[Term]
id: DI-01798
name: Nephrolithiasis/osteoporosis, hypophosphatemic, 2
def: "A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis." []
xref: MedGen:C2676782
xref: MeSH:D007015
xref: MeSH:D010024
xref: MeSH:D053040
xref: MIM:612287 "phenotype"
[Term]
id: DI-01799
name: Hypoplastic left heart syndrome 1
def: "A syndrome due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged." []
xref: MedGen:C0152101
xref: MeSH:D018636
xref: MIM:241550 "phenotype"
[Term]
id: DI-01801
name: Hypotonia-cystinuria syndrome
def: "Characterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood." []
xref: MedGen:C1848030
xref: MIM:606407 "phenotype"
[Term]
id: DI-01802
name: Hypotrichosis 2
def: "A condition characterized by the presence of less than the normal amount of hair. Affected individuals have normal hair in early childhood but experience progressive hair loss limited to the scalp beginning in the middle of the first decade and almost complete baldness by the third decade. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. HYPT2 inheritance is autosomal dominant." []
synonym: "HTSS1" [UniProt]
synonym: "Hypotrichosis simplex of the scalp 1" [UniProt]
synonym: "Hypotrichosis Spanish type" [UniProt]
xref: MedGen:C1840299
xref: MeSH:D007039
xref: MIM:146520 "phenotype"
[Term]
id: DI-01803
name: Hypotrichosis congenital with juvenile macular dystrophy
def: "A disorder characterized by congenital hypotrichosis, early hair loss, and severe degenerative changes of the retinal macula that culminate in blindness during the second to third decade of life." []
synonym: "Hypotrichosis with cone-rod dystrophy" [UniProt]
xref: MedGen:C1832162
xref: MeSH:D007039
xref: MIM:601553 "phenotype"
[Term]
id: DI-01804
name: Hypotrichosis-lymphedema-telangiectasia syndrome
def: "A syndrome characterized by absent eyebrows and eyelashes, lymphatic edemas of the inferior members or eyelids, and peripheral vein anomalies." []
xref: MedGen:C1843004
xref: MeSH:D007039
xref: MeSH:D008209
xref: MeSH:D013684
xref: MIM:607823 "phenotype"
[Term]
id: DI-01805
name: Immunodeficiency, common variable, 1
def: "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low." []
synonym: "Antibody deficiency due to ICOS defect" [UniProt]
synonym: "ICOS deficiency" [UniProt]
xref: MedGen:C0009447
xref: MedGen:C3149378
xref: MeSH:D017074
xref: MIM:607594 "phenotype"
[Term]
id: DI-01806
name: Arterial calcification of infancy, generalized, 1
def: "A severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure." []
synonym: "GACI" [UniProt]
synonym: "Generalized arterial calcification of infancy" [UniProt]
synonym: "Idiopathic infantile arterial calcification" [UniProt]
synonym: "IIAC" [UniProt]
synonym: "Occlusive infantile arteriopathy" [UniProt]
xref: MedGen:C1859727
xref: MedGen:C1859728
xref: MeSH:D061205
xref: MIM:208000 "phenotype"
[Term]
id: DI-01807
name: Short stature, idiopathic, X-linked
def: "A condition defined by a standing height more than 2 standard deviations below the mean (or below the 2.5 percentile) for sex and chronological age, compared with a well-nourished, genetically relevant population, in the absence of specific causative disorders." []
xref: MedGen:C1845118
xref: MeSH:D004392
xref: MIM:300582 "phenotype"
[Term]
id: DI-01808
name: Familial paroxysmal ventricular fibrillation 1
def: "A cardiac arrhythmia marked by fibrillary contractions of the ventricular muscle due to rapid repetitive excitation of myocardial fibers without coordinated contraction of the ventricle and by absence of atrial activity." []
synonym: "IVF" [UniProt]
synonym: "Susceptibility to ventricular fibrillation during myocardial infarction" [UniProt]
synonym: "Ventricular fibrillation, paroxysmal familial, 1" [UniProt]
synonym: "VF" [UniProt]
xref: MedGen:C2751898
xref: MeSH:D014693
xref: MIM:603829 "phenotype"
[Term]
id: DI-01809
name: IgA nephropathy
def: "Most common primary glomerulonephritis, which is partly due to aberrant or incomplete galactosylation of IgA1 molecules." []
xref: MedGen:C0017661
xref: MedGen:C3160719
xref: MIM:161950 "phenotype"
[Term]
id: DI-01810
name: Immunodeficiency due to defect in MAPBP-interacting protein
def: "This form of primary immunodeficiency syndrome includes congenital neutropenia, partial albinism, short stature and B-cell and cytotoxic T-cell deficiency." []
xref: MedGen:C1835829
xref: MIM:610798 "phenotype"
[Term]
id: DI-01811
name: Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome
def: "Characterized by neonatal onset insulin-dependent diabetes mellitus, infections, secretory diarrhea, thrombocytopenia, anemia and eczema. It is usually lethal in infancy." []
synonym: "X-linked autoimmunity-immunodeficiency syndrome" [UniProt]
xref: MedGen:C0342288
xref: MedGen:C1844663
xref: MIM:304790 "phenotype"
[Term]
id: DI-01812
name: Immunodeficiency with hyper-IgM 5
def: "A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections." []
synonym: "Hyper-IgM immunodeficiency type 5" [UniProt]
synonym: "Hyper-IgM syndrome 5" [UniProt]
xref: MedGen:C1720958
xref: MeSH:D053306
xref: MIM:608106 "phenotype"
[Term]
id: DI-01813
name: Immunodeficiency-centromeric instability-facial anomalies syndrome 1
def: "A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients." []
synonym: "Centromeric instability immunodeficiency syndrome" [UniProt]
synonym: "CIID" [UniProt]
synonym: "ICF syndrome" [UniProt]
synonym: "Variable immune deficiency with centromeric instability of chromosomes 1 9 and 16" [UniProt]
synonym: "Variable immunodeficiency syndrome" [UniProt]
xref: MedGen:C0398788
xref: MeSH:D007153
xref: MeSH:D043171
xref: MIM:242860 "phenotype"
[Term]
id: DI-01814
name: Immunoglobulin A deficiency 2
def: "Selective deficiency of immunoglobulin A (IGAD) is the most common form of primary immunodeficiency, with an incidence of approximately 1 in 600 individuals in the western world. Individuals with symptomatic IGAD often have deficiency of IgG subclasses or decreased antibody response to carbohydrate antigens such as pneumococcal polysaccharide vaccine. Individuals with IGAD also suffer from recurrent sinopulmonary and gastrointestinal infections and have an increased incidence of autoimmune disorders and of lymphoid and non-lymphoid malignancies. In vitro studies have suggested that some individuals with IGAD have impaired isotype class switching to IgA and others may have a post-switch defect. IGAD and CVID have been known to coexist in families. Some individuals initially present with IGAD1 and then develop CVID. These observations suggest that some cases of IGAD and CVID may have a common etiology." []
xref: MedGen:C1836032
xref: MIM:609529 "phenotype"
[Term]
id: DI-01816
name: Congenital myopathy 6 with ophthalmoplegia
def: "A muscular disorder characterized by mild-to-moderate muscle weakness, ophthalmoplegia, and contractures at birth in some patients. Muscle biopsies from patients show predominance of type 1 fibers and small or absent type 2A fibers. The disease is non-progressive or it progresses very slowly. Inheritance is autosomal dominant or recessive." []
synonym: "IBM3" [UniProt]
synonym: "Inclusion body myopathy 3" [UniProt]
synonym: "Inclusion body myopathy 3, autosomal dominant" [UniProt]
synonym: "Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles" [UniProt]
synonym: "Myopathy, proximal, with ophthalmoplegia" [UniProt]
synonym: "MYPOP" [UniProt]
synonym: "Proximal myopathy and ophthalmoplegia" [UniProt]
xref: MedGen:C1854106
xref: MeSH:D003286
xref: MeSH:D009886
xref: MeSH:D018979
xref: MIM:605637 "phenotype"
[Term]
id: DI-01817
name: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1
def: "An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance." []
synonym: "Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia" [UniProt]
synonym: "Limb-girdle muscular dystrophy with Paget disease of bone" [UniProt]
synonym: "Lower motor neuron degeneration with Paget-like bone disease" [UniProt]
synonym: "Pagetoid amyotrophic lateral sclerosis" [UniProt]
synonym: "Pagetoid neuroskeletal syndrome" [UniProt]
xref: MedGen:C1833662
xref: MeSH:D010001
xref: MeSH:D018979
xref: MeSH:D049288
xref: MeSH:D057180
xref: MIM:167320 "phenotype"
[Term]
id: DI-01818
name: Mitochondrial infantile bilateral striatal necrosis
def: "Bilateral striatal necrosis is a neurological disorder resembling Leigh syndrome." []
xref: MedGen:C1839022
xref: MIM:500003 "phenotype"
[Term]
id: DI-01819
name: Neurodegeneration with brain iron accumulation 2A
def: "A neurodegenerative disease characterized by pathologic axonal swelling and spheroid bodies in the central nervous system. Onset is within the first 2 years of life with death by age 10 years." []
synonym: "INAD" [UniProt]
synonym: "INAD1" [UniProt]
synonym: "Infantile neuroaxonal dystrophy" [UniProt]
synonym: "Infantile neuroaxonal dystrophy 1" [UniProt]
synonym: "Neurodegeneration PLA2G6-associated" [UniProt]
synonym: "PLAN" [UniProt]
synonym: "Seitelberger disease" [UniProt]
xref: MedGen:C0270724
xref: MedGen:C0751718
xref: MeSH:D019150
xref: MIM:256600 "phenotype"
[Term]
id: DI-01820
name: Infantile sialic acid storage disorder
def: "Severe form of sialic acid storage disease. Affected newborns exhibit visceromegaly, coarse features and failure to thrive immediately after birth. These patients have a shortened life span, usually less than 2 years." []
synonym: "N-acetylneuraminic acid storage disease" [UniProt]
synonym: "NSD" [UniProt]
xref: MedGen:C1096902
xref: MedGen:C2930923
xref: MIM:269920 "phenotype"
[Term]
id: DI-01821
name: Infantile striatonigral degeneration
def: "Neurological disorder characterized by symmetrical degeneration of the caudate nucleus, putamen, and occasionally the globus pallidus, with little involvement of the rest of the brain. The clinical features include developmental regression, choreoathetosis, dystonia, spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy, and intellectual disability." []
synonym: "Familial striatal degeneration" [UniProt]
synonym: "IBSN" [UniProt]
synonym: "Infantile bilateral striatal necrosis" [UniProt]
xref: MedGen:C0795996
xref: MIM:271930 "phenotype"
[Term]
id: DI-01823
name: Infantile-onset ascending spastic paralysis
def: "Characterized by progressive spasticity and weakness of limbs." []
xref: MedGen:C1846588
xref: MedGen:C2931441
xref: MIM:607225 "phenotype"
[Term]
id: DI-01824
name: Inflammatory demyelinating polyneuropathy
def: "Putative autoimmune disorder presenting in an acute (AIDP) or chronic form (CIDP). The acute form is also known as Guillain-Barre syndrome." []
xref: MedGen:C0018378
xref: MedGen:C0393819
xref: MedGen:C1841700
xref: MIM:139393 "phenotype"
[Term]
id: DI-01825
name: Inosine triphosphate pyrophosphohydrolase deficiency
def: "A common inherited condition characterized by the abnormal accumulation of inosine triphosphate in erythrocytes. It might have pharmacogenomic implications and be related to increased drug toxicity of purine analog drugs." []
xref: MedGen:C0342800
xref: MedGen:C1840173
xref: MeSH:D008661
xref: MIM:613850 "phenotype"
[Term]
id: DI-01826
name: Type 1 diabetes mellitus
def: "A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels." []
synonym: "Diabetes mellitus, insulin-dependent" [UniProt]
synonym: "IDDM" [UniProt]
xref: MedGen:C0011854
xref: MeSH:D003922
xref: MIM:222100 "phenotype"
[Term]
id: DI-01827
name: Insulin-like growth factor I deficiency
def: "An autosomal recessive disorder characterized by growth retardation, sensorineural deafness and intellectual disability." []
synonym: "Growth retardation with sensorineural deafness and mental retardation" [UniProt]
synonym: "IGF1 deficiency" [UniProt]
xref: MedGen:C1837475
xref: MeSH:D004700
xref: MeSH:D006130
xref: MIM:608747 "phenotype"
[Term]
id: DI-01828
name: Insulin-resistant diabetes mellitus with acanthosis nigricans type A
def: "Characterized by the association of severe insulin resistance (manifested by marked hyperinsulinemia and a failure to respond to exogenous insulin) with the skin lesion acanthosis nigricans and ovarian hyperandrogenism in adolescent female subjects. Women frequently present with hirsutism, acne, amenorrhea or oligomenorrhea, and virilization. This syndrome is different from the type B that has been demonstrated to be secondary to the presence of circulating autoantibodies against the insulin receptor." []
xref: MedGen:C0271690
xref: MedGen:C0342278
xref: MIM:610549 "phenotype"
[Term]
id: DI-01829
name: Intervertebral disc disease
def: "A common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain." []
synonym: "Intervertebral disk disease" [UniProt]
synonym: "LDD" [UniProt]
synonym: "LDH" [UniProt]
synonym: "Lumbar disc degeneration" [UniProt]
synonym: "Lumbar disc disease" [UniProt]
synonym: "Lumbar disc herniation" [UniProt]
xref: MedGen:C0158252
xref: MedGen:C0221775
xref: MedGen:C2675551
xref: MedGen:C2676840
xref: MeSH:D007405
xref: MeSH:D055959
xref: MIM:603932 "phenotype"
[Term]
id: DI-01830
name: Intracardiac myxoma
def: "Inheritance is autosomal recessive." []
xref: MedGen:C1850635
xref: MedGen:C2931787
xref: MIM:255960 "phenotype"
[Term]
id: DI-01831
name: Immunodeficiency 67
def: "An autosomal recessive primary immunodeficiency characterized by recurrent, life-threatening systemic and invasive bacterial infections beginning in infancy or early childhood." []
synonym: "IPD1" [UniProt]
synonym: "IRAK4 deficiency" [UniProt]
synonym: "IRAK4D" [UniProt]
synonym: "Recurrent isolated invasive pneumococcal disease 1" [UniProt]
xref: MedGen:C1843256
xref: MeSH:D007153
xref: MIM:607676 "phenotype"
[Term]
id: DI-01832
name: Anterior segment dysgenesis 3
def: "A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD3 inheritance is autosomal dominant." []
synonym: "Glaucoma iridogoniodysplasia, familial" [UniProt]
synonym: "IGDA" [UniProt]
synonym: "Irid1" [UniProt]
synonym: "Iridogoniodysgenesis anomaly" [UniProt]
synonym: "Iridogoniodysgenesis anomaly, autosomal dominant" [UniProt]
synonym: "Iridogoniodysgenesis, type 1" [UniProt]
synonym: "Iris hypoplasia with glaucoma" [UniProt]
xref: MedGen:C1839928
xref: MedGen:C1866560
xref: MedGen:C1866561
xref: MeSH:D005124
xref: MIM:601631 "phenotype"
[Term]
id: DI-01833
name: Anterior segment dysgenesis 4
def: "A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD4 is an autosomal dominant disease." []
synonym: "IGDS2" [UniProt]
synonym: "IHGA" [UniProt]
synonym: "IRID2" [UniProt]
synonym: "Iridogoniodysgenesis syndrome 2" [UniProt]
synonym: "Iridogoniodysgenesis type 2" [UniProt]
synonym: "Iris hypoplasia with early-onset glaucoma, autosomal dominant" [UniProt]
xref: MedGen:C1842031
xref: MeSH:D005124
xref: MIM:137600 "phenotype"
[Term]
id: DI-01834
name: Iron-refractory iron deficiency anemia
def: "Key features include congenital hypochromic microcytic anemia, very low mean corpuscular erythrocyte volume, low transferrin saturation, abnormal iron absorption characterized by no hematologic improvement following treatment with oral iron, and abnormal iron utilization characterized by a sluggish, incomplete response to parenteral iron." []
synonym: "Hereditary iron-handling disorder" [UniProt]
synonym: "Hypochromic microcytic anemia with defect in iron metabolism" [UniProt]
synonym: "Pseudo-iron-deficiency anemia" [UniProt]
xref: MedGen:C0085576
xref: MIM:206200 "phenotype"
[Term]
id: DI-01835
name: Ischemic stroke
def: "A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors." []
synonym: "Cerebral infarction" [UniProt]
synonym: "Cerebrovascular accident" [UniProt]
xref: MedGen:C0038454
xref: MedGen:C0948008
xref: MIM:601367 "phenotype"
[Term]
id: DI-01836
name: Isobutyryl-CoA dehydrogenase deficiency
def: "An autosomal recessive metabolic disorder characterized by plasma carnitine deficiency and elevated C4-acylcarnitine. Patients manifest variable clinical features including failure to thrive, seizures, anemia, muscular hypotonia and developmental delay. Some patients may be asymptomatic." []
synonym: "ACAD8 deficiency" [UniProt]
synonym: "Deficiency of acyl-CoA dehydrogenase family member 8" [UniProt]
synonym: "IBD deficiency" [UniProt]
xref: MedGen:C1969809
xref: MeSH:D008661
xref: MIM:611283 "phenotype"
[Term]
id: DI-01837
name: Cleft palate isolated
def: "A congenital fissure of the soft and/or hard palate, due to faulty fusion. Isolated cleft palate is not associated with cleft lips. Some patients may manifest other craniofacial dysmorphic features, intellectual disability, and osteoporosis." []
synonym: "CP" [UniProt]
xref: MedGen:C0008925
xref: MedGen:C1837218
xref: MedGen:C1970095
xref: MeSH:D002972
xref: MIM:119540 "phenotype"
[Term]
id: DI-01838
name: Nephrotic syndrome 4
def: "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. Most patients with NPHS4 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen." []
synonym: "Isolated diffuse mesangial sclerosis" [UniProt]
xref: MedGen:C0268747
xref: MedGen:C3151568
xref: MeSH:D009404
xref: MIM:256370 "phenotype"
[Term]
id: DI-01839
name: Ectopia lentis 1, isolated, autosomal dominant
def: "An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation." []
xref: MedGen:C1851286
xref: MedGen:C2746069
xref: MedGen:C3149104
xref: MedGen:C3541518
xref: MeSH:D004479
xref: MIM:129600 "phenotype"
[Term]
id: DI-01840
name: Hypogonadotropic hypogonadism 24 with or without anosmia
def: "A form of hypogonadotropic hypogonadism, a group of disorders characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic- pituitary axis. HH24 is characterized by primary amenorrhea in women, oligo or azoospermia with low to normal testosterone levels in men, and infertility." []
synonym: "Follicle-stimulating hormone deficiency, isolated" [UniProt]
xref: MedGen:C1856716
xref: MeSH:D007006
xref: MeSH:D007246
xref: MIM:229070 "phenotype"
[Term]
id: DI-01841
name: Growth hormone deficiency, isolated, 1A
def: "An autosomal recessive, severe deficiency of growth hormone leading to dwarfism. Patients often develop antibodies to administered growth hormone." []
synonym: "Growth hormone deficiency isolated autosomal recessive" [UniProt]
synonym: "IGHD IA" [UniProt]
synonym: "Illig-type growth hormone deficiency" [UniProt]
synonym: "Isolated growth hormone deficiency type IA" [UniProt]
synonym: "Pituitary dwarfism I" [UniProt]
synonym: "Primordial dwarfism" [UniProt]
synonym: "Sexual ateleiotic dwarfism" [UniProt]
xref: MedGen:C0342573
xref: MeSH:D004393
xref: MIM:262400 "phenotype"
[Term]
id: DI-01842
name: Growth hormone deficiency, isolated, 2
def: "An autosomal dominant deficiency of growth hormone leading to short stature. Clinical severity is variable. Patients have a positive response and immunologic tolerance to growth hormone therapy." []
synonym: "Growth hormone deficiency isolated autosomal dominant" [UniProt]
synonym: "IGHD II" [UniProt]
synonym: "Isolated growth hormone deficiency type II" [UniProt]
synonym: "Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant" [UniProt]
xref: MedGen:C0271567
xref: MeSH:D004393
xref: MIM:173100 "phenotype"
[Term]
id: DI-01843
name: Sulfite oxidase deficiency, isolated
def: "A life-threatening, autosomal recessive neurometabolic disorder characterized by severe neurological impairment. Classic ISOD manifests in the first few hours to days of life and is characterized by intractable seizures, feeding difficulties, rapidly progressive encephalopathy, microcephaly, and profound intellectual disability. Children usually die during the first few months of life. Mild ISOD manifests in infancy or early childhood and is characterized by ectopia lentis that is variably present, developmental delay and regression, movement disorder characterized by dystonia and choreoathetosis, ataxia, and rarely acute hemiplegia due to metabolic stroke." []
synonym: "Sulfocysteinuria" [UniProt]
xref: MedGen:C0268624
xref: MedGen:C2931746
xref: MedGen:CN068763
xref: MeSH:D020739
xref: MIM:272300 "phenotype"
[Term]
id: DI-01844
name: Nail disorder, non-syndromic congenital, 8
def: "A nail disorder characterized by isolated toenail dystrophy. The nail changes are most severe in the great toes and consist of the nail plate being buried in the nail bed with a deformed and narrow free edge." []
synonym: "Isolated toenail dystrophy" [UniProt]
synonym: "Isolated toenail dystrophy without skin fragility" [UniProt]
xref: MedGen:C1843761
xref: MeSH:D009260
xref: MIM:607523 "phenotype"
[Term]
id: DI-01845
name: Isovaleric acidemia
def: "A metabolic disorder characterized by retarded psychomotor development, a peculiar odor resembling sweaty feet, an aversion to dietary protein, and pernicious vomiting, leading to acidosis and coma. The acute neonatal form leads to massive metabolic acidosis from the first days of life and rapid death." []
synonym: "Isovaleric acid CoA dehydrogenase deficiency" [UniProt]
synonym: "IVD deficiency" [UniProt]
xref: MedGen:C0268575
xref: MedGen:CN068671
xref: MeSH:D000592
xref: MIM:243500 "phenotype"
[Term]
id: DI-01846
name: IVIC syndrome
def: "An autosomal dominant condition characterized by upper limbs anomalies (radial ray defects, carpal bones fusion), extraocular motor disturbances, congenital bilateral non-progressive mixed hearing loss. Other less consistent malformations include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation or rectovaginal fistula. The IVIC syndrome is an allelic disorder of Duane-radial ray syndrome with a similar phenotype." []
synonym: "Oculootoradial syndrome" [UniProt]
synonym: "Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia" [UniProt]
xref: MedGen:C1327918
xref: MeSH:D000015
xref: MIM:147750 "phenotype"
[Term]
id: DI-01847
name: Metaphyseal chondrodysplasia, Jansen type
def: "A rare autosomal dominant disorder characterized by a short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two parathyroid hormones." []
synonym: "Metaphyseal chondrodysplasia, Murk Jansen type" [UniProt]
xref: MedGen:C0265295
xref: MeSH:D010009
xref: MIM:156400 "phenotype"
[Term]
id: DI-01849
name: Johanson-Blizzard syndrome
def: "This disorder includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and intellectual disability. Pancreas of individuals with JBS do not express UBR1 and show intrauterine-onset destructive pancreatitis." []
xref: MedGen:C0175692
xref: MIM:243800 "phenotype"
[Term]
id: DI-01850
name: Hyaline fibromatosis syndrome
def: "An autosomal recessive syndrome characterized by abnormal growth of hyalinized fibrous tissue usually affecting subcutaneous regions on the scalp, ears, neck, face, hands, and feet. The lesions appear as pearly papules or fleshy nodules. Additional features include gingival hypertrophy, progressive joint contractures resulting in severe limitation of mobility, osteopenia, and osteoporosis. Disease severity is variable. Some individuals manifest symptoms in infancy and have additional visceral or systemic involvement. Hyaline deposits in multiple organs, recurrent infections and intractable diarrhea often lead to early death. Surviving children may suffer from severely reduced mobility due to joint contractures. Other patients have later onset of a milder disorder affecting only the face and digits." []
synonym: "Infantile systemic hyalinosis" [UniProt]
synonym: "ISH" [UniProt]
synonym: "JHF" [UniProt]
synonym: "Juvenile hyaline fibromatosis" [UniProt]
synonym: "Systemic hyalinosis" [UniProt]
xref: MedGen:C0406578
xref: MedGen:C2745948
xref: MeSH:D057770
xref: MIM:228600 "phenotype"
[Term]
id: DI-01851
name: Leukemia, juvenile myelomonocytic
def: "An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages." []
synonym: "Juvenile chronic myelogenous leukemia" [UniProt]
xref: MedGen:C0023480
xref: MedGen:C0349639
xref: MeSH:D054429
xref: MIM:607785 "phenotype"
[Term]
id: DI-01852
name: Paget disease of bone 5, juvenile-onset
def: "An autosomal recessive, juvenile-onset form of Paget disease, a disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone. PDB5 clinical manifestations include short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness." []
synonym: "Chronic congenital idiopathic hyperphosphatasia" [UniProt]
synonym: "Hereditary hyperphosphatasia" [UniProt]
synonym: "Hyperostosis corticalis deformans juvenilis" [UniProt]
synonym: "JPD" [UniProt]
synonym: "Juvenile Paget disease" [UniProt]
synonym: "Osteoectasia, familial" [UniProt]
xref: MedGen:C0268414
xref: MeSH:D010001
xref: MIM:239000 "phenotype"
[Term]
id: DI-01853
name: Periodontititis, aggressive, 1
def: "A disease characterized by severe and protracted gingival infections, generalized or localized, leading to tooth loss. Amounts of microbial deposits are generally inconsistent with the severity of periodontal tissue destruction and the progression of attachment and bone loss may be self arresting." []
synonym: "JPD" [UniProt]
synonym: "Juvenile periodontitis" [UniProt]
synonym: "PPP" [UniProt]
synonym: "Prepubertal periodontitis" [UniProt]
xref: MedGen:C0031106
xref: MeSH:D010520
xref: MIM:170650 "phenotype"
[Term]
id: DI-01854
name: Juvenile polyposis syndrome
def: "Autosomal dominant gastrointestinal hamartomatous polyposis syndrome in which patients are at risk for developing gastrointestinal cancers. The lesions are typified by a smooth histological appearance, predominant stroma, cystic spaces and lack of a smooth muscle core. Multiple juvenile polyps usually occur in a number of Mendelian disorders. Sometimes, these polyps occur without associated features as in JPS; here, polyps tend to occur in the large bowel and are associated with an increased risk of colon and other gastrointestinal cancers." []
synonym: "JIP" [UniProt]
synonym: "Juvenile intestinal polyposis" [UniProt]
xref: MedGen:C0345893
xref: MedGen:C1832940
xref: MedGen:C1868081
xref: MIM:174900 "phenotype"
[Term]
id: DI-01855
name: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
def: "JP/HHT syndrome phenotype consists of the coexistence of juvenile polyposis (JIP) and hereditary hemorrhagic telangiectasia (HHT) [MIM:187300] in a single individual. JIP and HHT are autosomal dominant disorders with distinct and non-overlapping clinical features. The former, an inherited gastrointestinal malignancy predisposition, is caused by mutations in SMAD4 or BMPR1A, and the latter is a vascular malformation disorder caused by mutations in ENG or ACVRL1. All four genes encode proteins involved in the transforming-growth-factor-signaling pathway. Although there are reports of patients and families with phenotypes of both disorders combined, the genetic etiology of this association is unknown." []
xref: MedGen:C1832942
xref: MIM:175050 "phenotype"
[Term]
id: DI-01857
name: Kanzaki disease
def: "Autosomal recessive disorder characterized by late-onset, angiokeratoma corporis diffusum and mild intellectual impairment." []
synonym: "NAGA deficiency type II" [UniProt]
synonym: "Schindler disease type II" [UniProt]
xref: MedGen:C1836522
xref: MIM:609242 "phenotype"
[Term]
id: DI-01859
name: Kenny-Caffey syndrome 1
def: "An autosomal recessive form of Kenny-Caffey syndrome, a disorder characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism with hypocalcemia. Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia, and frontal bossing with a triangular face." []
synonym: "KCS" [UniProt]
synonym: "Kenny-Caffey syndrome autosomal recessive" [UniProt]
xref: MedGen:C1855648
xref: MeSH:D006958
xref: MIM:244460 "phenotype"
[Term]
id: DI-01860
name: Keratinocytic non-epidermolytic nevus
def: "Epidermal nevi of the common, non-organoid and non-epidermolytic type are benign skin lesions and may vary in their extent from a single (usually linear) lesion to widespread and systematized involvement. They may be present at birth or develop early during childhood." []
synonym: "Pigmented moles" [UniProt]
xref: MedGen:C0334082
xref: MedGen:C3665593
xref: MIM:162900 "phenotype"
[Term]
id: DI-01861
name: Keratoconus 1
def: "Frequent corneal dystrophy with an incidence that varies from 50 to 230 per 100'000. The cornea assumes a conical shape as a result of a progressive non-inflammatory thinning of the corneal stroma. Keratoconus is most often an isolated sporadic condition with cases of autosomal dominant and autosomal recessive transmission." []
xref: MedGen:C1835677
xref: MIM:148300 "phenotype"
[Term]
id: DI-01862
name: Keratosis follicularis spinulosa decalvans X-linked
def: "A rare disorder affecting the skin and the eye. Affected men show thickening of the skin of the neck, ears, and extremities, especially the palms and soles, loss of eyebrows, eyelashes and beard, thickening of the eyelids with blepharitis and ectropion, and corneal degeneration." []
synonym: "Keratosis follicularis spinulosa decalvans cum ophiasi" [UniProt]
synonym: "Siemens-1 syndrome" [UniProt]
xref: MedGen:C0343057
xref: MeSH:D007642
xref: MIM:308800 "phenotype"
[Term]
id: DI-01863
name: Succinyl-CoA:3-oxoacid CoA transferase deficiency
def: "A disorder of ketone body metabolism, characterized by episodic ketoacidosis. Patients are usually asymptomatic between episodes." []
synonym: "Ketoacidosis due to SCOT deficiency" [UniProt]
synonym: "SCOT deficiency" [UniProt]
synonym: "Succinyl-CoA-3-ketoacid-CoA transferase deficiency" [UniProt]
synonym: "Succinyl-CoA:3-ketoacid CoA-transferase deficiency" [UniProt]
synonym: "Succinyl-CoA:3-ketoacid-CoA transferase deficiency" [UniProt]
synonym: "Succinyl-CoA:acetoacetate transferase deficiency" [UniProt]
xref: MedGen:C0342792
xref: MeSH:D007662
xref: MIM:245050 "phenotype"
[Term]
id: DI-01864
name: Keutel syndrome
def: "An autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis neural hearing loss and midfacial hypoplasia." []
xref: MedGen:C1855607
xref: MIM:245150 "phenotype"
[Term]
id: DI-01865
name: Kindler syndrome
def: "An autosomal recessive skin disorder characterized by skin blistering, photosensitivity, progressive poikiloderma, and extensive skin atrophy. Additional clinical features include gingival erosions, ocular, esophageal, gastrointestinal and urogenital involvement, and an increased risk of mucocutaneous malignancy." []
synonym: "Bullous acrokeratotic poikiloderma of Kindler and Weary" [UniProt]
synonym: "Poikiloderma congenital with bullae Weary type" [UniProt]
synonym: "Poikiloderma hereditary acrokeratotic" [UniProt]
xref: MedGen:C0406556
xref: MedGen:C0406557
xref: MeSH:D012868
xref: MIM:173650 "phenotype"
[Term]
id: DI-01866
name: Klippel-Trenaunay syndrome
def: "Congenital disease characterized by malformations of capillary (98% of KTS patients), venous (72%) and lymphatic (11%) vessels, and bony and soft tissue hypertrophy that leads to large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues." []
xref: MedGen:C0022739
xref: MIM:149000 "phenotype"
[Term]
id: DI-01867
name: Kniest dysplasia
def: "Moderately severe chondrodysplasia phenotype that results from mutations in the COL2A1 gene. Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss." []
synonym: "Kniest syndrome" [UniProt]
synonym: "KS" [UniProt]
synonym: "Metatropic dwarfism type II" [UniProt]
xref: MedGen:C0265279
xref: MIM:156550 "phenotype"
[Term]
id: DI-01868
name: Knobloch syndrome 1
def: "A developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia." []
synonym: "KNO" [UniProt]
synonym: "Retinal detachment and occipital encephalocele" [UniProt]
xref: MedGen:C1849409
xref: MeSH:D004677
xref: MeSH:D012163
xref: MIM:267750 "phenotype"
[Term]
id: DI-01869
name: Kowarski syndrome
def: "A syndrome clinically characterized by short stature associated with bioinactive growth hormone, normal or slightly increased growth hormone secretion, pathologically low insulin-like growth factor 1 levels, and normal catch-up growth on growth hormone replacement therapy." []
synonym: "Biodefective growth hormone" [UniProt]
synonym: "Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin" [UniProt]
xref: MedGen:C1849779
xref: MeSH:D004393
xref: MIM:262650 "phenotype"
[Term]
id: DI-01870
name: Kufor-Rakeb syndrome
def: "A rare form of autosomal recessive juvenile or early-onset, levodopa- responsive parkinsonism. In addition to typical parkinsonian signs, clinical manifestations of Kufor-Rakeb syndrome include behavioral problems, facial tremor, pyramidal tract dysfunction, supranuclear gaze palsy, and dementia." []
synonym: "KRPPD" [UniProt]
synonym: "Pallidopyramidal degeneration with supranuclear upgaze paresis and dementia" [UniProt]
synonym: "PARK9" [UniProt]
synonym: "Parkinson disease 9" [UniProt]
synonym: "Parkinson disease autosomal recessive 9" [UniProt]
xref: MedGen:C1847640
xref: MeSH:D020734
xref: MIM:606693 "phenotype"
[Term]
id: DI-01871
name: Kuru
def: "Kuru is transmitted during ritualistic cannibalism, among natives of the New Guinea highlands. Patients exhibit various movement disorders like cerebellar abnormalities, rigidity of the limbs, and clonus. Emotional lability is present, and dementia is conspicuously absent. Death usually occurs from 3 to 12 month after onset." []
xref: MedGen:C1855588
xref: MIM:245300 "phenotype"
[Term]
id: DI-01872
name: Pyruvate dehydrogenase E3-binding protein deficiency
def: "A metabolic disorder characterized by decreased activity of the pyruvate dehydrogenase complex without observable reduction in the activities of enzymes E1, E2, or E3. Clinical features include hypotonia and psychomotor retardation." []
synonym: "Lactic acidemia due to defect in lipoyl-containing component X of the pyruvate dehydrogenase complex" [UniProt]
synonym: "Lacticacidemia due to PDX1 deficiency" [UniProt]
xref: MedGen:C1855553
xref: MeSH:D000140
xref: MIM:245349 "phenotype"
[Term]
id: DI-01873
name: Myopathy, distal, 1
def: "A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease." []
synonym: "Distal myopathy 1" [UniProt]
synonym: "Laing distal myopathy" [UniProt]
synonym: "Laing early-onset distal myopathy" [UniProt]
synonym: "Myopathy distal early-onset autosomal dominant" [UniProt]
synonym: "Myopathy late distal hereditary" [UniProt]
xref: MedGen:CN074249
xref: MeSH:D049310
xref: MIM:160500 "phenotype"
[Term]
id: DI-01874
name: Cataract 23, multiple types
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT23 is a zonular cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes." []
synonym: "Isolated microphthalmia with cataract 4" [UniProt]
synonym: "Lamellar cataract 23" [UniProt]
synonym: "MCOPCT4" [UniProt]
xref: MedGen:C1864879
xref: MeSH:D002386
xref: MIM:610425 "phenotype"
[Term]
id: DI-01876
name: Langer mesomelic dysplasia
def: "Autosomal recessive rare skeletal dysplasia characterized by severe short stature owing to shortening and maldevelopment of the mesomelic and rhizomelic segments of the limbs. Associated malformations are rarely reported and intellect is normal in all affected subjects reported to date." []
xref: MedGen:C0432230
xref: MIM:249700 "phenotype"
[Term]
id: DI-01877
name: Laron syndrome
def: "A severe form of growth hormone insensitivity characterized by growth impairment, short stature, dysfunctional growth hormone receptor, and failure to generate insulin-like growth factor I in response to growth hormone." []
synonym: "Growth hormone insensitivity syndrome" [UniProt]
synonym: "Growth hormone receptor deficiency" [UniProt]
synonym: "Laron dwarfism" [UniProt]
synonym: "Laron type pituitary dwarfism I" [UniProt]
synonym: "Pituitary dwarfism II" [UniProt]
xref: MedGen:C0271568
xref: MeSH:D046150
xref: MIM:262500 "phenotype"
[Term]
id: DI-01878
name: Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive
def: "An autosomal recessive form of growth hormone insensitivity syndrome, a congenital disease characterized by short stature, growth hormone deficiency in the presence of normal to elevated circulating concentrations of growth hormone, resistance to exogeneous growth hormone therapy, and recurrent infections. Most, but not all, patients have features of immune dysregulation." []
synonym: "Growth hormone insensitivity due to postreceptor defect" [UniProt]
synonym: "Laron syndrome due to a post-receptor defect" [UniProt]
synonym: "Laron syndrome type II" [UniProt]
synonym: "Laron type dwarfism II" [UniProt]
xref: MedGen:C1855548
xref: MeSH:D046150
xref: MIM:245590 "phenotype"
[Term]
id: DI-01879
name: Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous
def: "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB2C is an autosomal recessive, severe form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. JEB2C manifestations appear in early infancy and include hoarse cry, skin ulceration, nail dystrophy with recurrent loss of toenails and fingernails, and conjunctival scarring. Some patients have amelogenesis imperfecta. Death in childhood is common." []
synonym: "Laryngoonychocutaneous syndrome" [UniProt]
synonym: "LOCS" [UniProt]
synonym: "LOGIC syndrome" [UniProt]
xref: MedGen:C1328355
xref: MeSH:D016109
xref: MIM:245660 "phenotype"
[Term]
id: DI-01880
name: Late-onset retinal degeneration
def: "Autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy." []
xref: MedGen:C1854065
xref: MIM:605670 "phenotype"
[Term]
id: DI-01881
name: Lathosterolosis
def: "An autosomal recessive disorder characterized by multiple congenital anomalies affecting axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage." []
xref: MedGen:C1846421
xref: MeSH:D043202
xref: MIM:607330 "phenotype"
[Term]
id: DI-01882
name: Corneal dystrophy, lattice type 3A
def: "A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL3A is characterized by decreased visual acuity, and the presence of thick, ropy branching lattice lines and accumulations of amyloid deposits in the corneal stroma. Systemic amyloidosis is absent. CDL3A clinically resembles to lattice corneal dystrophy type 3, but differs in that its age of onset is 70 to 90 years. It has an autosomal dominant inheritance pattern." []
synonym: "Lattice corneal dystrophy type IIIA" [UniProt]
xref: MedGen:C1837974
xref: MeSH:D003317
xref: MeSH:D028226
xref: MIM:608471 "phenotype"
[Term]
id: DI-01883
name: Left-right axis malformations
def: "The defect includes left pulmonary isomerism, with cardiac anomalies characterized by complete atrioventricular canal defect and hypoplastic left ventricle, and interrupted inferior vena cava." []
xref: MedGen:C1866091
xref: MIM:601877 "gene+phenotype"
[Term]
id: DI-01884
name: Heterotaxy, visceral, 4, autosomal
def: "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX4 clinical features include dextrocardia, right aortic arch and a right-sided spleen, anomalies of the inferior and the superior vena cava, atrial ventricular canal defect with dextro- transposed great arteries, pulmonary stenosis, polysplenia and midline liver." []
synonym: "Left-right axis malformations" [UniProt]
xref: MedGen:C3151057
xref: MeSH:D059446
xref: MIM:613751 "phenotype"
[Term]
id: DI-01885
name: Legg-Calve-Perthes disease
def: "Characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone." []
synonym: "Legg-Perthes disease" [UniProt]
synonym: "Perthes disease" [UniProt]
xref: MedGen:C0023234
xref: MIM:150600 "phenotype"
[Term]
id: DI-01886
name: Leigh syndrome
def: "An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia." []
synonym: "Leigh Disease" [UniProt]
synonym: "Leigh syndrome due to mitochondrial complex I deficiency" [UniProt]
synonym: "Leigh syndrome due to mitochondrial complex II deficiency" [UniProt]
synonym: "Leigh syndrome due to mitochondrial complex III deficiency" [UniProt]
synonym: "Leigh syndrome due to mitochondrial complex IV deficiency" [UniProt]
synonym: "Leigh syndrome due to mitochondrial complex V deficiency" [UniProt]
synonym: "Necrotizing encephalopathy infantile subacute of Leigh" [UniProt]
synonym: "SNE" [UniProt]
xref: MedGen:C0023264
xref: MedGen:C1838951
xref: MedGen:C1850597
xref: MedGen:C1850598
xref: MedGen:C1850600
xref: MedGen:C2931891
xref: MeSH:D007888
xref: MIM:256000 "phenotype"
[Term]
id: DI-01887
name: Mitochondrial complex IV deficiency, nuclear type 5
def: "An autosomal recessive, severe mitochondrial disease with multisystemic manifestations and early onset. Clinical features include delayed psychomotor development, impaired intellectual development with speech delay, mild dysmorphic facial features, hypotonia, ataxia, and seizures. Brain imaging shows bilaterally symmetrical necrotic lesions in subcortical brain regions. Mortality is high, due to episodes of severe metabolic acidosis and coma." []
synonym: "COX deficiency, French Canadian type" [UniProt]
synonym: "COX deficiency, Saguenay-Lac-Saint-Jean type" [UniProt]
synonym: "Cytochrome c oxidase deficiency, French Canadian type" [UniProt]
synonym: "Leigh syndrome, French-Canadian type" [UniProt]
synonym: "Leigh syndrome, Saguenay-Lac-Saint-Jean type" [UniProt]
synonym: "LSFC" [UniProt]
xref: MedGen:C1857355
xref: MeSH:D030401
xref: MIM:220111 "phenotype"
[Term]
id: DI-01888
name: LEOPARD syndrome 1
def: "A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness." []
xref: MedGen:C0175704
xref: MedGen:CN074218
xref: MeSH:D044542
xref: MIM:151100 "phenotype"
[Term]
id: DI-01889
name: LEOPARD syndrome 2
def: "A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness." []
xref: MedGen:C1969056
xref: MeSH:D044542
xref: MIM:611554 "phenotype"
[Term]
id: DI-01890
name: Leprechaunism
def: "Represents the most severe form of insulin resistance syndrome, characterized by intrauterine and postnatal growth retardation and death in early infancy. Inheritance is autosomal recessive." []
synonym: "Donohue syndrome" [UniProt]
xref: MedGen:C0265344
xref: MedGen:C0271689
xref: MIM:246200 "phenotype"
[Term]
id: DI-01891
name: Leri-Weill dyschondrosteosis
def: "Dominantly inherited skeletal dysplasia characterized by moderate short stature predominantly because of short mesomelic limb segments. It is often associated with the Madelung deformity of the wrist, comprising bowing of the radius and dorsal dislocation of the distal ulna." []
xref: MedGen:C0152441
xref: MedGen:C0265309
xref: MedGen:CN031459
xref: MIM:127300 "phenotype"
[Term]
id: DI-01892
name: Lesch-Nyhan syndrome
def: "Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, intellectual disability, and compulsive self-mutilation." []
xref: MedGen:C0023374
xref: MedGen:C1845892
xref: MedGen:C1845893
xref: MIM:300322 "phenotype"
[Term]
id: DI-01893
name: Lethal congenital contracture syndrome 3
def: "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non- progressive joint contractures (arthrogryposis). The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS3 patients present at birth with severe multiple joint contractures and severe muscle wasting and atrophy, mainly in the legs. Death occurs minutes to hours after birth due to respiratory insufficiency. The phenotype can be distinguished from that of LCCS1 by the absence of hydrops, fractures and multiple pterygia, and from LCCS2 by the absence of neurogenic bladder defect." []
synonym: "Multiple contractural syndrome Israeli Bedouin type B" [UniProt]
xref: MedGen:C1969655
xref: MeSH:D001176
xref: MIM:611369 "phenotype"
[Term]
id: DI-01894
name: Restrictive dermopathy 1
def: "An autosomal recessive form of restrictive dermopathy, a genodermatosis mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial dysmorphism, sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life." []
synonym: "Fetal hypokinesia sequence due to restrictive dermopathy" [UniProt]
synonym: "Hyperkeratosis-contracture syndrome" [UniProt]
synonym: "Lethal tight skin contracture syndrome" [UniProt]
synonym: "Restrictive dermopathy 1, lethal" [UniProt]
synonym: "Tight skin contracture syndrome, lethal" [UniProt]
xref: MedGen:C0406585
xref: MeSH:D012868
xref: MIM:275210 "phenotype"
[Term]
id: DI-01895
name: Multiple pterygium syndrome, lethal type
def: "Multiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures causing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent." []
xref: MedGen:C1854678
xref: MIM:253290 "phenotype"
[Term]
id: DI-01896
name: Leucine-induced hypoglycemia
def: "Rare cause of hypoglycemia and is described as a condition in which symptomatic hypoglycemia is provoked by high protein feedings. Hypoglycemia is also elicited by administration of oral or intravenous infusions of a single amino acid, leucine." []
synonym: "Leucine-sensitive hypoglycemia of infancy" [UniProt]
xref: MedGen:C0271714
xref: MIM:240800 "phenotype"
[Term]
id: DI-01897
name: Leukocyte adhesion deficiency 1
def: "LAD1 patients have recurrent bacterial infections and their leukocytes are deficient in a wide range of adhesion-dependent functions." []
xref: MedGen:C0398738
xref: MedGen:C1861766
xref: MIM:116920 "phenotype"
[Term]
id: DI-01898
name: Leukocyte adhesion deficiency 3
def: "A disorder characterized by recurrent bacterial infections without pus formation, leukocytosis and major bleeding disorders." []
synonym: "IADD" [UniProt]
synonym: "Integrin activation deficiency disease" [UniProt]
synonym: "LAD1V" [UniProt]
synonym: "Leukocyte adhesion deficiency 1 variant" [UniProt]
xref: MedGen:C2748536
xref: MIM:612840 "phenotype"
[Term]
id: DI-01899
name: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
def: "Autosomal recessive disease and is defined on the basis of a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy. Affected individuals develop slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline." []
xref: MedGen:C1970180
xref: MIM:611105 "phenotype"
[Term]
id: DI-01901
name: Dementia, Lewy body
def: "A neurodegenerative disorder characterized by mental impairment leading to dementia, parkinsonism, fluctuating cognitive function, visual hallucinations, falls, syncopal episodes, and sensitivity to neuroleptic medication. Brainstem or cortical intraneuronal accumulations of aggregated proteins (Lewy bodies) are the only essential pathologic features. Patients may also have hippocampal and neocortical senile plaques, sometimes in sufficient number to fulfill the diagnostic criteria for Alzheimer disease." []
synonym: "Cortical Lewy body disease" [UniProt]
synonym: "Diffuse Lewy body disease" [UniProt]
synonym: "Diffuse Lewy body disease with gaze palsy" [UniProt]
synonym: "Dysphasic dementia hereditary" [UniProt]
synonym: "Lewy body dementia" [UniProt]
synonym: "Lewy body type senile dementia" [UniProt]
synonym: "Lewy body variant of Alzheimer disease" [UniProt]
xref: MedGen:C0752347
xref: MedGen:C1851957
xref: MedGen:C1851958
xref: MeSH:D020961
xref: MIM:127750 "phenotype"
[Term]
id: DI-01902
name: Luteinizing hormone resistance
def: "An autosomal recessive disorder characterized by unresponsiveness to luteinizing hormone, defective sexual development in males, and defective follicular development and ovulation, amenorrhea and infertility in females. Two forms of the disorder have been defined in males. Type 1 is a severe form characterized by complete 46,XY male pseudohermaphroditism, low testosterone and high luteinizing hormone levels, total lack of responsiveness to luteinizing and chorionic gonadotropin hormones, lack of breast development, and absent development of secondary male sex characteristics. Type 2, a milder form, displays a broader range of phenotypic expression ranging from micropenis to severe hypospadias." []
synonym: "Female luteinizing hormone resistance" [UniProt]
synonym: "Hypergonadotropic hypogonadism male due to LHCGR defect" [UniProt]
synonym: "Leydig cell agenesis" [UniProt]
synonym: "Leydig cell hypoplasia" [UniProt]
synonym: "Leydig cell hypoplasia complete" [UniProt]
synonym: "Leydig cell hypoplasia partial" [UniProt]
synonym: "Leydig cell hypoplasia type I" [UniProt]
synonym: "Leydig cell hypoplasia type II" [UniProt]
synonym: "Leydig cell hypoplasia with male pseudohermaphroditism" [UniProt]
synonym: "Ovarian luteinizing hormone resistance" [UniProt]
synonym: "Testicular luteinizing hormone resistance" [UniProt]
xref: MedGen:C0266432
xref: MedGen:C2673495
xref: MedGen:C2673497
xref: MedGen:C2673498
xref: MeSH:D007006
xref: MIM:238320 "phenotype"
[Term]
id: DI-01903
name: Lhermitte-Duclos disease
def: "A rare disease characterized by the occurrence of a slowly enlarging mass within the cerebellar cortex corresponding histologically to a cerebellar hamartoma. It manifests, most commonly in the third and fourth decades of life, with increased intracranial pressure, headache, nausea, cerebellar dysfunction, occlusive hydrocephalus, ataxia, visual disturbances and other cranial nerve palsies. Various associated abnormalities may be present such as megalencephaly, microgyria, hydromyelia, polydactyly, partial gigantism, macroglossia. LDD is part of the PTEN hamartoma tumor syndromes spectrum that also includes Cowden syndrome." []
synonym: "Cerebellar granule cell hypertrophy and megalencephaly" [UniProt]
synonym: "Cerebelloparenchymal disorder VI" [UniProt]
synonym: "CPD6" [UniProt]
synonym: "Dysplastic gangliocytoma of the cerebellum" [UniProt]
synonym: "PHTS" [UniProt]
synonym: "PTEN hamartoma tumor syndrome" [UniProt]
xref: MedGen:C0391826
xref: MedGen:C1834711
xref: MedGen:C1834712
xref: MeSH:D006223
xref: MIM:158350 "phenotype"
[Term]
id: DI-01904
name: Li-Fraumeni syndrome
def: "An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers." []
synonym: "LFL" [UniProt]
synonym: "Sarcoma family syndrome of Li and Fraumeni" [UniProt]
synonym: "SBLA syndrome Li-Fraumeni-like syndrome" [UniProt]
xref: MedGen:C0085390
xref: MedGen:C1835398
xref: MedGen:C2675080
xref: MeSH:D016864
xref: MIM:151623 "phenotype"
[Term]
id: DI-01905
name: Liddle syndrome 1
def: "A form of Liddle syndrome, an autosomal dominant disorder characterized by early onset of hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion." []
synonym: "Liddle syndrome" [UniProt]
synonym: "LIDLS" [UniProt]
synonym: "Pseudoaldosteronism" [UniProt]
synonym: "Pseudohyperaldosteronism" [UniProt]
xref: MedGen:C0221043
xref: MeSH:D056929
xref: MIM:177200 "phenotype"
[Term]
id: DI-01906
name: LIG4 syndrome
def: "Characterized by immunodeficiency and developmental and growth delay. Patients display unusual facial features, microcephaly, growth and/or developmental delay, pancytopenia, and various skin abnormalities." []
xref: MedGen:C1847827
xref: MIM:606593 "phenotype"
[Term]
id: DI-01907
name: Limb-mammary syndrome
def: "Characterized by ectrodactyly, cleft palate and mammary-gland abnormalities." []
xref: MedGen:C1863753
xref: MIM:603543 "phenotype"
[Term]
id: DI-01908
name: Limb pelvis hypoplasia aplasia syndrome
def: "A syndrome of severe deficiency of the extremities due to hypo- or aplasia of one or more long bones of one or more limbs. Pelvic manifestations include hip dislocation, hypoplastic iliac bone and aplastic pubic bones. Thoracic deformity, unusual facies and genitourinary anomalies can be present." []
synonym: "AARRS" [UniProt]
synonym: "Absence of ulna and fibula with severe limb deficiency" [UniProt]
synonym: "Al-Awadi/Raas-Rothschild syndrome" [UniProt]
synonym: "Limb/pelvis-hypoplasia/aplasia syndrome" [UniProt]
synonym: "Limb/pelvis/uterus-hypoplasia/aplasia syndrome" [UniProt]
synonym: "Schinzel phocomelia syndrome" [UniProt]
xref: MedGen:C1848651
xref: MeSH:D004480
xref: MIM:276820 "phenotype"
[Term]
id: DI-01909
name: Lipoid proteinosis
def: "Rare autosomal recessive disorder characterized by generalized thickening of skin, mucosae and certain viscera. Classical features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. Histologically, there is widespread deposition of hyaline material and disruption/reduplication of basement membrane." []
synonym: "Hyalinosis cutis et mucosae" [UniProt]
synonym: "Lipoid proteinosis of Urbach and Wiethe" [UniProt]
xref: MedGen:C0023795
xref: MIM:247100 "phenotype"
[Term]
id: DI-01910
name: Lipoprotein glomerulopathy
def: "Uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries." []
xref: MedGen:C2673196
xref: MIM:611771 "phenotype"
[Term]
id: DI-01911
name: Hyperlipoproteinemia 1
def: "An autosomal recessive metabolic disorder characterized by defective breakdown of dietary fats, impaired clearance of chylomicrons from plasma causing the plasma to have a milky appearance, and severe hypertriglyceridemia. On a normal diet, patients often present with abdominal pain, hepatosplenomegaly, lipemia retinalis, eruptive xanthomata, and massive hypertriglyceridemia, sometimes complicated with acute pancreatitis." []
synonym: "Chylomicronemia, familial" [UniProt]
synonym: "Hyperchylomicronemia, familial" [UniProt]
synonym: "Hyperlipemia, essential familial" [UniProt]
synonym: "Hyperlipemia, idiopathic, Burger-Grutz type" [UniProt]
synonym: "Hyperlipoproteinemia, type IA" [UniProt]
synonym: "Lipase D deficiency" [UniProt]
synonym: "LIPD deficiency" [UniProt]
synonym: "Lipoprotein lipase deficiency" [UniProt]
synonym: "LPL deficiency" [UniProt]
xref: MedGen:C0023817
xref: MedGen:C1706413
xref: MeSH:D006951
xref: MIM:238600 "phenotype"
[Term]
id: DI-01912
name: Hypotrichosis 6
def: "A condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed. HYPT6 inheritance is autosomal recessive." []
synonym: "HTL" [UniProt]
synonym: "Hypotrichosis localized autosomal recessive" [UniProt]
synonym: "Hypotrichosis localized autosomal recessive 1" [UniProt]
synonym: "LAH" [UniProt]
synonym: "LAH1" [UniProt]
synonym: "Monilethrix-like hypotrichosis" [UniProt]
xref: MedGen:C1842839
xref: MedGen:C3149410
xref: MeSH:D007039
xref: MIM:607903 "phenotype"
[Term]
id: DI-01913
name: Hypotrichosis 8
def: "A condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed. HYPT8 inheritance is autosomal recessive." []
synonym: "Hypotrichosis localized autosomal recessive 3" [UniProt]
synonym: "LAH3" [UniProt]
xref: MedGen:C1848435
xref: MeSH:D007039
xref: MIM:278150 "phenotype"
[Term]
id: DI-01914
name: Long-chain 3-hydroxyl-CoA dehydrogenase deficiency
def: "The clinical features are very similar to TFP deficiency. Biochemically, LCHAD deficiency is characterized by reduced long-chain 3-hydroxyl-CoA dehydrogenase activity, while the other enzyme activities of the TFP complex are normal or only slightly reduced." []
xref: MedGen:CN074230
xref: MIM:609016 "phenotype"
[Term]
id: DI-01915
name: Loose anagen hair syndrome
def: "In LAHS, anagen hairs are easily pulled from the scalp. The hair is relatively sparse and does not grow long. Hair of fair color and hair shafts of reduced caliber, and an early age of onset are features. Usually the hairs are not fragile and there are no areas of breakage." []
xref: MedGen:C0406468
xref: MIM:600628 "phenotype"
[Term]
id: DI-01916
name: Lowe oculocerebrorenal syndrome
def: "X-linked multisystem disorder affecting eyes, nervous system, and kidney. It is characterized by hydrophthalmia, cataract, intellectual disability, vitamin D-resistant rickets, aminoaciduria, and reduced ammonia production by the kidney. Ocular abnormalities include cataract, glaucoma, microphthalmos, and decreased visual acuity. Developmental delay, hypotonia, behavior abnormalities, and areflexia are also present. Renal tubular involvement is characterized by impaired reabsorption of bicarbonate, amino acids, and phosphate. Musculoskeletal abnormalities such as joint hypermobility, dislocated hips, and fractures may develop as consequences of renal tubular acidosis and hypophosphatemia. Cataract is the only significant manifestation in carriers and is detected by slit-lamp examination." []
synonym: "Lowe syndrome" [UniProt]
xref: MedGen:C0028860
xref: MedGen:C2713392
xref: MIM:309000 "phenotype"
[Term]
id: DI-01917
name: Intellectual developmental disorder, X-linked, syndromic, Lujan-Fryns type
def: "A disorder characterized by tall stature with asthenic habitus, macrocephaly, a tall narrow face, maxillary hypoplasia, a high narrow palate with dental crowding, a small or receding chin, long hands with hyperextensible digits, hypernasal speech, hypotonia, mild-to-moderate intellectual disability, behavioral aberrations and dysgenesis of the corpus callosum." []
synonym: "Lujan-Fryns syndrome" [UniProt]
xref: MedGen:C0796022
xref: MeSH:D038901
xref: MIM:309520 "phenotype"
[Term]
id: DI-01919
name: Lymphangioleiomyomatosis
def: "Progressive and often fatal lung disease characterized by a diffuse proliferation of abnormal smooth muscle cells in the lungs. It affects almost exclusively young women and can occur as an isolated disorder or in association with tuberous sclerosis complex." []
xref: MedGen:C0751674
xref: MIM:606690 "phenotype"
[Term]
id: DI-01920
name: Lysinuric protein intolerance
def: "A metabolic disorder characterized by increased renal excretion of cationic amino acid (CAA), reduced CAA absorption from intestine, and orotic aciduria. On a normal diet, LPI patients present poor feeding, vomiting, diarrhea, episodes of hyperammoniaemic coma and growth retardation. Hepatosplenomegaly, osteoporosis and a life-threatening pulmonary involvement (alveolar proteinosis) are also seen. Biochemically LPI is characterized by defective transport of dibasic amino acids at the basolateral membrane of epithelial cells in kidney and intestine." []
synonym: "Dibasic amino aciduria II" [UniProt]
xref: MedGen:C0268647
xref: MeSH:D000592
xref: MIM:222700 "phenotype"
[Term]
id: DI-01921
name: Mannosidosis, alpha B, lysosomal
def: "A lysosomal storage disease characterized by accumulation of unbranched oligosaccharide chains. This accumulation is expressed histologically as cytoplasmic vacuolation predominantly in the CNS and parenchymatous organs. Depending on the clinical findings at the age of onset, a severe infantile (type I) and a mild juvenile (type II) form of alpha-mannosidosis are recognized. There is considerable variation in the clinical expression with intellectual disability, recurrent infections, impaired hearing and Hurler-like skeletal changes being the most consistent abnormalities." []
synonym: "Alpha-mannosidase B deficiency" [UniProt]
synonym: "Alpha-mannosidosis" [UniProt]
synonym: "Alpha-mannosidosis types I and II" [UniProt]
synonym: "Lysosomal alpha-D-mannosidase deficiency" [UniProt]
xref: MedGen:C0024748
xref: MedGen:C1855396
xref: MeSH:D008363
xref: MIM:248500 "phenotype"
[Term]
id: DI-01922
name: Mannosidosis, beta A, lysosomal
def: "An autosomal recessive lysosomal storage disease of glycoprotein catabolism. Clinical features are heterogeneous with a wide range of symptoms and age of onset. The disease is associated with a range of neurological involvement, including various degrees of intellectual disability in most of the cases, hearing loss and speech impairment, hypotonia, epilepsy and peripheral neuropathy. Affected individuals have a profound reduction in beta A mannosidase activity in plasma, fibroblasts and leukocytes." []
synonym: "Beta-mannosidase deficiency" [UniProt]
synonym: "Beta-mannosidosis" [UniProt]
synonym: "Lysosomal beta-mannosidase deficiency" [UniProt]
xref: MedGen:C0342849
xref: MedGen:C2931893
xref: MeSH:D044905
xref: MIM:248510 "phenotype"
[Term]
id: DI-01923
name: BCARD syndrome
def: "An autosomal recessive connective tissue disorder, secondary to lysyl hydroxylase 3 deficiency. It is characterized by congenital malformations severely affecting multiple tissues and organs. Clinical features include growth retardation, craniofacial dysmorphism, popliteal and cerebral aneurysm, cerebral arterial hemorrhage, skin blistering and easy bruisability, and osteopenia." []
synonym: "Bone abnormalities, cataract, arterial rupture, and deafness" [UniProt]
synonym: "Bone fragility with contractures, arterial rupture, and deafness" [UniProt]
synonym: "LH3 deficiency" [UniProt]
synonym: "Lysyl hydroxylase 3 deficiency" [UniProt]
xref: MedGen:C2676285
xref: MeSH:D000015
xref: MeSH:D003240
xref: MIM:612394 "phenotype"
[Term]
id: DI-01924
name: Macrocephaly/autism syndrome
def: "Patients have autism spectrum disorders and macrocephaly, with head circumferences ranging from +2.5 to +8 SD for age and sex (average head circumference +4.0 SD)." []
xref: MedGen:C1854416
xref: MIM:605309 "phenotype"
[Term]
id: DI-01925
name: Macular dystrophy, corneal
def: "An ocular disease characterized by bilateral, progressive corneal opacification, and reduced corneal sensitivity. Onset occurs in the first decade, usually between ages 5 and 9. Painful attacks with photophobia, foreign body sensations, and recurrent erosions occur in most patients. The disease is due to deposition of an unsulfated keratan sulfate both within the intracellular space (within the keratocytes and endothelial cells) and in the extracellular corneal stroma. Macular corneal dystrophy is divided into the clinically indistinguishable types I, IA, and II based on analysis of the normally sulfated, or antigenic, keratan sulfate levels in serum and immunohistochemical evaluation of the cornea. Patients with types I and IA macular corneal dystrophy have undetectable serum levels of antigenic keratan sulfate, whereas those with type II macular corneal dystrophy have normal or low levels, depending on the population examined." []
synonym: "Corneal dystrophy macular type" [UniProt]
synonym: "Groenouw type II corneal dystrophy" [UniProt]
synonym: "Macular corneal dystrophy type I" [UniProt]
synonym: "Macular corneal dystrophy type II" [UniProt]
synonym: "MCDC1" [UniProt]
xref: MedGen:C1636149
xref: MedGen:C1691013
xref: MeSH:D003317
xref: MIM:217800 "phenotype"
[Term]
id: DI-01926
name: Majeed syndrome
def: "An autosomal recessive syndrome characterized by chronic recurrent multifocal osteomyelitis that is of early onset with a lifelong course, congenital dyserythropoietic anemia that presents as hypochromic, microcytic anemia during the first year of life and ranges from mild to transfusion-dependent, and transient inflammatory dermatosis, often manifesting as Sweet syndrome (neutrophilic skin infiltration)." []
synonym: "Chronic recurrent multifocal osteomyelitis 1, with congenital dyserythropoietic anemia, with or without neutrophilic dermatosis;" [UniProt]
synonym: "Chronic recurrent multifocal osteomyelitis, with congenital dyserythropoietic anemia and neutrophilic dermatosis" [UniProt]
synonym: "CRMO1" [UniProt]
xref: MedGen:C1864997
xref: MeSH:D000742
xref: MIM:609628 "phenotype"
[Term]
id: DI-01927
name: Spermatogenic failure 5
def: "An infertility disorder caused by spermatogenesis defects. Semen from affected men show close to 100% morphologically abnormal multiflagellar spermatozoa with low motility, oversized irregular heads, and abnormal midpiece and acrosome." []
synonym: "Infertility associated with multi-tailed spermatozoa and excessive DNA" [UniProt]
synonym: "Male infertility with large-headed multiflagellar polyploid spermatozoa" [UniProt]
xref: MedGen:C0403812
xref: MeSH:D007248
xref: MIM:243060 "phenotype"
[Term]
id: DI-01928
name: Male pseudohermaphrodism with gynecomastia
def: "An autosomal recessive disorder that manifests, in males, as undermasculinization characterized by hypoplastic-to-normal internal genitalia (epididymis, vas deferens, seminal vesicles, and ejaculatory ducts) but female external genitalia and the absence of a prostate. This phenotype is caused by inadequate testicular synthesis of testosterone, which, in turn, results in insufficient formation of dihydrotestosterone in the anlage of the external genitalia and prostate during fetal development. At the expected time of puberty, there is a marked increase in plasma leuteinizing hormone and, consequently, in testicular secretion of androstenedione. Hence, a diagnostic hallmark of this disorder is a decreased plasma testosterone-to-androstenedione ratio. Significant amounts of the circulating androstenedione are, however, converted to testosterone, in peripheral tissues, thereby causing virilization." []
synonym: "17-beta hydroxysteroid dehydrogenase III deficiency" [UniProt]
synonym: "17-ketosteroid reductase deficiency of testis" [UniProt]
synonym: "17-KSR deficiency" [UniProt]
synonym: "Neutral 17-beta-hydroxysteroid oxidoreductase deficiency" [UniProt]
synonym: "Pseudohermaphroditism, male, with gynecomastia" [UniProt]
xref: MedGen:C0268296
xref: MedGen:C1849695
xref: MeSH:D058490
xref: MIM:264300 "phenotype"
[Term]
id: DI-01929
name: Malignant hyperthermia 1
def: "Autosomal dominant pharmacogenetic disorder of skeletal muscle and is one of the main causes of death due to anesthesia. In susceptible people, an MH episode can be triggered by all commonly used inhalational anesthetics such as halothane and by depolarizing muscle relaxants such as succinylcholine. The clinical features of the myopathy are hyperthermia, accelerated muscle metabolism, contractures, metabolic acidosis, tachycardia and death, if not treated with the postsynaptic muscle relaxant, dantrolene. Susceptibility to MH can be determined with the 'in vitro' contracture test (IVCT): observing the magnitude of contractures induced in strips of muscle tissue by caffeine alone and halothane alone. Patients with normal response are MH normal (MHN), those with abnormal response to caffeine alone or halothane alone are MH equivocal (MHE(C) and MHE(H) respectively)." []
synonym: "Hyperpyrexia, malignant" [UniProt]
synonym: "Hyperthermia of anesthesia" [UniProt]
synonym: "MH" [UniProt]
xref: MedGen:C0024591
xref: MedGen:C1840365
xref: MeSH:D008305
xref: MIM:145600 "phenotype"
[Term]
id: DI-01930
name: Malignant hyperthermia 5
def: "Autosomal dominant disorder that is potentially lethal in susceptible individuals on exposure to commonly used inhalational anesthetics and depolarizing muscle relaxants." []
xref: MedGen:C1866077
xref: MedGen:C2930984
xref: MIM:601887 "phenotype"
[Term]
id: DI-01931
name: Malonyl-CoA decarboxylase deficiency
def: "Autosomal recessive disease characterized by abdominal pain, chronic constipation, episodic vomiting, metabolic acidosis and malonic aciduria." []
xref: MedGen:C0342793
xref: MIM:248360 "phenotype"
[Term]
id: DI-01932
name: Mandibuloacral dysplasia with type A lipodystrophy
def: "A form of mandibuloacral dysplasia, a rare progeroid disorder with clinical and genetic heterogeneity, characterized by growth retardation, craniofacial dysmorphic features due to distal bone resorption, musculoskeletal and skin abnormalities associated with lipodystrophy. MADA is an autosomal recessive disease characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, progeroid appearance, partial alopecia, soft tissue calcinosis, joint contractures, and partial lipodystrophy with loss of subcutaneous fat from the extremities. Adipose tissue in the face, neck and trunk is normal or increased." []
synonym: "Craniomandibular dermatodysostosis" [UniProt]
synonym: "Lipodystrophy type A associated with mandibuloacral dysplasia" [UniProt]
synonym: "Mandibuloacral dysplasia with type A lipodystrophy atypical" [UniProt]
synonym: "Tendinous calcinosis arthropathy and progeroid features" [UniProt]
xref: MedGen:C0432291
xref: MedGen:C2673440
xref: MeSH:D008060
xref: MeSH:D019588
xref: MeSH:D030981
xref: MIM:248370 "phenotype"
[Term]
id: DI-01933
name: Mandibuloacral dysplasia with type B lipodystrophy
def: "A form of mandibuloacral dysplasia, a rare progeroid disorder with clinical and genetic heterogeneity, characterized by growth retardation, craniofacial dysmorphic features due to distal bone resorption, musculoskeletal and skin abnormalities associated with lipodystrophy. MADB is a disease characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, joint contractures, and generalized lipodystrophy with loss of subcutaneous fat from the extremities, face, neck and trunk." []
synonym: "Lipodystrophy type B associated with mandibuloacral dysplasia" [UniProt]
xref: MedGen:C1837756
xref: MeSH:D008060
xref: MeSH:D019588
xref: MeSH:D030981
xref: MIM:608612 "phenotype"
[Term]
id: DI-01935
name: Maple syrup urine disease 2
def: "A form of maple syrup urine disease, an autosomal recessive metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched- chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated." []
synonym: "Maple syrup urine disease type II" [UniProt]
synonym: "MSUD type II" [UniProt]
xref: MedGen:C1855371
xref: MedGen:CN069615
xref: MeSH:D008375
xref: MIM:620699 "phenotype"
[Term]
id: DI-01936
name: Maple syrup urine disease 1A
def: "A form of maple syrup urine disease, an autosomal recessive metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched- chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated." []
synonym: "BCKD deficiency" [UniProt]
synonym: "Branched-chain alpha-keto acid dehydrogenase deficiency" [UniProt]
synonym: "Branched-chain ketoaciduria" [UniProt]
synonym: "Classic maple syrup urine disease" [UniProt]
synonym: "Intermediate maple syrup urine disease" [UniProt]
synonym: "Intermittent maple syrup urine disease" [UniProt]
synonym: "Keto acid decarboxylase deficiency" [UniProt]
synonym: "Maple syrup urine disease type IA" [UniProt]
synonym: "MSUD type IA" [UniProt]
synonym: "Thiamine-responsive maple syrup urine disease" [UniProt]
xref: MedGen:C1855369
xref: MedGen:CN068546
xref: MeSH:D008375
xref: MIM:248600 "phenotype"
[Term]
id: DI-01937
name: Maple syrup urine disease 1B
def: "A form of maple syrup urine disease, an autosomal recessive metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched- chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated." []
synonym: "Maple syrup urine disease type IB" [UniProt]
synonym: "MSUD type IB" [UniProt]
xref: MedGen:C1855370
xref: MeSH:D008375
xref: MIM:620698 "phenotype"
[Term]
id: DI-01938
name: Marinesco-Sjoegren syndrome
def: "Autosomal recessive multisystem disorder which is characterized by cerebellar ataxia due to cerebellar atrophy, with Purkinje and granule cell loss and myopathy featuring marked muscle replacement with fat and connective tissue. Other cardinal features include bilateral cataracts, hypergonadotrophic hypogonadism and mild to severe intellectual disability. Skeletal abnormalities, short stature, dysarthria, strabismus and nystagmus are also frequent findings. Mutational inactivation of this protein may result in ER stress- induced cell death signaling or malfunctioning chaperone machineries that mishandle client proteins which are critical for the organs targeted in MSS." []
xref: MedGen:C0024814
xref: MIM:248800 "phenotype"
[Term]
id: DI-01939
name: Marshall syndrome
def: "An autosomal dominant disorder characterized by ocular abnormalities, deafness, craniofacial anomalies, and anhidrotic ectodermal dysplasia. Clinical features include short stature; flat or retruded midface with short, depressed nose, flat nasal bridge and anteverted nares; cleft palate with or without the Pierre Robin sequence; appearance of large eyes with ocular hypertelorism; cataracts, either congenital or juvenile; esotropia; high myopia; sensorineural hearing loss; spondyloepiphyseal abnormalities; calcification of the falx cerebri; ectodermal abnormalities, including defects in sweating and dental structures." []
xref: MedGen:C0265235
xref: MeSH:D002386
xref: MeSH:D004476
xref: MeSH:D006319
xref: MeSH:D009216
xref: MeSH:D019465
xref: MIM:154780 "phenotype"
[Term]
id: DI-01940
name: Martsolf syndrome 1
def: "An autosomal recessive disease characterized by congenital cataracts, intellectual disability, and hypogonadism." []
synonym: "MARTS" [UniProt]
synonym: "Martsolf syndrome" [UniProt]
xref: MedGen:C0796037
xref: MeSH:D002386
xref: MeSH:D007006
xref: MeSH:D008607
xref: MIM:212720 "phenotype"
[Term]
id: DI-01941
name: Overlap connective tissue disease
def: "Heritable disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin. MASS syndrome is closely resembling both the Marfan syndrome and the Barlow syndrome. However, no dislocation of the lenses or aneurysmal changes occur in the aorta, and the mitral valve prolapse is by no means invariable." []
synonym: "MASS syndrome" [UniProt]
xref: MedGen:C1858556
xref: MIM:604308 "phenotype"
[Term]
id: DI-01942
name: Maternal acute fatty liver of pregnancy
def: "Severe maternal illness occurring during pregnancies with affected fetuses. This disease is associated with LCHAD deficiency and characterized by sudden unexplained infant death or hypoglycemia and abnormal liver enzymes (Reye-like syndrome)." []
xref: MIM:609016 "phenotype"
[Term]
id: DI-01943
name: Maturity-onset diabetes of the young 1
def: "A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease." []
synonym: "Mild juvenile diabetes mellitus" [UniProt]
synonym: "MODY type 1" [UniProt]
synonym: "MODY-1" [UniProt]
xref: MedGen:C1852093
xref: MeSH:D003924
xref: MIM:125850 "phenotype"
[Term]
id: DI-01944
name: Maturity-onset diabetes of the young 2
def: "A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease." []
synonym: "MODY glucokinase-related" [UniProt]
synonym: "MODY type 2" [UniProt]
synonym: "MODY-2" [UniProt]
xref: MedGen:C0085207
xref: MedGen:C1841962
xref: MeSH:D003924
xref: MIM:125851 "phenotype"
[Term]
id: DI-01945
name: Maturity-onset diabetes of the young 3
def: "A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease." []
synonym: "MODY type 3" [UniProt]
synonym: "MODY-3" [UniProt]
xref: MedGen:C1838100
xref: MeSH:D003924
xref: MIM:600496 "phenotype"
[Term]
id: DI-01946
name: Maturity-onset diabetes of the young 4
def: "A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease." []
synonym: "MODY type 4" [UniProt]
synonym: "MODY-4" [UniProt]
xref: MedGen:C1833382
xref: MeSH:D003924
xref: MIM:606392 "phenotype"
[Term]
id: DI-01947
name: Maturity-onset diabetes of the young 6
def: "A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease." []
synonym: "MODY type 6" [UniProt]
synonym: "MODY-6" [UniProt]
xref: MedGen:C1853371
xref: MeSH:D003924
xref: MIM:606394 "phenotype"
[Term]
id: DI-01948
name: Maturity-onset diabetes of the young 7
def: "A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease." []
synonym: "MODY type 7" [UniProt]
synonym: "MODY-7" [UniProt]
xref: MedGen:C1864839
xref: MeSH:D003924
xref: MIM:610508 "phenotype"
[Term]
id: DI-01949
name: Maturity-onset diabetes of the young 8 with exocrine dysfunction
def: "An autosomal dominant form of diabetes characterized by a primary defect in insulin secretion, exocrine pancreatic dysfunction, altered pancreatic morphology, recurrent abdominal pain, and fecal elastase deficiency. Disease onset is at less than 25 years of age." []
synonym: "Diabetes and pancreatic exocrine dysfunction syndrome" [UniProt]
synonym: "DPED" [UniProt]
synonym: "MODY type 8" [UniProt]
synonym: "MODY-8" [UniProt]
xref: MedGen:C1853297
xref: MeSH:D003924
xref: MIM:609812 "phenotype"
[Term]
id: DI-01950
name: Maturity-onset diabetes of the young 9
def: "A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease." []
synonym: "MODY type 9" [UniProt]
synonym: "MODY-9" [UniProt]
xref: MedGen:C2677132
xref: MeSH:D003924
xref: MIM:612225 "phenotype"
[Term]
id: DI-01951
name: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
def: "An autosomal dominant disorder characterized by thrombocytopenia, giant platelets and Dohle body-like inclusions in peripheral blood leukocytes with variable ultrastructural appearance. Some affected individuals lack leukocyte inclusion bodies on classic staining of peripheral blood smears. Alport syndrome-like features of nephritis, hearing loss, and eye abnormalities are present in some patients." []
synonym: "Alport syndrome, with macrothrombocytopenia" [UniProt]
synonym: "BDPLT6" [UniProt]
synonym: "Bleeding disorder platelet-type 6" [UniProt]
synonym: "Dohle leukocyte inclusions with giant platelets" [UniProt]
synonym: "Epstein syndrome" [UniProt]
synonym: "EPSTNS" [UniProt]
synonym: "Fechtner syndrome" [UniProt]
synonym: "FTNS" [UniProt]
synonym: "Giant platelet syndrome with thrombocytopenia" [UniProt]
synonym: "Macrothrombocytopathy, nephritis, and deafness" [UniProt]
synonym: "Macrothrombocytopathy-nephritis-deafness" [UniProt]
synonym: "Macrothrombocytopenia and progressive sensorineural deafness" [UniProt]
synonym: "Macrothrombocytopenia with leukocyte inclusions" [UniProt]
synonym: "May-Hegglin anomaly" [UniProt]
synonym: "MHA" [UniProt]
synonym: "MPSD" [UniProt]
synonym: "SBS" [UniProt]
synonym: "Sebastian platelet syndrome" [UniProt]
synonym: "Sebastian syndrome" [UniProt]
xref: MedGen:C0340978
xref: MeSH:D013921
xref: MIM:155100 "phenotype"
[Term]
id: DI-01952
name: McCune-Albright syndrome
def: "Characterized by polyostotic fibrous dysplasia, cafe-au-lait lesions, and a variety of endocrine disorders, including precocious puberty, hyperthyroidism, hypercortisolism, growth hormone excess, and hyperprolactinemia. The mutations producing MAS lead to constitutive activation of GS alpha." []
xref: MedGen:C0016065
xref: MedGen:C0242292
xref: MIM:174800 "phenotype"
[Term]
id: DI-01953
name: McKusick-Kaufman syndrome
def: "Autosomal recessive developmental disorder. It is characterized by hydrometrocolpos, postaxial polydactyly and congenital heart defects." []
xref: MedGen:C0948368
xref: MIM:236700 "phenotype"
[Term]
id: DI-01954
name: McLeod syndrome
def: "A multisystem disorder characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy." []
synonym: "McLeod phenotype" [UniProt]
synonym: "McLeod syndrome with chronic granulomatous disease" [UniProt]
synonym: "Neuroacanthocytosis McLeod type" [UniProt]
xref: MedGen:C3151853
xref: MedGen:CN069344
xref: MeSH:D054546
xref: MIM:300842 "phenotype"
[Term]
id: DI-01955
name: Meacham syndrome
def: "Rare sporadically occurring multiple malformation syndrome characterized by male pseudohermaphroditism with abnormal internal female genitalia comprising a uterus and double or septate vagina, complex congenital heart defect and diaphragmatic abnormalities." []
xref: MedGen:C1837026
xref: MIM:608978 "phenotype"
[Term]
id: DI-01956
name: Acyl-CoA dehydrogenase medium-chain deficiency
def: "An inborn error of mitochondrial fatty acid beta-oxidation which causes fasting hypoglycemia, hepatic dysfunction and encephalopathy, often resulting in death in infancy." []
synonym: "ACADM deficiency" [UniProt]
synonym: "Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency" [UniProt]
synonym: "MCAD deficiency" [UniProt]
synonym: "MCADH deficiency" [UniProt]
xref: MedGen:C0220710
xref: MeSH:D008052
xref: MIM:201450 "phenotype"
[Term]
id: DI-01957
name: Medullary thyroid carcinoma
def: "Rare tumor derived from the C cells of the thyroid. Three hereditary forms are known, that are transmitted in an autosomal dominant fashion: (a) multiple neoplasia type 2A (MEN2A), (b) multiple neoplasia type IIB (MEN2B) and (c) familial MTC (FMTC), which occurs in 25-30% of MTC cases and where MTC is the only clinical manifestation." []
xref: MedGen:C1833921
xref: MIM:155240 "phenotype"
[Term]
id: DI-01958
name: Medulloblastoma
def: "Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children." []
xref: MedGen:C0025149
xref: MedGen:C0751291
xref: MedGen:C1334970
xref: MIM:155255 "phenotype"
[Term]
id: DI-01959
name: Corneal dystrophy, Meesmann 1
def: "A form of Meesmann corneal dystrophy, a corneal disease characterized by fragility of the anterior corneal epithelium. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris- laden intraepithelial cysts. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. MECD1 inheritance is autosomal dominant." []
synonym: "Corneal dystrophy, Meesmann epithelial" [UniProt]
synonym: "Juvenile epithelial corneal dystrophy of Meesmann" [UniProt]
synonym: "MCD" [UniProt]
synonym: "MECD" [UniProt]
synonym: "Meesmann corneal dystrophy" [UniProt]
synonym: "Meesmann epithelial corneal dystrophy" [UniProt]
xref: MedGen:C0339277
xref: MeSH:D053559
xref: MIM:122100 "phenotype"
[Term]
id: DI-01960
name: Megalencephalic leukoencephalopathy with subcortical cysts 1
def: "A syndrome of cerebral leukoencephalopathy and megalencephaly characterized by ataxia, spasticity, seizures, delay in motor development and mild intellectual disability. The brain appears swollen on magnetic resonance imaging, with diffuse white-matter abnormalities and the invariable presence of subcortical cysts in frontal and temporal lobes." []
synonym: "Leukoencephalopathy with swelling and cysts" [UniProt]
synonym: "LVM" [UniProt]
synonym: "Vacuolating megalencephalic leukoencephalopathy with subcortical cysts" [UniProt]
synonym: "Van der Knaap disease" [UniProt]
synonym: "VL" [UniProt]
xref: MedGen:C1858854
xref: MeSH:D056784
xref: MIM:604004 "phenotype"
[Term]
id: DI-01961
name: Melanoma-astrocytoma syndrome
def: "Characterized by a dual predisposition to melanoma and neural system tumors, commonly astrocytoma." []
xref: MedGen:C1835042
xref: MIM:155755 "phenotype"
[Term]
id: DI-01962
name: Melnick-Needles syndrome
def: "Severe congenital bone disorder characterized by typical facies (exophthalmos, full cheeks, micrognathia and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of bones of legs, irregular constrictions in the ribs, and sclerosis of base of skull." []
xref: MedGen:C0025237
xref: MIM:309350 "phenotype"
[Term]
id: DI-01963
name: Melorheostosis, isolated
def: "A sclerosing bone disorder characterized by hyperostosis of the cortex of tubular bones, frequently involving one limb. The lesions may be accompanied by abnormalities of adjacent soft tissue, joint contractures, sclerodermatous skin lesions, muscle atrophy, or hemangioma." []
xref: MedGen:C0025239
xref: MedGen:C3149631
xref: MeSH:D008557
xref: MIM:155950 "phenotype"
[Term]
id: DI-01964
name: Immunodeficiency 27A
def: "A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas." []
synonym: "Autosomal recessive IFNGR1 deficiency" [UniProt]
synonym: "Autosomal recessive immunodeficiency 27A, mycobacteriosis" [UniProt]
synonym: "Familial disseminated atypical mycobacterial infection" [UniProt]
xref: MedGen:C4011949
xref: MeSH:D007153
xref: MeSH:D009164
xref: MIM:209950 "phenotype"
[Term]
id: DI-01965
name: Intellectual developmental disorder, X-linked, syndromic, Christianson type
def: "A syndrome characterized by profound intellectual disability, epilepsy, ataxia, and microcephaly. It shows phenotypic overlap with Angelman syndrome." []
synonym: "MRXS-Christianson" [UniProt]
synonym: "X-linked Angelman-like syndrome" [UniProt]
xref: MedGen:C2678194
xref: MeSH:D038901
xref: MIM:300243 "phenotype"
[Term]
id: DI-01966
name: Intellectual developmental disorder, X-linked, syndromic, Siderius type
def: "A syndrome characterized by mild to borderline intellectual disability with or without cleft lip/cleft palate." []
synonym: "Siderius-Hamel syndrome" [UniProt]
xref: MedGen:C1846055
xref: MeSH:D038901
xref: MIM:300263 "phenotype"
[Term]
id: DI-01967
name: Intellectual developmental disorder, X-linked 93
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. XLID93 is associated with macrocephaly." []
synonym: "MRX93" [UniProt]
xref: MedGen:C1970841
xref: MeSH:D038901
xref: MIM:300659 "phenotype"
[Term]
id: DI-01968
name: Intellectual developmental disorder, X-linked, with isolated growth hormone deficiency
def: "A disorder characterized by the association of variable degrees of intellectual disability with panhypopituitarism, variable combinations of hypothyroidism, delayed pubertal development, and short stature due to growth hormone deficiency." []
synonym: "Intellectual developmental disorder, X-linked, with panhypopituitarism" [UniProt]
synonym: "MRGH" [UniProt]
xref: MedGen:C1848068
xref: MedGen:C2678223
xref: MeSH:D038901
xref: MIM:300123 "phenotype"
[Term]
id: DI-01969
name: Merosin-deficient congenital muscular dystrophy 1A
def: "Characterized by difficulty walking, hypotonia, proximal weakness, hyporeflexia, and white matter hypodensity on MRI." []
xref: MedGen:C1263858
xref: MedGen:C1842898
xref: MIM:607855 "phenotype"
[Term]
id: DI-01970
name: Homocystinuria-megaloblastic anemia, cblE complementation type
def: "An autosomal recessive inborn error of metabolism resulting from defects in the cobalamin-dependent pathway that converts homocysteine to methionine. It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia. Cells from patients with HMAE fail to incorporate methyltetrahydrofolate into methionine in whole cells, but cell extracts show normal methionine synthase activity in the presence of a reducing agent." []
synonym: "Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblE complementation type" [UniProt]
synonym: "Methylcobalamin deficiency cblE type" [UniProt]
synonym: "Vitamin B12-responsive homocystinuria cblE type" [UniProt]
xref: MedGen:C1856057
xref: MeSH:D008661
xref: MIM:236270 "phenotype"
[Term]
id: DI-01971
name: Homocystinuria-megaloblastic anemia, cblG complementation type
def: "An autosomal recessive inborn error of metabolism resulting from defects in the cobalamin-dependent pathway that converts homocysteine to methionine. It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia." []
synonym: "Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type" [UniProt]
synonym: "Methionine synthase deficiency" [UniProt]
synonym: "Methylcobalamin deficiency cblG type" [UniProt]
xref: MedGen:C1855128
xref: MeSH:D008661
xref: MIM:250940 "phenotype"
[Term]
id: DI-01972
name: Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity
def: "An autosomal recessive inborn error of folate metabolism. Clinical severity is variable, ranging from severe neurologic features to absence of symptoms. Clinical features include homocysteinuria, homocysteinemia, developmental delay, severe intellectual disability, perinatal death, psychiatric disturbances, and later-onset neurodegenerative disorders." []
synonym: "Homocystinuria due to MTHFR deficiency" [UniProt]
synonym: "Methylenetetrahydrofolate reductase deficiency" [UniProt]
synonym: "MTHFR deficiency" [UniProt]
xref: MedGen:C1856058
xref: MedGen:C1856059
xref: MedGen:CN068661
xref: MeSH:D006712
xref: MIM:236250 "phenotype"
[Term]
id: DI-01973
name: Methylmalonate semialdehyde dehydrogenase deficiency
def: "A metabolic disorder characterized by elevated beta-alanine, 3- hydroxypropionic acid, and both isomers of 3-amino and 3- hydroxyisobutyric acids in urine organic acids." []
synonym: "MMSDH deficiency" [UniProt]
xref: MedGen:C1864150
xref: MedGen:C3279840
xref: MeSH:D000592
xref: MIM:614105 "phenotype"
[Term]
id: DI-01974
name: Methylmalonyl-CoA epimerase deficiency
def: "Autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma." []
synonym: "Methylmalonic aciduria III" [UniProt]
synonym: "Methylmalonic aciduria type 3" [UniProt]
synonym: "Methylmalonyl-CoA racemase deficiency" [UniProt]
xref: MedGen:C1855100
xref: MedGen:C1855101
xref: MIM:251120 "phenotype"
[Term]
id: DI-01975
name: Mevalonic aciduria
def: "Accumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia." []
xref: MedGen:C1959626
xref: MIM:610377 "phenotype"
[Term]
id: DI-01976
name: Microcephalic osteodysplastic primordial dwarfism 2
def: "Adults with this rare inherited condition have an average height of 100 centimeters and a brain size comparable to that of a 3-month-old baby, but are of near-normal intelligence." []
synonym: "Osteodysplastic primordial dwarfism type 2" [UniProt]
xref: MedGen:C0432246
xref: MedGen:C1859451
xref: MIM:210720 "phenotype"
[Term]
id: DI-01978
name: Microtia, hearing impairment, and cleft palate
def: "A disease characterized by microtia, mixed symmetric severe to profound hearing impairment, and partial cleft palate. Microtia is a congenital deformity of the outer ear that is small and abnormally shaped. In classic microtia, the pinna is essentially absent, except for a vertical sausage-shaped skin remnant. The superior aspect of this sausage-shaped skin remnant consists of underlying unorganized cartilage, and the inferior aspect of this remnant consists of a relatively well-formed lobule. Syndromic forms of microtia occur in conjunction with other abnormalities including cleft palate, a congenital fissure of the soft and/or hard palate due to faulty fusion." []
xref: MedGen:C2676772
xref: MeSH:D000013
xref: MIM:612290 "phenotype"
[Term]
id: DI-01979
name: Diarrhea 2, with microvillus atrophy, with or without cholestasis
def: "A disease characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset microvillus inclusion disease with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life." []
synonym: "Congenital familial protracted diarrhea with enterocyte brush-border abnormalities" [UniProt]
synonym: "Davidson disease" [UniProt]
synonym: "Intractable diarrhea of infancy" [UniProt]
synonym: "Microvillus atrophy congenital" [UniProt]
synonym: "Microvillus inclusion disease 1" [UniProt]
synonym: "MVID1" [UniProt]
xref: MedGen:C0341306
xref: MeSH:D003968
xref: MIM:251850 "phenotype"
[Term]
id: DI-01980
name: Mismatch repair cancer syndrome 1
def: "An autosomal recessive form of mismatch repair cancer syndrome, a childhood cancer predisposition syndrome encompassing a broad tumor spectrum. This includes hematological malignancies, central nervous system tumors, Lynch syndrome-associated malignancies such as colorectal tumors as well as multiple intestinal polyps, embryonic tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature reminiscent of neurofibromatosis type 1, are often found as first manifestation of the underlying cancer." []
synonym: "Brain tumor-polyposis syndrome 1" [UniProt]
synonym: "BTP1 syndrome" [UniProt]
synonym: "BTPS1" [UniProt]
synonym: "Childhood cancer syndrome" [UniProt]
synonym: "CMMRDS" [UniProt]
synonym: "Constitutional mismatch repair deficiency syndrome" [UniProt]
synonym: "Mismatch repair deficiency" [UniProt]
synonym: "MMR deficiency" [UniProt]
synonym: "Turcot syndrome" [UniProt]
xref: MedGen:C0265325
xref: MeSH:D009386
xref: MIM:276300 "phenotype"
[Term]
id: DI-01981
name: Mitochondrial complex I deficiency, nuclear type 1
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease." []
synonym: "Complex I mitochondrial respiratory chain deficiency" [UniProt]
synonym: "Deficiency of mitochondrial NADH dehydrogenase component of complex I" [UniProt]
synonym: "Mitochondrial complex I deficiency" [UniProt]
synonym: "NADH-Coenzyme Q reductase deficiency" [UniProt]
synonym: "NADH:Q(1) oxidoreductase deficiency" [UniProt]
synonym: "NADH:Ubiquinone oxidoreductase deficiency" [UniProt]
xref: MedGen:C2936907
xref: MedGen:CN257533
xref: MeSH:D028361
xref: MIM:252010 "phenotype"
[Term]
id: DI-01982
name: Mitochondrial complex III deficiency, nuclear type 1
def: "A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance." []
synonym: "Complex 3 mitochondrial respiratory chain deficiency" [UniProt]
synonym: "Complex III mitochondrial respiratory chain deficiency" [UniProt]
xref: MedGen:C1852372
xref: MedGen:C3541471
xref: MeSH:D017237
xref: MIM:124000 "phenotype"
[Term]
id: DI-01983
name: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome
def: "Genetically heterogeneous disorder, characterized by episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness." []
xref: MedGen:C0162671
xref: MIM:540000 "phenotype"
[Term]
id: DI-01984
name: Mitochondrial DNA depletion syndrome 1, MNGIE type
def: "A multisystem disease associated with mitochondrial dysfunction. It is clinically characterized by onset between the second and fifth decades of life, ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility (often pseudoobstruction), diffuse leukoencephalopathy, cachexia, peripheral neuropathy, and myopathy." []
synonym: "Mitochondrial neurogastrointestinal encephalomyopathy" [UniProt]
synonym: "Mitochondrial neurogastrointestinal encephalopathy syndrome TYMP-related" [UniProt]
synonym: "Myoneurogastrointestinal encephalomyopathy" [UniProt]
synonym: "POLIP syndrome" [UniProt]
synonym: "Polyneuropathy ophthalmoplegia leukoencephalopathy and intestinal pseudoobstruction" [UniProt]
xref: MedGen:C0872218
xref: MeSH:D017237
xref: MIM:603041 "phenotype"
[Term]
id: DI-01985
name: Mitochondrial phosphate carrier deficiency
def: "An autosomal recessive disorder of oxidative phosphorylation. Patients have lactic acidosis, hypertrophic cardiomyopathy and muscular hypotonia and die within the first year of life." []
synonym: "Neonatal hypertrophic cardiomyopathy, respiratory insufficiency, hypotonia, and lactic acidosis" [UniProt]
xref: MedGen:C1835845
xref: MeSH:D028361
xref: MIM:610773 "phenotype"
[Term]
id: DI-01986
name: Mitochondrial phosphoenolpyruvate carboxykinase deficiency
def: "Metabolic disorder resulting from impaired gluconeogenesis. It is a rare disease with less than 10 cases reported in the literature. Clinical characteristics include hypotonia, hepatomegaly, failure to thrive, lactic acidosis and hypoglycemia. Autopsy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal recessive trait." []
xref: MedGen:C1849821
xref: MIM:261650 "phenotype"
[Term]
id: DI-01987
name: Miyoshi muscular dystrophy 1
def: "A late-onset muscular dystrophy involving the distal lower limb musculature. It is characterized by weakness that initially affects the gastrocnemius muscle during early adulthood." []
synonym: "Miyoshi myopathy" [UniProt]
synonym: "Muscular dystrophy distal late-onset autosomal recessive" [UniProt]
xref: MedGen:C1850808
xref: MeSH:D049310
xref: MIM:254130 "phenotype"
[Term]
id: DI-01988
name: Mohr-Tranebjaerg syndrome
def: "An X-linked recessive disorder characterized by postlingual sensorineural deafness with onset in early childhood, dystonia, spasticity, dysphagia, mental deterioration, paranoia and cortical blindness." []
synonym: "DDP" [UniProt]
synonym: "DDS" [UniProt]
synonym: "Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency" [UniProt]
synonym: "Deafness-dystonia-optic atrophy syndrome" [UniProt]
synonym: "DFN-1" [UniProt]
synonym: "Dystonia-deafness syndrome" [UniProt]
synonym: "Jensen syndrome" [UniProt]
synonym: "Opticoacoustic nerve atrophy with dementia" [UniProt]
synonym: "X-linked progressive deafness type 1" [UniProt]
xref: MedGen:C0796074
xref: MeSH:D008607
xref: MeSH:D054062
xref: MIM:304700 "phenotype"
[Term]
id: DI-01989
name: Molybdenum cofactor deficiency A
def: "An autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients." []
synonym: "Combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase" [UniProt]
synonym: "Molybdenum cofactor deficiency, complementation group A" [UniProt]
synonym: "Molybdenum cofactor deficiency, type A" [UniProt]
xref: MedGen:C0268119
xref: MedGen:C1854988
xref: MeSH:D008664
xref: MIM:252150 "phenotype"
[Term]
id: DI-01990
name: Molybdenum cofactor deficiency B
def: "An autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood." []
synonym: "Molybdenum cofactor deficiency, complementation group B" [UniProt]
synonym: "Molybdenum cofactor deficiency, type B" [UniProt]
xref: MedGen:C1854989
xref: MeSH:D008664
xref: MIM:252160 "phenotype"
[Term]
id: DI-01991
name: Molybdenum cofactor deficiency C
def: "A form of molybdenum cofactor deficiency, an autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients." []
synonym: "Molybdenum cofactor deficiency, complementation group C" [UniProt]
synonym: "Molybdenum cofactor deficiency, type C" [UniProt]
xref: MedGen:C1854990
xref: MeSH:D008664
xref: MIM:615501 "phenotype"
[Term]
id: DI-01992
name: Monilethrix
def: "A disorder clinically characterized by alopecia and follicular papules. Affected hairs have uniform elliptical nodes of normal thickness and intermittent constrictions, internodes at which the hair easily breaks. Usually only the scalp is involved, but in severe forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected." []
xref: MedGen:C0546966
xref: MeSH:D056734
xref: MIM:158000 "phenotype"
[Term]
id: DI-01993
name: Monocarboxylate transporter 8 deficiency
def: "Consists of a severe form of X-linked psychomotor retardation combined with abnormal thyroid hormone (TH) levels. Thyroid hormone deficiency can be caused by defects of hormone synthesis and action, but it has also been linked to a defect in cellular hormone transport. Affected patients are males with abnormal relative concentrations of three circulating iodothyronines, as well as severe neurological abnormalities, including global developmental delay, central hypotonia, spastic quadriplegia, dystonic movements, rotary nystagmus, and impaired gaze and hearing. Heterozygous females had a milder thyroid phenotype and no neurological defects." []
synonym: "AHDS" [UniProt]
synonym: "Allan-Herndon-Dudley syndrome" [UniProt]
xref: MedGen:C0795889
xref: MIM:300523 "phenotype"
[Term]
id: DI-01994
name: Mosaic variegated aneuploidy syndrome 1
def: "A severe developmental disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases." []
synonym: "MVA syndrome" [UniProt]
xref: MedGen:C1850343
xref: MeSH:D025063
xref: MIM:257300 "phenotype"
[Term]
id: DI-01995
name: Mucolipidosis type II
def: "Fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features, peculiar fibroblast inclusions, and no excessive mucopolysacchariduria. Congenital dislocation of the hip, thoracic deformities, hernia, and hyperplastic gums are evident soon after birth." []
synonym: "I-cell disease" [UniProt]
synonym: "ICD" [UniProt]
synonym: "Inclusion cell disease" [UniProt]
xref: MedGen:C0020725
xref: MedGen:C2673377
xref: MIM:252500 "phenotype"
[Term]
id: DI-01996
name: Mucolipidosis type III complementation group A
def: "Autosomal recessive disease of lysosomal enzyme targeting. Clinically MLIII is characterized by restricted joint mobility, skeletal dysplasia, and short stature. Mildly coarsened facial features and thickening of the skin have been described. Cardiac valvular disease and corneal clouding may also occur. Half of the reported patients show learning disabilities or intellectual disability." []
synonym: "Cariant pseudo-Hurler polydystrophy" [UniProt]
xref: MedGen:C0033788
xref: MedGen:C2673375
xref: MIM:252600 "phenotype"
[Term]
id: DI-01997
name: Mucolipidosis type III complementation group C
def: "Autosomal recessive disease of lysosomal hydrolase trafficking. Unlike the related diseases, mucolipidosis II and IIIA, the enzyme affected in mucolipidosis IIIC (GlcNAc-phosphotransferase) retains full transferase activity on synthetic substrates but lacks activity on lysosomal hydrolases. Typical clinical findings include stiffness of the hands and shoulders, claw-hand deformity, scoliosis, short stature, coarse facies, and mild intellectual disability. Radiographically, severe dysostosis multiplex of the hip is characteristic and frequently disabling. The clinical diagnosis can be confirmed by finding elevated serum lysosomal enzyme levels and/or decreased lysosomal enzyme levels in cultured fibroblasts." []
synonym: "Variant pseudo-Hurler polydystrophy" [UniProt]
xref: MedGen:C1854896
xref: MIM:252605 "phenotype"
[Term]
id: DI-01998
name: Mucolipidosis 4
def: "An autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation and ophthalmologic abnormalities, including corneal opacity, retinal degeneration and strabismus. Storage bodies of lipids and water-soluble substances are seen by electron microscopy in almost every cell type of the patients. Most patients are unable to speak or walk independently and reach a maximal developmental level of 1-2 years. All patients have constitutive achlorhydia associated with a secondary elevation of serum gastrin levels." []
synonym: "MLIV" [UniProt]
synonym: "Mucolipidosis IV" [UniProt]
synonym: "Mucolipidosis type IV" [UniProt]
synonym: "Sialolipidosis" [UniProt]
xref: MedGen:C0238286
xref: MeSH:D009081
xref: MIM:252650 "phenotype"
[Term]
id: DI-01999
name: Mullerian aplasia and hyperandrogenism
def: "A disorder of sex development. Affected females manifest dysgenesis of Mullerian duct derivatives absent or rudimentary uterus and vagina, functional ovaries, primary amenorrhea, hyperandrogenism and hirsutism." []
synonym: "Mullerian duct failure and hyperandrogenism" [UniProt]
xref: MedGen:C2675014
xref: MeSH:D058489
xref: MIM:158330 "phenotype"
[Term]
id: DI-02000
name: Muir-Torre syndrome
def: "Rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy." []
synonym: "MTS" [UniProt]
xref: MedGen:C1321489
xref: MIM:158320 "phenotype"
[Term]
id: DI-02001
name: Mulibrey nanism
def: "An autosomal recessive growth disorder characterized by severe growth failure of prenatal onset, constrictive pericardium and progressive cardiomyopathy, facial dysmorphism, and failure of sexual maturation. Additional clinical features include hepatomegaly, muscle hypotonia, J-shaped sella turcica, yellowish dots in the ocular fundi, hypoplasia of various endocrine glands, insulin resistance with type 2 diabetes, and an increased risk for Wilms' tumor." []
synonym: "Muscle-liver-brain-eye nanism" [UniProt]
synonym: "Perheentupa syndrome" [UniProt]
synonym: "Pericardial constriction and growth failure" [UniProt]
xref: MedGen:C0524582
xref: MeSH:D050336
xref: MIM:253250 "phenotype"
[Term]
id: DI-02002
name: Congenital myopathy 1B, autosomal recessive
def: "An autosomal recessive myopathy characterized by severe hypotonia and generalized muscle weakness and atrophy apparent soon after birth or in early childhood. Affected individuals show delayed motor development, proximal muscle weakness with axial and shoulder girdle involvement, difficulty walking or running, external ophthalmoplegia, and bulbar weakness often resulting in feeding difficulties and respiratory insufficiency. Disease severity is variable. Some affected individuals show symptoms in utero, including reduced fetal movements, polyhydramnios, and intrauterine growth restriction. Some patients have lethal fetal akinesia with death in utero. Muscle biopsy can show variable findings, including multiple and poorly circumscribed areas of sarcomere disorganization and mitochondria depletion (areas termed minicores). Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present." []
synonym: "Minicore myopathy with external ophthalmoplegia" [UniProt]
synonym: "MMDO" [UniProt]
synonym: "Multicore myopathy with external ophthalmoplegia" [UniProt]
synonym: "Multiminicore disease with external ophthalmoplegia" [UniProt]
xref: MedGen:C1850674
xref: MeSH:D020512
xref: MIM:255320 "phenotype"
[Term]
id: DI-02003
name: Hereditary leiomyomatosis and renal cell cancer
def: "A disorder characterized by predisposition to cutaneous and uterine leiomyomas, and papillary type 2 renal cancer which occurs in about 20% of patients." []
synonym: "Leiomyoma multiple cutaneous" [UniProt]
synonym: "Leiomyomatosis and renal cell cancer hereditary" [UniProt]
synonym: "LRCC" [UniProt]
synonym: "MCL" [UniProt]
synonym: "MCUL1" [UniProt]
synonym: "Multiple cutaneous and uterine leiomyomata" [UniProt]
synonym: "Multiple cutaneous and uterine leiomyomata 1 with or without renal cell carcinoma" [UniProt]
xref: MedGen:C1708350
xref: MedGen:C1835485
xref: MeSH:D018231
xref: MIM:150800 "phenotype"
[Term]
id: DI-02004
name: Multiple endocrine neoplasia 4
def: "Multiple endocrine neoplasia (MEN) syndromes are inherited cancer syndromes of the thyroid. MEN4 is a MEN-like syndrome with a phenotypic overlap of both MEN1 and MEN2." []
xref: MedGen:C1970712
xref: MIM:610755 "phenotype"
[Term]
id: DI-02005
name: Tricho-rhino-phalangeal syndrome 2
def: "A syndrome that combines the clinical features of tricho-rhino- phalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and intellectual disability." []
xref: MedGen:C0023003
xref: MIM:150230 "phenotype"
[Term]
id: DI-02006
name: Potocki-Shaffer syndrome
def: "A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis, and intellectual disability in some cases." []
synonym: "Chromosome 11p11.2 deletion syndrome" [UniProt]
xref: MedGen:C1832588
xref: MeSH:D002872
xref: MIM:601224 "phenotype"
[Term]
id: DI-02007
name: Multiple familial trichoepithelioma 1
def: "Autosomal dominant dermatosis characterized by the presence of many skin tumors predominantly on the face. Since histologic examination shows dermal aggregates of basaloid cells with connection to or differentiation toward hair follicles, this disorder has been thought to represent a benign hamartoma of the pilosebaceous apparatus. Trichoepitheliomas can degenerate into basal cell carcinoma." []
synonym: "Brooke-Fordyce trichoepitheliomas" [UniProt]
synonym: "EAC" [UniProt]
synonym: "Epithelioma adenoides cysticum of Brooke" [UniProt]
synonym: "Hereditary multiple benign cystic epithelioma" [UniProt]
xref: MedGen:C1275122
xref: MIM:601606 "phenotype"
[Term]
id: DI-02008
name: Multiple neoplasia 2A
def: "The most frequent form of medullary thyroid cancer (MTC). It is an inherited cancer syndrome characterized by MTC, phaeochromocytoma and/or hyperparathyroidism." []
synonym: "MEN2" [UniProt]
synonym: "Multiple neoplasia type 2" [UniProt]
xref: MedGen:C0025268
xref: MIM:171400 "phenotype"
[Term]
id: DI-02009
name: Multiple neoplasia 2B
def: "Uncommon inherited cancer syndrome characterized by predisposition to MTC and phaeochromocytoma which is associated with marfanoid habitus, mucosal neuromas, skeletal and ophthalmic abnormalities, and ganglioneuromas of the intestine tract. Then the disease progresses rapidly with the development of metastatic MTC and a pheochromocytome in 50% of cases." []
xref: MedGen:C0025269
xref: MIM:162300 "phenotype"
[Term]
id: DI-02010
name: Multiple synostoses syndrome 1
def: "A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism." []
synonym: "Deafness-symphalangism syndrome of Herrmann" [UniProt]
synonym: "Facioaudiosymphalangism syndrome" [UniProt]
synonym: "Symphalangism-brachydactyly syndrome" [UniProt]
synonym: "Synostoses multiple with brachydactyly" [UniProt]
synonym: "WL syndrome" [UniProt]
xref: MedGen:C0342282
xref: MeSH:D013580
xref: MIM:186500 "phenotype"
[Term]
id: DI-02011
name: Multiple synostoses syndrome 2
def: "A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism." []
xref: MedGen:C1832708
xref: MeSH:D013580
xref: MIM:610017 "phenotype"
[Term]
id: DI-02012
name: Muscle glycogen storage disease 0
def: "Metabolic disorder characterized by fasting hypoglycemia presenting in infancy or early childhood. The role of muscle glycogen is to provide critical energy during bursts of activity and sustained muscle work." []
synonym: "Muscle glycogen synthase deficiency" [UniProt]
xref: MedGen:C1969054
xref: MIM:611556 "phenotype"
[Term]
id: DI-02013
name: Glycogen storage disease 13
def: "A metabolic disorder that results in exercise-induced myalgias, generalized muscle weakness and fatigability. It is characterized by increased serum creatine kinase and decreased enolase 3 activity. Dramatically reduced protein levels with focal sarcoplasmic accumulation of glycogen-beta particles are detected on ultrastructural analysis." []
synonym: "Enolase 3 deficiency" [UniProt]
synonym: "Enolase-beta deficiency" [UniProt]
synonym: "Glycogen storage disease XIII" [UniProt]
synonym: "Glycogenosis type XIII" [UniProt]
synonym: "GSD XIII" [UniProt]
synonym: "Muscle-specific enolase-beta deficiency" [UniProt]
xref: MedGen:C2752027
xref: MeSH:D006008
xref: MIM:612932 "phenotype"
[Term]
id: DI-02015
name: Immunodeficiency 68
def: "An autosomal recessive primary immunodeficiency characterized by life- threatening, often recurrent, pyogenic bacterial infections, including invasive pneumococcal disease, beginning in infancy or early childhood." []
synonym: "MYD88 deficiency" [UniProt]
synonym: "MYD88D" [UniProt]
synonym: "Recurrent pyogenic bacterial infections due to MYD88 deficiency" [UniProt]
xref: MedGen:C2677092
xref: MeSH:D007153
xref: MIM:612260 "phenotype"
[Term]
id: DI-02016
name: Myeloperoxidase deficiency
def: "A disorder characterized by decreased myeloperoxidase activity in neutrophils and monocytes that results in disseminated candidiasis." []
synonym: "MPO deficiency" [UniProt]
xref: MedGen:C0398595
xref: MeSH:D002177
xref: MIM:254600 "phenotype"
[Term]
id: DI-02017
name: Myocardial infarction 1
def: "A condition defined by the irreversible necrosis of heart muscle secondary to prolonged ischemia." []
synonym: "Premature myocardial infarction" [UniProt]
xref: MedGen:C1832662
xref: MedGen:C1838021
xref: MedGen:C3277063
xref: MeSH:D009203
xref: MIM:608446 "phenotype"
[Term]
id: DI-02018
name: Mitochondrial DNA depletion syndrome 2
def: "A disorder due to mitochondrial dysfunction characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle. There is wide clinical variability; some patients have onset in infancy and show a rapidly progressive course with early death due to respiratory failure, whereas others have later onset of a slowly progressive myopathy." []
synonym: "Mitochondrial DNA depletion myopathy TK2-related" [UniProt]
synonym: "Mitochondrial DNA depletion syndrome 2 myopathic type" [UniProt]
synonym: "Myopathic mitochondrial DNA depletion syndrome" [UniProt]
xref: MedGen:C3149750
xref: MeSH:D017240
xref: MIM:609560 "phenotype"
[Term]
id: DI-02019
name: Myopathy with exercise intolerance Swedish type
def: "Autosomal recessive metabolic disease characterized by lifelong severe exercise intolerance, in which minor exertion causes fatigue of active muscles, shortness of breath, and cardiac palpitations in association with lactic acidosis. The biochemical phenotype is characterized by a deficiency in mitochondrial iron-sulfur proteins and impaired muscle oxidative metabolism." []
synonym: "Hereditary myopathy with lactic acidosis" [UniProt]
synonym: "HML" [UniProt]
synonym: "Myoglobinuria due to abnormal glycolysis" [UniProt]
synonym: "Myopathy with deficiency of succinate dehydrogenase and aconitase" [UniProt]
xref: MedGen:C1850718
xref: MIM:255125 "phenotype"
[Term]
id: DI-02020
name: Myopathy with lactic acidosis and sideroblastic anemia 1
def: "A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest progressive muscle weakness, exercise intolerance, lactic acidosis, sideroblastic anemia and delayed growth." []
synonym: "Mitochondrial myopathy and sideroblastic anemia" [UniProt]
xref: MedGen:C1838103
xref: MeSH:D000140
xref: MeSH:D000756
xref: MIM:600462 "phenotype"
[Term]
id: DI-02021
name: Congenital myopathy 7A, myosin storage, autosomal dominant
def: "A skeletal muscle disorder characterized by prominent axial and proximal weakening, spinal stiffness, severe scoliosis, with or without respiratory and cardiac involvement. The age at symptom onset can range from early childhood to late adulthood, and disease severity ranges from asymptomatic to severe muscular weakness and respiratory insufficiency. Histopathological examination shows variable findings including subsarcolemmal hyaline bodies in type 1 fibers." []
synonym: "Hyaline body myopathy autosomal dominant" [UniProt]
synonym: "MSMA" [UniProt]
synonym: "Myopathy, myosin storage, autosomal dominant" [UniProt]
synonym: "Scapuloperoneal muscular dystrophy" [UniProt]
synonym: "Scapuloperoneal myopathy MYH7-related" [UniProt]
synonym: "Scapuloperoneal syndrome, myopathic type" [UniProt]
synonym: "SPMD" [UniProt]
synonym: "SPMM" [UniProt]
xref: MedGen:C1842160
xref: MeSH:D009135
xref: MIM:608358 "phenotype"
[Term]
id: DI-02022
name: Myopathy, myofibrillar, 3
def: "A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM3 is characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins and prominent congophilic deposits." []
synonym: "LGMD1" [UniProt]
synonym: "LGMD1A" [UniProt]
synonym: "Limb-girdle muscular dystrophy 1A" [UniProt]
synonym: "MFM myotilin-related" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 1" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 1A" [UniProt]
synonym: "Myopathy myofibrillar myotylin-related" [UniProt]
synonym: "Myotilinopathy" [UniProt]
synonym: "Spheroid body myopathy" [UniProt]
xref: MedGen:C1836607
xref: MeSH:D020914
xref: MIM:609200 "phenotype"
[Term]
id: DI-02023
name: Dystrophia myotonica 1
def: "A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias." []
synonym: "DM" [UniProt]
synonym: "Dystrophia myotonica" [UniProt]
synonym: "Myotonic dystrophy 1" [UniProt]
synonym: "Steinert disease" [UniProt]
synonym: "Steinert myotonic dystrophy" [UniProt]
xref: MedGen:C0027126
xref: MedGen:C2931688
xref: MeSH:D009223
xref: MIM:160900 "phenotype"
[Term]
id: DI-02024
name: Dystrophia myotonica 2
def: "A multisystem disease characterized by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Additional features can include hyperhidrosis, testicular atrophy, insulin resistance and diabetes and central nervous system anomalies in rare cases." []
synonym: "Myotonic dystrophy 2" [UniProt]
synonym: "PROMM" [UniProt]
synonym: "Proximal myotonic myopathy" [UniProt]
synonym: "Ricker syndrome" [UniProt]
xref: MedGen:C0752354
xref: MedGen:C2931689
xref: MeSH:D009223
xref: MeSH:D020967
xref: MIM:602668 "phenotype"
[Term]
id: DI-02025
name: N-acetylglutamate synthase deficiency
def: "Rare autosomal recessively inherited metabolic disorder leading to severe neonatal or late-onset hyperammonemia without increased excretion of orotic acid. Clinical symptoms are somnolence, tachypnea, feeding difficulties, a severe neurologic presentation characterized by uncontrollable movements, developmental delay, visual impairment, failure to thrive and hyperammonemia precipitated by the introduction of high-protein diet or febrile illness." []
synonym: "Hyperammonemia due to N-acetylglutamate synthetase deficiency" [UniProt]
synonym: "N-acetylglutamate synthetase deficiency" [UniProt]
synonym: "NAGS deficiency" [UniProt]
xref: MedGen:C0268543
xref: MeSH:D056806
xref: MIM:237310 "phenotype"
[Term]
id: DI-02026
name: Nail-patella syndrome
def: "Disease that cause abnormal skeletal patterning and renal dysplasia." []
synonym: "Onychoosteodysplasia" [UniProt]
xref: MedGen:C0027341
xref: MIM:161200 "phenotype"
[Term]
id: DI-02027
name: Nance-Horan syndrome
def: "Rare X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, intellectual disability. Distinctive dental anomalies are seen in affected males, including supernumerary incisors and crown shaped permanent teeth. Characteristic facial features are anteverted pinnae, long face, and prominent nasal bridge and nose. Carrier females display milder variable symptoms of disease with lens opacities often involving the posterior Y sutures, and on occasion dental anomalies and the characteristic facial features described." []
synonym: "Cataract-dental syndrome" [UniProt]
xref: MedGen:C0796085
xref: MIM:302350 "phenotype"
[Term]
id: DI-02028
name: Nanophthalmos 2
def: "Rare autosomal recessive disorder of eye development characterized by extreme hyperopia and small functional eyes." []
synonym: "Nanophthalmia 2" [UniProt]
synonym: "Nanophthalmos, autosomal recessive" [UniProt]
xref: MedGen:C1836006
xref: MeSH:D008850
xref: MIM:609549 "phenotype"
[Term]
id: DI-02029
name: Narcolepsy 1
def: "Neurological disabling sleep disorder, characterized by excessive daytime sleepiness, sleep fragmentation, symptoms of abnormal rapid- eye-movement (REM) sleep, cataplexy, hypnagogic hallucinations, and sleep paralysis. Cataplexy is a sudden loss of muscle tone triggered by emotions, which is the most valuable clinical feature used to diagnose narcolepsy. Human narcolepsy is primarily a sporadically occurring disorder but familial clustering has been observed." []
synonym: "Narcolepsy-cataplexy syndrome" [UniProt]
synonym: "Narcoleptic syndrome 1" [UniProt]
xref: MedGen:C0007384
xref: MedGen:C1834372
xref: MeSH:D009290
xref: MIM:161400 "phenotype"
[Term]
id: DI-02031
name: Diabetes mellitus, neonatal, with congenital hypothyroidism
def: "A syndrome of neonatal diabetes syndrome associated with congenital hypothyroidism, congenital glaucoma, hepatic fibrosis and polycystic kidneys." []
synonym: "NDH syndrome" [UniProt]
xref: MedGen:C1857775
xref: MeSH:D003409
xref: MeSH:D003920
xref: MIM:610199 "phenotype"
[Term]
id: DI-02032
name: Congenital myopathy 4B, autosomal recessive
def: "A muscular disorder characterized by muscle weakness appearing in infancy or early childhood. Most affected individuals show congenital contractures, delayed motor development, hypotonia, respiratory insufficiency, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty walking or inability to walk. Skeletal muscle biopsy shows variable histologic findings, including nemaline rods, type 1 fiber predomination, and centralized nuclei." []
xref: MedGen:C1836448
xref: MeSH:D017696
xref: MIM:609284 "phenotype"
[Term]
id: DI-02033
name: Nemaline myopathy 2
def: "A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination." []
synonym: "NEB-related nemaline myopathy" [UniProt]
xref: MedGen:C1850569
xref: MedGen:CN187052
xref: MeSH:D017696
xref: MIM:256030 "phenotype"
[Term]
id: DI-02034
name: Congenital myopathy 2A, typical, autosomal dominant
def: "A muscular disorder characterized by generalized muscle weakness, delayed motor milestones, hypotonia, and muscle fiber abnormalities on histologic examination. Histologic findings include abnormal thread- or rod-like structures (nemaline rods), intranuclear rods, clumped filaments, cores, or fiber-type disproportion. The spectrum of clinical phenotypes ranges from severe neonatal presentations to onset of a milder disorder in childhood." []
synonym: "ACTA1-related nemaline myopathy" [UniProt]
synonym: "Actin myopathy congenital with cores" [UniProt]
synonym: "Myopathy, actin, congenital, with excess of thin myofilaments" [UniProt]
synonym: "NEM3" [UniProt]
synonym: "Nemaline myopathy 3" [UniProt]
synonym: "Nemaline myopathy 3 with intranuclear rods" [UniProt]
xref: MedGen:C1834336
xref: MedGen:C2750536
xref: MedGen:C2750537
xref: MedGen:CN187050
xref: MeSH:D017696
xref: MIM:161800 "phenotype"
[Term]
id: DI-02035
name: Congenital myopathy 23
def: "An autosomal dominant muscular disorder characterized clinically by hypotonia and muscle weakness, and a static or slowly progressive clinical course. Disease onset ranges from birth to childhood. Histologic examination of muscle fibers shows various anomalies including fiber type disproportion, an irregular myofibrillar network, abnormal thread-like or rod-shaped structures, and cap-like structures which are well demarcated and peripherally located under the sarcolemma with abnormal accumulation of sarcomeric proteins." []
synonym: "Cap myopathy 2" [UniProt]
synonym: "CAPM2" [UniProt]
synonym: "NEM4" [UniProt]
synonym: "Nemaline myopathy 4" [UniProt]
synonym: "TPM2-related nemaline myopathy" [UniProt]
xref: MedGen:C1836447
xref: MeSH:D017696
xref: MIM:609285 "phenotype"
[Term]
id: DI-02036
name: Nemaline myopathy 5A, autosomal recessive, severe infantile
def: "A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM5A is a severe and progressive form characterized by symptom onset soon after birth or in early infancy. Affected infants display tremors with hypotonia and mild contractures of the shoulders and hips. Proximal contractures progressively weaken and a pectus carinatum deformity develops before children die of respiratory insufficiency, usually in the second year." []
synonym: "Amish nemaline myopathy" [UniProt]
synonym: "ANM" [UniProt]
synonym: "Nemaline myopathy Amish type" [UniProt]
synonym: "TNNT1-related nemaline myopathy" [UniProt]
xref: MedGen:C1854380
xref: MeSH:D017696
xref: MIM:605355 "phenotype"
[Term]
id: DI-02037
name: Nemaline myopathy 7
def: "A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Nemaline myopathy type 7 presents at birth with hypotonia and generalized weakness. Major motor milestones are delayed, but independent ambulation is achieved." []
synonym: "CFL2-related nemaline myopathy" [UniProt]
synonym: "Nemaline myopathy 7, autosomal recessive" [UniProt]
xref: MedGen:C1853154
xref: MeSH:D017696
xref: MIM:610687 "phenotype"
[Term]
id: DI-02038
name: Encephalopathy, neonatal severe, due to MECP2 mutations
def: "A neurodevelopmental disorder characterized by severe neonatal encephalopathy, developmental delay, intellectual disability, microcephaly, seizures. Additional features include respiratory insufficiency and central hypoventilation, gastroesophageal reflux, axial hypotonia, hyperreflexia and dyskinetic movements." []
xref: MedGen:C1968556
xref: MeSH:D001927
xref: MIM:300673 "phenotype"
[Term]
id: DI-02039
name: Hyperparathyroidism, neonatal severe
def: "A disorder characterized by severe hypercalcemia, bone demineralization, and failure to thrive usually manifesting in the first 6 months of life. If untreated, NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without parathyroidectomy." []
synonym: "Neonatal severe primary hyperparathyroidism" [UniProt]
synonym: "NHPT" [UniProt]
synonym: "NSPH" [UniProt]
xref: MedGen:C1832645
xref: MeSH:D049950
xref: MIM:239200 "phenotype"
[Term]
id: DI-02040
name: Nephrogenic syndrome of inappropriate antidiuresis
def: "Characterized by an inability to excrete a free water load, with inappropriately concentrated urine and resultant hyponatremia, hypoosmolarity, and natriuresis." []
xref: MedGen:C1845202
xref: MIM:300539 "phenotype"
[Term]
id: DI-02041
name: Nephrotic syndrome 3
def: "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. Most patients with NPHS3 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen." []
synonym: "Early-onset nephrotic syndrome type 3" [UniProt]
xref: MedGen:C1853124
xref: MeSH:D009404
xref: MIM:610725 "phenotype"
[Term]
id: DI-02042
name: Neural tube defects
def: "Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components." []
synonym: "Spina bifida" [UniProt]
xref: MedGen:C0027794
xref: MedGen:C0080178
xref: MeSH:D009436
xref: MIM:182940 "phenotype"
[Term]
id: DI-02043
name: Neurodegeneration with brain iron accumulation 2B
def: "A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive extrapyramidal dysfunction leading to rigidity, dystonia, dysarthria and sensorimotor impairment." []
synonym: "Atypical neuroaxonal dystrophy" [UniProt]
synonym: "Karak syndrome" [UniProt]
synonym: "Neurodegeneration with brain iron accumulation PLA2G6-related" [UniProt]
xref: MedGen:C1857747
xref: MedGen:C2750220
xref: MeSH:D001480
xref: MeSH:D019150
xref: MeSH:D019189
xref: MIM:610217 "phenotype"
[Term]
id: DI-02044
name: Neurodegeneration with brain iron accumulation 3
def: "A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by a variety of neurological signs including parkinsonism, ataxia, corticospinal signs, mild non-progressive cognitive deficit and episodic psychosis. It is linked with decreased serum ferritin levels." []
synonym: "Adult-onset basal ganglia disease" [UniProt]
synonym: "Neuroferritinopathy" [UniProt]
xref: MedGen:C1853578
xref: MeSH:D001480
xref: MeSH:D019150
xref: MeSH:D019189
xref: MIM:606159 "phenotype"
[Term]
id: DI-02045
name: Schwannomatosis, vestibular
def: "An autosomal dominant neoplasia syndrome characterized by the development of multiple benign nerve sheath tumors called schwannomas, particularly affecting the vestibular nerve. Affected individuals usually present with bilateral vestibular schwannomas but can have schwannomas on other cranial, spinal, and peripheral/cutaneous nerves. Meningiomas are common, whereas 20 to 35% of affected individuals develop intramedullary spinal cord tumors called ependymomas. The condition is also characterized by several ophthalmic features such as lenticular opacities, retinal hamartoma, epiretinal membranes." []
synonym: "Acoustic neurinoma, bilateral" [UniProt]
synonym: "Acoustic schwannomas, bilateral" [UniProt]
synonym: "ANC" [UniProt]
synonym: "BANF" [UniProt]
synonym: "Bilateral acoustic neurofibromatosis" [UniProt]
synonym: "Central neurofibromatosis" [UniProt]
synonym: "Neurofibromatosis 2" [UniProt]
synonym: "NF2" [UniProt]
synonym: "Schwannomatosis 3" [UniProt]
synonym: "SWN3" [UniProt]
xref: MedGen:C0027832
xref: MeSH:D016518
xref: MIM:101000 "phenotype"
[Term]
id: DI-02046
name: Legius syndrome
def: "An autosomal dominant syndrome characterized mainly by cafe-au-lait macules without neurofibromas or other tumor manifestations of neurofibromatosis type 1, axillary freckling, and macrocephaly. Additional clinical manifestations include Noonan-like facial dysmorphism, lipomas, learning disabilities, and features of attention deficit-hyperactivity disorder." []
synonym: "Neurofibromatosis 1-like syndrome" [UniProt]
synonym: "NFLS" [UniProt]
xref: MedGen:C1969623
xref: MeSH:D019080
xref: MIM:611431 "phenotype"
[Term]
id: DI-02047
name: Neurofibromatosis-Noonan syndrome
def: "Characterized by manifestations of both NF1 and Noonan syndrome (NS). NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis." []
xref: MedGen:C2931482
xref: MIM:601321 "phenotype"
[Term]
id: DI-02048
name: Neuropathy, ataxia, and retinitis pigmentosa
def: "A syndrome characterized by variable combination of developmental delay, psychomotor retardation, hearing loss, optic atrophy and retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy." []
synonym: "NARP syndrome" [UniProt]
synonym: "Neurogenic muscle weakness, ataxia, and retinitis pigmentosa" [UniProt]
xref: MedGen:C1328349
xref: MedGen:C1838914
xref: MeSH:D012174
xref: MeSH:D028361
xref: MIM:551500 "phenotype"
[Term]
id: DI-02049
name: Neurogenic scapuloperoneal syndrome Kaeser type
def: "Autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy. A large clinical variability is observed ranging from scapuloperoneal, limb grindle and distal phenotypes with variable cardiac or respiratory involvement. Facial weakness, dysphagia and gynaecomastia are frequent additional symptoms. Affected men seemingly bear a higher risk of sudden, cardiac death as compared to affected women. Histological and immunohistochemical examination of muscle biopsy specimens reveal a wide spectrum of findings ranging from near normal or unspecific pathology to typical, myofibrillar changes with accumulation of desmin." []
xref: MedGen:C1867005
xref: MIM:181400 "phenotype"
[Term]
id: DI-02050
name: Neutral lipid storage disease with myopathy
def: "Neutral lipid storage disorder (NLSD) with myopathy but without ichthyosis. NLSDs are characterized by the presence of triglyceride- containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Individuals with NLSDM did not show obesity, in spite of a defect in triglyceride degradation in fibroblasts and in marked triglyceride storage in liver, muscles, and other visceral cells." []
synonym: "Neutral lipid storage disease without ichthyosis" [UniProt]
xref: MedGen:C1853136
xref: MIM:610717 "phenotype"
[Term]
id: DI-02051
name: Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis
def: "An autosomal dominant immunologic disorder characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, invasive infections, and poor wound healing." []
synonym: "Neutrophil immunodeficiency syndrome" [UniProt]
xref: MedGen:C1842398
xref: MeSH:D007153
xref: MIM:608203 "phenotype"
[Term]
id: DI-02053
name: Niemann-Pick disease A
def: "An early-onset lysosomal storage disorder caused by failure to hydrolyze sphingomyelin to ceramide. It results in the accumulation of sphingomyelin and other metabolically related lipids in reticuloendothelial and other cell types throughout the body, leading to cell death. Niemann-Pick disease type A is a primarily neurodegenerative disorder characterized by onset within the first year of life, intellectual disability, digestive disorders, failure to thrive, major hepatosplenomegaly, and severe neurologic symptoms. The severe neurological disorders and pulmonary infections lead to an early death, often around the age of four. Clinical features are variable. A phenotypic continuum exists between type A (basic neurovisceral) and type B (purely visceral) forms of Niemann-Pick disease, and the intermediate types encompass a cluster of variants combining clinical features of both types A and B." []
synonym: "Classical Niemann-Pick disease" [UniProt]
synonym: "Niemann-Pick disease acute neuronopathic form" [UniProt]
synonym: "Niemann-Pick disease acute neurovisceral form" [UniProt]
synonym: "Niemann-Pick disease classical infantile form" [UniProt]
synonym: "Niemann-Pick disease intermediate protracted neurovisceral" [UniProt]
synonym: "Niemann-Pick disease neuronopathic type" [UniProt]
synonym: "Niemann-Pick disease type I" [UniProt]
synonym: "NPA" [UniProt]
synonym: "Sphingomyelin lipidosis" [UniProt]
synonym: "Sphingomyelinase deficiency" [UniProt]
xref: MedGen:C0268242
xref: MedGen:C2675646
xref: MeSH:D052536
xref: MIM:257200 "phenotype"
[Term]
id: DI-02054
name: Niemann-Pick disease B
def: "A late-onset lysosomal storage disorder caused by failure to hydrolyze sphingomyelin to ceramide. It results in the accumulation of sphingomyelin and other metabolically related lipids in reticuloendothelial and other cell types throughout the body, leading to cell death. Clinical signs involve only visceral organs. The most constant sign is hepatosplenomegaly which can be associated with pulmonary symptoms. Patients remain free of neurologic manifestations. However, a phenotypic continuum exists between type A (basic neurovisceral) and type B (purely visceral) forms of Niemann-Pick disease, and the intermediate types encompass a cluster of variants combining clinical features of both types A and B. In Niemann-Pick disease type B, onset of the first symptoms occurs in early childhood and patients can survive into adulthood." []
synonym: "Niemann-Pick disease adult non-neuronopathic form" [UniProt]
synonym: "Niemann-Pick disease intermediate with visceral involvement and rapid progression" [UniProt]
synonym: "Niemann-Pick disease type E" [UniProt]
synonym: "Niemann-Pick disease type F" [UniProt]
synonym: "Niemann-Pick disease type I" [UniProt]
synonym: "Niemann-Pick disease visceral form" [UniProt]
synonym: "NPB" [UniProt]
synonym: "Sphingomyelin lipidosis" [UniProt]
synonym: "Sphingomyelinase deficiency" [UniProt]
xref: MedGen:C0268243
xref: MedGen:C0268248
xref: MedGen:C1843418
xref: MedGen:C2675644
xref: MeSH:D052537
xref: MIM:607616 "phenotype"
[Term]
id: DI-02055
name: Niemann-Pick disease C1
def: "A lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C1 has a highly variable clinical phenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood. An allelic variant of Niemann-Pick disease type C1 is found in people with Nova Scotia ancestry. Patients with the Nova Scotian clinical variant are less severely affected." []
synonym: "Neurovisceral storage disease with vertical supranuclear ophthalmoplegia" [UniProt]
synonym: "Niemann-Pick disease chronic neuronopathic form" [UniProt]
synonym: "Niemann-Pick disease Nova Scotian type" [UniProt]
synonym: "Niemann-Pick disease subacute juvenile form" [UniProt]
synonym: "Niemann-Pick disease type D" [UniProt]
synonym: "Niemann-Pick disease type II" [UniProt]
synonym: "Niemann-Pick disease with cholesterol esterification block" [UniProt]
synonym: "Niemann-Pick disease without sphingomyelinase deficiency" [UniProt]
synonym: "NPC" [UniProt]
xref: MedGen:C0220756
xref: MedGen:C0268247
xref: MedGen:C1850363
xref: MedGen:C3179455
xref: MedGen:CN068592
xref: MedGen:CN068593
xref: MeSH:D052556
xref: MIM:257220 "phenotype"
[Term]
id: DI-02056
name: Niemann-Pick disease C2
def: "A lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C2 has a highly variable clinical phenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood." []
xref: MedGen:C1843366
xref: MeSH:D052556
xref: MIM:607625 "phenotype"
[Term]
id: DI-02058
name: Nijmegen breakage syndrome
def: "A disorder characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, immunodeficiency and predisposition to cancer, particularly to lymphoid malignancies." []
xref: MedGen:C0398791
xref: MedGen:C1855057
xref: MedGen:C2930831
xref: MeSH:D049932
xref: MIM:251260 "phenotype"
[Term]
id: DI-02059
name: Hyperthyroidism, non-autoimmune
def: "A condition characterized by abnormally high levels of serum thyroid hormones, thyroid hyperplasia, goiter and lack of anti-thyroid antibodies. Typical features of Graves disease such as exophthalmia, myxedema, antibodies anti-TSH receptor and lymphocytic infiltration of the thyroid gland are absent." []
synonym: "Familial hyperthyroidism due to mutations in TSH receptor" [UniProt]
synonym: "Familial non-immune hyperthyroidism" [UniProt]
synonym: "Hyperthyroidism congenital non-autoimmune" [UniProt]
synonym: "Hyperthyroidism non-autoimmune autosomal dominant" [UniProt]
synonym: "Resistance to thyroid stimulating hormone" [UniProt]
synonym: "Toxic thyroid hyperplasia autosomal dominant" [UniProt]
xref: MedGen:C1836706
xref: MeSH:D006980
xref: MIM:609152 "phenotype"
[Term]
id: DI-02060
name: Type 2 diabetes mellitus
def: "A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels." []
synonym: "Adult-onset diabetes mellitus" [UniProt]
synonym: "Diabetes mellitus type 2" [UniProt]
synonym: "Diabetes mellitus type II" [UniProt]
synonym: "Maturity-onset diabetes" [UniProt]
synonym: "Noninsulin-dependent diabetes mellitus" [UniProt]
xref: MedGen:C0011860
xref: MedGen:C1852091
xref: MeSH:D003924
xref: MIM:125853 "phenotype"
[Term]
id: DI-02061
name: Non-ketotic hyperglycinemia
def: "Autosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms." []
synonym: "GCE" [UniProt]
synonym: "Glycine encephalopathy" [UniProt]
xref: MedGen:C0268560
xref: MedGen:C0751748
xref: MIM:605899 "phenotype"
[Term]
id: DI-02062
name: Spermatogenic failure Y-linked 2
def: "A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility." []
synonym: "Azoospermia non-obstructive Y-linked" [UniProt]
synonym: "Non-obstructive azoospermia and infertility" [UniProt]
synonym: "Oligospermia non-obstructive Y-linked" [UniProt]
synonym: "Oligozoospermia non-obstructive Y-linked" [UniProt]
synonym: "Spermatogenic arrest Y-linked" [UniProt]
synonym: "Spermatogenic failure nonobstructive Y-linked" [UniProt]
xref: MedGen:C1839071
xref: MeSH:D009845
xref: MeSH:D053713
xref: MIM:415000 "phenotype"
[Term]
id: DI-02064
name: Auditory neuropathy, autosomal recessive, 1
def: "A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. In some cases AUNB1 phenotype can be temperature sensitive." []
synonym: "Nonsyndromic auditory neuropathy autosomal recessive" [UniProt]
synonym: "NSRAN" [UniProt]
xref: MedGen:C1832829
xref: MedGen:C1832830
xref: MeSH:D006319
xref: MIM:601071 "phenotype"
[Term]
id: DI-02065
name: Deafness, autosomal dominant, without vestibular involvement
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:C3149566
xref: MeSH:D006319
xref: MIM:609006 "phenotype"
[Term]
id: DI-02066
name: Deafness, autosomal recessive, 24
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:C1970239
xref: MeSH:D006319
xref: MIM:611022 "phenotype"
[Term]
id: DI-02067
name: Deafness, autosomal recessive, 67
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:C1853223
xref: MeSH:D006319
xref: MIM:610265 "phenotype"
[Term]
id: DI-02068
name: Trigonocephaly 1
def: "A keel-shaped deformation of the forehead, caused by premature fusion of the metopic sutures. It results in a triangular shape of the head." []
synonym: "Metopic craniosynostosis" [UniProt]
xref: MedGen:C0432122
xref: MeSH:D003398
xref: MIM:190440 "phenotype"
[Term]
id: DI-02070
name: Nonaka myopathy
def: "An autosomal recessive myopathy characterized by early adult onset and progressive distal muscle weakness that preferentially affects the anterior tibial muscles, usually sparing the quadriceps femoris. Some individuals may have involvement of the upper limbs or proximal muscles. Muscle biopsy reveals presence of rimmed vacuoles." []
synonym: "GNE myopathy" [UniProt]
synonym: "HIBM" [UniProt]
synonym: "IBM2" [UniProt]
synonym: "Inclusion body myopathy 2, autosomal recessive" [UniProt]
synonym: "Inclusion body myopathy, hereditary, autosomal recessive" [UniProt]
synonym: "Inclusion body myopathy, quadriceps-sparing" [UniProt]
synonym: "Myopathy, distal, with or without rimmed vacuoles" [UniProt]
synonym: "Myopathy, distal, with rimmed vacuoles" [UniProt]
synonym: "Nonaka distal myopathy" [UniProt]
synonym: "QSM" [UniProt]
xref: MedGen:C1853926
xref: MeSH:D049310
xref: MIM:605820 "phenotype"
[Term]
id: DI-02071
name: Non-alcoholic fatty liver disease 1
def: "A condition characterized by accumulation of triglycerides in the liver. It is associated with adverse metabolic consequences, including insulin resistance and dyslipidemia. In a subset of individuals, hepatic steatosis promotes an inflammatory response in the liver, referred to as steatohepatitis, which can progress to cirrhosis and liver cancer. NAFLD is the most common form of liver disease in Western countries." []
synonym: "Hepatic steatosis" [UniProt]
xref: MedGen:C2750440
xref: MedGen:C2750441
xref: MeSH:D005234
xref: MIM:613282 "phenotype"
[Term]
id: DI-02072
name: Noonan syndrome 1
def: "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. Some patients with NS1 develop multiple giant cell lesions of the jaw or other bony or soft tissues, which are classified as pigmented villonodular synovitis (PVNS) when occurring in the jaw or joints." []
synonym: "Female pseudo-Turner syndrome" [UniProt]
synonym: "Male Turner syndrome" [UniProt]
synonym: "Noonan syndrome" [UniProt]
synonym: "Noonan syndrome with pigmented villonodular synovitis" [UniProt]
synonym: "Noonan syndrome-like disorder with multiple giant cell lesions" [UniProt]
synonym: "Noonan-like/multiple giant cell lesion syndrome" [UniProt]
synonym: "Pterygium colli syndrome" [UniProt]
synonym: "Turner phenotype with normal karyotype" [UniProt]
xref: MedGen:C0041409
xref: MedGen:C1527404
xref: MeSH:D009634
xref: MIM:163950 "phenotype"
[Term]
id: DI-02073
name: Noonan syndrome 3
def: "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells." []
xref: MedGen:C1860991
xref: MeSH:D009634
xref: MIM:609942 "phenotype"
[Term]
id: DI-02074
name: Noonan syndrome 4
def: "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. Some patients with NS4 have polyarticular villonodular synovitis." []
xref: MedGen:C1853120
xref: MeSH:D009634
xref: MIM:610733 "phenotype"
[Term]
id: DI-02075
name: Noonan syndrome 5
def: "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells." []
xref: MedGen:C1969057
xref: MeSH:D009634
xref: MIM:611553 "phenotype"
[Term]
id: DI-02076
name: Noonan syndrome-like disorder with loose anagen hair 1
def: "A syndrome characterized by Noonan dysmorphic features such as macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck, pectus anomalies, in association with pluckable, sparse, thin and slow-growing hair." []
synonym: "Mazzanti syndrome" [UniProt]
synonym: "NSLH" [UniProt]
synonym: "Tosti syndrome" [UniProt]
xref: MedGen:C1843181
xref: MeSH:D019465
xref: MIM:607721 "phenotype"
[Term]
id: DI-02078
name: Tumoral calcinosis, normophosphatemic, familial
def: "An uncommon, life-threatening disorder characterized by progressive deposition of calcified masses in cutaneous and subcutaneous tissues. Serum phosphate levels are normal. Clinical features include painful calcified ulcerative lesions and massive calcium deposition in the mid- and lower dermis, severe skin and bone infections, erythematous papular skin eruption in infancy, conjunctivitis, and gingivitis. NFTC shows a striking resemblance to acquired dystrophic calcinosis, in which tissue calcification occurs as a consequence of tissue injury/inflammation." []
synonym: "Tumoral calcinosis with normophosphatemia" [UniProt]
xref: MedGen:C1864861
xref: MeSH:D002114
xref: MIM:610455 "phenotype"
[Term]
id: DI-02079
name: Norrie disease
def: "Recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizure." []
synonym: "Atrophia bulborum hereditaria" [UniProt]
synonym: "Episkopi blindness" [UniProt]
xref: MedGen:C0266526
xref: MIM:310600 "phenotype"
[Term]
id: DI-02080
name: North American Indian childhood cirrhosis
def: "Severe autosomal recessive intrahepatic cholestasis, originally described in Ojibway-Cree children from northwestern Quebec. NAIC typically presents with transient neonatal jaundice, in a child who is otherwise healthy, and progresses to biliary cirrhosis and portal hypertension. Biochemical and histopathological features suggest involvement of the bile ducts rather than of the bile canaliculi. They include elevated gamma glutamyltransferase and alkaline phosphatase levels, and, typically, marked fibrosis around bile ducts. Clinically, NAIC is distinct from other nonsyndromic familial cholestases because of its marked cholangiopathic features and severe degree of fibrosis on liver histology." []
xref: MedGen:C1858051
xref: MIM:604901 "phenotype"
[Term]
id: DI-02081
name: Purine nucleoside phosphorylase deficiency
def: "A disorder that interrupts both the catabolism of inosine into hypoxanthine and guanosine into guanine, and leads to the accumulation of guanosine, inosine, and their deoxified by-products. The main clinical presentation is recurrent infections due to severe T-cell immunodeficiency. Some patients also have neurologic impairment." []
synonym: "Immunodeficiency due to purine nucleoside phosphorylase deficiency" [UniProt]
synonym: "Nucleoside phosphorylase deficiency" [UniProt]
xref: MedGen:C0268125
xref: MeSH:D011686
xref: MIM:613179 "phenotype"
[Term]
id: DI-02082
name: Albinism ocular 1
def: "Form of albinism affecting only the eye. Pigment of the hair and skin is normal or only slightly diluted. Eyes may be severely affected with photophobia and reduced visual acuity. Nystagmus or strabismus are often associated. The irides and fundus are depigmented." []
synonym: "Nettleship-Falls type ocular albinism" [UniProt]
synonym: "OA-1" [UniProt]
xref: MedGen:C0342684
xref: MeSH:D016117
xref: MIM:300500 "phenotype"
[Term]
id: DI-02083
name: Microphthalmia/coloboma 12
def: "A form of colobomatous microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like coloboma, opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). MCOPCB12 is an autosomal dominant form characterized by inter- and intrafamilial variability. Some patients also exhibit neurodevelopmental anomalies." []
synonym: "COAD" [UniProt]
synonym: "COI" [UniProt]
synonym: "Coloboma of iris, choroid, and retina" [UniProt]
synonym: "Coloboma, ocular, autosomal dominant" [UniProt]
synonym: "Ocular coloboma" [UniProt]
synonym: "Uveoretinal coloboma" [UniProt]
xref: MedGen:C0009363
xref: MeSH:D003103
xref: MIM:120200 "phenotype"
[Term]
id: DI-02084
name: Oculoauricular syndrome
def: "A syndrome characterized by microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear." []
synonym: "Schorderet-Munier-Franceschetti syndrome" [UniProt]
xref: MedGen:C2677500
xref: MeSH:D005124
xref: MIM:612109 "phenotype"
[Term]
id: DI-02085
name: Albinism, oculocutaneous, 2
def: "An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have complete absence of melanin pigment, most patients acquire small amounts of pigment with age. Visual anomalies include decreased acuity and nystagmus. The phenotype is highly variable. The hair of affected individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, 'brown OCA,' has been described in African and African American populations and is characterized by light brown hair and skin color and gray to tan irides." []
synonym: "Albinism II" [UniProt]
synonym: "BOCA" [UniProt]
synonym: "Brown oculocutaneous albinism" [UniProt]
synonym: "OCA-2" [UniProt]
synonym: "Oculocutaneous albinism type II" [UniProt]
synonym: "Oculocutaneous albinism tyrosinase-positive" [UniProt]
xref: MedGen:C0268495
xref: MedGen:C0268497
xref: MeSH:D016115
xref: MIM:203200 "phenotype"
[Term]
id: DI-02086
name: Albinism, oculocutaneous, 4
def: "A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus." []
synonym: "Oculocutaneous albinism type IV" [UniProt]
xref: MedGen:C1847836
xref: MeSH:D016115
xref: MIM:606574 "phenotype"
[Term]
id: DI-02088
name: Albinism, oculocutaneous, 1A
def: "An autosomal recessive disorder in which the biosynthesis of melanin pigment is absent in skin, hair, and eyes. It is characterized by complete lack of tyrosinase activity due to production of an inactive enzyme. Patients present with a life-long absence of melanin pigment after birth, and manifest increased sensitivity to ultraviolet radiation with predisposition to skin cancer. Visual anomalies include decreased acuity, nystagmus, strabismus and photophobia." []
synonym: "Albinism I" [UniProt]
synonym: "Albinism oculocutaneous IA" [UniProt]
synonym: "ATN" [UniProt]
synonym: "OCA-1A" [UniProt]
synonym: "OCA-IA" [UniProt]
synonym: "Oculocutaneous albinism tyrosinase negative" [UniProt]
xref: MedGen:C0268494
xref: MeSH:D016115
xref: MIM:203100 "phenotype"
[Term]
id: DI-02089
name: Albinism, oculocutaneous, 1B
def: "An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. It is characterized by partial lack of tyrosinase activity. Patients have white hair at birth that rapidly turns yellow or blond. They manifest the development of minimal-to-moderate amounts of cutaneous and ocular pigment. Some patients may have with white hair in the warmer areas (scalp and axilla) and progressively darker hair in the cooler areas (extremities). This variant phenotype is due to a loss of tyrosinase activity above 35-37 degrees C." []
synonym: "Albinism yellow mutant type" [UniProt]
synonym: "OCA-IB" [UniProt]
synonym: "OCA-ITS" [UniProt]
synonym: "Oculocutaneous albinism type I temperature-sensitive" [UniProt]
synonym: "Oculocutaneous albinism type IB" [UniProt]
synonym: "Yellow albinism" [UniProt]
xref: MedGen:C1847024
xref: MedGen:C1847132
xref: MeSH:D016115
xref: MIM:606952 "phenotype"
[Term]
id: DI-02090
name: Albinism, oculocutaneous, 3
def: "An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Tyrosinase activity is normal and patients have only moderate reduction of pigment. The eyes present red reflex on transillumination of the iris, dilution of color of iris, nystagmus and strabismus. Darker-skinned individuals have bright copper-red coloration of the skin and hair." []
synonym: "Albinism III" [UniProt]
synonym: "OCA-III" [UniProt]
synonym: "Oculocutaneous albinism type III" [UniProt]
synonym: "ROCA" [UniProt]
synonym: "Rufous oculocutaneous albinism" [UniProt]
synonym: "Xanthism" [UniProt]
xref: MedGen:C0342683
xref: MedGen:C1859932
xref: MeSH:D016115
xref: MIM:203290 "phenotype"
[Term]
id: DI-02091
name: Tooth agenesis, selective, 3
def: "A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth)." []
synonym: "HYD3" [UniProt]
synonym: "Hypodontia/oligodontia 3" [UniProt]
synonym: "Selective tooth agenesis 3" [UniProt]
xref: MedGen:C1970291
xref: MeSH:D000848
xref: MIM:604625 "phenotype"
[Term]
id: DI-02092
name: Oligodontia-colorectal cancer syndrome
def: "Affected individuals manifest severe tooth agenesis and colorectal cancer or precancerous lesions of variable types." []
xref: MedGen:C1837750
xref: MIM:608615 "phenotype"
[Term]
id: DI-02093
name: Omenn syndrome
def: "Severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T-cells, hypereosinophilia, and high IgE levels." []
xref: MedGen:C1801959
xref: MedGen:C2931884
xref: MIM:603554 "phenotype"
[Term]
id: DI-02094
name: Opitz GBBB syndrome
def: "A congenital midline malformation syndrome characterized by hypertelorism, genital-urinary defects such as hypospadias in males and splayed labia in females, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay and congenital heart defects." []
synonym: "BBBG1" [UniProt]
synonym: "GGGB1" [UniProt]
synonym: "Hypertelorism with esophageal abnormality and hypospadias" [UniProt]
synonym: "Hypertelorism-hypospadias syndrome" [UniProt]
synonym: "Opitz BBBG syndrome type I" [UniProt]
synonym: "Opitz GBBB syndrome type I" [UniProt]
synonym: "Opitz GBBB syndrome X-linked" [UniProt]
synonym: "Opitz syndrome" [UniProt]
synonym: "Opitz syndrome X-linked" [UniProt]
synonym: "Opitz-G syndrome type I" [UniProt]
synonym: "OS" [UniProt]
synonym: "OSX" [UniProt]
synonym: "Telecanthus-hypospadias syndrome" [UniProt]
xref: MedGen:C0175696
xref: MedGen:C2936904
xref: MeSH:D006972
xref: MeSH:D007021
xref: MIM:300000 "phenotype"
[Term]
id: DI-02095
name: Opitz-Kaveggia syndrome
def: "X-linked disorder characterized by intellectual disability, relative macrocephaly, hypotonia and constipation." []
synonym: "FG syndrome" [UniProt]
synonym: "FG syndrome type 1" [UniProt]
synonym: "FGS" [UniProt]
synonym: "FGS1" [UniProt]
xref: MedGen:C0220769
xref: MIM:305450 "phenotype"
[Term]
id: DI-02096
name: Dominant optic atrophy plus syndrome
def: "A neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes." []
synonym: "Optic atrophy with or without deafness ophthalmoplegia myopathy ataxia and neuropathy" [UniProt]
xref: MedGen:C1852267
xref: MedGen:C3276549
xref: MeSH:D002493
xref: MeSH:D029241
xref: MIM:125250 "phenotype"
[Term]
id: DI-02097
name: Optic atrophy 1
def: "A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA1 is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disk pallor, color vision deficits, and centrocecal scotoma of variable density." []
synonym: "Kjer-type optic atrophy" [UniProt]
synonym: "OAK" [UniProt]
synonym: "Optic atrophy juvenile" [UniProt]
synonym: "Optic atrophy Kjer type" [UniProt]
xref: MedGen:C0338508
xref: MeSH:D029241
xref: MIM:165500 "phenotype"
[Term]
id: DI-02098
name: Optic atrophy 3
def: "A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA3 is associated with cataract and a neurologic disorder characterized by extrapyramidal signs and ataxia." []
synonym: "ADOAC" [UniProt]
synonym: "Autosomal dominant optic atrophy and cataract" [UniProt]
synonym: "Optic atrophy 3 autosomal dominant" [UniProt]
xref: MedGen:C1833809
xref: MeSH:D015418
xref: MIM:165300 "phenotype"
[Term]
id: DI-02099
name: Orofaciodigital syndrome 1
def: "A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD1 is X-linked dominant syndrome, lethal in males. Craniofacial findings consist of facial asymmetry, hypertelorism, median cleft, or pseudocleft of the upper lip, hypoplasia of the alae nasi, oral clefts and abnormal frenulea, tongue anomalies (clefting, cysts, hamartoma), and anomalous dentition involving missing or extra teeth. Asymmetric brachydactyly and/or syndactyly of the fingers and toes occur frequently. Approximately 50% of OFD1 females have some degree of intellectual disability. Some patients have structural central nervous system anomalies such as agenesis of the corpus callosum, cerebellar agenesis, or a Dandy- Walker malformation. Patients with OFD1 can develop fibrocystic disease of the liver and pancreas, in addition to polycystic kidneys." []
synonym: "OFDS I" [UniProt]
synonym: "Oral-facial-digital syndrome 1" [UniProt]
synonym: "Oral-facial-digital syndrome, type I" [UniProt]
synonym: "Orofaciodigital syndrome I" [UniProt]
synonym: "Papillon-Leage and Psaume syndrome" [UniProt]
xref: MedGen:C1510460
xref: MeSH:D009958
xref: MIM:311200 "phenotype"
[Term]
id: DI-02100
name: Orthostatic intolerance
def: "An autosomal dominant disorder characterized by lightheadedness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. Plasma norepinephrine concentration is abnormally high." []
synonym: "Irritable heart" [UniProt]
synonym: "Mitral valve prolapse syndrome" [UniProt]
synonym: "Neurocirculatory asthenia" [UniProt]
synonym: "Postural orthostatic tachycardia syndrome" [UniProt]
synonym: "Postural tachycardia syndrome" [UniProt]
synonym: "POTS" [UniProt]
synonym: "Soldiers heart" [UniProt]
xref: MedGen:C0026267
xref: MedGen:C2930833
xref: MeSH:D054972
xref: MIM:604715 "phenotype"
[Term]
id: DI-02101
name: Osteoarthritis with mild chondrodysplasia
def: "Osteoarthritis is a common disease that produces joint pain and stiffness together with radiologic evidence of progressive degeneration of joint cartilage." []
synonym: "Namaqualand hip dysplasia" [UniProt]
synonym: "NHD" [UniProt]
xref: MedGen:C1858079
xref: MeSH:D010003
xref: MeSH:D010009
xref: MIM:604864 "phenotype"
[Term]
id: DI-02103
name: Osteogenesis imperfecta 4
def: "An autosomal dominant form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI4 is characterized by moderately short stature, mild to moderate scoliosis, grayish or white sclera and dentinogenesis imperfecta." []
synonym: "OI, type IV" [UniProt]
synonym: "OI-IV" [UniProt]
synonym: "Osteogenesis imperfecta type IV" [UniProt]
synonym: "Osteogenesis imperfecta with normal sclerae" [UniProt]
xref: MedGen:C0268363
xref: MeSH:D010013
xref: MIM:166220 "phenotype"
[Term]
id: DI-02104
name: Osteogenesis imperfecta 7
def: "A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI7 is an autosomal recessive, severe form. Multiple fractures are present at birth and patients have short stature, short humeri and femora, coxa vara, and white sclera. Dentinogenesis imperfecta is absent. Death can occur in the perinatal period due to secondary respiratory insufficiency." []
synonym: "OI type IIB" [UniProt]
synonym: "OI type VII" [UniProt]
synonym: "OI-IIB" [UniProt]
synonym: "OI-VII" [UniProt]
synonym: "OI2B" [UniProt]
synonym: "Osteogenesis imperfecta perinatal lethal autosomal recessive" [UniProt]
synonym: "Osteogenesis imperfecta type II autosomal recessive" [UniProt]
synonym: "Osteogenesis imperfecta type IIB" [UniProt]
synonym: "Osteogenesis imperfecta type VII" [UniProt]
xref: MedGen:C1853162
xref: MeSH:D010013
xref: MIM:610682 "phenotype"
[Term]
id: DI-02105
name: Osteogenesis imperfecta 8
def: "A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI8 is characterized by disproportionate short stature, shortening of the long bones, white sclerae, a round face and a short barrel-shaped chest." []
synonym: "OI type VIII" [UniProt]
synonym: "OI-VIII" [UniProt]
synonym: "Osteogenesis imperfecta type VIII" [UniProt]
xref: MedGen:C1970458
xref: MeSH:D010013
xref: MIM:610915 "phenotype"
[Term]
id: DI-02106
name: Osteogenesis imperfecta 1
def: "An autosomal dominant form of osteogenesis imperfecta, a disorder of bone formation characterized by bone low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI1 is a non-deforming form with normal height or mild short stature, and no dentinogenesis imperfecta." []
synonym: "OI, type I" [UniProt]
synonym: "OI-I" [UniProt]
synonym: "Osteogenesis imperfecta tarda" [UniProt]
synonym: "Osteogenesis imperfecta type I" [UniProt]
synonym: "Osteogenesis imperfecta with blue sclerae" [UniProt]
synonym: "Osteopenic non-fracture syndrome" [UniProt]
xref: MedGen:C0023931
xref: MedGen:C2674706
xref: MeSH:D010013
xref: MIM:166200 "phenotype"
[Term]
id: DI-02107
name: Osteogenesis imperfecta 2
def: "An autosomal dominant form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI2 is characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency." []
synonym: "OI type IIA" [UniProt]
synonym: "OI, type II" [UniProt]
synonym: "OI-II" [UniProt]
synonym: "OI-IIA" [UniProt]
synonym: "OIC" [UniProt]
synonym: "Osteogenesis imperfecta congenita" [UniProt]
synonym: "Osteogenesis imperfecta congenita perinatal lethal form" [UniProt]
synonym: "Osteogenesis imperfecta type II autosomal dominant" [UniProt]
synonym: "Osteogenesis imperfecta type IIA" [UniProt]
synonym: "Vrolik type of osteogenesis imperfecta" [UniProt]
xref: MedGen:C0268358
xref: MedGen:C0268360
xref: MeSH:D010013
xref: MIM:166210 "phenotype"
[Term]
id: DI-02108
name: Osteogenesis imperfecta 3
def: "An autosomal dominant form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI3 is characterized by progressively deforming bones, very short stature, a triangular face, severe scoliosis, grayish sclera and dentinogenesis imperfecta." []
synonym: "OI, type III" [UniProt]
synonym: "OI-III" [UniProt]
synonym: "Osteogenesis imperfecta type III" [UniProt]
synonym: "Progressively deforming osteogenesis imperfecta with normal sclerae" [UniProt]
xref: MedGen:C0268362
xref: MeSH:D010013
xref: MIM:259420 "phenotype"
[Term]
id: DI-02109
name: Osteogenic sarcoma
def: "A sarcoma originating in bone-forming cells, affecting the ends of long bones." []
synonym: "Osteosarcoma" [UniProt]
xref: MedGen:C0029463
xref: MeSH:D012516
xref: MIM:259500 "phenotype"
[Term]
id: DI-02110
name: Osteoglophonic dysplasia
def: "Characterized by craniosynostosis, prominent supraorbital ridge, and depressed nasal bridge, as well as by rhizomelic dwarfism and nonossifying bone lesions. Inheritance is autosomal dominant." []
synonym: "Osteoglophonic dwarfism" [UniProt]
xref: MedGen:C0432283
xref: MIM:166250 "phenotype"
[Term]
id: DI-02111
name: Osteoporosis-pseudoglioma syndrome
def: "A disease characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures. Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, intellectual disability and hypotonia." []
synonym: "OPS" [UniProt]
synonym: "Osteogenesis imperfecta ocular form" [UniProt]
xref: MedGen:C0432252
xref: MeSH:D010013
xref: MIM:259770 "phenotype"
[Term]
id: DI-02112
name: Otofaciocervical syndrome 1
def: "A disorder characterized by facial dysmorphism, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability." []
synonym: "OFC" [UniProt]
synonym: "OFC1" [UniProt]
synonym: "OTFCS" [UniProt]
synonym: "Oto-facio-cervical syndrome" [UniProt]
xref: MedGen:C1833691
xref: MeSH:D000015
xref: MIM:166780 "phenotype"
[Term]
id: DI-02113
name: Otopalatodigital syndrome 1
def: "X-linked dominant multiple congenital anomalies disease mainly characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, cleft palate, and typical facial anomalies. OPD1 belongs to a group of X-linked skeletal dysplasias known as oto- palato-digital syndrome spectrum disorders that also include OPD2, Melnick-Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. FLNA is a widely expressed protein that regulates re-organization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes and second messengers. Males with OPD1 have cleft palate, malformations of the ossicles causing deafness and milder bone and limb defects than those associated with OPD2. Obligate female carriers of mutations causing both OPD1 and OPD2 have variable (often milder) expression of a similar phenotypic spectrum." []
xref: MedGen:C0265251
xref: MedGen:C2748918
xref: MedGen:C2748919
xref: MIM:311300 "phenotype"
[Term]
id: DI-02114
name: Otopalatodigital syndrome 2
def: "Congenital bone disorder that is characterized by abnormally modeled, bowed bones, small or absent first digits and, more variably, cleft palate, posterior fossa brain anomalies, omphalocele and cardiac defects." []
synonym: "Cranioorodigital syndrome" [UniProt]
xref: MedGen:C1844696
xref: MIM:304120 "phenotype"
[Term]
id: DI-02115
name: Ovarian dysgenesis 1
def: "An autosomal recessive disease characterized by primary amenorrhea, variable development of secondary sex characteristics, poorly developed streak ovaries, and high serum levels of follicle- stimulating hormone (FSH) and luteinizing hormone (LH)." []
synonym: "Gonadal dysgenesis XX type" [UniProt]
synonym: "Hypergonadotropic ovarian dysgenesis autosomal recessive" [UniProt]
synonym: "Hypergonadotropic ovarian dysgenesis with normal karyotype" [UniProt]
synonym: "Hypergonadotropic ovarian failure" [UniProt]
synonym: "XX gonadal dysgenesis" [UniProt]
synonym: "XXGD" [UniProt]
xref: MedGen:C0949595
xref: MedGen:CN074196
xref: MeSH:D023961
xref: MIM:233300 "phenotype"
[Term]
id: DI-02116
name: Ovarian dysgenesis 2
def: "A disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads." []
synonym: "Ovarian failure hypergonadotropic due to ovarian dysgenesis" [UniProt]
synonym: "X-linked hypergonadotropic ovarian dysgenesis" [UniProt]
xref: MedGen:C1845294
xref: MeSH:D023961
xref: MIM:300510 "phenotype"
[Term]
id: DI-02117
name: Ovarian hyperstimulation syndrome
def: "Disorder which occurs either spontaneously or most often as an iatrogenic complication of ovarian stimulation treatments for in vitro fertilization. The clinical manifestations vary from abdominal distention and discomfort to potentially life-threatening, massive ovarian enlargement and capillary leak with fluid sequestration. Pathologic features of this syndrome include the presence of multiple serous and hemorrhagic follicular cysts lined by luteinized cells, a condition called hyperreactio luteinalis." []
xref: MedGen:C0085083
xref: MIM:608115 "phenotype"
[Term]
id: DI-02118
name: P5N deficiency
def: "Autosomal recessive condition causing hemolytic anemia characterized by marked basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. It is implicated in the anemia of lead poisoning and is possibly associated with learning difficulties." []
synonym: "Hemolytic anemia due to P5N deficiency" [UniProt]
synonym: "Hemolytic anemia due to UMPH1 deficiency" [UniProt]
xref: MedGen:C1849507
xref: MIM:266120 "phenotype"
[Term]
id: DI-02120
name: Paget disease of bone 2, early-onset
def: "A form of Paget disease, a disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone." []
xref: MedGen:C0029401
xref: MeSH:D010001
xref: MIM:602080 "phenotype"
[Term]
id: DI-02122
name: Pallister-Hall syndrome
def: "An autosomal dominant disorder characterized by a wide range of clinical manifestations. Clinical features include hypothalamic hamartoma, pituitary dysfunction, central or postaxial polydactyly, and syndactyly. Malformations are frequent in the viscera, e.g. anal atresia, bifid uvula, congenital heart malformations, pulmonary or renal dysplasia." []
synonym: "Hypothalamic hamartoblastoma hypopituitarism imperforate anus and postaxial polydactyly" [UniProt]
xref: MedGen:C0265220
xref: MeSH:D054975
xref: MIM:146510 "phenotype"
[Term]
id: DI-02123
name: Pancreatic agenesis 1
def: "A disease characterized by isolated hypoplasia or agenesis of the pancreas, pancreatic beta-cell failure resulting in neonatal insulin- dependent diabetes mellitus, and exocrine pancreatic insufficiency." []
synonym: "Congenital pancreatic hypoplasia" [UniProt]
synonym: "PAGEN" [UniProt]
xref: MedGen:C1850096
xref: MeSH:D010182
xref: MIM:260370 "phenotype"
[Term]
id: DI-02124
name: Pancreatic cancer
def: "A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue." []
synonym: "Pancreatic acinar carcinoma" [UniProt]
synonym: "Pancreatic carcinoma" [UniProt]
xref: MedGen:C0235974
xref: MeSH:D010190
xref: MIM:260350 "phenotype"
[Term]
id: DI-02125
name: Panhypopituitarism X-linked
def: "Affected individuals have absent infundibulum, anterior pituitary hypoplasia, and ectopic posterior pituitary." []
xref: MedGen:C0342376
xref: MIM:312000 "phenotype"
[Term]
id: DI-02126
name: Neurodegeneration with brain iron accumulation 1
def: "Autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. Clinical manifestations include progressive muscle spasticity, hyperreflexia, muscle rigidity, dystonia, dysarthria, and intellectual deterioration which progresses to severe dementia over several years. It is clinically classified into classic, atypical, and intermediate phenotypes. Classic forms present with onset in first decade, rapid progression, loss of independent ambulation within 15 years. Atypical forms have onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later. Intermediate forms manifest onset in first decade with slow progression or onset in second decade with rapid progression. Patients with early onset tend to also develop pigmentary retinopathy, whereas those with later onset tend to also have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI." []
synonym: "Hallervorden-Spatz syndrome" [UniProt]
synonym: "HARP" [UniProt]
synonym: "HSS" [UniProt]
synonym: "Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration" [UniProt]
synonym: "Pantothenate kinase-associated neurodegeneration" [UniProt]
synonym: "PKAN" [UniProt]
synonym: "PKAN neuroaxonal dystrophy juvenile-onset" [UniProt]
xref: MedGen:C0018523
xref: MeSH:D006211
xref: MIM:234200 "phenotype"
[Term]
id: DI-02127
name: PAPA syndrome
def: "Characterized by autosomal dominant inheritance of early-onset, primarily affecting skin and joint tissues. Recurring inflammatory episodes lead to accumulation of sterile, pyogenic, neutrophil-rich material within the affected joints, ultimately resulting in significant destruction." []
synonym: "Familial recurrent arthritis" [UniProt]
synonym: "FRA" [UniProt]
synonym: "Pyogenic sterile arthritis, pyoderma gangrenosum and acne" [UniProt]
xref: MedGen:C1858361
xref: MIM:604416 "phenotype"
[Term]
id: DI-02128
name: Paraganglioma and gastric stromal sarcoma
def: "Gastrointestinal stromal tumors may be sporadic or inherited in an autosomal dominant manner, alone or as a component of a syndrome associated with other tumors, such as in the context of neurofibromatosis type 1 (NF1). Patients have both gastrointestinal stromal tumors and paragangliomas. Susceptibility to the tumors was inherited in an apparently autosomal dominant manner, with incomplete penetrance." []
synonym: "Carney-Stratakis syndrome" [UniProt]
synonym: "Paraganglioma and gastrointestinal stromal tumor" [UniProt]
xref: MedGen:C1847319
xref: MIM:606864 "phenotype"
[Term]
id: DI-02129
name: Parathyroid carcinoma
def: "These cancers characteristically result in more profound clinical manifestations of hyperparathyroidism than do parathyroid adenomas, the most frequent cause of primary hyperparathyroidism. Early en bloc resection of the primary tumor is the only curative treatment." []
xref: MedGen:C0687150
xref: MIM:608266 "phenotype"
[Term]
id: DI-02130
name: Parietal foramina 1
def: "Autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month." []
synonym: "Catlin marks" [UniProt]
synonym: "Cranium bifidum occultum" [UniProt]
synonym: "Cranium bifidum, hereditary" [UniProt]
synonym: "Enlarged parietal foramina" [UniProt]
synonym: "Foramina parietalia permagna" [UniProt]
synonym: "FPP" [UniProt]
synonym: "Parietal foramina, symmetric" [UniProt]
synonym: "PFM" [UniProt]
xref: MedGen:C1868598
xref: MedGen:C1868599
xref: MeSH:D004677
xref: MIM:168500 "phenotype"
[Term]
id: DI-02131
name: Parietal foramina 2
def: "Autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month. PFM2 is also a clinical feature of Potocki-Shaffer syndrome." []
synonym: "Foramina parietalia permagna" [UniProt]
synonym: "FPP" [UniProt]
xref: MedGen:C1865044
xref: MIM:609597 "phenotype"
[Term]
id: DI-02132
name: Parietal foramina with cleidocranial dysplasia
def: "Combines skull defects in the form of enlarged parietal foramina and deficient ossification of the clavicles." []
synonym: "Cleidocranial dysplasia with parietal foramina" [UniProt]
xref: MedGen:C1868597
xref: MIM:168550 "phenotype"
[Term]
id: DI-02134
name: Parkinson disease
def: "A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features." []
synonym: "Idiopathic Parkinson disease" [UniProt]
synonym: "Late onset Parkinson disease" [UniProt]
synonym: "Lewy body Parkinson disease" [UniProt]
synonym: "Paralysis Agitans" [UniProt]
synonym: "PD" [UniProt]
synonym: "Primary Parkinsonism" [UniProt]
xref: MedGen:C0030567
xref: MedGen:C3160718
xref: MeSH:D010300
xref: MIM:168600 "phenotype"
[Term]
id: DI-02135
name: Parkinson disease 4, autosomal dominant
def: "A complex neurodegenerative disorder with manifestations ranging from typical Parkinson disease to dementia with Lewy bodies. Clinical features include parkinsonian symptoms (resting tremor, rigidity, postural instability and bradykinesia), dementia, diffuse Lewy body pathology, autonomic dysfunction, hallucinations and paranoia." []
synonym: "Parkinson disease 4 autosomal dominant Lewy body" [UniProt]
synonym: "Parkinson disease autosomal dominant 4" [UniProt]
synonym: "Parkinson disease familial type 4" [UniProt]
xref: MedGen:C1854182
xref: MeSH:D010300
xref: MIM:605543 "phenotype"
[Term]
id: DI-02136
name: Parkinson disease 8
def: "A slowly progressive neurodegenerative disorder characterized by bradykinesia, rigidity, resting tremor, postural instability, neuronal loss in the substantia nigra, and the presence of neurofibrillary MAPT (tau)-positive and Lewy bodies in some patients." []
xref: MedGen:C1846862
xref: MeSH:D010300
xref: MIM:607060 "phenotype"
[Term]
id: DI-02137
name: Parkinson disease 11
def: "A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain." []
synonym: "Parkinson disease 11, autosomal dominant, susceptibility to" [UniProt]
xref: MedGen:C1843211
xref: MeSH:D010300
xref: MIM:607688 "phenotype"
[Term]
id: DI-02138
name: Parkinson disease 13
def: "A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain." []
xref: MedGen:C1853202
xref: MeSH:D010300
xref: MIM:610297 "phenotype"
[Term]
id: DI-02139
name: Parkinson disease 15
def: "A neurodegenerative disorder characterized by parkinsonian and pyramidal signs. Clinical manifestations include tremor, bradykinesia, rigidity, postural instability, spasticity, mainly in the lower limbs, and hyperreflexia." []
synonym: "Pallido-pyramidal syndrome" [UniProt]
synonym: "Pallidopyramidal syndrome" [UniProt]
synonym: "Parkinson disease 15 autosomal recessive" [UniProt]
synonym: "Parkinsonian-pyramidal syndrome" [UniProt]
synonym: "PKPS" [UniProt]
synonym: "PPS" [UniProt]
xref: MedGen:C1850100
xref: MeSH:D020734
xref: MIM:260300 "phenotype"
[Term]
id: DI-02140
name: Paroxysmal extreme pain disorder
def: "An autosomal dominant paroxysmal disorder of pain and autonomic dysfunction. The distinctive features are paroxysmal episodes of burning pain in the rectal, ocular, and mandibular areas accompanied by autonomic manifestations such as skin flushing." []
synonym: "Familial rectal pain" [UniProt]
synonym: "FRP" [UniProt]
synonym: "Pain, submandibular, ocular, and rectal, with flushing" [UniProt]
synonym: "PEPD" [UniProt]
xref: MedGen:C1833661
xref: MeSH:D010146
xref: MIM:167400 "phenotype"
[Term]
id: DI-02141
name: Paroxysmal nocturnal hemoglobinuria 1
def: "A disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning." []
xref: MedGen:C0024790
xref: MedGen:C3806670
xref: MeSH:D006457
xref: MIM:300818 "phenotype"
[Term]
id: DI-02142
name: Partial acquired lipodystrophy
def: "A rare childhood disease characterized by loss of subcutaneous fat from the face and trunk. Fat deposition on the pelvic girdle and lower limbs is normal or excessive. Most frequently, onset between 5 and 15 years of age. Most affected subjects are females and some show no other abnormality, but many develop glomerulonephritis, diabetes mellitus, hyperlipidemia, and complement deficiency. Intellectual disability in some cases. APLD is a sporadic disorder of unknown etiology." []
synonym: "APL" [UniProt]
synonym: "Barraquer-Simons syndrome" [UniProt]
synonym: "Cephalothoracic type lipodystrophy" [UniProt]
synonym: "Partial progressive lipodystrophy" [UniProt]
xref: MedGen:C0220989
xref: MIM:608709 "phenotype"
[Term]
id: DI-02143
name: Agenesis of the corpus callosum, X-linked, partial
def: "A syndrome characterized by partial corpus callosum agenesis, hypoplasia of inferior vermis and cerebellum, intellectual disability, seizures and spasticity. Other features include microcephaly, unusual facies, and Hirschsprung disease in some patients." []
xref: MedGen:C1839909
xref: MeSH:D055673
xref: MIM:304100 "phenotype"
[Term]
id: DI-02144
name: Colorblindness, partial, deutan series
def: "A color vision defect characterized by a dichromasy in which red and green are confused, without loss of luminance or shift or shortening of the spectrum. Dichromasy is due to the use of only two types of photoreceptors, blue plus red in deuteranopia and blue plus green in protanopia." []
synonym: "DCB" [UniProt]
synonym: "Deutan colorblindness" [UniProt]
synonym: "Deuteranopia" [UniProt]
synonym: "Green colorblindness" [UniProt]
xref: MedGen:C0155016
xref: MeSH:D003117
xref: MIM:303800 "phenotype"
[Term]
id: DI-02145
name: Colorblindness, partial, protan series
def: "A color vision defect characterized by a dichromasy in which red and green are confused, with loss of luminance and shift of brightness and hue curves toward the short wave end of the spectrum. Dichromasy is due to the use of only two types of photoreceptors, blue plus red in deuteranopia and blue plus green in protanopia." []
synonym: "Protanopia" [UniProt]
synonym: "Red colorblindness" [UniProt]
xref: MedGen:C0155015
xref: MeSH:D003117
xref: MIM:303900 "phenotype"
[Term]
id: DI-02146
name: 46,XY gonadal dysgenesis with minifascicular neuropathy
def: "An autosomal recessive disorder characterized by gonadal dysgenesis associated with polyneuropathy. Genital anomalies include the presence of a testis on one side and a streak or an absent gonad at the other, persistence of Muellerian duct structures, and a variable degree of genital ambiguity." []
xref: MedGen:C2751325
xref: MeSH:D006061
xref: MIM:607080 "phenotype"
[Term]
id: DI-02147
name: Partington syndrome
def: "An X-linked developmental disorder characterized by intellectual disability, episodic dystonic hand movements, lower limb spasticity, and dysarthria." []
synonym: "Intellectual developmental disorder, X-linked, syndromic 1" [UniProt]
synonym: "MRX36" [UniProt]
synonym: "MRXS1" [UniProt]
xref: MedGen:C0796250
xref: MeSH:D038901
xref: MIM:309510 "phenotype"
[Term]
id: DI-02148
name: Peeling skin syndrome 2
def: "A non-inflammatory and localized form of peeling skin syndrome, a genodermatosis characterized by the continuous shedding of the outer layers of the epidermis. In PSS2 patients, skin peeling is painless and strictly limited to the dorsa of the hands and feet. It is accompanied by painless erythema and spontaneous non-scarring healing. Ultrastructural and histological analysis shows a level of blistering high in the epidermis at the stratum granulosum-stratum corneum junction." []
synonym: "Acral peeling skin syndrome" [UniProt]
synonym: "APSS" [UniProt]
synonym: "Peeling skin syndrome type A" [UniProt]
synonym: "Peeling skin syndrome, acral type" [UniProt]
xref: MedGen:C1853354
xref: MeSH:D003873
xref: MIM:609796 "phenotype"
[Term]
id: DI-02149
name: Pelger-Huet anomaly
def: "An autosomal dominant inherited abnormality of granulocytes, characterized by abnormal ovoid shape, reduced nuclear segmentation and an apparently looser chromatin structure." []
xref: MedGen:C0030779
xref: MeSH:D010381
xref: MIM:169400 "phenotype"
[Term]
id: DI-02151
name: Gaucher disease perinatal lethal
def: "Distinct form of Gaucher disease type 2, characterized by fetal onset. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurologic involvement begins in the first week and leads to death within 3 months. Hepatosplenomegaly is a major sign, and is associated with ichthyosis, arthrogryposis, and facial dysmorphism." []
xref: MedGen:C1842704
xref: MIM:608013 "phenotype"
[Term]
id: DI-02152
name: Diabetes mellitus, permanent neonatal, 1
def: "An autosomal recessive form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive." []
synonym: "DEND" [UniProt]
synonym: "Developmental delay epilepsy and neonatal diabetes" [UniProt]
synonym: "Diabetes mellitus permanent neonatal with neurologic features" [UniProt]
synonym: "PDMI" [UniProt]
synonym: "Permanent diabetes mellitus of infancy" [UniProt]
xref: MedGen:C1833102
xref: MedGen:C1833104
xref: MedGen:C1853564
xref: MeSH:D003920
xref: MIM:606176 "phenotype"
[Term]
id: DI-02153
name: Peroxisome biogenesis disorder complementation group 13
def: "A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS)." []
synonym: "CG13" [UniProt]
synonym: "PBD-CGH" [UniProt]
synonym: "Peroxisome biogenesis disorder complementation group H" [UniProt]
xref: MedGen:C1866259
xref: MedGen:C1866260
xref: MeSH:D018901
xref: MIM:614883 "phenotype"
[Term]
id: DI-02154
name: Peroxisome biogenesis disorder complementation group K
def: "A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS)." []
xref: MedGen:C1866257
xref: MeSH:D018901
xref: MIM:614887 "phenotype"
[Term]
id: DI-02155
name: Persistent Muellerian duct syndrome 1
def: "A form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males." []
synonym: "Persistent Muellerian duct syndrome type I" [UniProt]
synonym: "PMDS-1" [UniProt]
xref: MedGen:C1849930
xref: MIM:261550 "phenotype"
[Term]
id: DI-02156
name: Persistent Muellerian duct syndrome 2
def: "A form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males." []
synonym: "Persistent Muellerian duct syndrome type II" [UniProt]
synonym: "PMDS-2" [UniProt]
xref: MedGen:C1849930
xref: MIM:261550 "phenotype"
[Term]
id: DI-02157
name: Anterior segment dysgenesis 5
def: "A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis." []
xref: MedGen:C0344559
xref: MeSH:D005124
xref: MIM:604229 "phenotype"
[Term]
id: DI-02158
name: Peters-plus syndrome
def: "An autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, developmental delay, characteristic craniofacial features, cleft lip and/or palate." []
synonym: "Krause-Kivlin syndrome" [UniProt]
synonym: "Peters anomaly with short-limb dwarfism" [UniProt]
xref: MedGen:C0796012
xref: MeSH:D002971
xref: MeSH:D006130
xref: MeSH:D017880
xref: MIM:261540 "phenotype"
[Term]
id: DI-02159
name: Phenylalanine hydroxylase deficiency
def: "An autosomal recessive inborn error of phenylalanine metabolism characterized by intolerance to dietary intake of the essential amino acid phenylalanine. The disease spectrum depends on the degree of PAH deficiency and the phenylalanine levels in plasma. Severe deficiency causes classic phenylketonuria (PKU) that is characterized by plasma concentrations of phenylalanine persistently above 1200 umol/L. PKU patients develop profound and irreversible intellectual disability, unless low phenylalanine diet is introduced early in life. They tend to have light pigmentation, rashes similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy' odor. Less severe forms of PAH deficiency are characterized by phenylalanine levels above normal (120 umol/L) but below 1200 umol/L and include moderate PKU, mild PKU, non-PKU hyperphenylalaninemia (non-PKU HPA) and mild hyperphenylalaninemia. Individuals with PAH deficiency who have plasma phenylalanine concentrations consistently below 600 umol/L on an unrestricted diet are not at higher risk of developing intellectual, neurologic, and neuropsychological impairment than are individuals without PAH deficiency." []
synonym: "Folling disease" [UniProt]
synonym: "HPA, non-PKU mild" [UniProt]
synonym: "Hyperphenylalaninemia, non-PKU mild" [UniProt]
synonym: "Oligophrenia phenylpyruvica" [UniProt]
synonym: "Phenylketonuria" [UniProt]
synonym: "Phenylketonuria, maternal" [UniProt]
synonym: "PKU" [UniProt]
xref: MedGen:C0031485
xref: MedGen:C0085547
xref: MedGen:C0751434
xref: MedGen:C2678416
xref: MeSH:D010661
xref: MIM:261600 "phenotype"
[Term]
id: DI-02160
name: Pheochromocytoma
def: "A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent." []
synonym: "Chromaffin cell tumor" [UniProt]
synonym: "Medullary chromaffinoma" [UniProt]
synonym: "Medullary paraganglioma" [UniProt]
synonym: "Pheochromoblastoma" [UniProt]
xref: MedGen:C0031511
xref: MedGen:C3149711
xref: MeSH:D010673
xref: MIM:171300 "phenotype"
[Term]
id: DI-02161
name: Phosphoglycerate dehydrogenase deficiency
def: "An autosomal recessive inborn error of L-serine biosynthesis, clinically characterized by congenital microcephaly, psychomotor retardation, and seizures." []
synonym: "PHGDH deficiency" [UniProt]
xref: MedGen:C1866174
xref: MeSH:D000592
xref: MIM:601815 "phenotype"
[Term]
id: DI-02162
name: Phosphoribosylpyrophosphate synthetase superactivity
def: "Familial disorder characterized by excessive purine production, gout and uric acid urolithiasis." []
synonym: "PRPS-related gout" [UniProt]
xref: MedGen:C1839469
xref: MedGen:C1970827
xref: MIM:300661 "phenotype"
[Term]
id: DI-02163
name: Phosphoserine aminotransferase deficiency
def: "Characterized biochemically by low plasma and cerebrospinal fluid concentrations of serine and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation." []
xref: MedGen:C1970253
xref: MIM:610992 "phenotype"
[Term]
id: DI-02164
name: Piebald trait
def: "Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes." []
synonym: "Piebaldism" [UniProt]
xref: MedGen:C0080024
xref: MIM:172800 "phenotype"
[Term]
id: DI-02165
name: Pierson syndrome
def: "An autosomal recessive disorder characterized by nephrotic syndrome with neonatal onset, diffuse mesangial sclerosis, and eye abnormalities with microcoria and hypoplasia of the ciliary and pupillary muscles. Death usually occurs within the first weeks of life. Patients who survive tend to show neurodevelopmental delay and visual loss." []
synonym: "Microcoria-congenital nephrotic syndrome" [UniProt]
xref: MedGen:C1836876
xref: MeSH:D005128
xref: MeSH:D009404
xref: MIM:609049 "phenotype"
[Term]
id: DI-02166
name: Pigmented paravenous chorioretinal atrophy
def: "Unusual retinal degeneration characterized by accumulation of pigmentation along retinal veins. PPCRA is dominantly inherited, but exhibited variable expressivity. Males are more likely to exhibit a severe phenotype, whereas females may remain virtually asymptomatic even in later years. The PPCRA phenotype is associated with a mutation in CRB1 gene which is likely to affect the structure of the CRB1 protein." []
xref: MedGen:C1868310
xref: MIM:172870 "phenotype"
[Term]
id: DI-02167
name: Pilomatrixoma
def: "Common benign skin tumor." []
xref: MedGen:C0206711
xref: MIM:132600 "phenotype"
[Term]
id: DI-02168
name: Pitt-Hopkins syndrome
def: "A syndrome characterized by intellectual disability, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea. Features include intellectual disability with severe speech impairment, normal growth parameters at birth, postnatal microcephaly, breathing anomalies, severe motor developmental delay, motor incoordination, ocular anomalies, constipation, seizures, typical behavior and subtle brain abnormalities." []
synonym: "Encephalopathy severe epileptic with autonomic dysfunction" [UniProt]
xref: MedGen:C1970431
xref: MeSH:D006985
xref: MeSH:D008607
xref: MIM:610954 "phenotype"
[Term]
id: DI-02169
name: Plasminogen activator inhibitor-1 deficiency
def: "A hematologic disorder characterized by increased bleeding after trauma, injury, or surgery. Affected females have menorrhagia. The bleeding defect is due to increased fibrinolysis of fibrin blood clots due to deficiency of plasminogen activator inhibitor-1, which inhibits tissue and urinary activators of plasminogen." []
xref: MedGen:C2750067
xref: MeSH:D025861
xref: MIM:613329 "phenotype"
[Term]
id: DI-02170
name: Platelet glycoprotein IV deficiency
def: "A disorder characterized by macrothrombocytopenia without notable hemostatic problems and bleeding tendency. Platelet glycoprotein IV deficiency can be divided into 2 subgroups. The type I phenotype is characterized by platelets and monocytes/macrophages exhibiting complete CD36 deficiency. The type II phenotype lacks the surface expression of CD36 in platelets, but expression in monocytes/macrophages is near normal." []
synonym: "BDPLT10" [UniProt]
synonym: "Bleeding disorder platelet-type 10" [UniProt]
synonym: "CD36 deficiency" [UniProt]
xref: MedGen:C1842090
xref: MeSH:D013921
xref: MIM:608404 "phenotype"
[Term]
id: DI-02171
name: Platelet-activating factor acetylhydrolase deficiency
def: "An enzymatic deficiency that results in exacerbated bodily response to inflammatory agents. It can be associated with several disease states including inflammatory gastrointestinal disorders, asthma and atopy. Asthmatic individuals with PAFAD may manifest aggravated respiratory symptoms." []
xref: MedGen:C1866472
xref: MedGen:C3280315
xref: MeSH:D006969
xref: MIM:614278 "phenotype"
[Term]
id: DI-02173
name: Platyspondylic lethal skeletal dysplasia Torrance type
def: "Platyspondylic lethal skeletal dysplasias (PLSDs) are a heterogeneous group of chondrodysplasias characterized by severe platyspondyly and limb shortening. PLSD-T is characterized by varying platyspondyly, short ribs with anterior cupping, hypoplasia of the lower ilia with broad ischial and pubic bones, and shortening of the tubular bones with splayed and cupped metaphyses. Histology of the growth plate typically shows focal hypercellularity with slightly enlarged chondrocytes in the resting cartilage and relatively well-preserved columnar formation and ossification at the chondro-osseous junction. PLSD-T is generally a perinatally lethal disease, but a few long-term survivors have been reported." []
xref: MedGen:C1835437
xref: MedGen:C1835439
xref: MIM:151210 "phenotype"
[Term]
id: DI-02174
name: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
def: "A recessively inherited disease characterized by presenile dementia along with large-scale destruction of cancellous bones. Initial symptoms, starting in the twenties, are pain and swelling resulting from cysts in the wrists and ankles. Extremity bone fractures could occur with minor trauma. At around 30 years of age, patients gradually develop neuropsychiatric symptoms, including epileptic seizures, agnosia, apraxia, speech disorder, memory disturbance, euphoria, and loss of social inhibitions. The disorder usually leads to death in the fifth decade of life." []
synonym: "Nasu-Hakola disease" [UniProt]
synonym: "NHD" [UniProt]
synonym: "Presenile dementia with bone cysts" [UniProt]
xref: MedGen:C1857316
xref: MeSH:D001927
xref: MIM:221770 "phenotype"
[Term]
id: DI-02175
name: Polycystic liver disease 1 with or without kidney cysts
def: "An autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. A subset of patients may develop kidney cysts that usually do not result in clinically significant renal disease." []
xref: MedGen:C0158683
xref: MeSH:D003560
xref: MeSH:D008107
xref: MIM:174050 "phenotype"
[Term]
id: DI-02176
name: Pontocerebellar hypoplasia 2A
def: "A disorder characterized by an abnormally small cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration." []
synonym: "PCH2" [UniProt]
synonym: "Pontocerebellar hypoplasia with progressive cerebral atrophy" [UniProt]
synonym: "Volendam neurodegenerative disease" [UniProt]
xref: MedGen:C1848526
xref: MeSH:D002526
xref: MIM:277470 "phenotype"
[Term]
id: DI-02177
name: Pontocerebellar hypoplasia 2B
def: "A disorder characterized by an abnormally small cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration." []
xref: MedGen:C2676466
xref: MeSH:D002526
xref: MIM:612389 "phenotype"
[Term]
id: DI-02178
name: Pontocerebellar hypoplasia 2C
def: "A disorder characterized by an abnormally small cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration." []
xref: MedGen:C2676465
xref: MeSH:D002526
xref: MIM:612390 "phenotype"
[Term]
id: DI-02179
name: Pontocerebellar hypoplasia 4
def: "A disorder characterized by an abnormally small cerebellum and brainstem, severe neonatal encephalopathy, microcephaly, myoclonus and muscular hypertonia. There is a severe inferior olivary and pontine neuronal loss and a diffuse white matter gliosis." []
synonym: "Encephalopathy fatal infantile with olivopontocerebellar hypoplasia" [UniProt]
xref: MedGen:C1856974
xref: MeSH:D009849
xref: MIM:225753 "phenotype"
[Term]
id: DI-02180
name: Pontocerebellar hypoplasia 6
def: "A disorder characterized by an abnormally small cerebellum and brainstem, infantile encephalopathy, generalized hypotonia, lethargy and poor feeding. Recurrent apnea, intractable seizures occur early in the course of this condition." []
synonym: "Fatal infantile encephalopathy with mitochondrial respiratory chain defects" [UniProt]
xref: MedGen:C1969084
xref: MeSH:D002526
xref: MIM:611523 "phenotype"
[Term]
id: DI-02181
name: Popliteal pterygium syndrome
def: "An autosomal dominant disorder characterized by oro-facial, skin and genital anomalies. Expressivity is variable. Clinical features include cleft lip/palate, lower lip cysts, syngnathia, congenital ankyloblepharon filiforme in some cases, bifid scrotum, hypoplastic scrotum, hypoplastic uterus, talipes equinovarus." []
synonym: "Cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies" [UniProt]
synonym: "Faciogenitopopliteal syndrome" [UniProt]
xref: MedGen:C0265259
xref: MeSH:D011625
xref: MIM:119500 "phenotype"
[Term]
id: DI-02182
name: Brain small vessel disease 1 with or without ocular anomalies
def: "An autosomal dominant cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD1 features include cerebral hemorrage, unilateral fluid- filled cysts or cavities within the cerebral hemispheres, leukoencephalopathy, hemiplegia, seizures, intellectual disability, and facial paresis. Affected individuals may manifest variable visual defects and ocular anomalies." []
synonym: "ADT1P" [UniProt]
synonym: "Brain small vessel disease with Axenfeld-Rieger anomaly" [UniProt]
synonym: "Brain small vessel disease with hemorrhage" [UniProt]
synonym: "Gould syndrome 1" [UniProt]
synonym: "Hemiplegia infantile with porencephaly" [UniProt]
synonym: "Leukoencephalopathy with Axenfeld-Rieger anomaly" [UniProt]
synonym: "POREN1" [UniProt]
synonym: "Porencephaly 1" [UniProt]
synonym: "Porencephaly type 1" [UniProt]
synonym: "Porencephaly type 1 autosomal dominant" [UniProt]
synonym: "Retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant" [UniProt]
synonym: "T1P" [UniProt]
xref: MedGen:C1867983
xref: MeSH:D001927
xref: MIM:175780 "phenotype"
[Term]
id: DI-02183
name: Cataract 31, multiple types
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT31 includes posterior polar, progressive posterior subcapsular, nuclear, and anterior subcapsular cataracts." []
synonym: "CPP3" [UniProt]
synonym: "CTPP3" [UniProt]
synonym: "Posterior polar cataract 3" [UniProt]
xref: MedGen:C1854311
xref: MeSH:D002386
xref: MIM:605387 "phenotype"
[Term]
id: DI-02184
name: Cataract 11, multiple types
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT11 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. Some CTRCT11 patients can present a severe phenotype including microphthalmia and neurological dysfunction." []
synonym: "Cataract 11 with microphthalmia and neurodevelopmental abnormalities" [UniProt]
synonym: "Cataract posterior polar 4" [UniProt]
synonym: "CPP4" [UniProt]
synonym: "CTPP4" [UniProt]
synonym: "Syndromic cataract 11" [UniProt]
xref: MedGen:C1864567
xref: MeSH:D002386
xref: MIM:610623 "phenotype"
[Term]
id: DI-02185
name: Corneal dystrophy, posterior polymorphous, 2
def: "A rare mild subtype of posterior corneal dystrophy characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic." []
xref: MedGen:C1852795
xref: MeSH:D003317
xref: MIM:609140 "phenotype"
[Term]
id: DI-02186
name: Corneal dystrophy, posterior polymorphous, 3
def: "A subtype of posterior corneal dystrophy, a disease characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic." []
xref: MedGen:C1836724
xref: MeSH:D003317
xref: MIM:609141 "phenotype"
[Term]
id: DI-02187
name: Pre-eclampsia/eclampsia 4
def: "A hypertensive disorder of pregnancy characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. It impacts 2 individuals, the mother and her child, both of whom can be severely affected. Preeclampsia is one of the causes of maternal mortality and morbidity worldwide." []
synonym: "Gestational proteinuric hypertension" [UniProt]
xref: MedGen:C1836255
xref: MeSH:D004461
xref: MeSH:D011225
xref: MIM:609404 "phenotype"
[Term]
id: DI-02188
name: Prekallikrein deficiency
def: "An autosomal recessive condition characterized by a clotting defect due to prolongation of activated partial thromboplastin time. Affected individuals are clinically asymptomatic." []
synonym: "Fletcher factor deficiency" [UniProt]
synonym: "PKK deficiency" [UniProt]
xref: MedGen:C0272339
xref: MeSH:D001778
xref: MIM:612423 "phenotype"
[Term]
id: DI-02189
name: Premature chromatid separation trait
def: "Consists of separate and splayed chromatids with discernible centromeres and involves all or most chromosomes of a metaphase. It is found in up to 2% of metaphases in cultured lymphocytes from approximately 40% of normal individuals. When PCS is present in 5% or more of cells, it is known as the heterozygous PCS trait and has no obvious phenotypic effect, although some have reported decreased fertility. Inheritance is autosomal dominant." []
xref: MedGen:C1864389
xref: MIM:176430 "phenotype"
[Term]
id: DI-02191
name: Premature ovarian failure 2A
def: "An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol." []
xref: MedGen:C1845293
xref: MeSH:D016649
xref: MIM:300511 "phenotype"
[Term]
id: DI-02192
name: Premature ovarian failure 2B
def: "An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol." []
xref: MedGen:C1845105
xref: MeSH:D016649
xref: MIM:300604 "phenotype"
[Term]
id: DI-02193
name: Premature ovarian failure 3
def: "An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol." []
xref: MedGen:C1837008
xref: MeSH:D016649
xref: MIM:608996 "phenotype"
[Term]
id: DI-02194
name: Premature ovarian failure 4
def: "An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol." []
xref: MedGen:C1845295
xref: MeSH:D016649
xref: MIM:300510 "phenotype"
[Term]
id: DI-02195
name: Premature ovarian failure 5
def: "An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol." []
xref: MedGen:C1969060
xref: MeSH:D016649
xref: MIM:611548 "phenotype"
[Term]
id: DI-02196
name: Premature ovarian failure 6
def: "An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol." []
xref: MedGen:C2676742
xref: MeSH:D016649
xref: MIM:612310 "phenotype"
[Term]
id: DI-02197
name: Avascular necrosis of femoral head, primary, 1
def: "A disease characterized by mechanical failure of the subchondral bone, and degeneration of the hip joint. It usually leads to destruction of the hip joint in the third to fifth decade of life. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause considerable disability. ANFH1 inheritance is autosomal dominant." []
synonym: "Aseptic necrosis of femoral head" [UniProt]
synonym: "Avascular necrosis of femoral head" [UniProt]
synonym: "Ischemic necrosis of femoral head" [UniProt]
synonym: "Osteonecrosis of femoral head" [UniProt]
xref: MedGen:C0410480
xref: MeSH:D005271
xref: MIM:608805 "phenotype"
[Term]
id: DI-02198
name: Bile acid malabsorption, primary, 1
def: "An autosomal recessive intestinal disorder associated with chronic watery diarrhea, excess fecal bile acids, steatorrhea and interruption of the enterohepatic circulation of bile acids." []
xref: MedGen:C2750087
xref: MeSH:D045602
xref: MIM:613291 "phenotype"
[Term]
id: DI-02199
name: Ciliary dyskinesia, primary, 11
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome." []
synonym: "ICS11" [UniProt]
synonym: "Immotile cilia syndrome 11" [UniProt]
synonym: "Primary ciliary dyskinesia 11 without situs inversus" [UniProt]
xref: MedGen:C2675229
xref: MeSH:D007619
xref: MIM:612649 "phenotype"
[Term]
id: DI-02200
name: Ciliary dyskinesia, primary, 12
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome." []
synonym: "ICS12" [UniProt]
synonym: "Immotile cilia syndrome 12" [UniProt]
synonym: "Primary ciliary dyskinesia 12 without situs inversus" [UniProt]
xref: MedGen:C2675228
xref: MeSH:D007619
xref: MIM:612650 "phenotype"
[Term]
id: DI-02201
name: Primary erythermalgia
def: "Autosomal dominant disease characterized by recurrent episodes of severe pain associated with redness and warmth in the feet or hands." []
xref: MedGen:C0014805
xref: MedGen:C3276706
xref: MIM:133020 "phenotype"
[Term]
id: DI-02202
name: Primary failure of tooth eruption
def: "Rare condition that has high penetrance and variable expressivity and in which tooth retention occurs without evidence of any obvious mechanical interference. Instead, malfunction of the eruptive mechanism itself appears to cause nonankylosed permanent teeth to fail to erupt, although the eruption pathway has been cleared by bone resorption." []
synonym: "Dental non-eruption" [UniProt]
synonym: "Familial posterior openbite malocclusion" [UniProt]
synonym: "Non-syndromic primary failure of eruption" [UniProt]
synonym: "Primary retention of teeth" [UniProt]
synonym: "Unerupted second primary molar" [UniProt]
xref: MedGen:C1852222
xref: MeSH:D014076
xref: MIM:125350 "phenotype"
[Term]
id: DI-02204
name: Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
def: "A disease characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and variable features of pachydermia that include thickened facial skin and a thickened scalp. Other developmental anomalies include delayed closure of the cranial sutures and congenital heart disease." []
synonym: "Pachydermoperiostosis autosomal recessive" [UniProt]
synonym: "PDP autosomal recessive" [UniProt]
synonym: "PHO autosomal recessive" [UniProt]
synonym: "Touraine-Solente-Gole syndrome" [UniProt]
xref: MedGen:C0029411
xref: MedGen:C2678440
xref: MedGen:C2678441
xref: MeSH:D010004
xref: MIM:259100 "phenotype"
[Term]
id: DI-02205
name: Lung cancer
def: "A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis." []
synonym: "Adenocarcinoma of lung" [UniProt]
synonym: "Alveolar cell carcinoma" [UniProt]
synonym: "Nonsmall cell lung cancer" [UniProt]
xref: MedGen:C0007120
xref: MedGen:C0007131
xref: MedGen:C0152013
xref: MedGen:C0684249
xref: MedGen:C1968897
xref: MeSH:D008175
xref: MIM:211980 "phenotype"
[Term]
id: DI-02206
name: Microcephaly 3, primary, autosomal recessive
def: "A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have mild to moderate intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder." []
xref: MedGen:C1858108
xref: MeSH:D008831
xref: MIM:604804 "phenotype"
[Term]
id: DI-02207
name: Microcephaly 6, primary, autosomal recessive
def: "A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have moderate intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder." []
xref: MedGen:C1608393
xref: MedGen:C1842109
xref: MeSH:D008831
xref: MIM:608393 "phenotype"
[Term]
id: DI-02208
name: Primary spontaneous pneumothorax
def: "Condition in which air is present in the pleural space in the absence of a precipitating event, such as trauma or lung disease. This results in secondary collapse of the lung, either partially or completely, and some degree of hypoxia. PSP is relatively common, with an incidence between 7.4-18/100'000 for men and 1.2-6/100'000 for women and a dose- dependent, increased risk among smokers. Most cases are sporadic, typically occurring in tall, thin men aged 10-30 years and generally while at rest. Familial PSP is rarer and usually is inherited as an autosomal dominant condition with reduced penetrance, although X- linked recessive and autosomal recessive inheritance have also been suggested." []
xref: MedGen:C1868193
xref: MIM:173600 "phenotype"
[Term]
id: DI-02209
name: Immunodeficiency 25
def: "An immunological deficiency characterized by T-cells impaired immune response to alloantigens, tetanus toxoid and mitogens." []
synonym: "Immunodeficiency due to defect in CD3-zeta" [UniProt]
xref: MedGen:C1857798
xref: MeSH:D007153
xref: MIM:610163 "phenotype"
[Term]
id: DI-02210
name: Spongiform encephalopathy with neuropsychiatric features
def: "Autosomal dominant presenile dementia with a rapidly progressive and protracted clinical course. The dementia was characterized clinically by frontotemporal features, including early personality changes. Some patients had memory loss, several showed aggressiveness, hyperorality and verbal stereotypy, others had parkinsonian symptoms." []
xref: MedGen:C1847650
xref: MIM:606688 "phenotype"
[Term]
id: DI-02211
name: Obesity, early-onset, with adrenal insufficiency and red hair
def: "An autosomal recessive disorder characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism." []
synonym: "Pro-opiomelanocortinin deficiency" [UniProt]
xref: MedGen:C1857854
xref: MeSH:D009765
xref: MIM:609734 "phenotype"
[Term]
id: DI-02212
name: Progressive osseous heteroplasia
def: "Rare autosomal dominant disorder characterized by extensive dermal ossification during childhood, followed by disabling and widespread heterotopic ossification of skeletal muscle and deep connective tissue." []
xref: MedGen:C0334041
xref: MedGen:CN034473
xref: MIM:166350 "phenotype"
[Term]
id: DI-02213
name: Progressive pseudorheumatoid dysplasia
def: "An autosomal recessive disorder characterized by stiffness and swelling of joints, motor weakness and joint contractures. Signs and symptoms of the disease develop typically between three and eight years of age. This progressive disease is a primary disorder of articular cartilage with continued cartilage loss and destructive bone changes with aging." []
synonym: "Arthropathy, progressive pseudorheumatoid, of childhood" [UniProt]
synonym: "PPAC" [UniProt]
synonym: "PPD" [UniProt]
synonym: "Progressive pseudorheumatoid arthropathy of childhood" [UniProt]
synonym: "SEDT-PA" [UniProt]
synonym: "Spondyloepiphyseal dysplasia tarda with progressive arthropathy;" [UniProt]
xref: MedGen:C0432215
xref: MeSH:D007592
xref: MIM:208230 "phenotype"
[Term]
id: DI-02215
name: Progressive supranuclear palsy 1
def: "Characterized by akinetic-rigid syndrome, supranuclear gaze palsy, pyramidal tract dysfunction, pseudobulbar signs and cognitive capacities deterioration. Neurofibrillary tangles and gliosis but no amyloid plaques are found in diseased brains. Most cases appear to be sporadic, with a significant association with a common haplotype including the MAPT gene and the flanking regions. Familial cases show an autosomal dominant pattern of transmission with incomplete penetrance; genetic analysis of a few cases showed the occurrence of tau mutations, including a deletion of Asn-613." []
synonym: "PSP" [UniProt]
synonym: "Steele-Richardson-Olszewski syndrome" [UniProt]
xref: MedGen:C0038868
xref: MIM:601104 "phenotype"
[Term]
id: DI-02216
name: Progressive symmetric erythrokeratodermia
def: "Erythrokeratodermas are a group of disorders characterized by widespread erythematous plaques, either stationary or migratory, associated with features that include palmoplantar keratoderma. PSEK is characterized by erythematous and hyperkeratotic plaques." []
xref: MIM:133200 "phenotype"
[Term]
id: DI-02218
name: Prolidase deficiency
def: "A multisystem disorder associated with massive iminodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. Clinical features include skin ulcers, developmental delay, recurrent infections, and a characteristic facies." []
xref: MedGen:C0268532
xref: MeSH:D056732
xref: MIM:170100 "phenotype"
[Term]
id: DI-02219
name: Prolonged electroretinal response suppression 1
def: "A form of bradyopsia, an ocular disorder characterized by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia. PERRS1 is an autosomal recessive form with onset in childhood." []
synonym: "Bradyopsia" [UniProt]
synonym: "PERRS" [UniProt]
synonym: "Prolonged electroretinal response suppression" [UniProt]
xref: MedGen:C1842073
xref: MeSH:D015785
xref: MIM:608415 "phenotype"
[Term]
id: DI-02220
name: Properdin deficiency
def: "Results in higher susceptibility to bacterial infections; especially to meningococcal infections. Three phenotypes have been reported: complete deficiency (type I), incomplete deficiency (type II), and dysfunction of properdin (type III)." []
xref: MedGen:C1839454
xref: MedGen:C1839455
xref: MedGen:C1839456
xref: MIM:312060 "phenotype"
[Term]
id: DI-02221
name: Propionic acidemia type I
def: "Life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein." []
xref: MedGen:C0268579
xref: MedGen:C0311297
xref: MIM:606054 "phenotype"
[Term]
id: DI-02222
name: Propionic acidemia type II
def: "Life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein." []
xref: MedGen:C0268579
xref: MedGen:C0311298
xref: MIM:606054 "phenotype"
[Term]
id: DI-02223
name: Proprotein convertase 1 deficiency
def: "Characterized by obesity, hypogonadism, hypoadrenalism, reactive hypoglycemia as well as marked small-intestinal absorptive dysfunction It is due to impaired processing of prohormones." []
xref: MedGen:C1833053
xref: MIM:600955 "phenotype"
[Term]
id: DI-02224
name: Immunodeficiency 35
def: "A primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly elevated serum IgE." []
synonym: "Autosomal recessive HIES with atypical mycobacteriosis" [UniProt]
synonym: "Autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis" [UniProt]
synonym: "TYK2 deficiency" [UniProt]
synonym: "Tyrosine kinase 2 deficiency" [UniProt]
xref: MedGen:C1969086
xref: MeSH:D007153
xref: MIM:611521 "phenotype"
[Term]
id: DI-02226
name: Proximal renal tubular acidosis-ocular anomaly syndrome
def: "An extremely rare autosomal recessive syndrome characterized by short stature, profound proximal renal tubular acidosis, intellectual disability, bilateral glaucoma, cataracts and bandkeratopathy." []
synonym: "Autosomal recessive proximal RTA" [UniProt]
synonym: "Proximal renal tubular acidosis with ocular abnormalities" [UniProt]
synonym: "pRTA-OA" [UniProt]
synonym: "Renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development" [UniProt]
xref: MedGen:C1970309
xref: MeSH:D000141
xref: MIM:604278 "phenotype"
[Term]
id: DI-02227
name: Pseudoachondroplasia
def: "A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower limbs, brachydactyly, ligamentous laxity, and degenerative joint disease." []
synonym: "Pseudoachondroplastic dysplasia" [UniProt]
synonym: "Spondyloepiphyseal dysplasia pseudoachondroplastic" [UniProt]
xref: MedGen:C0410538
xref: MeSH:D010009
xref: MIM:177170 "phenotype"
[Term]
id: DI-02228
name: Pseudohypoaldosteronism 2C
def: "An autosomal dominant disorder characterized by severe hypertension, hyperkalemia, hyperchloremia, mild hyperchloremic metabolic acidosis in some cases, and correction of physiologic abnormalities by thiazide diuretics." []
xref: MedGen:C1840391
xref: MeSH:D011546
xref: MIM:614492 "phenotype"
[Term]
id: DI-02229
name: Pseudohypoparathyroidism 1A
def: "A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. It is commonly associated with Albright hereditary osteodystrophy whose features are short stature, obesity, round facies, short metacarpals and ectopic calcification." []
synonym: "Albright hereditary osteodystrophy with multiple hormone resistance" [UniProt]
xref: MedGen:C0033806
xref: MedGen:C3494506
xref: MeSH:D011547
xref: MIM:103580 "phenotype"
[Term]
id: DI-02230
name: Pseudovaginal perineoscrotal hypospadias
def: "A form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum." []
synonym: "5-ARD deficiency" [UniProt]
synonym: "Familial incomplete male pseudohermaphroditism type 2" [UniProt]
synonym: "Male pseudohermaphroditism due to 5-alpha-reductase deficiency" [UniProt]
xref: MedGen:C0268297
xref: MeSH:D058490
xref: MIM:264600 "phenotype"
[Term]
id: DI-02231
name: Psoriasis 1
def: "A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis." []
synonym: "Psoriasis" [UniProt]
synonym: "Psoriasis vulgaris" [UniProt]
synonym: "PV" [UniProt]
xref: MedGen:C1867449
xref: MeSH:D011565
xref: MIM:177900 "phenotype"
[Term]
id: DI-02232
name: Pulmonary alveolar microlithiasis
def: "Rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years or even for decades and generally, the diagnosis is incidental to clinical investigations unrelated to the disease. Cases with early-onset or rapid progression are rare. A 'sandstorm- appearing' chest roentgenogram is a typical diagnostic finding. The onset of this potentially lethal disease varies from the neonatal period to old age and the disease follows a long-term, progressive course, resulting in a slow deterioration of lung functions. Pulmonary alveolar microlithiasis is a recessive monogenic disease with full penetrance." []
xref: MedGen:C0155912
xref: MIM:265100 "phenotype"
[Term]
id: DI-02233
name: Pulmonary venoocclusive disease 1, autosomal dominant
def: "A disease characterized by widespread fibrous obstruction and intimal thickening of septal veins and preseptal venules, a low diffusing capacity for carbon monoxide, occult alveolar hemorrhage, and nodular ground-glass opacities, septal lines and lymph node enlargement showed by high-resolution computed tomography of the chest. It is frequently associated with pulmonary capillary dilatation and proliferation, and is a rare and devastating cause of pulmonary hypertension." []
synonym: "Pulmonary veno-occlusive disease" [UniProt]
synonym: "PVOD" [UniProt]
xref: MedGen:C0034091
xref: MeSH:D006976
xref: MeSH:D011668
xref: MIM:265450 "phenotype"
[Term]
id: DI-02234
name: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
def: "Characterized by hyperlaxity of the skin involving the entire body. Important phenotypic differences with classical PXE include much more severe skin laxity with spreading toward the trunk and limbs with thick, leathery skin folds rather than confinement to flexural areas, and no decrease in visual acuity. Moreover, detailed electron microscopic analyses revealed that alterations of elastic fibers as well as their mineralization are slightly different from those in classic PXE." []
synonym: "PXE-like disorder with multiple coagulation factor deficiency" [UniProt]
xref: MedGen:C1835813
xref: MIM:610842 "phenotype"
[Term]
id: DI-02235
name: Pyridoxine-5'-phosphate oxidase deficiency
def: "The main feature of neonatal epileptic encephalopathy is the onset within hours of birth of a severe seizure disorder that does not respond to anticonvulsant drugs and can be fatal. Seizures can cease with the administration of PLP, being resistant to treatment with pyridoxine,." []
synonym: "PNPO deficiency" [UniProt]
synonym: "PNPO-related neonatal epileptic encephalopathy" [UniProt]
synonym: "Seizures, pyridoxine-resistant, PLP-sensitive" [UniProt]
xref: MedGen:C1864723
xref: MeSH:D001928
xref: MeSH:D012640
xref: MIM:610090 "phenotype"
[Term]
id: DI-02236
name: Epilepsy, early-onset, 4, vitamin B6-dependent
def: "An autosomal recessive neurologic disorder ocharacterized by a combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride." []
synonym: "PDE" [UniProt]
synonym: "Pyridoxine-dependent epilepsy" [UniProt]
xref: MedGen:C1849508
xref: MeSH:D012640
xref: MIM:266100 "phenotype"
[Term]
id: DI-02237
name: Pyruvate carboxylase deficiency
def: "Leads to lactic acidosis, intellectual disability and death. It occurs in three forms: mild or type A, severe neonatal or type B, and a very mild lacticacidemia." []
xref: MedGen:C0034341
xref: MedGen:C2931141
xref: MIM:266150 "phenotype"
[Term]
id: DI-02238
name: Pyruvate dehydrogenase E1-alpha deficiency
def: "An enzymatic defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis." []
synonym: "Ataxia intermittent with abnormal pyruvate metabolism" [UniProt]
synonym: "Ataxia intermittent with pyruvate dehydrogenase or decarboxylase deficiency" [UniProt]
synonym: "Ataxia with lactic acidosis I" [UniProt]
synonym: "PDH deficiency" [UniProt]
synonym: "Pyruvate decarboxylase deficiency" [UniProt]
synonym: "Pyruvate dehydrogenase deficiency" [UniProt]
xref: MedGen:C0034345
xref: MedGen:C1839413
xref: MedGen:C1839414
xref: MedGen:C1839885
xref: MeSH:D015325
xref: MIM:312170 "phenotype"
[Term]
id: DI-02239
name: Pyruvate dehydrogenase E2 deficiency
def: "Pyruvate dehydrogenase (PDH) deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early childhood. In this form of PDH deficiency episodic dystonia is the major neurological manifestation, with other more common features of pyruvate dehydrogenase deficiency, such as hypotonia and ataxia, being less prominent." []
synonym: "Lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase complex" [UniProt]
xref: MedGen:C1855565
xref: MIM:245348 "phenotype"
[Term]
id: DI-02240
name: Pyruvate dehydrogenase phosphatase deficiency
def: "Results in lactic acidosis leading to neurological dysfunction." []
xref: MedGen:C1837429
xref: MIM:608782 "phenotype"
[Term]
id: DI-02241
name: Pyruvate kinase hyperactivity
def: "Autosomal dominant phenotype characterized by increase of red blood cell ATP." []
synonym: "High red cell ATP syndrome" [UniProt]
xref: MedGen:C1863224
xref: MIM:102900 "phenotype"
[Term]
id: DI-02242
name: Rabson-Mendenhall syndrome
def: "Severe insulin resistance syndrome characterized by insulin-resistant diabetes mellitus with pineal hyperplasia and somatic abnormalities. Typical features include coarse, senile-appearing facies, dental and skin abnormalities, abdominal distension, and phallic enlargement. Inheritance is autosomal recessive." []
synonym: "Mendenhall syndrome" [UniProt]
xref: MedGen:C0271695
xref: MIM:262190 "phenotype"
[Term]
id: DI-02243
name: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
def: "The syndrome consists of an unusual association of bone marrow failure and skeletal defects. Patients have the same skeletal defects, the proximal fusion of the radius and ulna, resulting in extremely limited pronation and supination of the forearm. Some patients have also symptomatic thrombocytopenia, with bruising and bleeding problems since birth, necessitating correction by bone marrow or umbilical-cord stem-cell transplantation." []
synonym: "CTRUS" [UniProt]
synonym: "Radio-ulnar synostosis with amegakaryocytic thrombocytopenia" [UniProt]
synonym: "RUSAT" [UniProt]
synonym: "Thrombocytopenia, congenital, with radioulnar synostosis" [UniProt]
xref: MedGen:C1854273
xref: MeSH:D013580
xref: MeSH:D013921
xref: MIM:605432 "phenotype"
[Term]
id: DI-02244
name: Raine syndrome
def: "An autosomal recessive osteosclerotic bone dysplasia with neonatal lethal outcome, although some patients survive into childhood. Clinical features include generalized increase in the density of all bones and a marked increase in the ossification of the skull, craniofacial dysplasia and microcephaly." []
synonym: "Lethal osteosclerotic bone dysplasia" [UniProt]
synonym: "Osteomalacia, sclerosing, with cerebral calcification" [UniProt]
xref: MedGen:C1850106
xref: MeSH:D010026
xref: MIM:259775 "phenotype"
[Term]
id: DI-02245
name: RAPADILINO syndrome
def: "Disease characterized by radial and patellar aplasia or hypoplasia." []
xref: MedGen:C1849453
xref: MIM:266280 "phenotype"
[Term]
id: DI-02246
name: Imerslund-Grasbeck syndrome 1
def: "A form of Imerslund-Grasbeck syndrome, a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in infancy or early childhood. Clinical manifestations include failure to thrive, infections and neurological damage. Mild proteinuria, with no signs of kidney disease, is present in about half of the patients." []
synonym: "Defect of enterocyte intrinsic factor receptor" [UniProt]
synonym: "Enterocyte cobalamin malabsorption" [UniProt]
synonym: "Megaloblastic anemia 1" [UniProt]
synonym: "Megaloblastic anemia, Finnish type" [UniProt]
synonym: "MGA1" [UniProt]
synonym: "Pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin B12, with proteinuria" [UniProt]
xref: MedGen:C1306856
xref: MeSH:D000749
xref: MIM:261100 "phenotype"
[Term]
id: DI-02247
name: Robinow syndrome, autosomal recessive 1
def: "A recessive form of Robinow syndrome, a disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally far more severe in recessive cases, particularly skeletal abnormalities. All patients with the recessive form suffer from vertebral segmentation abnormalities, resulting in scoliosis and chest deformities. Rib fusions are considered to be characteristic of the autosomal recessive form. Patients can also present brachydactyly, with extensive aplasia/hypoplasia of the phalanges and metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and oligodactyly of the feet." []
synonym: "Costovertebral segmentation defect with mesomelia" [UniProt]
synonym: "COVESDEM syndrome" [UniProt]
synonym: "Robinow syndrome autosomal recessive with aplasia/hypoplasia of phalanges and metacarpals/metatarsals" [UniProt]
synonym: "Robinow syndrome autosomal recessive with brachy-syn-polydactyly" [UniProt]
xref: MedGen:C1849334
xref: MedGen:C3151609
xref: MedGen:C3151610
xref: MeSH:D004392
xref: MeSH:D014564
xref: MeSH:D017880
xref: MeSH:D019465
xref: MIM:268310 "phenotype"
[Term]
id: DI-02248
name: Hemophilia B
def: "An X-linked blood coagulation disorder characterized by a permanent tendency to hemorrhage, due to factor IX deficiency. It is phenotypically similar to hemophilia A, but patients present with fewer symptoms. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma." []
synonym: "Christmas disease" [UniProt]
synonym: "F9 deficiency" [UniProt]
synonym: "Factor IX deficiency" [UniProt]
synonym: "Plasma thromboplastin component deficiency" [UniProt]
synonym: "Recessive X-linked hemophilia B" [UniProt]
xref: MedGen:C0008533
xref: MedGen:CN043453
xref: MedGen:CN043454
xref: MeSH:D002836
xref: MIM:306900 "phenotype"
[Term]
id: DI-02251
name: Regulator type Rh-null hemolytic anemia
def: "Form of chronic hemolytic anemia in which the red blood cells have a stomatocytosis and spherocytosis morphology, an increased osmotic fragility, an altered ion transport system, and abnormal membrane phospholipid organization." []
synonym: "Rh-deficiency syndrome" [UniProt]
xref: MedGen:C0272052
xref: MedGen:C1849387
xref: MIM:268150 "phenotype"
[Term]
id: DI-02252
name: Corneal dystrophy, Reis-Bucklers type
def: "A bilateral disorder of the cornea characterized by intermittent attacks of ocular irritation, recurrent painful corneal erosions starting in childhood, corneal opacities in a geographic pattern at the level of the Bowman layer, and a progressive decrease of visual acuity. The lesions are primarily in Bowman membrane with secondary involvement of the epithelium and superficial part of the stroma. Bowman membrane is almost completely replaced by pathologic materials including disoriented collagen fibrils." []
synonym: "CDB1" [UniProt]
synonym: "Corneal dystrophy of Bowman layer type I" [UniProt]
synonym: "Geographic corneal dystrophy" [UniProt]
synonym: "Granular corneal dystrophy type III" [UniProt]
synonym: "RBCD" [UniProt]
synonym: "Reis-Bucklers corneal dystrophy" [UniProt]
xref: MedGen:C0339278
xref: MeSH:D003317
xref: MIM:608470 "phenotype"
[Term]
id: DI-02253
name: Renal hypodysplasia/aplasia 1
def: "A perinatally lethal renal disease encompassing a spectrum of kidney development defects, including renal agenesis, bilateral renal aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive uropathy." []
synonym: "Renal adysplasia" [UniProt]
synonym: "Renal agenesis" [UniProt]
synonym: "Renal aplasia" [UniProt]
xref: MedGen:C1609433
xref: MedGen:C1619700
xref: MIM:191830 "phenotype"
[Term]
id: DI-02254
name: Renal cell carcinoma
def: "Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non- papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear cell renal cell carcinoma is the most common subtype." []
synonym: "Adenocarcinoma of kidney" [UniProt]
synonym: "CCRCC" [UniProt]
synonym: "Clear cell renal carcinoma" [UniProt]
synonym: "Common renal cell carcinoma" [UniProt]
synonym: "Conventional renal cell carcinoma" [UniProt]
synonym: "CRCC" [UniProt]
synonym: "Hypernephroma" [UniProt]
synonym: "Renal cell carcinoma non-papillary" [UniProt]
xref: MedGen:C0279702
xref: MedGen:C2750825
xref: MedGen:C3160732
xref: MeSH:D002292
xref: MIM:144700 "phenotype"
[Term]
id: DI-02255
name: Renal glucosuria
def: "A disorder characterized by persistent isolated glucosuria, normal fasting serum glucose concentration, decreased renal tubular resorption of glucose from the urine, and absence of any other signs of tubular dysfunction." []
synonym: "Glucosuria, renal" [UniProt]
synonym: "GLYS1" [UniProt]
xref: MedGen:C0017980
xref: MeSH:D006030
xref: MIM:233100 "phenotype"
[Term]
id: DI-02256
name: Hypouricemia renal 1
def: "A disorder characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Patients often appear asymptomatic, but may be subject to exercise-induced acute renal failure, chronic renal dysfunction and nephrolithiasis." []
synonym: "Dalmatian hypouricemia" [UniProt]
synonym: "Renal hypouricemia" [UniProt]
xref: MedGen:C0473219
xref: MeSH:D015499
xref: MIM:220150 "phenotype"
[Term]
id: DI-02257
name: Renal tubular dysgenesis
def: "Autosomal recessive severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype)." []
xref: MedGen:C0266313
xref: MedGen:C2678367
xref: MIM:267430 "phenotype"
[Term]
id: DI-02258
name: Papillorenal syndrome
def: "An autosomal dominant disorder characterized by both ocular and renal anomalies, but may also include vesicoureteral reflux, high frequency hearing loss, central nervous system anomalies, and/or genital anomalies. Eye anomalies in this disorder consist of a wide and sometimes excavated dysplastic optic disk with the emergence of the retinal vessels from the periphery of the disk, designated optic nerve coloboma or 'morning glory' anomaly. Associated findings may include a small corneal diameter, retinal coloboma, scleral staphyloma, optic nerve cyst, microphthalmia, and pigmentary macular dysplasia. The kidneys are small and abnormally formed (renal hypodysplasia), and have fewer than the normal number of glomeruli, which are enlarged (oligomeganephronia). These ocular and renal anomalies result in decreased visual acuity and retinal detachment, as well as hypertension, proteinuria, and renal insufficiency that frequently progresses to end-stage renal disease." []
synonym: "CAKUT with or without ocular abnormalities" [UniProt]
synonym: "Coloboma of optic nerve with renal disease" [UniProt]
synonym: "Congenital anomalies of the kidney and urinary tract with or without ocular abnormalities" [UniProt]
synonym: "Optic coloboma vesicoureteral reflux and renal anomalies" [UniProt]
synonym: "Optic nerve coloboma with renal disease" [UniProt]
synonym: "Renal-coloboma syndrome" [UniProt]
synonym: "Renal-coloboma syndrome with macular abnormalities" [UniProt]
xref: MedGen:C1852759
xref: MeSH:D003103
xref: MeSH:D014718
xref: MeSH:D051437
xref: MIM:120330 "phenotype"
[Term]
id: DI-02259
name: Renal-hepatic-pancreatic dysplasia 1
def: "A disease characterized by cystic malformations of the kidneys, liver, and pancreas. The pathological findings consist of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, a dysplastic pancreas with dilated ducts, cysts, fibrosis and inflammatory infiltrates." []
synonym: "RHPD" [UniProt]
xref: MedGen:C2673883
xref: MeSH:D000015
xref: MIM:208540 "phenotype"
[Term]
id: DI-02260
name: Renpenning syndrome 1
def: "An X-linked syndrome characterized by intellectual disability, microcephaly, short stature, and small testes. The craniofacies tends to be narrow and tall with upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies." []
synonym: "Golabi-Ito-Hall syndrome" [UniProt]
synonym: "MRX55" [UniProt]
synonym: "MRXS3" [UniProt]
synonym: "MRXS8" [UniProt]
synonym: "SHS" [UniProt]
xref: MedGen:C0796135
xref: MeSH:D038901
xref: MIM:309500 "phenotype"
[Term]
id: DI-02261
name: Reticular dysgenesis
def: "A fatal form of severe combined immunodeficiency, characterized by absence of granulocytes, almost complete deficiency of lymphocytes in peripheral blood, hypoplasia of the thymus and secondary lymphoid organs, and lack of innate and adaptive humoral and cellular immunity, leading to fatal septicemia within days after birth. In bone marrow of individuals with reticular dysgenesis, myeloid differentiation is blocked at the promyelocytic stage, whereas erythro- and megakaryocytic maturation is generally normal. Inheritance is autosomal recessive." []
synonym: "Aleukocytosis" [UniProt]
synonym: "Congenital aleukia" [UniProt]
synonym: "De Vaal disease" [UniProt]
synonym: "Hematopoietic hypoplasia, generalized" [UniProt]
synonym: "Severe combined immunodeficiency with leukopenia" [UniProt]
xref: MedGen:C0272167
xref: MeSH:D016511
xref: MIM:267500 "phenotype"
[Term]
id: DI-02262
name: Retinal cone dystrophy 4
def: "Characterized by minimal symptoms except for slowly progressive reduction in visual acuity." []
xref: MedGen:C1864849
xref: MIM:610478 "phenotype"
[Term]
id: DI-02263
name: Retinitis pigmentosa 36
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C1864621
xref: MeSH:D012174
xref: MIM:610599 "phenotype"
[Term]
id: DI-02264
name: Retinitis pigmentosa 45
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C3151066
xref: MeSH:D012174
xref: MIM:613767 "phenotype"
[Term]
id: DI-02265
name: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
def: "A disease characterized by retinal degeneration, ocular colobomas involving both the anterior and posterior segment, impaired night vision and loss of visual acuity. Additional characteristic features include developmental abnormalities and severe acne." []
xref: MedGen:C3554593
xref: MedGen:CN168288
xref: MeSH:D000152
xref: MeSH:D003103
xref: MeSH:D058499
xref: MIM:615147 "phenotype"
[Term]
id: DI-02266
name: Rhabdoid tumor predisposition syndrome 1
def: "A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood." []
synonym: "Atypical teratoid tumor" [UniProt]
synonym: "Malignant rhabdoid tumor somatic" [UniProt]
synonym: "MRT" [UniProt]
synonym: "RDT" [UniProt]
synonym: "Rhabdoid tumor" [UniProt]
xref: MedGen:C0206743
xref: MedGen:C1266184
xref: MedGen:C1836326
xref: MedGen:C1836327
xref: MedGen:C2750405
xref: MeSH:D018335
xref: MIM:609322 "phenotype"
[Term]
id: DI-02267
name: Rhabdomyosarcoma, embryonal, 1
def: "A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas." []
synonym: "Rhabdomyosarcoma 1" [UniProt]
synonym: "RMS1" [UniProt]
xref: MedGen:C1849385
xref: MeSH:D018233
xref: MIM:268210 "phenotype"
[Term]
id: DI-02268
name: Ribose 5-phosphate isomerase deficiency
def: "An autosomal recessive inborn error of polyols metabolism characterized by highly elevated level of ribitol and arabitol in brain and body fluids. Clinical features include leukoencephalopathy, psychomotor retardation from early life, neurologic regression, and a mild sensorimotor neuropathy." []
xref: MedGen:C1291609
xref: MeSH:D002239
xref: MIM:608611 "phenotype"
[Term]
id: DI-02269
name: Riddle syndrome
def: "An autosomal recessive disorder characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature." []
synonym: "Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties" [UniProt]
xref: MedGen:C2677792
xref: MeSH:D000081207
xref: MeSH:D007859
xref: MeSH:D019465
xref: MIM:611943 "phenotype"
[Term]
id: DI-02270
name: Rippling muscle disease 2
def: "A disorder characterized by mechanically triggered contractions of skeletal muscle. Mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers and cause visible ripples to move over the muscle. RMD2 inheritance is autosomal dominant or autosomal recessive." []
synonym: "LGMD1C" [UniProt]
synonym: "Limb-girdle muscular dystrophy 1C" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 1C" [UniProt]
xref: MedGen:C1832560
xref: MedGen:C1853698
xref: MeSH:D009135
xref: MIM:606072 "phenotype"
[Term]
id: DI-02272
name: Roberts-SC phocomelia syndrome
def: "An autosomal recessive disorder characterized by pre- and postnatal growth retardation, intellectual disability, microcephaly, bilateral cleft lip and cleft palate, and mesomelic symmetric limb reduction. Severely affected infants may be stillborn or die shortly after birth. Patient chromosomes have a lack of cohesion involving heterochromatic C-banding regions around centromeres and the heterochromatin regions on the 1, 9, 16, and Y chromosomes. These findings are referred to as premature centromere separation (PCS) and heterochromatin repulsion (HR), and they are important for the diagnosis of the syndrome." []
synonym: "Long bone deficiencies associated with cleft lip-palate" [UniProt]
synonym: "Roberts syndrome" [UniProt]
synonym: "SC phocomelia syndrome" [UniProt]
synonym: "SC pseudothalidomide syndrome" [UniProt]
xref: MedGen:C0392475
xref: MeSH:D004480
xref: MeSH:D008607
xref: MeSH:D019465
xref: MIM:268300 "phenotype"
[Term]
id: DI-02273
name: Rokitansky-Kuster-Hauser syndrome
def: "Characterized by utero-vaginal atresia in otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total Muellerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5'000 newborn girls." []
synonym: "Mayer-Rokitansky-Kuster-Hauser syndrome" [UniProt]
synonym: "MRKH anomaly" [UniProt]
synonym: "MRKH syndrome" [UniProt]
xref: MedGen:C1698581
xref: MIM:277000 "phenotype"
[Term]
id: DI-02274
name: Rothmund-Thomson syndrome 2
def: "A form of Rothmund-Thomson syndrome, a disorder characterized by sparse hair, eyebrows and eyelashes, juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dysplastic nails, and skeletal and dental abnormalities. RTS2 is an autosomal recessive form frequently accompanied by an increased risk of osteosarcoma in childhood and skin cancer later in life." []
xref: MedGen:C5203410
xref: MeSH:D011038
xref: MIM:268400 "phenotype"
[Term]
id: DI-02275
name: Roussy-Levy syndrome
def: "Autosomal dominant disorder that resembles Charcot-Marie-Tooth disease type 1 in that it presents with foot deformity, weakness and atrophy of distal limb muscles, especially the peronei, and absent tendon reflexes. The phenotype differs, however, in that it includes static tremor of the upper limbs and gait ataxia." []
synonym: "Roussy-Levy hereditary areflexic dystasia" [UniProt]
xref: MedGen:C0205713
xref: MIM:180800 "phenotype"
[Term]
id: DI-02277
name: Sacral defect with anterior meningocele
def: "Form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant." []
xref: MedGen:C0037205
xref: MedGen:C0300948
xref: MedGen:C0344490
xref: MedGen:C1838568
xref: MedGen:C1838569
xref: MIM:600145 "phenotype"
[Term]
id: DI-02278
name: Salla disease
def: "Sialic acid storage disease (SASD). SASDs are autosomal recessive neurodegenerative disorders characterized by hypotonia, cerebellar ataxia and intellectual disability. They are caused by a defect in the metabolism of sialic acid which results in increased urinary excretion of unconjugated sialic acid, specifically N-acetylneuraminic acid. Enlarged lysosomes are seen on electron microscopic studies. Clinical symptoms of SD present usually at age less than 1 year and progression is slow." []
synonym: "Finnish type sialuria" [UniProt]
xref: MedGen:C1096903
xref: MIM:604369 "phenotype"
[Term]
id: DI-02279
name: Sarcosinemia
def: "A metabolic disorder characterized by an increased concentration of sarcosine in plasma and an increased excretion of sarcosine in urine. Sarcosinemia is most probably a benign condition without significant clinical problems. Some reports have associated sarcosinemia with intellectual disability and neurologic problems." []
synonym: "Hypersarcosinemia" [UniProt]
synonym: "Sarcosine dehydrogenase complex deficiency" [UniProt]
synonym: "SARD deficiency" [UniProt]
synonym: "SARDH deficiency" [UniProt]
synonym: "SARDHD" [UniProt]
xref: MedGen:C0268563
xref: MeSH:D000592
xref: MIM:268900 "phenotype"
[Term]
id: DI-02282
name: Schimke immuno-osseous dysplasia
def: "An autosomal recessive pleiotropic disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and immunodeficiency. Arteriosclerosis may also occur in some case." []
synonym: "Immunoosseous dysplasia, Schimke type" [UniProt]
synonym: "Schimke immunoosseous dysplasia" [UniProt]
xref: MedGen:C0877024
xref: MeSH:D007153
xref: MeSH:D007674
xref: MeSH:D010009
xref: MIM:242900 "phenotype"
[Term]
id: DI-02283
name: Schindler disease
def: "Form of NAGA deficiency characterized by early-onset neuroaxonal dystrophy and neurological signs (convulsion during fever, epilepsy, psychomotor retardation and hypotonia). NAGA deficiency is typically classified in three main phenotypes: NAGA deficiency type I (Schindler disease or Schindler disease type I) with severe manifestations; NAGA deficiency type II (Kanzazi disease or Schindler disease type II) which is mild; NAGA deficiency type III (Schindler disease type III) characterized by mild-to-moderate neurologic manifestations. NAGA deficiency results in the increased urinary excretion of glycopeptides and oligosaccharides containing alpha-N-acetylgalactosaminyl moieties. Inheritance is autosomal recessive." []
xref: MedGen:C1836544
xref: MedGen:C1836545
xref: MedGen:C1836546
xref: MedGen:C1836547
xref: MIM:609241 "phenotype"
[Term]
id: DI-02284
name: Schizencephaly
def: "Extremely rare human congenital disorder characterized by a full- thickness cleft within the cerebral hemispheres. These clefts are lined with gray matter and most commonly involve the parasylvian regions. Large portions of the cerebral hemispheres may be absent and replaced by cerebro-spinal fluid." []
xref: MedGen:C0266484
xref: MIM:269160 "phenotype"
[Term]
id: DI-02285
name: Schmid type metaphyseal chondrodysplasia
def: "Dominantly inherited disorder of the osseous skeleton. The cardinal features of the phenotype are mild short stature, coxa vara and a waddling gait. Radiography usually shows sclerosis of the ribs, flaring of the metaphyses, and a wide irregular growth plate, especially of the knees. A variant form of SMCD is spondylometaphyseal dysplasia Japanese type. It is characterized by spinal involvement comprising mild platyspondyly, vertebral body abnormalities, and end- plate irregularity." []
xref: MedGen:C0265289
xref: MIM:156500 "phenotype"
[Term]
id: DI-02286
name: Schneckenbecken dysplasia
def: "A rare, lethal autosomal recessive skeletal dysplasia characterized by snail-like configuration of the hypoplastic iliac bone, short-limbed dwarfism, short ribs, and flattened, hypoplastic vertebral bodies. SHNKND is lethal in the neonatal period." []
synonym: "Chondrodysplasia, lethal neonatal, with snail-like pelvis" [UniProt]
xref: MedGen:C0432194
xref: MeSH:D010009
xref: MIM:269250 "phenotype"
[Term]
id: DI-02287
name: Schwannomatosis 1
def: "An autosomal dominant tumor predisposition syndrome characterized by the development of multiple benign nerve sheath tumors called schwannomas on cranial, spinal, and peripheral nerves, without involvement of the vestibular nerve. Affected individuals may also have multiple meningiomas." []
synonym: "Congenital cutaneous neurilemmomatosis" [UniProt]
synonym: "SWNTS1" [UniProt]
xref: MedGen:C1335929
xref: MeSH:D009442
xref: MIM:162091 "phenotype"
[Term]
id: DI-02288
name: Schwartz-Jampel syndrome
def: "Rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses and irregular epiphyses." []
xref: MedGen:C0036391
xref: MIM:255800 "phenotype"
[Term]
id: DI-02290
name: Sea-blue histiocyte disease
def: "Characterized by splenomegaly, mild thrombocytopenia and, in the bone marrow, numerous histiocytes containing cytoplasmic granules which stain bright blue with the usual hematologic stains. The syndrome is the consequence of an inherited metabolic defect analogous to Gaucher disease and other sphingolipidoses." []
synonym: "Sea-blue histiocytosis" [UniProt]
xref: MedGen:C0036489
xref: MIM:269600 "phenotype"
[Term]
id: DI-02292
name: Seborrhea-like dermatitis with psoriasiform elements
def: "Characterized by a chronic fine diffuse scaly erythematous rash on the face, particularly on the chin, nasolabial folds and eyebrows, around earlobes and over the scalp. The rash exacerbate in the winter, with emotional stress and after strenuous physical activity. Hyperkeratosis of skin over the elbows, knees, palms, soles and metacarpophalangeal joints is evident. There is no arthralgia, arthritis or neurological disorders." []
xref: MedGen:C1853258
xref: MIM:610227 "phenotype"
[Term]
id: DI-02293
name: Complement component C1s deficiency
def: "A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis." []
synonym: "C1s deficiency" [UniProt]
xref: MedGen:C0398755
xref: MedGen:C3151078
xref: MeSH:D007105
xref: MIM:613783 "phenotype"
[Term]
id: DI-02294
name: Selective pituitary thyroid hormone resistance
def: "Variant form of thyroid hormone resistance and is characterized by clinical hyperthyroidism, with elevated free thyroid hormones, but inappropriately normal serum TSH. Unlike GRTH, where the syndrome usually segregates with a dominant allele, the mode of inheritance in PRTH has not been established." []
synonym: "Familial hyperthyroidism due to inappropriate thyrotropin secretion" [UniProt]
xref: MedGen:C1840364
xref: MIM:145650 "phenotype"
[Term]
id: DI-02295
name: Immunodeficiency 48
def: "A form of severe immunodeficiency characterized by a selective absence of CD8+ T-cells." []
synonym: "Selective T-cell defect" [UniProt]
synonym: "STCD" [UniProt]
xref: MedGen:C1849236
xref: MedGen:C2931299
xref: MedGen:C3550707
xref: MeSH:D016511
xref: MIM:269840 "phenotype"
[Term]
id: DI-02296
name: Septooptic dysplasia
def: "A clinically heterogeneous disorder defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia with panhypopopituitarism, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum." []
synonym: "de Morsier syndrome" [UniProt]
synonym: "Septo-optic dysplasia with growth hormone deficiency" [UniProt]
xref: MedGen:C0338503
xref: MeSH:D025962
xref: MIM:182230 "phenotype"
[Term]
id: DI-02297
name: Severe combined immunodeficiency due to NHEJ1 deficiency
def: "SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. NHEJ1-SCID is characterized by a profound T- and B-lymphocytopenia associated with increased cellular sensitivity to ionizing radiation, microcephaly and growth retardation. Some patients may manifest SCID with sensitivity to ionizing radiation without microcephaly and mild growth retardation, probably due to hypomorphic NHEJ1 mutations." []
synonym: "Autosomal recessive T-cell-negative, B cell-negative, NK cell-positive, severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation" [UniProt]
synonym: "NHEJ1 syndrome" [UniProt]
xref: MedGen:C1969799
xref: MedGen:C1969800
xref: MIM:611291 "phenotype"
[Term]
id: DI-02299
name: Pituitary hormone deficiency, combined, 4
def: "Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD4 is characterized by complete or partial deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. Clinical features include short stature, cerebellar defects, and small sella turcica." []
synonym: "Pituitary hormone deficiency combined with or without cerebellar defects" [UniProt]
synonym: "Short stature pituitary and cerebellar defects and small sella turcica" [UniProt]
xref: MedGen:C2678408
xref: MeSH:D007018
xref: MIM:262700 "phenotype"
[Term]
id: DI-02300
name: Growth hormone insensitivity, partial
def: "A disease characterized by partial resistance to growth hormone resulting in short stature. Short stature is defined by a standing height more than 2 standard deviations below the mean (or below the 2.5 percentile) for sex and chronological age, compared with a well- nourished, healthy, genetically relevant population." []
synonym: "Isolated partial growth hormone deficiency" [UniProt]
synonym: "Partial IGHD" [UniProt]
xref: MedGen:C1858656
xref: MeSH:D004393
xref: MIM:604271 "phenotype"
[Term]
id: DI-02301
name: Acyl-CoA dehydrogenase short-chain deficiency
def: "An inborn error of mitochondrial fatty acid beta-oxidation resulting in acute acidosis and muscle weakness in infants, and a form of lipid- storage myopathy in adults." []
synonym: "ACADS deficiency" [UniProt]
synonym: "Lipid-storage myopathy secondary to short-chain acyl-CoA dehydrogenase deficiency" [UniProt]
synonym: "SCAD deficiency" [UniProt]
synonym: "SCADH deficiency" [UniProt]
xref: MedGen:C0342783
xref: MeSH:D008052
xref: MIM:201470 "phenotype"
[Term]
id: DI-02302
name: Short/branched-chain acyl-CoA dehydrogenase deficiency
def: "Autosomal recessive disorder and consists of a defect in catabolism of L-isoleucine which is characterized by an increase of 2- methylbutyrylglycine and 2-methylbutyrylcarnitine in blood and urine. Affected individuals have seizures and psychomotor delay as the main clinical features." []
synonym: "2-methylbutyryl glycinuria" [UniProt]
synonym: "2-methylbutyryl-CoA dehydrogenase deficiency" [UniProt]
xref: MedGen:C1864912
xref: MIM:610006 "phenotype"
[Term]
id: DI-02303
name: Shwachman-Diamond syndrome 1
def: "A form of Shwachman-Diamond syndrome, a disorder characterized by hematopoietic abnormalities, exocrine pancreatic dysfunction, and skeletal dysplasia. Intermittent or chronic neutropenia is the most common hematological manifestation, followed by anemia and thrombocytopenia. Some patients progress to bone marrow failure, myelodysplastic syndrome and malignant transformation, with acute myelogenous leukemia being the most common. Exocrine pancreatic dysfunction is generally the first presenting symptom in infancy. Short stature and metaphyseal dysplasia are the most frequent skeletal manifestations. SDS1 inheritance is autosomal recessive." []
xref: MedGen:C0272170
xref: MeSH:D001848
xref: MeSH:D006402
xref: MeSH:D010188
xref: MIM:260400 "phenotype"
[Term]
id: DI-02304
name: Sialidosis
def: "Lysosomal storage disease occurring as two types with various manifestations. Type 1 sialidosis (cherry red spot-myoclonus syndrome or normosomatic type) is late-onset and it is characterized by the formation of cherry red macular spots in childhood, progressive debilitating myoclonus, insiduous visual loss and rarely ataxia. The diagnosis can be confirmed by the screening of the urine for sialyloligosaccharides. Type 2 sialidosis (also known as dysmorphic type) occurs as several variants of increasing severity with earlier age of onset. It is characterized by the presence of abnormal somatic features including coarse facies and dysostosis multiplex, vertebral deformities, intellectual disability, cherry-red spot/myoclonus, sialuria, cytoplasmic vacuolation of peripheral lymphocytes, bone marrow cells and conjunctival epithelial cells." []
xref: MedGen:C0023806
xref: MedGen:C0268226
xref: MedGen:C0268228
xref: MedGen:C1850510
xref: MIM:256550 "phenotype"
[Term]
id: DI-02305
name: Sialuria
def: "In sialuria, free sialic acid accumulates in the cytoplasm and gram quantities of neuraminic acid are secreted in the urine. The metabolic defect involves lack of feedback inhibition of UDP-GlcNAc 2-epimerase by CMP-Neu5Ac, resulting in constitutive overproduction of free Neu5Ac. Clinical features include variable degrees of developmental delay, coarse facial features and hepatomegaly. Sialuria inheritance is autosomal dominant." []
synonym: "Sialuria French type" [UniProt]
xref: MedGen:C0342853
xref: MedGen:C2931471
xref: MIM:269921 "phenotype"
[Term]
id: DI-02306
name: Sickle cell disease
def: "Characterized by abnormally shaped red cells resulting in chronic anemia and periodic episodes of pain, serious infections and damage to vital organs. Normal red blood cells are round and flexible and flow easily through blood vessels, but in sickle cell anemia, the abnormal hemoglobin (called Hb S) causes red blood cells to become stiff. They are C-shaped and resembles a sickle. These stiffer red blood cells can led to microvascular occlusion thus cutting off the blood supply to nearby tissues." []
synonym: "Sickle cell anemia" [UniProt]
xref: MedGen:C0002895
xref: MIM:603903 "phenotype"
[Term]
id: DI-02307
name: Simpson-Golabi-Behmel syndrome 1
def: "A condition characterized by pre- and postnatal overgrowth (gigantism), facial dysmorphism and a variety of inconstant visceral and skeletal malformations. Characteristic dysmorphic features include macrocephaly with coarse, distinctive facies with a large protruding jaw, broad nasal bridge and cleft palate. Cardiac defects are frequent." []
synonym: "Bulldog syndrome" [UniProt]
synonym: "DGSX" [UniProt]
synonym: "Dysplasia gigantism syndrome X-linked" [UniProt]
synonym: "Golabi-Rosen syndrome" [UniProt]
synonym: "SDYS" [UniProt]
synonym: "Simpson dysmorphia syndrome" [UniProt]
xref: MedGen:C0796154
xref: MeSH:D001848
xref: MIM:312870 "phenotype"
[Term]
id: DI-02308
name: Sitosterolemia 1
def: "A form of sitosterolemia, an autosomal recessive metabolic disorder characterized by unregulated intestinal absorption of cholesterol, phytosterols and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease." []
synonym: "Phytosterolemia" [UniProt]
synonym: "Shellfish sterolemia" [UniProt]
xref: MedGen:C0342907
xref: MeSH:D008052
xref: MIM:210250 "phenotype"
[Term]
id: DI-02310
name: Skeletal defects, genital hypoplasia, and impaired intellectual development
def: "A disorder characterized by intellectual disability, craniofacial dysmorphism, microcephaly and short stature. Additional features include absence of the thumbs, hypoplasia of the radii and ulnae, additional vertebrae and ribs, retarded bone age and genital hypoplasia." []
xref: MedGen:C2676231
xref: MeSH:D008607
xref: MeSH:D009139
xref: MIM:612447 "phenotype"
[Term]
id: DI-02311
name: Slowed nerve conduction velocity
def: "Affected individuals present a reduction in nerve conduction velocities without any clinical signs of peripheral or central nervous system dysfunction. SNCV inheritance is autosomal dominant." []
xref: MedGen:C1842357
xref: MIM:608236 "phenotype"
[Term]
id: DI-02312
name: Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension
def: "An autosomal dominant bone disease characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami." []
synonym: "Coxopodopatellar syndrome" [UniProt]
synonym: "Ischiopatellar dysplasia" [UniProt]
synonym: "Patella aplasia, coxa vara, and tarsal synostosis" [UniProt]
synonym: "Scott-Taor syndrome" [UniProt]
synonym: "Small patella syndrome" [UniProt]
synonym: "SPS" [UniProt]
xref: MedGen:C1840061
xref: MeSH:D001848
xref: MIM:147891 "phenotype"
[Term]
id: DI-02313
name: Smith-Magenis syndrome
def: "Characterized by intellectual disability associated with development and growth delays. Affected persons have characteristic behavioral abnormalities, including self-injurious behaviors and sleep disturbance, and distinct craniofacial and skeletal anomalies." []
xref: MedGen:C0795864
xref: MedGen:C1866927
xref: MIM:182290 "phenotype"
[Term]
id: DI-02314
name: Snowflake vitreoretinal degeneration
def: "Developmental and progressive hereditary eye disorder that affects multiple tissues within the eye. Diagnostic features of SVD include fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment." []
xref: MedGen:C1860405
xref: MIM:193230 "phenotype"
[Term]
id: DI-02315
name: Intellectual developmental disorder, X-linked, syndromic, Snyder-Robinson type
def: "An X-linked intellectual disability syndrome characterized by a collection of clinical features including facial asymmetry, marfanoid habitus, hypertonia, osteoporosis and unsteady gait." []
synonym: "SRS" [UniProt]
xref: MedGen:C0796160
xref: MeSH:D038901
xref: MIM:309583 "phenotype"
[Term]
id: DI-02316
name: Solitary median maxillary central incisor
def: "Rare dental anomaly characterized by the congenital absence of one maxillary central incisor." []
xref: MedGen:C1840235
xref: MIM:147250 "phenotype"
[Term]
id: DI-02317
name: Sorsby fundus dystrophy
def: "Rare autosomal dominant macular disorder with an age of onset in the fourth decade. It is characterized by loss of central vision from subretinal neovascularization and atrophy of the ocular tissues. Generally, macular disciform degeneration develops in the patients eye within 6 months to 6 years." []
synonym: "Fundus dystrophy, pseudoinflammatory, of Sorsby" [UniProt]
synonym: "Macular dystrophy, hemorrhagic" [UniProt]
xref: MedGen:C1850938
xref: MeSH:D008268
xref: MIM:136900 "phenotype"
[Term]
id: DI-02318
name: Sotos syndrome
def: "An autosomal dominant, childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, intellectual disability, advanced bone age, and abnormal craniofacial morphology including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism, downslanting palpebral fissures, and facial flushing. Common oral findings include: premature eruption of teeth; high, arched palate; pointed chin and, more rarely, prognathism." []
synonym: "Cerebral gigantism" [UniProt]
synonym: "Chromosome 5q35 deletion syndrome" [UniProt]
synonym: "Sotos syndrome 1" [UniProt]
synonym: "SOTOS1" [UniProt]
xref: MedGen:C0175695
xref: MeSH:D058495
xref: MIM:117550 "phenotype"
[Term]
id: DI-02319
name: Spastic paraplegia 10, autosomal dominant
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body." []
xref: MedGen:C1858712
xref: MeSH:D015419
xref: MIM:604187 "phenotype"
[Term]
id: DI-02320
name: Speech-language disorder 1
def: "A disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech. Affected individuals have severe impairment in the selection and sequencing of fine orofacial movements which are necessary for articulation, and deficits in several facets of grammatical skills and language processing, such as the ability to break up words into their constituent phonemes." []
synonym: "Autosomal dominant speech and language disorder with orofacial dyspraxia" [UniProt]
synonym: "CAS" [UniProt]
synonym: "Childhood apraxia of speech" [UniProt]
synonym: "Developmental verbal dyspraxia" [UniProt]
synonym: "DVD" [UniProt]
xref: MedGen:C0750927
xref: MedGen:CN032592
xref: MeSH:D001072
xref: MeSH:D013064
xref: MIM:602081 "phenotype"
[Term]
id: DI-02321
name: Spherocytosis 1
def: "A form of spherocytosis, a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH1 is characterized by severe hemolytic anemia. Inheritance can be autosomal dominant or autosomal recessive. Patients with homozygous mutations have a more severe disorder." []
synonym: "Hereditary spherocytosis type 1" [UniProt]
synonym: "HS1" [UniProt]
xref: MedGen:C2674218
xref: MedGen:CN068423
xref: MeSH:D013103
xref: MIM:182900 "phenotype"
[Term]
id: DI-02322
name: Spherocytosis 2
def: "An autosomal dominant form of hereditary spherocytosis, a group of hematologic disorders characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Clinical manifestations include chronic hemolytic anemia, jaundice, and splenomegaly, with variable severity." []
synonym: "Hereditary spherocytosis type 2" [UniProt]
synonym: "HS2" [UniProt]
synonym: "Spherocytosis, hereditary, 2" [UniProt]
synonym: "Spherocytosis, type 2, autosomal dominant" [UniProt]
xref: MedGen:CN069761
xref: MeSH:D013103
xref: MIM:616649 "phenotype"
[Term]
id: DI-02323
name: Spherocytosis 3
def: "Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH3 is characterized by severe hemolytic anemia. Inheritance is autosomal recessive." []
synonym: "Hereditary spherocytosis type 3" [UniProt]
synonym: "HS3" [UniProt]
xref: MedGen:C2678338
xref: MIM:270970 "phenotype"
[Term]
id: DI-02324
name: Spherocytosis 4
def: "An autosomal dominant form of spherocytosis, a group of hematologic disorders characterized by the presence of numerous abnormally shaped erythrocytes which are generally spheroidal. Affected individuals have anemia, jaundice, and splenomegaly. Clinical severity is variable. Some individuals are asymptomatic, whereas others have severe hemolytic anemia requiring erythrocyte transfusion." []
synonym: "HS4" [UniProt]
synonym: "Spherocytosis, hereditary, 4" [UniProt]
synonym: "Spherocytosis, type 4" [UniProt]
xref: MedGen:C2675212
xref: MeSH:D013103
xref: MIM:612653 "phenotype"
[Term]
id: DI-02325
name: Spherocytosis 5
def: "Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Absence of band 4.2 associated with spur or target erythrocytes has also been reported." []
synonym: "Hereditary spherocytosis type 5" [UniProt]
synonym: "HS5" [UniProt]
xref: MedGen:C2675192
xref: MIM:612690 "phenotype"
[Term]
id: DI-02327
name: Split-hand/foot malformation 3
def: "A limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have intellectual disability, ectodermal and craniofacial findings, and orofacial clefting." []
synonym: "Chromosome 10q24 duplication syndrome" [UniProt]
synonym: "Limb deficiencies, distal, with micrognathia" [UniProt]
synonym: "SHSF3" [UniProt]
xref: MedGen:C1838652.
xref: MedGen:C1855500
xref: MeSH:D017880
xref: MIM:246560 "phenotype"
[Term]
id: DI-02328
name: Split-hand/foot malformation 4
def: "A limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have intellectual disability, ectodermal and craniofacial findings, and orofacial clefting." []
xref: MedGen:C1854442
xref: MeSH:D017880
xref: MIM:605289 "phenotype"
[Term]
id: DI-02329
name: Spondylocarpotarsal synostosis syndrome
def: "Disorder characterized by short stature and vertebral, carpal and tarsal fusions." []
synonym: "Congenital scoliosis with unilateral unsegmented bar" [UniProt]
synonym: "Congenital synspondylism" [UniProt]
synonym: "SCT" [UniProt]
synonym: "Spondylocarpotarsal syndrome" [UniProt]
synonym: "Vertebral fusion with carpal coalition" [UniProt]
xref: MedGen:C1848934
xref: MIM:272460 "phenotype"
[Term]
id: DI-02330
name: Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type
def: "An autosomal recessive bone disease characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, lumbar lordosis and normal hands. Skeletal abnormalities include short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, hypoplastic iliac bones and flat, ovoid vertebral bodies." []
synonym: "Matrilin-3 related SEMD" [UniProt]
synonym: "SEMD, matrilin-3 type" [UniProt]
synonym: "Spondylo-epi-metaphyseal dysplasia matrilin 3 type" [UniProt]
synonym: "Spondyloepimetaphyseal dysplasia bowed-legs type" [UniProt]
synonym: "Spondyloepimetaphyseal dysplasia matrilin-3 type" [UniProt]
synonym: "Spondylometaepiphyseal dysplasia matrilin-3 type" [UniProt]
xref: MedGen:C1837481
xref: MeSH:D001848
xref: MIM:608728 "phenotype"
[Term]
id: DI-02331
name: Brachyolmia type 4 with mild epiphyseal and metaphyseal changes
def: "A form of brachyolmia, a clinically and genetically heterogeneous skeletal dysplasia primarily affecting the spine and characterized by a short trunk, short stature, and platyspondyly. BCYM4 is an autosomal recessive form with mild epiphyseal and metaphyseal changes. Clinical features include short stature evidenced at birth, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints. Some BCYM4 patients may manifest premature pubarche and hyperandrogenism associated with skeletal dysplasia and short stature." []
synonym: "SEMD Pakistani type" [UniProt]
synonym: "Spondylodysplasia and premature pubarche" [UniProt]
synonym: "Spondylometaepiphyseal dysplasia Pakistani type" [UniProt]
xref: MedGen:C2748515
xref: MedGen:C2748516
xref: MeSH:D001848
xref: MIM:612847 "phenotype"
[Term]
id: DI-02332
name: Spondyloepimetaphyseal dysplasia, Missouri type
def: "A bone disease characterized by moderate to severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. Epimetaphyseal changes improve with age." []
synonym: "SEMD-MO" [UniProt]
synonym: "Spondyloepimetaphyseal dysplasia type 2" [UniProt]
synonym: "Spondyloepimetaphyseal dysplasia type Missouri" [UniProt]
synonym: "Spondylometaepiphyseal dysplasia type Missouri" [UniProt]
xref: MedGen:C1865832
xref: MeSH:D001848
xref: MIM:602111 "phenotype"
[Term]
id: DI-02333
name: Spondyloepiphyseal dysplasia congenital type
def: "Disorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems." []
xref: MedGen:C0038015
xref: MedGen:C2745959
xref: MIM:183900 "phenotype"
[Term]
id: DI-02335
name: Spondyloepiphyseal dysplasia tarda
def: "X-linked recessive disorder of endochondral bone formation." []
xref: MedGen:C0220776
xref: MedGen:C3541456
xref: MIM:313400 "phenotype"
[Term]
id: DI-02336
name: Spondyloepiphyseal dysplasia type Kimberley
def: "Spondyloepiphyseal dysplasias are a heterogeneous group of congenital chondrodysplasias that specifically affect epiphyses and vertebrae. The autosomal dominant SEDK is associated with premature degenerative arthropathy." []
xref: MedGen:C1842149
xref: MIM:608361 "phenotype"
[Term]
id: DI-02337
name: Spondyloperipheral dysplasia
def: "SPD patients manifest short stature, midface hypoplasia, sensorineural hearing loss, spondyloepiphyseal dysplasia, platyspondyly and brachydactyly." []
xref: MedGen:C0796173
xref: MIM:271700 "phenotype"
[Term]
id: DI-02338
name: Basal cell carcinoma
def: "A common malignant skin neoplasm that typically appears on hair- bearing skin, most commonly on sun-exposed areas. BCC is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter." []
synonym: "Multiple basal cell carcinoma" [UniProt]
synonym: "Non-syndromic basal cell carcinoma" [UniProt]
xref: MedGen:C1854245
xref: MedGen:C2751544
xref: MedGen:C2751545
xref: MeSH:D002280
xref: MIM:605462 "phenotype"
[Term]
id: DI-02339
name: Stapes ankylosis with broad thumb and toes
def: "An autosomal dominant disorder characterized by hyperopia, a hemicylindrical nose, broad thumbs, great toes, and other minor skeletal anomalies but lacked carpal and tarsal fusion and symphalangism." []
synonym: "Ankylosis of stapes, hyperopia, broad thumbs, broad first toes, and syndactyly" [UniProt]
synonym: "Stapes ankylosis syndrome without symphalangism" [UniProt]
synonym: "Teunissen-Cremers syndrome" [UniProt]
xref: MedGen:C1866656
xref: MeSH:D009140
xref: MIM:184460 "phenotype"
[Term]
id: DI-02341
name: Steatocystoma multiplex
def: "Disease characterized by round or oval cystic tumors widely distributed on the back, anterior trunk, arms, scrotum, and thighs." []
xref: MedGen:C0259771
xref: MIM:184500 "phenotype"
[Term]
id: DI-02342
name: Intellectual developmental disorder, X-linked, syndromic, Stocco dos Santos type
def: "A syndrome characterized by severe intellectual disability with hyperactivity, aggressive behavior, delayed or no speech, and seizures. Additional features include congenital bilateral hip luxation, short stature, and kyphosis." []
synonym: "Intellectual deficit X-linked Stocco Dos Santos type" [UniProt]
xref: MedGen:C1845530
xref: MeSH:D038901
xref: MIM:300434 "phenotype"
[Term]
id: DI-02343
name: Spondyloepimetaphyseal dysplasia, Strudwick type
def: "A bone disease characterized by disproportionate short stature from birth, with a very short trunk and shortened limbs, and skeletal abnormalities including lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses. A distinctive radiographic feature is irregular sclerotic changes, described as dappled in the metaphyses of the long bones." []
synonym: "Dappled metaphysis syndrome" [UniProt]
synonym: "SEMD, Strudwick type" [UniProt]
synonym: "SEMDC" [UniProt]
synonym: "SMD" [UniProt]
synonym: "SMED type 1" [UniProt]
synonym: "SMED type I" [UniProt]
synonym: "SMED, Strudwick type" [UniProt]
synonym: "Spondyloepiphyseal dysplasia congenita with dappled metaphyses" [UniProt]
synonym: "Spondylometaepiphyseal dysplasia congenita, Strudwick type" [UniProt]
synonym: "Spondylometaphyseal dysplasia" [UniProt]
synonym: "Strudwick syndrome" [UniProt]
xref: MedGen:C0700635
xref: MeSH:D001848
xref: MIM:184250 "phenotype"
[Term]
id: DI-02344
name: Stuve-Wiedemann syndrome 1
def: "A form of Stuve-Wiedemann syndrome, an autosomal recessive disease characterized by bowing of tubular bones and other skeletal and craniofacial abnormalities, respiratory distress, feeding difficulties, and hyperthermic episodes. Most patients do not survive past infancy." []
synonym: "Schwartz-Jampel syndrome type 2" [UniProt]
synonym: "Schwartz-Jampel syndrome, neonatal" [UniProt]
synonym: "SJS2" [UniProt]
synonym: "Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome" [UniProt]
synonym: "SWS" [UniProt]
xref: MedGen:C0796176
xref: MeSH:D010009
xref: MeSH:D054969
xref: MIM:601559 "phenotype"
[Term]
id: DI-02345
name: Succinic semialdehyde dehydrogenase deficiency
def: "A rare inborn error of 4-aminobutyric acid (GABA) metabolism, which leads to accumulation of 4-hydroxybutyric acid in physiologic fluids of patients. The disease is clinically characterized by developmental delay, hypotonia, intellectual disability, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances." []
synonym: "4-hydroxybutyric aciduria" [UniProt]
synonym: "GABA metabolic defect" [UniProt]
synonym: "Gamma-hydroxybutyric aciduria" [UniProt]
synonym: "SSADH deficiency" [UniProt]
synonym: "Succinate semialdehyde dehydrogenase deficiency" [UniProt]
xref: MedGen:C0268631
xref: MeSH:D000592
xref: MIM:271980 "phenotype"
[Term]
id: DI-02346
name: Sudden infant death with dysgenesis of the testes syndrome
def: "Autosomal recessive disorder. Affected infants appear normal at birth, develop signs of visceroautonomic dysfunction early in life, and die before 12 months of age of abrupt cardiorespiratory arrest. Features included bradycardia, hypothermia, severe gastroesophageal reflux, laryngospasm, bronchospasm, and abnormal cardiorespiratory patterns during sleep. Genotypic males with SIDDT had fetal testicular dysgenesis and ambiguous genitalia, with findings such as intraabdominal testes, dysplastic testes, deficient fetal testosterone production, fusion and rugation of the gonadal sac, and partial development of the penile shaft. Female sexual development was normal. Affected infants had an unusual staccato cry, similar to the cry of a goat." []
xref: MedGen:C1837371
xref: MIM:608800 "phenotype"
[Term]
id: DI-02347
name: Supravalvular aortic stenosis
def: "Congenital narrowing of the ascending aorta which can occur sporadically, as an autosomal dominant condition, or as one component of Williams-Beuren syndrome." []
xref: MedGen:C0003499
xref: MedGen:C2936909
xref: MIM:185500 "phenotype"
[Term]
id: DI-02349
name: Sveinsson chorioretinal atrophy
def: "Characterized by symmetrical lesions radiating from the optic disk involving the retina and the choroid." []
synonym: "AA" [UniProt]
synonym: "Atrophia areata" [UniProt]
synonym: "Helicoidal peripapillary chorioretinal degeneration" [UniProt]
synonym: "HPCD" [UniProt]
xref: MedGen:C1862382
xref: MIM:108985 "phenotype"
[Term]
id: DI-02350
name: Symphalangism, proximal 1A
def: "A disease characterized by the hereditary absence of the proximal interphalangeal joints. Distal interphalangeal joints are less frequently involved and metacarpophalangeal joints are rarely affected whereas carpal bone malformation and fusion are common. In the lower extremities, tarsal bone coalition is common. Conductive hearing loss is seen and is due to fusion of the stapes to the petrous part of the temporal bone." []
synonym: "Cushing symphalangism" [UniProt]
synonym: "Hereditary absence of the proximal interphalangeal joints" [UniProt]
synonym: "SYM1" [UniProt]
xref: MedGen:C1861385
xref: MeSH:D007592
xref: MIM:185800 "phenotype"
[Term]
id: DI-02351
name: Symptomatic deficiency in lactate transport
def: "Deficiency of lactate transporter may result in an acidic intracellular environment created by muscle activity with consequent degeneration of muscle and release of myoglobin and creatine kinase. This defect might compromise extreme performance in otherwise healthy individuals." []
synonym: "Erythrocyte lactate transporter defect" [UniProt]
xref: MedGen:C1855577
xref: MIM:245340 "phenotype"
[Term]
id: DI-02352
name: Syndactyly 3
def: "A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. In SDTY3, there is usually complete and bilateral syndactyly between the fourth and fifth fingers. Usually it is soft tissue syndactyly but occasionally the distal phalanges are fused. The fifth finger is short with absent or rudimentary middle phalanx. The feet are not affected." []
synonym: "Ring and little finger syndactyly" [UniProt]
synonym: "Syndactyly of fingers IV and V" [UniProt]
synonym: "Syndactyly type III" [UniProt]
xref: MedGen:C1861366
xref: MeSH:D013576
xref: MIM:186100 "phenotype"
[Term]
id: DI-02353
name: Syndactyly 4
def: "A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. SDTY4 is characterized by complete bilateral syndactyly (involving all digits 1 to 5). A frequent association with polydactyly (with six metacarpals and six digits) has been reported. Feet are affected occasionally." []
synonym: "Haas type syndactyly" [UniProt]
synonym: "Polysyndactyly Haas type" [UniProt]
synonym: "SD4" [UniProt]
synonym: "Syndactyly type IV" [UniProt]
xref: MedGen:C1861355
xref: MeSH:D013576
xref: MIM:186200 "phenotype"
[Term]
id: DI-02354
name: Syndactyly 5
def: "A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. The characteristic finding in SDTY5 is the presence of an associated metacarpal and metatarsal fusion. The metacarpals and metatarsals most commonly fused are the 4th and 5th or the 3rd and 4th. Soft tissue syndactyly usually affects the 3rd and 4th fingers and the 2nd and 3rd toes." []
synonym: "Syndactyly type V" [UniProt]
synonym: "Syndactyly with metacarpal and metatarsal fusion" [UniProt]
xref: MedGen:C1861348
xref: MeSH:D013576
xref: MIM:186300 "phenotype"
[Term]
id: DI-02355
name: Synpolydactyly 1
def: "Limb malformation that shows a characteristic manifestation in both hands and feet. This condition is inherited as an autosomal dominant trait with reduced penetrance." []
synonym: "SDYT2" [UniProt]
synonym: "Syndactyly type 2" [UniProt]
xref: MedGen:C1861367
xref: MedGen:C1861368
xref: MIM:186000 "phenotype"
[Term]
id: DI-02356
name: Systemic primary carnitine deficiency
def: "Autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. Present early in life with hypoketotic hypoglycemia and acute metabolic decompensation, or later in life with skeletal myopathy or cardiomyopathy." []
xref: MedGen:C0342788
xref: MIM:212140 "phenotype"
[Term]
id: DI-02357
name: T-cell immunodeficiency, congenital alopecia, and nail dystrophy
def: "A disorder characterized by the association of congenital alopecia, severe T-cell immunodeficiency, and ridging and pitting of all nails." []
synonym: "Pignata Guarino syndrome" [UniProt]
synonym: "Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy" [UniProt]
synonym: "Winged helix deficiency" [UniProt]
xref: MedGen:C1866426
xref: MeSH:D000505
xref: MeSH:D007153
xref: MeSH:D009260
xref: MIM:601705 "phenotype"
[Term]
id: DI-02358
name: Tardive tibial muscular dystrophy
def: "Autosomal dominant, late-onset distal myopathy. Muscle weakness and atrophy are usually confined to the anterior compartment of the lower leg, in particular the tibialis anterior muscle. Clinical symptoms usually occur at age 35-45 years or much later." []
synonym: "Udd myopathy" [UniProt]
xref: MedGen:C1838244
xref: MIM:600334 "phenotype"
[Term]
id: DI-02359
name: Tarsal-carpal coalition syndrome
def: "Autosomal dominant disorder characterized by fusion of the carpals, tarsals and phalanges, short first metacarpals causing brachydactyly, and humeroradial fusion. TCC is allelic to SYM1, and different mutations in NOG can result in either TCC or SYM1 in different families." []
xref: MedGen:C1861305
xref: MedGen:C1861306
xref: MIM:186570 "phenotype"
[Term]
id: DI-02362
name: Tetralogy of Fallot
def: "A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis." []
xref: MedGen:C0039685
xref: MeSH:D013771
xref: MIM:187500 "phenotype"
[Term]
id: DI-02363
name: Thanatophoric dysplasia 1
def: "A neonatal lethal skeletal dysplasia. Affected individuals manifest severe shortening of the limbs with macrocephaly, narrow thorax, short ribs, and curved femurs." []
synonym: "Lethal short-limbed platyspondylic dwarfism San Diego type" [UniProt]
synonym: "Platyspondylic lethal skeletal dysplasia San Diego type" [UniProt]
synonym: "Thanatophoric dwarfism" [UniProt]
synonym: "Thanatophoric dysplasia type I" [UniProt]
xref: MedGen:C1868678
xref: MedGen:C2674173
xref: MeSH:D013796
xref: MIM:187600 "phenotype"
[Term]
id: DI-02364
name: Cornea plana 2, autosomal recessive
def: "A severe form of cornea plana, a rare ocular disorder characterized by flattened corneal curvature leading to a decrease in refraction, reduced visual activity, hyperopia, hazy corneal limbus, opacities in the corneal parenchyma, and marked arcus senilis often detected at an early age. CNA2 patients manifest extreme hyperopia and additional ocular anomalies such as malformations of the iris, a slit-like pupil, and adhesions between iris and cornea." []
synonym: "Cornea plana congenita, recessive" [UniProt]
xref: MedGen:C1857574
xref: MeSH:D003316
xref: MIM:217300 "phenotype"
[Term]
id: DI-02365
name: Thiamine-responsive megaloblastic anemia syndrome
def: "An autosomal recessive disease characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke." []
synonym: "Megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness" [UniProt]
synonym: "Rogers syndrome" [UniProt]
synonym: "Thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type)" [UniProt]
synonym: "Thiamine-responsive anemia syndrome" [UniProt]
synonym: "Thiamine-responsive myelodysplasia" [UniProt]
synonym: "THMD1" [UniProt]
xref: MedGen:C0342287
xref: MeSH:D000749
xref: MeSH:D003920
xref: MeSH:D006319
xref: MIM:249270 "phenotype"
[Term]
id: DI-02368
name: Thyrotoxic periodic paralysis 1
def: "A sporadic muscular disorder characterized by episodic weakness and hypokalemia during a thyrotoxic state. It is clinically similar to hereditary hypokalemic periodic paralysis, except for the fact that hyperthyroidism is an absolute requirement for disease manifestation. The disease presents with recurrent episodes of acute muscular weakness of the four extremities that vary in severity from paresis to complete paralysis. Attacks are triggered by ingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodic paralysis can occur in association with any cause of hyperthyroidism, but is most commonly associated with Graves disease." []
synonym: "Thyrotoxic hypokalemic periodic paralysis" [UniProt]
synonym: "TPP" [UniProt]
xref: MedGen:C0268446
xref: MedGen:C2749982
xref: MeSH:D010245
xref: MIM:188580 "phenotype"
[Term]
id: DI-02369
name: Tietz albinism-deafness syndrome
def: "An autosomal dominant disorder characterized by generalized hypopigmentation and congenital, bilateral, profound sensorineural deafness." []
synonym: "Albinism-deafness of Tietz" [UniProt]
synonym: "Hypopigmentation/deafness of Tietz" [UniProt]
synonym: "Tietz syndrome" [UniProt]
xref: MedGen:C0391816
xref: MeSH:D003638
xref: MeSH:D016115
xref: MIM:103500 "phenotype"
[Term]
id: DI-02370
name: Timothy syndrome
def: "Disorder characterized by multiorgan dysfunction including lethal arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities and autism." []
synonym: "Long QT syndrome with syndactyly" [UniProt]
xref: MedGen:C1832916
xref: MeSH:D008133
xref: MeSH:D013576
xref: MIM:601005 "phenotype"
[Term]
id: DI-02371
name: Immunodeficiency 83, susceptibility to viral infections
def: "An immunologic disorder characterized by increased susceptibility to severe viral infections, including herpes simplex virus (HSV), varicella zoster virus (VZV), influenza A virus (IAV), hantavirus, and possibly respiratory syncytial virus (RSV). IMD83 clinical manifestations include acute infection-induced encephalitis and pneumonitis. The susceptibility to encephalitis or pneumonitis appears to result from impaired TLR3-dependent interferon production by nonhematopoietic cells that reside within the central nervous system or lung epithelial cells. IMD83 transmission pattern is consistent with autosomal dominant or autosomal recessive inheritance with incomplete penetrance." []
synonym: "Encephalopathy, acute, infection-induced, 2" [UniProt]
synonym: "Encephalopathy, acute, infection-induced, 2, herpes-specific" [UniProt]
synonym: "Herpes simplex encephalitis 2" [UniProt]
synonym: "HSE2" [UniProt]
synonym: "IIAE2" [UniProt]
synonym: "Infection-induced acute encephalopathy 2" [UniProt]
synonym: "TLR3-deficient herpes simplex encephalitis" [UniProt]
xref: MedGen:C2751803
xref: MeSH:D020803
xref: MIM:613002 "phenotype"
[Term]
id: DI-02372
name: Tn polyagglutination syndrome
def: "A clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia. However, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders." []
synonym: "Galactosyltransferase deficiency" [UniProt]
synonym: "Tn syndrome" [UniProt]
xref: MedGen:C0272137
xref: MeSH:D006402
xref: MIM:300622 "phenotype"
[Term]
id: DI-02373
name: Toe syndactyly, telecanthus, and anogenital and renal malformations
def: "A syndrome characterized by anal, genital and renal tract anomalies, facial dysmorphism and syndactyly. Features include anal stenosis, a rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, toe syndactyly, and telecanthus." []
synonym: "STAR syndrome" [UniProt]
synonym: "Syndactyly with renal and anogenital malformations" [UniProt]
xref: MedGen:C2678045
xref: MeSH:D013576
xref: MeSH:D014564
xref: MIM:300707 "phenotype"
[Term]
id: DI-02374
name: Multicentric osteolysis, nodulosis, and arthropathy
def: "An autosomal recessive syndrome characterized by severe multicentric osteolysis with predominant involvement of the hands and feet. Additional features include coarse face, corneal opacities, patches of thickened, hyperpigmented skin, hypertrichosis and gum hypertrophy." []
synonym: "Al-Aqeel Sewairi syndrome" [UniProt]
synonym: "Hereditary multicentric osteolysis" [UniProt]
synonym: "NAO syndrome" [UniProt]
synonym: "Nodulosis-arthropathy-osteolysis syndrome" [UniProt]
synonym: "Torg syndrome" [UniProt]
synonym: "Torg-Winchester syndrome" [UniProt]
xref: MedGen:C1850155
xref: MeSH:D010014
xref: MIM:259600 "phenotype"
[Term]
id: DI-02375
name: Total anomalous pulmonary venous return
def: "Rare congenital heart disease (CHD) in which the pulmonary veins fail to connect to the left atrium during cardiac development, draining instead into either the right atrium or one of its venous tributaries. This disease accounts for 1.5% of all CHDs and has a prevalence of approximately 1 out of 15'000 live births." []
xref: MedGen:C0036400
xref: MIM:106700 "phenotype"
[Term]
id: DI-02376
name: Townes-Brocks syndrome 1
def: "A form of Townes-Brocks syndrome, a rare autosomal dominant disease characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease." []
synonym: "Anus, imperforate, with hand, foot, and ear anomalies" [UniProt]
synonym: "Deafness, sensorineural, with imperforate anus and thumb anomalies" [UniProt]
synonym: "Rear syndrome" [UniProt]
synonym: "Renal-ear-anal-radial syndrome" [UniProt]
synonym: "Townes-Brocks branchiootorenal-like syndrome" [UniProt]
xref: MedGen:C0265246
xref: MedGen:C1862683
xref: MeSH:D000015
xref: MIM:107480 "phenotype"
[Term]
id: DI-02377
name: Transaldolase deficiency
def: "An inborn error of the pentose phosphate pathway resulting in early- onset multisystem disease. Clinical features include growth retardation, dysmorphic features, cutis laxa, congenital heart disease, hepatosplenomegaly, telangiectases of the skin, pancytopenia, and bleeding tendency." []
synonym: "Eyaid syndrome" [UniProt]
synonym: "TALDO deficiency" [UniProt]
xref: MedGen:C1291329
xref: MeSH:D002239
xref: MIM:606003 "phenotype"
[Term]
id: DI-02378
name: Transcobalamin II deficiency
def: "An autosomal recessive disorder manifesting in early infancy and characterized by failure to thrive, megaloblastic anemia, pancytopenia, and agammaglobulinemia. Additional features include methylmalonic aciduria, recurrent infections, vomiting and diarrhea. TCN2D may be accompanied by neurological complications, including psychomotor and mental developmental delay, if untreated." []
synonym: "TC II deficiency" [UniProt]
synonym: "TCN2 deficiency" [UniProt]
xref: MedGen:C0342701
xref: MeSH:D008661
xref: MIM:275350 "phenotype"
[Term]
id: DI-02379
name: Transient familial neonatal hyperbilirubinemia
def: "A condition characterized by excessive concentration of bilirubin in the blood, which may lead to jaundice. Breast milk jaundice is a common problem in nursing infants." []
synonym: "Lucey-Driscoll syndrome" [UniProt]
xref: MedGen:C0270210
xref: MedGen:C0270215
xref: MedGen:C1855967
xref: MIM:237900 "phenotype"
[Term]
id: DI-02380
name: Diabetes mellitus, transient neonatal, 1
def: "An autosomal dominant form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first month of life. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes." []
synonym: "6q24-related diabetes mellitus" [UniProt]
xref: MedGen:C1832386
xref: MeSH:D003920
xref: MIM:601410 "phenotype"
[Term]
id: DI-02381
name: Transient neonatal diabetes mellitus 2
def: "Neonatal diabetes is a form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first months of life. Transient neonatal diabetes remits early, with a possible relapse during adolescence." []
xref: MedGen:C1835887
xref: MIM:610374 "phenotype"
[Term]
id: DI-02382
name: Transient neonatal diabetes mellitus 3
def: "Neonatal diabetes mellitus, defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes. In a significant number of patients with transient neonatal diabetes mellitus, diabetes type 2 appears later in life. The onset and severity of TNDM3 is variable with childhood-onset diabetes, gestational diabetes or adult-onset diabetes described." []
xref: MedGen:C1864623
xref: MIM:610582 "phenotype"
[Term]
id: DI-02383
name: Transposition of the great arteries dextro-looped 1
def: "A congenital heart defect consisting of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. The presence or absence of associated cardiac anomalies defines the clinical presentation and surgical management of patients with transposition of the great arteries." []
synonym: "D-TGA" [UniProt]
xref: MedGen:C1837341
xref: MeSH:D014188
xref: MIM:608808 "phenotype"
[Term]
id: DI-02384
name: Treacher Collins syndrome 1
def: "A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss." []
synonym: "Mandibulofacial dysostosis" [UniProt]
synonym: "MFD1" [UniProt]
synonym: "TCOF" [UniProt]
synonym: "TCS" [UniProt]
synonym: "Treacher Collins syndrome" [UniProt]
synonym: "Treacher Collins-Franceschetti syndrome" [UniProt]
xref: MedGen:C0242387
xref: MedGen:CN119605
xref: MeSH:D008342
xref: MIM:154500 "phenotype"
[Term]
id: DI-02385
name: Tricho-rhino-phalangeal syndrome 1
def: "Autosomal dominant disorder characterized by craniofacial and skeletal abnormalities. It is allelic with tricho-rhino-phalangeal type 3. Typical features include sparse scalp hair, a bulbous tip of the nose, protruding ears, a long flat philtrum and a thin upper vermilion border. Skeletal defects include cone-shaped epiphyses at the phalanges, hip malformations and short stature." []
synonym: "Trichorhinophalangeal syndrome type I" [UniProt]
xref: MedGen:C0432233
xref: MIM:190350 "phenotype"
[Term]
id: DI-02386
name: Tricho-rhino-phalangeal syndrome 3
def: "Autosomal dominant disorder characterized by craniofacial and skeletal abnormalities. It is allelic with tricho-rhino-phalangeal type 1. In TRPS3 a more severe brachydactyly and growth retardation are observed." []
synonym: "Trichorhinophalangeal syndrome type III" [UniProt]
xref: MedGen:C1860823
xref: MIM:190351 "phenotype"
[Term]
id: DI-02387
name: Trichodentoosseous syndrome
def: "An autosomal dominant disease characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology." []
synonym: "TDO syndrome" [UniProt]
xref: MedGen:C0265333
xref: MeSH:D006201
xref: MeSH:D014071
xref: MeSH:D019465
xref: MIM:190320 "phenotype"
[Term]
id: DI-02388
name: Mitochondrial trifunctional protein deficiency 1
def: "An autosomal recessive metabolic disorder of long-chain fatty acid oxidation, biochemically characterized by loss of all enzyme activities of the mitochondrial trifunctional protein complex. The disease phenotype ranges from a fatal form characterized by early- onset cardiomyopathy, cardiac failure and early death to less severe, late-onset forms with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy as key features." []
synonym: "Trifunctional protein deficiency" [UniProt]
synonym: "Trifunctional protein deficiency with myopathy and neuropathy" [UniProt]
xref: MedGen:C0342786
xref: MedGen:C1969443
xref: MeSH:D008052
xref: MeSH:D017240
xref: MIM:609015 "phenotype"
[Term]
id: DI-02389
name: Trimethylaminuria
def: "Inborn error of metabolism associated with an offensive body odor and caused by deficiency of FMO-mediated N-oxidation of amino- trimethylamine (TMA) derived from foodstuffs. Affected individuals excrete relatively large amounts of TMA in their urine, sweat, and breath, and exhibit a fishy body odor characteristic of the malodorous free amine." []
synonym: "Fish-odor syndrome" [UniProt]
synonym: "MeSH; D008661" [UniProt]
xref: MedGen:C0342739
xref: MIM:602079 "phenotype"
[Term]
id: DI-02390
name: Triosephosphate isomerase deficiency
def: "An autosomal recessive multisystem disorder characterized by congenital hemolytic anemia, progressive neuromuscular dysfunction, susceptibility to bacterial infection, and cardiomyopathy." []
synonym: "Hemolytic anemia due to triosephosphate isomerase deficiency" [UniProt]
xref: MedGen:C1860808
xref: MeSH:D000745
xref: MeSH:D008661
xref: MIM:615512 "phenotype"
[Term]
id: DI-02391
name: Triphalangeal thumb with polysyndactyly
def: "Autosomal dominant syndrome. It is characterized by a wide spectrum of pre- and post-axial abnormalities due to altered SHH expression pattern during limb development." []
synonym: "Triphalangeal thumb-polysyndactyly syndrome" [UniProt]
xref: MedGen:C0241397
xref: MIM:190605 "phenotype"
[Term]
id: DI-02392
name: Arthrogryposis, distal, 7
def: "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA7 is characterized by an inability to open the mouth fully (trismus) and pseudocamptodactyly in which wrist dorsiflexion, but not volarflexion, produces involuntary flexion contracture of distal and proximal interphalangeal joints. Additional features include shortened hamstring muscles and short stature." []
synonym: "Dutch-Kentucky syndrome" [UniProt]
synonym: "Hecht syndrome" [UniProt]
synonym: "Trismus-pseudocamptodactyly syndrome" [UniProt]
xref: MedGen:C0265226
xref: MeSH:D001176
xref: MIM:158300 "phenotype"
[Term]
id: DI-02393
name: Tritan color blindness
def: "A disorder of vision characterized by a selective deficiency of blue spectral sensitivity." []
synonym: "Blue colorblindness" [UniProt]
synonym: "Tritanopia" [UniProt]
xref: MedGen:C0155017
xref: MeSH:D003117
xref: MIM:190900 "phenotype"
[Term]
id: DI-02394
name: Tropical calcific pancreatitis
def: "Idiopathic, juvenile, nonalcoholic form of chronic pancreatitis widely prevalent in several tropical countries. It can be associated with fibrocalculous pancreatic diabetes (FCPD) depending on both environmental and genetic factors. TCP differs from alcoholic pancreatitis by a much younger age of onset, pancreatic calcification, a high incidence of insulin dependent but ketosis resistant diabetes mellitus, and an exceptionally high incidence of pancreatic cancer." []
xref: MedGen:C1842402
xref: MIM:608189 "phenotype"
[Term]
id: DI-02395
name: 46,XX sex reversal 1
def: "A condition in which male gonads develop in a genetic female (female to male sex reversal)." []
synonym: "46,XX gonadal dysgenesis complete SRY-positive" [UniProt]
synonym: "46,XX sex reversal SRY-positive" [UniProt]
synonym: "46,XX testicular disorder of sex development" [UniProt]
synonym: "46,XX true hermaphroditism SRY-positive" [UniProt]
synonym: "Ovotesticular disorder of sex development" [UniProt]
synonym: "Ovotesticular DSD" [UniProt]
synonym: "XX male SRY-positive" [UniProt]
xref: MedGen:C2748895
xref: MedGen:C3495659
xref: MeSH:D023961
xref: MeSH:D050090
xref: MIM:400045 "phenotype"
[Term]
id: DI-02396
name: Neurofibromatosis 1
def: "A disease characterized by patches of skin pigmentation (cafe-au-lait spots), Lisch nodules of the iris, tumors in the peripheral nervous system and fibromatous skin tumors. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors." []
synonym: "Neurofibromatosis peripheral type" [UniProt]
synonym: "Von Recklinghausen disease" [UniProt]
synonym: "von Recklinghausen syndrome" [UniProt]
xref: MedGen:C0027831
xref: MeSH:D009456
xref: MIM:162200 "phenotype"
[Term]
id: DI-02397
name: Polydactyly, postaxial A1
def: "A condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal." []
synonym: "PAPA" [UniProt]
synonym: "Postaxial polydactyly" [UniProt]
synonym: "Postaxial polydactyly type A" [UniProt]
xref: MedGen:C0220697
xref: MeSH:D017689
xref: MIM:174200 "phenotype"
[Term]
id: DI-02398
name: Rickets vitamin D-dependent 2A
def: "A disorder of vitamin D metabolism resulting in severe rickets, hypocalcemia and secondary hyperparathyroidism. Most patients have total alopecia in addition to rickets." []
synonym: "Generalized resistance to 1,25-dihydroxyvitamin D" [UniProt]
synonym: "HVDRR" [UniProt]
synonym: "Hypocalcemic vitamin D-resistant rickets" [UniProt]
synonym: "PDDR IIA" [UniProt]
synonym: "Pseudovitamin D-deficiency type IIA" [UniProt]
synonym: "Rickets hereditary vitamin D-resistant" [UniProt]
synonym: "Rickets-alopecia syndrome" [UniProt]
synonym: "Type IIA rickets" [UniProt]
synonym: "Vitamin D-dependent rickets type 2A with or without alopecia" [UniProt]
synonym: "Vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol" [UniProt]
xref: MedGen:C0268690
xref: MedGen:C0342646
xref: MedGen:C0342647
xref: MeSH:D012279
xref: MIM:277440 "phenotype"
[Term]
id: DI-02399
name: Type IIb congenital disorder of glycosylation
def: "Characterized by marked generalized hypotonia and hypomotility of the neonate, dysmorphic features, including a prominent occiput, short palpebral fissures, retrognathia, high arched palate, generalized edema, and hypoplastic genitalia. Symptoms of the infant included hepatomegaly, hypoventilation, feeding problems and seizures. The clinical course was progressive and the infant did not survive more than a few months." []
synonym: "Glucosidase I deficiency" [UniProt]
xref: MedGen:C1853736
xref: MIM:606056 "phenotype"
[Term]
id: DI-02401
name: Polydactyly, preaxial 4
def: "A form of polydactyly, a condition defined by the occurrence of supernumerary digits in the upper and/or lower extremities. Preaxial or radial polydactyly refers to the presence of extra digits on the radial side of the hand. PPD4 is an autosomal dominant form characterized by mild duplication of the thumb, syndactyly of various degrees affects fingers 3 and 4, duplication of part or all of the first or second toes and variable toes syndactyly. Some patients have only foot involvement." []
synonym: "Polysyndactyly, uncomplicated" [UniProt]
synonym: "Type IV preaxial polydactyly" [UniProt]
xref: MedGen:C1868111
xref: MedGen:C1868112
xref: MeSH:D017689
xref: MIM:174700 "phenotype"
[Term]
id: DI-02402
name: Ubiquitin-positive frontotemporal dementia
def: "Frontotemporal dementia (FTD) is the second most common cause of dementia in people under the age of 65 years. It is an autosomal dominant neurodegenerative disease." []
synonym: "Tau-negative frontotemporal dementia linked to chromosome 17" [UniProt]
xref: MedGen:C0282513
xref: MedGen:C1843792
xref: MIM:607485 "phenotype"
[Term]
id: DI-02404
name: Ulnar-mammary syndrome
def: "Characterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands." []
xref: MedGen:C1866994
xref: MIM:181450 "phenotype"
[Term]
id: DI-02405
name: Urocanase deficiency
def: "An inborn error of histidine metabolism resulting in urocanic aciduria and neurological manifestations including intellectual disability, ataxia, episodic aggressive behavior or exaggerated affection-seeking." []
synonym: "Encephalopathy due to urocanase deficiency" [UniProt]
xref: MedGen:C0268514
xref: MeSH:D000592
xref: MIM:276880 "phenotype"
[Term]
id: DI-02406
name: Usher syndrome 2D
def: "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses." []
xref: MedGen:C1568249
xref: MeSH:D052245
xref: MIM:611383 "phenotype"
[Term]
id: DI-02407
name: UV-sensitive syndrome 1
def: "An autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors." []
xref: MedGen:C1833561
xref: MedGen:C3551173
xref: MeSH:D052245
xref: MIM:600630 "phenotype"
[Term]
id: DI-02408
name: VACTERL association with hydrocephalus
def: "VACTERL is an acronym for vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects." []
xref: MedGen:C1848599
xref: MedGen:C1848600
xref: MedGen:C2749240
xref: MIM:276950 "phenotype"
[Term]
id: DI-02410
name: Velocardiofacial syndrome
def: "A syndrome characterized by abnormal pharyngeal arch development that results in defective development of the parathyroid glands, thymus, and conotruncal region of the heart. The phenotype is highly variable, with no single clinical feature present in every patient. Affected individuals may present with structural or functional palatal abnormalities, cardiac defects, unique facial characteristics, hypernasal speech, hypotonia, and defective thymic development associated with impaired immune function. In addition, affected individuals may present with learning disabilities, overt developmental delay, and psychiatric disorders." []
synonym: "Chromosome 22q11.2 deletion syndrome" [UniProt]
synonym: "Shprintzen VCF syndrome" [UniProt]
synonym: "VCF syndrome" [UniProt]
synonym: "Velo-cardio-facial syndrome" [UniProt]
xref: MedGen:C0220704
xref: MeSH:D004062
xref: MIM:192430 "phenotype"
[Term]
id: DI-02411
name: Acyl-CoA dehydrogenase very long-chain deficiency
def: "An inborn error of mitochondrial fatty acid beta-oxidation which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form characterized by early onset, high mortality and high incidence of cardiomyopathy; a milder childhood form with later onset, characterized by hypoketotic hypoglycemia, low mortality and rare cardiomyopathy; an adult form, with isolated skeletal muscle involvement, rhabdomyolysis and myoglobinuria, usually triggered by exercise or fasting." []
synonym: "ACADL deficiency" [UniProt]
synonym: "Acyl-CoA dehydrogenase long-chain deficiency" [UniProt]
synonym: "LCAD deficiency" [UniProt]
synonym: "VLCAD deficiency" [UniProt]
xref: MedGen:C0342784
xref: MeSH:D008052
xref: MIM:201475 "phenotype"
[Term]
id: DI-02412
name: Vesicoureteral reflux 2
def: "A disease belonging to the group of congenital anomalies of the kidney and urinary tract. It is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys, and is a risk factor for urinary tract infections. Primary disease results from a developmental defect of the ureterovesical junction. In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy. Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, renal insufficiency and end-stage renal disease." []
xref: MedGen:C1970483
xref: MeSH:D014718
xref: MIM:610878 "phenotype"
[Term]
id: DI-02413
name: Heterotaxy, visceral, 2, autosomal
def: "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations." []
xref: MedGen:C1854334
xref: MeSH:D059446
xref: MIM:605376 "phenotype"
[Term]
id: DI-02414
name: Rickets vitamin D-dependent 1A
def: "A disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets." []
synonym: "1-alpha 25-hydroxyvitamin D3 deficiency selective" [UniProt]
synonym: "1-alpha-hydroxylase deficiency" [UniProt]
synonym: "25-hydroxycholecalciferol-1-hydroxylase deficiency" [UniProt]
synonym: "PDDR" [UniProt]
synonym: "PDDR IA" [UniProt]
synonym: "PDDR1A" [UniProt]
synonym: "Pseudovitamin D deficiency rickets" [UniProt]
synonym: "Pseudovitamin D-deficiency rickets type IA" [UniProt]
synonym: "VDD1" [UniProt]
synonym: "Vitamin D dependency type 1" [UniProt]
xref: MedGen:C0268689
xref: MeSH:D012279
xref: MIM:264700 "phenotype"
[Term]
id: DI-02415
name: von Willebrand disease, platelet-type
def: "An autosomal dominant bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor by the platelet glycoprotein Ib (GP Ib) receptor complex. Hemostatic function is impaired due to the removal of VWF multimers from the circulation." []
synonym: "BDPLT3" [UniProt]
synonym: "Bleeding disorder platelet-type 3" [UniProt]
synonym: "Pseudo-von Willebrand disease" [UniProt]
synonym: "Pseudo-vWD" [UniProt]
xref: MedGen:C1280798
xref: MeSH:D014842
xref: MIM:177820 "phenotype"
[Term]
id: DI-02416
name: Wagner vitreoretinopathy
def: "A rare vitreoretinopathy characterized by an optically empty vitreous cavity with fibrillary condensations and a preretinal avascular membrane. Other optical features include progressive chorioretinal atrophy, perivascular sheating, subcapsular cataract and myopia." []
synonym: "Erosive vitreoretinopathy" [UniProt]
synonym: "ERVR" [UniProt]
synonym: "Hyaloideoretinal degeneration of Wagner" [UniProt]
synonym: "Wagner syndrome 1" [UniProt]
synonym: "Wagner vitreoretinal degeneration" [UniProt]
synonym: "WGN1" [UniProt]
xref: MedGen:C0339540
xref: MedGen:C1840452
xref: MeSH:D012162
xref: MIM:143200 "phenotype"
[Term]
id: DI-02418
name: Warburg micro syndrome 1
def: "A rare, autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe intellectual disability, spastic diplegia, and hypogonadism." []
synonym: "Micro syndrome" [UniProt]
synonym: "WARBM" [UniProt]
synonym: "Warburg micro syndrome" [UniProt]
xref: MedGen:C1838625
xref: MeSH:D000015
xref: MIM:600118 "phenotype"
[Term]
id: DI-02419
name: WHIM syndrome 1
def: "An autosomal dominant immunologic disease characterized by neutropenia, hypogammaglobulinemia and extensive human papillomavirus (HPV) infection. Despite the peripheral neutropenia, bone marrow aspirates from affected individuals contain abundant mature myeloid cells, a condition termed myelokathexis." []
synonym: "Warts, hypogammaglobulinemia, infections and myelokathexis syndrome 1" [UniProt]
synonym: "WHIMS" [UniProt]
xref: MedGen:C0472817
xref: MeSH:D000081207
xref: MIM:193670 "phenotype"
[Term]
id: DI-02420
name: White sponge nevus 1
def: "A rare disorder characterized by the presence of soft, white, and spongy plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Less frequently the mucous membranes of the nose, esophagus, genitalia and rectum are involved." []
synonym: "Hereditary mucosal leukokeratosis" [UniProt]
synonym: "White sponge nevus of Cannon" [UniProt]
xref: MedGen:C1721005
xref: MeSH:D053529
xref: MIM:193900 "phenotype"
[Term]
id: DI-02421
name: Wilms tumor 1
def: "Embryonal malignancy of the kidney that affects approximately 1 in 10'000 infants and young children. It occurs both in sporadic and hereditary forms." []
xref: MedGen:C0027708
xref: MIM:194070 "phenotype"
[Term]
id: DI-02423
name: Wolfram syndrome 2
def: "A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses. WFS2 patients additionally show a strong bleeding tendency and gastrointestinal ulceration. Diabetes insipidus may be absent." []
xref: MedGen:C1858028
xref: MeSH:D014929
xref: MIM:604928 "phenotype"
[Term]
id: DI-02424
name: Woodhouse-Sakati syndrome
def: "A rare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome." []
xref: MedGen:C0342286
xref: MIM:241080 "phenotype"
[Term]
id: DI-02425
name: Wrinkly skin syndrome
def: "A rare autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple musculoskeletal abnormalities, microcephaly, growth failure and developmental delay." []
xref: MedGen:C0406587
xref: MeSH:D003483
xref: MIM:278250 "phenotype"
[Term]
id: DI-02426
name: Adrenal hypoplasia, congenital
def: "A disorder of adrenal gland development characterized by absence of the permanent zone of the adrenal cortex, structural disorganization of the adrenal glands, adrenal insufficiency and profound hormonal deficiencies. AHC patients manifest primary adrenal failure usually in early infancy, and hypogonadotropic hypogonadism leading to absent or incomplete sexual maturation. AHC can be inherited in an X-linked or autosomal recessive pattern." []
synonym: "Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism" [UniProt]
synonym: "AHC with HHG" [UniProt]
synonym: "AHC with isolated gonadotropin deficiency" [UniProt]
synonym: "AHCH" [UniProt]
synonym: "AHX" [UniProt]
synonym: "Cytomegalic adrenocortical hypoplasia" [UniProt]
synonym: "X-linked Addison disease" [UniProt]
synonym: "X-linked adrenal hypoplasia congenital" [UniProt]
xref: MedGen:C0220766
xref: MedGen:C0342482
xref: MedGen:C1846220
xref: MedGen:C1846221
xref: MeSH:D000309
xref: MIM:300200 "phenotype"
[Term]
id: DI-02427
name: X-linked agammaglobulinemia
def: "Humoral immunodeficiency disease which results in developmental defects in the maturation pathway of B-cells. Affected boys have normal levels of pre-B-cells in their bone marrow but virtually no circulating mature B-lymphocytes. This results in a lack of immunoglobulins of all classes and leads to recurrent bacterial infections like otitis, conjunctivitis, dermatitis, sinusitis in the first few years of life, or even some patients present overwhelming sepsis or meningitis, resulting in death in a few hours. Treatment in most cases is by infusion of intravenous immunoglobulin." []
synonym: "AGMX1" [UniProt]
synonym: "IMD1" [UniProt]
synonym: "Immunodeficiency type 1" [UniProt]
synonym: "X-linked agammaglobulinemia type 1" [UniProt]
xref: MedGen:C0221026
xref: MedGen:C0241932
xref: MIM:300755 "phenotype"
[Term]
id: DI-02428
name: Alpha-thalassemia/impaired intellectual development syndrome, X-linked
def: "A disorder characterized by severe psychomotor retardation, facial dysmorphism, urogenital abnormalities, and alpha-thalassemia. An essential phenotypic trait are hemoglobin H erythrocyte inclusions." []
synonym: "ATR nondeletion type" [UniProt]
synonym: "ATR-X" [UniProt]
synonym: "ATR-X syndrome" [UniProt]
xref: MedGen:C1845055
xref: MeSH:D038901
xref: MIM:301040 "phenotype"
[Term]
id: DI-02431
name: Autism, X-linked 1
def: "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability." []
synonym: "Asperger syndrome, X-linked, 1" [UniProt]
synonym: "ASPGX1" [UniProt]
xref: MedGen:C1845540
xref: MeSH:D001321
xref: MIM:300425 "phenotype"
[Term]
id: DI-02432
name: Autism, X-linked 2
def: "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability." []
synonym: "Asperger syndrome, X-linked, 2" [UniProt]
synonym: "ASPGX2" [UniProt]
synonym: "Intellectual developmental disorder, X-linked" [UniProt]
xref: MedGen:C1845539
xref: MeSH:D001321
xref: MIM:300495 "phenotype"
[Term]
id: DI-02433
name: Autism, X-linked 3
def: "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability." []
xref: MedGen:C1845336
xref: MeSH:D001321
xref: MIM:300496 "phenotype"
[Term]
id: DI-02435
name: Reducing body myopathy, X-linked 1B, with late childhood or adult onset
def: "A rare myopathy clinically characterized by rapidly progressive muscular weakness, and pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies." []
xref: MedGen:C2678015
xref: MeSH:D009135
xref: MIM:300718 "phenotype"
[Term]
id: DI-02436
name: Cleft palate with or without ankyloglossia, X-linked
def: "A congenital mouth abnormality characterized by fissure of the soft and/or hard palate, due to faulty fusion. Some patients also manifest ankyloglossia, a condition in which movements of the tongue are restricted. Complete ankyloglossia is due to fusion between the tongue and the floor of the mouth. Partial ankyloglossia is due to a short lingual frenum or one which is attached too near the tip of the tongue." []
synonym: "X-linked cleft palate with ankyloglossia" [UniProt]
xref: MedGen:C1844830
xref: MedGen:C1844831
xref: MeSH:D002972
xref: MIM:303400 "phenotype"
[Term]
id: DI-02437
name: X-linked combined immunodeficiency
def: "Less severe form of X-linked immunodeficiency with a less severe degree of deficiency in cellular and humoral immunity than that seen in XSCID." []
xref: MedGen:C1706416
xref: MIM:312863 "phenotype"
[Term]
id: DI-02438
name: Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
def: "A disease characterized by a severe abnormality of gastrointestinal motility due to primary qualitative defects of enteric ganglia and nerve fibers. Affected individuals manifest recurrent signs of intestinal obstruction in the absence of any mechanical lesion." []
synonym: "CIIP" [UniProt]
synonym: "CIIP X-linked" [UniProt]
synonym: "CIIPX" [UniProt]
synonym: "Congenital idiopathic intestinal pseudoobstruction" [UniProt]
xref: MedGen:C2746068
xref: MeSH:D007418
xref: MIM:300048 "phenotype"
[Term]
id: DI-02439
name: Nystagmus 1, congenital, X-linked
def: "A form of nystagmus, a condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding." []
synonym: "Nystagmus 1 infantile X-linked" [UniProt]
synonym: "Nystagmus congenital motor 1" [UniProt]
synonym: "Nystagmus infantile idiopathic" [UniProt]
synonym: "Nystagmus infantile periodic alternating X-linked" [UniProt]
synonym: "XIPAN" [UniProt]
synonym: "XLPAN" [UniProt]
xref: MedGen:C1839580
xref: MedGen:C3151880
xref: MeSH:D020417
xref: MIM:310700 "phenotype"
[Term]
id: DI-02440
name: Cerebral creatine deficiency syndrome 1
def: "An X-linked disorder of creatine transport characterized by intellectual disability, severe speech delay, behavioral abnormalities, and seizures. Carrier females may show mild neuropsychologic impairment." []
synonym: "Creatine transporter defect" [UniProt]
synonym: "X-linked creatine deficiency syndrome" [UniProt]
xref: MedGen:C1845862
xref: MeSH:D020739
xref: MeSH:D038901
xref: MIM:300352 "phenotype"
[Term]
id: DI-02441
name: Deafness, X-linked, 2
def: "A form of deafness characterized by both conductive hearing loss resulting from stapes (perilymphatic gusher) fixation, and progressive sensorineural deafness." []
synonym: "Deafness 3 conductive with stapes fixation" [UniProt]
synonym: "Deafness conductive with stapes fixation" [UniProt]
synonym: "Deafness mixed with perilymph Gusher X-linked" [UniProt]
synonym: "Deafness mixed with perilymphatic gusher" [UniProt]
synonym: "DFN3" [UniProt]
synonym: "Nance deafness" [UniProt]
synonym: "Perilymphatic gusher-deafness syndrome" [UniProt]
synonym: "X-linked mixed conductive and neurosensory deafness" [UniProt]
synonym: "X-linked mixed conductive and sensorineural deafness" [UniProt]
xref: MedGen:C2677850
xref: MeSH:D046089
xref: MIM:304400 "phenotype"
[Term]
id: DI-02442
name: Scapuloperoneal myopathy, X-linked dominant
def: "A disease characterized by progressive muscle weakness and wasting, upper and lower limbs weakness, foot drop, scapular winging, and myopathic changes on muscle biopsy. Most affected individuals become wheelchair-bound." []
synonym: "Scapuloperoneal myopathy FHL1-related" [UniProt]
xref: MedGen:C2678061
xref: MeSH:D020389
xref: MIM:300695 "phenotype"
[Term]
id: DI-02443
name: X-linked dyserythropoietic anemia and thrombocytopenia
def: "Disorder characterized by erythrocytes with abnormal size and shape, and paucity of platelets in peripheral blood. The bone marrow contains abundant and abnormally small megakaryocytes." []
xref: MedGen:C1845837
xref: MedGen:C1845838
xref: MedGen:C3550789
xref: MIM:300367 "phenotype"
[Term]
id: DI-02444
name: Emery-Dreifuss muscular dystrophy 1, X-linked
def: "A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects." []
synonym: "EMD1" [UniProt]
synonym: "Humeroperoneal neuromuscular disease" [UniProt]
synonym: "Muscular dystrophy tardive Dreifuss-Emery type with contractures" [UniProt]
synonym: "Scapuloperoneal syndrome X-linked" [UniProt]
synonym: "X-EDMD" [UniProt]
synonym: "X-linked Emery-Dreifuss muscular dystrophy" [UniProt]
xref: MedGen:C0751337
xref: MedGen:C2931858
xref: MedGen:CN069573
xref: MeSH:D020389
xref: MIM:310300 "phenotype"
[Term]
id: DI-02445
name: Immunodeficiency 33
def: "An X-linked recessive disorder characterized by variably impaired immunologic function and early-onset recurrent infections, usually due to pneumococcus, H. influenzae, and atypical mycobacteria. Features of hypohidrotic ectodermal dysplasia are generally not present, although some patients may have conical teeth or hypodontia." []
synonym: "AMCBX1" [UniProt]
synonym: "Familial, X-linked, atypical mycobacteriosis 1" [UniProt]
synonym: "IPD2" [UniProt]
synonym: "Recurrent isolated invasive pneumococcal disease 2" [UniProt]
synonym: "X-linked disseminated atypical mycobacterial infection type 1" [UniProt]
synonym: "X-linked immunodeficiency 33, mycobacteriosis" [UniProt]
synonym: "X-linked susceptibility to mycobacterial disease type 1" [UniProt]
xref: MedGen:C1970879
xref: MeSH:D007153
xref: MIM:300636 "phenotype"
[Term]
id: DI-02446
name: Growth hormone deficiency, isolated, 3, with agammaglobulinemia
def: "An X-linked recessive disorder characterized by growth hormone deficiency, short stature, delayed bone age, agammaglobulinemia with markedly reduced numbers of B cells, and good response to treatment with growth hormone." []
synonym: "Agammaglobulinemia and isolated growth hormone deficiency" [UniProt]
synonym: "Fleisher syndrome" [UniProt]
synonym: "Isolated growth hormone deficiency type 3" [UniProt]
synonym: "Isolated growth hormone deficiency, type III, with agammaglobulinemia" [UniProt]
synonym: "X-linked hypogammaglobulinemia and isolated growth hormone deficiency" [UniProt]
xref: MedGen:C0472813
xref: MeSH:D000361
xref: MeSH:D004393
xref: MIM:307200 "phenotype"
[Term]
id: DI-02447
name: Hypophosphatemic rickets, X-linked dominant
def: "A disorder characterized by impaired phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate cotransport in the proximal tubules. Clinical manifestations include skeletal deformities, growth failure, craniosynostosis, paravertebral calcifications, pseudofractures in lower extremities, and muscular hypotonia with onset in early childhood. X-linked hypophosphatemic rickets is the most common form of hypophosphatemia with an incidence of 1 in 20000." []
synonym: "HPDR" [UniProt]
synonym: "HYP" [UniProt]
synonym: "Hypophosphatemia X-linked" [UniProt]
synonym: "Hypophosphatemic vitamin D-resistant rickets" [UniProt]
synonym: "Vitamin D-resistant rickets X-linked" [UniProt]
synonym: "XLH" [UniProt]
xref: MedGen:C0733682
xref: MeSH:D053098
xref: MIM:307800 "phenotype"
[Term]
id: DI-02448
name: Hypospadias 2, X-linked
def: "A common malformation in which the urethra opens on the ventral side of the penis, due to developmental arrest of urethral fusion. The opening can be located glandular, penile, or even more posterior in the scrotum or perineum. Hypospadias is a feature of several syndromic disorders, including the androgen insensitivity syndrome and Opitz syndrome." []
xref: MedGen:C2677879
xref: MeSH:D007021
xref: MIM:300758 "phenotype"
[Term]
id: DI-02449
name: Immunodeficiency with hyper-IgM, type 1
def: "Immunoglobulin isotype switch defect characterized by elevated concentrations of serum IgM and decreased amounts of all other isotypes. Affected males present at an early age (usually within the first year of life) recurrent bacterial and opportunistic infections, including Pneumocystis carinii pneumonia and intractable diarrhea due to cryptosporidium infection. Despite substitution treatment with intravenous immunoglobulin, the overall prognosis is rather poor, with a death rate of about 10% before adolescence." []
synonym: "HIGM" [UniProt]
synonym: "Hyper-IgM syndrome" [UniProt]
synonym: "Hyper-IgM syndrome 1" [UniProt]
synonym: "IHIS" [UniProt]
synonym: "IMD3" [UniProt]
synonym: "Immunodeficiency 3" [UniProt]
synonym: "X-linked hyper IgM syndrome" [UniProt]
synonym: "X-linked immunodeficiency with hyper-IgM 1" [UniProt]
synonym: "XHIM" [UniProt]
xref: MedGen:C0398689
xref: MeSH:D053307
xref: MIM:308230 "phenotype"
[Term]
id: DI-02450
name: Retinoschisis juvenile X-linked 1
def: "A vitreo-retinal dystrophy characterized by macular pathology and by splitting of the superficial layer of the retina. Macular changes are present in almost all cases. In the fundi, radially oriented intraretinal foveomacular cysts are seen in a spoke-wheel configuration, with the absence of foveal reflex in most cases. In addition, approximately half of cases have bilateral peripheral retinoschisis in the inferotemporal part of the retina. Aside from the typical fundus appearance, strabismus, nystagmus, axial hyperopia, defective color vision and foveal ectopy can be present. The most important complications are vitreous hemorrhage, retinal detachment, and neovascular glaucoma." []
synonym: "RS1" [UniProt]
xref: MedGen:C0271091
xref: MedGen:C3714753
xref: MeSH:D041441
xref: MIM:312700 "phenotype"
[Term]
id: DI-02454
name: Myopathy, X-linked, with excessive autophagy
def: "A muscle disorder characterized by childhood early onset of a slowly progressive proximal limb muscle weakness (especially in legs) and elevation of serum creatine kinase, without evidence of cardiac, respiratory or central nervous system involvement. Histopathological analysis reveals diseased muscle fibers that are not necrotic, but show abnormal autophagic vacuolation as a manifestation of excessive autophagic activity in skeletal muscle cells." []
synonym: "XMEA" [UniProt]
xref: MedGen:C1839615
xref: MeSH:D009135
xref: MIM:310440 "phenotype"
[Term]
id: DI-02455
name: Myopathy, X-linked, with postural muscle atrophy
def: "A progressive muscular dystrophy with onset in adulthood. Affected individuals develop a proximal myopathy characterized by specific atrophy of postural muscles, limited neck flexion, bent spine, contractures of the Achilles tendon, respiratory problems, and cardiomyopathy. Patients may show muscle hypertrophy in the early stages of the disorder." []
xref: MedGen:C2678055
xref: MeSH:D009136
xref: MIM:300696 "phenotype"
[Term]
id: DI-02456
name: Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked
def: "A condition characterized by the association of rolandic seizures with oral and speech dyspraxia, and intellectual disability. Rolandic seizures occur during a period of significant brain maturation. During this time, dysfunction of neural network activities such as focal discharges may be associated with specific developmental disabilities resulting in specific cognitive impairments of language, visuo-spatial abilities or attention." []
xref: MedGen:C1845070
xref: MeSH:D001072
xref: MeSH:D008607
xref: MeSH:D019305
xref: MIM:300643 "phenotype"
[Term]
id: DI-02457
name: Neutropenia, severe congenital, X-linked
def: "A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections." []
xref: MedGen:C1845987
xref: MeSH:D009503
xref: MIM:300299 "phenotype"
[Term]
id: DI-02458
name: Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset
def: "A rare myopathy clinically characterized by rapidly progressive muscular weakness, and pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. Death in childhood is frequent in the severe form of the disease, due to respiratory failure." []
synonym: "Myopathy, reducing body, X-linked, early-onset, severe" [UniProt]
xref: MedGen:C2678027
xref: MeSH:D009135
xref: MIM:300717 "phenotype"
[Term]
id: DI-02459
name: Spinocerebellar ataxia, X-linked 6, with or without sideroblastic anemia
def: "An X-linked recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia, with hypochromia and microcytosis." []
synonym: "Anemia, sideroblastic, spinocerebellar ataxia" [UniProt]
synonym: "Pagon Bird Detter syndrome" [UniProt]
xref: MedGen:C1845028
xref: MeSH:D000756
xref: MeSH:D020754
xref: MIM:301310 "phenotype"
[Term]
id: DI-02460
name: Intellectual developmental disorder, X-linked, syndromic 14
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS14 patients manifest intellectual disability associated with other variable signs such as autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities." []
xref: MedGen:C1970822
xref: MeSH:D038901
xref: MIM:300676 "phenotype"
[Term]
id: DI-02461
name: Thrombocytopenia with beta-thalassemia, X-linked
def: "An unusual form of thrombocytopenia associated with beta-thalassemia. Patients have splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and unbalanced (hemo)globin chain synthesis resembling that of beta- thalassemia minor." []
synonym: "Thrombocytopenia platelet dysfunction hemolysis and imbalanced globin synthesis" [UniProt]
xref: MedGen:C1839161
xref: MeSH:D013921
xref: MeSH:D017086
xref: MIM:314050 "phenotype"
[Term]
id: DI-02462
name: VACTERL association X-linked with or without hydrocephalus
def: "A syndrome characterized by a non-random association of congenital defects. Affected individuals manifest vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheoesophageal fistula (TE), renal anomalies (R) such as urethral atresia with hydronephrosis, and limb anomalies (L) such as hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb. Some patients may have hydrocephalus. Some cases of VACTERL-H are associated with increased chromosome breakage and rearrangement." []
synonym: "VACTERL syndrome" [UniProt]
synonym: "Vertebral anal tracheoesophageal esophageal radial anomalies" [UniProt]
synonym: "X-linked VACTERL-H" [UniProt]
xref: MedGen:C1839115
xref: MedGen:C2931228
xref: MeSH:D000015
xref: MIM:314390 "phenotype"
[Term]
id: DI-02463
name: Heterotaxy, visceral, 1, X-linked
def: "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations." []
synonym: "Dextrocardia with other cardiac malformations" [UniProt]
synonym: "Laterality X-linked" [UniProt]
synonym: "Situs inversus with complex cardiac defects and splenic defects X-linked" [UniProt]
xref: MedGen:C1844020
xref: MeSH:D059446
xref: MIM:306955 "phenotype"
[Term]
id: DI-02464
name: XFE progeroid syndrome
def: "A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment." []
synonym: "XPF-ERCC1 progeroid syndrome" [UniProt]
xref: MedGen:C1970416
xref: MeSH:D049914
xref: MIM:610965 "phenotype"
[Term]
id: DI-02465
name: 46,XY sex reversal 3
def: "A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype." []
synonym: "46,XY disorder of sex development" [UniProt]
synonym: "46,XY sex reversal partial or complete NR5A1-related" [UniProt]
synonym: "Complete or partial 46,XY gonadal dysgenesis with or without adrenal failure" [UniProt]
synonym: "XY sex reversal with or without adrenal failure" [UniProt]
xref: MedGen:C2751824
xref: MeSH:D006061
xref: MIM:612965 "phenotype"
[Term]
id: DI-02466
name: Yemenite deaf-blind hypopigmentation syndrome
def: "A disorder characterized by cutaneous hypopigmented and hyperpigmented spots and patches, microcornea, coloboma and severe hearing loss." []
xref: MedGen:C1866425
xref: MeSH:D001766
xref: MeSH:D003638
xref: MeSH:D017496
xref: MIM:601706 "phenotype"
[Term]
id: DI-02467
name: Myopathy, myofibrillar, 4
def: "A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM4 is characterized by distal and proximal muscle weakness with signs of cardiomyopathy and neuropathy." []
synonym: "Markesbery-Griggs distal myopathy" [UniProt]
xref: MedGen:C1836155
xref: MeSH:D020914
xref: MIM:609452 "phenotype"
[Term]
id: DI-02470
name: Cataract 1, multiple types
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT1 includes congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, nuclear total, total, and posterior subcapsular types of cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye." []
synonym: "CAE1" [UniProt]
synonym: "Cataract 1, multiple types, with or without microcornea" [UniProt]
synonym: "Cataract Duffy-linked" [UniProt]
synonym: "Cataract zonular pulverulent 1" [UniProt]
synonym: "Cataract-microcornea syndrome" [UniProt]
synonym: "CCMC" [UniProt]
synonym: "CZNP" [UniProt]
synonym: "CZP" [UniProt]
synonym: "CZP1" [UniProt]
synonym: "Pulverulent zonular cataract" [UniProt]
synonym: "Zonular nuclear pulverulent cataract" [UniProt]
xref: MedGen:C1861828
xref: MeSH:D002386
xref: MIM:116200 "phenotype"
[Term]
id: DI-02471
name: Cataract 14, multiple types
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT14 includes zonular pulverulent cataract, among others. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes." []
synonym: "CAE3" [UniProt]
synonym: "CZP3" [UniProt]
synonym: "Zonular pulverulent cataract 3" [UniProt]
xref: MedGen:C1866078
xref: MeSH:D002386
xref: MIM:601885 "phenotype"
[Term]
id: DI-02472
name: 3M syndrome 2
def: "An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies." []
synonym: "3M syndrome-2" [UniProt]
synonym: "Three M syndrome 2" [UniProt]
xref: MedGen:C2752041
xref: MeSH:D004392
xref: MIM:612921 "phenotype"
[Term]
id: DI-02473
name: Retinitis pigmentosa 42
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C2751986
xref: MeSH:D012174
xref: MIM:612943 "phenotype"
[Term]
id: DI-02474
name: Digital clubbing, isolated congenital
def: "A rare genodermatosis characterized by enlargement of the nail plate and terminal segments of the fingers and toes, resulting from proliferation of the connective tissues between the nail matrix and the distal phalanx. It is usually symmetrical and bilateral (in some cases unilateral). In nail clubbing usually the distal end of the nail matrix is relatively high compared to the proximal end, while the nail plate is complete but its dimensions and diameter more or less vary in comparison to normal. There may be different fingers and toes involved to varying degrees. Some fingers or toes are spared, but the thumbs are almost always involved." []
synonym: "Clubbing of digits" [UniProt]
synonym: "Hereditary acropachy" [UniProt]
xref: MedGen:C1861514
xref: MeSH:D009260
xref: MIM:119900 "phenotype"
[Term]
id: DI-02475
name: Bronchiectasis with or without elevated sweat chloride 2
def: "A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases." []
synonym: "Cystic fibrosis-like syndrome" [UniProt]
xref: MedGen:C2751666
xref: MeSH:D001987
xref: MIM:613021 "phenotype"
[Term]
id: DI-02476
name: Anemia, congenital dyserythropoietic, 2
def: "An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, normocytic anemia, iron overload, jaundice, and variable splenomegaly. Ultrastructural features include bi- or multinucleated erythroblasts in bone marrow, karyorrhexis, and the presence of Gaucher-like bone marrow histiocytes. The main biochemical feature of the disease is defective glycosylation of some red blood cells membrane proteins." []
synonym: "CDA II" [UniProt]
synonym: "Congenital dyserythropoietic anemia type II" [UniProt]
synonym: "Dyserythropoietic anemia HEMPAS type" [UniProt]
synonym: "HEMPAS" [UniProt]
synonym: "Hereditary erythroblastic multinuclearity with positive acidified-serum test" [UniProt]
xref: MedGen:C1306589
xref: MeSH:D000742
xref: MIM:224100 "phenotype"
[Term]
id: DI-02477
name: Deafness, autosomal recessive, 39
def: "A form of profound prelingual sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Congenital neurosensory deafness autosomal recessive 39" [UniProt]
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 39" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal recessive type 39" [UniProt]
xref: MedGen:C1842342
xref: MeSH:D006319
xref: MIM:608265 "phenotype"
[Term]
id: DI-02478
name: Glycogen storage disease 11
def: "A metabolic disorder that results in exertional myoglobinuria, pain, cramps and easy fatigue." []
synonym: "Glycogen storage disease XI" [UniProt]
synonym: "GSD XI" [UniProt]
synonym: "Lactate dehydrogenase A deficiency" [UniProt]
xref: MedGen:C2752022
xref: MeSH:D006008
xref: MIM:612933 "phenotype"
[Term]
id: DI-02480
name: Spondylometaphyseal dysplasia Kozlowski type
def: "A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. It is characterized by postnatal dwarfism, significant scoliosis and mild metaphyseal abnormalities in the pelvis. The vertebrae exhibit platyspondyly and overfaced pedicles." []
synonym: "SMD Kozlowski type" [UniProt]
xref: MedGen:C0265280
xref: MeSH:D010009
xref: MIM:184252 "phenotype"
[Term]
id: DI-02481
name: Metatropic dysplasia
def: "A severe spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints and usually severe kyphoscoliosis. Radiologic features include severe platyspondyly, severe metaphyseal enlargement and shortening of long bones." []
synonym: "Metatropic dwarfism" [UniProt]
xref: MedGen:C0265281
xref: MeSH:D001848
xref: MIM:156530 "phenotype"
[Term]
id: DI-02482
name: Asthma
def: "The most common chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. It is characterized by recurrent attacks of paroxysmal dyspnea, with wheezing due to spasmodic contraction of the bronchi." []
synonym: "Bronchial asthma" [UniProt]
xref: MedGen:C1833269
xref: MedGen:C1833270
xref: MedGen:C1869116
xref: MeSH:D001249
xref: MIM:600807 "phenotype"
[Term]
id: DI-02483
name: Cardiomyopathy, dilated, 1BB
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C2752072
xref: MeSH:D002311
xref: MIM:612877 "phenotype"
[Term]
id: DI-02484
name: Epilepsy, idiopathic generalized 8
def: "A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Seizure types are variable, but include myoclonic seizures, absence seizures, febrile seizures, complex partial seizures, and generalized tonic-clonic seizures." []
synonym: "Susceptibility to idiopathic generalized epilepsy 8" [UniProt]
xref: MedGen:C2752062
xref: MeSH:D004829
xref: MIM:612899 "phenotype"
[Term]
id: DI-02485
name: Epilepsy, idiopathic generalized 10
def: "A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain." []
synonym: "EIG10" [UniProt]
synonym: "Susceptibility to idiopathic generalized epilepsy 10" [UniProt]
xref: MedGen:C2751603
xref: MeSH:D004829
xref: MIM:613060 "phenotype"
[Term]
id: DI-02487
name: Long QT syndrome 12
def: "A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy." []
xref: MedGen:C2751830
xref: MeSH:D008133
xref: MIM:612955 "phenotype"
[Term]
id: DI-02488
name: Bronchiectasis with or without elevated sweat chloride 3
def: "A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases." []
synonym: "Cystic fibrosis-like syndrome" [UniProt]
xref: MedGen:C2751324
xref: MeSH:D001987
xref: MIM:613071 "phenotype"
[Term]
id: DI-02489
name: Bronchiectasis with or without elevated sweat chloride 1
def: "A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases." []
synonym: "Cystic fibrosis-like syndrome" [UniProt]
xref: MedGen:C0006267
xref: MedGen:C2749757
xref: MeSH:D001987
xref: MIM:211400 "phenotype"
[Term]
id: DI-02490
name: Cone-rod dystrophy 9
def: "An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors." []
xref: MedGen:C1423873
xref: MeSH:D058499
xref: MIM:612775 "phenotype"
[Term]
id: DI-02491
name: Cone dystrophy 4
def: "An early-onset cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs." []
xref: MedGen:C2751308
xref: MeSH:D058499
xref: MIM:613093 "phenotype"
[Term]
id: DI-02492
name: Bowen-Conradi syndrome
def: "A combination of malformations characterized in newborns by low birth weight, microcephaly, mild joint restriction, a prominent nose, micrognathia, fifth finger clinodactyly, and 'rocker-bottom' feet. The syndrome is transmitted as an autosomal recessive trait. The prognosis is poor, with all infants dying within the first few months of life." []
synonym: "Bowen syndrome Hutterite type" [UniProt]
xref: MedGen:C1859405
xref: MeSH:D005317
xref: MIM:211180 "phenotype"
[Term]
id: DI-02493
name: Silver-Russell syndrome 1
def: "A form of Silver-Russell syndrome, a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. SRS1 is caused by epigenetic changes of DNA hypomethylation at the telomeric imprinting control region (ICR1) on chromosome 11p15, involving the H19 and IGF2 genes." []
synonym: "RSS" [UniProt]
synonym: "Russell-Silver syndrome" [UniProt]
synonym: "Silver-Russell dwarfism" [UniProt]
synonym: "Silver-Russell syndrome" [UniProt]
synonym: "SRS" [UniProt]
xref: MedGen:C0175693
xref: MeSH:D056730
xref: MIM:180860 "phenotype"
[Term]
id: DI-02494
name: Schopf-Schulz-Passarge syndrome
def: "A rare ectodermal dysplasia, characterized chiefly by cysts of the eyelid margins, palmoplantar keratoderma, hypodontia, hypotrichosis and nail dystrophy. Multiple eyelid apocrine hidrocystomas are the hallmark of this condition, although they usually appear in adulthood. The concomitant presence of eccrine syringofibroadenoma in most patients and of other adnexal skin tumors in some affected subjects indicates that Schopf-Schulz-Passarge syndrome is a genodermatosis with skin appendage neoplasms." []
synonym: "Eccrine tumors with ectodermal dysplasia" [UniProt]
synonym: "Keratosis palmoplantaris with cystic eyelids, hypodontia and hypotrichosis" [UniProt]
xref: MedGen:C1857069
xref: MeSH:D004476
xref: MIM:224750 "phenotype"
[Term]
id: DI-02495
name: Split-hand/foot malformation 6
def: "A limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have intellectual disability, ectodermal and craniofacial findings, and orofacial clefting." []
synonym: "Ectrodactyly autosomal recessive" [UniProt]
xref: MedGen:C2749665
xref: MeSH:D017880
xref: MIM:225300 "phenotype"
[Term]
id: DI-02496
name: Muscular dystrophy-dystroglycanopathy limb-girdle C15
def: "An autosomal recessive muscular dystrophy associated with a disorder of glycosylation resulting in under-glycosylated serum glycoproteins. MDDGC15 patients have muscle weakness, increased serum creatine kinase, dystrophic changes on muscle biopsy, and reduced O- mannosylation of alpha-dystroglycan." []
synonym: "CDG Io" [UniProt]
synonym: "CDG-Io" [UniProt]
synonym: "CDG1O" [UniProt]
synonym: "CDGIo" [UniProt]
synonym: "Congenital disorder of glycosylation 1O" [UniProt]
synonym: "Congenital disorder of glycosylation type Io" [UniProt]
synonym: "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15" [UniProt]
synonym: "Muscular dystrophy-dystroglycanopathy, limb-girdle, DPM3-related" [UniProt]
xref: MedGen:C2752007
xref: MeSH:D018981
xref: MIM:612937 "phenotype"
[Term]
id: DI-02497
name: Atrial septal defect 5
def: "A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria." []
xref: MedGen:C2748552
xref: MeSH:D006344
xref: MIM:612794 "phenotype"
[Term]
id: DI-02498
name: Atrial septal defect 6
def: "A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria." []
xref: MedGen:C2751315
xref: MeSH:D006344
xref: MIM:613087 "phenotype"
[Term]
id: DI-02499
name: Aicardi-Goutieres syndrome 5
def: "A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood." []
synonym: "Cree encephalitis" [UniProt]
synonym: "Pseudo-TORCH syndrome" [UniProt]
xref: MedGen:C2749659
xref: MeSH:D009421
xref: MeSH:D020274
xref: MIM:612952 "phenotype"
[Term]
id: DI-02500
name: Parkinson disease 14
def: "An adult-onset progressive neurodegenerative disorder characterized by parkinsonism, dystonia, severe cognitive decline, cerebral and cerebellar atrophy and absent iron in the basal ganglia on magnetic resonance imaging." []
synonym: "Dystonia-parkinsonism adult-onset" [UniProt]
synonym: "Dystonia-parkinsonism Paisan-Ruiz type" [UniProt]
synonym: "Parkinson disease 14 autosomal recessive" [UniProt]
xref: MedGen:C2751842
xref: MeSH:D004421
xref: MeSH:D020734
xref: MIM:612953 "phenotype"
[Term]
id: DI-02501
name: Brugada syndrome 6
def: "A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset." []
xref: MedGen:C2751089
xref: MeSH:D053840
xref: MIM:613119 "phenotype"
[Term]
id: DI-02502
name: Brugada syndrome 5
def: "A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset." []
xref: MedGen:C2748541
xref: MeSH:D053840
xref: MIM:612838 "phenotype"
[Term]
id: DI-02503
name: Brugada syndrome 7
def: "A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset." []
xref: MedGen:C2751088
xref: MeSH:D053840
xref: MIM:613120 "phenotype"
[Term]
id: DI-02504
name: Joubert syndrome 10
def: "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease." []
xref: MedGen:C2749019
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:300804 "phenotype"
[Term]
id: DI-02506
name: Cataract 6, multiple types
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT6 includes posterior polar and age-related cortical cataracts, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. Age-related cortical cataract is a developmental punctate opacity restricted to the cortex. The cataract is white or cerulean, increases in number with age, but rarely affects vision." []
synonym: "Age-related cortical cataract 2" [UniProt]
synonym: "ARCC2" [UniProt]
synonym: "Cataract posterior polar 1" [UniProt]
synonym: "CTPA" [UniProt]
synonym: "CTPP" [UniProt]
synonym: "CTPP1" [UniProt]
xref: MedGen:C1861825
xref: MeSH:D002386
xref: MIM:116600 "phenotype"
[Term]
id: DI-02507
name: Cataract 5, multiple types
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT5 includes infantile, lamellar, zonular, nuclear, anterior polar, stellate, and Marner-type cataracts, among others. Finger malformation is observed in some kindreds." []
synonym: "CAM" [UniProt]
synonym: "Cataract Marner type" [UniProt]
synonym: "CTM" [UniProt]
xref: MedGen:C0266537
xref: MedGen:C1861821
xref: MeSH:D002386
xref: MIM:116800 "phenotype"
[Term]
id: DI-02508
name: Intellectual developmental disorder, X-linked, syndromic, Raymond type
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Some MRXSR patients show additional features, including marfanoid habitus, epilepsy, facial dysmorphism, hypotonia, and behavioral problems." []
xref: MedGen:C2749033
xref: MedGen:C3275406
xref: MeSH:D038901
xref: MIM:300799 "phenotype"
[Term]
id: DI-02509
name: Fibrosis of extraocular muscles, congenital, 3A
def: "A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Congenital fibrosis of extraocular muscles type 3 presents as a non-progressive, autosomal dominant disorder with variable expression. Patients may be bilaterally or unilaterally affected, and their oculo-motility defects range from complete ophthalmoplegia (with the eyes fixed in a hypo- and exotropic position), to mild asymptomatic restrictions of ocular movement. Ptosis, refractive error, amblyopia, and compensatory head positions are associated with the more severe forms of the disorder. In some cases, the ocular phenotype is accompanied by additional features including developmental delay, corpus callosum agenesis, basal ganglia dysmorphism, facial weakness, polyneuropathy." []
synonym: "Congenital fibrosis of extraocular muscles 3A with or without extraocular involvement" [UniProt]
synonym: "FEOM3" [UniProt]
synonym: "TUBB3 syndrome" [UniProt]
xref: MedGen:C2748801
xref: MeSH:D005355
xref: MeSH:D009886
xref: MIM:600638 "phenotype"
[Term]
id: DI-02510
name: Schizophrenia 9
def: "A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder." []
synonym: "Schizophrenia susceptibility locus chromosome 1q-related" [UniProt]
xref: MedGen:C1858050
xref: MeSH:D012559
xref: MIM:604906 "phenotype"
[Term]
id: DI-02511
name: Schizophrenia 2
def: "A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder." []
synonym: "Schizophrenia susceptibility locus chromosome 11q-related" [UniProt]
xref: MedGen:C1864010
xref: MeSH:D012559
xref: MIM:603342 "phenotype"
[Term]
id: DI-02512
name: Schizophrenia 4
def: "A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder." []
synonym: "Schizophrenia susceptibility locus chromosome 22-related" [UniProt]
xref: MedGen:C1833247
xref: MeSH:D012559
xref: MIM:600850 "phenotype"
[Term]
id: DI-02513
name: Birk-Barel syndrome
def: "A syndrome characterized by intellectual disability, hypotonia, hyperactivity, and facial dysmorphism. BIBARS transmission pattern is consistent with autosomal dominant inheritance with paternal imprinting." []
xref: MedGen:C2676770
xref: MeSH:D008607
xref: MIM:612292 "phenotype"
[Term]
id: DI-02514
name: Hypotrichosis 4
def: "An autosomal dominant condition characterized by reduced amount of hair, alopecia, little or no eyebrows, eyelashes or body hair, and coarse, wiry, twisted hair in early childhood." []
synonym: "Hypotrichosis Marie Unna 1" [UniProt]
synonym: "Marie Unna hereditary hypotrichosis type 1" [UniProt]
synonym: "MUHH1" [UniProt]
xref: MedGen:C2750815
xref: MeSH:D007039
xref: MIM:146550 "phenotype"
[Term]
id: DI-02515
name: Mitchell-Riley syndrome
def: "A disorder characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, and absent gallbladder. There is no dysmorphic features." []
synonym: "Diabetes neonatal with pancreatic hypoplasia intestinal atresia and gallbladder aplasia or hypoplasia" [UniProt]
xref: MedGen:C2748662
xref: MeSH:D004066
xref: MIM:615710 "phenotype"
[Term]
id: DI-02516
name: Melanoma, cutaneous malignant 5
def: "A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but may also involve other sites." []
synonym: "Cutaneous malignant melanoma 5" [UniProt]
xref: MedGen:C2751295
xref: MeSH:D008545
xref: MIM:613099 "phenotype"
[Term]
id: DI-02517
name: Premature ovarian failure 7
def: "An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol." []
xref: MedGen:C2751825
xref: MeSH:D016649
xref: MIM:612964 "phenotype"
[Term]
id: DI-02518
name: Premature ovarian failure 1
def: "An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol." []
synonym: "Hypergonadotropic ovarian failure X-linked" [UniProt]
synonym: "Ovarian failure premature" [UniProt]
synonym: "POF" [UniProt]
synonym: "POFX" [UniProt]
synonym: "POI" [UniProt]
synonym: "Premature ovarian failure X-linked" [UniProt]
synonym: "Primary ovarian insufficiency" [UniProt]
xref: MedGen:C0085215
xref: MedGen:C3494522
xref: MeSH:D016649
xref: MIM:311360 "phenotype"
[Term]
id: DI-02519
name: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
def: "A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects." []
synonym: "EMD4" [UniProt]
synonym: "Emery-Dreifuss muscular dystrophy 4 with variable features" [UniProt]
xref: MedGen:C2751807
xref: MeSH:D020389
xref: MIM:612998 "phenotype"
[Term]
id: DI-02520
name: Emery-Dreifuss muscular dystrophy 5, autosomal dominant
def: "A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects." []
synonym: "EMD5" [UniProt]
xref: MedGen:C2751805
xref: MeSH:D020389
xref: MIM:612999 "phenotype"
[Term]
id: DI-02521
name: Desbuquois dysplasia 1
def: "A chondrodysplasia characterized by severe prenatal and postnatal growth retardation (less than -5 SD), joint laxity, short extremities, progressive scoliosis, round face, midface hypoplasia, prominent bulging eyes. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advance carpal and tarsal bone age. Two forms of Desbuquois dysplasia are distinguished on the basis of the presence or absence of characteristic hand anomalies: an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and phalangeal dislocations." []
synonym: "Desbuquois syndrome" [UniProt]
synonym: "Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification" [UniProt]
xref: MedGen:C0432242
xref: MedGen:C3278482
xref: MeSH:D004392
xref: MeSH:D007593
xref: MeSH:D019465
xref: MIM:251450 "phenotype"
[Term]
id: DI-02522
name: Intellectual developmental disorder, X-linked 96
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
synonym: "MRX96" [UniProt]
xref: MedGen:C2749021
xref: MedGen:C3275408
xref: MeSH:D038901
xref: MIM:300802 "phenotype"
[Term]
id: DI-02523
name: Intellectual developmental disorder, X-linked 97
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
synonym: "MRX65" [UniProt]
synonym: "MRX97" [UniProt]
synonym: "MRXZ" [UniProt]
xref: MedGen:C2749020
xref: MeSH:D038901
xref: MIM:300803 "phenotype"
[Term]
id: DI-02524
name: Thrombophilia, X-linked, due to factor IX defect
def: "A hemostatic disorder characterized by a tendency to thrombosis." []
xref: MedGen:C2749016
xref: MedGen:C3275410
xref: MeSH:D019851
xref: MIM:300807 "phenotype"
[Term]
id: DI-02525
name: Thrombophilia due to histidine-rich glycoprotein deficiency
def: "A hemostatic disorder characterized by a tendency to thrombosis." []
xref: MedGen:C2751090
xref: MedGen:C2751091
xref: MeSH:D019851
xref: MIM:613116 "phenotype"
[Term]
id: DI-02526
name: Thyroid dyshormonogenesis 3
def: "A disorder due to thyroid dyshormonogenesis, causing large goiters of elastic and soft consistency in the majority of patients. Although the degree of thyroid dysfunction varies considerably among patients with defective thyroglobulin synthesis, patients usually have a relatively high serum free triiodothyronine (T3) concentration with disproportionately low free tetraiodothyronine (T4) level. The maintenance of relatively high free T3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases." []
synonym: "CHDH3" [UniProt]
synonym: "Congenital hypothyroidism due to dyshormonogenesis type 3" [UniProt]
synonym: "Genetic defect in thyroid hormonogenesis type 3" [UniProt]
xref: MedGen:C0342194
xref: MeSH:D003409
xref: MIM:274700 "phenotype"
[Term]
id: DI-02527
name: Thyroid dyshormonogenesis 5
def: "A disorder due to thyroid dyshormonogenesis, causing hypothyroidism, goiter, and variable mental deficits derived from unrecognized and untreated hypothyroidism." []
synonym: "CHDH5" [UniProt]
synonym: "Congenital hypothyroidism due to dyshormonogenesis type 5" [UniProt]
synonym: "Genetic defect in thyroid hormonogenesis type 5" [UniProt]
xref: MedGen:C0342196
xref: MeSH:D003409
xref: MIM:274900 "phenotype"
[Term]
id: DI-02528
name: Deafness, autosomal recessive, 77
def: "A form of non-syndromic deafness characterized by preserved low- frequency hearing, and a trend toward mild to moderate mid-frequency and high-frequency hearing loss during childhood and adolescence. Hearing loss progresses to become moderate to severe at mid and high frequencies during adulthood." []
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 77" [UniProt]
xref: MedGen:C2746083
xref: MeSH:D003638
xref: MIM:613079 "phenotype"
[Term]
id: DI-02529
name: Neuropathy, hereditary sensory and autonomic, 2B
def: "A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN2B is an autosomal recessive disorder characterized by impairment of pain, temperature and touch sensation. Onset occurs in the first or second decade, with impaired nociception and progressive mutilating ulceration of the hands and feet with osteomyelitis and acroosteolysis. Amputations of the hands and feet are common. Autonomic dysfunction includes hyperhidrosis, urinary incontinence, and slow pupillary light response." []
synonym: "Hereditary sensory and autonomic neuropathy type IIB" [UniProt]
xref: MedGen:C2751092
xref: MeSH:D009477
xref: MIM:613115 "phenotype"
[Term]
id: DI-02530
name: Cardiomyopathy, dilated, 1CC
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C2751084
xref: MeSH:D002311
xref: MIM:613122 "phenotype"
[Term]
id: DI-02531
name: Optic atrophy 7 with or without auditory neuropathy
def: "A hereditary condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA7 is an autosomal recessive juvenile-onset optic atrophy characterized by severe bilateral deficiency in visual acuity, optic disk pallor, and central scotoma. Some patients manifest hearing loss." []
synonym: "Optic atrophy 7" [UniProt]
xref: MedGen:C2751812
xref: MeSH:D015418
xref: MIM:612989 "phenotype"
[Term]
id: DI-02532
name: Joubert syndrome 1
def: "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease." []
synonym: "Cerebello-oculo-renal syndrome 1" [UniProt]
synonym: "Cerebellooculorenal syndrome 1" [UniProt]
synonym: "Cerebelloparenchymal disorder IV" [UniProt]
synonym: "CORS1" [UniProt]
synonym: "CPD4" [UniProt]
synonym: "JBTS" [UniProt]
synonym: "joubert syndrome" [UniProt]
synonym: "Joubert-Boltshauser syndrome" [UniProt]
xref: MedGen:C0431399
xref: MedGen:CN119531
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:213300 "phenotype"
[Term]
id: DI-02533
name: Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis
def: "An autosomal recessive disorder characterized by moderate intellectual disability, truncal obesity, congenital non-progressive retinal dystrophy, and micropenis in males. The phenotype is similar to Bardet-Biedl syndrome and Cohen syndrome Distinguishing features are the age of onset, the non-progressive nature of the visual impairment, lack of dysmorphic facies, skin or gingival infection, microcephaly, mottled retina, polydactyly, and testicular anomalies." []
synonym: "MORM syndrome" [UniProt]
xref: MedGen:C1857802
xref: MeSH:D008607
xref: MeSH:D009765
xref: MeSH:D010409
xref: MeSH:D058499
xref: MIM:610156 "phenotype"
[Term]
id: DI-02534
name: Klippel-Feil syndrome 1, autosomal dominant
def: "A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. Deafness is a feature in some cases and may be of sensorineural, conductive, or mixed type." []
synonym: "Cervical vertebral fusion autosomal dominant" [UniProt]
synonym: "Cervical vertebral fusion congenital" [UniProt]
synonym: "Congenital Klippel-Feil segment" [UniProt]
synonym: "Fused cervical segments congenital" [UniProt]
synonym: "Isolated Klippel-Feil syndrome" [UniProt]
synonym: "Klippel-Feil malformation" [UniProt]
synonym: "Klippel-Feil sequence" [UniProt]
xref: MedGen:C1861689
xref: MeSH:D007714
xref: MIM:118100 "phenotype"
[Term]
id: DI-02535
name: Microphthalmia, isolated, 4
def: "A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present." []
synonym: "Isolated clinical anophthalmia" [UniProt]
xref: MedGen:C2751307
xref: MeSH:D008850
xref: MIM:613094 "phenotype"
[Term]
id: DI-02536
name: Spondylocostal dysostosis 4, autosomal recessive
def: "A rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations." []
xref: MedGen:C3150942
xref: MeSH:D004413
xref: MIM:613686 "phenotype"
[Term]
id: DI-02537
name: Deafness, autosomal recessive, 25
def: "A form of non-syndromic sensorineural deafness characterized by moderate to severe or profound hearing loss which is progressive in some individuals but not in others. Speech development is impaired in some but not all affected individuals, and vestibular dysfunction is observed in some affected individuals. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:C1414017
xref: MeSH:D006319
xref: MIM:613285 "phenotype"
[Term]
id: DI-02538
name: Spondyloepimetaphyseal dysplasia, short limb-hand type
def: "A bone disease characterized by short-limbed dwarfism, a narrow chest with pectus excavatum, brachydactyly in the hands and feet, a characteristic craniofacial appearance and premature calcifications. The radiological findings are distinctive and comprise short long bones throughout the skeleton with striking epiphyses that are stippled, flattened and fragmented and flared, irregular metaphyses. Platyspondyly in the spine with wide intervertebral spaces is observed and some vertebral bodies are pear-shaped with central humps, anterior protrusions and posterior scalloping." []
synonym: "SMED short limb-abnormal calcification type" [UniProt]
synonym: "SMED short limb-hand type" [UniProt]
synonym: "SMED type II" [UniProt]
synonym: "SMED-SL" [UniProt]
synonym: "SMED-SL/AC" [UniProt]
synonym: "Spondylometaepiphyseal dysplasia short limb-abnormal calcification type" [UniProt]
synonym: "Spondylometaepiphyseal dysplasia short limb-hand type" [UniProt]
xref: MedGen:C1849011
xref: MeSH:D001848
xref: MIM:271665 "phenotype"
[Term]
id: DI-02539
name: Spondyloepimetaphyseal dysplasia, aggrecan type
def: "A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. The radiological findings comprise long bones with generalized irregular epiphyses with widened metaphyses, especially at the knees, platyspondyly, and multiple cervical-vertebral clefts." []
synonym: "SEMD aggrecan type" [UniProt]
xref: MedGen:C2748544
xref: MeSH:D001848
xref: MIM:612813 "phenotype"
[Term]
id: DI-02540
name: IFAP syndrome 1, with or without Bresheck syndrome
def: "An X-linked syndrome characterized by a peculiar triad of follicular ichthyosis, total or subtotal atrichia, and photophobia of varying degree. Histopathologically, the epidermal granular layer is generally well-preserved or thickened at the infundibulum. Hair follicles are poorly developed and tend to be surrounded by an inflammatory infiltrate. A subgroup of patients is described with lamellar rather than follicular ichthyosis. Non-consistent features may include growth and psychomotor retardation, aganglionic megacolon, seizures and nail dystrophy." []
synonym: "Ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia" [UniProt]
synonym: "Ichthyosis follicularis-atrichia-photophobia syndrome" [UniProt]
xref: MedGen:C1839988
xref: MedGen:C3275579
xref: MeSH:D000505
xref: MeSH:D007057
xref: MeSH:D020795
xref: MIM:308205 "phenotype"
[Term]
id: DI-02541
name: Myopathy, myofibrillar, 6
def: "A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM6 is characterized by early-onset of severe, progressive, diffuse muscle weakness associated with cardiomyopathy, severe respiratory insufficiency during adolescence, and a rigid spine in some patients." []
synonym: "MFM BAG3-related" [UniProt]
synonym: "Muscular dystrophy Selcen type" [UniProt]
synonym: "Myopathy myofibrillar BAG3-related" [UniProt]
xref: MedGen:C2751831
xref: MeSH:D020914
xref: MIM:612954 "phenotype"
[Term]
id: DI-02542
name: Osteogenesis imperfecta 9
def: "A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI9 is a severe autosomal recessive form of the disorder." []
synonym: "OI type IX" [UniProt]
synonym: "OI-IX" [UniProt]
synonym: "Osteogenesis imperfecta Sillence type II/III without abnormality of type I collagen" [UniProt]
synonym: "Osteogenesis imperfecta type IX" [UniProt]
xref: MedGen:C1850169
xref: MeSH:D010013
xref: MIM:259440 "phenotype"
[Term]
id: DI-02543
name: Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance
def: "A complex disorder characterized by generalized seizures with onset in infancy, delayed psychomotor development, ataxia, sensorineural hearing loss, hypokalemia, metabolic alkalosis, and hypomagnesemia." []
synonym: "EAST syndrome" [UniProt]
synonym: "Epilepsy ataxia sensorineural deafness and tubulopathy" [UniProt]
synonym: "SESAME syndrome" [UniProt]
xref: MedGen:C2748572
xref: MeSH:D006319
xref: MeSH:D008607
xref: MeSH:D012640
xref: MIM:612780 "phenotype"
[Term]
id: DI-02544
name: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5
def: "A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism." []
synonym: "Progressive external ophthalmoplegia autosomal dominant 5" [UniProt]
xref: MedGen:C2751319
xref: MeSH:D017246
xref: MIM:613077 "phenotype"
[Term]
id: DI-02545
name: Hereditary neutrophilia
def: "A form of lifelong, persistent neutrophilia, a condition characterized by an increase in the number of neutrophils in the blood." []
xref: MedGen:C0543669
xref: MeSH:D007964
xref: MIM:162830 "phenotype"
[Term]
id: DI-02546
name: Hemangioma, capillary infantile
def: "A condition characterized by dull red, firm, dome-shaped hemangiomas, sharply demarcated from surrounding skin, usually presenting at birth or occurring within the first two or three months of life. They result from highly proliferative, localized growth of capillary endothelium and generally undergo regression and involution without scarring." []
synonym: "Hemangioma hereditary capillary" [UniProt]
xref: MedGen:C1865871
xref: MeSH:D018324
xref: MIM:602089 "phenotype"
[Term]
id: DI-02547
name: Osteopathia striata with cranial sclerosis
def: "An X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, facial palsy, conductive hearing loss, mild learning disabilities, sclerosis of the long bones and skull. Longitudinal striations are visible on radiographs of the long bones, pelvis, and scapulae (osteopathia striata). In males this entity is usually associated with fetal or neonatal lethality. Occasional surviving males have, in addition to hyperostosis, cardiac, intestinal, and genitourinary malformations." []
synonym: "Hyperostosis generalisata with striations" [UniProt]
synonym: "Robinow-Unger syndrome" [UniProt]
xref: MedGen:C0432268
xref: MeSH:D010026
xref: MIM:300373 "phenotype"
[Term]
id: DI-02548
name: Deafness, autosomal recessive, 61
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 61" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal recessive type 61" [UniProt]
xref: MedGen:C3151230
xref: MeSH:D006319
xref: MIM:613865 "phenotype"
[Term]
id: DI-02549
name: Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy
def: "A cerebrovascular disease characterized by non-hypertensive arteriopathy of cerebral small vessels with subcortical infarcts, alopecia, and spondylosis. Small cerebral arteries show arteriosclerotic changes, fibrous intimal proliferation, and hyaline degeneration with splitting of the intima and/or the internal elastic membrane. Neurologic features include progressive dementia, gait disturbances, extrapyramidal and pyramidal signs, and demyelination of the cerebral white matter with sparing of U fibers." []
synonym: "CARASIL syndrome" [UniProt]
synonym: "Cerebrovascular disease with thin skin, alopecia, and disk disease" [UniProt]
synonym: "Maeda syndrome" [UniProt]
synonym: "Progressive subcortical vascular encephalopathy" [UniProt]
synonym: "Subcortical vascular encephalopathy, progressive" [UniProt]
xref: MedGen:C1838577
xref: MeSH:D015140
xref: MIM:600142 "phenotype"
[Term]
id: DI-02550
name: Pleuropulmonary blastoma
def: "A rare pediatric intrathoracic neoplasm. The tumor arises from the lung, pleura, or both, and appears to be purely mesenchymal in phenotype. It lacks malignant epithelial elements, a feature that distinguishes it from the classic adult-type pulmonary blastoma. It arises during fetal lung development and is often part of an inherited cancer syndrome. The tumor contain both epithelial and mesenchymal cells. Early in tumorigenesis, cysts form in lung airspaces, and these cysts are lined with benign-appearing epithelium. Mesenchymal cells susceptible to malignant transformation reside within the cyst walls and form a dense layer beneath the epithelial lining. In a subset of patients, overgrowth of the mesenchymal cells produces a sarcoma, a transition that is associated with a poorer prognosis. Some patients have multilocular cystic nephroma, a benign kidney tumor." []
synonym: "PPB familial tumor and dysplasia syndrome" [UniProt]
synonym: "PPBFTDS" [UniProt]
xref: MedGen:C1266144
xref: MeSH:D012142
xref: MIM:601200 "phenotype"
[Term]
id: DI-02551
name: Immunodeficiency 10
def: "An immune disorder characterized by recurrent infections, impaired activation and proliferative response of T-cells, decreased T-cell production of cytokines, lymphadenopathy, and normal lymphocytes counts and serum immunoglobulin levels. Additional features include thrombocytopenia, autoimmune hemolytic anemia, myopathy, partial iris hypoplasia, hepatosplenomegaly and defective enamel dentition." []
synonym: "Immune dysfunction with T-cell inactivation due to calcium entry defect 2" [UniProt]
synonym: "STIM1 deficiency" [UniProt]
xref: MedGen:C2748557
xref: MeSH:D007153
xref: MIM:612783 "phenotype"
[Term]
id: DI-02552
name: Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis
def: "An autosomal recessive, autoinflammatory disease of skin and bone resulting in sterile multifocal osteomyelitis, periostitis, and pustulosis from birth. The term autoinflammatory disease describes a group of disorders characterized by attacks of seemingly unprovoked inflammation without significant levels of autoantibodies and autoreactive T-cells." []
synonym: "Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency" [UniProt]
synonym: "DIRA" [UniProt]
synonym: "Interleukin 1 receptor antagonist deficiency" [UniProt]
synonym: "OMPP" [UniProt]
synonym: "Osteomyelitis, sterile multifocal, with periostitis and pustulosis" [UniProt]
xref: MedGen:C2748507
xref: MeSH:D056660
xref: MIM:612852 "phenotype"
[Term]
id: DI-02553
name: Cardiomyopathy, familial hypertrophic, 13
def: "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death." []
xref: MedGen:C2750472
xref: MeSH:D024741
xref: MIM:613243 "phenotype"
[Term]
id: DI-02554
name: Bartter syndrome 4B, neonatal, with sensorineural deafness
def: "A digenic form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS4B is associated with sensorineural deafness." []
synonym: "Bartter syndrome 4B" [UniProt]
synonym: "BSND" [UniProt]
synonym: "Infantile Bartter syndrome with sensorineural deafness" [UniProt]
xref: MedGen:C2751312
xref: MeSH:D001477
xref: MIM:613090 "phenotype"
[Term]
id: DI-02555
name: Hypotrichosis and recurrent skin vesicles
def: "A disorder characterized by hypotrichosis and the appearance of recurrent skin vesicle formation. Affected individuals show sparse and fragile hair on scalp, as well as absent eyebrows and eyelashes. Vesicles filled with thin, watery fluid are observed on the scalp and skin of most of the body. Mucosal vesicles are absent." []
xref: MedGen:C2751292
xref: MeSH:D007039
xref: MIM:613102 "phenotype"
[Term]
id: DI-02556
name: Focal segmental glomerulosclerosis 5
def: "A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation." []
xref: MedGen:C2750475
xref: MeSH:D005923
xref: MIM:613237 "phenotype"
[Term]
id: DI-02557
name: Brugada syndrome 8
def: "A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset." []
xref: MedGen:C2751083
xref: MeSH:D053840
xref: MIM:613123 "phenotype"
[Term]
id: DI-02558
name: Noonan syndrome 6
def: "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells." []
xref: MedGen:C2750732
xref: MeSH:D009634
xref: MIM:613224 "phenotype"
[Term]
id: DI-02559
name: Cerebral palsy, spastic quadriplegic 2
def: "A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest congenital hypotonia evolving over the first year to spastic quadriplegia with accompanying transient nystagmus and varying degrees of intellectual disability. Neuroimaging shows brain atrophy and ventriculomegaly." []
xref: MedGen:C2752061
xref: MeSH:D002547
xref: MIM:612900 "phenotype"
[Term]
id: DI-02560
name: Spastic paraplegia 50, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG50 affected individuals present postnatally with early infantile hypotonia, delayed psychomotor development, strabismus, lack of independent walking and severe intellectual disability. They develop progressive spasticity of all limbs with generalized hypertonia, hyperreflexia, and extensor plantar responses by the end of the first year of life. Speech is absent or limited. Pseudobulbar signs, such as drooling, stereotypic laughter, and exaggerated jaw jerk, are part of the clinical picture." []
xref: MedGen:C2752008
xref: MeSH:D015419
xref: MIM:612936 "phenotype"
[Term]
id: DI-02561
name: Growth retardation, developmental delay, and facial dysmorphism
def: "A severe polymalformation syndrome characterized by postnatal growth retardation, microcephaly, severe psychomotor delay, functional brain deficits and characteristic facial dysmorphism. In some patients, structural brain malformations, cardiac defects, genital anomalies, and cleft palate are observed. Early death occurs by the age of 3 years." []
synonym: "Growth retardation developmental delay coarse facies early death" [UniProt]
synonym: "Lethal polymalformative syndrome Boissel type" [UniProt]
xref: MedGen:C2752001
xref: MeSH:D000015
xref: MIM:612938 "phenotype"
[Term]
id: DI-02562
name: Developmental and epileptic encephalopathy 39 with leukodystrophy
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE39 is characterized by global hypomyelination of the central nervous system, with the gray matter appearing relatively unaffected. Inheritance is autosomal recessive." []
synonym: "AGC1 deficiency" [UniProt]
synonym: "Aspartate-glutamate carrier 1 deficiency" [UniProt]
synonym: "EIEE39" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 39" [UniProt]
synonym: "Global cerebral hypomyelination" [UniProt]
synonym: "Hypomyelination, global cerebral" [UniProt]
xref: MedGen:C2751855
xref: MeSH:D013036
xref: MeSH:D020279
xref: MIM:612949 "phenotype"
[Term]
id: DI-02563
name: Familial paroxysmal ventricular fibrillation 2
def: "A cardiac arrhythmia marked by fibrillary contractions of the ventricular muscle due to rapid repetitive excitation of myocardial fibers without coordinated contraction of the ventricle and by absence of atrial activity." []
xref: MedGen:C2751829
xref: MeSH:D014693
xref: MIM:612956 "phenotype"
[Term]
id: DI-02564
name: Multiple synostoses syndrome 3
def: "A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism." []
xref: MedGen:C2751826
xref: MeSH:D013580
xref: MIM:612961 "phenotype"
[Term]
id: DI-02565
name: Spermatogenic failure 7
def: "An infertility disorder characterized by non-motile sperm or sperm motility below the normal threshold, low sperm count, increased abnormally structured spermatozoa, and reduced semen volume." []
synonym: "Male infertility non-syndromic autosomal recessive" [UniProt]
synonym: "MIAR" [UniProt]
xref: MedGen:C2751811
xref: MeSH:D053627
xref: MIM:612997 "phenotype"
[Term]
id: DI-02566
name: Glioma
def: "Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes." []
synonym: "Astrocytoma" [UniProt]
synonym: "Familial glioma of brain" [UniProt]
synonym: "GBM" [UniProt]
synonym: "Glioblastoma multiforme" [UniProt]
synonym: "GLM" [UniProt]
synonym: "Oligodendroglioma" [UniProt]
xref: MedGen:C0004114
xref: MedGen:C0028945
xref: MedGen:C0751396
xref: MedGen:C1621958
xref: MedGen:C1842010
xref: MeSH:D005910
xref: MIM:137800 "phenotype"
[Term]
id: DI-02567
name: Glioma 2
def: "Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes." []
xref: MedGen:C2751642
xref: MeSH:D005910
xref: MIM:613028 "phenotype"
[Term]
id: DI-02568
name: Cardiomyopathy, dilated, 1DD
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C2750995
xref: MeSH:D002311
xref: MIM:613172 "phenotype"
[Term]
id: DI-02569
name: Ciliary dyskinesia, primary, 13
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. At ultrastructural level, CILD13 is characterized by a marked reduction or absence of both dynein arms from the patients cilia." []
synonym: "ICS13" [UniProt]
synonym: "Immotile cilia syndrome 13" [UniProt]
synonym: "Primary ciliary dyskinesia 13 with or without situs inversus" [UniProt]
xref: MedGen:C2750790
xref: MeSH:D007619
xref: MIM:613193 "phenotype"
[Term]
id: DI-02570
name: Amelogenesis imperfecta, hypomaturation type, 2A3
def: "A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel." []
synonym: "Amelogenesis imperfecta hypomaturation type IIA3" [UniProt]
xref: MedGen:C2750771
xref: MeSH:D000567
xref: MIM:613211 "phenotype"
[Term]
id: DI-02571
name: Postaxial acrofacial dysostosis
def: "POADS is characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the posterior elements of the limbs, coloboma of the eyelids and supernumerary nipples. POADS is a very rare disorder: only 2 multiplex families, each consisting of 2 affected siblings born to unaffected, nonconsanguineous parents, have been described among a total of around 30 reported cases." []
synonym: "Miller syndrome" [UniProt]
xref: MedGen:C0265257
xref: MIM:263750 "phenotype"
[Term]
id: DI-02572
name: Glycogen storage disease 10
def: "A metabolic disorder characterized by myoglobinuria, increased serum creatine kinase levels, decreased phosphoglycerate mutase activity, myalgia, muscle pain, muscle cramps, exercise intolerance." []
synonym: "Glycogen storage disease X" [UniProt]
synonym: "GSD X" [UniProt]
synonym: "Muscle phosphoglycerate mutase deficiency" [UniProt]
synonym: "Myopathy due to phosphoglycerate mutase deficiency" [UniProt]
synonym: "PGAMM deficiency" [UniProt]
xref: MedGen:C0268149
xref: MeSH:D006008
xref: MIM:261670 "phenotype"
[Term]
id: DI-02573
name: Encephalopathy, acute, infection-induced, 1, herpes-specific
def: "A rare complication of human herpesvirus 1 (HHV-1) infection, occurring in only a small minority of HHV-1 infected individuals. It is characterized by hemorrhagic necrosis of parts of the temporal and frontal lobes. Onset is over several days and involves fever, headache, seizures, stupor, and often coma, frequently with a fatal outcome." []
synonym: "Encephalopathy, acute, infection-induced, 1" [UniProt]
synonym: "Herpes simplex encephalitis 1" [UniProt]
synonym: "HSE1" [UniProt]
synonym: "Infection-induced acute encephalopathy 1" [UniProt]
xref: MedGen:C2750180
xref: MeSH:D020803
xref: MIM:610551 "phenotype"
[Term]
id: DI-02574
name: Attention deficit-hyperactivity disorder 7
def: "A neurobehavioral developmental disorder primarily characterized by the coexistence of attentional problems and hyperactivity, with each behavior occurring infrequently alone." []
xref: MedGen:C2751802
xref: MeSH:D001289
xref: MIM:613003 "phenotype"
[Term]
id: DI-02575
name: Frontonasal dysplasia 1
def: "The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline." []
synonym: "FND" [UniProt]
synonym: "FNM" [UniProt]
synonym: "Frontonasal dysplasia" [UniProt]
synonym: "Frontonasal malformation" [UniProt]
synonym: "Frontorhiny" [UniProt]
synonym: "Median cleft syndrome" [UniProt]
xref: MedGen:C1876203
xref: MeSH:D000013
xref: MIM:136760 "phenotype"
[Term]
id: DI-02576
name: Hyperpigmentation with or without hypopigmentation, familial progressive
def: "A disorder characterized by hyperpigmented patches in the skin, present in early infancy and increasing in size and number with age. Hyperpigmentation has variable intensity, and sometimes is associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules." []
synonym: "Melanosis universalis hereditaria" [UniProt]
synonym: "MUH" [UniProt]
xref: MedGen:C1840392
xref: MIM:145250 "phenotype"
[Term]
id: DI-02577
name: VACTERL association
def: "VACTERL is an acronym for vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects." []
xref: MedGen:C0220708
xref: MedGen:C1735591
xref: MIM:192350 "phenotype"
[Term]
id: DI-02578
name: Immunodeficiency 103, susceptibility to fungal infections
def: "An autosomal recessive primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans." []
synonym: "CANDF2" [UniProt]
synonym: "Candidiasis, familial, 2" [UniProt]
synonym: "CARD9 immunodeficiency" [UniProt]
synonym: "Familial chronic mucocutaneous candidiasis autosomal recessive" [UniProt]
xref: MedGen:C1859353
xref: MeSH:D002178
xref: MIM:212050 "phenotype"
[Term]
id: DI-02579
name: Chordoma
def: "Rare, clinically malignant tumors derived from notochordal remnants. They occur along the length of the spinal axis, predominantly in the sphenooccipital, vertebral and sacrococcygeal regions. They are characterized by slow growth, local destruction of bone, extension into adjacent soft tissues and rarely, distant metastatic spread." []
xref: MedGen:C0008487
xref: MeSH:D002817
xref: MIM:215400 "phenotype"
[Term]
id: DI-02580
name: Pituitary hormone deficiency, combined, 3
def: "Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD3 is characterized by a complete deficit in all but one (adrenocorticotropin) anterior pituitary hormone and a rigid cervical spine leading to limited head rotation." []
synonym: "Combined pituitary hormone deficiency with rigid cervical spine" [UniProt]
synonym: "Sensorineural deafness with pituitary dwarfism" [UniProt]
xref: MedGen:C1857330
xref: MedGen:C3489787
xref: MeSH:D007018
xref: MIM:221750 "phenotype"
[Term]
id: DI-02581
name: Growth hormone deficiency with pituitary anomalies
def: "A disease characterized by low or absent growth hormone levels, in the presence of a hypoplastic anterior pituitary lobe and ectopic or absent posterior pituitary lobe." []
xref: MedGen:C2750027
xref: MeSH:D007018
xref: MIM:182230 "phenotype"
[Term]
id: DI-02582
name: Pituitary hormone deficiency, combined, 5
def: "Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD5 is characterized by complete or partial deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone." []
xref: MedGen:C2750026
xref: MeSH:D007018
xref: MIM:182230 "phenotype"
[Term]
id: DI-02583
name: Short-rib thoracic dysplasia 3 with or without polydactyly
def: "A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome." []
synonym: "Asphyxiating thoracic dystrophy 3" [UniProt]
synonym: "ATD3" [UniProt]
synonym: "JATD" [UniProt]
synonym: "Jeune asphyxiating thoracic dystrophy" [UniProt]
synonym: "Jeune syndrome 3" [UniProt]
synonym: "Majewski syndrome" [UniProt]
synonym: "Polydactyly with neonatal chondrodystrophy type I" [UniProt]
synonym: "Polydactyly with neonatal chondrodystrophy type III" [UniProt]
synonym: "Saldino-Noonan syndrome" [UniProt]
synonym: "Short rib-polydactyly syndrome type I" [UniProt]
synonym: "Short rib-polydactyly syndrome type IIB" [UniProt]
synonym: "Short rib-polydactyly syndrome type III" [UniProt]
synonym: "SRPS type IIB" [UniProt]
synonym: "SRPS type III" [UniProt]
synonym: "SRPS1" [UniProt]
synonym: "SRPS2B" [UniProt]
synonym: "SRPS3" [UniProt]
synonym: "Verma-Naumoff syndrome" [UniProt]
xref: MedGen:C2751311
xref: MeSH:D012779
xref: MIM:613091 "phenotype"
[Term]
id: DI-02585
name: Intellectual developmental disorder, autosomal recessive 13
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Brain magnetic resonance imaging of MRT13 patients indicates the presence of mild cerebral white matter hypoplasia. Microcephaly is present in some but not all affected individuals." []
xref: MedGen:C2750791
xref: MeSH:D008607
xref: MIM:613192 "phenotype"
[Term]
id: DI-02586
name: Intellectual developmental disorder, X-linked 72
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. XLID72 patients can manifest autism spectrum disorder, seizures and macrocephaly as additional features." []
synonym: "MRX72" [UniProt]
xref: MedGen:C1846038
xref: MeSH:D038901
xref: MIM:300271 "phenotype"
[Term]
id: DI-02587
name: Spastic paraplegia 44, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body." []
xref: MedGen:C2750784
xref: MeSH:D015419
xref: MIM:613206 "phenotype"
[Term]
id: DI-02588
name: Night blindness, congenital stationary, 1C
def: "A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia." []
synonym: "Complete autosomal recessive CSNB" [UniProt]
xref: MedGen:C2750747
xref: MeSH:D009755
xref: MIM:613216 "phenotype"
[Term]
id: DI-02589
name: Restless legs syndrome 7
def: "A neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation. The majority of patients also have periodic limb movements in sleep, which are characterized by involuntary, highly stereotypical, regularly occurring limb movements that occur during sleep." []
xref: MedGen:C2748506
xref: MeSH:D012148
xref: MIM:612853 "phenotype"
[Term]
id: DI-02590
name: Keratoderma, palmoplantar, non-epidermolytic, focal 1
def: "A dermatological disorder characterized by non-epidermolytic palmoplantar keratoderma limited to the pressure points on the balls of the feet, with later mild involvement on the palms. Oral, genital and follicular keratotic lesions are often present." []
synonym: "Focal nonepidermolytic palmoplantar keratoderma" [UniProt]
synonym: "Keratoderma, focal nonepidermolytic palmoplantar" [UniProt]
synonym: "PPKFNE" [UniProt]
xref: MedGen:C2751804
xref: MeSH:D007645
xref: MIM:613000 "phenotype"
[Term]
id: DI-02591
name: Juvenile absence epilepsy 2
def: "A subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures." []
synonym: "EJA2" [UniProt]
synonym: "Susceptibility to juvenile absence epilepsy 2" [UniProt]
xref: MedGen:C2750895
xref: MeSH:D004832
xref: MIM:607628 "phenotype"
[Term]
id: DI-02592
name: Juvenile myoclonic epilepsy 8
def: "A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue." []
synonym: "Susceptibility to juvenile myoclonic epilepsy 8" [UniProt]
xref: MedGen:CN043197
xref: MeSH:D020190
xref: MIM:607628 "phenotype"
[Term]
id: DI-02593
name: Ichthyosis prematurity syndrome
def: "A keratinization disorder characterized by complications in the second trimester of pregnancy resulting from polyhydramnion, with premature birth of a child with thick caseous desquamating epidermis, respiratory complications and transient eosinophilia. After recovery during the first months of life, the symptoms are relatively benign and the patients suffer from a lifelong non-scaly ichthyosis with atopic manifestations." []
synonym: "Ichthyosis congenita IV" [UniProt]
xref: MedGen:C1837610
xref: MeSH:D007057
xref: MIM:608649 "phenotype"
[Term]
id: DI-02594
name: Glaucoma 1, open angle, O
def: "A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place." []
synonym: "Primary open angle glaucoma 1O" [UniProt]
xref: MedGen:C2751294
xref: MeSH:D005902
xref: MIM:613100 "phenotype"
[Term]
id: DI-02595
name: Glaucoma 3, primary congenital, D
def: "An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor." []
synonym: "Primary congenital glaucoma 3D" [UniProt]
xref: MedGen:C2751316
xref: MeSH:D005901
xref: MIM:613086 "phenotype"
[Term]
id: DI-02596
name: Deafness, autosomal recessive, 79
def: "A form of non-syndromic deafness characterized by progressive and severe sensorineural hearing loss. There are no symptoms of vestibular dysfunction." []
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 79" [UniProt]
xref: MedGen:C2750082
xref: MeSH:D006319
xref: MIM:613307 "phenotype"
[Term]
id: DI-02597
name: Hemolytic uremic syndrome, atypical, 2
def: "An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease." []
synonym: "Atypical hemolytic uremic with MCP or CD46 anomaly" [UniProt]
xref: MedGen:C2752040
xref: MeSH:D065766
xref: MIM:612922 "phenotype"
[Term]
id: DI-02598
name: Hemolytic uremic syndrome, atypical, 3
def: "An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease." []
synonym: "Atypical hemolytic uremic syndrome with I factor anomaly" [UniProt]
xref: MedGen:C2752039
xref: MedGen:CN043568
xref: MeSH:D065766
xref: MIM:612923 "phenotype"
[Term]
id: DI-02599
name: Hemolytic uremic syndrome, atypical, 4
def: "An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease." []
synonym: "Atypical hemolytic uremic syndrome with B factor anomaly" [UniProt]
xref: MedGen:C2752038
xref: MeSH:D065766
xref: MIM:612924 "phenotype"
[Term]
id: DI-02600
name: Hemolytic uremic syndrome, atypical, 5
def: "An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease." []
synonym: "Atypical hemolytic uremic syndrome with C3 anomaly" [UniProt]
xref: MedGen:C2752037
xref: MeSH:D065766
xref: MIM:612925 "phenotype"
[Term]
id: DI-02601
name: Hemolytic uremic syndrome, atypical, 6
def: "An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease." []
synonym: "Atypical hemolytic uremic syndrome with thrombomodulin anomaly" [UniProt]
xref: MedGen:C2752036
xref: MeSH:D065766
xref: MIM:612926 "phenotype"
[Term]
id: DI-02602
name: Breast cancer
def: "A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case." []
synonym: "Breast cancer familial" [UniProt]
synonym: "Breast cancer familial male" [UniProt]
synonym: "Breast carcinoma" [UniProt]
synonym: "Mammary carcinoma" [UniProt]
xref: MedGen:C0006142
xref: MedGen:C1861906
xref: MeSH:D001943
xref: MIM:114480 "phenotype"
[Term]
id: DI-02603
name: Breast-ovarian cancer, familial, 2
def: "A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate." []
synonym: "Breast cancer familial 2" [UniProt]
synonym: "Ovarian cancer familial 2" [UniProt]
xref: MedGen:C2675520
xref: MedGen:C2675521
xref: MedGen:C2675522
xref: MeSH:D001943
xref: MeSH:D010051
xref: MIM:612555 "phenotype"
[Term]
id: DI-02604
name: Multiple sclerosis
def: "A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease." []
xref: MedGen:C1868685
xref: MeSH:D009103
xref: MIM:126200 "phenotype"
[Term]
id: DI-02605
name: Multiple sclerosis 3
def: "A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease." []
xref: MedGen:C2675477
xref: MeSH:D009103
xref: MIM:612595 "phenotype"
[Term]
id: DI-02606
name: Basal laminar drusen
def: "Drusen are extracellular deposits that accumulate below the retinal pigment epithelium on Bruch membrane. Basal laminar drusen refers to an early adult-onset drusen phenotype that shows a pattern of uniform small, slightly raised yellow subretinal nodules randomly scattered in the macula. In later stages, these drusen often become more numerous, with clustered groups of drusen scattered throughout the retina. In time these small basal laminar drusen may expand and ultimately lead to a serous pigment epithelial detachment of the macula that may result in vision loss." []
synonym: "Drusen cuticular" [UniProt]
synonym: "Drusen early adult-onset grouped" [UniProt]
synonym: "Drusen of Bruch membrane" [UniProt]
xref: MedGen:C0730295
xref: MeSH:D015593
xref: MIM:126700 "phenotype"
[Term]
id: DI-02607
name: Bardet-Biedl syndrome 14
def: "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease." []
xref: MedGen:C2673874
xref: MeSH:D020788
xref: MIM:615991 "phenotype"
[Term]
id: DI-02608
name: Dyslexia 1
def: "A relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability." []
synonym: "Congenital word-blindness" [UniProt]
synonym: "Dyslexia 4" [UniProt]
synonym: "Dyslexia 7" [UniProt]
synonym: "DYX4" [UniProt]
synonym: "DYX7" [UniProt]
synonym: "Specific reading disability type 1" [UniProt]
xref: MedGen:C1851967
xref: MedGen:C1851968
xref: MedGen:C1851969
xref: MIM:127700 "phenotype"
[Term]
id: DI-02609
name: Myeloproliferative disorder chronic with eosinophilia
def: "A hematologic disorder characterized by malignant eosinophils proliferation." []
synonym: "Malignant proliferation of eosinophils" [UniProt]
xref: MedGen:C1851585
xref: MIM:131440 "phenotype"
[Term]
id: DI-02610
name: Ewing sarcoma
def: "A highly malignant, metastatic, primitive small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma family of tumors, a group of morphologically heterogeneous neoplasms that share the same cytogenetic features. They are considered neural tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated form of the tumors." []
synonym: "Askin tumor" [UniProt]
synonym: "ESFT" [UniProt]
synonym: "Ewing sarcoma family of tumors" [UniProt]
synonym: "Ewing's tumor" [UniProt]
synonym: "Extraosseous Ewing tumor" [UniProt]
synonym: "Peripheral neuroepithelioma" [UniProt]
synonym: "PNE" [UniProt]
synonym: "PNET" [UniProt]
synonym: "PNET of the chest wall" [UniProt]
synonym: "Primitive neuroectodermal tumor" [UniProt]
xref: MedGen:C0553580
xref: MedGen:C0684337
xref: MedGen:C0877849
xref: MedGen:C3489398
xref: MeSH:D012512
xref: MIM:612219 "phenotype"
[Term]
id: DI-02611
name: Angiomatoid fibrous histiocytoma
def: "A distinct variant of malignant fibrous histiocytoma that typically occurs in children and adolescents and is manifest by nodular subcutaneous growth. Characteristic microscopic features include lobulated sheets of histiocyte-like cells intimately associated with areas of hemorrhage and cystic pseudovascular spaces, as well as a striking cuffing of inflammatory cells, mimicking a lymph node metastasis." []
xref: MedGen:C1266127
xref: MeSH:D051677
xref: MIM:612160 "phenotype"
[Term]
id: DI-02612
name: Bladder cancer
def: "A malignancy originating in tissues of the urinary bladder. It often presents with multiple tumors appearing at different times and at different sites in the bladder. Most bladder cancers are transitional cell carcinomas that begin in cells that normally make up the inner lining of the bladder. Other types of bladder cancer include squamous cell carcinoma (cancer that begins in thin, flat cells) and adenocarcinoma (cancer that begins in cells that make and release mucus and other fluids). Bladder cancer is a complex disorder with both genetic and environmental influences." []
synonym: "Urinary bladder cancer" [UniProt]
synonym: "Urothelial carcinoma of the bladder" [UniProt]
xref: MedGen:C0005684
xref: MeSH:D001749
xref: MIM:109800 "phenotype"
[Term]
id: DI-02613
name: Burkitt lymphoma
def: "A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass." []
synonym: "Burkitt tumor" [UniProt]
xref: MedGen:C0006413
xref: MeSH:D002051
xref: MIM:113970 "phenotype"
[Term]
id: DI-02614
name: Intestinal carcinoid tumor
def: "A yellow, well-differentiated, circumscribed tumor that arises from enterochromaffin cells in the small intestine or, less frequently, in other parts of the gastrointestinal tract." []
synonym: "Argentaffinoma" [UniProt]
synonym: "Carcinoid" [UniProt]
synonym: "Gastrointestinal carcinoid tumor" [UniProt]
xref: MedGen:C0349535
xref: MeSH:D002276
xref: MIM:114900 "phenotype"
[Term]
id: DI-02615
name: Thyrotoxic periodic paralysis 2
def: "A sporadic muscular disorder characterized by episodic weakness and hypokalemia during a thyrotoxic state. It is clinically similar to hereditary hypokalemic periodic paralysis, except for the fact that hyperthyroidism is an absolute requirement for disease manifestation. The disease presents with recurrent episodes of acute muscular weakness of the four extremities that vary in severity from paresis to complete paralysis. Attacks are triggered by ingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodic paralysis can occur in association with any cause of hyperthyroidism, but is most commonly associated with Graves disease." []
synonym: "Thyrotoxic hypokalemic periodic paralysis" [UniProt]
synonym: "TPP" [UniProt]
xref: MedGen:C2750473
xref: MeSH:D010245
xref: MIM:613239 "phenotype"
[Term]
id: DI-02617
name: Cerebral amyloid angiopathy, ITM2B-related 2
def: "A disorder characterized by amyloid deposition in the walls of the blood vessels of the cerebrum, choroid plexus, cerebellum, spinal cord and retina. Plaques and neurofibrillary tangles are observed in the hippocampus. Clinical features include progressive ataxia, dementia, cataracts and deafness." []
synonym: "Cerebellar ataxia cataract deafness and dementia or psychosis" [UniProt]
synonym: "Familial Danish dementia" [UniProt]
synonym: "FDD" [UniProt]
synonym: "Heredopathia ophthalmootoencephalica" [UniProt]
synonym: "HOOE" [UniProt]
xref: MedGen:C1861735
xref: MeSH:D028243
xref: MIM:117300 "phenotype"
[Term]
id: DI-02618
name: Omodysplasia 1
def: "A rare autosomal recessive skeletal dysplasia characterized by facial dysmorphism and severe congenital micromelia with shortening and distal tapering of the humeri and femora, to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin." []
synonym: "Micromelic dysplasia congenital with dislocation of radius" [UniProt]
synonym: "Omodysplasia autosomal recessive" [UniProt]
synonym: "Omodysplasia generalized form" [UniProt]
xref: MedGen:C1850318
xref: MedGen:C2936816
xref: MeSH:D010009
xref: MIM:258315 "phenotype"
[Term]
id: DI-02619
name: Cerebral amyloid angiopathy, ITM2B-related 1
def: "A disorder characterized by amyloid deposition in the walls of cerebral blood vessels and neurodegeneration in the central nervous system. Cerebral amyloid angiopathy, non-neuritic and perivascular plaques and neurofibrillary tangles are the predominant pathological lesions. Clinical features include progressive mental deterioration, spasticity and muscular rigidity." []
synonym: "Cerebral amyloid angiopathy British type" [UniProt]
synonym: "Familial British dementia" [UniProt]
synonym: "FBD" [UniProt]
synonym: "Presenile dementia with spastic ataxia" [UniProt]
xref: MedGen:C1867773
xref: MeSH:D028243
xref: MIM:176500 "phenotype"
[Term]
id: DI-02620
name: Poikiloderma with neutropenia
def: "A genodermatosis characterized by poikiloderma, pachyonychia and chronic neutropenia. The disorder starts as a papular erythematous rash on the limbs during the first year of life. It gradually spreads centripetally and, as the papular rash resolves, hypo- and hyperpigmentation result, with development of telangiectasias. Another skin manifestation is pachyonychia, but alopecia and leukoplakia are distinctively absent. Patients have recurrent pneumonias that usually result in reactive airway disease and/or chronic cough. One of the most important extracutaneous symptoms is an increased susceptibility to infections, mainly affecting the respiratory system, primarily due to a chronic neutropenia and to neutrophil functional defects. Bone marrow abnormalities account for neutropenia and may evolve into myelodysplasia associated with the risk of leukemic transformation. Poikiloderma with neutropenia shows phenotypic overlap with Rothmund- Thomson syndrome." []
synonym: "Clericuzio-type poikiloderma neutropenia syndrome" [UniProt]
synonym: "Poikiloderma with neutropenia Clericuzio-type" [UniProt]
xref: MedGen:C1858723
xref: MeSH:D012868
xref: MIM:604173 "phenotype"
[Term]
id: DI-02621
name: Joubert syndrome 2
def: "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease." []
synonym: "Cerebello-oculo-renal syndrome 2" [UniProt]
synonym: "Cerebellooculorenal syndrome 2" [UniProt]
synonym: "CORS2" [UniProt]
xref: MedGen:C1842577
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:608091 "phenotype"
[Term]
id: DI-02622
name: Cortical dysplasia, complex, with other brain malformations 7
def: "A malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization." []
synonym: "PMGYSA" [UniProt]
synonym: "Polymicrogyria, symmetric or asymmetric" [UniProt]
xref: MedGen:C2750247
xref: MedGen:C3552236
xref: MeSH:D054220
xref: MIM:610031 "phenotype"
[Term]
id: DI-02623
name: Macrothrombocytopenia, isolated, 1, autosomal dominant
def: "A congenital blood disorder characterized by increased platelet size and decreased number of circulating platelets." []
xref: MedGen:C2751259
xref: MeSH:D013921
xref: MIM:613112 "phenotype"
[Term]
id: DI-02624
name: Arthrogryposis, renal dysfunction and cholestasis syndrome 2
def: "A multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase activity. Platelet dysfunction is common." []
synonym: "Arthrogryposis renal dysfunction and cholestasis 2" [UniProt]
xref: MedGen:C3150672
xref: MeSH:D001176
xref: MeSH:D002779
xref: MeSH:D051437
xref: MIM:613404 "phenotype"
[Term]
id: DI-02625
name: Amyotrophic lateral sclerosis 21
def: "A neurodegenerative disorder affecting upper and lower motor neurons, resulting in muscle weakness and respiratory failure. Some patients may develop myopathic features or dementia." []
synonym: "Distal myopathy 2" [UniProt]
synonym: "Distal myopathy with vocal cord weakness" [UniProt]
synonym: "MPD2" [UniProt]
synonym: "MSP5" [UniProt]
synonym: "Multisystem proteinopathy 5" [UniProt]
synonym: "VCPDM" [UniProt]
synonym: "Vocal cord and pharyngeal dysfunction with distal myopathy" [UniProt]
xref: MedGen:C1853723
xref: MeSH:D000690
xref: MIM:606070 "phenotype"
[Term]
id: DI-02626
name: Pontocerebellar hypoplasia 1A
def: "A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH1A is an autosomal recessive form characterized by an abnormally small cerebellum and brainstem, central and peripheral motor dysfunction from birth, gliosis and spinal cord anterior horn cells degeneration resembling infantile spinal muscular atrophy. Additional features include muscle hypotonia, congenital contractures and respiratory insufficiency that is evident at birth." []
synonym: "Pontocerebellar hypoplasia with anterior horn cell disease" [UniProt]
synonym: "Pontocerebellar hypoplasia with infantile spinal muscular atrophy" [UniProt]
xref: MedGen:C1843504
xref: MeSH:D002526
xref: MIM:607596 "phenotype"
[Term]
id: DI-02627
name: Bifid nose, with or without anorectal and renal anomalies
def: "A disease characterized by the presence of a bifid nose usually associated with renal agenesis and anorectal malformations. A bifid nose is a congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation." []
synonym: "Bifid nose renal agenesis and anorectal malformations syndrome" [UniProt]
xref: MedGen:C2750433
xref: MeSH:D000013
xref: MeSH:D009668
xref: MIM:608980 "phenotype"
[Term]
id: DI-02628
name: Lymphoproliferative syndrome 1
def: "A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Inadequate immune response to EBV can have a fatal outcome. Clinical features include splenomegaly, lymphadenopathy, anemia, thrombocytopenia, pancytopenia, recurrent infections. There is an increased risk for lymphoma." []
synonym: "Lymphoproliferative syndrome, EBV-associated, autosomal, 1" [UniProt]
xref: MedGen:C2751686
xref: MedGen:C3552634
xref: MeSH:D008232
xref: MIM:613011 "phenotype"
[Term]
id: DI-02629
name: Glioma 3
def: "Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes." []
xref: MedGen:C2751641
xref: MeSH:D005910
xref: MIM:613029 "phenotype"
[Term]
id: DI-02630
name: Neurodegeneration due to cerebral folate transport deficiency
def: "An autosomal recessive neurodegenerative disorder resulting from brain-specific folate deficiency early in life. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy and leukodystrophy." []
xref: MedGen:C2751584
xref: MeSH:D019636
xref: MIM:613068 "phenotype"
[Term]
id: DI-02631
name: Neuroblastoma 2
def: "A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system." []
xref: MedGen:C2751682
xref: MedGen:C2751683
xref: MeSH:D009447
xref: MIM:613013 "phenotype"
[Term]
id: DI-02632
name: Neuroblastoma 3
def: "A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system." []
xref: MedGen:C2751681
xref: MeSH:D009447
xref: MIM:613014 "phenotype"
[Term]
id: DI-02633
name: Neuroblastoma 1
def: "A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system." []
xref: MedGen:C0027819
xref: MedGen:C2749484
xref: MedGen:C2749485
xref: MeSH:D009447
xref: MIM:256700 "phenotype"
[Term]
id: DI-02634
name: Liver failure, infantile, transient
def: "A transient disorder of hepatic function characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, increased serum lactate. Patients who survive the initial acute episode can recover, show normal development and have no recurrence." []
synonym: "Acute infantile liver failure" [UniProt]
synonym: "Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect" [UniProt]
xref: MedGen:C2751567
xref: MedGen:C3278664
xref: MeSH:D017093
xref: MIM:613070 "phenotype"
[Term]
id: DI-02635
name: Metaphyseal anadysplasia 1
def: "A bone development disorder characterized by skeletal anomalies that resolve spontaneously with age. Clinical characteristics are evident from the first months of life and include slight shortness of stature and a mild varus deformity of the legs. Patients attain a normal stature in adolescence and show improvement or complete resolution of varus deformity of the legs and rhizomelic micromelia." []
xref: MedGen:C2748495
xref: MeSH:D001848
xref: MIM:602111 "phenotype"
[Term]
id: DI-02636
name: Metaphyseal anadysplasia 2
def: "A bone development disorder characterized by skeletal anomalies that resolve spontaneously with age. Clinical characteristics are evident from the first months of life and include slight shortness of stature and a mild varus deformity of the legs. Patients attain a normal stature in adolescence and show improvement or complete resolution of varus deformity of the legs and rhizomelic micromelia." []
xref: MedGen:C2751322
xref: MeSH:D001848
xref: MIM:613073 "phenotype"
[Term]
id: DI-02637
name: MACS syndrome
def: "A complex disorder of elastic tissue characterized by sagging skin and occasionally by life-threatening visceral complications." []
synonym: "Macrocephaly alopecia cutis laxa and scoliosis syndrome" [UniProt]
synonym: "Tall forehead, sparse hair, skin hyperextensibility, and scoliosis" [UniProt]
xref: MedGen:C2751321
xref: MeSH:D000505
xref: MeSH:D003483
xref: MeSH:D012600
xref: MeSH:D058627
xref: MIM:613075 "phenotype"
[Term]
id: DI-02638
name: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay
def: "A disease characterized by progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay." []
synonym: "Combined mitochondrial complex deficiency" [UniProt]
synonym: "Myopathy with cataract and combined respiratory chain deficiency" [UniProt]
xref: MedGen:C2751320
xref: MeSH:D017240
xref: MIM:613076 "phenotype"
[Term]
id: DI-02639
name: Autoimmune disease, multisystem, with facial dysmorphism
def: "A disorder characterized by organomegaly, failure to thrive, developmental delay, dysmorphic features and autoimmune inflammatory cell infiltration of the lungs, liver and gut." []
synonym: "Syndromic multisystem autoimmune disease" [UniProt]
xref: MedGen:C3150649
xref: MeSH:D001327
xref: MIM:613385 "phenotype"
[Term]
id: DI-02640
name: Corneal dystrophy, posterior polymorphous, 1
def: "A rare corneal disorder characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, an altered corneal endothelial cell structure, and an unusual proliferation of endothelial cells. Symptoms can range from very aggressive to asymptomatic and non-progressive, even within the same family." []
synonym: "CHED1" [UniProt]
synonym: "Corneal endothelial dystrophy 1, autosomal dominant" [UniProt]
synonym: "Hereditary polymorphous posterior corneal dystrophy" [UniProt]
synonym: "Maumenee corneal dystrophy" [UniProt]
synonym: "PPCD" [UniProt]
xref: MedGen:C0339284
xref: MeSH:D003317
xref: MIM:122000 "phenotype"
[Term]
id: DI-02641
name: Osteoarthritis 1
def: "A degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement." []
synonym: "OA" [UniProt]
synonym: "Osteoarthritis of hip female-specific" [UniProt]
synonym: "Osteoarthrosis" [UniProt]
xref: MedGen:C0029408
xref: MeSH:D010003
xref: MIM:165720 "phenotype"
[Term]
id: DI-02642
name: Osteoarthritis 2
def: "A degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement. In the hand, osteoarthritis can develop in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints. Patients with osteoarthritis may have one, a few, or all of these sites affected." []
synonym: "DIPOA" [UniProt]
synonym: "Hand osteoarthritis" [UniProt]
synonym: "Heberden nodes" [UniProt]
synonym: "HOA" [UniProt]
synonym: "OADIP" [UniProt]
synonym: "Osteoarthritis of distal interphalangeal joints" [UniProt]
xref: MedGen:C0018862
xref: MedGen:C0409957
xref: MeSH:D010003
xref: MIM:140600 "phenotype"
[Term]
id: DI-02643
name: Osteoarthritis 3
def: "A degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement." []
synonym: "Osteoarthritis of knee/hip" [UniProt]
xref: MedGen:C2675609
xref: MeSH:D010003
xref: MIM:607850 "phenotype"
[Term]
id: DI-02644
name: Osteoarthritis 5
def: "A degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement." []
synonym: "Osteoarthritis of hip" [UniProt]
xref: MedGen:C0029410
xref: MeSH:D010003
xref: MIM:612400 "phenotype"
[Term]
id: DI-02645
name: Hepatic adenomas familial
def: "Rare benign liver tumors of presumable epithelial origin that develop in an otherwise normal liver. Hepatic adenomas may be single or multiple. They consist of sheets of well-differentiated hepatocytes that contain fat and glycogen and can produce bile. Bile ducts or portal areas are absent. Kupffer cells, if present, are reduced in number and are non-functional. Conditions associated with adenomas are insulin-dependent diabetes mellitus and glycogen storage diseases (types 1 and 3)." []
synonym: "Familial liver cell adenomas" [UniProt]
synonym: "HA" [UniProt]
synonym: "Hepatocellular adenomas" [UniProt]
xref: MedGen:C1840646
xref: MeSH:D018248
xref: MIM:142330 "phenotype"
[Term]
id: DI-02646
name: Hypercalciuria absorptive 2
def: "A common type of hypercalciuria, a condition characterized by excessive urinary calcium excretion. Absorptive hypercalciuria is due to gastrointestinal hyperabsorption of calcium and is a frequent cause of calcium oxalate nephrolithiasis." []
synonym: "Hypercalciuria familial idiopathic" [UniProt]
xref: MedGen:C0342639
xref: MeSH:D053565
xref: MIM:143870 "phenotype"
[Term]
id: DI-02647
name: Essential hypertension
def: "A condition in which blood pressure is consistently higher than normal with no identifiable cause." []
xref: MedGen:C0085580
xref: MeSH:D006973
xref: MIM:145500 "phenotype"
[Term]
id: DI-02648
name: Systemic lupus erythematosus
def: "A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow." []
xref: MedGen:C0024141
xref: MedGen:C1835308
xref: MedGen:C1835309
xref: MeSH:D008180
xref: MIM:152700 "phenotype"
[Term]
id: DI-02649
name: Systemic lupus erythematosus 1
def: "A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow." []
xref: MedGen:C1864265
xref: MedGen:C1866373
xref: MeSH:D008180
xref: MIM:601744 "phenotype"
[Term]
id: DI-02650
name: Systemic lupus erythematosus 2
def: "A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow." []
xref: MedGen:C1854577
xref: MeSH:D008180
xref: MIM:605218 "phenotype"
[Term]
id: DI-02651
name: Systemic lupus erythematosus 9
def: "A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow." []
xref: MedGen:C1970455
xref: MeSH:D008180
xref: MIM:610927 "phenotype"
[Term]
id: DI-02652
name: Systemic lupus erythematosus 10
def: "A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow." []
xref: MedGen:C2677097
xref: MeSH:D008180
xref: MIM:612251 "phenotype"
[Term]
id: DI-02653
name: Systemic lupus erythematosus 11
def: "A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow." []
xref: MedGen:C2677096
xref: MeSH:D008180
xref: MIM:612253 "phenotype"
[Term]
id: DI-02654
name: Systemic lupus erythematosus 6
def: "A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow." []
xref: MedGen:C1835919
xref: MeSH:D008180
xref: MIM:609939 "phenotype"
[Term]
id: DI-02655
name: Inflammatory bowel disease 17
def: "A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints." []
xref: MedGen:C2677091
xref: MeSH:D015212
xref: MIM:612261 "phenotype"
[Term]
id: DI-02656
name: Inflammatory bowel disease 14
def: "A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints." []
xref: MedGen:C2677100
xref: MeSH:D015212
xref: MIM:612245 "phenotype"
[Term]
id: DI-02657
name: Inflammatory bowel disease 13
def: "A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints." []
xref: MedGen:C2677101
xref: MeSH:D015212
xref: MIM:612244 "phenotype"
[Term]
id: DI-02658
name: Inflammatory bowel disease 10
def: "A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints." []
synonym: "Inflammatory bowel disease (Crohn disease) 10" [UniProt]
xref: MedGen:C1970207
xref: MeSH:D015212
xref: MIM:611081 "phenotype"
[Term]
id: DI-02659
name: Osteoporosis
def: "A systemic skeletal disorder characterized by decreased bone mass and deterioration of bone microarchitecture without alteration in the composition of bone. The result is fragile bones and an increased risk of fractures, even after minimal trauma. Osteoporosis is a chronic condition of multifactorial etiology and is usually clinically silent until a fracture occurs." []
synonym: "Involutional osteoporosis" [UniProt]
synonym: "Postmenopausal osteoporosis" [UniProt]
synonym: "Senile osteoporosis" [UniProt]
xref: MedGen:C0029456
xref: MedGen:C0029458
xref: MedGen:C0029459
xref: MedGen:C2674640
xref: MeSH:D010024
xref: MIM:166710 "phenotype"
[Term]
id: DI-02660
name: Prostate cancer, hereditary, 13
def: "A condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma." []
synonym: "Familial prostate cancer 13" [UniProt]
xref: MedGen:C2677821
xref: MeSH:D011471
xref: MIM:611928 "phenotype"
[Term]
id: DI-02661
name: Prostate cancer, hereditary, 12
def: "A condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma." []
synonym: "Familial prostate cancer 12" [UniProt]
xref: MedGen:C2678479
xref: MeSH:D011471
xref: MIM:611868 "phenotype"
[Term]
id: DI-02662
name: Prostate cancer, hereditary, 11
def: "A condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma." []
synonym: "Familial prostate cancer 11" [UniProt]
xref: MedGen:C2677773
xref: MeSH:D011471
xref: MIM:611955 "phenotype"
[Term]
id: DI-02663
name: Prostate cancer
def: "A malignancy originating in tissues of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma." []
synonym: "PRCA" [UniProt]
xref: MedGen:C0376358
xref: MeSH:D011471
xref: MIM:176807 "phenotype"
[Term]
id: DI-02664
name: Factor II deficiency
def: "A very rare blood coagulation disorder characterized by mucocutaneous bleeding symptoms. The severity of the bleeding manifestations correlates with blood factor II levels." []
synonym: "Dysprothrombinemia" [UniProt]
synonym: "Hypoprothrombinemia" [UniProt]
synonym: "Prothrombin deficiency" [UniProt]
xref: MedGen:C0020640
xref: MedGen:C0272317
xref: MeSH:D007020
xref: MIM:613679 "phenotype"
[Term]
id: DI-02665
name: Thrombophilia due to thrombin defect
def: "A multifactorial disorder of hemostasis characterized by abnormal platelet aggregation in response to various agents and recurrent thrombi formation." []
synonym: "Thrombophilia due to factor 2 defect" [UniProt]
synonym: "Venous thromboembolism" [UniProt]
synonym: "Venous thrombosis" [UniProt]
xref: MedGen:C0398623
xref: MedGen:C1861172
xref: MeSH:D019851
xref: MIM:188050 "phenotype"
[Term]
id: DI-02666
name: Plasminogen deficiency
def: "A disorder characterized by decreased serum plasminogen activity. Two forms of the disorder are distinguished: type 1 deficiency is additionally characterized by decreased plasminogen antigen levels and clinical symptoms, whereas type 2 deficiency, also known as dysplasminogenemia, is characterized by normal, or slightly reduced antigen levels, and absence of clinical manifestations. Plasminogen deficiency type 1 results in markedly impaired extracellular fibrinolysis and chronic mucosal pseudomembranous lesions due to subepithelial fibrin deposition and inflammation. The most common clinical manifestation of type 1 deficiency is ligneous conjunctivitis in which pseudomembranes formation on the palpebral surfaces of the eye progresses to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa." []
synonym: "Dysplasminogenemia" [UniProt]
synonym: "Hypoplasminogenemia" [UniProt]
synonym: "Ligneous conjunctivitis" [UniProt]
synonym: "Plasminogen deficiency type I" [UniProt]
synonym: "Plasminogen deficiency type II" [UniProt]
xref: MedGen:C0521808
xref: MedGen:C1274789
xref: MedGen:C1968804
xref: MeSH:D003231
xref: MIM:217090 "phenotype"
[Term]
id: DI-02667
name: Exfoliation syndrome
def: "A disorder characterized by accumulation of abnormal fibrillar deposits in the anterior segment of the eye. In addition to being a cause of glaucoma and glaucomatous optic neuropathy, exfoliation syndrome has also been associated with lens zonule weakness, cataract formation, and systemic vascular complications due to deposition of exfoliation material in extraocular tissues." []
synonym: "Exfoliation glaucoma" [UniProt]
synonym: "Exfoliative syndrome" [UniProt]
synonym: "Glaucoma capsulare" [UniProt]
synonym: "PEX" [UniProt]
synonym: "Pseudo-exfoliation syndrome" [UniProt]
synonym: "Pseudoexfoliation of the lens" [UniProt]
synonym: "Pseudoexfoliation syndrome" [UniProt]
synonym: "XFG" [UniProt]
xref: MedGen:C0206368
xref: MeSH:D017889
xref: MIM:177650 "phenotype"
[Term]
id: DI-02668
name: Psoriasis 7
def: "A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis." []
synonym: "Psoriasis" [UniProt]
synonym: "Psoriasis vulgaris" [UniProt]
synonym: "PV" [UniProt]
xref: MedGen:C1854124
xref: MeSH:D011565
xref: MIM:605606 "phenotype"
[Term]
id: DI-02669
name: Psoriasis 11
def: "A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis." []
synonym: "Psoriasis" [UniProt]
synonym: "Psoriasis vulgaris" [UniProt]
synonym: "PV" [UniProt]
xref: MedGen:C2675475
xref: MeSH:D011565
xref: MIM:612599 "phenotype"
[Term]
id: DI-02670
name: Interstitial lung disease 2
def: "A form of interstitial lung disease, a heterogeneous group of diseases affecting the distal part of the lung and characterized by a progressive remodeling of the alveolar interstitium. The disease spectrum ranges from idiopathic interstitial pneumonia or pneumonitis to idiopathic pulmonary fibrosis, that is associated with an increased risk of developing lung cancer. Clinical features of interstitial lung disease include dyspnea, clubbing of the fingers, and restrictive lung capacity. ILD2 inheritance is autosomal dominant." []
synonym: "Fibrocystic pulmonary dysplasia" [UniProt]
synonym: "Fibrosing alveolitis cryptogenic" [UniProt]
synonym: "Hamman-Rich disease" [UniProt]
synonym: "Idiopathic pulmonary fibrosis familial" [UniProt]
synonym: "Interstitial pneumonitis usual" [UniProt]
synonym: "IPF" [UniProt]
synonym: "Pulmonary fibrosis, idiopathic" [UniProt]
synonym: "UIP" [UniProt]
xref: MedGen:C0085786
xref: MedGen:C1960051
xref: MeSH:D054990
xref: MIM:178500 "phenotype"
[Term]
id: DI-02671
name: Charcot-Marie-Tooth disease, axonal, 2B2
def: "A recessive axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy." []
synonym: "ARCMT2B" [UniProt]
synonym: "Charcot-Marie-Tooth disease axonal autosomal recessive B2" [UniProt]
synonym: "Charcot-Marie-Tooth disease axonal type 2B2" [UniProt]
synonym: "Charcot-Marie-Tooth disease neuronal type 2B2" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 2B2" [UniProt]
xref: MedGen:C1854150
xref: MeSH:D002607
xref: MIM:605589 "phenotype"
[Term]
id: DI-02672
name: Retinitis pigmentosa 33
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C1835895
xref: MeSH:D012174
xref: MIM:610359 "phenotype"
[Term]
id: DI-02673
name: Inflammatory bowel disease 25, autosomal recessive
def: "A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints." []
synonym: "Early-onset autosomal recessive inflammatory bowel disease" [UniProt]
xref: MedGen:C2675508
xref: MeSH:D015212
xref: MIM:612567 "phenotype"
[Term]
id: DI-02674
name: Inflammatory bowel disease 28, autosomal recessive
def: "A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints." []
synonym: "Early-onset autosomal recessive inflammatory bowel disease" [UniProt]
xref: MedGen:C2751053
xref: MeSH:D015212
xref: MIM:613148 "phenotype"
[Term]
id: DI-02675
name: Spinocerebellar ataxia 28
def: "Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA28 is an autosomal dominant cerebellar ataxia (ADCA) with a slow progressive course and no evidence of sensory involvement or cognitive impairment." []
xref: MedGen:C1853249
xref: MeSH:D020754
xref: MIM:610246 "phenotype"
[Term]
id: DI-02676
name: Waardenburg syndrome 4C
def: "A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease)." []
synonym: "Hirschsprung disease with pigmentary anomaly" [UniProt]
synonym: "Shah-Waardenburg syndrome" [UniProt]
synonym: "Waardenburg syndrome type IVC" [UniProt]
synonym: "Waardenburg syndrome with Hirschsprung disease type 4C" [UniProt]
synonym: "Waardenburg-Shah syndrome" [UniProt]
xref: MedGen:C2750452
xref: MeSH:D014849
xref: MIM:613266 "phenotype"
[Term]
id: DI-02677
name: Waardenburg syndrome 4B
def: "A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease)." []
synonym: "Hirschsprung disease with pigmentary anomaly" [UniProt]
synonym: "Shah-Waardenburg syndrome" [UniProt]
synonym: "Waardenburg syndrome type IVB" [UniProt]
synonym: "Waardenburg syndrome with Hirschsprung disease type 4B" [UniProt]
synonym: "Waardenburg-Shah syndrome" [UniProt]
xref: MedGen:C2750457
xref: MeSH:D014849
xref: MIM:613265 "phenotype"
[Term]
id: DI-02678
name: Charcot-Marie-Tooth disease, axonal, 2N
def: "An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy." []
synonym: "Charcot-Marie-Tooth disease axonal autosomal dominant type 2N" [UniProt]
synonym: "Charcot-Marie-Tooth disease axonal type 2N" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy axonal type 2N" [UniProt]
xref: MedGen:C2750090
xref: MeSH:D002607
xref: MIM:613287 "phenotype"
[Term]
id: DI-02679
name: Cardiomyopathy, familial hypertrophic, 15
def: "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death." []
xref: MedGen:C2750459
xref: MeSH:D024741
xref: MIM:613255 "phenotype"
[Term]
id: DI-02680
name: Cardiomyopathy, familial hypertrophic, 14
def: "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death." []
xref: MedGen:C2750467
xref: MeSH:D024741
xref: MIM:613251 "phenotype"
[Term]
id: DI-02681
name: Cardiomyopathy, dilated, 1FF
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C2750091
xref: MeSH:D002311
xref: MIM:613286 "phenotype"
[Term]
id: DI-02682
name: Cardiomyopathy, dilated, 1EE
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C2750466
xref: MeSH:D002311
xref: MIM:613252 "phenotype"
[Term]
id: DI-02683
name: Leber congenital amaurosis 14
def: "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus." []
synonym: "Retinitis pigmentosa juvenile LRAT-related" [UniProt]
synonym: "Severe early-onset retinal dystrophy LRAT-related" [UniProt]
xref: MedGen:C2750063
xref: MedGen:C2750064
xref: MedGen:C2750065
xref: MeSH:D057130
xref: MIM:613341 "phenotype"
[Term]
id: DI-02684
name: Diamond-Blackfan anemia 9
def: "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies." []
xref: MedGen:C2750081
xref: MeSH:D029503
xref: MIM:613308 "phenotype"
[Term]
id: DI-02685
name: Diamond-Blackfan anemia 10
def: "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies." []
xref: MedGen:C2750080
xref: MeSH:D029503
xref: MIM:613309 "phenotype"
[Term]
id: DI-02686
name: Vitreoretinopathy, exudative 5
def: "A disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery." []
xref: MedGen:C2750079
xref: MeSH:D012164
xref: MIM:613310 "phenotype"
[Term]
id: DI-02687
name: Charcot-Marie-Tooth disease, axonal, 2C
def: "An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy." []
synonym: "Charcot-Marie-Tooth disease axonal autosomal dominant 2C" [UniProt]
synonym: "Charcot-Marie-Tooth disease axonal type 2C" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 2C" [UniProt]
synonym: "Hereditary motor and sensory neuropathy type IIC" [UniProt]
synonym: "HMSN IIC" [UniProt]
synonym: "HMSN2C" [UniProt]
xref: MedGen:C1853710
xref: MedGen:C2079540
xref: MeSH:D002607
xref: MIM:606071 "phenotype"
[Term]
id: DI-02688
name: Neuronopathy, distal hereditary motor, autosomal dominant 8
def: "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs." []
synonym: "DHMN8" [UniProt]
synonym: "Distal spinal muscular atrophy, congenital non-progressive" [UniProt]
synonym: "HMN8" [UniProt]
synonym: "Neuronopathy, distal hereditary motor, 8" [UniProt]
synonym: "Neuropathy, distal hereditary motor, type VIII" [UniProt]
synonym: "Spinal muscular atrophy congenital benign with contractures" [UniProt]
xref: MedGen:C1838492
xref: MeSH:D009134
xref: MIM:600175 "phenotype"
[Term]
id: DI-02689
name: Scapuloperoneal spinal muscular atrophy
def: "A clinically variable neuromuscular disorder characterized by neurogenic scapuloperoneal amyotrophy, laryngeal palsy, congenital absence of muscles, progressive scapuloperoneal atrophy and progressive distal weakness and amyotrophy." []
synonym: "Amyotrophy neurogenic scapuloperoneal New England type" [UniProt]
xref: MedGen:C0751335
xref: MeSH:D009134
xref: MIM:181405 "phenotype"
[Term]
id: DI-02690
name: Deafness, X-linked, 1
def: "A form of deafness characterized by progressive, severe-to-profound sensorineural hearing loss in males. Females manifest mild to moderate hearing loss." []
synonym: "Congenital sensorineural deafness X-linked 2" [UniProt]
synonym: "DFN2" [UniProt]
xref: MedGen:C1844677
xref: MeSH:D006319
xref: MIM:304500 "phenotype"
[Term]
id: DI-02691
name: Deafness, autosomal recessive, 84A
def: "A form of non-syndromic deafness characterized by progressive, sensorineural hearing loss and vestibular dysfunction." []
synonym: "Deafness autosomal recessive 84" [UniProt]
synonym: "Deafness autosomal recessive 84A with vestibular dysfunction" [UniProt]
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 84" [UniProt]
xref: MedGen:C3150654
xref: MeSH:D006319
xref: MIM:613391 "phenotype"
[Term]
id: DI-02692
name: Rheumatoid arthritis
def: "An inflammatory disease with autoimmune features and a complex genetic component. It primarily affects the joints and is characterized by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures." []
xref: MedGen:C0003873
xref: MeSH:D001172
xref: MIM:180300 "phenotype"
[Term]
id: DI-02693
name: Hyperaldosteronism, familial, 1
def: "A disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol. There is significant phenotypic heterogeneity, and some individuals never develop hypertension." []
synonym: "ACTH-dependent hyperaldosteronism syndrome" [UniProt]
synonym: "Aldosteronism sensitive to dexamethasone" [UniProt]
synonym: "Dexamethasone sensitive hypertension" [UniProt]
synonym: "Familial hyperaldosteronism 1" [UniProt]
synonym: "Familial hyperaldosteronism type I" [UniProt]
synonym: "FH I" [UniProt]
synonym: "FH type 1" [UniProt]
synonym: "FH1" [UniProt]
synonym: "Glucocorticoid sensitive hypertension" [UniProt]
synonym: "Glucocorticoid-remediable aldosteronism" [UniProt]
synonym: "Glucocorticoid-suppressible hyperaldosteronism" [UniProt]
synonym: "GRA" [UniProt]
synonym: "GSH" [UniProt]
xref: MedGen:C1260386
xref: MeSH:D006929
xref: MIM:103900 "phenotype"
[Term]
id: DI-02694
name: Alzheimer disease 2
def: "A late-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death." []
synonym: "Alzheimer disease associated with APOE4" [UniProt]
synonym: "Late-onset Alzheimer disease" [UniProt]
xref: MedGen:C1863051
xref: MeSH:D000544
xref: MIM:104310 "phenotype"
[Term]
id: DI-02695
name: Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
def: "A neurodegenerative disorder characterized by chronic, progressive and uniformly fatal amyotrophic lateral sclerosis and parkinsonism- dementia. Both diseases are known to occur in the same kindred, the same sibship and even the same individual." []
synonym: "ALS/PDC of Guam" [UniProt]
synonym: "Amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam" [UniProt]
synonym: "Guam disease" [UniProt]
xref: MedGen:C0543859
xref: MeSH:D000690
xref: MeSH:D020734
xref: MIM:105500 "phenotype"
[Term]
id: DI-02696
name: Spondyloarthropathy 1
def: "A chronic rheumatic disease with multifactorial inheritance. It includes a spectrum of related disorders comprising ankylosing spondylitis, a subset of psoriatic arthritis, reactive arthritis (e.g. Reiter syndrome), arthritis associated with inflammatory bowel disease and undifferentiated spondyloarthropathy. These disorders may occur simultaneously or sequentially in the same patient, probably representing various phenotypic expressions of the same disease. Ankylosing spondylitis is the form of rheumatoid arthritis affecting the spine and is considered the prototype of seronegative spondyloarthropathies. It produces pain and stiffness as a result of inflammation of the sacroiliac, intervertebral, and costovertebral joints." []
synonym: "Ankylosing spondylarthritis" [UniProt]
synonym: "Ankylosing spondylitis" [UniProt]
synonym: "Bechterew Syndrome" [UniProt]
synonym: "Marie-Strumpell spondylitis" [UniProt]
synonym: "Psoriatic arthritis" [UniProt]
synonym: "Reactive arthritis" [UniProt]
synonym: "Reiter syndrome" [UniProt]
synonym: "Rheumatoid spondylitis" [UniProt]
synonym: "Spondylarthritis ankylopoietica" [UniProt]
synonym: "Spondylitis ankylosans" [UniProt]
xref: MedGen:C0949691
xref: MedGen:C1862852
xref: MeSH:D012058
xref: MeSH:D013167
xref: MeSH:D015535
xref: MeSH:D016918
xref: MIM:106300 "phenotype"
[Term]
id: DI-02697
name: Psoriatic arthritis
def: "An inflammatory, seronegative arthritis associated with psoriasis. It is a heterogeneous disorder ranging from a mild, non-destructive disease to a severe, progressive, erosive arthropathy. Five types of psoriatic arthritis have been defined: asymmetrical oligoarthritis characterized by primary involvement of the small joints of the fingers or toes; asymmetrical arthritis which involves the joints of the extremities; symmetrical polyarthritis characterized by a rheumatoid like pattern that can involve hands, wrists, ankles, and feet; arthritis mutilans, which is a rare but deforming and destructive condition; arthritis of the sacroiliac joints and spine (psoriatic spondylitis)." []
synonym: "Arthritic psoriasis" [UniProt]
synonym: "Psoriasis arthropathica" [UniProt]
synonym: "Psoriatic arthropathy" [UniProt]
xref: MedGen:C1835223
xref: MedGen:C1843772
xref: MeSH:D015535
xref: MIM:607507 "phenotype"
[Term]
id: DI-02698
name: Thyroid cancer, non-medullary, 1
def: "A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms." []
synonym: "Familial non-medullary thyroid cancer" [UniProt]
synonym: "Familial nonmedullary thyroid cancer, papillary" [UniProt]
synonym: "FNMTC" [UniProt]
synonym: "NMTC" [UniProt]
synonym: "Non-medullary thyroid carcinoma" [UniProt]
synonym: "Nonmedullary thyroid carcinoma" [UniProt]
synonym: "Nonmedullary thyroid carcinoma, papillary" [UniProt]
synonym: "PACT" [UniProt]
synonym: "Papillary carcinoma of thyroid" [UniProt]
synonym: "PTC" [UniProt]
synonym: "TPC" [UniProt]
xref: MedGen:C0238463
xref: MeSH:D013964
xref: MIM:188550 "phenotype"
[Term]
id: DI-02699
name: Rhabdomyosarcoma 2
def: "A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas." []
synonym: "Rhabdomyosarcoma alveolar" [UniProt]
synonym: "RMSA" [UniProt]
xref: MedGen:C0206655
xref: MeSH:D018232
xref: MIM:268220 "phenotype"
[Term]
id: DI-02700
name: Multiple myeloma
def: "A malignant tumor of plasma cells usually arising in the bone marrow and characterized by diffuse involvement of the skeletal system, hyperglobulinemia, Bence-Jones proteinuria and anemia. Complications of multiple myeloma are bone pain, hypercalcemia, renal failure and spinal cord compression. The aberrant antibodies that are produced lead to impaired humoral immunity and patients have a high prevalence of infection. Amyloidosis may develop in some patients. Multiple myeloma is part of a spectrum of diseases ranging from monoclonal gammopathy of unknown significance (MGUS) to plasma cell leukemia." []
xref: MedGen:C0026764
xref: MedGen:C0268381
xref: MeSH:D009101
xref: MIM:254500 "phenotype"
[Term]
id: DI-02701
name: Muscular dystrophy congenital due to integrin alpha-7 deficiency
def: "A form of congenital muscular dystrophy. Patients present at birth, or within the first few months of life, with hypotonia, muscle weakness and often with joint contractures." []
synonym: "Congenital myopathy due to integrin alpha-7 deficiency" [UniProt]
xref: MedGen:C2750786
xref: MedGen:CN187051
xref: MeSH:D009136
xref: MIM:613204 "phenotype"
[Term]
id: DI-02702
name: Muscular dystrophy congenital LMNA-related
def: "A form of congenital muscular dystrophy. Patients present at birth, or within the first few months of life, with hypotonia, muscle weakness and often with joint contractures." []
xref: MedGen:C2750785
xref: MeSH:D009136
xref: MIM:613205 "phenotype"
[Term]
id: DI-02703
name: Muscular dystrophy, limb-girdle, autosomal recessive 12
def: "An autosomal recessive degenerative myopathy characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy." []
synonym: "LGMD2L" [UniProt]
synonym: "Limb-girdle muscular dystrophy 2L" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 2L" [UniProt]
xref: MedGen:C1969785
xref: MeSH:D049288
xref: MIM:611307 "phenotype"
[Term]
id: DI-02704
name: Miyoshi muscular dystrophy 3
def: "A late-onset muscular dystrophy characterized by distal muscle weakness of the lower limbs, calf muscle discomfort and weakness, quadriceps atrophy. Muscle weakness and atrophy may be asymmetric." []
synonym: "Miyoshi myopathy 3" [UniProt]
xref: MedGen:C2750076
xref: MeSH:D049310
xref: MIM:613319 "phenotype"
[Term]
id: DI-02705
name: Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia
def: "A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS12 inheritance can be autosomal dominant or autosomal recessive. There is also sporadic occurrence. ALS12 patients may develop frontotemporal dementia." []
xref: MedGen:C3150692
xref: MeSH:D000690
xref: MeSH:D057180
xref: MIM:613435 "phenotype"
[Term]
id: DI-02706
name: Deafness, autosomal recessive, 91
def: "A form of non-syndromic deafness characterized by progressive and age- dependent sensorineural hearing loss. Vestibular function is normal." []
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 91" [UniProt]
xref: MedGen:C3150704
xref: MeSH:D006319
xref: MIM:613453 "phenotype"
[Term]
id: DI-02707
name: Retinitis pigmentosa 51
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C3150715
xref: MeSH:D012174
xref: MIM:613464 "phenotype"
[Term]
id: DI-02708
name: Retinitis pigmentosa 54
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C3150691
xref: MeSH:D012174
xref: MIM:613428 "phenotype"
[Term]
id: DI-02709
name: Frontonasal dysplasia 2
def: "The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline." []
xref: MedGen:C3150703
xref: MeSH:D000013
xref: MIM:613451 "phenotype"
[Term]
id: DI-02710
name: Frontonasal dysplasia 3
def: "The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline." []
xref: MedGen:C3150706
xref: MeSH:D000013
xref: MIM:613456 "phenotype"
[Term]
id: DI-02711
name: Brachydactyly E2
def: "A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. Wide variability in the number of digits affected occurs from person to person, even in the same family. Some individuals are moderately short of stature. In brachydactyly type E2 variable combinations of metacarpals are involved, with shortening also of the first and third distal and the second and fifth middle phalanges." []
xref: MedGen:C3150644
xref: MeSH:D059327
xref: MIM:613382 "phenotype"
[Term]
id: DI-02712
name: Polycythemia vera
def: "A myeloproliferative disorder characterized by abnormal proliferation of all hematopoietic bone marrow elements, erythroid hyperplasia, an absolute increase in total blood volume, but also by myeloid leukocytosis, thrombocytosis and splenomegaly." []
synonym: "Osler-Vaquez disease" [UniProt]
synonym: "Polycythemia rubra vera" [UniProt]
synonym: "PRV" [UniProt]
xref: MedGen:C0032463
xref: MeSH:D011087
xref: MIM:263300 "phenotype"
[Term]
id: DI-02713
name: Non-arteritic anterior ischemic optic neuropathy
def: "An autosomal recessive ocular disease due to ischemic injury to the optic nerve. It usually affects the optic disk and leads to visual loss and optic disk swelling of a pallid nature. Visual loss is usually sudden, or over a few days at most and is usually permanent, with some recovery possibly occurring within the first weeks or months. Patients with small disks having smaller or non-existent cups have an anatomical predisposition for non-arteritic anterior ischemic optic neuropathy. As an ischemic episode evolves, the swelling compromises circulation, with a spiral of ischemia resulting in further neuronal damage." []
synonym: "AION" [UniProt]
synonym: "Anterior ischemic optic neuropathy" [UniProt]
xref: MedGen:C1847711
xref: MeSH:D018917
xref: MIM:258660 "phenotype"
[Term]
id: DI-02714
name: Alveolar capillary dysplasia with misalignment of pulmonary veins
def: "A rare developmental disorder characterized by abnormal development of the capillary vascular system in the lungs. Histological features include failure of formation and ingrowth of alveolar capillaries, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. Affected infants present with respiratory distress and the disease is fatal within the newborn period. Additional features include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right- left asymmetry of intrathoracic or intraabdominal organs. ACDMPV is a rare cause of persistent pulmonary hypertension of the newborn, an abnormal physiologic state caused by failure of transition of the pulmonary circulation from the high pulmonary vascular resistance of the fetus to the low pulmonary vascular resistance of the newborn." []
synonym: "ACD" [UniProt]
synonym: "Alveolar capillary dysplasia" [UniProt]
synonym: "Alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies" [UniProt]
xref: MedGen:C0031190
xref: MeSH:D010547
xref: MIM:265380 "phenotype"
[Term]
id: DI-02715
name: Cranioectodermal dysplasia 1
def: "A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include dolichocephaly (with or without sagittal suture synostosis), scaphocephaly, short stature, limb shortening, short ribs, narrow chest, brachydactyly, renal failure and hepatic fibrosis, small and abnormally shaped teeth, sparse hair, skin laxity and abnormal nails." []
synonym: "Cranio-ectodermal dysplasia" [UniProt]
synonym: "Levin syndrome I" [UniProt]
synonym: "Sensenbrenner syndrome" [UniProt]
xref: MedGen:C0432235
xref: MeSH:D004476
xref: MIM:218330 "phenotype"
[Term]
id: DI-02716
name: Respiratory distress syndrome in premature infants
def: "A lung disease affecting usually premature newborn infants. It is characterized by deficient gas exchange, diffuse atelectasis, high- permeability lung edema and fibrin-rich alveolar deposits called 'hyaline membranes'." []
synonym: "Hyaline membrane disease" [UniProt]
synonym: "RDS in prematurity" [UniProt]
xref: MedGen:C1968593
xref: MeSH:D006819
xref: MIM:267450 "phenotype"
[Term]
id: DI-02717
name: Dental anomalies and short stature
def: "A disorder characterized by hypoplastic amelogenesis imperfecta, significant short stature, brachyolmia-like anomalies including platyspondyly with short pedicles, narrow intervertebral and interpedicular distances, rectangular-shaped vertebrae with posterior scalloping and herniation of the nuclei, and broad femoral necks. Dental anomalies include widely spaced, small, yellow teeth, oligodontia, and severely reduced to absent enamel." []
synonym: "Brachyolmia-amelogenesis imperfecta syndrome" [UniProt]
synonym: "Platyspondyly with amelogenesis imperfecta" [UniProt]
synonym: "STHAG6" [UniProt]
synonym: "Tooth agenesis, selective, 6" [UniProt]
synonym: "VBS" [UniProt]
synonym: "Verloes Bourguignon syndrome" [UniProt]
xref: MedGen:C1832594
xref: MeSH:D000567
xref: MeSH:D010009
xref: MIM:601216 "phenotype"
[Term]
id: DI-02718
name: Hypotrichosis 1
def: "A rare form of non-syndromic hereditary hypotrichosis without characteristic hair shaft anomalies. Affected individuals typically show normal hair at birth, but hair loss and thinning of the hair shaft start during early childhood and progress with age. HYPT1 inheritance is autosomal dominant." []
synonym: "Generalized hypothricosis simplex" [UniProt]
synonym: "HHS" [UniProt]
synonym: "HTS" [UniProt]
synonym: "Hypotrichosis simplex" [UniProt]
synonym: "Hypotrichosis simplex hereditary" [UniProt]
xref: MedGen:C1854310
xref: MeSH:D007039
xref: MIM:605389 "phenotype"
[Term]
id: DI-02719
name: Achondrogenesis 1A
def: "A form of achondrogenesis type 1, a lethal form of chondrodysplasia characterized by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues." []
synonym: "ACG-IA" [UniProt]
synonym: "Achondrogenesis Houston-Harris type" [UniProt]
synonym: "Achondrogenesis type IA" [UniProt]
xref: MedGen:C0265273
xref: MeSH:D010009
xref: MIM:200600 "phenotype"
[Term]
id: DI-02720
name: Methemoglobinemia and ambiguous genitalia
def: "An autosomal recessive disorder characterized by sex steroid deficiency but normal glucocorticoid and mineralocorticoid reserve, male undermasculinization, absent or disturbed pubertal development, decreased levels of erythrocyte cytochrome B5, and excessive amounts of methemoglobin in blood cells resulting in cyanosis and hypoxia." []
synonym: "Isolated 17,20-lyase deficiency, pure" [UniProt]
synonym: "Methemoglobinemia due to deficiency of cytochrome b5" [UniProt]
synonym: "Methemoglobinemia type IV" [UniProt]
xref: MedGen:C2673427
xref: MeSH:D008708
xref: MIM:250790 "phenotype"
[Term]
id: DI-02721
name: Lymphoma, Hodgkin, classic
def: "A malignant disease characterized by progressive enlargement of the lymph nodes, spleen and general lymphoid tissue, and the presence of large, usually multinucleate, cells (Reed-Sternberg cells). Reed- Sternberg cells compose only 1-2% of the total tumor cell mass. The remainder is composed of a variety of reactive, mixed inflammatory cells consisting of lymphocytes, plasma cells, neutrophils, eosinophils and histiocytes." []
synonym: "Hodgkin disease" [UniProt]
xref: MedGen:C0019829
xref: MeSH:D006689
xref: MIM:236000 "phenotype"
[Term]
id: DI-02722
name: Woolly hair autosomal dominant
def: "A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends." []
xref: MedGen:C1860238
xref: MeSH:D006201
xref: MIM:194300 "phenotype"
[Term]
id: DI-02723
name: Woolly hair autosomal recessive 2
def: "A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. Some individuals may present with hypotrichosis." []
synonym: "WH/HT" [UniProt]
synonym: "Woolly hair autosomal recessive 2 with or without hypotrichosis" [UniProt]
xref: MedGen:C3148823
xref: MedGen:C3148824
xref: MeSH:D006201
xref: MIM:604379 "phenotype"
[Term]
id: DI-02724
name: Lynch syndrome 8
def: "A form of Lynch syndrome, an autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. Lynch syndrome is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, it is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical Lynch syndrome is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected Lynch syndrome' or 'incomplete Lynch syndrome' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected." []
synonym: "Hereditary non-polyposis colorectal cancer 8" [UniProt]
synonym: "HNPCC8" [UniProt]
xref: MedGen:C2750471
xref: MeSH:D003123
xref: MIM:613244 "phenotype"
[Term]
id: DI-02725
name: Osteogenesis imperfecta 6
def: "A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI6 is a severe, autosomal recessive form compatible with OI type III in the Sillence classification." []
synonym: "OI type VI" [UniProt]
synonym: "OI-VI" [UniProt]
synonym: "Osteogenesis imperfecta type VI" [UniProt]
xref: MedGen:C3279564
xref: MeSH:D010013
xref: MIM:613982 "phenotype"
[Term]
id: DI-02726
name: Leukoencephalopathy, cystic, without megalencephaly
def: "An infantile-onset syndrome of cerebral leukoencephalopathy. Affected newborns develop microcephaly and neurologic abnormalities including psychomotor impairment, seizures and sensorineural hearing impairment. The brain shows multifocal white matter lesions, anterior temporal lobe subcortical cysts, pericystic abnormal myelination, ventriculomegaly and intracranial calcifications." []
xref: MedGen:C2751843
xref: MeSH:D056784
xref: MIM:612951 "phenotype"
[Term]
id: DI-02727
name: Brown-Vialetto-Van Laere syndrome 1
def: "A rare neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, which develop over a relatively short period of time in a previously healthy individual. Sensorineural hearing loss may precede the neurological signs. The course is invariably progressive, but the rate of decline is variable within and between families. With disease evolution, long tract signs, lower motor neuron signs, cerebellar ataxia and lower cranial nerve (III-VI) palsies develop, giving rise to a complex picture resembling amyotrophic lateral sclerosis. Diaphragmatic weakness and respiratory compromise are some of the most distressing features, leading to recurrent chest infections and respiratory failure, which are often the cause of patients' demise." []
synonym: "Bulbar palsy progressive with sensorineural deafness" [UniProt]
synonym: "Pontobulbar palsy with deafness" [UniProt]
xref: MedGen:C0796274
xref: MeSH:D006319
xref: MeSH:D010244
xref: MIM:211530 "phenotype"
[Term]
id: DI-02728
name: Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4
def: "An autosomal recessive disorder characterized by congenital muscular dystrophy and evidence of dystroglycanopathy. Features included increased serum creatine kinase, generalized weakness, mild white matter changes on brain MRI, and absence of intellectual disability." []
synonym: "Muscular dystrophy congenital FKTN-related" [UniProt]
xref: MedGen:C2751052
xref: MeSH:D009136
xref: MIM:613152 "phenotype"
[Term]
id: DI-02729
name: Ring dermoid of cornea
def: "An ocular disorder characterized by bilateral annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension." []
xref: MedGen:C1867155
xref: MeSH:D003884
xref: MIM:180550 "phenotype"
[Term]
id: DI-02730
name: Rubinstein-Taybi syndrome 1
def: "A disorder characterized by craniofacial abnormalities, postnatal growth deficiency, broad thumbs, broad big toes, intellectual disability and a propensity for development of malignancies." []
synonym: "Broad thumb-hallux syndrome" [UniProt]
synonym: "RSTS" [UniProt]
synonym: "Rubinstein syndrome" [UniProt]
xref: MedGen:C0035934
xref: MeSH:D012415
xref: MIM:180849 "phenotype"
[Term]
id: DI-02731
name: Sarcoidosis 1
def: "An idiopathic, systemic, inflammatory disease characterized by the formation of immune granulomas in involved organs. Granulomas predominantly invade the lungs and the lymphatic system, but also skin, liver, spleen, eyes and other organs may be involved." []
synonym: "Besnier-Boeck-Schaumann disease" [UniProt]
synonym: "Boeck sarcoid" [UniProt]
synonym: "Sarcoidosis" [UniProt]
xref: MedGen:C2697310
xref: MedGen:CN034668
xref: MeSH:D012507
xref: MIM:181000 "phenotype"
[Term]
id: DI-02732
name: Sarcoidosis 2
def: "An idiopathic, systemic, inflammatory disease characterized by the formation of immune granulomas in involved organs. Granulomas predominantly invade the lungs and the lymphatic system, but also skin, liver, spleen, eyes and other organs may be involved." []
synonym: "Besnier-Boeck-Schaumann disease" [UniProt]
synonym: "Boeck sarcoid" [UniProt]
synonym: "Sarcoidosis" [UniProt]
xref: MedGen:C2676468
xref: MeSH:D012507
xref: MIM:612387 "phenotype"
[Term]
id: DI-02733
name: Tremor, hereditary essential 1
def: "A common movement disorder mainly characterized by postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial muscles may also be involved. The condition can be aggravated by emotions, hunger, fatigue and temperature extremes, and may cause a functional disability or even incapacitation. Inheritance is autosomal dominant." []
xref: MedGen:C1860861
xref: MeSH:D020329
xref: MIM:190300 "phenotype"
[Term]
id: DI-02734
name: von Willebrand disease 3
def: "A severe hemorrhagic disorder due to a total or near total absence of von Willebrand factor in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII. Bleeding usually starts in infancy and can include epistaxis, recurrent mucocutaneous bleeding, excessive bleeding after minor trauma, and hemarthroses." []
synonym: "von Willebrand disease recessive form" [UniProt]
synonym: "von Willebrand disease type III" [UniProt]
synonym: "von Willebrand factor deficiency type 3" [UniProt]
xref: MedGen:C1264041
xref: MedGen:C1848525
xref: MeSH:D056729
xref: MIM:277480 "phenotype"
[Term]
id: DI-02735
name: Vitiligo
def: "A pigmentary disorder of the skin and mucous membranes. It is characterized by circumscribed depigmented macules and patches, commonly on extensor aspects of extremities, on the face or neck and in skin folds. Vitiligo is a progressive disorder in which some or all of the melanocytes in the affected skin are selectively destroyed. It is a multifactorial disorder with a complex etiology probably including autoimmune mechanisms, and is associated with an elevated risk of other autoimmune diseases." []
synonym: "Generalized vitiligo" [UniProt]
xref: MedGen:C0042900
xref: MedGen:C3277701
xref: MeSH:D014820
xref: MIM:193200 "phenotype"
[Term]
id: DI-02736
name: Vitiligo-associated multiple autoimmune disease 1
def: "A disorder characterized by the association of vitiligo with several autoimmune and autoinflammatory diseases including autoimmune thyroid disease, rheumatoid arthritis and systemic lupus erythematosus." []
synonym: "SLEV1" [UniProt]
synonym: "Systemic lupus erythematosus vitiligo-related" [UniProt]
xref: MedGen:C1847835
xref: MeSH:D001327
xref: MIM:606579 "phenotype"
[Term]
id: DI-02737
name: Autoimmune disease 1
def: "An autoimmune disorder characterized by the association of vitiligo with autoimmune thyroiditis (Hashimoto thyroiditis)." []
synonym: "Autoimmune disease susceptibility 1" [UniProt]
synonym: "Autoimmune disease susceptibility locus chromosome 1p-related" [UniProt]
synonym: "VAMAS2" [UniProt]
synonym: "Vitiligo-associated multiple autoimmune disease susceptibility 2" [UniProt]
synonym: "Vitiligo-associated multiple autoimmune disease type 2" [UniProt]
xref: MedGen:C1842979
xref: MeSH:D001327
xref: MIM:607836 "phenotype"
[Term]
id: DI-02739
name: Asthma, with nasal polyps and aspirin intolerance
def: "A condition consisting of asthma, aspirin sensitivity and nasal polyposis. Nasal polyposis is due to chronic inflammation of the paranasal sinus mucosa, leading to protrusion of edematous polyps into the nasal cavities." []
synonym: "AIA" [UniProt]
synonym: "ASA triad" [UniProt]
synonym: "Aspirin-intolerant asthma" [UniProt]
synonym: "Asthma and nasal polyps" [UniProt]
synonym: "Asthma aspirin-induced" [UniProt]
synonym: "Nasal polyps asthma and aspirin sensitivity" [UniProt]
synonym: "Samter triad" [UniProt]
xref: MedGen:C1858067
xref: MedGen:C1859648
xref: MedGen:C1876174
xref: MeSH:D055963
xref: MIM:208550 "phenotype"
[Term]
id: DI-02740
name: Adrenocortical carcinoma
def: "A malignant neoplasm of the adrenal cortex and a rare childhood tumor. It occurs with increased frequency in patients with Beckwith-Wiedemann syndrome and Li-Fraumeni syndrome." []
synonym: "Hereditary adrenocortical carcinoma" [UniProt]
synonym: "Pediatric adrenocortical carcinoma" [UniProt]
xref: MedGen:C1859972
xref: MedGen:C1859973
xref: MeSH:D018268
xref: MIM:202300 "phenotype"
[Term]
id: DI-02741
name: Chondrosarcoma
def: "A malignant neoplasm derived from cartilage cells. Chondrosarcomas range from slow-growing non-metastasizing lesions to highly aggressive metastasizing sarcomas." []
xref: MedGen:C0008479
xref: MeSH:D002813
xref: MIM:215300 "phenotype"
[Term]
id: DI-02742
name: Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1
def: "An autosomal recessive, congenital, non-progressive cerebellar ataxia associated with disturbed equilibrium, delayed ambulation, intellectual disability, cerebellar hypoplasia and mild cerebral gyral simplification. Additional features include short stature, strabismus, pes planus and, rarely, seizures." []
synonym: "Cerebellar hypoplasia VLDLR-associated" [UniProt]
synonym: "DES" [UniProt]
synonym: "Dysequilibrium syndrome" [UniProt]
xref: MedGen:C0394006
xref: MeSH:D002524
xref: MeSH:D008607
xref: MIM:224050 "phenotype"
[Term]
id: DI-02743
name: Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3
def: "An autosomal recessive, congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and intellectual disability." []
xref: MedGen:C2750509
xref: MeSH:D002524
xref: MeSH:D008607
xref: MIM:613227 "phenotype"
[Term]
id: DI-02744
name: Metachromatic leukodystrophy due to saposin B deficiency
def: "A form of metachromatic leukodystrophy biochemically characterized by tissue accumulation of cerebroside-3-sulfate, saposin B deficiency, and normal arylsulfatase A activity. Clinical manifestations include periventricular white matter abnormalities, demyelination, and peripheral neuropathy. Additional neurological features include dysarthria, ataxic gait, psychomotor regression, seizures, cognitive decline and spastic quadriparesis." []
synonym: "Activator deficiency" [UniProt]
synonym: "Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency" [UniProt]
synonym: "Saposin B deficiency" [UniProt]
xref: MedGen:C0268262
xref: MeSH:D007966
xref: MIM:249900 "phenotype"
[Term]
id: DI-02745
name: Methionine adenosyltransferase deficiency
def: "An inborn error of metabolism resulting in isolated hypermethioninemia. Most patients have no clinical abnormalities, although some neurologic symptoms may be present in rare cases with severe loss of methionine adenosyltransferase activity." []
synonym: "Isolated persistent hypermethioninemia" [UniProt]
synonym: "MAT deficiency" [UniProt]
synonym: "MAT I/III deficiency" [UniProt]
xref: MedGen:C0268621
xref: MedGen:CN068479
xref: MedGen:CN068480
xref: MeSH:D000592
xref: MIM:250850 "phenotype"
[Term]
id: DI-02746
name: Myelofibrosis
def: "A disorder characterized by replacement of the bone marrow by fibrous tissue, occurring in association with a myeloproliferative disorder. Clinical manifestations may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension." []
synonym: "Idiopathic myelofibrosis" [UniProt]
synonym: "Myelosclerosis" [UniProt]
xref: MedGen:C0001815
xref: MeSH:D055728
xref: MIM:254450 "phenotype"
[Term]
id: DI-02747
name: Insulin-like growth factor 1 resistance
def: "A disorder characterized by intrauterine growth retardation, poor postnatal growth and increased plasma IGF1 levels." []
synonym: "End-organ insensitivity to somatomedin" [UniProt]
synonym: "IGF1 resistance" [UniProt]
synonym: "Resistance to insulin-like growth factor I" [UniProt]
synonym: "Resistance to somatomedin-C" [UniProt]
xref: MedGen:C1849157
xref: MedGen:C1849158
xref: MeSH:D006130
xref: MIM:270450 "phenotype"
[Term]
id: DI-02748
name: Spermatogenic failure 4
def: "An infertility disorder characterized by azoospermia, a condition of having no sperm present in the ejaculate. Testicular histology shows arrest of spermatogenesis at the pachytene stage of primary spermatocytes." []
synonym: "Azoospermia due to perturbations of meiosis" [UniProt]
synonym: "Azoospermia with maturation arrest" [UniProt]
synonym: "Spermatogenesis arrest" [UniProt]
xref: MedGen:C0232981
xref: MedGen:C3279437
xref: MeSH:D053713
xref: MIM:270960 "phenotype"
[Term]
id: DI-02749
name: Testicular germ cell tumor
def: "A common malignancy in males representing 95% of all testicular neoplasms. TGCTs have various pathologic subtypes including: unclassified intratubular germ cell neoplasia, seminoma (including cases with syncytiotrophoblastic cells), spermatocytic seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma." []
synonym: "Embryonal cell carcinoma" [UniProt]
synonym: "Endodermal sinus tumor" [UniProt]
synonym: "Male germ cell tumor" [UniProt]
synonym: "MGCT" [UniProt]
synonym: "Nonseminomatous germ cell tumors" [UniProt]
synonym: "Seminoma" [UniProt]
synonym: "Spermatocytic seminoma" [UniProt]
synonym: "Teratoma testicular" [UniProt]
xref: MedGen:C0014145
xref: MedGen:C0036631
xref: MedGen:C0238451
xref: MedGen:C0334517
xref: MedGen:C1266158
xref: MedGen:C1336708
xref: MedGen:C1848887
xref: MedGen:C3463918
xref: MeSH:D013736
xref: MeSH:D018239
xref: MIM:273300 "phenotype"
[Term]
id: DI-02750
name: Simpson-Golabi-Behmel syndrome 2
def: "A severe variant of Simpson-Golabi-Behmel syndrome, a condition characterized by pre- and postnatal overgrowth (gigantism), facial dysmorphism and a variety of inconstant visceral and skeletal malformations." []
xref: MedGen:C1846175
xref: MeSH:D001848
xref: MIM:300209 "phenotype"
[Term]
id: DI-02751
name: 46,XY sex reversal 2
def: "A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype." []
synonym: "46,XY sex reversal DAX1-related" [UniProt]
synonym: "Dosage-sensitive sex reversal" [UniProt]
synonym: "DSS" [UniProt]
xref: MedGen:C1848296
xref: MeSH:D058490
xref: MIM:300018 "phenotype"
[Term]
id: DI-02752
name: Intellectual developmental disorder, X-linked, syndromic, Lubs type
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSL patients manifest intellectual disability associated with variable features. They include swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections, hypotonia, mild myopathy and characteristic facies such as downslanting palpebral fissures, hypertelorism and a short nose with a low nasal bridge." []
synonym: "MECP2 duplication syndrome" [UniProt]
xref: MedGen:C1300260
xref: MedGen:C1846058
xref: MeSH:D038901
xref: MIM:300260 "phenotype"
[Term]
id: DI-02753
name: Phosphoglycerate kinase 1 deficiency
def: "A condition with a highly variable clinical phenotype that includes hemolytic anemia, rhabdomyolysis, myopathy and neurologic involvement. Patients can express one or more of these manifestations." []
synonym: "PGK1 deficiency" [UniProt]
xref: MedGen:C1970848
xref: MeSH:D000743
xref: MeSH:D009212
xref: MeSH:D020739
xref: MIM:300653 "phenotype"
[Term]
id: DI-02754
name: Microvascular complications of diabetes 1
def: "Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis." []
synonym: "Diabetic end-stage renal disease" [UniProt]
synonym: "Diabetic nephropathy" [UniProt]
synonym: "Diabetic neuropathy" [UniProt]
synonym: "Non-proliferative diabetic retinopathy" [UniProt]
synonym: "Proliferative diabetic retinopathy" [UniProt]
xref: MedGen:C2676832
xref: MedGen:C2676833
xref: MedGen:C2676834
xref: MedGen:C2676835
xref: MedGen:C2676836
xref: MedGen:C2676837
xref: MedGen:C2676838
xref: MedGen:C2676839
xref: MeSH:D048909
xref: MIM:603933 "phenotype"
[Term]
id: DI-02755
name: Microvascular complications of diabetes 2
def: "Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis." []
synonym: "Diabetic end-stage renal disease" [UniProt]
synonym: "Diabetic nephropathy" [UniProt]
synonym: "Proliferative diabetic retinopathy" [UniProt]
xref: MedGen:C2675471
xref: MedGen:CN031982
xref: MeSH:D048909
xref: MIM:612623 "phenotype"
[Term]
id: DI-02756
name: Microvascular complications of diabetes 3
def: "Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis." []
synonym: "Diabetic end-stage renal disease" [UniProt]
synonym: "Diabetic nephropathy" [UniProt]
xref: MedGen:C2675470
xref: MedGen:CN031587
xref: MeSH:D048909
xref: MIM:612624 "phenotype"
[Term]
id: DI-02757
name: Microvascular complications of diabetes 4
def: "Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis." []
synonym: "Diabetic nephropathy" [UniProt]
xref: MedGen:C2675112
xref: MedGen:CN034316
xref: MeSH:D048909
xref: MIM:612628 "phenotype"
[Term]
id: DI-02758
name: Microvascular complications of diabetes 5
def: "Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis." []
synonym: "Diabetic nephropathy" [UniProt]
xref: MedGen:C2674665
xref: MeSH:D048909
xref: MIM:612633 "phenotype"
[Term]
id: DI-02759
name: Microvascular complications of diabetes 6
def: "Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis." []
synonym: "Diabetic nephropathy" [UniProt]
xref: MedGen:C2675128
xref: MedGen:CN031984
xref: MeSH:D048909
xref: MIM:612634 "phenotype"
[Term]
id: DI-02760
name: Microvascular complications of diabetes 7
def: "Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis." []
synonym: "Diabetic nephropathy" [UniProt]
synonym: "Diabetic non-proliferative retinopathy" [UniProt]
synonym: "Diabetic proliferative retinopathy" [UniProt]
xref: MedGen:C2673520
xref: MedGen:CN034317
xref: MeSH:D048909
xref: MIM:612635 "phenotype"
[Term]
id: DI-02761
name: Alzheimer disease mitochondrial
def: "Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death." []
xref: MedGen:C1838990
xref: MeSH:D000544
xref: MIM:502500 "phenotype"
[Term]
id: DI-02762
name: Urofacial syndrome 1
def: "A rare autosomal recessive disorder characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. Affected individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure." []
synonym: "Hydronephrosis with peculiar facial expression" [UniProt]
synonym: "Inverted smile and occult neuropathic bladder" [UniProt]
synonym: "Ochoa syndrome" [UniProt]
synonym: "Partial facial palsy partial with urinary abnormalities" [UniProt]
synonym: "UFS" [UniProt]
synonym: "Urofacial syndrome" [UniProt]
xref: MedGen:C0403555
xref: MeSH:D014570
xref: MeSH:D019066
xref: MIM:236730 "phenotype"
[Term]
id: DI-02763
name: Fanconi anemia complementation group D2
def: "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair." []
synonym: "FA4" [UniProt]
synonym: "FACD" [UniProt]
synonym: "FAD2" [UniProt]
synonym: "FANCD" [UniProt]
synonym: "Fanconi anemia complementation group D" [UniProt]
synonym: "Fanconi pancytopenia type 4" [UniProt]
xref: MedGen:C3160738
xref: MeSH:D005199
xref: MIM:227646 "phenotype"
[Term]
id: DI-02764
name: Warsaw breakage syndrome
def: "A syndrome characterized by severe microcephaly, pre- and postnatal growth retardation, facial dysmorphism and abnormal skin pigmentation. Additional features include high arched palate, coloboma of the right optic disk, deafness, ventricular septal defect, toes and fingers abnormalities. At cellular level, drug-induced chromosomal breakage, a feature of Fanconi anemia, and sister chromatid cohesion defects, a feature of Roberts syndrome, coexist." []
xref: MedGen:C3150658
xref: MeSH:D000015
xref: MIM:613398 "phenotype"
[Term]
id: DI-02765
name: Corneal dystrophy, Fuchs endothelial, 4
def: "A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition." []
synonym: "Corneal dystrophy Fuchs endothelial late-onset" [UniProt]
synonym: "Fuchs dystrophy late-onset" [UniProt]
xref: MedGen:C2750450
xref: MeSH:D005642
xref: MIM:613268 "phenotype"
[Term]
id: DI-02766
name: Corneal dystrophy, Fuchs endothelial, 6
def: "A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition." []
synonym: "Corneal dystrophy Fuchs endothelial late-onset" [UniProt]
synonym: "Fuchs dystrophy late-onset" [UniProt]
xref: MedGen:C2750448
xref: MeSH:D005642
xref: MIM:613270 "phenotype"
[Term]
id: DI-02767
name: Lipodystrophy, congenital generalized, 4
def: "A form of congenital generalized lipodystrophy, a metabolic disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and diabetes mellitus. CGL4 is characterized by the association of congenital generalized lipodystrophy with muscular dystrophy and cardiac anomalies. Inheritance is autosomal recessive." []
synonym: "Berardinelli-Seip congenital lipodystrophy type 4" [UniProt]
synonym: "Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy" [UniProt]
xref: MedGen:C2750069
xref: MeSH:D052497
xref: MIM:613327 "phenotype"
[Term]
id: DI-02768
name: Periodic paralysis hypokalemic 2
def: "An autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels." []
xref: MedGen:C2750061
xref: MeSH:D020514
xref: MIM:613345 "phenotype"
[Term]
id: DI-02769
name: Neuronopathy, distal hereditary motor, autosomal dominant 4
def: "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs." []
synonym: "dHMN IIC" [UniProt]
synonym: "dHMN2C" [UniProt]
synonym: "Distal hereditary motor neuropathy type IIC" [UniProt]
synonym: "HMN IIC" [UniProt]
synonym: "HMN2C" [UniProt]
synonym: "Neuronopathy, distal hereditary motor, 2C" [UniProt]
synonym: "Neuropathy, distal hereditary motor, autosomal dominant 4" [UniProt]
xref: MedGen:C3150619
xref: MeSH:D009134
xref: MIM:613376 "phenotype"
[Term]
id: DI-02770
name: Night blindness, congenital stationary, Oguchi type 2
def: "A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. Congenital stationary night blindness Oguchi type is associated with fundus discoloration and abnormally slow dark adaptation." []
synonym: "Oguchi disease 2" [UniProt]
synonym: "Oguchi disease-2" [UniProt]
xref: MedGen:C3150678
xref: MeSH:D009755
xref: MIM:613411 "phenotype"
[Term]
id: DI-02771
name: Long QT syndrome 13
def: "A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy." []
xref: MedGen:C3150733
xref: MeSH:D008133
xref: MIM:613485 "phenotype"
[Term]
id: DI-02772
name: Congenital disorder of glycosylation 2J
def: "A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions." []
synonym: "CDG IIj" [UniProt]
synonym: "CDG-IIj" [UniProt]
synonym: "CDGIIj" [UniProt]
synonym: "Congenital disorder of glycosylation type IIj" [UniProt]
xref: MedGen:C3150736
xref: MeSH:D018981
xref: MIM:613489 "phenotype"
[Term]
id: DI-02773
name: Glycogen storage disease 15
def: "A metabolic disorder resulting in muscle weakness, associated with the glycogen depletion in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. The skeletal muscle shows a marked predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation." []
synonym: "Glycogen storage disease XV" [UniProt]
synonym: "Glycogenin deficiency" [UniProt]
synonym: "GSD XV" [UniProt]
synonym: "GYG1 deficiency" [UniProt]
xref: MedGen:C3150754
xref: MeSH:D006008
xref: MIM:613507 "phenotype"
[Term]
id: DI-02774
name: Breast-ovarian cancer, familial, 3
def: "A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate." []
synonym: "Breast cancer familial 3" [UniProt]
synonym: "Ovarian cancer familial 3" [UniProt]
xref: MedGen:C3150659
xref: MedGen:C3150660
xref: MedGen:C3150661
xref: MeSH:D001943
xref: MeSH:D010051
xref: MIM:613399 "phenotype"
[Term]
id: DI-02775
name: Recurrent myoglobinuria mitochondrial
def: "Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis (necrosis or disintegration of skeletal muscle) associated with muscle pain and weakness, and followed by excretion of myoglobin in the urine." []
xref: MedGen:C1838877
xref: MeSH:D009212
xref: MIM:550500 "phenotype"
[Term]
id: DI-02776
name: Type 1 diabetes mellitus 10
def: "A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels." []
synonym: "Diabetes mellitus, insulin-dependent, 10" [UniProt]
synonym: "IDDM10" [UniProt]
xref: MedGen:C1866040
xref: MeSH:D003922
xref: MIM:601942 "phenotype"
[Term]
id: DI-02777
name: Type 1 diabetes mellitus 12
def: "A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels." []
synonym: "Diabetes mellitus, insulin-dependent, 12" [UniProt]
synonym: "IDDM12" [UniProt]
synonym: "Insulin-dependent diabetes mellitus 12" [UniProt]
xref: MedGen:C1832392
xref: MeSH:D003922
xref: MIM:601388 "phenotype"
[Term]
id: DI-02778
name: Type 1 diabetes mellitus 19
def: "A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels." []
synonym: "Diabetes mellitus, insulin-dependent, 19" [UniProt]
synonym: "IDDM19" [UniProt]
xref: MedGen:C1857808
xref: MeSH:D003922
xref: MIM:610155 "phenotype"
[Term]
id: DI-02779
name: Type 1 diabetes mellitus 20
def: "A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels." []
synonym: "Diabetes mellitus, insulin-dependent, 20" [UniProt]
synonym: "IDDM20" [UniProt]
xref: MedGen:C2675866
xref: MeSH:D003922
xref: MIM:612520 "phenotype"
[Term]
id: DI-02780
name: Type 1 diabetes mellitus 22
def: "A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels." []
synonym: "Diabetes mellitus, insulin-dependent, 22" [UniProt]
synonym: "IDDM22" [UniProt]
xref: MedGen:C2675864
xref: MeSH:D003922
xref: MIM:612522 "phenotype"
[Term]
id: DI-02781
name: Type 2 diabetes mellitus 1
def: "A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels." []
synonym: "Diabetes mellitus, non-insulin-dependent, 1" [UniProt]
synonym: "NIDDM1" [UniProt]
xref: MedGen:C1832544
xref: MeSH:D003924
xref: MIM:601283 "phenotype"
[Term]
id: DI-02782
name: Parkinsonism-dystonia 1, infantile-onset
def: "An autosomal recessive neurodegenerative disorder characterized by infantile onset of parkinsonism and dystonia. Other neurologic features include global developmental delay, bradykinesia and pyramidal tract signs." []
synonym: "Dopamine transporter deficiency syndrome" [UniProt]
synonym: "DTDS" [UniProt]
synonym: "Dystonia-parkinsonism infantile" [UniProt]
synonym: "Parkinsonism-dystonia infantile" [UniProt]
synonym: "PKDYS" [UniProt]
xref: MedGen:C2751067
xref: MeSH:D004421
xref: MeSH:D020734
xref: MIM:613135 "phenotype"
[Term]
id: DI-02783
name: Tubulointerstitial kidney disease, autosomal dominant, 4
def: "A form of autosomal dominant tubulointerstitial kidney disease, a genetically heterogeneous disorder characterized by slowly progressive loss of kidney function, bland urinary sediment, hyperuricemia, absent or mildly increased albuminuria, lack of severe hypertension during the early stages, and normal or small kidneys on ultrasound. Renal histology shows variable abnormalities including interstitial fibrosis with tubular atrophy, microcystic dilatation of the tubules, thickening of tubular basement membranes, medullary cysts, and secondary glomerulosclerotic or glomerulocystic changes with abnormal glomerular tufting. There is significant variability, as well as incomplete penetrance." []
synonym: "Early-onset hyperuricemia anemia and progressive kidney failure" [UniProt]
synonym: "Familial juvenile hyperuricemic nephropathy 2" [UniProt]
synonym: "HNFJ2" [UniProt]
xref: MedGen:C2751310
xref: MeSH:D007674
xref: MIM:613092 "phenotype"
[Term]
id: DI-02784
name: Diabetes mellitus, ketosis-prone
def: "An atypical form of diabetes mellitus characterized by an acute initial presentation with severe hyperglycemia and ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell autoimmunity is a rare finding." []
xref: MedGen:C0743110
xref: MeSH:D003920
xref: MIM:612227 "phenotype"
[Term]
id: DI-02785
name: Hypophosphatemic rickets, autosomal recessive, 2
def: "A hereditary form of hypophosphatemic rickets, a disorder of proximal renal tubule function that causes phosphate loss, hypophosphatemia and skeletal deformities, including rickets and osteomalacia unresponsive to vitamin D. Symptoms are bone pain, fractures and growth abnormalities." []
synonym: "Hypophosphatemia autosomal recessive" [UniProt]
xref: MedGen:C2750078
xref: MeSH:D012279
xref: MIM:613312 "phenotype"
[Term]
id: DI-02786
name: Maturity-onset diabetes of the young 10
def: "A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease." []
synonym: "MODY type 10" [UniProt]
synonym: "MODY-10" [UniProt]
xref: MedGen:C3150617
xref: MeSH:D003924
xref: MIM:613370 "phenotype"
[Term]
id: DI-02787
name: Maturity-onset diabetes of the young 11
def: "A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease." []
synonym: "MODY type 11" [UniProt]
synonym: "MODY-11" [UniProt]
xref: MedGen:C3150618
xref: MeSH:D003924
xref: MIM:613375 "phenotype"
[Term]
id: DI-02788
name: Type 1 diabetes mellitus 2
def: "A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels." []
synonym: "Diabetes mellitus, insulin-dependent, 2" [UniProt]
synonym: "IDDM2" [UniProt]
xref: MedGen:C1852092
xref: MeSH:D003922
xref: MIM:125852 "phenotype"
[Term]
id: DI-02789
name: Intellectual developmental disorder, X-linked 1
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations." []
synonym: "MRX1" [UniProt]
synonym: "MRX18" [UniProt]
synonym: "MRX78" [UniProt]
xref: MedGen:C2931498
xref: MeSH:D038901
xref: MIM:309530 "phenotype"
[Term]
id: DI-02790
name: Rett syndrome congenital variant
def: "A severe neurodevelopmental disorder with features of classic Rett syndrome but earlier onset in the first months of life. Clinical features include progressive microcephaly, hypotonia, irresponsiveness and irritability in the neonatal period, intellectual disability, psychomotor regression and stereotypical movements." []
xref: MedGen:C3150705
xref: MeSH:D015518
xref: MIM:613454 "phenotype"
[Term]
id: DI-02791
name: Developmental and epileptic encephalopathy 5
def: "A disorder characterized by seizures associated with hypsarrhythmia, profound intellectual disability with lack of visual attention and speech development, as well as spastic quadriplegia." []
synonym: "EIEE5" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 5" [UniProt]
xref: MedGen:C3150731
xref: MeSH:D013036
xref: MIM:613477 "phenotype"
[Term]
id: DI-02792
name: Autism 15
def: "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability." []
xref: MedGen:C2677504
xref: MeSH:D001321
xref: MIM:612100 "phenotype"
[Term]
id: DI-02793
name: Autism 16
def: "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. AUTS16 can be associated with epilepsy." []
synonym: "Autism with or without seizures" [UniProt]
xref: MedGen:C3150677
xref: MeSH:D001321
xref: MIM:613410 "phenotype"
[Term]
id: DI-02794
name: Autism 17
def: "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability." []
xref: MedGen:C3150693
xref: MeSH:D001321
xref: MIM:613436 "phenotype"
[Term]
id: DI-02795
name: Lymphatic malformation 3
def: "A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM3 is an autosomal dominant form with variable severity and reduced penetrance. Affected individuals manifest lymphedema of the lower limbs and some patients have lymphedema of the hands." []
synonym: "LMPH1C" [UniProt]
synonym: "Lymphedema hereditary type IC" [UniProt]
synonym: "Lymphedema, hereditary, 1C" [UniProt]
xref: MedGen:C3150732
xref: MeSH:D008209
xref: MIM:613480 "phenotype"
[Term]
id: DI-02796
name: Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease
def: "A rare, autosomal recessive disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. Some patients may present in early infancy with severe diarrhea, prior to the onset of typical FHL features, whereas others present later in childhood and have a more protracted course without diarrhea. The early-onset diarrhea is due to enteropathy reminiscent of microvillus inclusion disease." []
synonym: "HLH5" [UniProt]
synonym: "HPLH5" [UniProt]
xref: MedGen:C2751293
xref: MeSH:D051359
xref: MIM:613101 "phenotype"
[Term]
id: DI-02797
name: Perry syndrome
def: "A neuropsychiatric disorder characterized by mental depression not responsive to antidepressant drugs or electroconvulsive therapy, sleep disturbances, exhaustion and marked weight loss. Parkinsonism develops later and respiratory failure occurred terminally." []
synonym: "Parkinsonism with alveolar hypoventilation and mental depression" [UniProt]
xref: MedGen:C1868594
xref: MeSH:D003863
xref: MeSH:D007040
xref: MeSH:D020734
xref: MIM:168605 "phenotype"
[Term]
id: DI-02798
name: Hallermann-Streiff syndrome
def: "A disorder characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies and proportionate short stature. Intellectual disability is present in a minority of cases." []
synonym: "Francois dyscephalic syndrome" [UniProt]
xref: MedGen:C0018522
xref: MeSH:D006210
xref: MIM:234100 "phenotype"
[Term]
id: DI-02799
name: Neuronopathy, distal hereditary motor, X-linked
def: "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs." []
synonym: "Distal spinal muscular atrophy, X-linked, 3" [UniProt]
synonym: "DSMAX" [UniProt]
synonym: "Neuropathy, distal hereditary motor, X-linked" [UniProt]
synonym: "SMAX3" [UniProt]
synonym: "Spinal muscular atrophy distal X-linked recessive" [UniProt]
xref: MedGen:C1845359
xref: MeSH:D009134
xref: MIM:300489 "phenotype"
[Term]
id: DI-02800
name: Immunodeficiency, common variable, 3
def: "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low." []
synonym: "Antibody deficiency due to CD19 defect" [UniProt]
xref: MedGen:C3150738
xref: MeSH:D017074
xref: MIM:613493 "phenotype"
[Term]
id: DI-02801
name: Immunodeficiency, common variable, 4
def: "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low." []
synonym: "Antibody deficiency due to BAFFR defect" [UniProt]
xref: MedGen:C3150739
xref: MeSH:D017074
xref: MIM:613494 "phenotype"
[Term]
id: DI-02802
name: Immunodeficiency, common variable, 5
def: "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low." []
synonym: "Antibody deficiency due to CD20 defect" [UniProt]
xref: MedGen:C3150740
xref: MeSH:D017074
xref: MIM:613495 "phenotype"
[Term]
id: DI-02803
name: Immunodeficiency, common variable, 6
def: "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low." []
synonym: "Antibody deficiency due to CD81 defect" [UniProt]
xref: MedGen:C3150741
xref: MeSH:D017074
xref: MIM:613496 "phenotype"
[Term]
id: DI-02804
name: Hennekam lymphangiectasia-lymphedema syndrome 1
def: "A form of Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymph-vessels dysplasia characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face. In addition, affected individuals have unusual facies and some manifest intellectual disability. HKLLS1 inheritance is autosomal recessive." []
synonym: "Generalized lymphatic dysplasia" [UniProt]
synonym: "Hennekam syndrome" [UniProt]
xref: MedGen:C0340834
xref: MeSH:D008201
xref: MeSH:D008209
xref: MIM:235510 "phenotype"
[Term]
id: DI-02805
name: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
def: "A keratinizing disorder characterized by ichthyosis, palmoplantar keratoderma with constricting bands around fingers, flexural deformities of fingers and keratotic papules in a linear distribution on the flexural side of large joints. Histological examination of the skin of affected individuals shows hypertrophy and hyperplasia of the spinous, granular and horny epidermal layer." []
synonym: "KLICK genodermatosis" [UniProt]
synonym: "KLICK syndrome" [UniProt]
xref: MedGen:C1866029
xref: MeSH:D007642
xref: MIM:601952 "phenotype"
[Term]
id: DI-02806
name: Nijmegen breakage syndrome-like disorder
def: "A disorder similar to Nijmegen breakage syndrome and characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, short stature and bird-like face. Immunodeficiency is absent." []
synonym: "Microcephaly and spontaneous chromosome instability without immunodeficiency" [UniProt]
synonym: "NBS-like disorder" [UniProt]
synonym: "RAD50 deficiency" [UniProt]
xref: MedGen:C2751318
xref: MeSH:D049914
xref: MIM:613078 "phenotype"
[Term]
id: DI-02807
name: 46,XY sex reversal 5
def: "A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females." []
synonym: "46,XY gonadal dysgenesis complete CBX2-related" [UniProt]
synonym: "46,XY sex reversal CBX2-related" [UniProt]
synonym: "Disorder of sex development 46,XY CBX2-related" [UniProt]
synonym: "Sex reversal XY CBX2-related" [UniProt]
xref: MedGen:C2751317
xref: MeSH:D006061
xref: MIM:613080 "phenotype"
[Term]
id: DI-02808
name: Candidiasis, familial, 4
def: "A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans." []
synonym: "Candidiasis familial chronic mucocutaneous" [UniProt]
synonym: "Chronic mucocutaneous candidiasis 4" [UniProt]
xref: MedGen:C0341024
xref: MeSH:D002178
xref: MIM:613108 "phenotype"
[Term]
id: DI-02809
name: Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections
def: "A rare disorder characterized by immunodeficiency, recurrent infections, eczema, increased serum IgE, eosinophilia and lack of connective tissue and skeletal involvement." []
synonym: "HIES autosomal recessive" [UniProt]
synonym: "Hyper-IgE recurrent infection syndrome 2, autosomal recessive" [UniProt]
synonym: "Hyper-IgE recurrent infection syndrome autosomal recessive" [UniProt]
synonym: "Hyper-IgE syndrome autosomal recessive" [UniProt]
synonym: "Hyperimmunoglobulin E syndrome type 2" [UniProt]
synonym: "Nonskeletal hyper IgE syndrome" [UniProt]
xref: MedGen:C1968689
xref: MeSH:D007589
xref: MIM:243700 "phenotype"
[Term]
id: DI-02810
name: Ehlers-Danlos syndrome, musculocontractural type 1
def: "A form of Ehlers-Danlos syndrome characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement." []
synonym: "Adducted thumb-clubfoot syndrome" [UniProt]
synonym: "Adducted thumbs-arthrogryposis Dundar type" [UniProt]
synonym: "Arthrogryposis distal with peculiar facies and hydronephrosis" [UniProt]
synonym: "ATCS" [UniProt]
synonym: "Dundar syndrome" [UniProt]
synonym: "EDS6B formerly" [UniProt]
synonym: "EDSMC" [UniProt]
synonym: "Ehlers-Danlos syndrome type VIB formerly" [UniProt]
xref: MedGen:C1866294
xref: MeSH:D004535
xref: MIM:601776 "phenotype"
[Term]
id: DI-02811
name: Carpal tunnel syndrome 1
def: "A condition characterized by entrapment of the median nerve within the carpal tunnel. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. This condition may be associated with repetitive occupational trauma, wrist injuries, amyloid neuropathies, rheumatoid arthritis." []
synonym: "CTS" [UniProt]
synonym: "Median neuropathy carpal tunnel" [UniProt]
synonym: "Thenar amyotrophy of carpal origin" [UniProt]
xref: MedGen:C0007286
xref: MeSH:D002349
xref: MIM:115430 "phenotype"
[Term]
id: DI-02812
name: Frank-Ter Haar syndrome
def: "A syndrome characterized by brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones and flexion deformity of the fingers." []
synonym: "Autosomal recessive Melnick-Needles syndrome" [UniProt]
synonym: "Borrone dermatocardioskeletal syndrome" [UniProt]
synonym: "Ter Haar syndrome" [UniProt]
xref: MedGen:C1855305
xref: MeSH:D010009
xref: MeSH:D019465
xref: MIM:249420 "phenotype"
[Term]
id: DI-02813
name: Striatal degeneration, autosomal dominant 1
def: "A movement disorder affecting the striatal part of the basal ganglia and characterized by bradykinesia, dysarthria and muscle rigidity. These symptoms resemble idiopathic Parkinson disease, but tremor is not present." []
xref: MedGen:C1836694
xref: MeSH:D001480
xref: MIM:609161 "phenotype"
[Term]
id: DI-02814
name: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
def: "An autosomal dominant disease characterized by short stature, advanced bone maturation, early-onset osteoarthritis, and mild dysmorphic features consisting of midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. Other features include intervertebral disk disease and osteochondritis dissecans. Osteochondritis dissecans is defined as a separation of cartilage and subchondral bone from the surrounding tissue." []
synonym: "Osteochondritis dissecans, short stature, and early-onset osteoarthritis" [UniProt]
xref: MedGen:C0029421
xref: MedGen:C3665488
xref: MeSH:D010008
xref: MIM:165800 "phenotype"
[Term]
id: DI-02815
name: Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
def: "A rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. Lens dislocation or subluxation may occur, leading to defective accommodation." []
xref: MedGen:C1562061
xref: MedGen:C3538951
xref: MeSH:D007905
xref: MIM:251750 "phenotype"
[Term]
id: DI-02816
name: Hyperlipidemia, familial combined, 1
def: "A disorder characterized by a variable pattern of elevated levels of serum total cholesterol, triglycerides or both. It is observed in a percentage of individuals with premature coronary heart disease." []
synonym: "Familial combined hyperlipidemia type 1" [UniProt]
synonym: "Hyperlipidemia combined, 1" [UniProt]
synonym: "HYPLIP1" [UniProt]
xref: MedGen:C1865289
xref: MeSH:D006950
xref: MIM:602491 "phenotype"
[Term]
id: DI-02817
name: Pseudohypoparathyroidism 1B
def: "A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. Patients affected with PHP1B lack developmental defects characteristic of Albright hereditary osteodystrophy, and typically show no other endocrine abnormalities besides resistance to PTH." []
xref: MedGen:C1864100
xref: MeSH:D011547
xref: MIM:603233 "phenotype"
[Term]
id: DI-02818
name: Pseudohypoparathyroidism 1C
def: "A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. It is commonly associated with Albright hereditary osteodystrophy whose features are short stature, obesity, round facies, short metacarpals and ectopic calcification." []
xref: MedGen:C2675910
xref: MedGen:C2932716
xref: MeSH:D011547
xref: MIM:612462 "phenotype"
[Term]
id: DI-02819
name: Rheumatoid arthritis systemic juvenile
def: "An inflammatory articular disorder with systemic onset beginning before the age of 16. It represents a subgroup of juvenile arthritis associated with severe extraarticular features and occasionally fatal complications. During active phases of the disorder, patients display a typical daily spiking fever, an evanescent macular rash, lymphadenopathy, hepatosplenomegaly, serositis, myalgia and arthritis." []
synonym: "Juvenile-onset Still disease" [UniProt]
xref: MedGen:C1858558
xref: MeSH:D001171
xref: MIM:604302 "phenotype"
[Term]
id: DI-02820
name: Ossification of the posterior longitudinal ligament of the spine
def: "A calcification of the posterior longitudinal ligament of the spinal column, usually at the level of the cervical spine. Patients with OPLL frequently present with a severe myelopathy that can lead to tetraparesis." []
xref: MedGen:C1865343
xref: MeSH:D017887
xref: MIM:602475 "phenotype"
[Term]
id: DI-02821
name: Familial gestational hyperthyroidism
def: "A condition characterized by abnormally high levels of serum thyroid hormones occurring during early pregnancy." []
xref: MedGen:C1863959
xref: MeSH:D006980
xref: MIM:603373 "phenotype"
[Term]
id: DI-02823
name: Stiff skin syndrome
def: "A syndrome characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. Other occasional findings include lipodystrophy and muscle weakness." []
xref: MedGen:C1861456
xref: MeSH:D012873
xref: MIM:184900 "phenotype"
[Term]
id: DI-02824
name: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
def: "A rare prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. Hydranencephaly is a condition where the greater portions of the cerebral hemispheres and corpus striatum are replaced by cerebrospinal fluid and glial tissue." []
synonym: "Cerebral proliferative glomeruloid vasculopathy" [UniProt]
synonym: "Encephaloclastic proliferative vasculopathy" [UniProt]
synonym: "EPV" [UniProt]
synonym: "Fowler syndrome" [UniProt]
synonym: "Hydranencephaly Fowler type" [UniProt]
synonym: "Hydrocephaly/hydranencephaly due to cerebral vasculopathy" [UniProt]
synonym: "PGV" [UniProt]
xref: MedGen:C1856972
xref: MeSH:D006832
xref: MIM:225790 "phenotype"
[Term]
id: DI-02825
name: Progressive familial heart block 1B
def: "A cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death." []
synonym: "Cardiac conduction block" [UniProt]
synonym: "PFHBIB" [UniProt]
synonym: "Progressive familial heart block type IB" [UniProt]
synonym: "Right-bundle branch block" [UniProt]
xref: MedGen:C1970298
xref: MeSH:D002037
xref: MIM:604559 "phenotype"
[Term]
id: DI-02827
name: Weill-Marchesani syndrome 4
def: "An autosomal recessive syndrome characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia and short stature. Brachydactyly and decreased joint flexibility are present in some patients." []
synonym: "Weill-Marchesani-like syndrome" [UniProt]
synonym: "WMSL" [UniProt]
xref: MedGen:C2750787
xref: MeSH:D004392
xref: MeSH:D015785
xref: MIM:613195 "phenotype"
[Term]
id: DI-02828
name: Nystagmus 6, congenital, X-linked
def: "A form of nystagmus, a condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding." []
xref: MedGen:C3151752
xref: MeSH:D020417
xref: MIM:300814 "phenotype"
[Term]
id: DI-02829
name: Factor XIII subunit B deficiency
def: "An autosomal recessive hematologic disorder characterized by a life- long bleeding tendency, impaired wound healing and spontaneous abortion in affected women." []
synonym: "F13 deficiency type 1" [UniProt]
synonym: "Type I F13 deficiency" [UniProt]
xref: MedGen:C2750481
xref: MeSH:D005177
xref: MIM:613235 "phenotype"
[Term]
id: DI-02830
name: Trichotillomania
def: "A neuropsychiatric disorder characterized by chronic, repetitive, or compulsive hair pulling resulting in noticeable hair loss. Affected individuals may develop physical complications and often have overlapping psychological disorders, such as Gilles de la Tourette syndrome or obsessive-compulsive disorder." []
xref: MedGen:C0040953
xref: MedGen:CN035643
xref: MeSH:D014256
xref: MIM:613229 "phenotype"
[Term]
id: DI-02831
name: Alport syndrome 3A, autosomal dominant
def: "A form of Alport syndrome, a syndrome characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness." []
synonym: "Nephritis-deafness syndrome" [UniProt]
synonym: "Nephropathy and deafness" [UniProt]
xref: MedGen:C1567743
xref: MeSH:D009394
xref: MIM:104200 "phenotype"
[Term]
id: DI-02832
name: Metachondromatosis
def: "A skeletal disorder with radiologic features of both multiple exostoses and Ollier disease, characterized by the presence of exostoses, commonly of the bones of the hands and feet, and enchondromas of the metaphyses of long bones and iliac crest." []
xref: MedGen:C0410530
xref: MeSH:D018210
xref: MIM:156250 "phenotype"
[Term]
id: DI-02833
name: Mirror movements 1
def: "A disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities. Some MRMV1 patients have agenesis of the corpus callosum." []
synonym: "Bimanual synergia" [UniProt]
synonym: "Congenital mirror movements" [UniProt]
synonym: "Mirror movements 1 and/or agenesis of the corpus callosum" [UniProt]
xref: MedGen:C1834870
xref: MeSH:D020820
xref: MIM:157600 "phenotype"
[Term]
id: DI-02834
name: Cenani-Lenz syndactyly syndrome
def: "A congenital malformation syndrome defined as complete and complex syndactyly of the hands combined with malformations of the forearm bones and similar manifestations in the lower limbs. It is characterized by fusion and disorganization of metacarpal and phalangeal bones, radius and ulnar shortening, radioulnar synostosis, and severe syndactyly of hands and feet." []
synonym: "Cenani syndactylism" [UniProt]
synonym: "Cenani-Lenz syndactyly" [UniProt]
synonym: "Cenani-Lenz syndrome" [UniProt]
synonym: "Syndactyly type 7" [UniProt]
synonym: "Syndactyly type VII" [UniProt]
xref: MedGen:C1859309
xref: MeSH:D013576
xref: MIM:212780 "phenotype"
[Term]
id: DI-02835
name: COACH syndrome 1
def: "A form of COACH syndrome, a disorder characterized by cerebellar vermis hypoplasia, developmental delay, impaired intellectual development, ataxia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. COACH1 inheritance is autosomal recessive." []
synonym: "Cerebellar vermis hypo/aplasia oligophrenia congenital ataxia ocular coloboma and hepatic fibrosis" [UniProt]
synonym: "COACH syndrome" [UniProt]
synonym: "Joubert syndrome with congenital hepatic fibrosis" [UniProt]
xref: MedGen:C1857662
xref: MeSH:D001259
xref: MeSH:D002526
xref: MeSH:D003103
xref: MeSH:D008107
xref: MIM:216360 "phenotype"
[Term]
id: DI-02836
name: Schinzel-Giedion midface retraction syndrome
def: "A disorder characterized by severe intellectual disability, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia." []
xref: MedGen:C0265227
xref: MedGen:C1849294
xref: MeSH:D000015
xref: MeSH:D008607
xref: MIM:269150 "phenotype"
[Term]
id: DI-02837
name: TARP syndrome
def: "A disorder characterized by the Robin sequence (micrognathia, glossoptosis and cleft palate), talipes equinovarus and cardiac defects." []
synonym: "Pierre Robin syndrome with congenital heart malformation and clubfoot" [UniProt]
synonym: "Talipes equinovarus atrial septal defect robin sequence and persistence of left superior vena cava" [UniProt]
xref: MedGen:C1839463
xref: MeSH:D003025
xref: MIM:311900 "phenotype"
[Term]
id: DI-02838
name: Cervical cancer
def: "A malignant neoplasm of the cervix, typically originating from a dysplastic or premalignant lesion previously present at the active squamocolumnar junction. The transformation from mild dysplastic to invasive carcinoma generally occurs slowly within several years, although the rate of this process varies widely. Carcinoma in situ is particularly known to precede invasive cervical cancer in most cases. Cervical cancer is strongly associated with infection by oncogenic types of human papillomavirus." []
synonym: "Cervix cancer" [UniProt]
synonym: "Uterine cervical cancer" [UniProt]
xref: MedGen:C0302592
xref: MeSH:D002583
xref: MIM:603956 "phenotype"
[Term]
id: DI-02839
name: Uric acid nephrolithiasis
def: "A form of nephrolithiasis, a common multifactorial disease characterized by stones formation in the kidney and urinary tract. Nephrolithiasis is due to supersaturation of the urine by stone- forming constituents, including calcium, oxalate and uric acid. Crystals or foreign bodies can act as nidi, upon which ions from the supersaturated urine form microscopic crystalline structures. Uric acid nephrolithiasis occurs when the urine becomes overly concentrated with uric acid and accounts for 20% of all stones." []
synonym: "Uric acid urolithiasis" [UniProt]
xref: MedGen:C2700426
xref: MeSH:D053040
xref: MIM:605990 "phenotype"
[Term]
id: DI-02840
name: Coronary heart disease 5
def: "A multifactorial disease characterized by an imbalance between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood flow. Decreased capacity of the coronary vessels is often associated with thickening and loss of elasticity of the coronary arteries." []
synonym: "Coronary artery disease early-onset" [UniProt]
xref: MedGen:C1837173
xref: MeSH:D003324
xref: MIM:608901 "phenotype"
[Term]
id: DI-02841
name: Coronary heart disease 7
def: "A multifactorial disease characterized by an imbalance between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood flow. Decreased capacity of the coronary vessels is often associated with thickening and loss of elasticity of the coronary arteries." []
xref: MedGen:C1970441
xref: MeSH:D003327
xref: MIM:610938 "phenotype"
[Term]
id: DI-02842
name: Aplastic anemia
def: "A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. It is characterized by peripheral pancytopenia and marrow hypoplasia." []
xref: MedGen:C2684859
xref: MeSH:D000741
xref: MIM:609135 "phenotype"
[Term]
id: DI-02843
name: Restless legs syndrome 6
def: "A neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation. The majority of patients also have periodic limb movements in sleep, which are characterized by involuntary, highly stereotypical, regularly occurring limb movements that occur during sleep." []
xref: MedGen:C1970020
xref: MeSH:D012148
xref: MIM:611185 "phenotype"
[Term]
id: DI-02844
name: Brachydactyly B2
def: "A form of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly." []
xref: MedGen:C1969652
xref: MeSH:D059327
xref: MIM:611377 "phenotype"
[Term]
id: DI-02845
name: Diarrhea 5, with tufting enteropathy, congenital
def: "An intractable diarrhea of infancy characterized by villous atrophy and absence of inflammation, with intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum." []
synonym: "Congenital tufting enteropathy" [UniProt]
synonym: "CTE" [UniProt]
synonym: "Intestinal epithelial cell dysplasia" [UniProt]
xref: MedGen:C2750737
xref: MeSH:D003968
xref: MIM:613217 "phenotype"
[Term]
id: DI-02846
name: Tuberous sclerosis 2
def: "An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes." []
synonym: "TS" [UniProt]
synonym: "Tuberous sclerosis" [UniProt]
synonym: "Tuberous sclerosis complex" [UniProt]
xref: MedGen:C1860707
xref: MedGen:C2750460
xref: MeSH:D014402
xref: MIM:613254 "phenotype"
[Term]
id: DI-02847
name: Pancreatic cancer 2
def: "A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue." []
xref: MedGen:C3150546
xref: MeSH:D010190
xref: MIM:613347 "phenotype"
[Term]
id: DI-02848
name: Pancreatic cancer 3
def: "A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue." []
xref: MedGen:C3150547
xref: MeSH:D010190
xref: MIM:613348 "phenotype"
[Term]
id: DI-02849
name: Pancreatic cancer 1
def: "A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue." []
xref: MedGen:C1847351
xref: MeSH:D010190
xref: MIM:606856 "phenotype"
[Term]
id: DI-02850
name: Reynolds syndrome
def: "A syndrome specifically associating limited cutaneous systemic sclerosis and primary biliary cirrhosis. It is characterized by liver disease, telangiectasia, abrupt onset of digital paleness or cyanosis in response to cold exposure or stress (Raynaud phenomenon), and variable features of scleroderma. The liver disease is characterized by pruritis, jaundice, hepatomegaly, increased serum alkaline phosphatase and positive serum mitochondrial autoantibodies, all consistent with primary biliary cirrhosis." []
synonym: "Primary biliary cirrhosis scleroderma Raynaud disease and telangiectasia" [UniProt]
xref: MedGen:C0748397
xref: MeSH:D008105
xref: MeSH:D045745
xref: MIM:613471 "phenotype"
[Term]
id: DI-02851
name: Fanconi renotubular syndrome 2
def: "A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS2 inheritance is autosomal recessive." []
xref: MedGen:C3150652
xref: MeSH:D005198
xref: MIM:613388 "phenotype"
[Term]
id: DI-02852
name: Fanconi anemia complementation group O
def: "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair." []
xref: MedGen:C3150653
xref: MeSH:D005199
xref: MIM:613390 "phenotype"
[Term]
id: DI-02853
name: Congenital heart defects, multiple types, 2
def: "A disease characterized by congenital developmental abnormalities involving structures of the heart. CHTD2 patients have left ventricular outflow tract obstruction, subaortic stenosis, residual aortic regurgitation, atrial fibrillation, bicuspid aortic valve and aortic dilation." []
synonym: "Congenital heart defects non-syndromic 2" [UniProt]
xref: MedGen:C3150216
xref: MedGen:C3554279
xref: MeSH:D006330
xref: MIM:614980 "phenotype"
[Term]
id: DI-02854
name: Combined oxidative phosphorylation deficiency 6
def: "A mitochondrial disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting. Some patients manifest prenatal ventriculomegaly and severe postnatal encephalomyopathy." []
synonym: "Encephalomyopathy mitochondrial X-linked" [UniProt]
xref: MedGen:C3151753
xref: MeSH:D017237
xref: MIM:300816 "phenotype"
[Term]
id: DI-02855
name: Microcephaly, seizures, and developmental delay
def: "An autosomal recessive neurodevelopmental disorder characterized by infantile-onset seizures, microcephaly, severe intellectual disability and delayed motor milestones with absent speech or only achieving a few words. Most patients also have behavioral problems with hyperactivity. Microcephaly is progressive and without neuronal migration or structural abnormalities, consistent with primary microcephaly." []
synonym: "DEE10" [UniProt]
synonym: "Developmental and epileptic encephalopathy 10" [UniProt]
synonym: "Early infantile epileptic encephalopathy 10" [UniProt]
synonym: "EIEE10" [UniProt]
xref: MedGen:C3150667
xref: MeSH:D008831
xref: MeSH:D013036
xref: MIM:613402 "phenotype"
[Term]
id: DI-02856
name: Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
def: "An autosomal dominant disorder characterized by impaired intellectual development, absent speech, hypotonia, poor eye contact and stereotypic movements. Dysmorphic features include high broad forehead with variable small chin, short nose with anteverted nares, large open mouth, upslanted palpebral fissures and prominent eyebrows. Some patients have seizures." []
synonym: "MRD20" [UniProt]
xref: MedGen:C3150700
xref: MeSH:D004827
xref: MeSH:D008607
xref: MeSH:D019956
xref: MIM:613443 "phenotype"
[Term]
id: DI-02857
name: Birbeck granule deficiency
def: "A condition characterized by the absence of Birbeck granules in epidermal Langerhans cells. Despite the lack of Birbeck granules, Langerhans cells are present in normal numbers and have normal morphologic characteristics and antigen-presenting capacity." []
synonym: "Absence of Birbeck granules" [UniProt]
xref: MedGen:C3150657
xref: MIM:613393 "phenotype"
[Term]
id: DI-02858
name: Spondylo-megaepiphyseal-metaphyseal dysplasia
def: "A skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk, relatively long limbs that may show flexion contractures of the distal joints, delayed and impaired ossification of the vertebral bodies, the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones, and numerous pseudoepiphyses of the short tubular bones in hands and feet." []
xref: MedGen:C2750066
xref: MeSH:D001848
xref: MIM:613330 "phenotype"
[Term]
id: DI-02859
name: Amyotrophic lateral sclerosis 13
def: "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases." []
xref: MedGen:C3149907
xref: MeSH:D000690
xref: MIM:183090 "phenotype"
[Term]
id: DI-02860
name: Microcephaly 4, primary, autosomal recessive
def: "A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have mild to moderate intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder." []
xref: MedGen:C1858516
xref: MeSH:D008831
xref: MIM:604321 "phenotype"
[Term]
id: DI-02861
name: Meckel syndrome 7
def: "A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly." []
xref: MedGen:C2673885
xref: MeSH:D002925
xref: MeSH:D004677
xref: MeSH:D007690
xref: MIM:267010 "phenotype"
[Term]
id: DI-02862
name: Meckel syndrome 2
def: "A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly." []
xref: MedGen:C1864148
xref: MeSH:D002925
xref: MeSH:D004677
xref: MeSH:D007690
xref: MIM:603194 "phenotype"
[Term]
id: DI-02863
name: Congenital disorder of glycosylation 1Q
def: "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions." []
synonym: "CDG Iq" [UniProt]
synonym: "CDG-Iq" [UniProt]
synonym: "CDGIq" [UniProt]
synonym: "Congenital disorder of glycosylation 1q" [UniProt]
synonym: "Congenital disorder of glycosylation type Iq" [UniProt]
synonym: "Ocular coloboma ichthyosis brain malformations and endocrine abnormalities" [UniProt]
xref: MedGen:C3150191
xref: MeSH:D018981
xref: MIM:612379 "phenotype"
[Term]
id: DI-02864
name: Focal segmental glomerulosclerosis 4
def: "A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation." []
xref: MedGen:C2675525
xref: MeSH:D005923
xref: MIM:612551 "phenotype"
[Term]
id: DI-02865
name: Kabuki syndrome 1
def: "An autosomal dominant, congenital syndrome characterized by intellectual disability and additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy." []
synonym: "Kabuki make-up syndrome" [UniProt]
synonym: "Kabuki syndrome" [UniProt]
synonym: "KMS" [UniProt]
synonym: "Niikawa-Kuroki syndrome" [UniProt]
xref: MedGen:C0796004
xref: MeSH:D000015
xref: MIM:147920 "phenotype"
[Term]
id: DI-02866
name: Blue cone monochromacy
def: "A rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia." []
synonym: "Blue cone monochromatism" [UniProt]
synonym: "CBBM" [UniProt]
synonym: "Colorblindness blue-mono-cone-monochromatic type" [UniProt]
xref: MedGen:C0339537
xref: MeSH:D003117
xref: MIM:303700 "phenotype"
[Term]
id: DI-02867
name: Bleeding disorder, platelet-type, 8
def: "A condition characterized by mild to moderate mucocutaneous bleeding, and excessive bleeding after surgery or trauma. The defect is due to severe impairment of platelet response to ADP resulting in defective platelet aggregation." []
synonym: "ADP platelet receptor P2Y12 deficiency" [UniProt]
synonym: "Bleeding disorder due to P2RY12 defect" [UniProt]
synonym: "P2RY12 deficiency" [UniProt]
synonym: "P2Y12 deficiency" [UniProt]
xref: MedGen:C1853278
xref: MedGen:C3277555
xref: MeSH:D001791
xref: MeSH:D006470
xref: MIM:609821 "phenotype"
[Term]
id: DI-02868
name: Allergic rhinitis
def: "A common disease with complex inheritance characterized by mucosal inflammation caused by allergen exposure." []
xref: MedGen:C2607914
xref: MeSH:D006255
xref: MeSH:D012221
xref: MIM:607154 "phenotype"
[Term]
id: DI-02869
name: Asthma-related traits 1
def: "Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis." []
xref: MedGen:C1846534
xref: MeSH:D001249
xref: MIM:607277 "phenotype"
[Term]
id: DI-02870
name: Asthma-related traits 5
def: "Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis." []
xref: MedGen:C1970224
xref: MeSH:D001249
xref: MIM:611064 "phenotype"
[Term]
id: DI-02871
name: Asthma-related traits 7
def: "Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis." []
xref: MedGen:C2677770
xref: MeSH:D001249
xref: MIM:611960 "phenotype"
[Term]
id: DI-02872
name: Urban-Rifkin-Davis syndrome
def: "A syndrome characterized by disrupted pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial and dermal development. Clinical features include cutis laxa, mild cardiovascular lesions, respiratory distress with cystic and atelectatic changes in the lungs, and diverticulosis, tortuosity and stenosis at various levels of the intestinal tract. Craniofacial features include microretrognathia, flat midface, receding forehead and wide fontanelles." []
synonym: "Cutis laxa with severe pulmonary gastrointestinal and urinary abnormalities" [UniProt]
xref: MedGen:C2750804
xref: MeSH:D003483
xref: MIM:613177 "phenotype"
[Term]
id: DI-02873
name: Agammaglobulinemia 3, autosomal recessive
def: "A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life." []
synonym: "Agammaglobulinemia autosomal recessive due to CD79A defect" [UniProt]
xref: MedGen:C3150751
xref: MeSH:D000361
xref: MIM:613501 "phenotype"
[Term]
id: DI-02874
name: Agammaglobulinemia 4, autosomal recessive
def: "A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life." []
synonym: "Agammaglobulinemia autosomal recessive due to BLNK defect" [UniProt]
xref: MedGen:C3150752
xref: MeSH:D000361
xref: MIM:613502 "phenotype"
[Term]
id: DI-02875
name: Agammaglobulinemia 5, autosomal dominant
def: "A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life." []
synonym: "Agammaglobulinemia autosomal dominant due to LRRC8A defect" [UniProt]
xref: MedGen:C3150753
xref: MeSH:D000361
xref: MIM:613506 "phenotype"
[Term]
id: DI-02876
name: Hurthle cell thyroid carcinoma
def: "A rare type of thyroid cancer accounting for only about 3-10% of all differentiated thyroid cancers. These neoplasms are considered a variant of follicular carcinoma of the thyroid and are referred to as follicular carcinoma, oxyphilic type." []
synonym: "Hurthle cell carcinoma" [UniProt]
synonym: "Hurthle cell thyroid neoplasia" [UniProt]
xref: MedGen:C0749424
xref: MeSH:D013964
xref: MIM:607464 "phenotype"
[Term]
id: DI-02877
name: Caudal duplication anomaly
def: "A condition characterized by the occurrence of duplications of different organs in the caudal region." []
xref: MedGen:C1842884
xref: MeSH:D000015
xref: MIM:607864 "phenotype"
[Term]
id: DI-02878
name: Autoimmune thyroid disease 3
def: "A complex autoimmune disorder comprising two related diseases affecting the thyroid: Graves disease and Hashimoto thyroiditis. In both disorders, thyroid-reactive T-cells are formed and infiltrate the thyroid gland. In Graves disease, the majority of the T-cells undergo a Th2 differentiation and activate B-cells to produce antibodies against the TSH receptor, which stimulate the thyroid and cause clinical hyperthyroidism. In contrast, Hashimoto thyroiditis is characterized by Th1 switching of the thyroid-infiltrating T-cells, which induces apoptosis of thyroid follicular cells and clinical hypothyroidism." []
xref: MedGen:C1842444
xref: MeSH:D006111
xref: MeSH:D013959
xref: MeSH:D013967
xref: MIM:608175 "phenotype"
[Term]
id: DI-02879
name: Stevens-Johnson syndrome
def: "A rare blistering mucocutaneous disease that share clinical and histopathologic features with toxic epidermal necrolysis. Both disorders are characterized by high fever, malaise, and a rapidly developing blistering exanthema of macules and target-like lesions accompanied by mucosal involvement. Stevens-Johnson syndrome is a milder disease characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area. Ocular symptoms include ulcerative conjunctivitis, keratitis, iritis, uveitis and sometimes blindness. It can be caused by a severe adverse reaction to particular types of medication, although Mycoplasma infections may induce some cases." []
synonym: "Dermatostomatitis Stevens Johnson type" [UniProt]
synonym: "TEN" [UniProt]
synonym: "Toxic epidermal necrolysis" [UniProt]
xref: MedGen:C1837818
xref: MedGen:C1840548
xref: MedGen:C2608081
xref: MedGen:C3277286
xref: MeSH:D013262
xref: MIM:608579 "phenotype"
[Term]
id: DI-02880
name: Asthma-related traits 2
def: "Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis." []
xref: MedGen:C1837811
xref: MeSH:D001249
xref: MIM:608584 "phenotype"
[Term]
id: DI-02881
name: Idiopathic scoliosis 3
def: "An abnormality of the vertebral column in which patients develop lateral curvature of the spine of at least 10 degrees." []
xref: MedGen:C1837461
xref: MeSH:D012600
xref: MIM:608765 "phenotype"
[Term]
id: DI-02882
name: Tumor predisposition syndrome 4
def: "A disorder characterized by an increased risk for developing various types of benign and/or malignant neoplasms that arise at an accelerated rate and in different organs." []
synonym: "Cancer predisposition syndrome, CHEK2-related" [UniProt]
synonym: "LFS2" [UniProt]
synonym: "Li-Fraumeni syndrome 2" [UniProt]
xref: MedGen:C1836482
xref: MeSH:D016864
xref: MIM:609265 "phenotype"
[Term]
id: DI-02883
name: Celiac disease 3
def: "A multifactorial, chronic disorder of the small intestine caused by intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed intestinal absorption, and malnutrition. In predisposed individuals, the ingestion of gluten- containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes." []
synonym: "Gluten-sensitive enteropathy 3" [UniProt]
xref: MedGen:C1857845
xref: MeSH:D002446
xref: MIM:609755 "phenotype"
[Term]
id: DI-02884
name: Celiac disease 4
def: "A multifactorial, chronic disorder of the small intestine caused by intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed intestinal absorption, and malnutrition. In predisposed individuals, the ingestion of gluten- containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes." []
synonym: "Gluten-sensitive enteropathy 4" [UniProt]
xref: MedGen:C1857847
xref: MeSH:D002446
xref: MIM:609753 "phenotype"
[Term]
id: DI-02885
name: Celiac disease 13
def: "A multifactorial, chronic disorder of the small intestine caused by intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed intestinal absorption, and malnutrition. In predisposed individuals, the ingestion of gluten- containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes." []
synonym: "Gluten-sensitive enteropathy 13" [UniProt]
xref: MedGen:C2677601
xref: MeSH:D002446
xref: MIM:612011 "phenotype"
[Term]
id: DI-02886
name: Gallbladder disease 4
def: "One of the major digestive diseases. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations in western countries. Most people with gallstones, however, remain asymptomatic through their lifetimes." []
xref: MedGen:C1969115
xref: MeSH:D005705
xref: MIM:611465 "phenotype"
[Term]
id: DI-02887
name: Deafness, sensorineural, mitochondrial
def: "A form of non-syndromic deafness with maternal inheritance. Affected individuals manifest progressive, postlingual, sensorineural hearing loss involving high frequencies." []
xref: MedGen:C3151897
xref: MeSH:D006319
xref: MIM:500008 "phenotype"
[Term]
id: DI-02888
name: Agammaglobulinemia 2, autosomal recessive
def: "A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life." []
synonym: "Agammaglobulinemia autosomal recessive due to IGLL1 defect" [UniProt]
xref: MedGen:C3150750
xref: MeSH:D000361
xref: MIM:613500 "phenotype"
[Term]
id: DI-02889
name: Agammaglobulinemia 6, autosomal recessive
def: "A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life." []
synonym: "Agammaglobulinemia autosomal recessive due to CD79B defect" [UniProt]
xref: MedGen:C3150207
xref: MeSH:D000361
xref: MIM:612692 "phenotype"
[Term]
id: DI-02890
name: Major affective disorder 7
def: "A major psychiatric disorder that is characterized by severe mood swings, with fluctuation between two abnormal mood states (manic or major depressive episode). Mania is accompanied by symptoms of euphoria, irritability, or excitation, whereas depression is associated with low mood and decreased motivation and energy." []
synonym: "Bipolar affective disorder" [UniProt]
synonym: "Manic depressive illness" [UniProt]
synonym: "Manic-depressive psychosis" [UniProt]
xref: MedGen:C2700438
xref: MeSH:D001714
xref: MIM:612371 "phenotype"
[Term]
id: DI-02891
name: Colorectal cancer 3
def: "A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history." []
synonym: "Susceptibility to colorectal cancer on chromosome 18" [UniProt]
xref: MedGen:C2677123
xref: MeSH:D015179
xref: MIM:612229 "phenotype"
[Term]
id: DI-02892
name: Kawasaki disease
def: "An acute, self-limited vasculitis of infants and children characterized by prolonged fever unresponsive to antibiotics, polymorphous skin rash, erythema of the oral mucosa, lips, and tongue, erythema of the palms and soles, bilateral conjunctival injection, and cervical lymphadenopathy." []
synonym: "Infantile polyarteritis" [UniProt]
synonym: "Mucocutaneous lymph node syndrome" [UniProt]
xref: MedGen:C0026691
xref: MedGen:C2936917
xref: MeSH:D009080
xref: MIM:611775 "phenotype"
[Term]
id: DI-02893
name: Cystinosis, adult, non-nephropathic type
def: "A form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Cystinosis adult non-nephropathic type is characterized by ocular features and a benign course. Patients manifest mild photophobia due to conjunctival and corneal cystine crystals." []
synonym: "Cystinosis adult nonnephropathic" [UniProt]
synonym: "Cystinosis benign nonnephropathic" [UniProt]
synonym: "Cystinosis ocular nonnephropathic" [UniProt]
xref: MedGen:C1857413
xref: MedGen:C2931013
xref: MeSH:D003554
xref: MIM:219750 "phenotype"
[Term]
id: DI-02894
name: Cystinosis, late-onset juvenile or adolescent nephropathic type
def: "A form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Late-onset juvenile or adolescent nephropathic cystinosis is an intermediated form, manifesting first at age 10 to 12 years with proteinuria due to glomerular damage rather than with the manifestations of tubular damage that occur first in infantile cystinosis. There is no excess amino aciduria and stature is normal. Photophobia, late development of pigmentary retinopathy, and chronic headaches are features." []
synonym: "Cystinosis intermediate" [UniProt]
xref: MedGen:C0268626
xref: MeSH:D003554
xref: MIM:219900 "phenotype"
[Term]
id: DI-02895
name: Rhabdoid tumor predisposition syndrome 2
def: "A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood." []
xref: MedGen:C2750074
xref: MeSH:D018335
xref: MIM:613325 "phenotype"
[Term]
id: DI-02896
name: Retinitis pigmentosa 55
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C3150808
xref: MeSH:D012174
xref: MIM:613575 "phenotype"
[Term]
id: DI-02897
name: Chudley-McCullough syndrome
def: "An autosomal recessive neurologic disorder characterized by early- onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal." []
synonym: "Deafness autosomal recessive 82" [UniProt]
synonym: "DFNB82" [UniProt]
synonym: "Sensorineural deafness with partial agenesis of the corpus callosum and arachnoid cysts" [UniProt]
xref: MedGen:C1858695
xref: MeSH:D006319
xref: MeSH:D016080
xref: MeSH:D061085
xref: MIM:604213 "phenotype"
[Term]
id: DI-02898
name: Nephronophthisis 11
def: "A disorder characterized by the association of nephronophthisis with hepatic fibrosis. Nephronophthisis is a progressive tubulo- interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Typical clinical features are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms, especially ocular lesions, are frequent." []
xref: MedGen:C3150796
xref: MeSH:D052177
xref: MIM:613550 "phenotype"
[Term]
id: DI-02899
name: Ectodermal dysplasia-syndactyly syndrome 1
def: "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDSS1 is characterized by the association of hair and teeth abnormalities with cutaneous syndactyly of the hands and/or feet. Hair morphologic abnormalities include twists at irregular intervals (pilli torti) and swelling along the shafts, particularly associated with areas of breakage. Dental findings consist of abnormally widely spaced teeth, with peg-shaped and conical crowns. Patients have normal sweating." []
xref: MedGen:C3150807
xref: MeSH:D004476
xref: MIM:613573 "phenotype"
[Term]
id: DI-02900
name: Combined oxidative phosphorylation deficiency 7
def: "A mitochondrial disease resulting in encephalomyopathy. Clinical manifestations include psychomotor delay and regression, ataxia, optic atrophy, nystagmus and muscle atrophy and weakness." []
xref: MedGen:C3150801
xref: MeSH:D017237
xref: MIM:613559 "phenotype"
[Term]
id: DI-02901
name: Nephronophthisis-like nephropathy 1
def: "An autosomal recessive disorder with features of nephronophthisis, a cystic kidney disease leading to end-stage renal failure. Nephronophthisis is histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Typical clinical manifestation are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms are frequent. In NPHPL1 patients, extrarenal symptoms include hypertension, essential tremor, sensorineural hearing loss and gout. Severely affected individuals can manifest a mitochondrial disorder with isolated complex I deficiency activity in muscle, seizures, intellectual disability and hypertrophic dilated cardiomyopathy." []
xref: MedGen:C3150419
xref: MeSH:D052177
xref: MIM:613159 "phenotype"
[Term]
id: DI-02902
name: Myopathy with lactic acidosis and sideroblastic anemia 2
def: "A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest sideroblastic anemia, progressive lethargy, muscle weakness, and exercise intolerance associated with persistent lactic acidemia." []
xref: MedGen:C3150802
xref: MeSH:D000140
xref: MeSH:D000756
xref: MIM:613561 "phenotype"
[Term]
id: DI-02903
name: von Willebrand disease 1
def: "A common hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in impaired platelet aggregation. Von Willebrand disease type 1 is characterized by partial quantitative deficiency of circulating von Willebrand factor, that is otherwise structurally and functionally normal. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma." []
synonym: "von Willebrand disease type I" [UniProt]
synonym: "von Willebrand factor deficiency type 1" [UniProt]
xref: MedGen:C1264039
xref: MeSH:D056725
xref: MIM:193400 "phenotype"
[Term]
id: DI-02904
name: von Willebrand disease 2
def: "A hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in altered platelet aggregation. Von Willebrand disease type 2 is characterized by qualitative deficiency and functional anomalies of von Willebrand factor. It is divided in different subtypes including 2A, 2B, 2M and 2N (Normandy variant). The mutant VWF protein in types 2A, 2B and 2M are defective in their platelet- dependent function, whereas the mutant protein in type 2N is defective in its ability to bind factor VIII. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma." []
synonym: "Von Willebrand disease Normandy variant" [UniProt]
synonym: "Von Willebrand disease type 2 Malmo" [UniProt]
synonym: "Von Willebrand disease type 2A" [UniProt]
synonym: "Von Willebrand disease type 2B" [UniProt]
synonym: "Von Willebrand disease type 2M" [UniProt]
synonym: "Von Willebrand disease type 2N" [UniProt]
synonym: "Von Willebrand disease type I New York" [UniProt]
synonym: "von Willebrand disease type II" [UniProt]
synonym: "von Willebrand factor deficiency type 2" [UniProt]
synonym: "VWD2A" [UniProt]
synonym: "VWD2B" [UniProt]
synonym: "VWD2M" [UniProt]
synonym: "VWD2N" [UniProt]
xref: MedGen:C1264040
xref: MedGen:C1282968
xref: MedGen:C1282971
xref: MedGen:C1282974
xref: MedGen:C1282975
xref: MeSH:D056728
xref: MIM:613554 "phenotype"
[Term]
id: DI-02905
name: Cone dystrophy 5
def: "An X-linked cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs." []
synonym: "Cone dystrophy 5 X-linked" [UniProt]
xref: MedGen:CN069543
xref: MeSH:D058499
xref: MIM:303700 "phenotype"
[Term]
id: DI-02906
name: Cardiomyopathy, dilated, with hypergonadotropic hypogonadism
def: "A disorder characterized by the association of genital anomalies, hypergonadotropic hypogonadism and dilated cardiomyopathy. Patients can present other variable clinical manifestations including intellectual disability, skeletal anomalies, scleroderma-like skin, graying and thinning of hair, osteoporosis. Dilated cardiomyopathy is characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia." []
synonym: "Cardiogenital syndrome" [UniProt]
synonym: "Cardiomyopathy congestive with hypergonadotropic hypogonadism" [UniProt]
synonym: "Cardiomyopathy dilated with premature ovarian failure" [UniProt]
synonym: "Cardiomyopathy with primary testicular failure" [UniProt]
synonym: "Genital anomaly with cardiomyopathy" [UniProt]
synonym: "Malouf syndrome" [UniProt]
synonym: "Najjar syndrome" [UniProt]
xref: MedGen:C0796031
xref: MedGen:C0796083
xref: MeSH:D002311
xref: MIM:212112 "phenotype"
[Term]
id: DI-02907
name: Retinitis pigmentosa 56
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C3150819
xref: MeSH:D012174
xref: MIM:613581 "phenotype"
[Term]
id: DI-02908
name: Retinitis pigmentosa 57
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C3150821
xref: MeSH:D012174
xref: MIM:613582 "phenotype"
[Term]
id: DI-02909
name: Retinitis pigmentosa 58
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C3150879
xref: MeSH:D012174
xref: MIM:613617 "phenotype"
[Term]
id: DI-02910
name: Maculopathy, IMPG2-related
def: "A mild maculopathy characterized by full-field electroretinogram responses within normal limits, normal color vision, elevation of the photoreceptor layer in the foveal region and mild nuclear sclerosis." []
xref: MedGen:C3150820
xref: MeSH:D008268
xref: MIM:613581 "phenotype"
[Term]
id: DI-02911
name: Retinitis pigmentosa 28
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C1853734
xref: MeSH:D012174
xref: MIM:606068 "phenotype"
[Term]
id: DI-02912
name: Congenital disorder of glycosylation 2I
def: "A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Congenital disorder of glycosylation type 2I is characterized by mild neurological impairments." []
synonym: "CDG IIi" [UniProt]
synonym: "CDG-IIi" [UniProt]
synonym: "CDGIIi" [UniProt]
synonym: "Congenital disorder of glycosylation type IIi" [UniProt]
xref: MedGen:C3150876
xref: MeSH:D018981
xref: MIM:613612 "phenotype"
[Term]
id: DI-02913
name: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
def: "A syndrome characterized by a phenotype reminiscent of Noonan syndrome. Clinical features are highly variable, including facial dysmorphism, short neck, developmental delay, hyperextensible joints and thorax abnormalities with widely spaced nipples. The facial features consist of triangular face with hypertelorism, large low-set ears, ptosis, and flat nasal bridge. Some patients manifest cardiac defects. Some have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia." []
xref: MedGen:C3150803
xref: MeSH:D019465
xref: MIM:613563 "phenotype"
[Term]
id: DI-02914
name: Terminal osseous dysplasia
def: "A rare X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin and recurrent digital fibroma during infancy. A significant phenotypic variability is observed in affected females." []
synonym: "Digital osseous dysplasia with facial pigmentary defects and multiple frenula" [UniProt]
synonym: "ODPD" [UniProt]
synonym: "ODPF" [UniProt]
synonym: "ODPF syndrome" [UniProt]
synonym: "Osseous dysplasia and pigmentary defects" [UniProt]
synonym: "Terminal osseous dysplasia and pigmentary defects" [UniProt]
synonym: "TODPD" [UniProt]
xref: MedGen:C1846129
xref: MeSH:D001848
xref: MIM:300244 "phenotype"
[Term]
id: DI-02915
name: Cardiac valvular dysplasia, X-linked
def: "A rare X-linked heart disease characterized by mitral and/or aortic valve regurgitation. The histologic features include fragmentation of collagenous bundles within the valve fibrosa and accumulation of proteoglycans, which produces excessive valve tissue leading to billowing of the valve leaflets." []
synonym: "Congenital valvular heart disease" [UniProt]
synonym: "EDS5" [UniProt]
synonym: "Ehlers-Danlos syndrome type V" [UniProt]
synonym: "X-linked myxomatous valvular dystrophy" [UniProt]
synonym: "XMVD" [UniProt]
xref: MedGen:C0262436
xref: MeSH:D006349
xref: MIM:314400 "phenotype"
[Term]
id: DI-02916
name: Cranioectodermal dysplasia 2
def: "A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include short stature, dolichocephaly, craniosynostosis, narrow thorax with pectus excavatum, short limbs, brachydactyly, joint laxity, narrow palpebral fissures, telecanthus with hypertelorism, low-set simple ears, everted lower lip, and short neck. Teeth abnormalities include widely spaced, hypoplastic and fused teeth." []
synonym: "Sensenbrenner syndrome 2" [UniProt]
xref: MedGen:C3150874
xref: MeSH:D004476
xref: MIM:613610 "phenotype"
[Term]
id: DI-02917
name: Hyperoxaluria primary 3
def: "A disorder phenotypically similar to hyperoxaluria type 1 and type 2. It is characterized by increase in urinary oxalate excretion and mild glycolic aciduria. Clinical manifestations include calcium oxalate urolithiasis, hematuria, pain, and/or urinary tract infection." []
synonym: "Hyperoxaluria non-HP1/non-HP2" [UniProt]
synonym: "Hyperoxaluria non-PH I/PH II form" [UniProt]
synonym: "Hyperoxaluria primary type III" [UniProt]
xref: MedGen:C3150878
xref: MeSH:D006960
xref: MIM:613616 "phenotype"
[Term]
id: DI-02918
name: Retinitis pigmentosa 53
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP53 inheritance is autosomal dominant or autosomal recessive." []
xref: MedGen:C3150208
xref: MeSH:D012174
xref: MIM:612712 "phenotype"
[Term]
id: DI-02920
name: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
def: "A slowly progressive neurologic disorder with a variable phenotype resembling Refsum disease. Clinical features include sensorineural hearing loss, visual problems related to cataracts, retinitis pigmentosa, pes cavus, ataxic and/or spastic gait disturbances with a progressive sensorimotor peripheral neuropathy. Other features include hyporeflexia, hyperreflexia, extensor plantar responses." []
xref: MedGen:C2675204
xref: MeSH:D001259
xref: MeSH:D002386
xref: MeSH:D006319
xref: MeSH:D012174
xref: MeSH:D015417
xref: MIM:612674 "phenotype"
[Term]
id: DI-02921
name: Hyperphosphatasia with impaired intellectual development syndrome 1
def: "A severe syndrome characterized by elevated serum alkaline phosphatase, severe intellectual disability, seizures, hypotonia, facial dysmorphism, and hypoplastic terminal phalanges." []
synonym: "Glycosylphosphatidylinositol biosynthesis defect 2" [UniProt]
synonym: "GPIBD2" [UniProt]
synonym: "Mabry syndrome" [UniProt]
xref: MedGen:C1855923
xref: MeSH:D008607
xref: MeSH:D010760
xref: MIM:239300 "phenotype"
[Term]
id: DI-02922
name: Cataract 40
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT40 manifests as a congenital nuclear opacity with severe visual impairment in affected males. Heterozygous females have suture cataracts and only slight reduction in vision. In some cases, cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye." []
synonym: "Cataract 40 with or without microcornea" [UniProt]
synonym: "CCT" [UniProt]
synonym: "Congenital total cataract with posterior sutural opacities in heterozygotes" [UniProt]
synonym: "X-linked congenital cataract" [UniProt]
xref: MedGen:C2752078
xref: MedGen:C2930878
xref: MeSH:D002386
xref: MIM:302200 "phenotype"
[Term]
id: DI-02924
name: Colorectal cancer 1
def: "A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history." []
synonym: "Susceptibility to colorectal adenoma and cancer" [UniProt]
synonym: "Susceptibility to colorectal cancer on chromosome 9" [UniProt]
xref: MedGen:C1837315
xref: MeSH:D015179
xref: MIM:608812 "phenotype"
[Term]
id: DI-02925
name: Pseudo-TORCH syndrome 1
def: "An autosomal recessive neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. Affected individuals have congenital microcephaly, intracranial calcifications, and severe developmental delay." []
synonym: "Band-like calcification with simplified gyration and polymicrogyria" [UniProt]
synonym: "Baraitser Brett Piesowicz syndrome" [UniProt]
synonym: "BLCPMG" [UniProt]
synonym: "Pseudo-TORCH syndrome" [UniProt]
xref: MedGen:C3489725
xref: MeSH:D009422
xref: MIM:251290 "phenotype"
[Term]
id: DI-02926
name: Familial infantile myoclonic epilepsy
def: "A subtype of idiopathic epilepsy starting in early infancy and manifesting as myoclonic seizures, febrile convulsions, and tonic- clonic seizures." []
synonym: "EIM" [UniProt]
xref: MedGen:C0917800
xref: MeSH:D004831
xref: MIM:605021 "phenotype"
[Term]
id: DI-02927
name: Autoimmune disease 6
def: "Individuals manifesting susceptibility to autoimmune disease type 6 can suffer from juvenile idiopathic arthritis, rheumatoid arthritis, multiple sclerosis, Sjogren syndrome, systemic lupus erythematosus, type 1 diabetes, ulcerative colitis, and Crohn disease." []
synonym: "Autoimmune disease susceptibility 6" [UniProt]
xref: MedGen:C3150797
xref: MeSH:D001327
xref: MIM:613551 "phenotype"
[Term]
id: DI-02928
name: Alpha-1-antitrypsin deficiency
def: "A disorder whose most common manifestation is emphysema, which becomes evident by the third to fourth decade. A less common manifestation of the deficiency is liver disease, which occurs in children and adults, and may result in cirrhosis and liver failure. Environmental factors, particularly cigarette smoking, greatly increase the risk of emphysema at an earlier age." []
xref: MedGen:C0221757
xref: MeSH:D019896
xref: MIM:613490 "phenotype"
[Term]
id: DI-02929
name: Mononeuropathy of the median nerve mild
def: "A disease characterized by median nerve mononeuropathy at the wrist. The clinical presentation ranges from a mild phenotype, consistent with carpal tunnel syndrome, to a severe median nerve mononeuropathy at the wrist associated with evidence of a more widespread axonal polyneuropathy. The latter phenotype is similar to that of patients with hereditary neuropathy with liability to pressure palsies." []
synonym: "Carpal tunnel syndrome" [UniProt]
xref: MedGen:C3150596
xref: MeSH:D002349
xref: MIM:613353 "phenotype"
[Term]
id: DI-02930
name: Dursun syndrome
def: "A disease characterized by pulmonary arterial hypertension, cardiac abnormalities including secundum-type atrial septal defect, intermittent neutropenia, lymphopenia, monocytosis and anemia." []
synonym: "Pulmonary arterial hypertension leukopenia and atrial septal defect" [UniProt]
xref: MedGen:C2751630
xref: MeSH:D009503
xref: MIM:612541 "phenotype"
[Term]
id: DI-02931
name: Generalized epilepsy with febrile seizures plus 7
def: "A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity." []
synonym: "GEFS+ type 7" [UniProt]
synonym: "GEFS+7" [UniProt]
xref: MedGen:C2751777
xref: MedGen:C2751778
xref: MeSH:D003294
xref: MeSH:D004829
xref: MIM:613863 "phenotype"
[Term]
id: DI-02932
name: Febrile seizures, familial, 3B
def: "Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy." []
synonym: "Familial febrile convulsions 3" [UniProt]
xref: MedGen:C0009952
xref: MedGen:C3151229
xref: MeSH:D003294
xref: MIM:613863 "phenotype"
[Term]
id: DI-02933
name: Spastic paraplegia 48, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body." []
xref: MedGen:C3150901
xref: MeSH:D015419
xref: MIM:613647 "phenotype"
[Term]
id: DI-02934
name: Migraine with or without aura 13
def: "A form of migraine transmitted in an autosomal dominant pattern. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. The two major subtypes are common migraine (migraine without aura) and classic migraine (migraine with aura). Classic migraine is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking." []
synonym: "Migraine with aura 13" [UniProt]
xref: MedGen:C3150908
xref: MeSH:D020325
xref: MeSH:D020326
xref: MIM:613656 "phenotype"
[Term]
id: DI-02936
name: Spastic paraplegia 35, autosomal recessive, with or without neurodegeneration
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG35 is a complicated form characterized by childhood onset of gait difficulties. It has a rapid progression and many patients become wheelchair-bound as young adults. Patients manifest cognitive decline associated with leukodystrophy. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur." []
synonym: "FAHN" [UniProt]
synonym: "Fatty acid hydroxylase-associated neurodegeneration" [UniProt]
synonym: "Leukodystrophy dysmyelinating and spastic paraparesis with or without dystonia" [UniProt]
synonym: "Spastic paraplegia 35, autosomal recessive" [UniProt]
xref: MedGen:C2676236
xref: MeSH:D015419
xref: MIM:612319 "phenotype"
[Term]
id: DI-02937
name: Pick disease of the brain
def: "A rare form of dementia pathologically defined by severe atrophy, neuronal loss and gliosis. It is characterized by the occurrence of tau-positive inclusions, swollen neurons (Pick cells) and argentophilic neuronal inclusions known as Pick bodies that disproportionally affect the frontal and temporal cortical regions. Clinical features include aphasia, apraxia, confusion, anomia, memory loss and personality deterioration." []
synonym: "Dementia with lobar atrophy and neuronal cytoplasmic inclusions" [UniProt]
synonym: "Lobar atrophy of brain" [UniProt]
xref: MedGen:C0236642
xref: MeSH:D020774
xref: MIM:172700 "phenotype"
[Term]
id: DI-02938
name: Bardet-Biedl syndrome 15
def: "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease." []
xref: MedGen:C3150127
xref: MeSH:D020788
xref: MIM:615992 "phenotype"
[Term]
id: DI-02939
name: Hyperglycinuria
def: "A condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones." []
synonym: "Glycinuria with or without oxalate nephrolithiasis" [UniProt]
synonym: "Glycinuria with or without oxalate urolithiasis" [UniProt]
synonym: "Iminoglycinuria type II" [UniProt]
xref: MedGen:C0543541
xref: MeSH:D000608
xref: MIM:138500 "phenotype"
[Term]
id: DI-02940
name: Iminoglycinuria
def: "A disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine." []
xref: MedGen:C0268654
xref: MeSH:D000608
xref: MIM:242600 "phenotype"
[Term]
id: DI-02941
name: Senior-Loken syndrome 7
def: "A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life." []
xref: MedGen:C3150877
xref: MeSH:D052177
xref: MeSH:D057130
xref: MIM:613615 "phenotype"
[Term]
id: DI-02942
name: Factor V and factor VIII combined deficiency 2
def: "A blood coagulation disorder characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, that are caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of normal." []
synonym: "MCFD2" [UniProt]
synonym: "Multiple coagulation factor deficiency 2" [UniProt]
xref: MedGen:C3150889
xref: MeSH:D025861
xref: MIM:613625 "phenotype"
[Term]
id: DI-02943
name: Neuropathy, hereditary sensory and autonomic, 1C
def: "A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by prominent sensory abnormalities with a variable degree of motor and autonomic dysfunction. The neurological phenotype is often complicated by severe infections, osteomyelitis, and amputations. HSAN1C symptoms include loss of touch and vibration in the feet, dysesthesia and severe panmodal sensory loss in the upper and lower limbs, distal lower limb sensory loss with ulceration and osteomyelitis, and distal muscle weakness." []
synonym: "Hereditary sensory neuropathy type IC" [UniProt]
synonym: "HSAN IC" [UniProt]
synonym: "HSN IC" [UniProt]
synonym: "HSN1C" [UniProt]
xref: MedGen:C3150896
xref: MeSH:D009477
xref: MIM:613640 "phenotype"
[Term]
id: DI-02944
name: Cone-rod dystrophy 15
def: "An autosomal recessive retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors." []
xref: MedGen:C3150912
xref: MeSH:D000071700
xref: MIM:613660 "phenotype"
[Term]
id: DI-02945
name: Cardiomyopathy, dilated, 1GG
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C3150898
xref: MeSH:D002311
xref: MIM:613642 "phenotype"
[Term]
id: DI-02946
name: Charcot-Marie-Tooth disease, recessive intermediate B
def: "A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec." []
synonym: "Charcot-Marie-Tooth neuropathy recessive intermediate B" [UniProt]
synonym: "RI-CMTB" [UniProt]
xref: MedGen:C3150897
xref: MeSH:D002607
xref: MIM:613641 "phenotype"
[Term]
id: DI-02947
name: Parkinson disease 5
def: "A complex neurodegenerative disorder with manifestations ranging from typical Parkinson disease to dementia with Lewy bodies. Clinical features include parkinsonian symptoms (resting tremor, rigidity, postural instability and bradykinesia), dementia, diffuse Lewy body pathology, autonomic dysfunction, hallucinations and paranoia." []
synonym: "Parkinson disease 5, autosomal dominant, susceptibility to" [UniProt]
synonym: "Parkinson disease autosomal dominant 5" [UniProt]
xref: MedGen:C3150899
xref: MeSH:D010300
xref: MIM:613643 "phenotype"
[Term]
id: DI-02948
name: Seckel syndrome 4
def: "A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability." []
xref: MedGen:CN074082
xref: MeSH:D004392
xref: MeSH:D008831
xref: MIM:613676 "phenotype"
[Term]
id: DI-02949
name: Spinocerebellar ataxia 23
def: "Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA23 is an adult-onset autosomal dominant form characterized by slowly progressive gait and limb ataxia, with variable additional features, including peripheral neuropathy and dysarthria." []
xref: MedGen:C1853250
xref: MeSH:D020754
xref: MIM:610245 "phenotype"
[Term]
id: DI-02950
name: Congenital disorder of glycosylation 1P
def: "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions." []
synonym: "CDG Ip" [UniProt]
synonym: "CDG-Ip" [UniProt]
synonym: "CDGIp" [UniProt]
synonym: "Congenital disorder of glycosylation type Ip" [UniProt]
xref: MedGen:C3150913
xref: MeSH:D018981
xref: MIM:613661 "phenotype"
[Term]
id: DI-02951
name: Impaired intellectual development, anterior maxillary protrusion, and strabismus
def: "A syndrome characterized by severe intellectual disability, strabismus and dysmorphic features such as anterior maxillary protrusion with vertical maxillary excess, open bite and prominent crowded teeth. Some patients may lack dysmorphic features and manifest temporal lobe epilepsy and psychosis. Esotropia and amblyopia are present in some individuals." []
xref: MedGen:C3150924
xref: MeSH:D008607
xref: MIM:613671 "phenotype"
[Term]
id: DI-02952
name: Spastic ataxia 4, autosomal recessive
def: "A slowly progressive neurodegenerative disease characterized by cerebellar ataxia, spastic paraparesis, dysarthria, and optic atrophy." []
xref: MedGen:C3150925
xref: MeSH:D002524
xref: MIM:613672 "phenotype"
[Term]
id: DI-02953
name: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5
def: "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease." []
synonym: "Muscle-eye-brain disease FKRP-related" [UniProt]
synonym: "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5" [UniProt]
synonym: "Walker-Warburg syndrome FKRP-related" [UniProt]
xref: MedGen:C3150413
xref: MeSH:D058494
xref: MIM:613153 "phenotype"
[Term]
id: DI-02954
name: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2
def: "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease." []
synonym: "Muscle-eye-brain disease POMT2-related" [UniProt]
synonym: "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2" [UniProt]
synonym: "Walker-Warburg syndrome POMT2-related" [UniProt]
xref: MedGen:C3150411
xref: MeSH:D058494
xref: MIM:613150 "phenotype"
[Term]
id: DI-02955
name: Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2
def: "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with intellectual disability and mild structural brain abnormalities." []
synonym: "Muscular dystrophy congenital POMT2-related" [UniProt]
xref: MedGen:C3150416
xref: MeSH:D009136
xref: MIM:613156 "phenotype"
[Term]
id: DI-02956
name: Muscular dystrophy-dystroglycanopathy limb-girdle C2
def: "An autosomal recessive muscular dystrophy with onset after ambulation is achieved. MDDGC2 is characterized by increased serum creatine kinase and mild muscle weakness. Muscle biopsy shows dystrophic changes, inflammatory changes, and severely decreased alpha- dystroglycan. Cognition is normal." []
synonym: "LGMD2N" [UniProt]
synonym: "LGMDR14" [UniProt]
synonym: "Limb-girdle muscular dystrophy type 2N" [UniProt]
synonym: "MDGD2C" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, autosomal recessive 14" [UniProt]
synonym: "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2" [UniProt]
synonym: "Muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related" [UniProt]
xref: MedGen:C3150418
xref: MeSH:D049288
xref: MIM:613158 "phenotype"
[Term]
id: DI-02957
name: Muscular dystrophy-dystroglycanopathy limb-girdle C3
def: "A rare form of limb-girdle muscular dystrophy with normal cognition. Muscle biopsy shows dystrophic changes with variable staining for glycosylated alpha-dystroglycan." []
synonym: "LGMDR15" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, autosomal recessive 15" [UniProt]
synonym: "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3" [UniProt]
synonym: "Muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related" [UniProt]
xref: MedGen:C3150417
xref: MeSH:D049288
xref: MIM:613157 "phenotype"
[Term]
id: DI-02958
name: Deafness, autosomal recessive, 74
def: "A form of non-syndromic sensorineural deafness characterized by prelingual, bilateral, profound hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:C2239351
xref: MeSH:D006319
xref: MIM:613718 "phenotype"
[Term]
id: DI-02959
name: Spinocerebellar ataxia, autosomal recessive, 10
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR10 is characterized by onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging." []
xref: MedGen:C3150998
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:613728 "phenotype"
[Term]
id: DI-02960
name: Nemaline myopathy 6
def: "A form of nemaline myopathy characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over." []
xref: MedGen:C1836472
xref: MeSH:D017696
xref: MIM:609273 "phenotype"
[Term]
id: DI-02961
name: Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3
def: "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with intellectual disability and mild structural brain abnormalities. Clinical features include intellectual disability, white matter changes, cerebellar cysts, pontine hypoplasia, myopia, optic atrophy, decreased alpha-dystroglycan on muscle biopsy and increased serum creatine kinase." []
synonym: "Muscular dystrophy congenital POMGNT1-related" [UniProt]
xref: MedGen:C3150412
xref: MeSH:D009136
xref: MIM:613151 "phenotype"
[Term]
id: DI-02962
name: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6
def: "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease." []
synonym: "Muscle-eye-brain disease LARGE-related" [UniProt]
synonym: "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6" [UniProt]
synonym: "Walker-Warburg syndrome LARGE-related" [UniProt]
xref: MedGen:C3150414
xref: MeSH:D058494
xref: MIM:613154 "phenotype"
[Term]
id: DI-02963
name: Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1
def: "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with intellectual disability and mild structural brain abnormalities." []
synonym: "Muscular dystrophy congenital POMT1-related" [UniProt]
synonym: "Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1" [UniProt]
xref: MedGen:C3150415
xref: MeSH:D009136
xref: MIM:613155 "phenotype"
[Term]
id: DI-02964
name: Treacher Collins syndrome 2
def: "A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss." []
xref: MedGen:C3150983
xref: MeSH:D008342
xref: MIM:613717 "phenotype"
[Term]
id: DI-02965
name: Treacher Collins syndrome 3
def: "A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss." []
synonym: "Mandibulofacial dysostosis Treacher Collins type autosomal recessive" [UniProt]
xref: MedGen:C1855433
xref: MeSH:D008342
xref: MIM:248390 "phenotype"
[Term]
id: DI-02966
name: Anemia, congenital dyserythropoietic, 4
def: "A blood disorder characterized by ineffective erythropoiesis and hemolysis resulting in anemia. Circulating erythroblasts and erythroblasts in the bone marrow show various morphologic abnormalities. Affected individuals with CDA4 also have increased levels of fetal hemoglobin." []
synonym: "CDA IV" [UniProt]
synonym: "Congenital dyserythropoietic anemia type IV" [UniProt]
xref: MedGen:C3150926
xref: MeSH:D000742
xref: MIM:613673 "phenotype"
[Term]
id: DI-02967
name: Cardiomyopathy, dilated, 1U
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C3160720
xref: MeSH:D002311
xref: MIM:613694 "phenotype"
[Term]
id: DI-02968
name: Cardiomyopathy, dilated, 1V
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C3150958
xref: MeSH:D002311
xref: MIM:613697 "phenotype"
[Term]
id: DI-02969
name: Spondyloepiphyseal dysplasia Maroteaux type
def: "A clinically variable spondyloepiphyseal dysplasia with manifestations limited to the musculoskeletal system. Clinical features include short stature, brachydactyly, platyspondyly, short and stubby hands and feet, epiphyseal hypoplasia of the large joints, and iliac hypoplasia. Intelligence is normal." []
synonym: "Pseudo-Morquio syndrome type 2" [UniProt]
synonym: "SED Maroteaux type" [UniProt]
xref: MedGen:C3159322
xref: MeSH:D010009
xref: MIM:184095 "phenotype"
[Term]
id: DI-02970
name: Parastremmatic dwarfism
def: "A bone dysplasia characterized by severe dwarfism, kyphoscoliosis, distortion and bowing of the extremities, and contractures of the large joints. Radiographically, the disease is characterized by a combination of decreased bone density, bowing of the long bones, platyspondyly and striking irregularities of endochondral ossification with areas of calcific stippling and streaking in radiolucent epiphyses, metaphyses and apophyses." []
xref: MedGen:C1868616
xref: MeSH:D004392
xref: MIM:168400 "phenotype"
[Term]
id: DI-02971
name: Gastric cancer
def: "A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease." []
synonym: "Gastric cancer intestinal" [UniProt]
synonym: "Stomach cancer" [UniProt]
xref: MedGen:C0699791
xref: MedGen:C3150911
xref: MeSH:D013274
xref: MIM:613659 "phenotype"
[Term]
id: DI-02972
name: Non-syndromic orofacial cleft 10
def: "A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum." []
synonym: "Non-syndromic cleft lip with or without cleft palate 10" [UniProt]
synonym: "Non-syndromic cleft lip/palate 10" [UniProt]
synonym: "Orofacial cleft 10" [UniProt]
xref: MedGen:C1866070
xref: MeSH:D002971
xref: MIM:613705 "phenotype"
[Term]
id: DI-02973
name: Klippel-Feil syndrome 3, autosomal dominant
def: "A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement." []
xref: MedGen:C3150967
xref: MeSH:D007714
xref: MIM:613702 "phenotype"
[Term]
id: DI-02974
name: Microphthalmia, isolated, 7
def: "A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present." []
xref: MedGen:C3150969
xref: MeSH:D008850
xref: MIM:613704 "phenotype"
[Term]
id: DI-02975
name: Microphthalmia/Coloboma 6
def: "A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure)." []
synonym: "Colobomatous microphthalmia 6" [UniProt]
synonym: "Microphthalmia, isolated, with coloboma, 6" [UniProt]
xref: MedGen:C3150968
xref: MeSH:D003103
xref: MeSH:D008850
xref: MIM:613703 "phenotype"
[Term]
id: DI-02976
name: Rubinstein-Taybi syndrome 2
def: "A disorder characterized by craniofacial abnormalities, postnatal growth deficiency, broad thumbs, broad big toes, intellectual disability and a propensity for development of malignancies. Some individuals with RSTS2 have less severe mental impairment, more severe microcephaly, and a greater degree of changes in facial bone structure than RSTS1 patients." []
xref: MedGen:C3150941
xref: MeSH:D012415
xref: MIM:613684 "phenotype"
[Term]
id: DI-02977
name: Vesicoureteral reflux 3
def: "A disease belonging to the group of congenital anomalies of the kidney and urinary tract. It is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys, and is a risk factor for urinary tract infections. Primary disease results from a developmental defect of the ureterovesical junction. In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy. Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, renal insufficiency and end-stage renal disease." []
xref: MedGen:C3150927
xref: MeSH:D014718
xref: MIM:613674 "phenotype"
[Term]
id: DI-02978
name: Cocoon syndrome
def: "A lethal syndrome characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin." []
synonym: "Fetal encasement syndrome" [UniProt]
xref: MedGen:C3150891
xref: MeSH:D005315
xref: MIM:613630 "phenotype"
[Term]
id: DI-02979
name: Methylmalonic aciduria, transient, due to transcobalamin receptor defect
def: "A metabolic disorder characterized by increased blood C3-acylcarnitine levels, elevated methylmalonate and homocysteine, and low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin." []
synonym: "Methylmalonic acidemia TCblR type" [UniProt]
synonym: "Methylmalonic aciduria due to transcobalamin receptor defect" [UniProt]
synonym: "Methylmalonic aciduria type TCblR" [UniProt]
xref: MedGen:C3150900
xref: MeSH:D008661
xref: MIM:613646 "phenotype"
[Term]
id: DI-02980
name: D-2-hydroxyglutaric aciduria 2
def: "A neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2-hydroxyglutaric acid in the urine." []
xref: MedGen:C3150909
xref: MeSH:D020739
xref: MIM:613657 "phenotype"
[Term]
id: DI-02981
name: Ichthyosis with confetti
def: "An autosomal dominant, rare skin condition characterized by slowly enlarging islands of normal skin surrounded by erythematous ichthyotic patches in a reticulated pattern. The condition starts in infancy as a lamellar ichthyosis, with small islands of normal skin resembling confetti appearing in late childhood and at puberty. Histopathologic findings include band-like parakeratosis, psoriasiform acanthosis, and vacuolization of keratinocytes with binucleated cells in the upper epidermis, sometimes associated with amyloid deposition in the dermis. Ultrastructural abnormalities include perinuclear shells formed from a network of fine filaments in the upper epidermis." []
synonym: "Aarau disease" [UniProt]
synonym: "CRIE" [UniProt]
synonym: "Erythroderma, ichthyosiform, congenital reticular" [UniProt]
synonym: "Ichthyosis variegata" [UniProt]
synonym: "Reticular erythrokeratoderma" [UniProt]
xref: MedGen:C1836681
xref: MedGen:C3665704
xref: MeSH:D016113
xref: MIM:609165 "phenotype"
[Term]
id: DI-02982
name: Hirschsprung disease 4
def: "A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child." []
xref: MedGen:C3150975
xref: MeSH:D006627
xref: MIM:613712 "phenotype"
[Term]
id: DI-02983
name: Microcephaly, postnatal progressive, with seizures and brain atrophy
def: "A disorder characterized by postnatal progressive microcephaly and severe developmental retardation associated with cerebral and cerebellar atrophy. Infants manifest swallowing difficulties leading to failure to thrive, jitteriness, poor visual fixation, truncal arching, seizures. There is no acquisition of developmental milestones and patients suffer from marked spasticity and profound retardation. Progressive microcephaly becomes evident few months after birth." []
xref: MedGen:C3150921
xref: MeSH:D008831
xref: MIM:613668 "phenotype"
[Term]
id: DI-02984
name: Intellectual developmental disorder with language impairment and with or without autistic features
def: "A developmental disorder characterized by mild to moderate intellectual disability, language impairment, and autistic features in some patients. Patients show global delay, delayed walking, severely delayed speech development, and behavioral abnormalities, including irritability, hyperactivity, aggression, and stereotypical rigid behaviors." []
xref: MedGen:C3150923
xref: MeSH:D001321
xref: MeSH:D007806
xref: MeSH:D008607
xref: MIM:613670 "phenotype"
[Term]
id: DI-02985
name: Hajdu-Cheney syndrome
def: "A rare, autosomal dominant skeletal disorder characterized by the association of facial anomalies, acro-osteolysis, general osteoporosis, insufficient ossification of the skull, and periodontal disease (premature loss of permanent teeth). Other features include cleft palate, congenital heart defects, polycystic kidneys, orthopedic problems and anomalies of the genitalia, intestines and eyes." []
synonym: "Acroosteolysis with osteoporosis and changes in skull and mandible" [UniProt]
synonym: "Arthrodentoosteodysplasia" [UniProt]
synonym: "Cheney syndrome" [UniProt]
synonym: "HCS" [UniProt]
synonym: "Serpentine fibula syndrome" [UniProt]
synonym: "Serpentine Fibula-Polycystic Kidney Syndrome" [UniProt]
synonym: "SFPKS" [UniProt]
xref: MedGen:C0917715
xref: MedGen:C1838257
xref: MeSH:D031845
xref: MIM:102500 "phenotype"
[Term]
id: DI-02986
name: Microphthalmia, isolated, 6
def: "A developmental ocular disorder characterized by small malformed eyes. Clinical features are extreme hyperopia due to short axial length with essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. Palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical disks, tortuous vessels, and an abnormal foveal avascular zone." []
synonym: "Autosomal recessive posterior microphthalmos" [UniProt]
synonym: "Posterior non-syndromic microphthalmia" [UniProt]
xref: MedGen:C3150757
xref: MeSH:D008850
xref: MIM:613517 "phenotype"
[Term]
id: DI-02987
name: Leukoencephalopathy with dystonia and motor neuropathy
def: "A syndrome characterized by leukoencephalopathy, dystonic head tremor, spasmodic torticollis and reduced tendon reflexes in lower extremities. Additional features include hyposmia, pathologic saccadic eye movements, a slight hypoacusis, accumulation of branched-chain pristanic acid in plasma, and the presence of abnormal bile alcohol glucuronides in urine." []
synonym: "Sterol carrier protein 2 deficiency" [UniProt]
xref: MedGen:C3150990
xref: MeSH:D056784
xref: MIM:613724 "phenotype"
[Term]
id: DI-02988
name: Mitochondrial DNA depletion syndrome 8B
def: "A disease due to mitochondrial dysfunction and characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy." []
synonym: "Mitochondrial DNA depletion syndrome 8B MNGIE type" [UniProt]
synonym: "Mitochondrial neurogastrointestinal encephalopathy syndrome RRM2B-related" [UniProt]
synonym: "MNGIE RRM2B-related" [UniProt]
xref: MedGen:C2749862
xref: MedGen:C3150172
xref: MeSH:D017237
xref: MIM:612075 "phenotype"
[Term]
id: DI-02989
name: Mitochondrial DNA depletion syndrome 4B
def: "An autosomal recessive progressive multisystem disorder due to mitochondrial dysfunction. It is clinically characterized by chronic gastrointestinal dysmotility and pseudo-obstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness." []
synonym: "Mitochondrial DNA depletion syndrome 4B MNGIE type" [UniProt]
synonym: "Mitochondrial neurogastrointestinal encephalopathy syndrome POLG-related" [UniProt]
synonym: "MNGIE POLG-related" [UniProt]
xref: MedGen:C3150914
xref: MeSH:D017237
xref: MIM:613662 "phenotype"
[Term]
id: DI-02990
name: Noonan syndrome 7
def: "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells." []
xref: MedGen:C3150970
xref: MeSH:D009634
xref: MIM:613706 "phenotype"
[Term]
id: DI-02991
name: LEOPARD syndrome 3
def: "A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness." []
xref: MedGen:C3150971
xref: MeSH:D044542
xref: MIM:613707 "phenotype"
[Term]
id: DI-02992
name: Developmental and epileptic encephalopathy 7
def: "An autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities." []
synonym: "EIEE7" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 7" [UniProt]
synonym: "Ohtahara syndrome" [UniProt]
xref: MedGen:C3150986
xref: MeSH:D013036
xref: MIM:613720 "phenotype"
[Term]
id: DI-02993
name: Developmental and epileptic encephalopathy 11
def: "An autosomal dominant seizure disorder characterized by neonatal or infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG." []
synonym: "EIEE11" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 11" [UniProt]
xref: MedGen:C3150987
xref: MeSH:D013036
xref: MIM:613721 "phenotype"
[Term]
id: DI-02994
name: Developmental and epileptic encephalopathy 12
def: "A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG." []
synonym: "EIEE12" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 12" [UniProt]
xref: MedGen:C3150988
xref: MeSH:D013036
xref: MIM:613722 "phenotype"
[Term]
id: DI-02995
name: Acne inversa, familial, 1
def: "A chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty." []
synonym: "Acne inversa familial" [UniProt]
synonym: "Hidradenitis suppurativa familial" [UniProt]
xref: MedGen:C1840560
xref: MeSH:D017497
xref: MIM:142690 "phenotype"
[Term]
id: DI-02996
name: Acne inversa, familial, 2, with or without Dowling-Degos disease
def: "An autosomal dominant form of acne inversa, a chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Some ACNINV2 patients also exhibit reticulate hyperpigmentation consistent with Dowling- Degos disease." []
synonym: "Acne inversa familial" [UniProt]
synonym: "Hidradenitis suppurativa familial" [UniProt]
xref: MedGen:C3151037
xref: MeSH:D017497
xref: MIM:613736 "phenotype"
[Term]
id: DI-02997
name: Acne inversa, familial, 3
def: "A chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty." []
synonym: "Acne inversa familial" [UniProt]
synonym: "Hidradenitis suppurativa familial" [UniProt]
xref: MedGen:C3151038
xref: MeSH:D017497
xref: MIM:613737 "phenotype"
[Term]
id: DI-02998
name: Cataract 16, multiple types
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT16 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens." []
synonym: "Congenital lamellar cataract" [UniProt]
synonym: "CTPP2" [UniProt]
synonym: "Posterior polar cataract 2" [UniProt]
xref: MedGen:C3151065
xref: MedGen:C3552997
xref: MeSH:D002386
xref: MIM:613763 "phenotype"
[Term]
id: DI-02999
name: Macular degeneration, age-related, 5
def: "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane." []
xref: MedGen:C3151063
xref: MeSH:D008268
xref: MIM:613761 "phenotype"
[Term]
id: DI-03000
name: Muscular dystrophy, limb-girdle, autosomal recessive 17
def: "A form of limb-girdle muscular dystrophy characterized by early childhood onset of proximal muscle weakness. Limb-girdle muscular dystrophies are characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy." []
synonym: "LGMD2Q" [UniProt]
synonym: "Limb-girdle muscular dystrophy 2Q" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 2Q" [UniProt]
xref: MedGen:C3150989
xref: MeSH:D049288
xref: MIM:613723 "phenotype"
[Term]
id: DI-03001
name: Leukodystrophy, hypomyelinating, 3
def: "A severe autosomal recessive hypomyelinating leukodystrophy characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system." []
xref: MedGen:C1850053
xref: MeSH:D020279
xref: MIM:260600 "phenotype"
[Term]
id: DI-03002
name: Retinitis pigmentosa 49
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C3151059
xref: MeSH:D012174
xref: MIM:613756 "phenotype"
[Term]
id: DI-03003
name: Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations
def: "A condition with biological features of autoimmune lymphoproliferative syndrome such as high-circulating CD4(-)CD8(-)TCR-alpha-beta(+) T-cell counts, and elevated IL10 and FASL levels. Affected individuals suffer from recurrent, stereotypical episodes of fever, encephalopathy, and mild liver dysfunction sometimes accompanied by generalized seizures. The episodes can be triggered by varicella zoster virus (VZV), measles mumps rubella (MMR) attenuated vaccine, parainfluenza virus, and Epstein-Barr virus (EBV)." []
xref: MedGen:C3151062
xref: MeSH:D007160
xref: MIM:613759 "phenotype"
[Term]
id: DI-03004
name: Ophthalmoacromelic syndrome
def: "A rare disorder presenting with ocular anomalies, ranging from mild microphthalmia to true anophthalmia, and limb anomalies. Limb malformations include fused 4th and 5th metacarpals and short 5th finger in hands, and oligodactyly in foot (four toes). Most patients have bilateral anophthalmia/ microphthalmia, but unilateral abnormality is also noted. Other malformations are rare, but venous or vertebral anomaly was recognized each in single cases." []
synonym: "Anophthalmia-syndactyly" [UniProt]
synonym: "Microphthalmia with limb anomalies" [UniProt]
synonym: "MLA" [UniProt]
synonym: "Waardenburg anophthalmia syndrome" [UniProt]
xref: MedGen:C0599973
xref: MeSH:D008850
xref: MIM:206920 "phenotype"
[Term]
id: DI-03005
name: Macular degeneration, atrophic, X-linked
def: "An ocular disorder characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment. Some patients manifest extensive macular degeneration plus peripheral loss of retinal pigment epithelium and choriocapillaries. Full-field electroretinograms (ERGs) show normal cone and rod responses in some affected males despite advanced macular degeneration." []
xref: MedGen:C3151784
xref: MeSH:D008268
xref: MIM:300834 "phenotype"
[Term]
id: DI-03006
name: Peeling skin syndrome 1
def: "A genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non-inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels." []
synonym: "Deciduous skin" [UniProt]
synonym: "Keratolysis exfoliativa congenita" [UniProt]
synonym: "Peeling skin syndrome type B" [UniProt]
synonym: "Skin peeling familial continuous generalized" [UniProt]
xref: MedGen:C1849193
xref: MeSH:D003873
xref: MIM:270300 "phenotype"
[Term]
id: DI-03007
name: CK syndrome
def: "An X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus." []
xref: MedGen:C3151781
xref: MeSH:D038901
xref: MIM:300831 "phenotype"
[Term]
id: DI-03008
name: 46,XX sex reversal 3
def: "A condition in which male gonads develop in a genetic female (female to male sex reversal)." []
synonym: "46,XX male sex reversal SOX3-related" [UniProt]
xref: MedGen:C3151782
xref: MedGen:C3151783
xref: MeSH:D058531
xref: MIM:300833 "phenotype"
[Term]
id: DI-03009
name: Proteasome-associated autoinflammatory syndrome 1
def: "An autosomal recessive autoinflammatory disorder characterized by early childhood onset of recurrent fever, joint stiffness and severe contractures of the hands and feet, and erythematous skin lesions with subsequent development of lipodystrophy and laboratory evidence of immune dysregulation. Accompanying features may include muscle weakness and atrophy, hepatosplenomegaly, and microcytic anemia." []
synonym: "Autoinflammation, lipodystrophy, and dermatosis syndrome" [UniProt]
synonym: "CANDLE" [UniProt]
synonym: "Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome" [UniProt]
synonym: "JMP syndrome" [UniProt]
synonym: "Joint contractures muscular atrophy microcytic anemia and panniculitis-induced lipodystrophy" [UniProt]
synonym: "Nakajo syndrome" [UniProt]
synonym: "Nakajo-Nishimura syndrome" [UniProt]
synonym: "NKJO" [UniProt]
synonym: "NNS" [UniProt]
synonym: "Nodular erythema with digital changes" [UniProt]
synonym: "Secondary hypertrophic osteoperiostosis with pernio" [UniProt]
xref: MedGen:C1850568
xref: MedGen:C3278560
xref: MeSH:D007249
xref: MeSH:D008060
xref: MIM:256040 "phenotype"
[Term]
id: DI-03010
name: Fazio-Londe disease
def: "A rare neurological disease characterized by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. It may present in childhood with severe neurological deterioration with hypotonia, respiratory insufficiency leading to premature death, or later in life with bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles." []
synonym: "Bulbar palsy progressive of childhood" [UniProt]
synonym: "Fazio-Londe syndrome" [UniProt]
xref: MedGen:C0015708
xref: MedGen:C0393540
xref: MeSH:D010244
xref: MIM:211500 "phenotype"
[Term]
id: DI-03011
name: Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type
def: "A disease characterized by recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy." []
synonym: "Bilateral striatal degeneration and progressive polyneuropathy" [UniProt]
synonym: "Striatal necrosis, bilateral and progressive polyneuropathy" [UniProt]
xref: MedGen:C3150973
xref: MeSH:D001480
xref: MIM:613710 "phenotype"
[Term]
id: DI-03012
name: Occult macular dystrophy
def: "An inherited macular dystrophy characterized by progressive loss of macular function but normal ophthalmoscopic appearance. It is typically characterized by a central cone dysfunction leading to a loss of vision despite normal ophthalmoscopic appearance, normal fluorescein angiography, and normal full-field electroretinogram (ERGs), but the amplitudes of the focal macular ERGs and multifocal ERGs are significantly reduced at the central retina." []
synonym: "OMD" [UniProt]
xref: MedGen:C3150833
xref: MeSH:D008268
xref: MIM:613587 "phenotype"
[Term]
id: DI-03013
name: Hyperchlorhidrosis, isolated
def: "An autosomal recessive disorder characterized by excessive sweating and increased sweat chloride levels. Affected individuals suffer from episodes of hyponatremic dehydration and report increased amounts of visible salt precipitates in sweat." []
xref: MedGen:C1840437
xref: MeSH:D006945
xref: MIM:143860 "phenotype"
[Term]
id: DI-03014
name: Hypobetalipoproteinemia, familial, 2
def: "A disorder of lipid metabolism characterized by less than 5th percentile age- and sex-specific levels of low density lipoproteins, and dietary fat malabsorption. Affected individuals present with combined hypolipidemia, consisting of extremely low plasma levels of LDL cholesterol, HDL cholesterol, and triglycerides." []
synonym: "Combined hypobetalipoproteinemia familial" [UniProt]
xref: MedGen:C1857970
xref: MeSH:D006995
xref: MIM:605019 "phenotype"
[Term]
id: DI-03015
name: Posterior column ataxia with retinitis pigmentosa
def: "A neurodegenerative syndrome beginning in infancy with areflexia and retinitis pigmentosa. Nyctalopia (night blindness) and peripheral visual field loss are usually evident during late childhood or teenage years, with subsequent progressive constriction of the visual fields and loss of central retinal function over time. A sensory ataxia caused by degeneration of the posterior columns of the spinal cord results in a loss of proprioceptive sensation that is clinically evident in the second decade of life and gradually progresses. Scoliosis, camptodactyly, achalasia, gastrointestinal dysmotility, and a sensory peripheral neuropathy are variable features of the disease. Affected individuals have no clinical or radiological evidence of cerebral or cerebellar involvement." []
synonym: "AXPC1" [UniProt]
xref: MedGen:C1836916
xref: MeSH:D001259
xref: MeSH:D012174
xref: MIM:609033 "phenotype"
[Term]
id: DI-03016
name: Calcification of joints and arteries
def: "A condition characterized by adult-onset calcification of the lower extremity arteries, including the iliac, femoral and tibial arteries, and hand and foot capsule joints. Age of onset has been reported as early as the second decade of life, usually involving intense joint pain or calcification in the hands." []
xref: MedGen:C1859372
xref: MeSH:D002114
xref: MIM:211800 "phenotype"
[Term]
id: DI-03017
name: Scott syndrome
def: "A mild bleeding disorder due to impaired surface exposure of procoagulant phosphatidylserine (PS) on platelets and other blood cells, following activation with Ca(2+)-elevating agents." []
synonym: "BDPLT7" [UniProt]
synonym: "Bleeding abnormality due to deficiency of platelet binding of factor X" [UniProt]
synonym: "Bleeding disorder platelet-type 7" [UniProt]
synonym: "Prothrombin consumption deficiency" [UniProt]
synonym: "Prothrombin consumption inhibitor familial" [UniProt]
synonym: "Prothrombin conversion defect familial" [UniProt]
xref: MedGen:C0796149
xref: MeSH:D006470
xref: MIM:262890 "phenotype"
[Term]
id: DI-03018
name: Short-rib thoracic dysplasia 6 with or without polydactyly
def: "A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome." []
synonym: "Majewski syndrome" [UniProt]
synonym: "Polydactyly with neonatal chondrodystrophy type II" [UniProt]
synonym: "Short rib-polydactyly syndrome 2A" [UniProt]
synonym: "Short rib-polydactyly syndrome type II" [UniProt]
synonym: "Short rib-polydactyly syndrome type IIA" [UniProt]
synonym: "SRPS type II" [UniProt]
synonym: "SRPS2A" [UniProt]
xref: MedGen:C0024507
xref: MeSH:D012779
xref: MIM:263520 "phenotype"
[Term]
id: DI-03019
name: Growth hormone deficiency, isolated, 1B
def: "An autosomal recessive deficiency of growth hormone leading to short stature. Patients have low but detectable levels of growth hormone, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy." []
synonym: "IGHD IB" [UniProt]
synonym: "Isolated growth hormone deficiency type IB" [UniProt]
synonym: "Pituitary dwarfism I" [UniProt]
xref: MedGen:C2748571
xref: MeSH:D004393
xref: MIM:612781 "phenotype"
[Term]
id: DI-03020
name: Mitochondrial DNA depletion syndrome 6
def: "A disease due to mitochondrial dysfunction. It is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, peripheral neuropathy, corneal scarring, acral ulceration and osteomyelitis leading to autoamputation, cerebral leukoencephalopathy, failure to thrive, and recurrent metabolic acidosis with intercurrent infections." []
synonym: "Mitochondrial DNA depletion 6 hepatocerebral type" [UniProt]
synonym: "Navajo familial neurogenic arthropathy" [UniProt]
synonym: "Navajo neurohepatopathy" [UniProt]
synonym: "Navajo neuropathy" [UniProt]
synonym: "NN" [UniProt]
synonym: "NNH" [UniProt]
xref: MedGen:C1850406
xref: MedGen:C1850407
xref: MeSH:D017237
xref: MIM:256810 "phenotype"
[Term]
id: DI-03021
name: Hemorrhagic destruction of the brain with subependymal calcification and cataracts
def: "A syndrome characterized by congenital cataracts and severe brain abnormalities apparently resulting from hemorrhagic destruction of the brain parenchyma, including the cerebral white matter and basal ganglia. Patients manifest profound developmental delay, and other neurologic features included seizures, spasticity, and hyperreflexia. The clinical course is very severe resulting in death in infancy. Brain imaging shows multifocal intraparenchymal hemorrhage with associated liquefaction and massive cystic degeneration, and calcification in the subependymal region and in brain tissue." []
xref: MedGen:C3151000
xref: MeSH:D001927
xref: MeSH:D002114
xref: MIM:613730 "phenotype"
[Term]
id: DI-03022
name: Adrenal insufficiency, congenital, with 46,XY sex reversal
def: "A rare disorder that can present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are elevated and adrenal steroids are inappropriately low or absent; the 46,XY patients have female external genitalia, sometimes with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure. Patients with congenital adrenal insufficiency do not manifest the massive adrenal enlargement typical of congenital lipoid adrenal hyperplasia." []
synonym: "Adrenal insufficiency congenital with 46,XY sex reversal partial or complete" [UniProt]
synonym: "P450scc deficiency" [UniProt]
xref: MedGen:C3151055
xref: MeSH:D047808
xref: MIM:613743 "phenotype"
[Term]
id: DI-03023
name: Choanal atresia and lymphedema
def: "A disease characterized by posterior choanal atresia and lymphedema. Additional features are a high-arched palate, hypoplastic nipples, and mild pectus excavatum." []
xref: MedGen:C3150875
xref: MeSH:D002754
xref: MeSH:D008209
xref: MIM:613611 "phenotype"
[Term]
id: DI-03024
name: Ciliary dyskinesia, primary, 14
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome." []
synonym: "ICS14" [UniProt]
synonym: "Immotile cilia syndrome 14" [UniProt]
synonym: "Primary ciliary dyskinesia 14 with or without situs inversus" [UniProt]
xref: MedGen:C3151136
xref: MeSH:D007619
xref: MIM:613807 "phenotype"
[Term]
id: DI-03025
name: Ciliary dyskinesia, primary, 15
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome." []
synonym: "ICS15" [UniProt]
synonym: "Immotile cilia syndrome 15" [UniProt]
synonym: "Primary ciliary dyskinesia 15 with or without situs inversus" [UniProt]
xref: MedGen:C3151137
xref: MeSH:D007619
xref: MIM:613808 "phenotype"
[Term]
id: DI-03026
name: Meckel syndrome 8
def: "A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly." []
xref: MedGen:CN077711
xref: MeSH:D002925
xref: MeSH:D004677
xref: MeSH:D007690
xref: MIM:613885 "phenotype"
[Term]
id: DI-03027
name: Erythrocytosis, familial, 8
def: "An autosomal recessive disorder characterized by elevated serum hemoglobin and hematocrit, and biphosphoglycerate mutase deficiency. ECYT8 affected individuals manifest hemolytic anemia and splenomegaly." []
synonym: "Bisphosphoglycerate mutase deficiency" [UniProt]
synonym: "Bisphosphoglyceromutase deficiency" [UniProt]
synonym: "BPGM deficiency" [UniProt]
synonym: "Diphosphoglycerate mutase deficiency of erythrocyte" [UniProt]
synonym: "DPGM deficiency" [UniProt]
synonym: "Erythrocytosis due to bisphosphoglycerate mutase deficiency" [UniProt]
xref: MedGen:C1291620
xref: MeSH:D000743
xref: MIM:222800 "phenotype"
[Term]
id: DI-03028
name: Factor X deficiency
def: "A hemorrhagic disease with variable presentation. Affected individuals can manifest prolonged nasal and mucosal hemorrhage, menorrhagia, hematuria, and occasionally hemarthrosis. Some patients do not have clinical bleeding diathesis." []
synonym: "F10 deficiency" [UniProt]
synonym: "Factor 10 deficiency" [UniProt]
synonym: "Stuart-Prower factor deficiency" [UniProt]
xref: MedGen:C0015519
xref: MeSH:D005171
xref: MIM:227600 "phenotype"
[Term]
id: DI-03029
name: Deafness, autosomal recessive, 42
def: "A prelingual, non-progressive form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Congenital neurosensory deafness autosomal recessive 42" [UniProt]
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 42" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal recessive type 42" [UniProt]
xref: MedGen:C1864818
xref: MeSH:D006319
xref: MIM:609646 "phenotype"
[Term]
id: DI-03030
name: Retinitis pigmentosa 38
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C3151228
xref: MeSH:D012174
xref: MIM:613862 "phenotype"
[Term]
id: DI-03031
name: Retinitis pigmentosa 40
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C3151107
xref: MeSH:D012174
xref: MIM:613801 "phenotype"
[Term]
id: DI-03032
name: Retinitis pigmentosa 43
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C3151139
xref: MeSH:D012174
xref: MIM:613810 "phenotype"
[Term]
id: DI-03033
name: Retinitis pigmentosa 44
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C3151068
xref: MeSH:D012174
xref: MIM:613769 "phenotype"
[Term]
id: DI-03034
name: Retinitis pigmentosa 47
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C3151061
xref: MeSH:D012174
xref: MIM:613758 "phenotype"
[Term]
id: DI-03035
name: Retinitis pigmentosa 48
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C3151190
xref: MeSH:D012174
xref: MIM:613827 "phenotype"
[Term]
id: DI-03036
name: Retinitis pigmentosa 59
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C3151227
xref: MeSH:D012174
xref: MIM:613861 "phenotype"
[Term]
id: DI-03037
name: Cardiomyopathy, familial hypertrophic, 16
def: "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death." []
xref: MedGen:C3151204
xref: MeSH:D024741
xref: MIM:613838 "phenotype"
[Term]
id: DI-03038
name: Cardiomyopathy, familial hypertrophic, 17
def: "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death." []
xref: MedGen:C3151264
xref: MeSH:D024741
xref: MIM:613873 "phenotype"
[Term]
id: DI-03039
name: Cardiomyopathy, familial hypertrophic, 18
def: "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death." []
xref: MedGen:C3151265
xref: MeSH:D024741
xref: MIM:613874 "phenotype"
[Term]
id: DI-03041
name: Cardiomyopathy, familial hypertrophic, 20
def: "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death." []
xref: MedGen:C3151267
xref: MeSH:D024741
xref: MIM:613876 "phenotype"
[Term]
id: DI-03042
name: Cardiomyopathy, dilated, 1HH
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C3151293
xref: MeSH:D002311
xref: MIM:613881 "phenotype"
[Term]
id: DI-03043
name: Meier-Gorlin syndrome 1
def: "A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal." []
synonym: "Ear patella short stature syndrome" [UniProt]
synonym: "EPS" [UniProt]
synonym: "Microtia absent patellae micrognathia syndrome" [UniProt]
xref: MedGen:C1868684
xref: MeSH:D006130
xref: MeSH:D008844
xref: MIM:224690 "phenotype"
[Term]
id: DI-03044
name: Meier-Gorlin syndrome 2
def: "A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal." []
xref: MedGen:C3151097
xref: MeSH:D006130
xref: MeSH:D008844
xref: MIM:613800 "phenotype"
[Term]
id: DI-03045
name: Meier-Gorlin syndrome 3
def: "A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal." []
xref: MedGen:C3151113
xref: MeSH:D006130
xref: MeSH:D008844
xref: MIM:613803 "phenotype"
[Term]
id: DI-03046
name: Meier-Gorlin syndrome 4
def: "A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal." []
xref: MedGen:C3151120
xref: MeSH:D006130
xref: MeSH:D008844
xref: MIM:613804 "phenotype"
[Term]
id: DI-03047
name: Meier-Gorlin syndrome 5
def: "A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal." []
xref: MedGen:C3151126
xref: MeSH:D006130
xref: MeSH:D008844
xref: MIM:613805 "phenotype"
[Term]
id: DI-03048
name: Leber congenital amaurosis 11
def: "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus." []
xref: MedGen:C1840284
xref: MeSH:D057130
xref: MIM:613837 "phenotype"
[Term]
id: DI-03049
name: Leber congenital amaurosis 15
def: "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus." []
xref: MedGen:C3151206
xref: MeSH:D057130
xref: MIM:613843 "phenotype"
[Term]
id: DI-03050
name: Nephronophthisis 9
def: "An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts." []
xref: MedGen:C3151188
xref: MeSH:D052177
xref: MIM:613824 "phenotype"
[Term]
id: DI-03051
name: Nephronophthisis 12
def: "An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Some patients manifest extra-renal features including retinal, skeletal and central nervous system defects." []
xref: MedGen:C3151186
xref: MeSH:D052177
xref: MIM:613820 "phenotype"
[Term]
id: DI-03052
name: 46,XY sex reversal 6
def: "A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females." []
synonym: "46,XY gonadal dysgenesis partial or complete MAP3K1-related" [UniProt]
synonym: "46,XY sex reversal partial or complete MAP3K1-related" [UniProt]
xref: MedGen:C3151064
xref: MeSH:D006061
xref: MIM:613762 "phenotype"
[Term]
id: DI-03053
name: 46,XX sex reversal 2
def: "A condition in which male gonads develop in a genetic female (female to male sex reversal)." []
synonym: "46,XX sex reversal partial or complete SOX9-related" [UniProt]
xref: MedGen:C2749215
xref: MeSH:D058531
xref: MIM:278850 "phenotype"
[Term]
id: DI-03054
name: Spinocerebellar ataxia 35
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA35 patients commonly show upper limb involvement and torticollis. There is no cognitive impairment." []
xref: MedGen:CN077707
xref: MeSH:D020754
xref: MIM:613908 "phenotype"
[Term]
id: DI-03055
name: Anemia without thrombocytopenia, X-linked
def: "A form of anemia characterized by abnormal morphology of erythrocytes and granulocytes in peripheral blood, bone marrow dysplasia with hypocellularity of erythroid and granulocytic lineages, and normal or increased number of megakaryocytes. Neutropenia of a variable degree is present in affected individuals." []
synonym: "Anemia X-linked with variable neutropenia" [UniProt]
xref: MedGen:C3151785
xref: MedGen:C3550856
xref: MeSH:D000740
xref: MIM:300835 "phenotype"
[Term]
id: DI-03056
name: Neuropathy, hereditary sensory, 1D
def: "A disease characterized by adult-onset distal axonal sensory neuropathy leading to mutilating ulcerations as well as hyporeflexia. Some patients may show features suggesting upper neuron involvement." []
synonym: "Hereditary sensory neuropathy type ID" [UniProt]
xref: MedGen:C3150972
xref: MeSH:D009477
xref: MIM:613708 "phenotype"
[Term]
id: DI-03057
name: Van den Ende-Gupta syndrome
def: "A syndrome characterized by craniofacial and skeletal abnormalities that include blepharophimosis, a flat and wide nasal bridge, narrow and beaked nose, hypoplastic maxilla with or without cleft palate and everted lower lip, prominent ears, down-slanting eyes, arachnodactyly, and camptodactyly. Patients present congenital joint contractures that improve without intervention, and normal growth and development. Intelligence is normal. Rarely, enlarged cerebella can be present. Some patients experience respiratory problems due to laryngeal abnormalities." []
synonym: "Blepharophimosis arachnodactyly and congenital contractures" [UniProt]
synonym: "Marden-Walker-like syndrome without psychomotor retardation" [UniProt]
xref: MedGen:C1833136
xref: MeSH:D003286
xref: MeSH:D016569
xref: MeSH:D054119
xref: MIM:600920 "phenotype"
[Term]
id: DI-03058
name: Fanconi anemia complementation group F
def: "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair." []
xref: MedGen:CN068975
xref: MeSH:D005199
xref: MIM:603467 "phenotype"
[Term]
id: DI-03059
name: Moyamoya disease 2
def: "A progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults." []
xref: MedGen:C1846689
xref: MeSH:D009072
xref: MIM:607151 "phenotype"
[Term]
id: DI-03060
name: Seckel syndrome 5
def: "A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability." []
xref: MedGen:C3151187
xref: MeSH:D004392
xref: MeSH:D008831
xref: MIM:613823 "phenotype"
[Term]
id: DI-03061
name: Spastic paraplegia 51, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG51 is a non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest motor and posture impairments often associated with epilepsy and disturbances of cognition, behavior, sensation, and communication." []
synonym: "Cerebral palsy, spastic quadriplegic 4" [UniProt]
synonym: "CPSQ4" [UniProt]
xref: MedGen:C3151056
xref: MeSH:D002547
xref: MeSH:D015419
xref: MIM:613744 "phenotype"
[Term]
id: DI-03062
name: Aortic aneurysm, familial thoracic 7
def: "A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance." []
synonym: "Aortic dissection familial with or without aortic aneurysm" [UniProt]
xref: MedGen:C3151077
xref: MeSH:D017545
xref: MIM:613780 "phenotype"
[Term]
id: DI-03063
name: Macular degeneration, age-related, 12
def: "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane." []
xref: MedGen:C3151079
xref: MeSH:D008268
xref: MIM:613784 "phenotype"
[Term]
id: DI-03064
name: Loeys-Dietz syndrome 3
def: "An aortic aneurysm syndrome with widespread systemic involvement. The disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Patients with LDS3 also manifest early-onset osteoarthritis. They lack craniosynostosis and intellectual disability." []
synonym: "Aneurysms-osteoarthritis syndrome" [UniProt]
synonym: "AOS" [UniProt]
synonym: "LDS1C" [UniProt]
synonym: "Loeys-Dietz syndrome 1C" [UniProt]
synonym: "Loeys-Dietz syndrome with osteoarthritis" [UniProt]
xref: MedGen:C3151087
xref: MeSH:D055947
xref: MIM:613795 "phenotype"
[Term]
id: DI-03066
name: Pontocerebellar hypoplasia 2D
def: "A disorder characterized by postnatal onset of progressive atrophy of the cerebrum and cerebellum, microcephaly, profound intellectual disability, spasticity, and variable seizures." []
synonym: "PCCA" [UniProt]
synonym: "Progressive cerebello-cerebral atrophy" [UniProt]
synonym: "Progressive cerebellocerebral atrophy" [UniProt]
xref: MedGen:C3151140
xref: MeSH:D002526
xref: MIM:613811 "phenotype"
[Term]
id: DI-03067
name: Short-rib thoracic dysplasia 4 with or without polydactyly
def: "A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome." []
synonym: "Asphyxiating thoracic dystrophy 4" [UniProt]
synonym: "ATD4" [UniProt]
synonym: "JATD" [UniProt]
synonym: "Jeune asphyxiating thoracic dystrophy" [UniProt]
synonym: "Jeune syndrome 4" [UniProt]
xref: MedGen:C3151185
xref: MeSH:D012779
xref: MIM:613819 "phenotype"
[Term]
id: DI-03068
name: Osteogenesis imperfecta 10
def: "A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI10 is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclerae." []
synonym: "OI type X" [UniProt]
synonym: "OI-X" [UniProt]
synonym: "Osteogenesis imperfecta type X" [UniProt]
xref: MedGen:C3151211
xref: MeSH:D010013
xref: MIM:613848 "phenotype"
[Term]
id: DI-03069
name: Osteogenesis imperfecta 11
def: "A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI11 is an autosomal recessive form." []
synonym: "OI type XI" [UniProt]
synonym: "OI-XI" [UniProt]
synonym: "Osteogenesis imperfecta type XI" [UniProt]
xref: MeSH:D010013
xref: MIM:610968 "phenotype"
[Term]
id: DI-03070
name: Cataract 36
def: "An opacification of the crystalline lens of the eye becoming evident at birth. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function." []
synonym: "Autosomal recessive congenital cataract 4" [UniProt]
synonym: "CATC4" [UniProt]
xref: MedGen:C3151304
xref: MeSH:D002386
xref: MIM:613887 "phenotype"
[Term]
id: DI-03071
name: Hypomagnesemia 6
def: "A renal disease characterized by severely lowered serum magnesium levels in the absence of other electrolyte disturbances. Affected individuals show an inappropriately normal urinary magnesium excretion, demonstrating a defect in tubular reabsorption. Age of clinical onset is highly variable and some affected individuals are asymptomatic." []
xref: MedGen:C3151295
xref: MeSH:D015499
xref: MIM:613882 "phenotype"
[Term]
id: DI-03072
name: Lipodystrophy, familial partial, 4
def: "A form of lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension." []
synonym: "Familial partial lipodystrophy associated with PLIN1 mutations" [UniProt]
xref: MedGen:C3151268
xref: MeSH:D052496
xref: MIM:613877 "phenotype"
[Term]
id: DI-03073
name: Episodic ataxia 5
def: "A disorder characterized by episodes of vertigo and ataxia that last for several hours. Interictal examination show spontaneous downbeat and gaze-evoked nystagmus, mild dysarthria and truncal ataxia." []
synonym: "EA-5" [UniProt]
xref: MedGen:C1866039
xref: MeSH:D001259
xref: MIM:613855 "phenotype"
[Term]
id: DI-03074
name: Muscular dystrophy-dystroglycanopathy limb-girdle C9
def: "An autosomal recessive muscular dystrophy showing onset in early childhood, and associated with intellectual disability without structural brain anomalies." []
synonym: "LGMD2P" [UniProt]
synonym: "LGMDR16" [UniProt]
synonym: "Muscular dystrophy limb-girdle type 2P" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, autosomal recessive 16" [UniProt]
synonym: "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9" [UniProt]
synonym: "Muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related" [UniProt]
xref: MedGen:C3151184
xref: MeSH:D049288
xref: MIM:613818 "phenotype"
[Term]
id: DI-03075
name: Goiter multinodular 1, with or without Sertoli-Leydig cell tumors
def: "A common disorder characterized by nodular overgrowth of the thyroid gland. Some individuals may also develop Sertoli-Leydig cell tumors, usually of the ovary." []
synonym: "Euthyroid goiter" [UniProt]
synonym: "Goiter non-toxic with intrathyroidal calcification" [UniProt]
synonym: "Goiter nontoxic with intrathyroidal calcification" [UniProt]
synonym: "Multinodular goiter adolescent" [UniProt]
synonym: "Simple goiter" [UniProt]
xref: MedGen:C0018022
xref: MedGen:C0302859
xref: MedGen:C3165522
xref: MeSH:D006044
xref: MIM:138800 "phenotype"
[Term]
id: DI-03076
name: Leukemia, acute lymphoblastic
def: "A subtype of acute leukemia, a cancer of the white blood cells. ALL is a malignant disease of bone marrow and the most common malignancy diagnosed in children. The malignant cells are lymphoid precursor cells (lymphoblasts) that are arrested in an early stage of development. The lymphoblasts replace the normal marrow elements, resulting in a marked decrease in the production of normal blood cells. Consequently, anemia, thrombocytopenia, and neutropenia occur to varying degrees. The lymphoblasts also proliferate in organs other than the marrow, particularly the liver, spleen, and lymphnodes." []
synonym: "ALL1" [UniProt]
synonym: "Childhood acute lymphoblastic leukemia" [UniProt]
synonym: "Leukemia acute lymphoblastic 1" [UniProt]
synonym: "Leukemia acute lymphoblastic B-hyperdiploid" [UniProt]
synonym: "Leukemia acute lymphocytic" [UniProt]
synonym: "Leukemia acute lymphocytic 1" [UniProt]
synonym: "Leukemia B-cell acute lymphoblastic" [UniProt]
synonym: "Leukemia T-cell acute lymphoblastic" [UniProt]
xref: MedGen:C1961102
xref: MedGen:C2751594
xref: MedGen:C2751595
xref: MedGen:C2751596
xref: MedGen:C2751597
xref: MedGen:C2751598
xref: MeSH:D054198
xref: MIM:613065 "phenotype"
[Term]
id: DI-03077
name: Night blindness, congenital stationary, 1D
def: "An autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision. CSNB1D is characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves). Patients have visual acuity within the normal range and no symptoms of myopia and/or nystagmus." []
synonym: "Complete autosomal recessive CSNB" [UniProt]
xref: MedGen:C3151193
xref: MeSH:D009755
xref: MIM:613830 "phenotype"
[Term]
id: DI-03078
name: Spinocerebellar ataxia 20
def: "Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA20 is an autosomal dominant, adult-onset form characterized by dysarthria due to spasmodic dysphonia followed by slowly progressive ataxia." []
synonym: "Chromosome 11q12 duplication syndrome 260-KB" [UniProt]
synonym: "Spinocerebellar ataxia with dysphonia" [UniProt]
synonym: "Spinocerebellar ataxia with spasmodic cough" [UniProt]
xref: MedGen:C1837541
xref: MeSH:D020754
xref: MIM:608687 "phenotype"
[Term]
id: DI-03079
name: Focal facial dermal dysplasia 3, Setleis type
def: "A form of focal facial dermal dysplasia, a group of developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFDD3 is characterized by distinctive bitemporal scar-like depressions resembling forceps marks, and additional facial features, including a coarse and leonine appearance, absent eyelashes on both lids or multiple rows on the upper lids, absent Meibomian glands, slanted eyebrows, chin clefting, and hypo- or hyperpigmentation of the skin. Histologically, the bitemporal lesion is an ectodermal dysplasia with near absence of subcutaneous fat, suggesting insufficient migration of neural crest cells into the frontonasal process and the first branchial arch." []
synonym: "Bitemporal forceps marks syndrome" [UniProt]
synonym: "Facial ectodermal dysplasia" [UniProt]
synonym: "FFDD type II" [UniProt]
synonym: "FFDD type III" [UniProt]
synonym: "Focal facial dermal dysplasia type II" [UniProt]
synonym: "Focal facial dermal dysplasia type III" [UniProt]
synonym: "Setleis syndrome" [UniProt]
xref: MedGen:C1744559
xref: MeSH:D004476
xref: MIM:227260 "phenotype"
[Term]
id: DI-03080
name: Inflammatory bowel disease 19
def: "A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints." []
synonym: "Inflammatory bowel disease (Crohn disease) 19" [UniProt]
xref: MedGen:C2677079
xref: MeSH:D015212
xref: MIM:612278 "phenotype"
[Term]
id: DI-03082
name: Congenital heart defects, multiple types, 6
def: "An autosomal dominant disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include tetralogy of Fallot, transposition of the great arteries, double-outlet right ventricle, total anomalous pulmonary venous return, pulmonary stenosis or atresia, atrioventricular canal, ventricular septal defect, and hypoplastic left or right ventricle." []
synonym: "DTGA3" [UniProt]
synonym: "Transposition of the great arteries, dextro-looped 3" [UniProt]
xref: MedGen:C3151221
xref: MeSH:D006330
xref: MIM:613854 "phenotype"
[Term]
id: DI-03083
name: Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related
def: "A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFMFIH-CRYAB has onset in the first weeks of life after a normal neonatal period. Affected infants show rapidly progressive muscular rigidity of the trunk and limbs associated with increasing respiratory difficulty resulting in death before age 3 years." []
synonym: "MFM fatal infantile hypertonic alpha-B crystallin-related" [UniProt]
xref: MedGen:C3151236
xref: MeSH:D020914
xref: MIM:613869 "phenotype"
[Term]
id: DI-03084
name: Myasthenic syndrome, congenital, 12
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS12 is characterized by onset of proximal muscle weakness in the first decade. Individuals with this condition have a recognizable pattern of weakness of shoulder and pelvic girdle muscles, and sparing of ocular or facial muscles. EMG classically shows a decremental response to repeated nerve stimulation, a sign of neuromuscular junction dysfunction. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors." []
synonym: "CMSTA1" [UniProt]
synonym: "Limb-girdle myasthenia with tubular aggregates" [UniProt]
synonym: "Myasthenia, congenital, with tubular aggregates 1" [UniProt]
synonym: "Myasthenic syndrome, congenital, with tubular aggregates, 1" [UniProt]
xref: MedGen:C1864649
xref: MedGen:C3552335
xref: MeSH:D020294
xref: MIM:610542 "phenotype"
[Term]
id: DI-03085
name: Ichthyosis, congenital, autosomal recessive 8
def: "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs." []
synonym: "Lamellar ichthyosis 4" [UniProt]
synonym: "Late-onset lamellar ichthyosis" [UniProt]
synonym: "LI4" [UniProt]
xref: MedGen:C3151377
xref: MedGen:C3553029
xref: MeSH:D017490
xref: MIM:613943 "phenotype"
[Term]
id: DI-03086
name: Juvenile myoclonic epilepsy 5
def: "A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue." []
synonym: "Susceptibility to juvenile myoclonic epilepsy 5" [UniProt]
xref: MedGen:C2749942
xref: MeSH:D020190
xref: MIM:611136 "phenotype"
[Term]
id: DI-03087
name: Bardet-Biedl syndrome 13
def: "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease." []
xref: MedGen:C2673873
xref: MeSH:D020788
xref: MIM:615990 "phenotype"
[Term]
id: DI-03088
name: Retinal degeneration autosomal recessive clumped pigment type
def: "A retinopathy characterized by night blindness since early childhood, consistent with a severe reduction in rod function. Color vision is normal although there is a relatively enhanced function of short- wavelength-sensitive cones in the macula. Signs of retinal degeneration and clusters of clumped pigment deposits in the peripheral fundus at the level of the retinal pigment epithelium are present." []
synonym: "Clumped pigmentary retinal degeneration" [UniProt]
xref: MedGen:C1834330
xref: MeSH:D012162
xref: MIM:613750 "phenotype"
[Term]
id: DI-03089
name: Carnitine palmitoyltransferase 2 deficiency, infantile
def: "An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by hepatic or hepato-cardio-muscular manifestations with onset in infancy. Clinical features include hypoketotic hypoglycemia, lethargy, seizures, hepatomegaly, liver dysfunction, cardiomegaly and dilated cardiomyopathy." []
synonym: "Carnitine palmitoyltransferase II deficiency with hypoketotic hypoglycemia" [UniProt]
synonym: "Carnitine palmitoyltransferase II deficiency, hepatocardiomuscular" [UniProt]
synonym: "CPT II deficiency, hepatic" [UniProt]
synonym: "CPT2 deficiency, infantile" [UniProt]
xref: MedGen:C1833511
xref: MeSH:D008661
xref: MIM:600649 "phenotype"
[Term]
id: DI-03090
name: Epidermolysis bullosa dystrophica, autosomal recessive
def: "A group of autosomal recessive blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized, ranging from severe mutilating forms, such as epidermolysis bullosa dystrophica Hallopeau-Siemens type, to mild forms with limited localized scarring and less frequent extracutaneous manifestations. Mild forms include epidermolysis bullosa mitis and epidermolysis bullosa localisata." []
synonym: "Autosomal recessive dystrophic epidermolysis bullosa" [UniProt]
synonym: "EBR1" [UniProt]
synonym: "Epidermolysis bullosa dystrophica, generalized severe, autosomal recessive" [UniProt]
synonym: "Epidermolysis bullosa dystrophica, Hallopeau-Siemens type" [UniProt]
xref: MedGen:C0079474
xref: MedGen:C2673611
xref: MedGen:C2673612
xref: MeSH:D016108
xref: MIM:226600 "phenotype"
[Term]
id: DI-03091
name: Immunodeficiency 34
def: "A form of Mendelian susceptibility to mycobacterial disease, a rare condition characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette- Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals." []
synonym: "AMCBX2" [UniProt]
synonym: "Familial disseminated atypical mycobacterial infection X-linked 2" [UniProt]
synonym: "Familial, X-linked, atypical mycobacteriosis 2" [UniProt]
synonym: "Mendelian susceptibility to mycobacterial disease X-linked 2" [UniProt]
synonym: "X-linked immunodeficiency 34, mycobacteriosis" [UniProt]
xref: MedGen:C1970859
xref: MeSH:D007153
xref: MIM:300645 "phenotype"
[Term]
id: DI-03092
name: Gaucher disease
def: "An autosomal recessive lysosomal storage disease due to deficient activity of lysosomal beta-glucocerebrosidase, and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. GD is a multisystem disease historically divided into three main subtypes on the basis of the presence of neurologic involvement, age at onset and progression rate: type 1 is the non-neuropathic form, type 2 is the acute neuropathic form with early onset and rapid neurologic deterioration, type 3 is the chronic neuropathic form with slow progression of neurologic features. GD shows a marked phenotypic diversity ranging from adult asymptomatic forms, at the mild end, to perinatal lethal forms at the severe end of the disease spectrum. Formal diagnosis of Gaucher disease is based on the measurement of glucocerebrosidase levels in circulating leukocytes and molecular genetic analysis." []
synonym: "Acid beta-glucosidase deficiency" [UniProt]
synonym: "GBA deficiency" [UniProt]
synonym: "Glucocerebrosidase deficiency" [UniProt]
xref: MedGen:C0017205
xref: MeSH:D005776
xref: MIM:230800 "phenotype"
[Term]
id: DI-03093
name: Thanatophoric dysplasia 2
def: "A neonatal lethal skeletal dysplasia causing severe shortening of the limbs, narrow thorax and short ribs. Patients with thanatophoric dysplasia type 2 have straight femurs and cloverleaf skull." []
synonym: "Cloverleaf skull with thanatophoric dwarfism" [UniProt]
synonym: "Thanatophoric dysplasia type II" [UniProt]
synonym: "Thanatophoric dysplasia with kleeblattschaedel" [UniProt]
synonym: "Thanatophoric dysplasia with straight femurs and cloverleaf skull" [UniProt]
xref: MedGen:C1300257
xref: MeSH:D013796
xref: MIM:187601 "phenotype"
[Term]
id: DI-03095
name: Preaxial polydactyly 2
def: "Polydactyly consists of duplication of the distal phalanx. The thumb in PPD2 is usually opposable and possesses a normal metacarpal." []
xref: MedGen:C1868114
xref: MIM:174500 "phenotype"
[Term]
id: DI-03096
name: Parkinson-dementia syndrome
def: "A syndrome characterized by parkinsonism, tremor, rigidity, dementia, ophthalmoparesis and pyramidal signs. Neurofibrillary degeneration occurs in the hippocampus, basal ganglia and brainstem nuclei." []
synonym: "Steele-Richardson-Olszewski syndrome atypical" [UniProt]
synonym: "Supranuclear palsy progressive 1 atypical" [UniProt]
xref: MedGen:C1850076
xref: MedGen:C1850077
xref: MedGen:C3151582
xref: MeSH:D013494
xref: MIM:260540 "phenotype"
[Term]
id: DI-03097
name: Thyroid hormone resistance, generalized, autosomal recessive
def: "An autosomal recessive disorder characterized by goiter, clinical euthyroidism, end-organ unresponsiveness to thyroid hormone, abnormal growth and bone maturation, and deafness. Patients also have high levels of circulating thyroid hormones, with elevated thyroid stimulating hormone." []
synonym: "GTHR" [UniProt]
synonym: "Refetoff syndrome" [UniProt]
synonym: "Thyroid hormone unresponsiveness" [UniProt]
xref: MedGen:C3489796
xref: MeSH:D018382
xref: MIM:274300 "phenotype"
[Term]
id: DI-03098
name: Hypophosphatasia, childhood
def: "A bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase." []
xref: MedGen:C0220743
xref: MeSH:D007014
xref: MIM:241510 "phenotype"
[Term]
id: DI-03099
name: Hypophosphatasia, infantile
def: "A severe bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. Three more or less distinct types of infantile hypophosphatasia can be identified: (1) type 1 with onset in utero or in early postnatal life, craniostenosis, severe skeletal abnormalities, hypercalcemia, and death in the first year or so of life; (2) type 2 with later, more gradual development of symptoms, moderately severe 'rachitic' skeletal changes and premature loss of teeth; (3) type 3 with no symptoms, the condition being determined on routine studies." []
xref: MedGen:C0268412
xref: MedGen:C2673477
xref: MeSH:D007014
xref: MIM:241500 "phenotype"
[Term]
id: DI-03100
name: Polydactyly, postaxial B
def: "A condition characterized by an extra digit in the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type B the extra digit is not well formed and is frequently in the form of a skin." []
xref: MedGen:C1868120
xref: MeSH:D017689
xref: MIM:174200 "phenotype"
[Term]
id: DI-03101
name: Schizophrenia 15
def: "A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder." []
synonym: "Schizophrenia 15 with or without an affective disorder" [UniProt]
synonym: "Schizophrenia susceptibility locus chromosome 22q13-related" [UniProt]
xref: MedGen:C3151380
xref: MeSH:D012559
xref: MIM:613950 "phenotype"
[Term]
id: DI-03102
name: Amyloidosis, primary localized cutaneous, 2
def: "A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins." []
xref: MedGen:C3151404
xref: MeSH:D028226
xref: MIM:613955 "phenotype"
[Term]
id: DI-03103
name: Ficolin 3 deficiency
def: "A disorder characterized by immunodeficiency, recurrent infections, brain abscesses and recurrent warts on the fingers. Affected individuals have normal levels of lymphocytes, normal T-cell responses, and normal antibodies, but a selective deficient antibody response to pneumococcal polysaccharide vaccine." []
synonym: "Defect in lectin complement activation pathway, 3" [UniProt]
synonym: "FCN3 deficiency" [UniProt]
synonym: "Immunodeficiency due to ficolin 3 deficiency" [UniProt]
synonym: "LCAPD3" [UniProt]
xref: MedGen:C3151226
xref: MeSH:D007153
xref: MIM:613860 "phenotype"
[Term]
id: DI-03104
name: Immunodeficiency 51
def: "A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans." []
synonym: "CANDF5" [UniProt]
synonym: "Candidiasis familial 5 autosomal recessive" [UniProt]
synonym: "Candidiasis familial chronic mucocutaneous autosomal recessive" [UniProt]
synonym: "Candidiasis, familial, 5" [UniProt]
synonym: "Chronic mucocutaneous candidiasis 5" [UniProt]
xref: MedGen:C3151402
xref: MeSH:D002178
xref: MIM:613953 "phenotype"
[Term]
id: DI-03105
name: MASP2 deficiency
def: "A disorder that results in autoimmune manifestations, recurrent severe infections, and chronic inflammatory disease." []
synonym: "Defect in lectin complement activation pathway, 2" [UniProt]
synonym: "LCAPD2" [UniProt]
xref: MedGen:C3151085
xref: MeSH:D007154
xref: MIM:613791 "phenotype"
[Term]
id: DI-03106
name: Immunodeficiency 31B
def: "A disorder characterized by susceptibility to severe mycobacterial and viral infections. Affected individuals can develop disseminated infections and die of viral illness." []
synonym: "Autosomal recessive STAT1 deficiency" [UniProt]
synonym: "Autosomal recessive susceptibility to mycobacterial and viral infections" [UniProt]
synonym: "Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive" [UniProt]
synonym: "Mycobacterial and viral infections due to complete STAT1 deficiency" [UniProt]
xref: MedGen:C3151088
xref: MeSH:D007153
xref: MIM:613796 "phenotype"
[Term]
id: DI-03107
name: Bardet-Biedl syndrome
def: "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease." []
synonym: "Laurence-Moon-Bardet-Biedl Syndrome" [UniProt]
xref: MedGen:C0752166
xref: MeSH:D020788
xref: MIM:209900 "phenotype"
[Term]
id: DI-03108
name: Joubert syndrome 11
def: "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease." []
xref: MedGen:C3279203
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:613820 "phenotype"
[Term]
id: DI-03109
name: Smooth muscle dysfunction syndrome
def: "An autosomal dominant syndrome characterized by dysfunction of smooth muscle cells throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension." []
synonym: "MSMDS" [UniProt]
synonym: "Multisystemic smooth muscle dysfunction syndrome" [UniProt]
synonym: "Mydriasis congenital with patent ductus arteriosus thoracic aortic aneurysm and vasculopathy" [UniProt]
xref: MedGen:C3151201
xref: MeSH:D014652
xref: MeSH:D015878
xref: MIM:613834 "phenotype"
[Term]
id: DI-03110
name: Megaloblastic anemia due to dihydrofolate reductase deficiency
def: "An inborn error of metabolism, characterized by megaloblastic anemia and/or pancytopenia, severe cerebral folate deficiency, and cerebral tetrahydrobiopterin deficiency. Clinical features include variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy, to childhood absence epilepsy with learning difficulties, to lack of symptoms." []
synonym: "DHFR deficiency" [UniProt]
xref: MedGen:C3151205
xref: MeSH:D000749
xref: MeSH:D008661
xref: MIM:613839 "phenotype"
[Term]
id: DI-03111
name: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome
def: "A multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely." []
synonym: "HUPRA syndrome" [UniProt]
xref: MedGen:C3151209
xref: MeSH:D000471
xref: MeSH:D006976
xref: MeSH:D033461
xref: MeSH:D051437
xref: MIM:613845 "phenotype"
[Term]
id: DI-03112
name: Fanconi anemia complementation group C
def: "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair." []
synonym: "FA3" [UniProt]
synonym: "FAC" [UniProt]
synonym: "FACC" [UniProt]
synonym: "Fanconi pancytopenia type 3" [UniProt]
xref: MedGen:C3468041
xref: MeSH:D005199
xref: MIM:227645 "phenotype"
[Term]
id: DI-03113
name: Megalencephalic leukoencephalopathy with subcortical cysts 2A
def: "A neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. The brain appears swollen on magnetic resonance imaging with white-matter abnormalities and subcortical cysts, in all stages of the disease." []
xref: MedGen:C3151355
xref: MeSH:D056784
xref: MIM:613925 "phenotype"
[Term]
id: DI-03114
name: Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development
def: "A neurodegenerative disorder characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white-matter abnormalities on brain magnetic resonance imaging. The phenotype is milder that MLC2A, with better preserved cerebellar white matter and no subcortical cysts outside the temporal region. On follow-up, patients show normal or almost normal motor function. Some patients have normal intelligence, whereas others have a significant cognitive deficiency." []
synonym: "Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B" [UniProt]
xref: MedGen:C3151356
xref: MeSH:D056784
xref: MIM:613926 "phenotype"
[Term]
id: DI-03115
name: Hyperalphalipoproteinemia 2
def: "A condition characterized by high levels of high density lipoprotein (HDL) and increased HDL cholesterol levels." []
synonym: "Apolipoprotein C-III deficiency" [UniProt]
xref: MedGen:C3151467
xref: MeSH:D006951
xref: MIM:614028 "phenotype"
[Term]
id: DI-03116
name: Retinitis pigmentosa 60
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C3151434
xref: MeSH:D012174
xref: MIM:613983 "phenotype"
[Term]
id: DI-03117
name: Fanconi anemia complementation group E
def: "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair." []
xref: MedGen:C3160739
xref: MeSH:D005199
xref: MIM:600901 "phenotype"
[Term]
id: DI-03118
name: Fanconi anemia complementation group P
def: "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Some individuals affected by Fanconi anemia of complementation group P have skeletal anomalies." []
xref: MedGen:CN077628
xref: MeSH:D005199
xref: MIM:613951 "phenotype"
[Term]
id: DI-03119
name: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
def: "A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia (FTD) is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis (ALS) is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. FTDALS6 is an autosomal dominant form characterized by onset of ALS or FTD in adulthood. Some patients with the disorder may have features of both diseases." []
synonym: "ALS14" [UniProt]
synonym: "Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia" [UniProt]
xref: MedGen:C3151403
xref: MeSH:D000690
xref: MeSH:D057174
xref: MIM:613954 "phenotype"
[Term]
id: DI-03120
name: Obesity, hyperphagia, and developmental delay
def: "A disorder characterized by early-onset obesity, hyperphagia, and severe developmental delay in motor function, speech, and language." []
xref: MedGen:C3151303
xref: MeSH:D002658
xref: MeSH:D006963
xref: MeSH:D009765
xref: MIM:613886 "phenotype"
[Term]
id: DI-03121
name: Atrial fibrillation, familial, 9
def: "A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure." []
xref: MedGen:C3151431
xref: MeSH:D001281
xref: MIM:613980 "phenotype"
[Term]
id: DI-03122
name: Atrial fibrillation, familial, 10
def: "A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure." []
xref: MedGen:C3151464
xref: MeSH:D001281
xref: MIM:614022 "phenotype"
[Term]
id: DI-03123
name: Spermatogenic failure 9
def: "An infertility disorder caused by spermatogenesis defects. The most prominent feature is the malformation of the acrosome, which can be totally absent in most severe cases. Additional features are an abnormal nuclear shape and abnormal arrangement of the mitochondria of the spermatozoon." []
synonym: "Globozoospermia complete" [UniProt]
synonym: "Globozoospermia total" [UniProt]
xref: MedGen:C3151407
xref: MeSH:D007248
xref: MIM:613958 "phenotype"
[Term]
id: DI-03124
name: Spermatogenic failure 8
def: "An infertility disorder characterized by spermatogenesis failure and severe oligozoospermia." []
xref: MedGen:C3151406
xref: MeSH:D007248
xref: MIM:613957 "phenotype"
[Term]
id: DI-03125
name: Candidiasis, familial, 6
def: "A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans." []
synonym: "Candidiasis familial chronic mucocutaneous autosomal dominant" [UniProt]
synonym: "Chronic mucocutaneous candidiasis 6" [UniProt]
xref: MedGen:C3151405
xref: MeSH:D002178
xref: MIM:613956 "phenotype"
[Term]
id: DI-03126
name: Melanoma, cutaneous malignant 6
def: "A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but may also involve other sites." []
synonym: "Cutaneous malignant melanoma 6" [UniProt]
xref: MedGen:C3151417
xref: MeSH:D008545
xref: MIM:613972 "phenotype"
[Term]
id: DI-03127
name: Intellectual developmental disorder, X-linked 19
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
synonym: "MRX19" [UniProt]
synonym: "MRX31" [UniProt]
xref: MedGen:C0796225
xref: MeSH:D038901
xref: MIM:300844 "phenotype"
[Term]
id: DI-03128
name: Intellectual developmental disorder, autosomal dominant 6, with or without seizures
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD6 additional features may include seizures, hypotonia, abnormal movements, such as dystonia, and autistic features." []
xref: MedGen:C3151411
xref: MeSH:D008607
xref: MIM:613970 "phenotype"
[Term]
id: DI-03129
name: 3MC syndrome 1
def: "A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes." []
synonym: "Craniosynostosis with lid anomalies" [UniProt]
synonym: "Michels syndrome" [UniProt]
synonym: "Oculopalatoskeletal syndrome" [UniProt]
xref: MedGen:C0796059
xref: MeSH:D003398
xref: MeSH:D005141
xref: MIM:257920 "phenotype"
[Term]
id: DI-03130
name: 3MC syndrome 2
def: "A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes." []
synonym: "Carnevale Krajewska Fischetto syndrome" [UniProt]
synonym: "Carnevale syndrome" [UniProt]
synonym: "Oculo-skeletal-abdominal syndrome" [UniProt]
synonym: "OSA syndrome" [UniProt]
synonym: "Ptosis of eyelids with diastasis recti and hip dysplasia" [UniProt]
xref: MedGen:C0796279
xref: MeSH:D003398
xref: MeSH:D005141
xref: MIM:265050 "phenotype"
[Term]
id: DI-03131
name: D-glyceric aciduria
def: "A rare metabolic disease characterized by chronic metabolic acidosis and a highly variable clinical phenotype. Clinical features range from an encephalopathic presentation with seizures, microcephaly, severe intellectual disability and early death, to milder manifestations with only speech delay or even normal development." []
synonym: "D-glyceric acidemia" [UniProt]
synonym: "Glycerate kinase deficiency" [UniProt]
xref: MedGen:C0342765
xref: MedGen:C1291386
xref: MeSH:D008661
xref: MIM:220120 "phenotype"
[Term]
id: DI-03132
name: Fibrochondrogenesis 1
def: "A severe short-limbed skeletal dysplasia characterized by broad long- bone metaphyses, pear-shaped vertebral bodies, and characteristic morphology of the growth plate, in which the chondrocytes have a fibroblastic appearance and there are regions of fibrous cartilage extracellular matrix. Clinical features include a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen." []
xref: MedGen:C0265282
xref: MedGen:C3278138
xref: MeSH:D010009
xref: MIM:228520 "phenotype"
[Term]
id: DI-03133
name: Perrault syndrome 1
def: "A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild intellectual disability and cerebellar and peripheral nervous system involvement." []
synonym: "Gonadal dysgenesis XX type with deafness" [UniProt]
synonym: "Ovarian dysgenesis with sensorineural deafness" [UniProt]
xref: MedGen:C0685838
xref: MeSH:D006319
xref: MeSH:D023961
xref: MIM:233400 "phenotype"
[Term]
id: DI-03134
name: Ciliary dyskinesia, primary, 16
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome." []
synonym: "ICS16" [UniProt]
synonym: "Immotile cilia syndrome 16" [UniProt]
synonym: "Primary ciliary dyskinesia 16 with or without situs inversus" [UniProt]
xref: MedGen:C3151460
xref: MeSH:D007619
xref: MIM:614017 "phenotype"
[Term]
id: DI-03135
name: Craniodiaphyseal dysplasia autosomal dominant
def: "A severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine faces) and the bone deposition results in progressive stenosis of craniofacial foramina. Respiratory obstruction due to choanal stenosis compromises the clinical outcomes of affected patients." []
synonym: "Schaefer Stein Oshman syndrome" [UniProt]
xref: MedGen:C2675746
xref: MeSH:D000015
xref: MeSH:D019465
xref: MIM:122860 "phenotype"
[Term]
id: DI-03136
name: Fanconi anemia complementation group G
def: "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair." []
xref: MedGen:CN069000
xref: MeSH:D005199
xref: MIM:614082 "phenotype"
[Term]
id: DI-03137
name: Hypouricemia renal 2
def: "A disorder characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Patients often appear asymptomatic, but may be subject to exercise-induced acute renal failure, chronic renal dysfunction and nephrolithiasis." []
xref: MedGen:C2677549
xref: MedGen:C2677550
xref: MedGen:C2677551
xref: MeSH:D015499
xref: MIM:612076 "phenotype"
[Term]
id: DI-03138
name: Immunodeficiency-centromeric instability-facial anomalies syndrome 2
def: "A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients." []
xref: MedGen:C3279748
xref: MeSH:D007153
xref: MeSH:D043171
xref: MIM:614069 "phenotype"
[Term]
id: DI-03139
name: Chondrodysplasia with joint dislocations, GPAPP type
def: "A condition consisting of congenital joint dislocations, chondrodysplasia with short stature, micrognathia and cleft palate, and a distinctive face." []
synonym: "GPAPP deficiency" [UniProt]
xref: MedGen:C3279757
xref: MeSH:D010009
xref: MIM:614078 "phenotype"
[Term]
id: DI-03140
name: Autism, X-linked 5
def: "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability." []
xref: MedGen:C3275438
xref: MeSH:D001321
xref: MIM:300847 "phenotype"
[Term]
id: DI-03141
name: Moyamoya disease 5
def: "A progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults." []
xref: MedGen:C3279690
xref: MeSH:D009072
xref: MIM:614042 "phenotype"
[Term]
id: DI-03142
name: Atrial fibrillation, familial, 11
def: "A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure." []
xref: MedGen:C3279693
xref: MeSH:D001281
xref: MIM:614049 "phenotype"
[Term]
id: DI-03143
name: Atrial fibrillation, familial, 12
def: "A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure." []
xref: MedGen:C3279695
xref: MeSH:D001281
xref: MIM:614050 "phenotype"
[Term]
id: DI-03144
name: Myopathy, distal, 4
def: "A slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows non- specific changes with no evidence of rods, necrosis, or inflammation." []
synonym: "Williams distal myopathy" [UniProt]
xref: MedGen:C3279722
xref: MeSH:D049310
xref: MIM:614065 "phenotype"
[Term]
id: DI-03145
name: Spastic paraplegia 47, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG47 is characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe intellectual disability with poor or absent speech development." []
synonym: "Cerebral palsy, spastic quadriplegic 5" [UniProt]
synonym: "CPSQ5" [UniProt]
xref: MedGen:C3279738
xref: MeSH:D002547
xref: MeSH:D015419
xref: MIM:614066 "phenotype"
[Term]
id: DI-03146
name: Spastic paraplegia 52, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG52 is characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe intellectual disability with poor or absent speech development. Some patients may have seizures." []
synonym: "Cerebral palsy, spastic quadriplegic 6" [UniProt]
synonym: "CPSQ6" [UniProt]
xref: MedGen:C3279743
xref: MeSH:D002547
xref: MeSH:D015419
xref: MIM:614067 "phenotype"
[Term]
id: DI-03147
name: Mitochondrial complex V deficiency, nuclear type 2
def: "A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid." []
synonym: "Mitochondrial complex V (ATP synthase) deficiency TMEM70 type" [UniProt]
synonym: "Mitochondrial complex V (ATP synthase) deficiency type 2" [UniProt]
synonym: "Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency" [UniProt]
synonym: "Mitochondrial neonatal encephalocardiomyopathy due to ATP synthase deficiency" [UniProt]
xref: MedGen:C3279699
xref: MedGen:CN077715
xref: MeSH:D017237
xref: MIM:614052 "phenotype"
[Term]
id: DI-03148
name: Mitochondrial complex V deficiency, nuclear type 3
def: "A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid." []
synonym: "Mitochondrial complex V (ATP synthase) deficiency ATP5E type" [UniProt]
synonym: "Mitochondrial complex V (ATP synthase) deficiency type 3" [UniProt]
xref: MedGen:C3279708
xref: MedGen:CN077654
xref: MeSH:D017237
xref: MIM:614053 "phenotype"
[Term]
id: DI-03149
name: N-acetylaspartate deficiency
def: "A metabolic disorder resulting in truncal ataxia, marked developmental delay, seizures, and secondary microcephaly." []
synonym: "Hypoacetylaspartia" [UniProt]
synonym: "NAA deficiency" [UniProt]
xref: MedGen:C3279716
xref: MeSH:D000592
xref: MIM:614063 "phenotype"
[Term]
id: DI-03150
name: Cortical dysplasia, complex, with other brain malformations 1
def: "A disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe intellectual disability, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved." []
xref: MedGen:C3279670
xref: MeSH:D054081
xref: MIM:614039 "phenotype"
[Term]
id: DI-03151
name: Psoriasis 13
def: "A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis." []
synonym: "Psoriasis" [UniProt]
synonym: "Psoriasis vulgaris" [UniProt]
synonym: "PV" [UniProt]
xref: MedGen:C3279754
xref: MeSH:D011565
xref: MIM:614070 "phenotype"
[Term]
id: DI-03152
name: Anhaptoglobinemia
def: "A condition characterized by the absence of the serum glycoprotein haptoglobin. Serum levels of haptoglobin vary among normal persons: levels are low in the neonatal period and in the elderly, differ by population, and can be influenced by environmental factors, such as infection. Secondary hypohaptoglobinemia can occur as a consequence of hemolysis, during which haptoglobin binds to free hemoglobin. Congenital haptoglobin deficiency is a risk factor for anaphylactic non-hemolytic transfusion reactions." []
synonym: "Ahaptoglobinemia" [UniProt]
synonym: "Hypohaptoglobinemia" [UniProt]
xref: MedGen:C3279786
xref: MedGen:C3279787
xref: MeSH:D001796
xref: MIM:614081 "phenotype"
[Term]
id: DI-03153
name: Fanconi anemia complementation group L
def: "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair." []
xref: MedGen:CN068553
xref: MeSH:D005199
xref: MIM:614083 "phenotype"
[Term]
id: DI-03155
name: Sick sinus syndrome 3
def: "The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors." []
xref: MedGen:C3279791
xref: MeSH:D012804
xref: MIM:614090 "phenotype"
[Term]
id: DI-03156
name: Temtamy preaxial brachydactyly syndrome
def: "A syndrome characterized by multiple congenital anomalies, intellectual disability, sensorineural deafness, talon cusps of upper central incisors, growth retardation, and bilateral symmetric digital anomalies mainly in the form of preaxial brachydactyly and hyperphalangism." []
synonym: "Preaxial brachydactyly syndrome Temtamy type" [UniProt]
xref: MedGen:C1854466
xref: MeSH:D000015
xref: MIM:605282 "phenotype"
[Term]
id: DI-03157
name: Diaphanospondylodysostosis
def: "A rare, recessively inherited, perinatal lethal skeletal disorder. The primary skeletal characteristics of the phenotype include a small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, a depressed nasal bridge with a short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases." []
synonym: "Defect in vertebral ossification with nephrogenic rests" [UniProt]
xref: MedGen:C1842691
xref: MeSH:D004413
xref: MIM:608022 "phenotype"
[Term]
id: DI-03158
name: Czech dysplasia
def: "A skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes." []
synonym: "Czech dysplasia metatarsal type" [UniProt]
synonym: "Pseudorheumatoid dysplasia progressive with hypoplastic toes" [UniProt]
synonym: "Spondyloepiphyseal dysplasia with precocious osteoarthritis" [UniProt]
xref: MedGen:C1836683
xref: MeSH:D010009
xref: MIM:609162 "phenotype"
[Term]
id: DI-03159
name: Multiple self-healing squamous epithelioma
def: "A disorder characterized by multiple skin tumors that undergo spontaneous regression. Tumors appear most often on sun-exposed regions, are locally invasive, and undergo spontaneous resolution over a period of months leaving pitted scars." []
synonym: "ESS1" [UniProt]
synonym: "Ferguson-Smith disease" [UniProt]
synonym: "Ferguson-Smith type epithelioma" [UniProt]
synonym: "Self-healing squamous epithelioma type 1" [UniProt]
xref: MedGen:C0546476
xref: MeSH:D007636
xref: MIM:132800 "phenotype"
[Term]
id: DI-03160
name: Lissencephaly 4 with microcephaly
def: "A neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability." []
synonym: "Microlissencephaly" [UniProt]
xref: MedGen:C3151461
xref: MeSH:D054082
xref: MIM:614019 "phenotype"
[Term]
id: DI-03161
name: Epilepsy, progressive myoclonic 6
def: "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM6 is an autosomal recessive form characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade." []
xref: MedGen:C3279627
xref: MeSH:D020191
xref: MIM:614018 "phenotype"
[Term]
id: DI-03162
name: Deafness, X-linked, 4
def: "A non-syndromic form of sensorineural, progressive hearing loss with postlingual onset. In affected males, the auditory impairment affects initially high-frequency hearing. It later evolves to become severe to profound and affects all frequencies. Carrier females manifest moderate hearing impairment in the high frequencies." []
synonym: "Deafness nonsyndromic sensorineural progressive 6" [UniProt]
synonym: "Deafness X-linked 6 progressive" [UniProt]
synonym: "DFN6" [UniProt]
xref: MedGen:C1848204
xref: MeSH:D006319
xref: MIM:300066 "phenotype"
[Term]
id: DI-03163
name: Ceroid lipofuscinosis, neuronal, 4A (Kufs type), autosomal recessive
def: "An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4A has no visual involvement and is characterized by progressive myoclonic epilepsy." []
synonym: "Adult neuronal ceroid lipofuscinosis" [UniProt]
synonym: "CLN6 disease Kufs type A" [UniProt]
synonym: "Kufs disease" [UniProt]
synonym: "Kufs disease autosomal recessive" [UniProt]
xref: MedGen:C0022797
xref: MedGen:C2931675
xref: MeSH:D009472
xref: MIM:204300 "phenotype"
[Term]
id: DI-03164
name: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
def: "A disease characterized by microcephaly, moderate to severe intellectual disability, and various type of cortical malformations in most patients. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Cortical malformations include pachygyria with cortical thickening, microgyria, lissencephaly, hypoplasia of the corpus callosum, schizencephaly. All affected individuals have delayed psychomotor development. Some patients have seizures." []
xref: MedGen:C1858535
xref: MeSH:D008831
xref: MIM:604317 "phenotype"
[Term]
id: DI-03165
name: Dyskeratosis congenita, autosomal dominant, 3
def: "A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy." []
xref: MedGen:C3151445
xref: MeSH:D019871
xref: MIM:613990 "phenotype"
[Term]
id: DI-03166
name: Dyskeratosis congenita, autosomal recessive, 4
def: "A severe form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy." []
synonym: "Dyskeratosis congenita Scoggins type" [UniProt]
xref: MedGen:C3151444
xref: MeSH:D019871
xref: MIM:613989 "phenotype"
[Term]
id: DI-03167
name: Dyskeratosis congenita, autosomal recessive, 2
def: "A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy." []
xref: MedGen:C3151441
xref: MeSH:D019871
xref: MIM:613987 "phenotype"
[Term]
id: DI-03168
name: Dyskeratosis congenita, autosomal recessive, 3
def: "A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy." []
xref: MedGen:C3151442
xref: MeSH:D019871
xref: MIM:613988 "phenotype"
[Term]
id: DI-03169
name: Epilepsy, focal, with speech disorder and with or without impaired intellectual development
def: "An autosomal dominant, highly variable neurologic disorder. Features range from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and intellectual disability to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. The disorder encompasses several clinical entities, including Landau-Kleffner syndrome, epileptic encephalopathy with continuous spike and wave during slow-wave sleep, autosomal dominant rolandic epilepsy, intellectual disability and speech dyspraxia, and benign epilepsy with centrotemporal spikes." []
synonym: "Acquired aphasia with epilepsy" [UniProt]
synonym: "ADRESD" [UniProt]
synonym: "BECTS" [UniProt]
synonym: "Benign epilepsy of childhood with centrotemporal spikes" [UniProt]
synonym: "Continuous spike and waves during slow-wave sleep syndrome" [UniProt]
synonym: "CSWS" [UniProt]
synonym: "CSWSS" [UniProt]
synonym: "Landau-Kleffner syndrome" [UniProt]
synonym: "LKS" [UniProt]
synonym: "RESDAD" [UniProt]
xref: MedGen:C0282512
xref: MeSH:D001037
xref: MeSH:D004827
xref: MIM:245570 "phenotype"
[Term]
id: DI-03170
name: Granulomatous disease, chronic, autosomal recessive, 3
def: "A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens." []
synonym: "CGD autosomal recessive cytochrome b-positive type III" [UniProt]
synonym: "Chronic granulomatous disease autosomal recessive cytochrome b-positive type III" [UniProt]
synonym: "Granulomatous disease chronic due to NCF4 deficiency" [UniProt]
xref: MedGen:C3151409
xref: MeSH:D006105
xref: MIM:613960 "phenotype"
[Term]
id: DI-03171
name: Cyanosis transient neonatal
def: "A disorder characterized by cyanosis in the fetus and neonate, due to a defect in the fetal hemoglobin chain which has reduced affinity for oxygen. Some patients develop anemia resulting from increased destruction of red cells containing abnormal or unstable hemoglobin. The cyanosis resolves spontaneously by 5 to 6 months of age or earlier, as the adult beta-globin chain is produced and replaces the fetal gamma-globin chain." []
xref: MedGen:C3151421
xref: MeSH:D003490
xref: MIM:613977 "phenotype"
[Term]
id: DI-03172
name: Hypotrichosis 3
def: "A condition characterized by the presence of less than the normal amount of hair. Affected individuals have normal hair in early childhood but experience progressive hair loss limited to the scalp beginning in the middle of the first decade and almost complete baldness by the third decade. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. HYPT3 inheritance is autosomal dominant." []
synonym: "HTSS2" [UniProt]
synonym: "Hypotrichosis simplex of the scalp 2" [UniProt]
xref: MedGen:C3151432
xref: MeSH:D007039
xref: MIM:613981 "phenotype"
[Term]
id: DI-03173
name: Osteogenesis imperfecta 12
def: "A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI12 is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, delayed teeth eruption, no dentinogenesis imperfecta, normal hearing, and white sclerae." []
synonym: "OI type XII" [UniProt]
synonym: "OI-XII" [UniProt]
synonym: "Osteogenesis imperfecta Sillence type III" [UniProt]
synonym: "Osteogenesis imperfecta type XII" [UniProt]
xref: MedGen:C3151218
xref: MeSH:D010013
xref: MIM:613849 "phenotype"
[Term]
id: DI-03174
name: Pituitary hormone deficiency, combined, 6
def: "Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD6 patients manifest neonatal hypoglycemia, and deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone." []
xref: MedGen:C3151440
xref: MeSH:D007018
xref: MIM:613986 "phenotype"
[Term]
id: DI-03175
name: Nestor-Guillermo progeria syndrome
def: "An atypical progeroid syndrome characterized by normal development in the first years of life, later followed by the emergence of generalized lipoatrophy, severe osteoporosis, and marked osteolysis. The atrophic facial subcutaneous fat pad and the marked osteolysis of the maxilla and mandible result in a typical pseudosenile facial appearance with micrognathia, prominent subcutaneous venous patterning, a convex nasal ridge, and proptosis. Cognitive development is completely normal. Patients do not have cardiovascular dysfunction, atherosclerosis, or metabolic anomalies." []
synonym: "Progeria syndrome childhood-onset with osteolysis" [UniProt]
synonym: "PSCOO" [UniProt]
xref: MedGen:C3151446
xref: MeSH:D011371
xref: MIM:614008 "phenotype"
[Term]
id: DI-03176
name: Brittle cornea syndrome 2
def: "A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobile joints." []
xref: MedGen:C3280011
xref: MeSH:D004535
xref: MIM:614170 "phenotype"
[Term]
id: DI-03177
name: Myopia 21, autosomal dominant
def: "A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far." []
xref: MedGen:C3279997
xref: MeSH:D009216
xref: MIM:614167 "phenotype"
[Term]
id: DI-03178
name: Craniofacial dysmorphism, skeletal anomalies and impaired intellectual development syndrome 1
def: "An autosomal recessive disorder characterized by craniofacial and skeletal anomalies, associated with intellectual disability. Typical craniofacial dysmorphism include brachycephaly, highly arched bushy eyebrows, synophrys, long eyelashes, low-set ears, microdontism of primary teeth, and generalized gingival hyperplasia, whereas Sprengel deformity of scapula, fusion of spine, rib abnormities, pectus excavatum, and pes planus represent skeletal anomalies." []
synonym: "Cerebro-facio-thoracic dysplasia" [UniProt]
synonym: "Cerebrofaciothoracic dysplasia" [UniProt]
synonym: "TMCO1 defect syndrome" [UniProt]
xref: MedGen:C1859252
xref: MeSH:D008607
xref: MeSH:D009139
xref: MeSH:D019465
xref: MIM:213980 "phenotype"
[Term]
id: DI-03179
name: Immunodeficiency 31C
def: "A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans." []
synonym: "CANDF7" [UniProt]
synonym: "Candidiasis, familial chronic mucocutaneous, autosomal dominant" [UniProt]
synonym: "Candidiasis, familial, 7" [UniProt]
synonym: "Chronic mucocutaneous candidiasis 7" [UniProt]
xref: MedGen:C3279990
xref: MeSH:D002178
xref: MIM:614162 "phenotype"
[Term]
id: DI-03180
name: Intellectual developmental disorder, X-linked 88
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:C3275444
xref: MeSH:D038901
xref: MIM:300852 "phenotype"
[Term]
id: DI-03181
name: Gray platelet syndrome
def: "A rare platelet disorder characterized by a selective deficiency in the number and contents of platelet alpha-granules. It is associated with mild to moderate bleeding tendency and moderate thrombocytopenia. The platelets are enlarged and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules." []
synonym: "BDPLT4" [UniProt]
synonym: "Bleeding disorder platelet-type 4" [UniProt]
synonym: "Grey platelet syndrome" [UniProt]
synonym: "Platelet alpha-granule deficiency" [UniProt]
xref: MedGen:C0272302
xref: MeSH:D055652
xref: MIM:139090 "phenotype"
[Term]
id: DI-03182
name: Short-rib thoracic dysplasia 7 with or without polydactyly
def: "A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. SRTD7 hallmarks are acromesomelic hypomineralization, campomelia, polysyndactyly, laterality defects, and cystic kidneys." []
synonym: "Short rib-polydactyly syndrome type V" [UniProt]
synonym: "SRPS type V" [UniProt]
synonym: "SRPS5" [UniProt]
xref: MedGen:C3279792
xref: MeSH:D012779
xref: MIM:614091 "phenotype"
[Term]
id: DI-03183
name: Cranioectodermal dysplasia 3
def: "A disorder primarily characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described." []
synonym: "Sensenbrenner syndrome 3" [UniProt]
xref: MedGen:C3279807
xref: MeSH:D004476
xref: MIM:614099 "phenotype"
[Term]
id: DI-03184
name: Combined oxidative phosphorylation deficiency 8
def: "A mitochondrial disease characterized by a lethal infantile hypertrophic cardiomyopathy, generalized muscle dysfunction and some neurologic involvement. The liver is not affected." []
synonym: "Cardiomyopathy hypertrophic mitochondrial fatal infantile" [UniProt]
xref: MedGen:C3279793
xref: MeSH:D002312
xref: MeSH:D017240
xref: MIM:614096 "phenotype"
[Term]
id: DI-03185
name: Intellectual developmental disorder, autosomal dominant 2
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:C3279842
xref: MeSH:D008607
xref: MIM:614113 "phenotype"
[Term]
id: DI-03186
name: Intellectual developmental disorder, autosomal dominant 7
def: "A disease characterized by primary microcephaly, severe intellectual disability without speech, anxious autistic behavior, and dysmorphic features, including bitemporal narrowing, deep-set eyes, large simple ears, and a pointed nasal tip. Intellectual disability is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:C3279839
xref: MeSH:D008607
xref: MIM:614104 "phenotype"
[Term]
id: DI-03187
name: Hermansky-Pudlak syndrome 9
def: "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS." []
synonym: "Albinism with hemorrhagic diathesis and pigmented reticuloendothelial" [UniProt]
synonym: "Delta storage pool disease" [UniProt]
xref: MedGen:C3280026
xref: MeSH:D022861
xref: MIM:614171 "phenotype"
[Term]
id: DI-03188
name: Focal segmental glomerulosclerosis 6
def: "A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. FSGS6 is a childhood-onset disorder resulting in nephrotic syndrome, which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema." []
xref: MedGen:C3279905
xref: MeSH:D005923
xref: MIM:614131 "phenotype"
[Term]
id: DI-03189
name: Neuropathy, hereditary sensory, 1E
def: "A neurodegenerative disorder characterized by adult onset of progressive peripheral sensory loss associated with progressive hearing impairment and early-onset dementia." []
synonym: "Hereditary sensory neuropathy type IE" [UniProt]
synonym: "HSN IE" [UniProt]
synonym: "Neuropathy hereditary sensory with hearing loss and dementia" [UniProt]
xref: MedGen:C3279885
xref: MeSH:D009477
xref: MIM:614116 "phenotype"
[Term]
id: DI-03190
name: Deafness, autosomal recessive, 15
def: "A form of non-syndromic sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Deafness autosomal recessive 72" [UniProt]
synonym: "Deafness autosomal recessive 95" [UniProt]
synonym: "DFNB72" [UniProt]
synonym: "DFNB95" [UniProt]
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 15" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal recessive type 15" [UniProt]
xref: MedGen:C1866094
xref: MeSH:D006319
xref: MIM:601869 "phenotype"
[Term]
id: DI-03191
name: Cataract 18
def: "An opacification of the crystalline lens of the eye becoming evident at birth or in infancy. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function." []
synonym: "Autosomal recessive congenital cataract 2" [UniProt]
synonym: "CATC2" [UniProt]
xref: MedGen:C1864908
xref: MeSH:D002386
xref: MIM:610019 "phenotype"
[Term]
id: DI-03192
name: Intellectual developmental disorder, autosomal recessive 14
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:C3151462
xref: MeSH:D008607
xref: MIM:614020 "phenotype"
[Term]
id: DI-03193
name: Heme oxygenase 1 deficiency
def: "A disease characterized by impaired stress hematopoiesis, resulting in marked erythrocyte fragmentation and intravascular hemolysis, coagulation abnormalities, endothelial damage, and iron deposition in renal and hepatic tissues. Clinical features include persistent hemolytic anemia, asplenia, nephritis, generalized erythematous rash, growth retardation and hepatomegaly." []
xref: MedGen:C1841651
xref: MeSH:D000743
xref: MIM:614034 "phenotype"
[Term]
id: DI-03194
name: Adams-Oliver syndrome 1
def: "A disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins." []
synonym: "Absence defect of limbs scalp and skull" [UniProt]
synonym: "Aplasia cutis congenita with terminal transverse limb defects" [UniProt]
synonym: "Congenital scalp defects with distal limb reduction anomalies" [UniProt]
xref: MedGen:C0265268
xref: MedGen:C1970140
xref: MedGen:CN028867
xref: MeSH:D004476
xref: MeSH:D017880
xref: MIM:100300 "phenotype"
[Term]
id: DI-03195
name: Pheochromocytoma/paraganglioma syndrome 5
def: "A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL5 inheritance is autosomal dominant." []
synonym: "Paragangliomas 5" [UniProt]
synonym: "PGL5" [UniProt]
xref: MedGen:C3279992
xref: MeSH:D010235
xref: MIM:614165 "phenotype"
[Term]
id: DI-03197
name: Spondyloenchondrodysplasia with immune dysregulation
def: "A disease characterized by vertebral and metaphyseal dysplasia, spasticity with cerebral calcifications, and strong predisposition to autoimmune diseases. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone." []
synonym: "Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia" [UniProt]
synonym: "Roifman immunoskeletal syndrome" [UniProt]
synonym: "SPENCD" [UniProt]
xref: MedGen:C1842763
xref: MeSH:D001327
xref: MeSH:D010009
xref: MIM:607944 "phenotype"
[Term]
id: DI-03198
name: Hyperaldosteronism, familial, 3
def: "A form of hyperaldosteronism characterized by hypertension secondary to massive adrenal mineralocorticoid production. HALD3 patients present with childhood hypertension, elevated aldosteronism levels, and high levels of the hybrid steroids 18-oxocortisol and 18- hydroxycortisol. Hypertension and aldosteronism are not reversed by administration of exogenous glucocorticoids and patients require adrenalectomy to control hypertension." []
synonym: "Familial hyperaldosteronism 3" [UniProt]
synonym: "Familial hyperaldosteronism type III" [UniProt]
synonym: "FH III" [UniProt]
synonym: "FH type III" [UniProt]
synonym: "FH3" [UniProt]
xref: MedGen:C3150933
xref: MeSH:D006929
xref: MIM:613677 "phenotype"
[Term]
id: DI-03199
name: Nail disorder, non-syndromic congenital, 1
def: "An autosomal recessive nail disorder characterized by a variable degree of onychauxis (thick nails), hyponychia, and onycholysis of all nails, with claw-shaped fingernails in some individuals. No other anomalies of ectodermal tissues, including hair, teeth, sweat glands, or skin, are noted, and individuals with dysplastic nails have normal hearing and normal psychomotor development." []
synonym: "Claw-shaped nails" [UniProt]
synonym: "Nail disorder, non-syndromic congenital, 10" [UniProt]
synonym: "NDNC10" [UniProt]
synonym: "Onychauxis hyponychia and onycholysis" [UniProt]
xref: MedGen:C3279974
xref: MeSH:D054039
xref: MIM:161050 "phenotype"
[Term]
id: DI-03200
name: Nail disorder, non-syndromic congenital, 3
def: "A nail disorder characterized by a white appearance of the nail plate (true leukonychia), the nail bed (pseudoleukonychia), or neither (apparent leukonychia). Leukonychia may involve all of the nail (leukonychia totalis) or only part of the nail (leukonychia partialis), or can appear as one or more transverse bands (leukonychia striata) or white spots (leukonychia punctata)." []
synonym: "Leukonychia partialis" [UniProt]
synonym: "Leukonychia punctata" [UniProt]
synonym: "Leukonychia striatus" [UniProt]
synonym: "Leukonychia totalis" [UniProt]
synonym: "Leukonychia totalis and/or partialis" [UniProt]
synonym: "Porcelain nails" [UniProt]
xref: MedGen:C0263532
xref: MedGen:C0544855
xref: MedGen:C3276977
xref: MeSH:D009260
xref: MIM:151600 "phenotype"
[Term]
id: DI-03201
name: Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia
def: "A disease characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation." []
xref: MedGen:C3275445
xref: MeSH:D008231
xref: MIM:300853 "phenotype"
[Term]
id: DI-03202
name: Hemoglobin H disease
def: "A form of alpha-thalassemia due to the loss of three alpha genes. This results in high levels of a tetramer of four beta chains (hemoglobin H), causing a severe and life-threatening anemia. Untreated, most patients die in childhood or early adolescence." []
synonym: "Alpha-thalassemia hemoglobin H type" [UniProt]
synonym: "Hemoglobin H disease deletional" [UniProt]
synonym: "Hemoglobin H disease non-deletional" [UniProt]
xref: MedGen:C3161174
xref: MedGen:C3279561
xref: MeSH:D017085
xref: MIM:613978 "phenotype"
[Term]
id: DI-03203
name: Multiple congenital anomalies-hypotonia-seizures syndrome 1
def: "An autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age." []
synonym: "Glycosylphosphatidylinositol biosynthesis defect 3" [UniProt]
synonym: "GPIBD3" [UniProt]
xref: MedGen:C3279775
xref: MedGen:CN077657
xref: MeSH:D000015
xref: MIM:614080 "phenotype"
[Term]
id: DI-03204
name: Immunoglobulin kappa light chain deficiency
def: "A disease characterized by the complete absence of immunoglobulin kappa chains." []
synonym: "Kappa chain deficiency" [UniProt]
xref: MedGen:C3279824
xref: MeSH:D007153
xref: MIM:614102 "phenotype"
[Term]
id: DI-03205
name: Pyruvate dehydrogenase E1-beta deficiency
def: "An enzymatic defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis." []
synonym: "PDH deficiency" [UniProt]
synonym: "Pyruvate dehydrogenase deficiency" [UniProt]
xref: MedGen:C1867399
xref: MedGen:C3279841
xref: MeSH:D015325
xref: MIM:614111 "phenotype"
[Term]
id: DI-03206
name: Mosaic variegated aneuploidy syndrome 2
def: "A severe developmental disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases." []
xref: MedGen:C3279843
xref: MeSH:D025063
xref: MIM:614114 "phenotype"
[Term]
id: DI-03207
name: Cortical malformations occipital
def: "A disease in which affected individuals develop seizures, sometimes associated with transient visual changes. Brain MRI shows both pachygyria and polymicrogyria restricted to the lateral occipital lobes." []
xref: MedGen:C3279875
xref: MeSH:D054220
xref: MIM:614115 "phenotype"
[Term]
id: DI-03208
name: Hydrolethalus syndrome 2
def: "An embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding." []
xref: MedGen:C3279899
xref: MedGen:CN077931
xref: MeSH:D006228
xref: MeSH:D006849
xref: MIM:614120 "phenotype"
[Term]
id: DI-03209
name: Hyperbiliverdinemia
def: "A condition characterized by a green discoloration of the skin, urine, serum, and other bodily fluids. It is due to increased biliverdin resulting from inefficient conversion to bilirubin. Affected individuals appear to have symptoms only in the context of obstructive cholestasis and/or liver failure. In some cases, green jaundice can resolve after resolution of obstructive cholestasis." []
synonym: "Green jaundice" [UniProt]
xref: MedGen:C3279964
xref: MeSH:D002779
xref: MIM:614156 "phenotype"
[Term]
id: DI-03210
name: Muscle hypertrophy
def: "A condition characterized by increased muscle bulk and strength. Affected individuals are exceptionally strong." []
xref: MedGen:CN069079
xref: MeSH:D006984
xref: MeSH:D009135
xref: MIM:614160 "phenotype"
[Term]
id: DI-03211
name: Delayed sleep phase syndrome
def: "A circadian rhythm sleep disorder characterized by sleep-onset insomnia and difficulty in awakening at the desired time. Patients with DSPS have chronic difficulty in adjusting their sleep-onset and wake-up times to occupational, school, and social activities." []
xref: MedGen:C0393770
xref: MedGen:C3279991
xref: MeSH:D020178
xref: MIM:614163 "phenotype"
[Term]
id: DI-03212
name: Immunodeficiency 21
def: "An immunodeficiency disease characterized by profoundly decreased or absent monocytes, B-lymphocytes, natural killer lymphocytes, and circulating and tissue dendritic cells, with little or no effect on T- cell numbers. Clinical features of DCML include susceptibility to disseminated non-tuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most patients, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. This syndrome links susceptibility to mycobacterial, viral, and fungal infections with malignancy and can be transmitted in an autosomal dominant pattern." []
synonym: "Combined immunodeficiency with susceptibility to mycobacterial viral and fungal infections" [UniProt]
synonym: "DCML" [UniProt]
synonym: "Dendritic cell monocyte lymphocyte B and natural killer lymphocyte deficiency" [UniProt]
synonym: "Monocytopenia and mycobacterial infection syndrome" [UniProt]
synonym: "Monocytopenia with susceptibility to mycobacterial fungal and papillomavirus infections and myelodysplasia" [UniProt]
synonym: "MONOMAC" [UniProt]
xref: MedGen:C3280030
xref: MeSH:D008231
xref: MIM:614172 "phenotype"
[Term]
id: DI-03213
name: Mesothelioma, malignant
def: "An aggressive neoplasm of the serosal lining of the chest. It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos." []
xref: MedGen:C0345967
xref: MeSH:D008654
xref: MIM:156240 "phenotype"
[Term]
id: DI-03214
name: Hypercalcemia, infantile, 1
def: "A disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis." []
synonym: "Hypercalcemia infantile" [UniProt]
synonym: "Idiopathic hypercalcemia of infancy" [UniProt]
xref: MedGen:C0268080
xref: MeSH:D006934
xref: MIM:143880 "phenotype"
[Term]
id: DI-03215
name: Manitoba oculotrichoanal syndrome
def: "A rare condition defined by eyelid colobomas, cryptophthalmos, and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis." []
synonym: "Marles syndrome" [UniProt]
xref: MedGen:C1855425
xref: MeSH:D005124
xref: MIM:248450 "phenotype"
[Term]
id: DI-03216
name: Proteus syndrome
def: "A highly variable, severe disorder of asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, and vascular malformations. Many features of Proteus syndrome overlap with other overgrowth syndromes." []
synonym: "Partial gigantism of hands and feet nevi hemihypertrophy and macrocephaly" [UniProt]
xref: MedGen:C0085261
xref: MedGen:C1867610
xref: MeSH:D016715
xref: MIM:176920 "phenotype"
[Term]
id: DI-03217
name: Agnathia-otocephaly complex
def: "A rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal." []
synonym: "Dysgnathia complex agnathia-holoprosencephaly" [UniProt]
synonym: "Holoprosencephaly-agnathia" [UniProt]
synonym: "Otocephaly" [UniProt]
xref: MedGen:C0265242
xref: MedGen:C1876185
xref: MeSH:D007569
xref: MeSH:D016142
xref: MIM:202650 "phenotype"
[Term]
id: DI-03218
name: Sudden cardiac death
def: "Unexpected rapid death due to cardiovascular collapse in a short time period, generally within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as chest pain and cardiac arrhythmias, particularly ventricular tachycardia, can lead to the loss of consciousness and cardiac arrest followed by biological death." []
xref: MedGen:C0085298
xref: MedGen:C0264886
xref: MedGen:C1861884
xref: MeSH:D016757
xref: MIM:115080 "phenotype"
[Term]
id: DI-03219
name: Joubert syndrome 12
def: "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease." []
xref: MedGen:C3277723
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:200990 "phenotype"
[Term]
id: DI-03220
name: 3M syndrome 3
def: "A disorder characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels." []
synonym: "3M syndrome-3" [UniProt]
synonym: "Three M syndrome 3" [UniProt]
xref: MedGen:C3280146
xref: MeSH:D004392
xref: MIM:614205 "phenotype"
[Term]
id: DI-03221
name: Meckel syndrome 9
def: "A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly." []
xref: MedGen:C3280155
xref: MeSH:D002925
xref: MeSH:D004677
xref: MeSH:D007690
xref: MIM:614209 "phenotype"
[Term]
id: DI-03222
name: Facial clefting, oblique, 1
def: "A rare form of facial clefting. A facial cleft is any of the fissures between the embryonic prominences that normally unite to form the face." []
synonym: "Oblique facial cleft" [UniProt]
synonym: "Oculomaxillofacial dysplasia with oblique facial clefts" [UniProt]
synonym: "Orbitofacial cleft" [UniProt]
xref: MedGen:C1838348
xref: MeSH:D019767
xref: MIM:600251 "phenotype"
[Term]
id: DI-03223
name: Adams-Oliver syndrome 2
def: "A disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins." []
xref: MedGen:C3280182
xref: MeSH:D004476
xref: MeSH:D017880
xref: MIM:614219 "phenotype"
[Term]
id: DI-03224
name: Geleophysic dysplasia 2
def: "An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues." []
synonym: "Geleophysic dwarfism" [UniProt]
xref: MedGen:C3280054
xref: MeSH:D004392
xref: MIM:614185 "phenotype"
[Term]
id: DI-03225
name: Acromicric dysplasia
def: "An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well- defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal." []
xref: MedGen:CN074238
xref: MeSH:D001848
xref: MIM:102370 "phenotype"
[Term]
id: DI-03226
name: Ceroid lipofuscinosis, neuronal, 4B (Kufs type), autosomal dominant
def: "An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4B has no visual involvement and is characterized by seizures and other neurologic symptoms." []
synonym: "Kufs disease autosomal dominant" [UniProt]
synonym: "Neuronal ceroid lipofuscinosis Parry type" [UniProt]
xref: MedGen:C1834207
xref: MeSH:D009472
xref: MIM:162350 "phenotype"
[Term]
id: DI-03227
name: Robinow syndrome, autosomal dominant 1
def: "A disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally milder in dominant cases." []
synonym: "Acral dysostosis with facial and genital abnormalities" [UniProt]
synonym: "Fetal face syndrome" [UniProt]
synonym: "Robinow dwarfism" [UniProt]
xref: MedGen:C0265205
xref: MeSH:D004392
xref: MeSH:D014564
xref: MeSH:D017880
xref: MeSH:D019465
xref: MIM:180700 "phenotype"
[Term]
id: DI-03228
name: Warburg micro syndrome 2
def: "A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe intellectual disability, spastic diplegia, and hypogonadism." []
synonym: "Micro syndrome 2" [UniProt]
xref: MedGen:C3280214
xref: MeSH:D000015
xref: MIM:614225 "phenotype"
[Term]
id: DI-03229
name: Warburg micro syndrome 3
def: "A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe intellectual disability, spastic diplegia, and hypogonadism." []
synonym: "Micro syndrome 3" [UniProt]
xref: MedGen:C3280203
xref: MeSH:D000015
xref: MIM:614222 "phenotype"
[Term]
id: DI-03230
name: Holoprosencephaly 11
def: "A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability." []
synonym: "Holoprosencephaly-11" [UniProt]
xref: MedGen:C3280215
xref: MeSH:D016142
xref: MIM:614226 "phenotype"
[Term]
id: DI-03231
name: Deafness, autosomal dominant, 64
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
synonym: "Non-syndromic neurosensory deafness autosomal dominant type 64" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal dominant type 64" [UniProt]
xref: MedGen:C3279948
xref: MeSH:D006319
xref: MIM:614152 "phenotype"
[Term]
id: DI-03232
name: Joubert syndrome 13
def: "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease." []
xref: MedGen:C3280031
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:614173 "phenotype"
[Term]
id: DI-03233
name: Meckel syndrome 10
def: "A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly." []
xref: MedGen:C3280036
xref: MeSH:D002925
xref: MeSH:D004677
xref: MeSH:D007690
xref: MIM:614175 "phenotype"
[Term]
id: DI-03234
name: Retinitis pigmentosa 61
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C3280041
xref: MeSH:D012174
xref: MIM:614180 "phenotype"
[Term]
id: DI-03235
name: Retinitis pigmentosa 62
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C3280042
xref: MeSH:D012174
xref: MIM:614181 "phenotype"
[Term]
id: DI-03236
name: Leber congenital amaurosis 16
def: "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus." []
xref: MedGen:C3280062
xref: MeSH:D057130
xref: MIM:614186 "phenotype"
[Term]
id: DI-03237
name: Nephrotic syndrome 5, with or without ocular abnormalities
def: "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS5 is characterized by very early onset of progressive renal failure. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus." []
synonym: "Mesangial sclerosis, diffuse renal, with ocular abnormalities" [UniProt]
xref: MedGen:C3280113
xref: MeSH:D009404
xref: MIM:614199 "phenotype"
[Term]
id: DI-03238
name: Nephrotic syndrome 6
def: "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure." []
xref: MedGen:C3280100
xref: MeSH:D009404
xref: MIM:614196 "phenotype"
[Term]
id: DI-03239
name: Primary pigmented nodular adrenocortical disease 3
def: "A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Adrenal glands show overall normal size and weight, and multiple small yellow- to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there are moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits and massive circumscribed and infiltrating extra-adrenal cortical excrescences with micronodules. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes." []
synonym: "Adrenal Cushing syndrome due to PPNAD3" [UniProt]
xref: MedGen:C3280094
xref: MeSH:D003480
xref: MIM:614190 "phenotype"
[Term]
id: DI-03240
name: Narcolepsy 7
def: "Neurological disabling sleep disorder, characterized by excessive daytime sleepiness, sleep fragmentation, symptoms of abnormal rapid- eye-movement (REM) sleep, cataplexy, hypnagogic hallucinations, and sleep paralysis. Cataplexy is a sudden loss of muscle tone triggered by emotions, which is the most valuable clinical feature used to diagnose narcolepsy. Human narcolepsy is primarily a sporadically occurring disorder but familial clustering has been observed." []
synonym: "Narcolepsy-cataplexy syndrome 7" [UniProt]
synonym: "Narcoleptic syndrome 7" [UniProt]
xref: MedGen:C3280266
xref: MeSH:D009290
xref: MIM:614250 "phenotype"
[Term]
id: DI-03241
name: Rafiq syndrome
def: "An autosomal recessive disorder characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia. The facial dysmorphism comprises prominent eyebrows with lateral thinning, downward-slanting palpebral fissures, bulbous tip of the nose, large ears, and a thin upper lip. Behavioral problems, including overeating, verbal and physical aggression, have been reported in some cases. Serum transferrin isoelectric focusing shows a type 2 pattern." []
synonym: "CDG2U" [UniProt]
synonym: "MRT15" [UniProt]
xref: MedGen:C3280127
xref: MeSH:D008607
xref: MIM:614202 "phenotype"
[Term]
id: DI-03242
name: Parkinson disease 17
def: "An autosomal dominant, adult-onset form of Parkinson disease. Parkinson disease is a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain." []
xref: MedGen:C3280133
xref: MeSH:D010300
xref: MIM:614203 "phenotype"
[Term]
id: DI-03243
name: Spastic paraplegia 30A, autosomal dominant
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG30A patients have a pure form of the disorder, limited to spastic paraplegia, whereas others may have a complicated form that includes additional features such as cognitive dysfunction, learning disabilities, peripheral sensorimotor neuropathy, urinary sphincter problems, and/or cerebellar atrophy. SPG30A is characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs. Inheritance is autosomal dominant." []
xref: MedGen:C1835896
xref: MeSH:D015419
xref: MIM:610357 "phenotype"
[Term]
id: DI-03244
name: Spinocerebellar ataxia, autosomal recessive, 11
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR11 is associated with psychomotor retardation." []
xref: MedGen:C3280226
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:614229 "phenotype"
[Term]
id: DI-03245
name: Spinocerebellar ataxia 36
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA36 is characterized by complicated clinical features, with ataxia as the first symptom, followed by characteristic late-onset involvement of the motor neuron system. Ataxic symptoms, such as gait and truncal instability, ataxic dysarthria, and uncoordinated limbs, start in late forties to fifties. Characteristically, affected individuals exhibit tongue atrophy with fasciculation. Progression of motor neuron involvement is typically limited to the tongue and main proximal skeletal muscles in both upper and lower extremities." []
xref: MedGen:C3472711
xref: MedGen:CN078798
xref: MeSH:D020754
xref: MIM:614153 "phenotype"
[Term]
id: DI-03246
name: Combined malonic and methylmalonic aciduria
def: "A metabolic disease characterized by malonic and methylmalonic aciduria, with urinary excretion of much larger amounts of methylmalonic acid than malonic acid, in the presence of normal malonyl-CoA decarboxylase activity. Clinical features include coma, ketoacidosis, hypoglycemia, failure to thrive, microcephaly, dystonia, axial hypotonia and/or developmental delay, and neurologic manifestations including seizures, psychiatric disease and/or cognitive decline." []
xref: MedGen:C3280314
xref: MeSH:D008052
xref: MIM:614265 "phenotype"
[Term]
id: DI-03247
name: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
def: "An autosomal dominant neurodegenerative disorder characterized by adult onset of frontotemporal dementia and/or amyotrophic lateral sclerosis in an affected individual. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis." []
synonym: "ALSFTD" [UniProt]
synonym: "Amyotrophic lateral sclerosis and/or frontotemporal dementia" [UniProt]
synonym: "Frontotemporal dementia and/or motor neuron disease" [UniProt]
synonym: "FTDMND" [UniProt]
xref: MedGen:C1862937
xref: MeSH:D000690
xref: MeSH:D057174
xref: MIM:105550 "phenotype"
[Term]
id: DI-03248
name: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
def: "An autosomal recessive neurodegenerative disorder characterized by childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression. Other features may include hypodontia or oligodontia and hypogonadotropic hypogonadism. There is considerable inter- and intrafamilial variability." []
synonym: "4H leukodystrophy 1" [UniProt]
synonym: "4H syndrome" [UniProt]
synonym: "ADDH" [UniProt]
synonym: "Ataxia delayed dentition and hypomyelination" [UniProt]
synonym: "Leukodystrophy hypomyelinating with hypodontia and hypogonadotropic hypogonadism 4H syndrome" [UniProt]
synonym: "Leukodystrophy with oligodontia" [UniProt]
synonym: "Leukoencephalopathy hypomyelinating with ataxia and delayed dentition" [UniProt]
synonym: "TACH" [UniProt]
synonym: "Tremor-ataxia with central hypomyelination" [UniProt]
xref: MedGen:C2676243
xref: MeSH:D020279
xref: MIM:607694 "phenotype"
[Term]
id: DI-03249
name: Renal cell carcinoma Xp11-associated
def: "Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non- papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. RCCX1 histology shows both clear cells and papillary architecture, often with abundant psammoma bodies, although variable histologic features have been observed." []
xref: MedGen:C3275446
xref: MeSH:D002292
xref: MIM:300854 "phenotype"
[Term]
id: DI-03250
name: Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
synonym: "Intellectual developmental disorder, autosomal recessive 18" [UniProt]
xref: MedGen:C3280265
xref: MeSH:D008607
xref: MIM:614249 "phenotype"
[Term]
id: DI-03252
name: NESCAV syndrome
def: "An autosomal dominant neurodegenerative disorder with variable manifestations. Main features are delayed psychomotor development, progressive spasticity, intellectual disability, speech delay, and learning disabilities. Some patients never achieve ambulation. Additional variable features are cortical visual impairment, often associated with optic atrophy, axonal peripheral neuropathy, seizures, dysautonomia, ataxia, and dystonia. Brain imaging often shows progressive cerebellar atrophy and thin corpus callosum. Disease onset is in infancy or early childhood." []
synonym: "MRD9" [UniProt]
synonym: "Neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment" [UniProt]
xref: MedGen:C3280283
xref: MeSH:D008607
xref: MIM:614255 "phenotype"
[Term]
id: DI-03253
name: Intellectual developmental disorder, autosomal dominant 10
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:C3280284
xref: MeSH:D008607
xref: MIM:614256 "phenotype"
[Term]
id: DI-03254
name: Intellectual developmental disorder, autosomal dominant 11
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:C3280285
xref: MeSH:D008607
xref: MIM:614257 "phenotype"
[Term]
id: DI-03255
name: Intellectual developmental disorder, autosomal recessive 12
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:C1970200
xref: MeSH:D008607
xref: MIM:611090 "phenotype"
[Term]
id: DI-03256
name: Quebec platelet disorder
def: "An autosomal dominant bleeding disorder due to a gain-of-function defect in fibrinolysis. Although affected individuals do not exhibit systemic fibrinolysis, they show delayed onset bleeding after challenge, such as surgery. The hallmark of the disorder is markedly increased PLAU levels within platelets, which causes intraplatelet plasmin generation and secondary degradation of alpha-granule proteins." []
synonym: "BDPLT5" [UniProt]
synonym: "Bleeding disorder platelet-type 5" [UniProt]
synonym: "Factor V Quebec" [UniProt]
xref: MedGen:C1866423
xref: MeSH:D006470
xref: MIM:601709 "phenotype"
[Term]
id: DI-03257
name: Bleeding disorder, platelet-type, 11
def: "A mild to moderate bleeding disorder caused by defective platelet activation and aggregation in response to collagen." []
synonym: "Glycoprotein VI deficiency" [UniProt]
synonym: "GP VI deficiency" [UniProt]
xref: MedGen:C3280120
xref: MeSH:D001791
xref: MeSH:D006470
xref: MIM:614201 "phenotype"
[Term]
id: DI-03258
name: Bleeding disorder, platelet-type, 13
def: "A disorder characterized by reduced platelet aggregation and a tendency to mild mucocutaneous bleeding." []
synonym: "Bleeding disorder due to defective platelet thromboxane A2 receptor" [UniProt]
xref: MedGen:C3279614
xref: MeSH:D001791
xref: MeSH:D006470
xref: MIM:614009 "phenotype"
[Term]
id: DI-03259
name: Craniosynostosis and dental anomalies
def: "A disorder characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly." []
synonym: "Kreiborg-Pakistani syndrome" [UniProt]
xref: MedGen:C3280073
xref: MeSH:D003398
xref: MIM:614188 "phenotype"
[Term]
id: DI-03261
name: Craniofacial anomalies and anterior segment dysgenesis syndrome
def: "A disorder with extremely variable expressivity. Clinical features include wide interpupillary distance, abnormal corneal endothelium, unusual pinnae, partially to completely empty sella turcica, posterior fossa cyst, anterior encephalocele, and/or hydrocephalus." []
xref: MedGen:C1857964
xref: MedGen:C3280099
xref: MeSH:D019465
xref: MIM:614195 "phenotype"
[Term]
id: DI-03262
name: Psoriasis 14, pustular
def: "A life-threatening disease defined by repeated flares of sudden onset consisting of diffuse erythematous skin eruption characterized by rapid coverage with pustules, high-grade fever, asthenia, marked leukocytosis, and elevated serum levels of C-reactive protein." []
synonym: "Acrodermatitis continua of Hallopeau" [UniProt]
synonym: "DITRA" [UniProt]
synonym: "Generalized pustular psoriasis" [UniProt]
synonym: "GPP" [UniProt]
synonym: "Interleukin 36 receptor antagonist deficiency" [UniProt]
synonym: "Palmoplantar pustulosis" [UniProt]
synonym: "PSORP" [UniProt]
xref: MedGen:C0343055
xref: MedGen:CN078797
xref: MeSH:D011565
xref: MIM:614204 "phenotype"
[Term]
id: DI-03263
name: Neuropathy, hereditary sensory, 2C
def: "A neurodegenerative disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs." []
synonym: "Hereditary sensory neuropathy type IIC" [UniProt]
synonym: "HSN IICE" [UniProt]
xref: MedGen:C3280168
xref: MeSH:D009477
xref: MIM:614213 "phenotype"
[Term]
id: DI-03264
name: Charcot-Marie-Tooth disease, axonal, 2O
def: "An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy." []
synonym: "Charcot-Marie-Tooth disease axonal autosomal dominant type 2O" [UniProt]
synonym: "Charcot-Marie-Tooth disease axonal type 2O" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy axonal type 2O" [UniProt]
xref: MedGen:C3280220
xref: MeSH:D002607
xref: MIM:614228 "phenotype"
[Term]
id: DI-03265
name: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
def: "An autosomal recessive condition characterized by the bilateral appearance of 'beading' along the major retinal arterial trunks, with the subsequent formation of macroaneurysms. Affected individuals also have supravalvular pulmonic stenosis, often requiring surgical correction." []
xref: MedGen:C3280205
xref: MeSH:D000783
xref: MeSH:D011666
xref: MeSH:D012164
xref: MIM:614224 "phenotype"
[Term]
id: DI-03266
name: N-terminal acetyltransferase deficiency
def: "An enzymatic deficiency resulting in postnatal growth failure with severe delays and dysmorphic features. It is clinically characterized by wrinkled forehead, prominent eyes, widely opened anterior and posterior fontanels, downsloping palpebral fissures, thickened lids, large ears, flared nares, hypoplastic alae, short columella, protruding upper lip, and microretrognathia. There are also delayed closing of fontanels and broad great toes. Skin is characterized by redundancy or laxity with minimal subcutaneous fat, cutaneous capillary malformations, and very fine hair and eyebrows. Death results from cardiogenic shock following arrhythmia." []
synonym: "Ogden syndrome" [UniProt]
synonym: "OGDNS" [UniProt]
xref: MedGen:C3275447
xref: MedGen:CN078801
xref: MeSH:D001848
xref: MIM:300855 "phenotype"
[Term]
id: DI-03267
name: Adermatoglyphia
def: "An autosomal dominant condition characterized by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints, and is associated with a reduced number of sweat gland openings and reduced sweating of palms and soles." []
synonym: "Absence of fingerprints" [UniProt]
synonym: "Immigration delay disease" [UniProt]
xref: MedGen:C1851080
xref: MedGen:C1852150
xref: MeSH:D012868
xref: MIM:136000 "phenotype"
[Term]
id: DI-03268
name: KBG syndrome
def: "A syndrome characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, seizures, and intellectual disability." []
xref: MedGen:C0220687
xref: MeSH:D001848
xref: MeSH:D008607
xref: MeSH:D014071
xref: MIM:148050 "phenotype"
[Term]
id: DI-03269
name: Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects
def: "An autosomal recessive disease characterized by dysmorphic facies, bilateral dislocations of the elbows, hips, and knees, clubfeet, and short stature, as well as cardiovascular defects." []
synonym: "Autosomal recessive Larsen syndrome" [UniProt]
synonym: "Larsen-like syndrome" [UniProt]
synonym: "Larsen-like syndrome B3GAT3 type" [UniProt]
xref: MedGen:C1855536
xref: MedGen:C3278404
xref: MeSH:D000015
xref: MeSH:D004204
xref: MIM:245600 "phenotype"
[Term]
id: DI-03271
name: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
def: "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Patients with ALS15 may develop frontotemporal dementia." []
xref: MedGen:C3275459
xref: MeSH:D000690
xref: MIM:300857 "phenotype"
[Term]
id: DI-03272
name: Encephalopathy, acute, infection-induced, 4
def: "A severe neurologic complication of an infection. It manifests within days in otherwise healthy children after common viral infections, without evidence of viral infection of the brain or inflammatory cell infiltration. In affected children, high-grade fever is accompanied within 12 to 48 hours by febrile convulsions, often leading to coma, multiple-organ failure, brain edema, and high morbidity and mortality. The infections are usually viral, particularly influenza, although other viruses and even mycoplasma have been found to cause the disorder." []
synonym: "Encephalopathy acute infection-induced 4" [UniProt]
xref: MedGen:C3280160
xref: MeSH:D018792
xref: MIM:614212 "phenotype"
[Term]
id: DI-03273
name: Microcephaly, epilepsy, and diabetes syndrome 1
def: "An autosomal recessive disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes." []
xref: MedGen:C3280240
xref: MeSH:D003920
xref: MeSH:D004827
xref: MeSH:D008831
xref: MIM:614231 "phenotype"
[Term]
id: DI-03274
name: Parkinson disease 18
def: "An autosomal dominant, late-onset form of Parkinson disease. Parkinson disease is a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain." []
synonym: "Parkinson disease 18 autosomal dominant" [UniProt]
synonym: "Parkinson disease 18, autosomal dominant, susceptibility to" [UniProt]
xref: MedGen:C3280271
xref: MeSH:D010300
xref: MIM:614251 "phenotype"
[Term]
id: DI-03276
name: Barrett esophagus
def: "A condition characterized by a metaplastic change in which normal esophageal squamous epithelium is replaced by a columnar and intestinal-type epithelium. Patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The main cause of Barrett esophagus is gastroesophageal reflux. The retrograde movement of acid and bile salts from the stomach into the esophagus causes prolonged injury to the esophageal epithelium and induces chronic esophagitis, which in turn is believed to trigger the pathologic changes." []
synonym: "Barrett metaplasia" [UniProt]
xref: MedGen:C0004763
xref: MedGen:C0279628
xref: MeSH:D001471
xref: MIM:614266 "phenotype"
[Term]
id: DI-03277
name: Persistent hyperplastic primary vitreous, autosomal recessive
def: "A developmental eye malformation associated with microphthalmia, cataract, glaucoma, and congenital retinal non-attachment. It is due to failure of the primary vitreous to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. Disease manifestations range from a trivial remnant of hyaloid vessels to a dense fibrovascular mass causing lens opacity and retinal detachment." []
synonym: "Congenital non-syndromic retinal non-attachment" [UniProt]
synonym: "NCRNA" [UniProt]
synonym: "Persistent fetal vasculature" [UniProt]
synonym: "Retinal detachment congenital" [UniProt]
synonym: "Retinal non-attachment and falciform detachment" [UniProt]
synonym: "RNANC" [UniProt]
xref: MedGen:C1857299
xref: MeSH:D012163
xref: MIM:221900 "phenotype"
[Term]
id: DI-03278
name: Van der Woude syndrome 2
def: "An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate." []
xref: MedGen:C1847604
xref: MeSH:D002971
xref: MeSH:D002972
xref: MIM:606713 "phenotype"
[Term]
id: DI-03279
name: 46,XY sex reversal 8
def: "A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females." []
synonym: "Male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase" [UniProt]
synonym: "TDD" [UniProt]
xref: MedGen:C1839840
xref: MeSH:D006061
xref: MIM:614279 "phenotype"
[Term]
id: DI-03280
name: Stickler syndrome 5
def: "An autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. STL5 is characterized by high myopia, vitreoretinal degeneration, retinal detachment, mild to moderate sensorineural hearing loss, short stature in childhood, and absence of cleft palate and Pierre Robin sequence." []
xref: MedGen:C3280342
xref: MedGen:CN116437
xref: MeSH:D003240
xref: MeSH:D005128
xref: MeSH:D034381
xref: MIM:614284 "phenotype"
[Term]
id: DI-03281
name: Pancreatic cancer 4
def: "A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue." []
xref: MedGen:C3280442
xref: MedGen:CN071477
xref: MeSH:D010190
xref: MIM:614320 "phenotype"
[Term]
id: DI-03282
name: Sclerosteosis 2
def: "A sclerosing bone dysplasia characterized by a generalized hyperostosis and sclerosis leading to a markedly thickened skull, with mandible, ribs, clavicles and all long bones also being affected. Due to narrowing of the foramina of the cranial nerves, facial nerve palsy, hearing loss and atrophy of the optic nerves can occur. Sclerosteosis is clinically and radiologically very similar to van Buchem disease, mainly differentiated by hand malformations and a large stature in sclerosteosis patients." []
xref: MedGen:C3280402
xref: MeSH:D015576
xref: MIM:614305 "phenotype"
[Term]
id: DI-03283
name: Feingold syndrome 2
def: "A syndrome characterized by microcephaly, short stature, and digital abnormalities including brachydactyly, brachymesophalangy of the second and fifth fingers, hypoplastic thumbs of variable severity, and cutaneous syndactyly of the toes." []
synonym: "Brachydactyly with short stature and microcephaly" [UniProt]
xref: MedGen:C3280489
xref: MeSH:D008831
xref: MeSH:D017880
xref: MIM:614326 "phenotype"
[Term]
id: DI-03284
name: Neurodegeneration with brain iron accumulation 4
def: "A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA4 results in speech difficulty, extrapyramidal signs, oromandibular and generalized dystonia, and parkinsonism. Most patients have progressive involvement of the corticospinal tract, with spasticity, hyperreflexia, and extensor plantar responses." []
synonym: "Mitochondrial membrane protein associated neurodegeneration" [UniProt]
synonym: "MPAN" [UniProt]
xref: MedGen:C3280371
xref: MeSH:D001480
xref: MeSH:D019150
xref: MeSH:D019189
xref: MIM:614298 "phenotype"
[Term]
id: DI-03285
name: Intellectual developmental disorder, X-linked, syndromic, Nascimento-type
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSN features include dysmorphic facies, hirsutism, skin and nails abnormalities, obesity, speech anomalies and seizures." []
synonym: "MRXS30" [UniProt]
xref: MedGen:C3275464
xref: MeSH:D038901
xref: MIM:300860 "phenotype"
[Term]
id: DI-03286
name: Atopic hypersensitivity
def: "A condition characterized by predisposition to develop hypersensitivity reactions. Atopic individuals can develop eczema, allergic rhinitis and allergic asthma." []
synonym: "Atopy" [UniProt]
xref: MedGen:C0020523
xref: MedGen:C0236175
xref: MedGen:C1840253
xref: MedGen:C1840254
xref: MeSH:D006969
xref: MIM:147050 "phenotype"
[Term]
id: DI-03287
name: Ovarian dysgenesis 3
def: "A disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads." []
xref: MedGen:C3280471
xref: MeSH:D023961
xref: MIM:614324 "phenotype"
[Term]
id: DI-03288
name: Breast-ovarian cancer, familial, 4
def: "A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate." []
synonym: "Breast cancer familial 4" [UniProt]
synonym: "Ovarian cancer familial 4" [UniProt]
xref: MedGen:C3280345
xref: MedGen:CN117842
xref: MeSH:D001943
xref: MeSH:D010051
xref: MIM:614291 "phenotype"
[Term]
id: DI-03289
name: Myopia, high, with cataract and vitreoretinal degeneration
def: "A disorder characterized by severe myopia with variable expressivity of cataract and vitreoretinal degeneration. Some patients manifest lens subluxation, lens instability and retinal detachment." []
xref: MedGen:C3280346
xref: MeSH:D009216
xref: MIM:614292 "phenotype"
[Term]
id: DI-03290
name: Hydatidiform mole, recurrent, 2
def: "A disorder characterized by excessive trophoblast development that produces a growing mass of tissue inside the uterus at the beginning of a pregnancy. It leads to abnormal pregnancies with no embryo, and cystic degeneration of the chorionic villi." []
synonym: "Hydatidiform mole complete" [UniProt]
xref: MedGen:C0678213
xref: MeSH:D006828
xref: MIM:614293 "phenotype"
[Term]
id: DI-03291
name: Myelodysplastic syndrome
def: "A heterogeneous group of closely related clonal hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA), refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of patients that often progresses to acute myeloid leukemia (AML)." []
xref: MedGen:C3463824
xref: MeSH:D009190
xref: MIM:614286 "phenotype"
[Term]
id: DI-03292
name: Wolfram-like syndrome autosomal dominant
def: "A disease characterized by the clinical triad of congenital progressive hearing impairment, diabetes mellitus, and optic atrophy. The hearing impairment, which is usually diagnosed in the first decade of life, is relatively constant and alters mainly low- and middle- frequency ranges." []
synonym: "Hearing loss progressive with optic atrophy and/or impaired glucose regulation" [UniProt]
xref: MedGen:C3280358
xref: MeSH:D014929
xref: MIM:614296 "phenotype"
[Term]
id: DI-03293
name: Multiple mitochondrial dysfunctions syndrome 1
def: "A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2- oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes." []
synonym: "MMDS" [UniProt]
xref: MedGen:C1854052
xref: MedGen:C3276432
xref: MeSH:D028361
xref: MIM:605711 "phenotype"
[Term]
id: DI-03294
name: Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia
def: "A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2- oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes." []
xref: MedGen:C3280378
xref: MeSH:D028361
xref: MIM:614299 "phenotype"
[Term]
id: DI-03295
name: Hypermethioninemia due to adenosine kinase deficiency
def: "A metabolic disorder characterized by global developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine. Homocysteine levels are typically normal." []
synonym: "MRT8" [UniProt]
xref: MedGen:C3280381
xref: MeSH:D000592
xref: MIM:614300 "phenotype"
[Term]
id: DI-03296
name: Cognitive impairment with or without cerebellar ataxia
def: "A disorder characterized by markedly delayed cognitive and motor development, attention deficit disorder, and cerebellar ataxia. Features include bilateral esophoria, strabismatic amblyopia, unsustained gaze evoked nystagmus on horizontal gaze, ataxic gait, dysmetria in the upper limbs and dysarthria, with normal strength, tone, and reflexes." []
xref: MedGen:C3280415
xref: MeSH:D019954
xref: MIM:614306 "phenotype"
[Term]
id: DI-03297
name: Myopathy, distal, Tateyama type
def: "A disorder characterized by progressive muscular atrophy and muscle weakness beginning in the hands, the legs, or the feet. Muscle atrophy may be restricted to the small muscles of the hands and feet." []
xref: MedGen:C3280443
xref: MedGen:CN118020
xref: MeSH:D049310
xref: MIM:614321 "phenotype"
[Term]
id: DI-03298
name: Peeling skin syndrome 4
def: "A genodermatosis characterized by congenital exfoliative ichthyosis, sharing some features with ichthyosis bullosa of Siemens and annular epidermolytic ichthyosis. PSS4 presents shortly after birth as dry, scaly skin over most of the body with coarse peeling of non- erythematous skin on the palms and soles, which is exacerbated by excessive moisture and minor trauma. Electron microscopy analysis of skin biopsies, reveals mostly normal-appearing upper layers of the epidermis, but prominent intercellular edema of the basal and suprabasal cell layers with aggregates of tonofilaments in the basal keratinocytes." []
synonym: "AREI" [UniProt]
synonym: "Exfoliative ichthyosis autosomal recessive IBS-like" [UniProt]
synonym: "Exfoliative ichthyosis, autosomal recessive" [UniProt]
synonym: "Ichthyosis, exfoliative, autosomal recessive, ichthyosis bullosa of Siemens-like" [UniProt]
xref: MedGen:C1842797
xref: MeSH:D007057
xref: MIM:607936 "phenotype"
[Term]
id: DI-03299
name: Lymphedema, primary, with myelodysplasia
def: "A chronic disabling condition characterized by swelling of the extremities due to altered lymphatic flow, associated with myelodysplasia. Patients with lymphedema suffer from recurrent local infections, and physical impairment." []
synonym: "Emberger syndrome" [UniProt]
xref: MedGen:C3279664
xref: MeSH:D008209
xref: MIM:614038 "phenotype"
[Term]
id: DI-03300
name: Pitt-Hopkins-like syndrome 1
def: "A syndrome characterized by severe intellectual disability and variable additional symptoms, such as impaired speech development, seizures, autistic behavior, breathing anomalies and a broad mouth, resembling Pitt-Hopkins syndrome. In contrast to patients with Pitt- Hopkins syndrome, PTHSL1 patients present with normal or only mildly to moderately delayed motor milestones." []
synonym: "MeSH; D006985" [UniProt]
synonym: "MeSH; D008607" [UniProt]
xref: MedGen:C2750246
xref: MIM:610042 "phenotype"
[Term]
id: DI-03301
name: Pitt-Hopkins-like syndrome 2
def: "A syndrome characterized by severe intellectual disability and variable additional symptoms, such as impaired speech development, autistic behavior, breathing anomalies and a broad mouth, resembling Pitt-Hopkins syndrome. Other features include decreased reflexes in the upper extremities, constipation, strabismus, and protruding tongue with drooling. In contrast to patients with Pitt-Hopkins syndrome, PTHSL2 patients present with normal or only mildly to moderately delayed motor milestones." []
synonym: "MeSH; D006985" [UniProt]
synonym: "MeSH; D008607" [UniProt]
xref: MedGen:C3280479
xref: MIM:614325 "phenotype"
[Term]
id: DI-03302
name: Arthrogryposis, distal, 1B
def: "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected." []
xref: MedGen:C3280526
xref: MedGen:CN118811
xref: MeSH:D001176
xref: MIM:614335 "phenotype"
[Term]
id: DI-03303
name: Schizophrenia 17
def: "A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder." []
synonym: "Schizophrenia susceptibility locus chromosome 2p16-related" [UniProt]
xref: MedGen:C3280524
xref: MeSH:D012559
xref: MIM:614332 "phenotype"
[Term]
id: DI-03304
name: Tumor predisposition syndrome 1
def: "An autosomal dominant condition characterized by predisposition to develop a variety of tumors, including benign melanocytic tumors as well as several malignant tumors, including uveal melanoma, cutaneous melanoma, malignant mesothelioma on exposure to asbestos, lung adenocarcinoma and meningioma." []
xref: MedGen:C3280492
xref: MeSH:D009386
xref: MIM:614327 "phenotype"
[Term]
id: DI-03305
name: Hypoinsulinemic hypoglycemia with hemihypertrophy
def: "A disorder characterized by hypoglycemia, low insulin levels, low serum levels of ketone bodies and branched-chain amino acids, left- sided hemihypertrophy, neonatal macrosomia, reduced consciousness and hypoglycemic seizures." []
xref: MedGen:C3278384
xref: MeSH:D007003
xref: MIM:240900 "phenotype"
[Term]
id: DI-03306
name: Inflammatory skin and bowel disease, neonatal, 1
def: "A disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. The skin lesions involve perioral and perianal erythema, psoriasiform erythroderma, with flares of erythema, scaling, and widespread pustules. Gastrointestinal symptoms include malabsorptive diarrhea that is exacerbated by intercurrent gastrointestinal infections. The hair is short or broken, and the eyelashes and eyebrows are wiry and disorganized." []
xref: MedGen:C3280501
xref: MeSH:D012873
xref: MeSH:D015212
xref: MIM:614328 "phenotype"
[Term]
id: DI-03307
name: Epilepsy, childhood absence 6
def: "A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic- clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood." []
xref: MedGen:C2749872
xref: MeSH:D004832
xref: MIM:611942 "phenotype"
[Term]
id: DI-03308
name: Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
def: "An autosomal recessive neurodegenerative disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism." []
synonym: "4H leukodystrophy 2" [UniProt]
synonym: "Cerebellar hypoplasia with endosteal sclerosis" [UniProt]
xref: MedGen:C3280644
xref: MedGen:CN119427
xref: MeSH:D020279
xref: MIM:614381 "phenotype"
[Term]
id: DI-03309
name: Episodic kinesigenic dyskinesia 1
def: "An autosomal dominant form of paroxysmal kinesigenic dyskinesia, a neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements, triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis." []
synonym: "Dystonia 10" [UniProt]
synonym: "DYT10" [UniProt]
synonym: "Familial paroxysmal dystonia" [UniProt]
synonym: "Paroxysmal kinesigenic choreoathetosis" [UniProt]
synonym: "Paroxysmal kinesigenic dyskinesia" [UniProt]
synonym: "PKC" [UniProt]
synonym: "PKD" [UniProt]
xref: MedGen:C1868682
xref: MeSH:D004421
xref: MIM:128200 "phenotype"
[Term]
id: DI-03310
name: Cutis laxa, autosomal recessive, 3A
def: "A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental delay, and ophthalmologic abnormalities." []
synonym: "Cutis laxa autosomal recessive type IIIA" [UniProt]
synonym: "De Barsy syndrome" [UniProt]
synonym: "De Barsy syndrome A" [UniProt]
synonym: "Developmental delay-choreoathetosis-joint dislocation-lax skin" [UniProt]
synonym: "Neurocutaneous syndrome Bicknell type" [UniProt]
synonym: "Progeroid syndrome of De Barsy" [UniProt]
xref: MedGen:C0268354
xref: MeSH:D003318
xref: MeSH:D003483
xref: MeSH:D008607
xref: MIM:219150 "phenotype"
[Term]
id: DI-03311
name: Ohdo syndrome, SBBYS variant
def: "A syndrome characterized by distinctive facial appearance with severe blepharophimosis, an immobile mask-like face, a bulbous nasal tip, and a small mouth with a thin upper lip. The condition presents in infancy with severe hypotonia and feeding problems. Associated skeletal problems include joint laxity, abnormally long thumbs and great toes, and dislocated or hypoplastic patellae. Structural cardiac defects are present in around 50% of cases, and dental anomalies, including small and pointed teeth, are common. Optic atrophy and conductive or sensorineural deafness are repeatedly reported. Many affected individuals have abnormalities of thyroid structure or function. SBBYSS is usually associated with severe intellectual disability, delayed motor milestones, and significantly impaired speech." []
synonym: "Say-Barber-Biesecker variant of Ohdo syndrome" [UniProt]
synonym: "Say-Barber-Biesecker-Young-Simpson syndrome" [UniProt]
synonym: "Young-Simpson syndrome" [UniProt]
synonym: "YSS" [UniProt]
xref: MedGen:C1863557
xref: MeSH:D000015
xref: MeSH:D008607
xref: MeSH:D016569
xref: MIM:603736 "phenotype"
[Term]
id: DI-03312
name: Prune belly syndrome
def: "A syndrome characterized by thin abdominal musculature with overlying lax skin, cryptorchism, megacystis with disorganized detrusor muscle, and urinary tract abnormalities." []
synonym: "Abdominal muscle deficiency syndrome" [UniProt]
synonym: "Absence of abdominal muscles with urinary tract abnormality and cryptorchidism" [UniProt]
synonym: "Eagle-Barrett syndrome" [UniProt]
synonym: "EGBRS" [UniProt]
xref: MedGen:C0033770
xref: MeSH:D011535
xref: MIM:100100 "phenotype"
[Term]
id: DI-03313
name: Joubert syndrome 14
def: "An autosomal recessive disorder characterized by severe intellectual disability, hypotonia, breathing abnormalities in infancy, and dysmorphic facial features. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include renal disease, abnormal eye movements, and postaxial polydactyly." []
xref: MedGen:C3280766
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:614424 "phenotype"
[Term]
id: DI-03314
name: Joubert syndrome 15
def: "An autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis and polydactyly." []
xref: MedGen:C3280897
xref: MedGen:C3280898
xref: MedGen:C3280899
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:614464 "phenotype"
[Term]
id: DI-03315
name: Joubert syndrome 16
def: "An autosomal recessive disorder characterized by oculomotor apraxia, variable coloboma, and rare kidney involvement. Neuroradiologically, it is characterized by an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and polydactyly." []
xref: MedGen:C3280906
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:614465 "phenotype"
[Term]
id: DI-03316
name: Aural atresia, congenital
def: "A rare anomaly of the ear that involves some degree of failure of the development of the external auditory canal. The malformation can also involve the tympanic membrane, ossicles and middle ear space. The inner ear development is most often normal. Different CAA forms are known. CAA type I is characterized by bony or fibrous atresia of the lateral part of the external auditory canal and an almost normal medial part and middle ear. CAA type II is the most frequent type and is characterized by partial or total aplasia of the external auditory canal. CAA type IIA involves an external auditory canal with either complete bony atresia of the medial part or partial aplasia that ends blindly in a fistula leading to a rudimentary tympanic membrane. CAA type IIB is characterized by bony stenosis of the total length of the external auditory canal. CAA type III involves bony atresia of the external auditory canal and a very small or absent middle-ear cavity." []
synonym: "Aural atresia, congenital, with hyposmia" [UniProt]
xref: MedGen:C1842937
xref: MeSH:D006314
xref: MIM:607842 "phenotype"
[Term]
id: DI-03317
name: Cutis laxa, autosomal dominant, 2
def: "A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema." []
xref: MedGen:C3280794
xref: MeSH:D003483
xref: MIM:614434 "phenotype"
[Term]
id: DI-03318
name: Cutis laxa, autosomal recessive, 1B
def: "A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. ARCL1B features include emphysema, lethal pulmonary artery occlusion, aortic aneurysm, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels." []
synonym: "Cutis laxa autosomal recessive type IB" [UniProt]
xref: MedGen:C3280798
xref: MedGen:CN120647
xref: MeSH:D003483
xref: MIM:614437 "phenotype"
[Term]
id: DI-03319
name: Cutis laxa, autosomal recessive, 3B
def: "A disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation, and cutis laxa." []
synonym: "Cutis laxa autosomal recessive type IIIB" [UniProt]
synonym: "De Barsy syndrome B" [UniProt]
xref: MedGen:C3280799
xref: MedGen:CN120648
xref: MeSH:D003483
xref: MIM:614438 "phenotype"
[Term]
id: DI-03320
name: Peripheral neuropathy, myopathy, hoarseness, and hearing loss
def: "A complex phenotype of progressive peripheral neuropathy and distal myopathy, with later onset of hoarseness and hearing loss. Affected individuals develop distal muscle weakness at a mean age of 10.6 years, followed by progressive atrophy of these muscles. The lower limbs are more severely affected than the upper limbs, and the muscle weakness first affects anterior leg muscles and later posterior leg muscles." []
xref: MedGen:C3280556
xref: MeSH:D010523
xref: MIM:614369 "phenotype"
[Term]
id: DI-03321
name: Complement component 4B deficiency
def: "A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus with or without associated glomerulonephritis." []
synonym: "C4B deficiency" [UniProt]
xref: MedGen:C3280641
xref: MeSH:D007105
xref: MIM:614379 "phenotype"
[Term]
id: DI-03322
name: Pulmonary surfactant metabolism dysfunction 5
def: "A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress." []
synonym: "CSF2RB deficiency" [UniProt]
synonym: "PAP due to CSF2RB deficiency" [UniProt]
synonym: "PAP5" [UniProt]
synonym: "Pulmonary alveolar proteinosis 5" [UniProt]
xref: MedGen:C3280574
xref: MeSH:D011649
xref: MIM:614370 "phenotype"
[Term]
id: DI-03324
name: Amyotrophic lateral sclerosis 16, juvenile
def: "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases." []
xref: MedGen:C3280587
xref: MeSH:D000690
xref: MIM:614373 "phenotype"
[Term]
id: DI-03325
name: Short-rib thoracic dysplasia 5 with or without polydactyly
def: "A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome." []
synonym: "Asphyxiating thoracic dystrophy 5" [UniProt]
synonym: "ATD5" [UniProt]
synonym: "JATD" [UniProt]
synonym: "Jeune asphyxiating thoracic dystrophy" [UniProt]
synonym: "Jeune syndrome 5" [UniProt]
xref: MedGen:C3280598
xref: MeSH:D012779
xref: MIM:614376 "phenotype"
[Term]
id: DI-03326
name: Nephronophthisis 13
def: "An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts." []
xref: MedGen:C3280612
xref: MeSH:D052177
xref: MIM:614377 "phenotype"
[Term]
id: DI-03327
name: Cranioectodermal dysplasia 4
def: "A disorder primarily characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described." []
synonym: "Sensenbrenner syndrome 4" [UniProt]
xref: MedGen:C3280616
xref: MeSH:D004476
xref: MIM:614378 "phenotype"
[Term]
id: DI-03328
name: 46,XY sex reversal 4
def: "A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. Patients display complete or partial gonadal dysgenesis and a chromosome 9p deletion." []
synonym: "46,XY gonadal dysgenesis complete or partial with 9p24.3 deletion" [UniProt]
synonym: "Chromosome 9p24.3 deletion syndrome" [UniProt]
xref: MedGen:C2752149
xref: MeSH:D006061
xref: MIM:154230 "phenotype"
[Term]
id: DI-03329
name: Ventricular septal defect 1
def: "A common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death." []
xref: MedGen:C3280777
xref: MeSH:D006345
xref: MIM:614429 "phenotype"
[Term]
id: DI-03330
name: Ventricular septal defect 2
def: "A common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death." []
xref: MedGen:C3280783
xref: MeSH:D006345
xref: MIM:614431 "phenotype"
[Term]
id: DI-03331
name: Ventricular septal defect 3
def: "A common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death." []
xref: MedGen:C3280785
xref: MeSH:D006345
xref: MIM:614432 "phenotype"
[Term]
id: DI-03332
name: Atrioventricular septal defect 4
def: "A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction." []
xref: MedGen:C3280781
xref: MeSH:D004694
xref: MIM:614430 "phenotype"
[Term]
id: DI-03333
name: Atrial septal defect 8
def: "A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria." []
xref: MedGen:C3280790
xref: MeSH:D006344
xref: MIM:614433 "phenotype"
[Term]
id: DI-03334
name: Systemic lupus erythematosus 16
def: "A rare autosomal recessive form of systemic lupus erythematosus with childhood onset, characterized by high frequency of anti-neutrophil cytoplasmic antibodies and lupus nephritis. Systemic lupus erythematosus is a chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow." []
xref: MedGen:C3280742
xref: MeSH:D008180
xref: MIM:614420 "phenotype"
[Term]
id: DI-03335
name: Febrile seizures, familial, 11
def: "Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy." []
synonym: "Familial febrile convulsions 11" [UniProt]
xref: MedGen:C3280734
xref: MeSH:D003294
xref: MIM:614418 "phenotype"
[Term]
id: DI-03336
name: Epilepsy, familial temporal lobe, 5
def: "A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature." []
xref: MedGen:C3280730
xref: MeSH:D004833
xref: MIM:614417 "phenotype"
[Term]
id: DI-03337
name: Kabuki syndrome 2
def: "A congenital intellectual disability syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy." []
xref: MedGen:C3275495
xref: MeSH:D000015
xref: MIM:300867 "phenotype"
[Term]
id: DI-03338
name: Chilblain lupus 2
def: "A rare cutaneous form of lupus erythematosus. Affected individuals present with painful bluish-red papular or nodular lesions of the skin in acral locations precipitated by cold and wet exposure." []
xref: MedGen:C3280721
xref: MeSH:D008178
xref: MIM:614415 "phenotype"
[Term]
id: DI-03339
name: Charcot-Marie-Tooth disease, axonal, 2P
def: "An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy." []
synonym: "Charcot-Marie-Tooth disease axonal type 2P" [UniProt]
synonym: "Charcot-Marie-Tooth disease, axonal type 2G" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy axonal type 2P" [UniProt]
synonym: "CMT2G" [UniProt]
xref: MedGen:C3280797
xref: MedGen:CN120583
xref: MeSH:D002607
xref: MIM:614436 "phenotype"
[Term]
id: DI-03340
name: Charcot-Marie-Tooth disease, dominant intermediate E
def: "A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type E is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. Patients additionally manifest focal segmental glomerulonephritis, proteinuria, progression to end- stage renal disease, and a characteristic histologic pattern on renal biopsy." []
synonym: "Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis" [UniProt]
xref: MedGen:C3280845
xref: MeSH:D002607
xref: MIM:614455 "phenotype"
[Term]
id: DI-03341
name: Melanoma, cutaneous malignant 8
def: "A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but may also involve other sites." []
synonym: "Cutaneous malignant melanoma 8" [UniProt]
synonym: "Susceptibility to melanoma and renal cell carcinoma" [UniProt]
xref: MedGen:C3152204
xref: MeSH:D008545
xref: MIM:614456 "phenotype"
[Term]
id: DI-03342
name: Hypoplastic left heart syndrome 2
def: "A syndrome due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged." []
xref: MedGen:C3280795
xref: MeSH:D018636
xref: MIM:614435 "phenotype"
[Term]
id: DI-03343
name: Hypothyroidism, congenital, non-goitrous, 6
def: "A disease characterized by growth retardation, developmental retardation, skeletal dysplasia, borderline low thyroxine levels and high triiodothyronine levels. There is differential sensitivity to thyroid hormone action, with retention of hormone responsiveness in the hypothalamic pituitary axis and liver but skeletal, gastrointestinal, and myocardial resistance." []
xref: MedGen:C3280817
xref: MeSH:D003409
xref: MIM:614450 "phenotype"
[Term]
id: DI-03345
name: PHOAR2-enteropathy syndrome
def: "An autosomal recessive disease characterized by primary hypertrophic osteoarthropathy and/or chronic non-specific ulcers of the small intestine. Affected individuals present with digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and variable features of pachydermia that include thickened facial skin and a thickened scalp. Chronic ulcers of the small intestine result in abdominal pain and watery diarrhea, and are associated with chronic anemia. Other developmental anomalies include delayed closure of the cranial sutures and congenital heart disease." []
synonym: "Hypertrophic osteoarthropathy, primary, autosomal recessive, 2" [UniProt]
synonym: "Hypertrophic osteoarthropathy, primary, autosomal recessive, 2/enteropathy syndrome" [UniProt]
synonym: "Pachydermoperiostosis, autosomal recessive" [UniProt]
synonym: "PDP, autosomal recessive" [UniProt]
synonym: "PHOAR2" [UniProt]
xref: MedGen:C3280800
xref: MedGen:CN120637
xref: MeSH:D010004
xref: MIM:614441 "phenotype"
[Term]
id: DI-03346
name: Coronary heart disease 6
def: "A multifactorial disease characterized by an imbalance between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood flow. Decreased capacity of the coronary vessels is often associated with thickening and loss of elasticity of the coronary arteries." []
xref: MedGen:C3280913
xref: MeSH:D003324
xref: MIM:614466 "phenotype"
[Term]
id: DI-03347
name: Dentin dysplasia 1
def: "A dental defect in which both primary and secondary dentitions are affected. The clinical crowns of both permanent and deciduous teeth are of normal shape, form and color in most cases, although they may be slightly opalescent and blue or brown. Teeth may be very mobile and exfoliate spontaneously because of inadequate root formation. On radiographs, the roots are short and may be more pointed than normal. Pulp chambers are usually absent except for a chevron-shaped remnant in the crown. Root canals are usually absent." []
synonym: "Dentin dysplasia Shields type I" [UniProt]
synonym: "Radicular dentin dysplasia" [UniProt]
synonym: "Rootless teeth" [UniProt]
xref: MedGen:C0399379
xref: MeSH:D003784
xref: MeSH:D003805
xref: MIM:125400 "phenotype"
[Term]
id: DI-03348
name: Dentin dysplasia 1, with extreme microdontia and misshapen teeth
def: "A complex dental malformation characterized by extreme microdontia, oligodontia, dental shape anomalies affecting both primary and permanent teeth, double permanent-tooth formation, thin enamel, and very short roots with a thin associated alveolar bone, as seen in the spectrum of dentin dysplasia type 1." []
synonym: "Dentin dysplasia Shields type I" [UniProt]
synonym: "Radicular dentin dysplasia" [UniProt]
synonym: "Rootless teeth" [UniProt]
xref: MedGen:C3276551
xref: MeSH:D003805
xref: MIM:125400 "phenotype"
[Term]
id: DI-03349
name: Myhre syndrome
def: "An autosomal dominant syndrome characterized by pre- and postnatal growth deficiency, intellectual disability, generalized muscle hypertrophy and striking muscular build, decreased joint mobility, cryptorchidism, and unusual facies. Dysmorphic facial features include microcephaly, midface hypoplasia, prognathism, and blepharophimosis. Typical skeletal anomalies are short stature, square body shape, broad ribs, iliac hypoplasia, brachydactyly, flattened vertebrae, and thickened calvaria. Other features, such as congenital heart disease, may also occur." []
synonym: "Growth-mental deficiency syndrome of Myhre" [UniProt]
synonym: "LAPS syndrome" [UniProt]
synonym: "Laryngotracheal stenosis, arthropathy, prognathism, and short stature" [UniProt]
xref: MedGen:C0796081
xref: MeSH:D006130
xref: MeSH:D008607
xref: MIM:139210 "phenotype"
[Term]
id: DI-03350
name: Pregnancy loss, recurrent, 1
def: "A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions." []
synonym: "Recurrent embryonic loss" [UniProt]
synonym: "Recurrent fetal loss" [UniProt]
synonym: "Recurrent miscarriage" [UniProt]
synonym: "Recurrent stillbirth" [UniProt]
synonym: "RPL" [UniProt]
synonym: "RPRGL" [UniProt]
synonym: "Spontaneous recurrent abortion" [UniProt]
xref: MedGen:C3280670
xref: MeSH:D000026
xref: MIM:614389 "phenotype"
[Term]
id: DI-03351
name: Pregnancy loss, recurrent, 2
def: "A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions." []
xref: MedGen:C3280672
xref: MeSH:D000026
xref: MIM:614390 "phenotype"
[Term]
id: DI-03352
name: Pregnancy loss, recurrent, 3
def: "A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions." []
xref: MedGen:C3280674
xref: MeSH:D000026
xref: MIM:614391 "phenotype"
[Term]
id: DI-03353
name: Seckel syndrome 2
def: "A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability." []
synonym: "Bird-headed dwarfism 2" [UniProt]
synonym: "Microcephalic primordial dwarfism 2" [UniProt]
synonym: "Seckel-type dwarfism 2" [UniProt]
xref: MedGen:C1847572
xref: MeSH:D004392
xref: MeSH:D008831
xref: MIM:606744 "phenotype"
[Term]
id: DI-03354
name: Jawad syndrome
def: "A syndrome characterized by congenital microcephaly, moderately severe intellectual disability, and symmetrical digital anomalies. Digital malformations of variable degree include hallux valgus, syndactyly of toes 4 and 5, short fifth fingers, single flexion crease of fifth fingers, polydactyly and synpolydactyly." []
synonym: "Kelly syndrome" [UniProt]
xref: MedGen:C2673414
xref: MeSH:D008831
xref: MeSH:D017880
xref: MIM:251255 "phenotype"
[Term]
id: DI-03355
name: Cone-rod dystrophy 16
def: "An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors." []
synonym: "Retinal dystrophy with early macular involvement" [UniProt]
xref: MedGen:C3281045
xref: MeSH:D000071700
xref: MIM:614500 "phenotype"
[Term]
id: DI-03356
name: Retinitis pigmentosa 64
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C3281046
xref: MedGen:CN121949
xref: MeSH:D012174
xref: MIM:614500 "phenotype"
[Term]
id: DI-03357
name: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
def: "A rare autosomal dominant systemic disorder resulting in lack of neurologic development and death in infancy. After birth, infants present in the first week of life with poor feeding and neurologic impairment, including hypotonia, little spontaneous movement, no tendon reflexes, no response to light stimulation, and poor visual fixation. Other features include mildly elevated plasma concentration of very-long-chain fatty acids, lactic acidosis, microcephaly, deep- set eyes, optic atrophy and hypoplasia, and an abnormal gyral pattern in both frontal lobes associated with dysmyelination." []
synonym: "EMPF" [UniProt]
synonym: "Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission" [UniProt]
synonym: "Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission 1" [UniProt]
xref: MedGen:C3280660
xref: MeSH:D000015
xref: MIM:614388 "phenotype"
[Term]
id: DI-03358
name: Congenital myopathy 10A, severe variant
def: "An autosomal recessive congenital myopathy characterized by onset at birth, or early in infancy, of respiratory distress caused by diaphragmatic weakness. Additional features are dysphagia resulting in poor feeding, failure to thrive, poor head control, facial weakness, cleft palate, contractures and scoliosis. Affected individuals become ventilator-dependent, and most require feeding by gastrostomy. The disorder results in severe muscle weakness and most patients never achieve walking. Death from respiratory failure in childhood occurs in about half of patients. Muscle biopsies from affected individuals show myopathic changes, replacement of myofibers with fatty tissue, small and incompletely fused muscle fibers, and variation in fiber size. Short regions of sarcomeric disorganization with few or no mitochondria (minicores) have been observed in some cases." []
synonym: "EMARDD" [UniProt]
synonym: "Myopathy, early-onset, areflexia, respiratory distress, and dysphagia" [UniProt]
xref: MedGen:C3280679
xref: MedGen:C3541476
xref: MedGen:CN119527
xref: MeSH:D009135
xref: MIM:614399 "phenotype"
[Term]
id: DI-03359
name: Fleck retina, familial benign
def: "An autosomal recessive condition associated with a distinctive retinal appearance and no apparent visual or electrophysiologic deficits. Affected individuals are asymptomatic, but fundus examination reveals a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but sparing the foveal region." []
xref: MedGen:C1856718
xref: MeSH:D012164
xref: MIM:228980 "phenotype"
[Term]
id: DI-03360
name: Hyperbilirubinemia, Rotor type
def: "An autosomal recessive form of primary conjugated hyperbilirubinemia. Affected individuals develop mild jaundice not associated with hemolysis shortly after birth or in childhood. They have delayed plasma clearance of the unconjugated anionic dye bromsulphthalein and prominent urinary excretion of coproporphyrin I. Hepatic pigmentation is normal." []
synonym: "Rotor syndrome" [UniProt]
xref: MedGen:C0220991
xref: MeSH:D006932
xref: MIM:237450 "phenotype"
[Term]
id: DI-03361
name: Renal dysplasia, cystic
def: "An anomaly of the kidney characterized by numerous renal cysts and apparent disorder of differentiation of the renal parenchyma. Kidney of affected individuals lack the normal renal bean shape, and the collection drainage system. The cystic, dysplastic kidney contains undifferentiated mesenchyme, cartilaginous tissue, and immature collecting ducts." []
xref: MedGen:C1832471
xref: MedGen:C3275898
xref: MeSH:D021782
xref: MIM:601331 "phenotype"
[Term]
id: DI-03362
name: Ciliary dyskinesia, primary, 2
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome." []
synonym: "ICS2" [UniProt]
synonym: "Immotile cilia syndrome 2" [UniProt]
synonym: "Primary ciliary dyskinesia 2 with or without situs inversus" [UniProt]
xref: MedGen:C1847554
xref: MeSH:D002925
xref: MeSH:D007619
xref: MIM:606763 "phenotype"
[Term]
id: DI-03363
name: Spondyloepimetaphyseal dysplasia with joint laxity, 2
def: "A bone disease characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly. The most distinctive features for differential diagnosis of SEMDJL2 are the slender metacarpals and phalanges and the progressive degeneration of carpal bones; however, these 2 features are evident only in older children and young adults. The soft consistency of cartilage in the airways leads to laryngotracheomalacia with proneness to respiratory obstruction and inspiratory stridor in infancy and childhood." []
synonym: "Lepto-SEMDJL" [UniProt]
synonym: "Spondyloepimetaphyseal dysplasia with joint laxity Hall type" [UniProt]
synonym: "Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic type" [UniProt]
synonym: "Spondyloepimetaphyseal dysplasia with multiple dislocations Hall type" [UniProt]
xref: MedGen:C1863732
xref: MeSH:D010009
xref: MIM:603546 "phenotype"
[Term]
id: DI-03364
name: Kahrizi syndrome
def: "An autosomal recessive neurodevelopmental disorder characterized by intellectual disability, cataracts, coloboma, kyphosis, and coarse facial features." []
xref: MedGen:C2675185
xref: MeSH:D005128
xref: MeSH:D008607
xref: MeSH:D019066
xref: MIM:612713 "phenotype"
[Term]
id: DI-03365
name: Thrombophilia due to protein S deficiency, autosomal recessive
def: "A very rare and severe hematologic disorder resulting in thrombosis and secondary hemorrhage usually beginning in early infancy. Some affected individuals develop neonatal purpura fulminans, multifocal thrombosis, or intracranial hemorrhage." []
xref: MedGen:C3281092
xref: MeSH:D018455
xref: MIM:614514 "phenotype"
[Term]
id: DI-03366
name: Pseudohypoaldosteronism 2D
def: "A disorder characterized by severe hypertension, hyperkalemia, hyperchloremia, hyperchloremic metabolic acidosis, and correction of physiologic abnormalities by thiazide diuretics. PHA2D inheritance is autosomal dominant or recessive." []
xref: MedGen:C3469605
xref: MeSH:D011546
xref: MIM:614495 "phenotype"
[Term]
id: DI-03367
name: Pseudohypoaldosteronism 2E
def: "An autosomal dominant disorder characterized by severe hypertension, hyperkalemia, hyperchloremia, hyperchloremic metabolic acidosis, and correction of physiologic abnormalities by thiazide diuretics." []
xref: MedGen:C3469606
xref: MeSH:D011546
xref: MIM:614496 "phenotype"
[Term]
id: DI-03368
name: Pseudohypoaldosteronism 2B
def: "An autosomal dominant disorder characterized by hypertension, hyperkalemia, hyperchloremia, mild hyperchloremic metabolic acidosis, and correction of physiologic abnormalities by thiazide diuretics." []
xref: MedGen:C1840390
xref: MeSH:D011546
xref: MIM:614491 "phenotype"
[Term]
id: DI-03369
name: Atrioventricular septal defect 5
def: "A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction." []
xref: MedGen:C3280939
xref: MeSH:D004694
xref: MIM:614474 "phenotype"
[Term]
id: DI-03370
name: Atrial septal defect 9
def: "A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Some patients manifest tricuspid valve disease, pulmonary valve disease, and pulmonary artery hypertension." []
xref: MedGen:C3280943
xref: MeSH:D006344
xref: MIM:614475 "phenotype"
[Term]
id: DI-03371
name: Pancreatic agenesis and congenital heart defects
def: "An autosomal dominant disease characterized by pancreatic severe hypoplasia or agenesis, diabetes mellitus, and congenital heart abnormalities including ventricular septal defect, patent ductus arteriosus, pulmonary artery stenosis, truncus arteriosus and tetralogy of Fallot." []
synonym: "Congenital pancreatic agenesis with diabetes mellitus and congenital heart disease" [UniProt]
synonym: "HDCA" [UniProt]
synonym: "Heart defects, congenital, and other congenital anomalies" [UniProt]
xref: MedGen:C1838780
xref: MeSH:D003920
xref: MeSH:D006330
xref: MIM:600001 "phenotype"
[Term]
id: DI-03372
name: Convulsions, familial infantile, with paroxysmal choreoathetosis
def: "A syndrome characterized by clinical features of benign familial infantile seizures and episodic kinesigenic dyskinesia. Benign familial infantile seizures is a disorder characterized by afebrile seizures occurring during the first year of life, without neurologic sequelae. Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously or are induced by a variety of stimuli." []
synonym: "Familial infantile convulsions and paroxysmal choreoathetosis" [UniProt]
synonym: "ICCA syndrome paroxysmal kinesigenic dyskinesia with infantile convulsions" [UniProt]
synonym: "PKD/IC" [UniProt]
xref: MedGen:C1865926
xref: MeSH:D020820
xref: MeSH:D020936
xref: MIM:602066 "phenotype"
[Term]
id: DI-03373
name: Seizures, benign familial infantile, 2
def: "A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS2 inheritance is autosomal dominant." []
synonym: "Benign familial infantile convulsions 2" [UniProt]
synonym: "BFIC2" [UniProt]
xref: MedGen:C1853995
xref: MeSH:D020936
xref: MIM:605751 "phenotype"
[Term]
id: DI-03374
name: Spastic ataxia 5, autosomal recessive
def: "A neurodegenerative disorder characterized by early onset spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy." []
xref: MedGen:C3280977
xref: MeSH:D002524
xref: MIM:614487 "phenotype"
[Term]
id: DI-03375
name: Bartsocas-Papas syndrome
def: "An autosomal recessive disorder characterized by multiple popliteal pterygia leading to severe arthrogryposis, ankyloblepharon filiforme adnatum, filiform bands between the jaws, synostosis of the carpal/tarsal and phalangeal bones in the hands and feet, digital hypoplasia/aplasia, complete soft-tissue syndactyly, lack of nails, lack of scalp hair, eyebrows and eyelashes, blepharophimosis, cleft lip and/or palate, and hypoplastic external genitalia. Early lethality is common, although survival into childhood and beyond has been reported." []
synonym: "Multiple pterygium syndrome, Aslan type" [UniProt]
synonym: "Popliteal pterygium syndrome, lethal type" [UniProt]
xref: MedGen:C1849718
xref: MeSH:D011625
xref: MIM:263650 "phenotype"
[Term]
id: DI-03376
name: Ichthyosis, spastic quadriplegia, and impaired intellectual development
def: "A severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures." []
xref: MedGen:C3280856
xref: MeSH:D007057
xref: MeSH:D008607
xref: MeSH:D010264
xref: MIM:614457 "phenotype"
[Term]
id: DI-03377
name: Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type
def: "An autosomal recessive metabolic disorder due to an inborn error of thiamine metabolism. The phenotype is highly variable, but in general, affected individuals have onset in early childhood of acute encephalopathic episodes associated with increased serum and CSF lactate. These episodes result in progressive neurologic dysfunction manifest as gait disturbances, ataxia, dystonia, and spasticity, which in some cases may result in loss of ability to walk. Cognitive function is usually preserved, although mildly delayed development has been reported. These episodes are usually associated with infection and metabolic decompensation. Some patients may have recovery of some neurologic deficits." []
synonym: "Episodic encephalopathy due to thiamine pyrophosphokinase deficiency" [UniProt]
xref: MedGen:C3280866
xref: MeSH:D020739
xref: MIM:614458 "phenotype"
[Term]
id: DI-03378
name: Brain small vessel disease 2
def: "An autosomal dominant cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD2 features include intracranial hemorrage, fluid-filled cysts or cavities within the cerebral hemispheres, delayed psychomotor development, hemiplegia, spasticity and seizures." []
synonym: "Gould syndrome 2" [UniProt]
synonym: "POREN2" [UniProt]
synonym: "Porencephaly 2" [UniProt]
xref: MedGen:C3280970
xref: MeSH:D001927
xref: MIM:614483 "phenotype"
[Term]
id: DI-03379
name: Hyperglycinemia, lactic acidosis, and seizures
def: "An enzymatic defect resulting in an autosomal recessive disorder of mitochondrial metabolism. It is characterized by early-onset lactic acidosis, severe encephalomyopathy, and a pyruvate oxidation defect. Affected individuals have neonatal-onset epilepsy, poor growth, psychomotor retardation, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine." []
synonym: "PDHLD" [UniProt]
synonym: "Pyruvate dehydrogenase lipoic acid synthetase deficiency" [UniProt]
xref: MedGen:C3280887
xref: MeSH:D008661
xref: MIM:614462 "phenotype"
[Term]
id: DI-03380
name: Familial cold autoinflammatory syndrome 3
def: "An autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritis in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B-cells, defective B-cells, increased susceptibility to infection, and increased risk of autoimmune disorders." []
synonym: "Antibody deficiency and immune dysregulation PLACG2-associated" [UniProt]
synonym: "FACU" [UniProt]
synonym: "Familial atypical cold urticaria" [UniProt]
synonym: "PLAID" [UniProt]
xref: MedGen:C3280914
xref: MeSH:D056587
xref: MIM:614468 "phenotype"
[Term]
id: DI-03381
name: RAS-associated autoimmune leukoproliferative disorder
def: "A disorder of apoptosis, characterized by chronic accumulation of non- malignant lymphocytes, defective lymphocyte apoptosis, and an increased risk for the development of hematologic malignancies." []
synonym: "ALPS4" [UniProt]
synonym: "Autoimmune lymphoproliferative syndrome 4" [UniProt]
synonym: "Autoimmune lymphoproliferative syndrome, type IV" [UniProt]
xref: MedGen:C2674723
xref: MeSH:D056735
xref: MIM:614470 "phenotype"
[Term]
id: DI-03382
name: Arterial calcification of infancy, generalized, 2
def: "A severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure." []
xref: MedGen:C3276161
xref: MedGen:CN121653
xref: MeSH:D061205
xref: MIM:614473 "phenotype"
[Term]
id: DI-03383
name: Usher syndrome 3B
def: "A syndrome characterized by progressive vision and hearing loss during early childhood. Some patients have the so-called 'Charles Bonnet syndrome,' involving decreased visual acuity and vivid visual hallucinations. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH3 is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life." []
xref: MedGen:C3281066
xref: MedGen:CN121957
xref: MeSH:D052245
xref: MIM:614504 "phenotype"
[Term]
id: DI-03384
name: Microphthalmia/Coloboma 7
def: "A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure)." []
synonym: "Colobomatous microphthalmia 7" [UniProt]
synonym: "Microphthalmia, isolated, with coloboma, 7" [UniProt]
xref: MedGen:C3281027
xref: MeSH:D003103
xref: MeSH:D008850
xref: MIM:614497 "phenotype"
[Term]
id: DI-03385
name: Wiskott-Aldrich syndrome 2
def: "An immunodeficiency disorder characterized by eczema, thrombocytopenia, recurrent infections, defective T-cell proliferation, and impaired natural killer cell function." []
synonym: "WIPF1 deficiency" [UniProt]
xref: MedGen:C3281001
xref: MeSH:D014923
xref: MIM:614493 "phenotype"
[Term]
id: DI-03386
name: Trigonocephaly 2
def: "A keel-shaped deformation of the forehead, caused by premature fusion of the metopic sutures. It results in a triangular shape of the head." []
synonym: "Metopic craniosynostosis" [UniProt]
xref: MedGen:C3280974
xref: MeSH:D003398
xref: MIM:614485 "phenotype"
[Term]
id: DI-03387
name: Hypertriglyceridemia, transient infantile
def: "An autosomal recessive disorder characterized by onset of moderate to severe transient hypertriglyceridemia in infancy that normalizes with age. The hypertriglyceridemia is associated with hepatomegaly, moderately elevated transaminases, persistent fatty liver, and the development of hepatic fibrosis." []
xref: MedGen:C3280953
xref: MeSH:D015228
xref: MIM:614480 "phenotype"
[Term]
id: DI-03388
name: Huppke-Brendel syndrome
def: "An autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and cerebellar atrophy and hypomyelination." []
synonym: "Acetyl-CoA transporter deficiency" [UniProt]
synonym: "CCHLND" [UniProt]
synonym: "Congenital cataracts, hearing loss, and neurodegeneration" [UniProt]
xref: MedGen:C3280965
xref: MeSH:D000015
xref: MIM:614482 "phenotype"
[Term]
id: DI-03389
name: Floating-Harbor syndrome
def: "A rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips." []
xref: MedGen:C0729582
xref: MeSH:D000015
xref: MIM:136140 "phenotype"
[Term]
id: DI-03390
name: Mitochondrial DNA depletion syndrome 10
def: "An autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Mental development is normal, but affected individuals may die early from cardiomyopathy." []
synonym: "Cardiomyopathy and cataract" [UniProt]
synonym: "Mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)" [UniProt]
synonym: "Sengers syndrome" [UniProt]
xref: MedGen:C1859317
xref: MeSH:D002386
xref: MeSH:D009202
xref: MeSH:D028361
xref: MIM:212350 "phenotype"
[Term]
id: DI-03391
name: Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive
def: "A disease characterized by the association of split-hand/foot malformation with deafness. Split-hand/foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have intellectual disability, ectodermal and craniofacial findings, and orofacial clefting." []
synonym: "Congenital deafness and split hands and feet" [UniProt]
xref: MedGen:C1857344
xref: MeSH:D003638
xref: MeSH:D017880
xref: MIM:220600 "phenotype"
[Term]
id: DI-03392
name: Leukoencephalopathy, hereditary diffuse, with spheroids 1
def: "An autosomal dominant adult-onset rapidly progressive neurodegenerative disorder characterized by variable behavioral, cognitive, and motor changes. Patients often die of dementia within 6 years of onset. Brain imaging shows patchy abnormalities in the cerebral white matter, predominantly affecting the frontal and parietal lobes." []
synonym: "ALSP" [UniProt]
synonym: "Autosomal dominant leukoencephalopathy with neuroaxonal spheroids" [UniProt]
synonym: "Familial dementia Neumann type" [UniProt]
synonym: "Familial progressive subcortical gliosis" [UniProt]
synonym: "GPSC" [UniProt]
synonym: "HDLS" [UniProt]
synonym: "Leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia" [UniProt]
synonym: "Leukoencephalopathy, diffuse hereditary, with spheroids" [UniProt]
synonym: "Subcortical gliosis of Neumann" [UniProt]
xref: MedGen:C1857300
xref: MedGen:C2673753
xref: MeSH:D005911
xref: MeSH:D056784
xref: MIM:221820 "phenotype"
[Term]
id: DI-03393
name: Microcephaly and chorioretinopathy, autosomal recessive, 1
def: "A syndrome characterized by microcephaly, cognitive impairment, underdeveloped retina and choroid, and epilepsy in some patients. The more anterior parts of the retina, near the periphery and pars plana, have a grayish hue and diminutive vasculature similar to retinopathy of prematurity. Visual impairment becomes evident during the first year of life." []
xref: MedGen:C0795793
xref: MedGen:C1855056
xref: MedGen:C3278481
xref: MeSH:D008831
xref: MeSH:D012164
xref: MIM:251270 "phenotype"
[Term]
id: DI-03394
name: Cerebroretinal microangiopathy with calcifications and cysts 1
def: "An autosomal recessive pleiomorphic disorder characterized primarily by intracranial calcifications, leukodystrophy, and brain cysts, resulting in spasticity, ataxia, dystonia, seizures, and cognitive decline. Patients also have retinal telangiectasia and exudates (Coats disease) as well as extraneurologic manifestations, including osteopenia with poor bone healing and a high risk of gastrointestinal bleeding and portal hypertension caused by vasculature ectasias in the stomach, small intestine, and liver. Some individuals also have hair, skin, and nail changes, as well as anemia and thrombocytopenia." []
synonym: "Coats plus syndrome" [UniProt]
xref: MedGen:C2677299
xref: MeSH:D002114
xref: MeSH:D056784
xref: MeSH:D058456
xref: MeSH:D059345
xref: MIM:612199 "phenotype"
[Term]
id: DI-03395
name: Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly
def: "A disorder characterized by mild to moderate intellectual disability, megalencephaly or enlarged head circumference, and a mild variant of lissencephaly with anterior-predominant pachygyria with shallow and unusually wide sulci and mildly thickened cortex. Some patients may have seizures." []
xref: MedGen:C3281044
xref: MeSH:D008607
xref: MIM:614499 "phenotype"
[Term]
id: DI-03397
name: Congenital disorder of glycosylation 1R
def: "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions." []
synonym: "CDG Ir" [UniProt]
synonym: "CDG-Ir" [UniProt]
synonym: "CDGIr" [UniProt]
synonym: "Congenital disorder of glycosylation 1r" [UniProt]
synonym: "Congenital disorder of glycosylation type Ir" [UniProt]
xref: MedGen:C3281084
xref: MeSH:D018981
xref: MIM:614507 "phenotype"
[Term]
id: DI-03398
name: Developmental and epileptic encephalopathy 13
def: "A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. DEE13 is a severe form consisting of early-onset seizures, features of autism, intellectual disability, ataxia, and sudden unexplained death in epilepsy." []
synonym: "EIEE13" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 13" [UniProt]
xref: MedGen:C3281191
xref: MeSH:D013036
xref: MIM:614558 "phenotype"
[Term]
id: DI-03399
name: Mirror movements 2
def: "A disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities." []
xref: MedGen:C3281089
xref: MeSH:D020820
xref: MIM:614508 "phenotype"
[Term]
id: DI-03400
name: Fibrochondrogenesis 2
def: "A severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia." []
xref: MedGen:C3281128
xref: MeSH:D010009
xref: MIM:614524 "phenotype"
[Term]
id: DI-03401
name: Thrombocythemia 2
def: "A myeloproliferative disorder characterized by excessive platelet production, resulting in increased numbers of circulating platelets. It can be associated with spontaneous hemorrhages and thrombotic episodes." []
synonym: "Thrombocytosis 2" [UniProt]
xref: MedGen:C3275998
xref: MeSH:D013920
xref: MIM:601977 "phenotype"
[Term]
id: DI-03402
name: Thrombocythemia 3
def: "A myeloproliferative disorder characterized by excessive platelet production, resulting in increased numbers of circulating platelets. It can be associated with spontaneous hemorrhages and thrombotic episodes." []
synonym: "Thrombocytosis 3" [UniProt]
xref: MedGen:C3281125
xref: MeSH:D013920
xref: MIM:614521 "phenotype"
[Term]
id: DI-03403
name: Multiple congenital anomalies-hypotonia-seizures syndrome 2
def: "An X-linked recessive developmental disorder characterized by dysmorphic features, neonatal hypotonia, myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Most affected individuals die in infancy." []
synonym: "EIEE20" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 20" [UniProt]
synonym: "FCCS" [UniProt]
synonym: "Ferro-cerebro-cutaneous syndrome" [UniProt]
synonym: "Glycosylphosphatidylinositol biosynthesis defect 4" [UniProt]
synonym: "GPIBD4" [UniProt]
xref: MedGen:C3275508
xref: MeSH:D000015
xref: MeSH:D013036
xref: MIM:300868 "phenotype"
[Term]
id: DI-03404
name: Rigidity and multifocal seizure syndrome, lethal neonatal
def: "A lethal, neonatal, neurologic disorder characterized by episodic jerking that is apparent in utero, lack of psychomotor development, axial and limb rigidity, frequent multifocal seizures, and dysautonomia. At birth, affected individuals have small heads, overlapping cranial sutures, small or absent fontanels, and depressed frontal bones. Infants show poorly responsive focal jerks of the tongue, face and arms in a nearly continuous sequence throughout life." []
xref: MedGen:C3281029
xref: MeSH:D009127
xref: MeSH:D012640
xref: MIM:614498 "phenotype"
[Term]
id: DI-03405
name: Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures
def: "An autosomal recessive disease characterized by severe psychomotor retardation, intractable seizures, dysmorphic features, and a lumpy skull surface. Patients are hypotonic and have poor feeding in the neonatal period." []
synonym: "PMRED" [UniProt]
synonym: "Psychomotor retardation, epilepsy, and craniofacial dysmorphism" [UniProt]
xref: MedGen:C3281055
xref: MeSH:D004827
xref: MeSH:D011596
xref: MeSH:D019465
xref: MIM:614501 "phenotype"
[Term]
id: DI-03406
name: Intracerebral hemorrhage
def: "A pathological condition characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. Intracerebral bleeding is a common cause of stroke." []
synonym: "Hemorrhagic stroke" [UniProt]
xref: MedGen:C0019191
xref: MedGen:C3281105
xref: MeSH:D002543
xref: MIM:614519 "phenotype"
[Term]
id: DI-03407
name: Basal ganglia calcification, idiopathic, 1
def: "A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas." []
synonym: "Autosomal dominant adult-onset striopallidodentate calcinosis" [UniProt]
synonym: "Bilateral striopallidodentate calcinosis" [UniProt]
synonym: "BSPDC" [UniProt]
synonym: "Cerebrovascular ferrocalcinosis" [UniProt]
synonym: "Familial Fahr disease" [UniProt]
synonym: "IBGC2" [UniProt]
synonym: "IBGC3" [UniProt]
synonym: "Idiopathic basal ganglia calcification 2" [UniProt]
synonym: "Idiopathic basal ganglia calcification 3" [UniProt]
synonym: "Non-arteriosclerotic, idiopathic, adult-onset cerebral calcification" [UniProt]
synonym: "PFBC" [UniProt]
synonym: "Primary familial brain calcification" [UniProt]
xref: MedGen:C0393590
xref: MedGen:C3281142
xref: MeSH:D001480
xref: MeSH:D002114
xref: MIM:213600 "phenotype"
[Term]
id: DI-03408
name: Ehlers-Danlos syndrome, kyphoscoliotic type, 2
def: "A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSKSCL2 is an autosomal recessive form characterized by severe generalized hypotonia at birth, myopathy, early-onset progressive kyphoscoliosis, joint hypermobility without contractures, hyperelastic skin with follicular hyperkeratosis, easy bruising, and occasional abnormal scarring, sensorineural hearing impairment, and normal pyridinoline excretion in urine." []
synonym: "EDSKMH" [UniProt]
synonym: "Ehlers-Danlos syndrome, with progressive kyphoscoliosis, myopathy, and hearing loss" [UniProt]
xref: MedGen:C3281160
xref: MeSH:D004535
xref: MeSH:D034381
xref: MIM:614557 "phenotype"
[Term]
id: DI-03409
name: Infantile cerebellar-retinal degeneration
def: "A severe autosomal recessive neurodegenerative disorder characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. Affected individuals show profound psychomotor retardation, with only some achieving rolling, sitting, or recognition of family. Brain MRI shows progressive cerebral and cerebellar degeneration." []
xref: MedGen:C3281192
xref: MeSH:D012162
xref: MeSH:D019636
xref: MIM:614559 "phenotype"
[Term]
id: DI-03410
name: Spastic paraplegia 12, autosomal dominant
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body." []
xref: MedGen:C1858106
xref: MeSH:D015419
xref: MIM:604805 "phenotype"
[Term]
id: DI-03411
name: Spastic paraplegia 18B, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG18B is a severe form with onset in early childhood. Most affected individuals have severe psychomotor retardation. Some may develop significant joint contractures." []
synonym: "IDMDC" [UniProt]
synonym: "Intellectual disability motor dysfunction and joint contractures" [UniProt]
xref: MedGen:C2749936
xref: MeSH:D015419
xref: MIM:611225 "phenotype"
[Term]
id: DI-03412
name: 5-oxoprolinase deficiency
def: "A disorder characterized by calcium oxalate/carbonate urolithiasis, and excessive urinary 5-oxo-L-proline. Affected individuals have recurrent episodes of vomiting, diarrhea, and abdominal pain." []
synonym: "Oxoprolinuria due to oxoprolinase deficiency" [UniProt]
xref: MedGen:C0268525
xref: MeSH:D000592
xref: MIM:260005 "phenotype"
[Term]
id: DI-03413
name: Perlman syndrome
def: "An autosomal recessive congenital overgrowth syndrome. Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor. Histologic examination of the kidneys in affected children shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor." []
synonym: "Nephroblastomatosis fetal ascites macrosomia and Wilms tumor" [UniProt]
synonym: "Renal hamartomas nephroblastomatosis and fetal gigantism" [UniProt]
xref: MedGen:C0796113
xref: MeSH:D005320
xref: MeSH:D007680
xref: MIM:267000 "phenotype"
[Term]
id: DI-03414
name: Mandibulofacial dysostosis with microcephaly
def: "A rare syndrome characterized by progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, significant developmental delay, and speech delay. Many patients have major sequelae, including choanal atresia that results in respiratory difficulties, conductive hearing loss, and cleft palate." []
xref: MedGen:C1864652
xref: MeSH:D008342
xref: MeSH:D008831
xref: MIM:610536 "phenotype"
[Term]
id: DI-03415
name: Myelofibrosis with myeloid metaplasia
def: "A chronic myeloproliferative disorder characterized by replacement of the bone marrow by fibrous tissue, extramedullary hematopoiesis, anemia, leukoerythroblastosis and hepatosplenomegaly." []
synonym: "Agnogenic myeloid metaplasia" [UniProt]
synonym: "Agnogenic myeloid metaplasia with myelofibrosis" [UniProt]
synonym: "AMMM" [UniProt]
synonym: "Myelosclerosis with myeloid metaplasia" [UniProt]
xref: MedGen:C0026987
xref: MeSH:D009191
xref: MIM:254450 "phenotype"
[Term]
id: DI-03416
name: Baraitser-Winter syndrome 1
def: "A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior- predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss." []
synonym: "Cerebrofrontofacial syndrome" [UniProt]
synonym: "Cerebrooculofacial lymphatic syndrome" [UniProt]
synonym: "Chromosome 7p22 deletion syndrome" [UniProt]
synonym: "COFLS" [UniProt]
synonym: "Fryns-Aftimos syndrome" [UniProt]
xref: MedGen:C1855722
xref: MeSH:D001763
xref: MeSH:D003103
xref: MeSH:D006972
xref: MeSH:D008607
xref: MIM:243310 "phenotype"
[Term]
id: DI-03417
name: Baraitser-Winter syndrome 2
def: "A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior- predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss." []
xref: MedGen:C3281235
xref: MeSH:D001763
xref: MeSH:D003103
xref: MeSH:D006972
xref: MeSH:D008607
xref: MIM:614583 "phenotype"
[Term]
id: DI-03418
name: Emery-Dreifuss muscular dystrophy 3, autosomal recessive
def: "A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects." []
synonym: "Emery-Dreifuss muscular dystrophy atypical autosomal recessive" [UniProt]
xref: MedGen:C2750034
xref: MedGen:C2750035
xref: MeSH:D020389
xref: MIM:616516 "phenotype"
[Term]
id: DI-03419
name: Deafness, autosomal dominant, 4B
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:C3281297
xref: MeSH:D006319
xref: MIM:614614 "phenotype"
[Term]
id: DI-03420
name: Pre-eclampsia/eclampsia 5
def: "A hypertensive disorder of pregnancy characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. It impacts 2 individuals, the mother and her child, both of whom can be severely affected. Preeclampsia is one of the causes of maternal mortality and morbidity worldwide." []
synonym: "Gestational proteinuric hypertension" [UniProt]
xref: MedGen:C3281288
xref: MeSH:D004461
xref: MeSH:D011225
xref: MIM:614595 "phenotype"
[Term]
id: DI-03421
name: Trichohepatoenteric syndrome 1
def: "A syndrome characterized by intrauterine growth retardation, severe diarrhea in infancy requiring total parenteral nutrition, facial dysmorphism, immunodeficiency, and hair abnormalities, mostly trichorrhexis nodosa. Hepatic involvement contributes to the poor prognosis of affected patients." []
synonym: "Fatal infantile diarrhea with trichorrhexis nodosa" [UniProt]
synonym: "Intractable diarrhea with phenotypic anomalies" [UniProt]
synonym: "Phenotypic diarrhea of infancy" [UniProt]
synonym: "Syndromic diarrhea" [UniProt]
synonym: "THE syndrome" [UniProt]
xref: MedGen:C1857276
xref: MeSH:D003968
xref: MIM:222470 "phenotype"
[Term]
id: DI-03422
name: Trichohepatoenteric syndrome 2
def: "A syndrome characterized by intrauterine growth retardation, severe diarrhea in infancy requiring total parenteral nutrition, facial dysmorphism, immunodeficiency, and hair abnormalities, mostly trichorrhexis nodosa. Hepatic involvement contributes to the poor prognosis of affected patients." []
xref: MedGen:C3281289
xref: MeSH:D003968
xref: MIM:614602 "phenotype"
[Term]
id: DI-03423
name: Auditory neuropathy, autosomal dominant 1
def: "A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. Affected individuals typically respond to sound but have difficulties in speech discrimination." []
synonym: "Nonsyndromic auditory neuropathy autosomal dominant" [UniProt]
synonym: "NSDAN" [UniProt]
xref: MedGen:C1836743
xref: MeSH:D006319
xref: MIM:609129 "phenotype"
[Term]
id: DI-03424
name: Radiohumeral fusions with other skeletal and craniofacial anomalies
def: "A disease characterized by craniofacial malformations, occipital encephalocele, radiohumeral fusions, oligodactyly, advanced osseous maturation, and calvarial mineralization defects." []
synonym: "Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies" [UniProt]
xref: MedGen:C3280729
xref: MeSH:D013580
xref: MIM:614416 "phenotype"
[Term]
id: DI-03425
name: Cortical dysplasia, complex, with other brain malformations 13
def: "An autosomal dominant disorder characterized by global developmental delay with impaired intellectual development. Some patients show signs of peripheral neuropathy, such as abnormal gait and hyporeflexia. CDCBM13 is associated with variable neuronal migration defects resulting in cortical malformations." []
synonym: "Intellectual developmental disorder, autosomal dominant 13" [UniProt]
synonym: "MRD13" [UniProt]
xref: MedGen:C3281202
xref: MeSH:D008607
xref: MIM:614563 "phenotype"
[Term]
id: DI-03426
name: Night blindness, congenital stationary, 1E
def: "An autosomal recessive, non-progressive retinal disorder characterized by impaired night vision, absence of the electroretinogram (ERG) b- wave, and variable degrees of involvement of other visual functions. Affected individuals have an ERG waveform that lacks the b-wave because of failure to transmit the photoreceptor signal through the retinal depolarizing bipolar cells." []
synonym: "Complete autosomal recessive CSNB" [UniProt]
xref: MedGen:C3281215
xref: MeSH:D009755
xref: MIM:614565 "phenotype"
[Term]
id: DI-03427
name: Cutaneous telangiectasia and cancer syndrome, familial
def: "A disease characterized by cutaneous telangiectases in infancy with patchy alopecia over areas of affected skin, thinning of the lateral eyebrows, and mild dental and nail anomalies. Affected individuals are at increased risk of developing oropharyngeal cancer, and other malignancies have been reported as well." []
xref: MedGen:C3281203
xref: MeSH:D009386
xref: MeSH:D013684
xref: MIM:614564 "phenotype"
[Term]
id: DI-03428
name: Combined oxidative phosphorylation deficiency 9
def: "A mitochondrial disease characterized by failure to thrive, poor feeding, hypertrophic cardiomyopathy, hepatomegaly, and psychomotor retardation. Death in infancy has been observed in some cases." []
xref: MedGen:C3281234
xref: MeSH:D028361
xref: MIM:614582 "phenotype"
[Term]
id: DI-03429
name: Bent bone dysplasia syndrome 1
def: "A perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones. Dysmorphic facial features included low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia." []
xref: MedGen:C3281247
xref: MeSH:D001848
xref: MIM:614592 "phenotype"
[Term]
id: DI-03430
name: Olmsted syndrome 1
def: "An autosomal dominant, rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes." []
synonym: "Mutilating palmoplantar keratoderma with periorificial keratotic plaques" [UniProt]
xref: MedGen:C2609071
xref: MeSH:D007645
xref: MIM:614594 "phenotype"
[Term]
id: DI-03431
name: Tylosis with esophageal cancer
def: "An autosomal dominant syndrome characterized by focal non- epidermolytic palmoplantar keratoderma, oral leukokeratosis, and a high lifetime risk of developing esophageal squamous cell carcinoma." []
synonym: "Keratosis palmaris et plantaris with esophageal cancer" [UniProt]
synonym: "Palmoplantar keratoderma with esophageal cancer" [UniProt]
xref: MedGen:C1835664
xref: MeSH:D015776
xref: MIM:148500 "phenotype"
[Term]
id: DI-03432
name: Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development
def: "An autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes." []
synonym: "CDMMR syndrome" [UniProt]
synonym: "Lymphedema and retinal folds with microcephaly and microphthalmos" [UniProt]
synonym: "Lymphedema microcephaly chorioretinopathy syndrome" [UniProt]
synonym: "Microcephaly lymphedema chorioretinal dysplasia syndrome" [UniProt]
synonym: "MLCRD syndrome" [UniProt]
xref: MedGen:C1835265
xref: MeSH:D008831
xref: MIM:152950 "phenotype"
[Term]
id: DI-03433
name: Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant
def: "A form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMALED1 is characterized by muscle weakness predominantly affecting the proximal lower extremities." []
synonym: "Autosomal dominant childhood proximal spinal muscular atrophy" [UniProt]
synonym: "Autosomal dominant juvenile proximal spinal muscular atrophy" [UniProt]
synonym: "Autosomal dominant Kugelberg-Welander syndrome" [UniProt]
synonym: "SMA-LED" [UniProt]
xref: MedGen:C1834690
xref: MeSH:D009134
xref: MIM:158600 "phenotype"
[Term]
id: DI-03434
name: Muscular dystrophy, limb-girdle, autosomal dominant 1
def: "An autosomal dominant myopathy characterized by adult onset of proximal muscle weakness, beginning in the hip girdle region and later progressing to the shoulder girdle region." []
synonym: "LGMD1D" [UniProt]
synonym: "LGMD1E" [UniProt]
synonym: "Limb-girdle muscular dystrophy 1E" [UniProt]
synonym: "Limb-girdle muscular dystrophy type 1D" [UniProt]
synonym: "MDRV" [UniProt]
synonym: "Muscular dystrophy, autosomal dominant, with rimmed vacuoles" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 1D" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 1E" [UniProt]
xref: MedGen:C3148763
xref: MeSH:D049288
xref: MIM:603511 "phenotype"
[Term]
id: DI-03435
name: Megalocornea 1, X-linked
def: "An eye disorder in which the corneal diameter is bilaterally enlarged (greater than 13 mm) without an increase in intraocular pressure. It may also be referred to as anterior megalophthalmos, since the entire anterior segment is larger than normal. Features of megalocornea in addition to a deep anterior chamber include astigmatic refractive errors, atrophy of the iris stroma, miosis secondary to decreased function of the dilator muscle, iridodonesis, and tremulousness, subluxation, or dislocation of the lens. Whereas most affected individuals exhibit normal ocular function, complications include cataract development and glaucoma following lenticular dislocation or subluxation." []
synonym: "Megalocornea" [UniProt]
synonym: "MGCN" [UniProt]
xref: MedGen:C0344530
xref: MeSH:D003316
xref: MIM:309300 "phenotype"
[Term]
id: DI-03436
name: Multicentric carpotarsal osteolysis syndrome
def: "A rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Intellectual disability and minor facial anomalies have been noted in some patients." []
synonym: "Autosomal dominant multicentric osteolysis" [UniProt]
synonym: "Hereditary osteolysis of carpal bones with or without nephropathy" [UniProt]
xref: MedGen:C2674705
xref: MeSH:D010014
xref: MIM:166300 "phenotype"
[Term]
id: DI-03437
name: Genitopatellar syndrome
def: "A rare disorder consisting of microcephaly, severe psychomotor retardation, and characteristic coarse facial features, including broad nose and small or retracted chin, associated with congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies." []
xref: MedGen:C1853566
xref: MeSH:D000015
xref: MIM:606170 "phenotype"
[Term]
id: DI-03438
name: Renal tubular acidosis, distal, with normal red cell morphology
def: "A disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification." []
xref: MedGen:C1969039
xref: MeSH:D000141
xref: MIM:611590 "phenotype"
[Term]
id: DI-03439
name: Joubert syndrome 17
def: "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease." []
xref: MedGen:C3553264
xref: MedGen:CN124733
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:614615 "phenotype"
[Term]
id: DI-03440
name: Kohlschuetter-Toenz syndrome
def: "An autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype is consistent, there is variability. Intellectual disability is related to the severity of seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure onset, whereas others are delayed from birth. The most severely affected individuals have profound intellectual disability, never acquire speech, and become bedridden early in life." []
synonym: "Kohlschutter-Tonz syndrome" [UniProt]
xref: MedGen:C0406740
xref: MeSH:D000567
xref: MeSH:D003704
xref: MeSH:D004827
xref: MIM:226750 "phenotype"
[Term]
id: DI-03441
name: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7
def: "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease." []
synonym: "Muscle-eye-brain disease ISPD-related" [UniProt]
synonym: "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7" [UniProt]
synonym: "Walker-Warburg syndrome ISPD-related" [UniProt]
xref: MedGen:C3553330
xref: MedGen:CN124931
xref: MeSH:D058494
xref: MIM:614643 "phenotype"
[Term]
id: DI-03442
name: Anterior segment anomalies with or without cataract
def: "A disease characterized by various types of developmental eye anomalies, in the absence of other abnormalities. The phenotypic spectrum of anterior segment anomalies include central corneal opacity, Peters anomaly, and bilateral persistence of the pupillary membrane. Some patients have cataract." []
xref: MedGen:C3551443
xref: MeSH:D005124
xref: MIM:602588 "phenotype"
[Term]
id: DI-03443
name: UV-sensitive syndrome 2
def: "An autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors." []
xref: MedGen:C3553298
xref: MedGen:CN124929
xref: MeSH:D052245
xref: MIM:614621 "phenotype"
[Term]
id: DI-03444
name: UV-sensitive syndrome 3
def: "An autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors." []
xref: MedGen:C3553328
xref: MedGen:CN124930
xref: MeSH:D052245
xref: MIM:614640 "phenotype"
[Term]
id: DI-03445
name: Coenzyme Q10 deficiency, primary, 6
def: "An autosomal recessive disorder characterized by onset in infancy of severe progressive nephrotic syndrome resulting in end-stage renal failure and sensorineural deafness. Renal biopsy usually shows focal segmental glomerulosclerosis." []
synonym: "SRNS with sensorineural deafness" [UniProt]
synonym: "Steroid-resistant nephrotic syndrome with sensorineural deafness" [UniProt]
xref: MedGen:C3553349
xref: MedGen:CN125024
xref: MeSH:D006319
xref: MeSH:D028361
xref: MIM:614650 "phenotype"
[Term]
id: DI-03446
name: Coenzyme Q10 deficiency, primary, 2
def: "An autosomal recessive multisystem disorder characterized by early- onset deafness, optic atrophy, mild intellectual disability, peripheral neuropathy, obesity, livedo reticularis, and cardiac valvulopathy." []
xref: MedGen:C3553354
xref: MedGen:CN125025
xref: MeSH:D028361
xref: MIM:614651 "phenotype"
[Term]
id: DI-03447
name: Coenzyme Q10 deficiency, primary, 3
def: "A fatal encephalomyopathic form of coenzyme Q10 deficiency with nephrotic syndrome. Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form." []
xref: MedGen:C3553358
xref: MedGen:CN125026
xref: MeSH:D028361
xref: MIM:614652 "phenotype"
[Term]
id: DI-03448
name: Coenzyme Q10 deficiency, primary, 5
def: "A form of coenzyme Q10 deficiency, an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form." []
xref: MedGen:C3553374
xref: MedGen:CN125027
xref: MeSH:D028361
xref: MIM:614654 "phenotype"
[Term]
id: DI-03449
name: Ataxia, sensory, 1, autosomal dominant
def: "A rare disease characterized by progressive ataxia caused by degeneration of the posterior columns of the spinal cord. Affected individuals have a reduced ability to feel pain, temperature and vibration, particularly in the hands and feet. Their most prominent feature is an ataxic gait resulting from a severe loss of proprioception. Thus, patients rely on visual cues for maintaining proper body posture, such that they are unable to remain upright if their eyes are closed (Romberg sign)." []
synonym: "ADSA" [UniProt]
xref: MedGen:C1837015
xref: MeSH:D001259
xref: MIM:608984 "phenotype"
[Term]
id: DI-03450
name: Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2
def: "An autosomal recessive, congenital cerebellar ataxia associated with cerebellar hypoplasia, intellectual disability, and inability to walk bipedally, resulting in quadrupedal locomotion as a functional adaptation. Additional findings include generalized brain atrophy and mild hypoplasia of the corpus callosum." []
xref: MedGen:C2750234
xref: MeSH:D002524
xref: MeSH:D008607
xref: MIM:610185 "phenotype"
[Term]
id: DI-03451
name: Diarrhea 6
def: "A relatively mild, early-onset chronic diarrhea that may be associated with increased susceptibility to inflammatory bowel disease, small bowel obstruction, and esophagitis." []
xref: MedGen:C3553270
xref: MedGen:CN123925
xref: MeSH:D003967
xref: MIM:614616 "phenotype"
[Term]
id: DI-03452
name: Meconium ileus
def: "A condition characterized by intestinal obstruction due to inspissated meconium in the distal ileum and cecum, which develops in utero and presents shortly after birth as a failure to pass meconium. Meconium ileus is a known clinical manifestation of cystic fibrosis." []
xref: MedGen:C0270246
xref: MedGen:C2939175
xref: MeSH:D045823
xref: MIM:614665 "phenotype"
[Term]
id: DI-03453
name: Coffin-Siris syndrome 2
def: "A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported." []
synonym: "MRD14" [UniProt]
xref: MedGen:C3553247
xref: MedGen:CN123922
xref: MeSH:D000015
xref: MeSH:D008607
xref: MIM:614607 "phenotype"
[Term]
id: DI-03454
name: Coffin-Siris syndrome 3
def: "A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported." []
synonym: "MRD15" [UniProt]
xref: MedGen:C3553248
xref: MedGen:CN123923
xref: MeSH:D000015
xref: MeSH:D008607
xref: MIM:614608 "phenotype"
[Term]
id: DI-03455
name: Coffin-Siris syndrome 4
def: "A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported." []
synonym: "MRD16" [UniProt]
xref: MedGen:C3553249
xref: MedGen:CN123924
xref: MeSH:D000015
xref: MeSH:D008607
xref: MIM:614609 "phenotype"
[Term]
id: DI-03456
name: Hyperekplexia 3
def: "A neurologic disorder characterized by neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life- threatening neonatal apnea episodes. Notably, in some cases, symptoms resolved in the first year of life." []
xref: MedGen:C3553288
xref: MedGen:CN124884
xref: MeSH:D000071017
xref: MIM:614618 "phenotype"
[Term]
id: DI-03457
name: Hyperekplexia 2
def: "A neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli." []
synonym: "Autosomal recessive hyperekplexia 2" [UniProt]
xref: MedGen:C3553291
xref: MeSH:D000071017
xref: MIM:614619 "phenotype"
[Term]
id: DI-03458
name: Congenital disorder of glycosylation 2L
def: "A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Clinical features of CDG2L include neonatal intractable focal seizures, vomiting, loss of consciousness, intracranial bleeding due to vitamin K deficiency, and death in infancy." []
synonym: "CDG IIl" [UniProt]
synonym: "CDG-IIl" [UniProt]
synonym: "CDGIIl" [UniProt]
synonym: "Congenital disorder of glycosylation type IIl" [UniProt]
xref: MedGen:C3553230
xref: MedGen:CN124732
xref: MeSH:D018981
xref: MIM:614576 "phenotype"
[Term]
id: DI-03459
name: Acrodysostosis 1, with or without hormone resistance
def: "A form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin. However, not all patients show endocrine abnormalities." []
synonym: "ADOHR" [UniProt]
synonym: "Arkless-Graham syndrome" [UniProt]
synonym: "Maroteaux-Malamut syndrome" [UniProt]
xref: MedGen:C0220659
xref: MedGen:C3276228
xref: MeSH:D004413
xref: MIM:101800 "phenotype"
[Term]
id: DI-03460
name: Acrodysostosis 2, with or without hormone resistance
def: "A pleiotropic disorder characterized by skeletal, endocrine, and neurological abnormalities. Skeletal features include brachycephaly, midface hypoplasia with a small upturned nose, brachydactyly, and lumbar spinal stenosis. Endocrine abnormalities include hypothyroidism and hypogonadism in males and irregular menses in females. Developmental disability is a common finding but is variable in severity and can be associated with significant behavioral problems." []
xref: MedGen:C3553250
xref: MedGen:CN124736
xref: MeSH:D004413
xref: MIM:614613 "phenotype"
[Term]
id: DI-03461
name: Neuropathy, hereditary sensory and autonomic, 6
def: "A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN6 is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection." []
synonym: "Hereditary sensory neuropathy type VI" [UniProt]
synonym: "HSAN VI" [UniProt]
synonym: "HSN VI" [UniProt]
xref: MedGen:C3539003
xref: MedGen:CN125065
xref: MeSH:D009477
xref: MIM:614653 "phenotype"
[Term]
id: DI-03462
name: Psoriasis 2
def: "A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis." []
synonym: "Psoriasis" [UniProt]
synonym: "Psoriasis vulgaris" [UniProt]
synonym: "PV" [UniProt]
xref: MedGen:C1864497
xref: MeSH:D011565
xref: MIM:602723 "phenotype"
[Term]
id: DI-03463
name: Nicolaides-Baraitser syndrome
def: "A rare disorder characterized by severe intellectual disability with absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly, prominent finger joints and broad distal phalanges. Some of the features are progressive with time." []
synonym: "NBS" [UniProt]
synonym: "Sparse hair and intellectual development syndrome" [UniProt]
xref: MedGen:C1303073
xref: MeSH:D007039
xref: MeSH:D008607
xref: MeSH:D019066
xref: MIM:601358 "phenotype"
[Term]
id: DI-03464
name: Diaphyseal medullary stenosis with malignant fibrous histiocytoma
def: "An autosomal dominant bone dysplasia characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis. The fractures heal poorly, and there is progressive bowing of the lower extremities. Some patients show a limb-girdle myopathy, with muscle weakness and atrophy. Approximately 35% of affected individuals develop an aggressive form of bone sarcoma consistent with malignant fibrous histiocytoma or osteosarcoma." []
synonym: "BDMF" [UniProt]
synonym: "Bone dysplasia with malignant fibrous histiocytoma" [UniProt]
synonym: "Bone dysplasia with medullary fibrosarcoma" [UniProt]
synonym: "DMS-MFH" [UniProt]
synonym: "Limb-girdle myopathy with bone fragility" [UniProt]
xref: MedGen:C1862177
xref: MeSH:D001848
xref: MeSH:D051677
xref: MIM:112250 "phenotype"
[Term]
id: DI-03465
name: Coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome
def: "An extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies including conductive hearing loss. Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties." []
synonym: "CHIME syndrome" [UniProt]
synonym: "Glycosylphosphatidylinositol biosynthesis defect 5" [UniProt]
synonym: "GPIBD5" [UniProt]
synonym: "Zunich neuroectodermal syndrome" [UniProt]
xref: MedGen:C1848392
xref: MeSH:D003103
xref: MeSH:D006314
xref: MeSH:D006331
xref: MeSH:D007057
xref: MeSH:D008607
xref: MIM:280000 "phenotype"
[Term]
id: DI-03466
name: Ciliary dyskinesia, primary, 17
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome." []
synonym: "ICS17" [UniProt]
synonym: "Immotile cilia syndrome 17" [UniProt]
synonym: "Primary ciliary dyskinesia 17 with or without situs inversus" [UniProt]
xref: MedGen:C3542550
xref: MedGen:CN128721
xref: MeSH:D007619
xref: MIM:614679 "phenotype"
[Term]
id: DI-03467
name: Auriculocondylar syndrome 1
def: "An autosomal dominant form of auriculocondylar syndrome, a craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects." []
synonym: "ACS" [UniProt]
synonym: "Dysgnathia complex" [UniProt]
synonym: "Question mark ears syndrome" [UniProt]
xref: MedGen:C1865295
xref: MeSH:D004427
xref: MeSH:D018640
xref: MIM:602483 "phenotype"
[Term]
id: DI-03468
name: Auriculocondylar syndrome 2A
def: "An autosomal dominant form of auriculocondylar syndrome, a craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects." []
xref: MedGen:C3553404
xref: MedGen:CN128706
xref: MeSH:D004427
xref: MeSH:D018640
xref: MIM:614669 "phenotype"
[Term]
id: DI-03469
name: Cardiomyopathy, dilated, 2B
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C3553409
xref: MedGen:CN128710
xref: MeSH:D002311
xref: MIM:614672 "phenotype"
[Term]
id: DI-03470
name: Microcephaly 8, primary, autosomal recessive
def: "A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have severe intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder." []
xref: MedGen:C3553414
xref: MedGen:CN128714
xref: MeSH:D008831
xref: MIM:614673 "phenotype"
[Term]
id: DI-03471
name: Bone marrow failure syndrome 1
def: "An autosomal dominant disease characterized by aplastic anemia and myelodysplasia resulting from bone marrow failure. Aplastic anemia is a form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. Myelodysplasia is a clonal hematopoietic stem cell disorder in which immature cells in the bone marrow become malformed and dysfunctional." []
synonym: "BMFF" [UniProt]
synonym: "Familial bone marrow failure" [UniProt]
xref: MedGen:C3553438
xref: MedGen:CN128716
xref: MeSH:D000080983
xref: MIM:614675 "phenotype"
[Term]
id: DI-03472
name: Periodic fever, menstrual cycle-dependent
def: "A condition characterized by recurrent fevers up to 40 degrees Celsius associated with the luteal phase of the menstrual cycle. Women show menstrual cycle-dependent physiologic changes in relation to sex hormone levels. Because ovulation triggers a significant change in the hormonal milieu that is similar to local inflammation, a 0.5 to 1.0 degree Celsius increase in basal body temperature after ovulation is commonly associated with progesterone secretion and is believed to be triggered by the induction of several inflammatory cytokines." []
xref: MedGen:C3553418
xref: MedGen:CN128715
xref: MeSH:D056660
xref: MIM:614674 "phenotype"
[Term]
id: DI-03473
name: Cataract 38
def: "An opacification of the crystalline lens of the eye becoming evident at birth. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function." []
synonym: "Autosomal recessive congenital cataract 5" [UniProt]
synonym: "CATC5" [UniProt]
xref: MedGen:C3553494
xref: MedGen:CN128904
xref: MeSH:D002386
xref: MIM:614691 "phenotype"
[Term]
id: DI-03474
name: Acrofacial dysostosis 1, Nager type
def: "A form of acrofacial dysostosis, a group of disorders which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of AFD1 include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hyoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported." []
synonym: "AFD Nager type" [UniProt]
synonym: "Mandibulofacial dysostosis Treacher Collins type with limb anomalies" [UniProt]
synonym: "Nager acrofacial dysostosis" [UniProt]
synonym: "Nager syndrome" [UniProt]
xref: MedGen:C0265245
xref: MeSH:D008342
xref: MIM:154400 "phenotype"
[Term]
id: DI-03475
name: Short-rib thoracic dysplasia 9 with or without polydactyly
def: "A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. SRTD9 is characterized by phalangeal cone-shaped epiphyses, chronic renal disease, nearly constant retinal dystrophy, and mild radiographic abnormality of the proximal femur. Occasional features include short stature, cerebellar ataxia, and hepatic fibrosis." []
synonym: "Conorenal syndrome" [UniProt]
synonym: "Mainzer-Saldino disease" [UniProt]
synonym: "Mainzer-Saldino syndrome" [UniProt]
synonym: "MSS" [UniProt]
synonym: "MZSDS" [UniProt]
synonym: "Renal dysplasia retinal pigmentary dystrophy cerebellar ataxia and skeletal dysplasia" [UniProt]
xref: MedGen:C1849437
xref: MeSH:D002524
xref: MeSH:D012174
xref: MeSH:D012779
xref: MIM:266920 "phenotype"
[Term]
id: DI-03476
name: Intellectual developmental disorder, autosomal recessive 5
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:C1970199
xref: MeSH:D008607
xref: MIM:611091 "phenotype"
[Term]
id: DI-03477
name: Pontocerebellar hypoplasia 1B
def: "A severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement." []
xref: MedGen:C3553449
xref: MedGen:CN128720
xref: MeSH:D002526
xref: MIM:614678 "phenotype"
[Term]
id: DI-03478
name: Polyposis syndrome, mixed hereditary 1
def: "A disease characterized by apparent autosomal dominant inheritance of multiple types of colorectal polyp, with colorectal carcinoma occurring in a high proportion of affected individuals. Patients can develop polyps of multiple and mixed morphologies, including serrated lesions, Peutz-Jeghers polyps, juvenile polyps, conventional adenomas and colorectal carcinoma in the absence of any identifiable extra- colonic features." []
synonym: "Colorectal adenoma and carcinoma 1" [UniProt]
synonym: "CRAC1" [UniProt]
xref: MedGen:C1832587
xref: MeSH:D018256
xref: MIM:601228 "phenotype"
[Term]
id: DI-03479
name: Colorectal cancer 4
def: "A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history." []
synonym: "Susceptibility to colorectal cancer on chromosome 15" [UniProt]
xref: MedGen:C2677290
xref: MedGen:C2677291
xref: MeSH:D015179
xref: MIM:601228 "phenotype"
[Term]
id: DI-03480
name: Hamamy syndrome
def: "A syndrome characterized by severe hypertelorism, upslanting palpebral fissures, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Additional features include myopia, mild to moderate sensorineural hearing loss, gonadal anomalies and borderline intelligence." []
xref: MedGen:C1970027
xref: MeSH:D006972
xref: MeSH:D008607
xref: MIM:611174 "phenotype"
[Term]
id: DI-03481
name: Charcot-Marie-Tooth disease, axonal, 2M
def: "An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy." []
synonym: "Charcot-Marie-Tooth disease axonal autosomal dominant type 2M" [UniProt]
synonym: "Charcot-Marie-Tooth disease axonal type 2M" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy axonal type 2M" [UniProt]
xref: MedGen:C2751364
xref: MeSH:D002607
xref: MIM:606482 "phenotype"
[Term]
id: DI-03482
name: Autism, X-linked 6
def: "A form of autism, a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. AUTSX6 patients may respond favorably to carnitine supplementation." []
synonym: "Epsilon-trimethyllysine hydroxylase deficiency" [UniProt]
synonym: "TMLHED" [UniProt]
xref: MedGen:C3550875
xref: MedGen:CN130016
xref: MeSH:D001321
xref: MeSH:D008661
xref: MIM:300872 "phenotype"
[Term]
id: DI-03483
name: Congenital disorder of glycosylation 2K
def: "An autosomal recessive disorder with a variable phenotype. Affected individuals show psychomotor retardation and growth retardation, and most have short stature. Other features include dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia. Congenital disorders of glycosylation are caused by a defect in glycoprotein biosynthesis and characterized by under- glycosylated serum glycoproteins and a wide variety of clinical features. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions." []
synonym: "CDG IIk" [UniProt]
synonym: "CDG-IIk" [UniProt]
synonym: "CDGIIk" [UniProt]
synonym: "Congenital disorder of glycosylation type IIk" [UniProt]
xref: MedGen:C3553571
xref: MedGen:CN130470
xref: MeSH:D018981
xref: MIM:614727 "phenotype"
[Term]
id: DI-03484
name: Seckel syndrome 6
def: "A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability." []
xref: MedGen:C3553582
xref: MedGen:CN130471
xref: MeSH:D004392
xref: MeSH:D008831
xref: MIM:614728 "phenotype"
[Term]
id: DI-03485
name: Hypertrichotic osteochondrodysplasia
def: "A rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The hypertrichosis leads to thick scalp hair, which extends onto the forehead, and a general increase in body hair. In addition, macrocephaly and coarse facial features, including a broad nasal bridge, epicanthal folds, a wide mouth, and full lips, can be suggestive of a storage disorder. About half of affected individuals are macrosomic and edematous at birth, whereas in childhood they usually have a muscular appearance with little subcutaneous fat. Thickened calvarium, narrow thorax, wide ribs, flattened or ovoid vertebral bodies, coxa valga, osteopenia, enlarged medullary canals, and metaphyseal widening of long bones have been reported. Cardiac manifestations such as patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions are present in approximately 80% of cases. Motor development is usually delayed due to hypotonia. Most patients have a mild speech delay, and a small percentage have learning difficulties or intellectual disability." []
synonym: "Cantu syndrome" [UniProt]
xref: MedGen:C0795905
xref: MeSH:D006983
xref: MeSH:D010009
xref: MIM:239850 "phenotype"
[Term]
id: DI-03486
name: Digital arthropathy-brachydactyly, familial
def: "A disorder characterized by irregularities in the proximal articular surfaces of the distal interphalangeal joints of the hand. Individuals appear normal at birth, with no clinical or radiographic evidence of a developmental skeletal dysplasia. The earliest changes appear during the first decade of life. By adulthood, all interphalangeal, metacarpophalangeal, and metatarsophalangeal joints are affected by a deforming, painful osteoarthritis. The remainder of the skeleton is clinically and radiographically unaffected." []
xref: MedGen:C1847406
xref: MeSH:D006226
xref: MeSH:D059327
xref: MIM:606835 "phenotype"
[Term]
id: DI-03487
name: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
def: "A sporadically occurring, non-hereditary disorder characterized by asymmetric somatic hypertrophy and anomalies in multiple organs. It is defined by four main clinical findings: congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities. The presence of truncal overgrowth and characteristic patterned macrodactyly at birth differentiates CLOVE from other syndromic forms of overgrowth." []
synonym: "CLOVE syndrome" [UniProt]
synonym: "CLOVES syndrome" [UniProt]
synonym: "Congenital lipomatous overgrowth vascular malformations epidermal nevi and skeletal/spinal abnormalities" [UniProt]
xref: MedGen:C2752042
xref: MeSH:D001165
xref: MeSH:D008067
xref: MeSH:D009506
xref: MIM:612918 "phenotype"
[Term]
id: DI-03489
name: Immunodeficiency, common variable, 7
def: "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low." []
xref: MedGen:C3542922
xref: MedGen:CN130275
xref: MeSH:D017074
xref: MIM:614699 "phenotype"
[Term]
id: DI-03490
name: Immunodeficiency, common variable, 8, with autoimmunity
def: "An autosomal recessive immunologic disorder associated with defective B-cell differentiation and decreased or absent antibody production. Affected individuals have early-childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease." []
xref: MedGen:C3553512
xref: MedGen:CN130276
xref: MeSH:D017074
xref: MIM:614700 "phenotype"
[Term]
id: DI-03491
name: Cornelia de Lange syndrome 4 with or without midline brain defects
def: "A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies." []
xref: MedGen:C3553517
xref: MedGen:CN130277
xref: MeSH:D003635
xref: MIM:614701 "phenotype"
[Term]
id: DI-03492
name: Combined oxidative phosphorylation deficiency 10
def: "An autosomal recessive disorder resulting in variable defects of mitochondrial oxidative respiration. Affected individuals present in infancy with hypertrophic cardiomyopathy and lactic acidosis. The severity is variable, but can be fatal in the most severe cases." []
synonym: "Cardiomyopathy infantile hypertrophic mitochondrial and lactic acidosis" [UniProt]
xref: MedGen:C3553529
xref: MedGen:CN130361
xref: MeSH:D028361
xref: MIM:614702 "phenotype"
[Term]
id: DI-03493
name: Ceroid lipofuscinosis, neuronal, 11
def: "A form of neuronal ceroid lipofuscinosis characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material." []
xref: MedGen:C3539123
xref: MedGen:CN130362
xref: MeSH:D009472
xref: MIM:614706 "phenotype"
[Term]
id: DI-03494
name: Brown-Vialetto-Van Laere syndrome 2
def: "An autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting resulting in respiratory insufficiency and loss of independent ambulation. Because it results from a defect in riboflavin metabolism, some patients may benefit from high-dose riboflavin supplementation." []
synonym: "Riboflavin transporter deficiency, type 2" [UniProt]
synonym: "RTD2" [UniProt]
xref: MedGen:C3553538
xref: MedGen:CN130353
xref: MeSH:D006319
xref: MeSH:D010244
xref: MIM:614707 "phenotype"
[Term]
id: DI-03495
name: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
def: "An autosomal recessive disorder characterized by childhood onset of delayed psychomotor development or psychomotor regression, sensorineural deafness, spasticity or dystonia, and increased excretion of 3-methylglutaconic acid. Brain imaging shows cerebral and cerebellar atrophy as well as lesions in the basal ganglia reminiscent of Leigh syndrome. Laboratory studies show increased serum lactate and alanine, mitochondrial oxidative phosphorylation defects, abnormal mitochondria, abnormal phosphatidylglycerol and cardiolipin profiles in fibroblasts, and abnormal accumulation of unesterified cholesterol within cells." []
synonym: "3-methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and Leigh-like syndrome" [UniProt]
synonym: "3-methylglutaconic aciduria, type VI" [UniProt]
synonym: "MEGDHEL" [UniProt]
synonym: "MGCA6" [UniProt]
xref: MedGen:C3553597
xref: MedGen:CN130585
xref: MeSH:D008661
xref: MIM:614739 "phenotype"
[Term]
id: DI-03496
name: Microphthalmia, syndromic, 11
def: "A rare clinical entity including as main characteristics microphthalmia and small optic nerves, cleft lip and palate, absence of corpus callosum, hippocampal malformations, and absence of the pineal gland. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities." []
synonym: "Microphthalmia with corpus callosum agenesis and orofacial clefting" [UniProt]
xref: MedGen:C3553077
xref: MedGen:CN130950
xref: MeSH:D008850
xref: MIM:614402 "phenotype"
[Term]
id: DI-03497
name: Mitochondrial pyruvate carrier deficiency
def: "An autosomal recessive metabolic disorder characterized by severely delayed psychomotor development, mild dysmorphic features, hepatomegaly, marked metabolic acidosis, hyperlactacidemia with normal lactate/pyruvate, and encephalopathy. Some patients have epilepsy and peripheral neuropathy." []
xref: MedGen:C3553607
xref: MedGen:CN130587
xref: MeSH:D028361
xref: MIM:614741 "phenotype"
[Term]
id: DI-03498
name: Prostate cancer, hereditary, 2
def: "A condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma." []
synonym: "Familial prostate cancer 2" [UniProt]
xref: MedGen:C3539120
xref: MedGen:CN130472
xref: MeSH:D011471
xref: MIM:614731 "phenotype"
[Term]
id: DI-03499
name: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
def: "A rare condition characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and commenced on steroid replacement therapy. Other reported features in this condition include, hypercalciuria and/or hypercalcemia, craniosynostosis, cleft palate, and scoliosis." []
synonym: "IMAGE syndrome" [UniProt]
xref: MedGen:C1846009
xref: MeSH:D000309
xref: MeSH:D001848
xref: MeSH:D005317
xref: MIM:614732 "phenotype"
[Term]
id: DI-03500
name: Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 1
def: "An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length." []
xref: MedGen:C3553617
xref: MedGen:CN130951
xref: MeSH:D000080983
xref: MeSH:D011658
xref: MIM:614742 "phenotype"
[Term]
id: DI-03501
name: Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency
def: "A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements." []
synonym: "Familial glucocorticoid deficiency 4" [UniProt]
synonym: "FGD4" [UniProt]
xref: MedGen:C3553587
xref: MedGen:CN130473
xref: MeSH:D000309
xref: MIM:614736 "phenotype"
[Term]
id: DI-03502
name: Heterotaxy, visceral, 6, autosomal
def: "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX6 clinical features are situs inversus totalis and severe complex cardiac malformations including unbalanced atrioventricular canal defects, transposition of the great arteries with severe pulmonary stenosis, right aortic arch, abnormal systemic venous return and total anomalous pulmonary venous drainage." []
xref: MedGen:C3553676
xref: MedGen:CN142516
xref: MeSH:D059446
xref: MIM:614779 "phenotype"
[Term]
id: DI-03503
name: Basal cell carcinoma 7
def: "A common malignant skin neoplasm that typically appears on hair- bearing skin, most commonly on sun-exposed areas. It is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter." []
xref: MedGen:C3553606
xref: MedGen:CN130586
xref: MeSH:D002280
xref: MIM:614740 "phenotype"
[Term]
id: DI-03504
name: Spinal muscular atrophy with progressive myoclonic epilepsy
def: "An autosomal recessive neuromuscular disorder characterized by childhood onset of motor deficits and progressive myoclonic seizures, after normal developmental milestones. Proximal muscle weakness and generalized muscular atrophy are due to degeneration of spinal motor neurons. Myoclonic epilepsy is generally resistant to conventional therapy. The disease course is progressive and leads to respiratory muscle involvement and severe handicap or early death from respiratory insufficiency." []
synonym: "Hereditary myoclonus with progressive distal muscular atrophy" [UniProt]
xref: MedGen:C1834569
xref: MeSH:D014897
xref: MeSH:D020191
xref: MIM:159950 "phenotype"
[Term]
id: DI-03505
name: Marshall-Smith syndrome
def: "A distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, intellectual disability, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. Additional skeletal findings include long and thin tubular bones, broad middle phalanges with relatively narrow distal phalanges, and scoliosis. Inheritance is autosomal dominant." []
synonym: "MSS" [UniProt]
xref: MedGen:C0265211
xref: MeSH:D001848
xref: MeSH:D019465
xref: MIM:602535 "phenotype"
[Term]
id: DI-03506
name: Malan syndrome
def: "An autosomal dominant syndrome characterized by overgrowth, advanced bone age, macrocephaly, impaired intellectual development, behavior anomalies, and dysmorphic facial features. Patients develop marfanoid habitus, with long and slender body, very low body mass, long narrow face, and arachnodactyly." []
synonym: "Malan overgrowth syndrome" [UniProt]
synonym: "Sotos syndrome 2" [UniProt]
synonym: "SOTOS2" [UniProt]
xref: MedGen:C3553660
xref: MedGen:CN130953
xref: MeSH:D058495
xref: MIM:614753 "phenotype"
[Term]
id: DI-03507
name: Facial paresis, hereditary congenital, 3
def: "A form of facial paresis, a disease characterized by isolated dysfunction of the facial nerve (CN VII). HCFP3 patients are affected by bilateral facial palsy, facial muscle weakness of muscles innervated by CN VII, hearing loss, and strabismus." []
xref: MedGen:C3553625
xref: MedGen:CN130589
xref: MeSH:D005158
xref: MIM:614744 "phenotype"
[Term]
id: DI-03508
name: Neuronopathy, distal hereditary motor, autosomal dominant 12
def: "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMND12 is characterized by onset in the first or second decade of distal muscle weakness and atrophy, primarily affecting the intrinsic hand muscles, but also affecting the lower legs, resulting in abnormal gait and pes cavus." []
synonym: "DHMN VB" [UniProt]
synonym: "DHMN5B" [UniProt]
synonym: "Distal hereditary motor neuropathy type VB" [UniProt]
synonym: "DSMAVB" [UniProt]
synonym: "HMN VB" [UniProt]
synonym: "HMN5B" [UniProt]
synonym: "Neuronopathy, distal hereditary motor, 5B" [UniProt]
synonym: "Spinal muscular atrophy distal type VB" [UniProt]
xref: MedGen:C3553656
xref: MeSH:D009134
xref: MIM:614751 "phenotype"
[Term]
id: DI-03509
name: Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
def: "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB7 is an autosomal recessive form associated with congenital nephrotic syndrome and interstitial lung disease. The respiratory and renal features predominate, and lung involvement accounts for the lethal course of the disease." []
synonym: "ILNEB" [UniProt]
synonym: "Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital" [UniProt]
xref: MedGen:C4518785
xref: MeSH:D004820
xref: MeSH:D009404
xref: MeSH:D017563
xref: MIM:614748 "phenotype"
[Term]
id: DI-03510
name: Hyperphosphatasia with impaired intellectual development syndrome 2
def: "An autosomal recessive form of intellectual disability characterized by facial dysmorphism, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures." []
synonym: "Glycosylphosphatidylinositol biosynthesis defect 6" [UniProt]
synonym: "GPIBD6" [UniProt]
xref: MedGen:C3553637
xref: MedGen:CN130636
xref: MeSH:D008607
xref: MeSH:D010760
xref: MIM:614749 "phenotype"
[Term]
id: DI-03511
name: Myasthenic syndrome, congenital, 13
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS13 is characterized by muscle weakness mostly affecting proximal limb muscles, minimal involvement of facial, ocular and bulbar muscles, and tubular aggregates present on muscle biopsy. Symptoms include difficulty walking and frequent falls. Younger patients show hypotonia and poor head control. Neurophysiological features indicate a disorder of neuromuscular transmission on electromyography." []
synonym: "CMSTA2" [UniProt]
synonym: "Myasthenic syndrome, congenital, with tubular aggregates, 2" [UniProt]
xref: MedGen:C3553645
xref: MeSH:D020294
xref: MIM:614750 "phenotype"
[Term]
id: DI-03512
name: Schimmelpenning-Feuerstein-Mims syndrome
def: "A disease characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects. Many oral manifestations have been reported, not only including hypoplastic and malformed teeth, and mucosal papillomatosis, but also ankyloglossia, hemihyperplastic tongue, intraoral nevus, giant cell granuloma, ameloblastoma, bone cysts, follicular cysts, oligodontia, and odontodysplasia. Sebaceous nevi follow the lines of Blaschko and these can continue as linear intraoral lesions, as in mucosal papillomatosis." []
synonym: "Epidermal nevus syndrome" [UniProt]
synonym: "Jadassohn nevus phakomatosis" [UniProt]
synonym: "JNP" [UniProt]
synonym: "Linear sebaceous nevus syndrome" [UniProt]
synonym: "Nevus sebaceus of Jadassohn" [UniProt]
synonym: "Organoid nevus phakomatosis" [UniProt]
synonym: "Schimmelpenning syndrome" [UniProt]
synonym: "SFM syndrome" [UniProt]
synonym: "Solomon syndrome" [UniProt]
synonym: "SS" [UniProt]
xref: MedGen:C0265318
xref: MeSH:D054000
xref: MIM:163200 "phenotype"
[Term]
id: DI-03513
name: Pityriasis rubra pilaris
def: "A rare, papulosquamous skin disease characterized by the appearance of keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma. Most cases are sporadic. The rare familial cases show autosomal dominant inheritance with incomplete penetrance and variable expression. Familial PRP usually presents at birth or appears during the first years of life and runs a chronic course. It is characterized by prominent follicular hyperkeratosis, diffuse palmoplantar keratoderma, and erythema." []
xref: MedGen:C0032027
xref: MeSH:D010916
xref: MIM:173200 "phenotype"
[Term]
id: DI-03514
name: Dyskinesia with orofacial involvement, autosomal dominant
def: "A disorder characterized by predominantly perioral and periorbital myokymia, and face, neck and upper limb dystonic/choreic movements. Initially paroxysmal and worsened by stress, the dyskinetic episodes become nearly constant by the end of the third decade of life, but in some individuals, they may diminish in frequency and severity at older ages." []
synonym: "Dyskinesia, familial, with facial myokymia" [UniProt]
synonym: "FDFM" [UniProt]
xref: MedGen:C1847627
xref: MeSH:D020385
xref: MeSH:D020820
xref: MIM:606703 "phenotype"
[Term]
id: DI-03515
name: Joubert syndrome 18
def: "A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. JBTS18 patients have vermis agenesis and the molar tooth sign as well as severe kyphoscoliosis. Other features include intrauterine growth retardation, oral anomalies, micrognathism, polydactyly and camptodactyly, joint laxity, horseshoe kidney, and ventricular septal defect." []
xref: MedGen:C3553758
xref: MedGen:CN143714
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:614815 "phenotype"
[Term]
id: DI-03516
name: Orofaciodigital syndrome 4
def: "A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD4 patients have tongue nodules, multiple frenulae, broad flat nose, hypertelorism, and short rib polydactyly with tibial dysplasia (Majewski syndrome). The presence of severe tibial aplasia differentiates OFD4 from OFD1. Additional features of cystic dysplastic kidneys and brain malformation, including occipital encephalocele, are observed in severely affected patients." []
synonym: "Baraitser-Burn syndrome" [UniProt]
synonym: "Mohr-Majewski syndrome" [UniProt]
synonym: "OFD syndrome Baraitser-Burn type" [UniProt]
synonym: "OFD syndrome with tibial defects" [UniProt]
synonym: "OFDS IV" [UniProt]
synonym: "Oral-facial-digital syndrome 4" [UniProt]
synonym: "Oral-facial-digital syndrome, type IV" [UniProt]
synonym: "Orofaciodigital syndrome IV" [UniProt]
xref: MedGen:C0406727
xref: MeSH:D009958
xref: MIM:258860 "phenotype"
[Term]
id: DI-03517
name: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
def: "A syndrome characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high- pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone- shaped epiphyses. Vertebral body ossification is also delayed." []
synonym: "SOFT syndrome" [UniProt]
xref: MedGen:C3542022
xref: MedGen:CN143712
xref: MeSH:D004392
xref: MeSH:D007039
xref: MeSH:D009260
xref: MIM:614813 "phenotype"
[Term]
id: DI-03518
name: Tremor, hereditary essential 4
def: "A common movement disorder mainly characterized by postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial muscles may also be involved. The condition can be aggravated by emotions, hunger, fatigue and temperature extremes, and may cause a functional disability or even incapacitation. Inheritance is autosomal dominant." []
xref: MedGen:C3539195
xref: MedGen:CN143717
xref: MeSH:D020329
xref: MIM:614782 "phenotype"
[Term]
id: DI-03519
name: Myopathy, centronuclear, 4
def: "A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers." []
xref: MedGen:C3553709
xref: MedGen:CN143718
xref: MeSH:D020914
xref: MIM:614807 "phenotype"
[Term]
id: DI-03520
name: Amyotrophic lateral sclerosis 18
def: "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases." []
xref: MedGen:C3553719
xref: MedGen:CN143708
xref: MeSH:D000690
xref: MIM:614808 "phenotype"
[Term]
id: DI-03521
name: Multiple sclerosis 5
def: "A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease." []
xref: MedGen:C3553728
xref: MedGen:CN143709
xref: MeSH:D009103
xref: MIM:614810 "phenotype"
[Term]
id: DI-03522
name: Adams-Oliver syndrome 3
def: "An autosomal dominant form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. AOS3 patients manifest characteristic vertex scalp defects and terminal limb defects, but without congenital heart defects, other associated defects, or immune defects." []
xref: MedGen:C3553748
xref: MedGen:CN143713
xref: MeSH:D004476
xref: MeSH:D017880
xref: MIM:614814 "phenotype"
[Term]
id: DI-03523
name: Loeys-Dietz syndrome 4
def: "An aortic aneurysm syndrome with widespread systemic involvement. LDS4 is characterized by arterial tortuosity, aortic dissection, intracranial aneurysm and subarachnoid hemorrhage, hypertelorism, bifid uvula, pectus deformity, bicuspid aortic valve, arachnodactyly, scoliosis, foot deformities, dural ectasia, joint hyperflexibility, and thin skin with easy bruising and striae." []
synonym: "Aortic and cerebral aneurysm with arterial tortuosity and skeletal manifestations" [UniProt]
xref: MedGen:C3553762
xref: MedGen:CN143719
xref: MeSH:D055947
xref: MIM:614816 "phenotype"
[Term]
id: DI-03524
name: Martin-Probst syndrome
def: "A rare neurodevelopmental disorder characterized by intellectual disability, sensorineural hearing loss, short stature and craniofacial dysmorphisms. Patients also exhibit abnormal teeth, widely spaced nipples, abnormal dermatoglyphics, renal insufficiency, and impaired haematopoiesis." []
xref: MedGen:C1845285
xref: MeSH:D038901
xref: MIM:300519 "phenotype"
[Term]
id: DI-03525
name: Neuropathy, hereditary motor and sensory, Okinawa type
def: "A neurodegenerative disorder characterized by young adult onset of proximal muscle weakness and atrophy, muscle cramps, and fasciculations, with later onset of distal sensory impairment. The disorder is slowly progressive and clinically resembles amyotrophic lateral sclerosis." []
synonym: "Hereditary motor and sensory neuropathy Okinawa" [UniProt]
synonym: "Hereditary motor and sensory neuropathy, proximal type" [UniProt]
synonym: "HMSNP" [UniProt]
xref: MedGen:C1858338
xref: MeSH:D015417
xref: MIM:604484 "phenotype"
[Term]
id: DI-03526
name: Weill-Marchesani syndrome 3
def: "A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma." []
xref: MedGen:C3553785
xref: MedGen:CN143721
xref: MeSH:D056846
xref: MIM:614819 "phenotype"
[Term]
id: DI-03527
name: Alternating hemiplegia of childhood 2
def: "A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age." []
xref: MedGen:C3553788
xref: MedGen:CN143722
xref: MeSH:D006429
xref: MIM:614820 "phenotype"
[Term]
id: DI-03528
name: Spermatogenic failure 10
def: "An infertility disorder caused by spermatogenesis defects. It results in decreased sperm motility, concentration, and multiple sperm structural defects. The most prominent feature is a defective sperm annulus, a ring structure that demarcates the midpiece and the principal piece of the sperm tail." []
synonym: "Spermatogenic failure with defective sperm annulus" [UniProt]
xref: MedGen:C3553793
xref: MedGen:CN143723
xref: MeSH:D007248
xref: MIM:614822 "phenotype"
[Term]
id: DI-03529
name: Aortic valve disease 2
def: "A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome." []
synonym: "Aortic valve stenosis" [UniProt]
synonym: "Bicuspid aortic valve" [UniProt]
xref: MedGen:C3542024
xref: MeSH:D001024
xref: MIM:614823 "phenotype"
[Term]
id: DI-03530
name: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
def: "An autosomal dominant neurodevelopmental disorder characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life. Other features may include neonatal hypotonia, dysarthria, and dysmetria. Brain imaging in some patients shows cerebellar atrophy. Dysmorphic facial features are variable." []
synonym: "CANPMR" [UniProt]
xref: MedGen:C3553661
xref: MedGen:CN142515
xref: MeSH:D002524
xref: MeSH:D008607
xref: MIM:614756 "phenotype"
[Term]
id: DI-03531
name: Short stature, optic nerve atrophy, and Pelger-Huet anomaly
def: "An autosomal recessive syndrome characterized by severe postnatal growth retardation, facial dysmorphism with senile face, small hands and feet, normal intelligence, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly), and optic atrophy with loss of visual acuity and color vision." []
synonym: "SOPH syndrome" [UniProt]
xref: MedGen:C3541319
xref: MeSH:D004392
xref: MeSH:D009896
xref: MeSH:D010381
xref: MIM:614800 "phenotype"
[Term]
id: DI-03532
name: Interstitial nephritis, karyomegalic
def: "A rare kidney disease characterized by chronic tubulointerstitial nephritis associated with massively enlarged tubular epithelial cell nuclei. The clinical picture is associated with recurrent upper respiratory tract infections in addition to chronic kidney disease beginning in the third decade of life." []
synonym: "Karyomegalic tubulointerstitial nephritis" [UniProt]
synonym: "KTN" [UniProt]
xref: MedGen:C3553774
xref: MedGen:CN143720
xref: MeSH:D009395
xref: MIM:614817 "phenotype"
[Term]
id: DI-03533
name: Wiedemann-Steiner syndrome
def: "A syndrome characterized by hairy elbows (hypertrichosis cubiti), intellectual disability, a distinctive facial appearance, and short stature. Facial characteristics include long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting and vertically narrow palpebral fissures." []
synonym: "Hairy elbows short stature facial dysmorphism and developmental delay" [UniProt]
synonym: "Hypertrichosis cubiti facial dysmorphism and developmental delay" [UniProt]
synonym: "WSS" [UniProt]
xref: MedGen:C1854630
xref: MeSH:D006983
xref: MIM:605130 "phenotype"
[Term]
id: DI-03534
name: Leber congenital amaurosis 9
def: "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus." []
xref: MedGen:C1837873
xref: MeSH:D057130
xref: MIM:608553 "phenotype"
[Term]
id: DI-03535
name: Deafness, autosomal recessive, 98
def: "A form of non-syndromic sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:C3553932
xref: MedGen:CN158714
xref: MeSH:D006319
xref: MIM:614861 "phenotype"
[Term]
id: DI-03536
name: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8
def: "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease." []
synonym: "Muscle-eye-brain disease GTDC2-related" [UniProt]
synonym: "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8" [UniProt]
synonym: "Walker-Warburg syndrome GTDC2-related" [UniProt]
xref: MedGen:C3553813
xref: MedGen:CN143953
xref: MeSH:D058494
xref: MIM:614830 "phenotype"
[Term]
id: DI-03537
name: Amelogenesis imperfecta, hypomaturation type, 2A4
def: "A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel." []
synonym: "Amelogenesis imperfecta pigmented hypomaturation type IIA4" [UniProt]
xref: MedGen:C3553830
xref: MedGen:CN143956
xref: MeSH:D000567
xref: MIM:614832 "phenotype"
[Term]
id: DI-03538
name: Nephronophthisis 15
def: "An autosomal recessive disorder characterized by the association of nephronophthisis with Leber congenital amaurosis and retinal degeneration, often resulting in blindness during childhood. Additional features include seizures, cerebellar vermis hypoplasia, facial dysmorphism, bronchiectasis and liver failure. Nephronophthisis is a chronic tubulo-interstitial nephritis that progresses to end- stage renal failure." []
xref: MedGen:C3541853
xref: MedGen:CN158703
xref: MeSH:D052177
xref: MIM:614845 "phenotype"
[Term]
id: DI-03539
name: Ciliary dyskinesia, primary, 18
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome." []
synonym: "ICS18" [UniProt]
synonym: "Immotile cilia syndrome 18" [UniProt]
synonym: "Primary ciliary dyskinesia 18 with or without situs inversus" [UniProt]
xref: MedGen:C3543825
xref: MedGen:CN158803
xref: MeSH:D007619
xref: MIM:614874 "phenotype"
[Term]
id: DI-03540
name: Keratoderma, palmoplantar, punctate 1A
def: "An autosomal dominant dermatological disorder characterized by multiple hyperkeratotic, centrally indented, papules that develop in early adolescence, or later, and are irregularly distributed on the palms and soles (other palmoplantar keratoses have mostly diffuse hyperkeratinization). In mechanically irritated areas, confluent plaques can be found. Interfamilial and intrafamilial severity shows broad variation. In some cases, PPKP1 is associated with the development of early- and late-onset malignancies, including squamous cell carcinoma." []
synonym: "Keratodermia palmoplantaris papulosa Buschke-Fischer-Brauer type" [UniProt]
synonym: "Keratosis palmoplantaris papulosa" [UniProt]
synonym: "Keratosis punctate palmoplantaris Buschke-Fisher-Brauer type" [UniProt]
synonym: "KPPP1" [UniProt]
synonym: "PPKP1" [UniProt]
synonym: "Punctate palmoplantar keratoderma type I" [UniProt]
synonym: "Punctate palmoplantar keratoderma type IA" [UniProt]
xref: MedGen:C1835662
xref: MeSH:D007645
xref: MIM:148600 "phenotype"
[Term]
id: DI-03541
name: Cornelia de Lange syndrome 5
def: "A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies." []
xref: MedGen:C3550903
xref: MedGen:CN159225
xref: MeSH:D003635
xref: MIM:300882 "phenotype"
[Term]
id: DI-03542
name: Spinocerebellar ataxia, autosomal recessive, 13
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR13 is characterized by delayed psychomotor development beginning in infancy. Affected individuals show mild to profound intellectual disability with poor or absent speech as well as gait and stance ataxia and hyperreflexia." []
xref: MedGen:C3553816
xref: MedGen:CN143954
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:614831 "phenotype"
[Term]
id: DI-03543
name: Encephalopathy, acute, infection-induced, 5, herpes-specific
def: "A rare complication of human herpesvirus 1 (HHV-1) infection, occurring in only a small minority of HHV-1 infected individuals. It is characterized by hemorrhagic necrosis of parts of the temporal and frontal lobes. Onset is over several days and involves fever, headache, seizures, stupor, and often coma, frequently with a fatal outcome." []
synonym: "Encephalopathy, acute, infection-induced, 5" [UniProt]
synonym: "Herpes simplex encephalitis 3" [UniProt]
synonym: "HSE3" [UniProt]
synonym: "Infection-induced acute encephalopathy 5" [UniProt]
xref: MedGen:C3553868
xref: MeSH:D020803
xref: MIM:614849 "phenotype"
[Term]
id: DI-03544
name: Encephalopathy, acute, infection-induced, 6, herpes-specific
def: "A rare complication of human herpesvirus 1 (HHV-1) infection, occurring in only a small minority of HHV-1 infected individuals. It is characterized by hemorrhagic necrosis of parts of the temporal and frontal lobes. Onset is over several days and involves fever, headache, seizures, stupor, and often coma, frequently with a fatal outcome." []
synonym: "Encephalopathy, acute, infection-induced, 6" [UniProt]
synonym: "Herpes simplex encephalitis 4" [UniProt]
synonym: "HSE4" [UniProt]
xref: MedGen:C3553869
xref: MeSH:D020803
xref: MIM:614850 "phenotype"
[Term]
id: DI-03545
name: Seckel syndrome 7
def: "A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability." []
xref: MedGen:C3553870
xref: MedGen:CN158704
xref: MeSH:D004392
xref: MeSH:D008831
xref: MIM:614851 "phenotype"
[Term]
id: DI-03546
name: Microcephaly 9, primary, autosomal recessive
def: "A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder." []
xref: MedGen:C3553886
xref: MedGen:CN159222
xref: MeSH:D008831
xref: MIM:614852 "phenotype"
[Term]
id: DI-03547
name: Nephronophthisis 14
def: "An autosomal recessive disorder manifesting as infantile-onset kidney disease, cerebellar vermis hypoplasia, and situs inversus. Nephronophthisis is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts." []
xref: MedGen:C3539071
xref: MedGen:CN158702
xref: MeSH:D052177
xref: MIM:614844 "phenotype"
[Term]
id: DI-03548
name: Joubert syndrome 19
def: "A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). JBTS19 patients have polycystic kidney disease, Leber congenital amaurosis, cerebellar vermis hypoplasia, and breathing abnormality." []
xref: MedGen:C3553846
xref: MedGen:CN158706
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:614844 "phenotype"
[Term]
id: DI-03549
name: Epilepsy, idiopathic generalized 12
def: "A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. In some EIG12 patients seizures may remit with age." []
synonym: "Susceptibility to idiopathic generalized epilepsy 12" [UniProt]
xref: MedGen:C3553859
xref: MedGen:CN158708
xref: MeSH:D004829
xref: MIM:614847 "phenotype"
[Term]
id: DI-03550
name: Dystonia 9
def: "An autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most patients show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia." []
synonym: "CSE" [UniProt]
synonym: "Dystonia-9" [UniProt]
synonym: "Episodic choreoathetosis/spasticity" [UniProt]
synonym: "Kinesigenic choreoathetosis with episodic ataxia and spasticity" [UniProt]
synonym: "Paroxysmal choreoathetosis with episodic ataxia" [UniProt]
xref: MedGen:C1832855
xref: MeSH:D002819
xref: MeSH:D009128
xref: MIM:601042 "phenotype"
[Term]
id: DI-03551
name: Deafness, autosomal recessive, 48
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB48 patients have prelingual onset of severe to profound sensorineural hearing loss affecting all frequencies." []
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 48" [UniProt]
synonym: "Non-syndromic sensorineural deafness autosomal recessive type 48" [UniProt]
xref: MedGen:C1836199
xref: MeSH:D006319
xref: MIM:609439 "phenotype"
[Term]
id: DI-03552
name: Usher syndrome 1J
def: "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness." []
synonym: "Usher syndrome type IJ" [UniProt]
synonym: "Usher's syndrome type 1J" [UniProt]
xref: MedGen:C3553944
xref: MedGen:CN158799
xref: MeSH:D052245
xref: MIM:614869 "phenotype"
[Term]
id: DI-03553
name: Deafness, autosomal recessive, 93
def: "A form of non-syndromic deafness characterized by stable, bilateral, symmetric, prelingual moderate to severe deafness. Hearing impairment is slightly more pronounced in the mid-frequencies, resulting in a distinctive shallow U-shaped audiogram." []
synonym: "Non-syndromic neurosensory deafness autosomal recessive type 93" [UniProt]
xref: MedGen:CN159249
xref: MeSH:D006319
xref: MIM:614899 "phenotype"
[Term]
id: DI-03554
name: Intellectual developmental disorder, X-linked, syndromic, Wilson-Turner type
def: "A neurologic disorder characterized by severe intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Affected females have a milder phenotype than affected males." []
synonym: "MRXS6" [UniProt]
synonym: "MRXSWT" [UniProt]
synonym: "Wilson-Turner syndrome" [UniProt]
xref: MedGen:C1839736
xref: MeSH:D038901
xref: MIM:309585 "phenotype"
[Term]
id: DI-03555
name: CFHR5 deficiency
def: "A progressive disease characterized by glomerulonephritis, hematuria, renal failure, end-stage renal disease, subendothelial and mesangial glomerular C3 deposits, mesangial matrix expansion, increased glomerular cellularity, and segmental capillary wall thickening. Hematuria may become apparent after respiratory infections." []
synonym: "Nephropathy due to CFHR5 deficiency" [UniProt]
xref: MedGen:C3553720
xref: MedGen:CN158539
xref: MeSH:D005921
xref: MIM:614809 "phenotype"
[Term]
id: DI-03556
name: Microcephaly, short stature, and polymicrogyria with or without seizures
def: "A disease characterized by many irregular small gyri in the brain surface and fusion of the molecular layer over multiple small gyri, which gives a festooned appearance to the cortical surface, without abnormal neuronal migration. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. MSSP patients have moderate to severe intellectual disability, poor speech, dysarthria and seizures." []
synonym: "PMGYS" [UniProt]
synonym: "Polymicrogyria with seizures" [UniProt]
xref: MedGen:C3553831
xref: MedGen:CN143955
xref: MeSH:D054220
xref: MIM:614833 "phenotype"
[Term]
id: DI-03557
name: Osteogenesis imperfecta 13
def: "An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI13 is characterized by normal teeth, faint blue sclerae, severe growth deficiency, severe bone deformity, and recurrent fractures affecting both upper and lower limbs." []
synonym: "OI type XIII" [UniProt]
synonym: "OI-XIII" [UniProt]
synonym: "Osteogenesis imperfecta type XIII" [UniProt]
xref: MedGen:C3553887
xref: MedGen:CN158711
xref: MeSH:D010013
xref: MIM:614856 "phenotype"
[Term]
id: DI-03558
name: Methylmalonic aciduria and homocystinuria type cblJ
def: "A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include feeding difficulties, poor growth, hypotonia, lethargy, anemia, and developmental delay." []
xref: MedGen:C3553915
xref: MedGen:CN158715
xref: MeSH:D006712
xref: MeSH:D008661
xref: MIM:614857 "phenotype"
[Term]
id: DI-03559
name: Charcot-Marie-Tooth disease 4F
def: "A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4F is characterized by distal sensory impairment and distal muscle weakness and atrophy affecting the lower more than the upper limbs. The age at onset is variable and can range from childhood to adult years. When the onset is in infancy, the phenotype is characterized as Dejerine-Sottas syndrome." []
synonym: "Charcot-Marie-Tooth disease demyelinating autosomal recessive 4F" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 4F" [UniProt]
xref: MedGen:C3540453
xref: MedGen:CN068842
xref: MeSH:D002607
xref: MeSH:D015417
xref: MIM:614895 "phenotype"
[Term]
id: DI-03560
name: Ciliary dyskinesia, primary, 5
def: "An autosomal recessive form of primary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD5 is characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus." []
synonym: "ICS5" [UniProt]
synonym: "Immotile cilia syndrome 5" [UniProt]
synonym: "Primary ciliary dyskinesia 5 with or without situs inversus" [UniProt]
xref: MedGen:C1837615
xref: MeSH:D007619
xref: MIM:608647 "phenotype"
[Term]
id: DI-03561
name: Methylmalonic aciduria and homocystinuria, cblX type
def: "An X-linked recessive metabolic disorder characterized by severely delayed psychomotor development apparent in infancy, failure to thrive, impaired intellectual development, and intractable epilepsy. Additional features may include microcephaly and choreoathetosis." []
synonym: "Intellectual developmental disorder, X-linked 3" [UniProt]
synonym: "Methylmalonic aciduria and homocysteinemia , cblX type" [UniProt]
synonym: "MRX3" [UniProt]
synonym: "XLID3" [UniProt]
xref: MedGen:C0796208
xref: MeSH:D038901
xref: MIM:309541 "phenotype"
[Term]
id: DI-03562
name: Sinoatrial node dysfunction and deafness
def: "A disease characterized by congenital severe to profound deafness without vestibular dysfunction, associated with episodic syncope due to intermittent pronounced bradycardia." []
xref: MedGen:C3554018
xref: MedGen:CN159224
xref: MeSH:D001146
xref: MIM:614896 "phenotype"
[Term]
id: DI-03563
name: Osteogenesis imperfecta 5
def: "An autosomal dominant form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI5 patients manifest moderate to severe bone fragility, calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation." []
synonym: "OI type V" [UniProt]
synonym: "OI-V" [UniProt]
synonym: "Osteogenesis imperfecta type V" [UniProt]
xref: MedGen:C1970414
xref: MeSH:D010013
xref: MIM:610967 "phenotype"
[Term]
id: DI-03564
name: Ciliary dyskinesia, primary, 19
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome." []
synonym: "ICS19" [UniProt]
synonym: "Immotile cilia syndrome 19" [UniProt]
synonym: "Primary ciliary dyskinesia 19 with or without situs inversus" [UniProt]
xref: MedGen:C3543826
xref: MedGen:CN160616
xref: MeSH:D007619
xref: MIM:614935 "phenotype"
[Term]
id: DI-03565
name: Deafness, autosomal recessive, 84B
def: "A form of non-syndromic deafness characterized by congenital, non- progressive, sensorineural, symmetric hearing loss. Vestibular hypofunction is rarely observed." []
xref: MedGen:C3554159
xref: MedGen:CN161006
xref: MeSH:D006319
xref: MIM:614944 "phenotype"
[Term]
id: DI-03566
name: Combined oxidative phosphorylation deficiency 11
def: "A severe, multisystemic, autosomal recessive, disorder characterized by deficiencies of multiple mitochondrial respiratory enzymes leading to neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures." []
synonym: "Infantile encephaloneuromyopathy due to mitochondrial translation defect" [UniProt]
xref: MedGen:C3554067
xref: MedGen:CN160490
xref: MeSH:D017237
xref: MIM:614922 "phenotype"
[Term]
id: DI-03567
name: Branched-chain ketoacid dehydrogenase kinase deficiency
def: "A metabolic disorder characterized by autism, epilepsy, intellectual disability, and reduced branched-chain amino acids." []
xref: MedGen:C3554078
xref: MedGen:CN160491
xref: MeSH:D001321
xref: MeSH:D004827
xref: MeSH:D008607
xref: MeSH:D020739
xref: MIM:614923 "phenotype"
[Term]
id: DI-03568
name: Hypogonadotropic hypogonadism 8 with or without anosmia
def: "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH)." []
xref: MedGen:C3553841
xref: MedGen:CN143960
xref: MeSH:D007006
xref: MIM:614837 "phenotype"
[Term]
id: DI-03569
name: Hypogonadotropic hypogonadism 9 with or without anosmia
def: "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH)." []
xref: MedGen:C3553842
xref: MedGen:CN143961
xref: MeSH:D007006
xref: MIM:614838 "phenotype"
[Term]
id: DI-03570
name: Hypogonadotropic hypogonadism 10 with or without anosmia
def: "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH)." []
xref: MedGen:C3553843
xref: MedGen:CN143962
xref: MeSH:D007006
xref: MIM:614839 "phenotype"
[Term]
id: DI-03571
name: Hypogonadotropic hypogonadism 11 with or without anosmia
def: "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH)." []
xref: MedGen:C3553844
xref: MedGen:CN143963
xref: MeSH:D007006
xref: MIM:614840 "phenotype"
[Term]
id: DI-03572
name: Hypogonadotropic hypogonadism 12 with or without anosmia
def: "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH)." []
synonym: "Eunuchoidism, familial hypogonadotropic" [UniProt]
synonym: "FIGD" [UniProt]
synonym: "Gonadotropin deficiency, familial idiopathic" [UniProt]
xref: MedGen:C3553845
xref: MedGen:CN143964
xref: MeSH:D007006
xref: MIM:614841 "phenotype"
[Term]
id: DI-03573
name: Hypogonadotropic hypogonadism 13 with or without anosmia
def: "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH)." []
xref: MedGen:C3541462
xref: MedGen:CN143965
xref: MeSH:D007006
xref: MIM:614842 "phenotype"
[Term]
id: DI-03574
name: Hypogonadotropic hypogonadism 14 with or without anosmia
def: "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH)." []
xref: MedGen:C3540450
xref: MedGen:CN158713
xref: MeSH:D007006
xref: MIM:614858 "phenotype"
[Term]
id: DI-03575
name: Hypogonadotropic hypogonadism 15 with or without anosmia
def: "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH)." []
xref: MedGen:C3553977
xref: MedGen:CN158801
xref: MeSH:D007006
xref: MIM:614880 "phenotype"
[Term]
id: DI-03576
name: Hypogonadotropic hypogonadism 16 with or without anosmia
def: "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH)." []
xref: MedGen:C3554021
xref: MedGen:CN159226
xref: MeSH:D007006
xref: MIM:614897 "phenotype"
[Term]
id: DI-03577
name: Peroxisome biogenesis disorder 1B
def: "A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid." []
synonym: "Autosomal neonatal adrenoleukodystrophy" [UniProt]
synonym: "Infantile phytanic acid storage disease" [UniProt]
synonym: "Infantile Refsum disease" [UniProt]
synonym: "Peroxisome biogenesis disorder (NALD/IRD)" [UniProt]
synonym: "Peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease)" [UniProt]
synonym: "Peroxisome biogenesis disorder 1B (NALD/IRD)" [UniProt]
xref: MedGen:CN168921
xref: MeSH:D052919
xref: MIM:601539 "phenotype"
[Term]
id: DI-03578
name: Peroxisome biogenesis disorder complementation group 2
def: "A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS)." []
synonym: "CG1" [UniProt]
synonym: "PBD-CGE" [UniProt]
synonym: "Peroxisome biogenesis disorder complementation group E" [UniProt]
xref: MedGen:C3550274
xref: MeSH:D018901
xref: MIM:214110 "phenotype"
[Term]
id: DI-03579
name: Peroxisome biogenesis disorder 2A
def: "A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and characterized clinically by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life." []
synonym: "Peroxisome biogenesis disorder 2A (Zellweger)" [UniProt]
xref: MedGen:C1859228
xref: MedGen:C3550273
xref: MeSH:D015211
xref: MIM:214110 "phenotype"
[Term]
id: DI-03580
name: Peroxisome biogenesis disorder 3A
def: "A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life." []
synonym: "Peroxisome biogenesis disorder 3A (Zellweger)" [UniProt]
xref: MedGen:C3553929
xref: MedGen:CN159227
xref: MeSH:D015211
xref: MIM:614859 "phenotype"
[Term]
id: DI-03581
name: Peroxisome biogenesis disorder 4A
def: "A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life." []
synonym: "Peroxisome biogenesis disorder 4A (Zellweger)" [UniProt]
xref: MedGen:C3553936
xref: MedGen:CN159228
xref: MeSH:D015211
xref: MIM:614862 "phenotype"
[Term]
id: DI-03582
name: Peroxisome biogenesis disorder 4B
def: "A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid." []
synonym: "Peroxisome biogenesis disorder 4B (NALD/IRD)" [UniProt]
synonym: "Peroxisome biogenesis disorder 4B (neonatal adrenoleukodystrophy/infantile Refsum disease)" [UniProt]
xref: MedGen:C3553937
xref: MedGen:CN159229
xref: MeSH:D052919
xref: MIM:614863 "phenotype"
[Term]
id: DI-03583
name: Peroxisome biogenesis disorder 5A
def: "A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life." []
synonym: "Peroxisome biogenesis disorder 5A (Zellweger)" [UniProt]
xref: MedGen:C3553940
xref: MedGen:CN159230
xref: MeSH:D015211
xref: MIM:614866 "phenotype"
[Term]
id: DI-03584
name: Peroxisome biogenesis disorder 5B
def: "A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid." []
synonym: "Peroxisome biogenesis disorder 5B (NALD/IRD)" [UniProt]
synonym: "Peroxisome biogenesis disorder 5B (neonatal adrenoleukodystrophy/infantile Refsum disease)" [UniProt]
xref: MedGen:C3542026
xref: MedGen:CN159231
xref: MeSH:D052919
xref: MIM:614867 "phenotype"
[Term]
id: DI-03585
name: Peroxisome biogenesis disorder 6A
def: "A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life." []
synonym: "Peroxisome biogenesis disorder 6A (Zellweger)" [UniProt]
xref: MedGen:C3553947
xref: MedGen:CN159232
xref: MeSH:D015211
xref: MIM:614870 "phenotype"
[Term]
id: DI-03586
name: Peroxisome biogenesis disorder 6B
def: "A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid." []
synonym: "Peroxisome biogenesis disorder 6B (NALD/IRD)" [UniProt]
synonym: "Peroxisome biogenesis disorder 6B (neonatal adrenoleukodystrophy/infantile Refsum disease)" [UniProt]
xref: MedGen:C3553948
xref: MedGen:CN159233
xref: MeSH:D052919
xref: MIM:614871 "phenotype"
[Term]
id: DI-03587
name: Peroxisome biogenesis disorder 7A
def: "A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life." []
synonym: "Peroxisome biogenesis disorder 7A (Zellweger)" [UniProt]
xref: MedGen:C3553949
xref: MedGen:CN159234
xref: MeSH:D015211
xref: MIM:614872 "phenotype"
[Term]
id: DI-03588
name: Peroxisome biogenesis disorder 7B
def: "A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid." []
synonym: "Peroxisome biogenesis disorder 7B (NALD/IRD)" [UniProt]
synonym: "Peroxisome biogenesis disorder 7B (neonatal adrenoleukodystrophy/infantile Refsum disease)" [UniProt]
xref: MedGen:C3553951
xref: MedGen:CN159235
xref: MeSH:D052919
xref: MIM:614873 "phenotype"
[Term]
id: DI-03589
name: Peroxisome biogenesis disorder 8A
def: "A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life." []
synonym: "Peroxisome biogenesis disorder 8A (Zellweger)" [UniProt]
xref: MedGen:C3553959
xref: MedGen:CN159236
xref: MeSH:D015211
xref: MIM:614876 "phenotype"
[Term]
id: DI-03590
name: Peroxisome biogenesis disorder 8B
def: "A relatively mild peroxisome biogenesis disorder. Affected individuals manifest lower limb spasticity and ataxia resulting in wheelchair dependence. Other features include optic atrophy, cataracts, dysarthria, dysphagia, constipation, and a peripheral demyelinating motor and sensory neuropathy. Cognition is relatively preserved. Biochemical abnormalities are mild and include increased very-long- chain fatty acids (VLCFA), increased bile acid intermediates, and increased branched chain fatty acids. Phytanic acid alpha-oxidation, pristanic acid beta-oxidation, and red cell plasmalogen are normal." []
xref: MedGen:C3553960
xref: MedGen:CN159237
xref: MeSH:D018901
xref: MIM:614877 "phenotype"
[Term]
id: DI-03591
name: Peroxisome biogenesis disorder 9B
def: "A peroxisome biogenesis disorder with unusually mild clinical and biochemical manifestations. Affected individuals manifest a variable phenotype similar to, and in some cases indistinguishable from, classic Refsum disease. Variable features include ocular abnormalities, sensorimotor neuropathy, ichthyosis, deafness, chondrodysplasia punctata without rhizomelia or growth failure." []
synonym: "Atypical peroxisome biogenesis disorder PEX7-related" [UniProt]
synonym: "Refsum disease adult 2" [UniProt]
xref: MedGen:C2749346
xref: MedGen:CN159238
xref: MeSH:D012035
xref: MIM:614879 "phenotype"
[Term]
id: DI-03592
name: Peroxisome biogenesis disorder 10A
def: "A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life." []
synonym: "Peroxisome biogenesis disorder 10A (Zellweger)" [UniProt]
xref: MedGen:C3553999
xref: MedGen:CN159239
xref: MeSH:D015211
xref: MIM:614882 "phenotype"
[Term]
id: DI-03593
name: Peroxisome biogenesis disorder 11A
def: "A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life." []
synonym: "Peroxisome biogenesis disorder 11A (Zellweger)" [UniProt]
xref: MedGen:C3554000
xref: MedGen:CN159240
xref: MeSH:D015211
xref: MIM:614883 "phenotype"
[Term]
id: DI-03594
name: Peroxisome biogenesis disorder 11B
def: "A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid." []
synonym: "Peroxisome biogenesis disorder 11B (NALD/IRD)" [UniProt]
synonym: "Peroxisome biogenesis disorder 11B (neonatal adrenoleukodystrophy/infantile Refsum disease)" [UniProt]
xref: MedGen:C3554001
xref: MedGen:CN159241
xref: MeSH:D052919
xref: MIM:614885 "phenotype"
[Term]
id: DI-03595
name: Peroxisome biogenesis disorder 12A
def: "A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life." []
synonym: "Peroxisome biogenesis disorder 12A (Zellweger)" [UniProt]
xref: MedGen:C3554002
xref: MedGen:CN159242
xref: MeSH:D015211
xref: MIM:614886 "phenotype"
[Term]
id: DI-03596
name: Peroxisome biogenesis disorder 13A
def: "A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life." []
synonym: "Peroxisome biogenesis disorder 13A (Zellweger)" [UniProt]
xref: MedGen:C3554004
xref: MedGen:CN159243
xref: MeSH:D015211
xref: MIM:614887 "phenotype"
[Term]
id: DI-03597
name: Peroxisome biogenesis disorder 14B
def: "An autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy. Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, are observed." []
xref: MedGen:C3554055
xref: MedGen:CN160486
xref: MeSH:D018901
xref: MIM:614920 "phenotype"
[Term]
id: DI-03598
name: Congenital heart defects, multiple types, 1, X-linked
def: "A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions." []
synonym: "X-linked congenital heart defects nonsyndromic 1" [UniProt]
synonym: "X-linked congenital heart disease nonsyndromic 1" [UniProt]
xref: MedGen:C3151867
xref: MeSH:D006330
xref: MIM:306955 "phenotype"
[Term]
id: DI-03599
name: Joubert syndrome 20
def: "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease." []
xref: MedGen:C3554235
xref: MedGen:CN162975
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:614970 "phenotype"
[Term]
id: DI-03600
name: Immunodeficiency 110 with lymphoproliferation
def: "An autosomal recessive, primary T-cell immunodeficiency syndrome characterized by progressive loss of naive T-cells, recurrent bacterial, viral, and fungal infections, warts, and abscesses, autoimmune manifestations, and cardiac malformations, including atrial septal defect. Patients are at risk for developing lymphoproliferative disorders or lymphoma." []
synonym: "MST1 deficiency" [UniProt]
synonym: "STK4 deficiency" [UniProt]
synonym: "T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations" [UniProt]
synonym: "TIIAC" [UniProt]
xref: MedGen:C3553943
xref: MedGen:CN158716
xref: MeSH:D007153
xref: MIM:614868 "phenotype"
[Term]
id: DI-03601
name: Autoinflammation, antibody deficiency, and immune dysregulation
def: "An autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies." []
xref: MedGen:C3553961
xref: MedGen:CN158804
xref: MeSH:D007153
xref: MIM:614878 "phenotype"
[Term]
id: DI-03602
name: Neuronopathy, distal hereditary motor, autosomal recessive 5
def: "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMNR5 is characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes." []
synonym: "Distal spinal muscular atrophy, autosomal recessive, 5" [UniProt]
synonym: "DSMA5" [UniProt]
synonym: "Neuropathy, distal hereditary motor, autosomal recessive 5" [UniProt]
xref: MedGen:C4749918
xref: MeSH:D009134
xref: MIM:614881 "phenotype"
[Term]
id: DI-03603
name: Neuromyotonia and axonal neuropathy, autosomal recessive
def: "An autosomal recessive neurologic disorder characterized by onset in the first or second decade of a peripheral axonal neuropathy predominantly affecting motor more than sensory nerves. The axonal neuropathy is reminiscent of Charcot-Marie-Tooth disease type 2 and distal hereditary motor neuropathy. Individuals with NMAN also have delayed muscle relaxation and action myotonia associated with neuromyotonic discharges on needle EMG resulting from hyperexcitability of the peripheral nerves." []
synonym: "Gamstorp-Wohlfart syndrome" [UniProt]
synonym: "Myokymia myotonia and muscle wasting" [UniProt]
xref: MedGen:CN074193
xref: MeSH:D020386
xref: MIM:137200 "phenotype"
[Term]
id: DI-03604
name: Facioscapulohumeral muscular dystrophy 2, digenic
def: "A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles." []
synonym: "Digenic facioscapulohumeral muscular dystrophy" [UniProt]
synonym: "Digenic FSHD2" [UniProt]
synonym: "Facioscapulohumeral muscular dystrophy type 1B" [UniProt]
synonym: "FSHD1B" [UniProt]
xref: MedGen:C1834671
xref: MeSH:D020391
xref: MIM:158901 "phenotype"
[Term]
id: DI-03605
name: Immunodeficiency 54
def: "An autosomal recessive disorder characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of natural killer cells, and recurrent viral infections, most often affecting the respiratory tract and leading to respiratory failure. Affected individuals also have adrenal insufficiency requiring corticosteroid replacement therapy and may have an increased susceptibility to cancer." []
synonym: "Familial isolated natural killer cell deficiency" [UniProt]
synonym: "Natural killer cell and glucocorticoid deficiency with DNA repair defect" [UniProt]
synonym: "NKCD" [UniProt]
synonym: "NKGCD" [UniProt]
xref: MedGen:C1864947
xref: MeSH:D000309
xref: MeSH:D007153
xref: MeSH:D049914
xref: MIM:609981 "phenotype"
[Term]
id: DI-03606
name: Developmental and epileptic encephalopathy 36
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. Some DEE36 patients may present with an abnormal isoelectric focusing of serum transferrin, consistent with a diagnostic classification of congenital disorder of glycosylation type I. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions." []
synonym: "CDG Is" [UniProt]
synonym: "CDG-Is" [UniProt]
synonym: "CDG1S" [UniProt]
synonym: "CDGIs" [UniProt]
synonym: "Congenital disorder of glycosylation 1s" [UniProt]
synonym: "Congenital disorder of glycosylation type Is" [UniProt]
synonym: "EIEE36" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 36" [UniProt]
xref: MedGen:C3550904
xref: MedGen:CN160488
xref: MeSH:D013036
xref: MeSH:D018981
xref: MIM:300884 "phenotype"
[Term]
id: DI-03607
name: Spastic paraplegia 53, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. SPG53 is characterized by pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis." []
xref: MedGen:C3539494
xref: MedGen:CN160291
xref: MeSH:D015419
xref: MIM:614898 "phenotype"
[Term]
id: DI-03608
name: Diamond-Blackfan anemia 11
def: "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies." []
xref: MedGen:C3554042
xref: MedGen:CN160292
xref: MeSH:D029503
xref: MIM:614900 "phenotype"
[Term]
id: DI-03609
name: Lethal congenital contracture syndrome 4
def: "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth." []
xref: MedGen:C3554046
xref: MedGen:CN160485
xref: MeSH:D001176
xref: MIM:614915 "phenotype"
[Term]
id: DI-03610
name: Ventricular tachycardia, catecholaminergic polymorphic, 4
def: "An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT4 inheritance is autosomal dominant." []
synonym: "Bidirectional tachycardia" [UniProt]
synonym: "Double tachycardia induced by catecholamines" [UniProt]
synonym: "Malignant paroxysmal ventricular tachycardia" [UniProt]
synonym: "Multifocal ventricular premature beats" [UniProt]
synonym: "Paroxysmal ventricular fibrillation" [UniProt]
synonym: "Stress-induced polymorphic ventricular tachycardia" [UniProt]
synonym: "Syncopal paroxysmal tachycardia" [UniProt]
synonym: "Syncopal tachyarythmia" [UniProt]
synonym: "VTSIP" [UniProt]
xref: MedGen:C3554047
xref: MedGen:CN160483
xref: MeSH:D017180
xref: MIM:614916 "phenotype"
[Term]
id: DI-03611
name: Congenital disorder of glycosylation 1T
def: "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions." []
synonym: "CDG It" [UniProt]
synonym: "CDG-It" [UniProt]
synonym: "CDGIt" [UniProt]
synonym: "Congenital disorder of glycosylation type It" [UniProt]
synonym: "Glycogen storage disease XIV" [UniProt]
synonym: "GSD XIV" [UniProt]
synonym: "GSD14" [UniProt]
synonym: "PGM1 deficiency" [UniProt]
synonym: "Phosphoglucomutase 1 deficiency" [UniProt]
xref: MedGen:C3554056
xref: MedGen:CN160489
xref: MeSH:D006008
xref: MeSH:D018981
xref: MIM:614921 "phenotype"
[Term]
id: DI-03612
name: Combined oxidative phosphorylation deficiency 12
def: "An autosomal recessive, mitochondrial, neurologic disorder characterized by onset in infancy of hypotonia and delayed psychomotor development, or early developmental regression, associated with T2- weighted hyperintensities in the deep cerebral white matter, brainstem, and cerebellar white matter. Serum lactate is increased due to a defect in mitochondrial respiration. There are 2 main phenotypic groups: those with a milder disease course and some recovery of skills after age 2 years, and those with a severe disease course resulting in marked disability." []
synonym: "Leukoencephalopathy with thalamus and brainstem involvement and high lactate" [UniProt]
synonym: "LTBL" [UniProt]
xref: MedGen:C3554079
xref: MedGen:CN160606
xref: MeSH:D017237
xref: MIM:614924 "phenotype"
[Term]
id: DI-03613
name: Combined oxidative phosphorylation deficiency 13
def: "A mitochondrial disorder characterized by early onset severe encephalomyopathy, dystonia, choreoathetosis, bucofacial dyskinesias and combined mitochondrial respiratory chain deficiency. Nerve conductions velocities are decreased. Levels of plasma and cerebrospinal fluid lactate are increased." []
xref: MedGen:C3554129
xref: MedGen:CN160614
xref: MeSH:D017237
xref: MIM:614932 "phenotype"
[Term]
id: DI-03614
name: Deafness, autosomal recessive, 70, with or without adult-onset neurodegeneration
def: "A form of non-syndromic deafness characterized by severe, bilateral hearing impairment with prelingual onset, resulting in inability to acquire normal speech. Affected individuals may develop a neurodegenerative disease in adulthood, including ataxia with loss of ambulation, optic atrophy, dystonia or spasticity, and cognitive decline with psychiatric features." []
xref: MedGen:CN160615
xref: MeSH:D003638
xref: MIM:614934 "phenotype"
[Term]
id: DI-03615
name: Perrault syndrome 2
def: "A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile." []
xref: MedGen:C3554105
xref: MedGen:CN160612
xref: MeSH:D006319
xref: MeSH:D023961
xref: MIM:614926 "phenotype"
[Term]
id: DI-03616
name: Myoclonus, familial, 1
def: "An autosomal dominant neurologic condition characterized by adult onset of cortical myoclonus manifest as involuntary jerks or movements affecting the face and limbs. Affected individuals can also experience falls without seizure activity or loss of consciousness." []
synonym: "FCM" [UniProt]
synonym: "Myoclonus, familial cortical" [UniProt]
xref: MedGen:C3539916
xref: MedGen:CN160752
xref: MeSH:D009207
xref: MIM:614937 "phenotype"
[Term]
id: DI-03617
name: Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant
def: "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands." []
synonym: "Ectodermal dysplasia hypohidrotic autosomal dominant" [UniProt]
synonym: "HED" [UniProt]
xref: MedGen:C3541517
xref: MedGen:CN160753
xref: MeSH:D053359
xref: MIM:614940 "phenotype"
[Term]
id: DI-03618
name: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
def: "A disorder due to abnormal development of two or more ectodermal structures, and characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands." []
synonym: "Ectodermal dysplasia anhidrotic" [UniProt]
synonym: "Ectodermal dysplasia hypohidrotic autosomal recessive" [UniProt]
synonym: "EDA" [UniProt]
synonym: "HED" [UniProt]
xref: MedGen:C3539920
xref: MedGen:CN160754
xref: MeSH:D004476
xref: MeSH:D053360
xref: MIM:614941 "phenotype"
[Term]
id: DI-03619
name: Tooth agenesis, selective, 4
def: "A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). In STHAG4, the upper lateral incisors are absent or peg- shaped. Some STHAG4 patients manifest mild features of ectodermal dysplasia, including sparse hair, sparse eyebrows, short eyelashes, abnormalities of the nails, sweating anomalies and dry skin. STHAG4 inheritance is autosomal dominant or autosomal recessive." []
synonym: "Absence of lateral incisors" [UniProt]
synonym: "Agenesis of succedaneous teeth" [UniProt]
synonym: "Pegged or missing lateral incisors" [UniProt]
synonym: "Selective tooth agenesis 4" [UniProt]
synonym: "Tooth agenesis, selective, 4, with or without ectodermal dysplasia" [UniProt]
xref: MedGen:C1835492
xref: MedGen:C1835493
xref: MeSH:D000848
xref: MIM:150400 "phenotype"
[Term]
id: DI-03620
name: Ectodermal dysplasia 9, hair/nail type
def: "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD9 is characterized by hypotrichosis and nail dystrophy without non-ectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia)." []
xref: MedGen:C3554127
xref: MedGen:CN160610
xref: MeSH:D004476
xref: MIM:614931 "phenotype"
[Term]
id: DI-03621
name: Deafness, autosomal recessive, 18B
def: "A form of non-syndromic deafness characterized by a moderate hearing impairment, which can be associated with vestibular dysfunction, and a flat to shallow 'U' or slightly downsloping shaped audiograms." []
xref: MedGen:C3554163
xref: MeSH:D034381
xref: MIM:614945 "phenotype"
[Term]
id: DI-03622
name: Vitreoretinopathy, neovascular inflammatory
def: "An autoimmune condition of the eye that sequentially mimics uveitis, retinitis pigmentosa, and proliferative diabetic retinopathy as it progresses to complete blindness. Patients present during the second or third decade of life with posterior uveitis and reduction of the electroretinogram b-wave. They become more symptomatic when cataracts, cystoid macular edema, and disk edema diminish visual acuity during the second stage. Severe vision loss begins during the third stage when proliferative retinal neovascularization and epiretinal membranes appear. There is an ongoing pigmentary retinal degeneration and peripheral visual field loss during all stages. In the fourth stage, proliferative vitreoretinopathy causes tractional retinal detachments at the macula and vitreous base. The fifth or end-stage disease is marked by phthisis." []
synonym: "ADNIV" [UniProt]
synonym: "Neovascular inflammatory vitreoretinopathy autosomal dominant" [UniProt]
synonym: "Proliferative vitreoretinopathy" [UniProt]
synonym: "PVR" [UniProt]
xref: MedGen:C1860404
xref: MeSH:D018630
xref: MIM:193235 "phenotype"
[Term]
id: DI-03623
name: Liebenberg syndrome
def: "An upper limb-malformation syndrome characterized by the combination of dysplastic elbow joints and the fusion of wrist bones with consequent radial deviation." []
synonym: "Brachydactyly with joint dysplasia" [UniProt]
synonym: "Carpal synostosis with dysplastic elbow joints and brachydactyly" [UniProt]
xref: MedGen:C1861313
xref: MeSH:D006228
xref: MeSH:D013580
xref: MeSH:D059327
xref: MIM:186550 "phenotype"
[Term]
id: DI-03624
name: Megalencephaly-capillary malformation-polymicrogyria syndrome
def: "A syndrome characterized by a spectrum of anomalies including primary megalencephaly, prenatal overgrowth, brain and body asymmetry, cutaneous vascular malformations, digital anomalies consisting of syndactyly with or without postaxial polydactyly, connective tissue dysplasia involving the skin, subcutaneous tissue, and joints, and cortical brain malformations, most distinctively polymicrogyria." []
synonym: "Macrocephaly-capillary malformation" [UniProt]
synonym: "Macrocephaly-cutis marmorata telangiectatica congenita" [UniProt]
synonym: "MCM" [UniProt]
synonym: "MCMTC" [UniProt]
synonym: "Megalencephaly-capillary malformation syndrome" [UniProt]
synonym: "Megalencephaly-cutis marmorata telangiectatica congenita" [UniProt]
xref: MedGen:C1865285
xref: MeSH:D013684
xref: MeSH:D017445
xref: MeSH:D058627
xref: MIM:602501 "phenotype"
[Term]
id: DI-03625
name: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
def: "A syndrome characterized by megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly- capillary malformation syndrome." []
synonym: "MEG-PMG-MEGACC syndrome" [UniProt]
synonym: "Megalencephaly mega corpus callosum and complete lack of motor development" [UniProt]
synonym: "Megalencephaly-polymicrogyria-mega corpus callosum syndrome" [UniProt]
synonym: "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome" [UniProt]
synonym: "MPPH" [UniProt]
xref: MedGen:C1863924
xref: MeSH:D006849
xref: MeSH:D017689
xref: MeSH:D054220
xref: MeSH:D058627
xref: MIM:603387 "phenotype"
[Term]
id: DI-03626
name: Schizophrenia
def: "A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder." []
synonym: "Schizophrenia with or without an affective disorder" [UniProt]
xref: MedGen:C0036337
xref: MedGen:C0036341
xref: MeSH:D012559
xref: MIM:181500 "phenotype"
[Term]
id: DI-03627
name: Intellectual developmental disorder, X-linked, syndromic 32
def: "A syndrome characterized by profound intellectual deficit, delayed psychomotor development beginning in infancy and little or no speech development. Additional features include seizures, large joint contractures, and abnormal positioning of the thumbs." []
xref: MedGen:C3550913
xref: MedGen:CN162963
xref: MeSH:D038901
xref: MIM:300886 "phenotype"
[Term]
id: DI-03628
name: Linear skin defects with multiple congenital anomalies 2
def: "A distinct form of aplasia cutis congenita presenting as multiple linear skin defects on the face and neck associated with poor growth, microcephaly, and facial dysmorphism. Additional features include intellectual disability, nail dystrophy, short stature and cardiac abnormalities." []
synonym: "Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies" [UniProt]
synonym: "APLCC" [UniProt]
xref: MedGen:C3550921
xref: MedGen:CN163066
xref: MeSH:D000015
xref: MIM:300887 "phenotype"
[Term]
id: DI-03629
name: Hypothyroidism, central, and testicular enlargement
def: "A disorder characterized by insufficient thyroid gland stimulation by thyroid stimulating hormone (TSH), resulting from hypothalamic and/or pituitary dysfunction. CHTE patients have delayed testosterone increase at puberty with normal testosterone levels in adulthood, normal testicular volume in childhood and enlarged testicles in adulthood." []
xref: MedGen:C3550963
xref: MedGen:CN163076
xref: MeSH:D003409
xref: MIM:300888 "phenotype"
[Term]
id: DI-03630
name: Combined oxidative phosphorylation deficiency 14
def: "A severe multisystemic autosomal recessive disorder characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes." []
xref: MedGen:C3554168
xref: MedGen:CN162964
xref: MeSH:D028361
xref: MIM:614946 "phenotype"
[Term]
id: DI-03631
name: Combined oxidative phosphorylation deficiency 15
def: "An autosomal recessive, mitochondrial, neurologic disorder characterized by features of Leigh syndrome and combined oxidative phosphorylation deficiency. Clinical features include mild global developmental delay, white matter abnormalities, ataxia, incoordination, speech and reading difficulties, T2-weighted hyperintensities in the basal ganglia, corpus callosum, and brainstem." []
xref: MedGen:C3554182
xref: MedGen:CN162965
xref: MeSH:D028361
xref: MIM:614947 "phenotype"
[Term]
id: DI-03632
name: Developmental and epileptic encephalopathy 14
def: "A rare epileptic encephalopathy of infancy that combines pharmacoresistant seizures with developmental delay. This severe neurologic disorder is characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another." []
synonym: "EIEE14" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 14" [UniProt]
synonym: "Malignant migrating partial seizures of infancy" [UniProt]
synonym: "MMPSI" [UniProt]
xref: MedGen:C3554195
xref: MedGen:CN162969
xref: MeSH:D013036
xref: MIM:614959 "phenotype"
[Term]
id: DI-03633
name: Pontocerebellar hypoplasia 8
def: "An autosomal recessive neurodevelopmental disorder characterized by severe psychomotor retardation, abnormal movements, hypotonia, spasticity, and variable visual defects. Brain MRI shows pontocerebellar hypoplasia, decreased cerebral white matter, and a thin corpus callosum." []
xref: MedGen:C3554209
xref: MedGen:CN162972
xref: MeSH:D002526
xref: MIM:614961 "phenotype"
[Term]
id: DI-03634
name: Cholestasis of pregnancy, intrahepatic 3
def: "A liver disorder of pregnancy. It presents during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more severe with advancing gestation and cholestasis. It causes fetal distress, spontaneous premature delivery and intrauterine death. Patients have spontaneous and progressive disappearance of cholestasis after delivery. Cholestasis results from abnormal biliary transport from the liver into the small intestine." []
xref: MedGen:C3554241
xref: MedGen:CN162977
xref: MeSH:D002780
xref: MIM:614972 "phenotype"
[Term]
id: DI-03635
name: Carpenter syndrome 2
def: "An autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease." []
xref: MedGen:C3554247
xref: MedGen:CN163067
xref: MeSH:D000168
xref: MIM:614976 "phenotype"
[Term]
id: DI-03636
name: Focal facial dermal dysplasia 4
def: "A form of focal facial dermal dysplasia, a group of developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. Skin defects occur at the sites of facial fusion during embryogenesis, with temporal lesions situated at the junction between the frontonasal and maxillary facial prominences, and preauricular lesions at the meeting point of the maxillary and mandibular prominences. The ectodermal lesions show consistent histologic abnormalities: atrophy and flattening of the epidermis, replacement of the dermis by loose connective tissue, reduced levels of fragmented elastic tissue and absence of the subcutaneous tissues and adnexal structures. FFDD4 is characterized by isolated, preauricular skin lesions." []
synonym: "FFDD type IV" [UniProt]
synonym: "Focal facial dermal dysplasia type IV" [UniProt]
xref: MedGen:C3554246
xref: MedGen:CN162978
xref: MeSH:D004476
xref: MIM:614974 "phenotype"
[Term]
id: DI-03637
name: Leptin deficiency
def: "A rare disease characterized by low levels of serum leptin, severe hyperphagia and intractable obesity from an early age." []
synonym: "Leptin deficiency or dysfunction" [UniProt]
synonym: "Morbid obesity" [UniProt]
synonym: "Morbid obesity due to leptin deficiency" [UniProt]
synonym: "Obesity due to congenital leptin deficiency" [UniProt]
xref: MedGen:C3554224
xref: MedGen:CN069970
xref: MeSH:D009767
xref: MIM:614962 "phenotype"
[Term]
id: DI-03638
name: Leptin receptor deficiency
def: "A rare disease characterized by normal levels of serum leptin, hyperphagia and severe obesity from an early age. Additional features include alterations in immune function, and delayed puberty due to hypogonadotropic hypogonadism." []
synonym: "Morbid obesity" [UniProt]
synonym: "Morbid obesity due to leptin receptor deficiency" [UniProt]
xref: MedGen:C3554225
xref: MedGen:CN120495
xref: MeSH:D009767
xref: MIM:614963 "phenotype"
[Term]
id: DI-03639
name: Hydrocephalus, congenital, 1
def: "A form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. Affected individuals may have neurologic impairment. HYC1 inheritance is autosomal recessive." []
synonym: "Hydrocephalus, non-syndromic, autosomal recessive 1" [UniProt]
synonym: "Hydrocephaly" [UniProt]
synonym: "Ventriculomegaly" [UniProt]
xref: MedGen:C0020255
xref: MeSH:D006849
xref: MIM:236600 "phenotype"
[Term]
id: DI-03640
name: Spinocerebellar ataxia, X-linked 1
def: "Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAX1 is characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar ataxia." []
synonym: "Olivopontocerebellar atrophy X-linked" [UniProt]
synonym: "OPCA X-linked" [UniProt]
synonym: "OPCAX" [UniProt]
xref: MedGen:C0796205
xref: MeSH:D009849
xref: MIM:302500 "phenotype"
[Term]
id: DI-03641
name: Zinc deficiency, transient neonatal
def: "A disorder occurring in breast-fed infants as a consequence of low milk zinc concentration in their nursing mothers, which cannot be corrected by maternal zinc supplementation. A large amount of zinc, an essential trace mineral, is required for normal growth particularly in infants, and breast milk normally contains adequate zinc to meet the requirement for infants up to 4 to 6 months of age. Zinc deficiency can lead to dermatitis, alopecia, decreased growth, and impaired immune function. The disorder shows autosomal dominant inheritance with incomplete penetrance." []
synonym: "Neonatal zinc deficiency due to low breast milk zinc" [UniProt]
xref: MedGen:C1842485
xref: MedGen:C1842486
xref: MeSH:D008664
xref: MIM:608118 "phenotype"
[Term]
id: DI-03642
name: MEDNIK syndrome
def: "A disorder characterized by erythematous skin lesions and hyperkeratosis, severe psychomotor retardation, peripheral neuropathy, sensorineural hearing loss, together with elevated very-long-chain fatty acids and severe congenital diarrhea." []
synonym: "EKV3" [UniProt]
synonym: "Erythrokeratodermia variabilis 3" [UniProt]
synonym: "Erythrokeratodermia variabilis Kamouraska type" [UniProt]
synonym: "Impaired intellectual development, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma" [UniProt]
xref: MedGen:C1836330
xref: MeSH:D007057
xref: MeSH:D008607
xref: MeSH:D020752
xref: MeSH:D056266
xref: MIM:609313 "phenotype"
[Term]
id: DI-03643
name: Ciliary dyskinesia, primary, 20
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. Unlike other forms of CILD characterized by reduced fertility, patients with CILD20 do not appear to be infertile." []
synonym: "ICS20" [UniProt]
synonym: "Immotile cilia syndrome 20" [UniProt]
synonym: "Primary ciliary dyskinesia 20 with or without situs inversus" [UniProt]
xref: MedGen:C3540844
xref: MedGen:CN165472
xref: MeSH:D007619
xref: MIM:615067 "phenotype"
[Term]
id: DI-03644
name: Hypotrichosis 11
def: "A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT11 is an autosomal dominant form characterized by scanty or absent eyebrows and a highly variable degree of alopecia since birth, ranging from slight thinning of scalp and axillary hair to complete loss of scalp and body hair. Pubic hair remains mainly unaffected." []
xref: MedGen:C3554409
xref: MedGen:CN165240
xref: MeSH:D007039
xref: MIM:615059 "phenotype"
[Term]
id: DI-03645
name: Mitochondrial DNA depletion syndrome 11
def: "An autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive external ophthalmoplegia, muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness. More variable features include spinal deformity, emaciation, and cardiac abnormalities. Skeletal muscle biopsies show deletion and depletion of mitochondrial DNA (mtDNA) with variable defects in respiratory chain enzyme activities." []
xref: MedGen:C3554462
xref: MedGen:CN165700
xref: MeSH:D017240
xref: MIM:615084 "phenotype"
[Term]
id: DI-03646
name: Vici syndrome
def: "A rare congenital multisystem disorder characterized by agenesis of the corpus callosum, cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy." []
synonym: "Immunodeficiency with cleft lip/palate cataract hypopigmentation and absent corpus callosum" [UniProt]
xref: MedGen:C1855772
xref: MeSH:D002386
xref: MeSH:D007153
xref: MeSH:D061085
xref: MIM:242840 "phenotype"
[Term]
id: DI-03647
name: Microcephaly 10, primary, autosomal recessive
def: "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH10 is characterized by extremely small head size and death usually by 1 year of age. Neuropathologic examination shows severe loss of neurons as well as neuronal loss of polarity and abnormal dendritic maturation." []
xref: MedGen:C3554499
xref: MedGen:CN165798
xref: MeSH:D008831
xref: MIM:615095 "phenotype"
[Term]
id: DI-03648
name: Colorectal cancer 12
def: "A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. CRCS12 is characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset is usually before age 40 years. The histologic features of the tumors are unremarkable." []
synonym: "Susceptibility to colorectal cancer on chromosome 12q24" [UniProt]
xref: MedGen:C3554460
xref: MedGen:CN165699
xref: MeSH:D015179
xref: MIM:615083 "phenotype"
[Term]
id: DI-03649
name: Autism 19
def: "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability." []
xref: MedGen:C3554495
xref: MedGen:CN165707
xref: MeSH:D001321
xref: MIM:615091 "phenotype"
[Term]
id: DI-03650
name: Gand syndrome
def: "An autosomal dominant syndrome characterized by global developmental delay with motor delay, moderate to severely impaired intellectual development, and poor speech acquisition in most patients. Additional features include hypotonia, feeding difficulties in infancy, and dysmorphic features. More variable features may include seizures, cardiac abnormalities, and non-specific findings on brain imaging." []
synonym: "MRD18" [UniProt]
xref: MedGen:C3554448
xref: MedGen:CN165602
xref: MeSH:D008607
xref: MIM:615074 "phenotype"
[Term]
id: DI-03651
name: Dystonia 25
def: "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT25 is an autosomal dominant neurologic disorder characterized by adult onset of focal dystonia, usually involving the neck. The dystonia most often progresses to involve other regions, particularly the face and laryngeal muscles, and less commonly the trunk and limbs." []
synonym: "Dystonia-25" [UniProt]
xref: MedGen:C3554447
xref: MedGen:CN165617
xref: MeSH:D004421
xref: MIM:615073 "phenotype"
[Term]
id: DI-03652
name: Neurodevelopmental disorder with spastic diplegia and visual defects
def: "An autosomal dominant disorder characterized by global developmental delay, severe intellectual disability with absent or very limited speech, microcephaly, spasticity, and visual abnormalities." []
synonym: "MRD19" [UniProt]
xref: MedGen:C3554449
xref: MedGen:CN165603
xref: MeSH:D008607
xref: MIM:615075 "phenotype"
[Term]
id: DI-03653
name: Alazami syndrome
def: "A syndromic form of primordial dwarfism, a condition characterized by severe growth restriction that has its onset in utero, and results in short stature and undersize. ALAZS patients manifest severe intellectual disability and distinct facial features including malar hypoplasia, deep-set eyes, broad nose, short philtrum, and macrostomia. Some patients have non-specific and inconsistent skeletal findings, for example, scoliosis and mild epiphyseal changes in the proximal phalanges, but no frank dysplasia." []
synonym: "Facial dysmorphism intellectual disability and primordial dwarfism" [UniProt]
xref: MedGen:C3554439
xref: MedGen:CN165475
xref: MeSH:D004392
xref: MeSH:D008607
xref: MIM:615071 "phenotype"
[Term]
id: DI-03654
name: Brachydactyly A1, C
def: "A form of brachydactyly type A1. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. BDA1C inheritance can be autosomal dominant or autosomal recessive. Autosomal dominant BDA1C has a milder phenotype." []
synonym: "Brachydactyly A1C" [UniProt]
synonym: "Brachydactyly type A1 C" [UniProt]
xref: MedGen:C3554446
xref: MedGen:CN165597
xref: MeSH:D059327
xref: MIM:615072 "phenotype"
[Term]
id: DI-03655
name: Spermatogenic failure 11
def: "An infertility disorder caused by spermatogenesis defects. It results in decreased sperm motility, concentration, and multiple sperm structural defects. Oligozoospermia is usually observed in SPGF11 patients. In addition to oligozoospermia, teratozoospermia and moderate asthenozoospermia is observed in some cases." []
xref: MedGen:C3554453
xref: MedGen:CN165619
xref: MeSH:D007248
xref: MIM:615081 "phenotype"
[Term]
id: DI-03656
name: Osteopetrosis, autosomal recessive 8
def: "A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB8 is clinically characterized by dense bones with no distinction between outer and inner plates, due to extensive encroachment of cortical bone into the medullary space, increased head circumference, broad open fontanelle, frontal bossing, and hepatosplenomegaly. Osteoclasts number is low and their bone resorptive capacity is impaired." []
xref: MedGen:C3554478
xref: MedGen:CN165701
xref: MeSH:D010022
xref: MIM:615085 "phenotype"
[Term]
id: DI-03657
name: Omphalocele, autosomal
def: "An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane- covered internal organs into the open base of the umbilical cord. It appears as a skin-covered protrusion at the umbilicus during crying, coughing, or straining." []
synonym: "Chromosome 1p31 duplication syndrome" [UniProt]
synonym: "Omphalocele due to duplication of 1p31.3" [UniProt]
xref: MedGen:C3277235
xref: MeSH:D006554
xref: MIM:164750 "phenotype"
[Term]
id: DI-03659
name: Left ventricular non-compaction 7
def: "A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC7 is an autosomal dominant condition." []
synonym: "Left ventricular noncompaction 7" [UniProt]
xref: MedGen:C3554496
xref: MeSH:D056830
xref: MIM:615092 "phenotype"
[Term]
id: DI-03660
name: Spinocerebellar ataxia 29
def: "An autosomal dominant, congenital spinocerebellar ataxia characterized by early motor delay, hypotonia and mild cognitive delay. Affected individuals develop a very slowly progressive or non-progressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor." []
synonym: "ACV" [UniProt]
synonym: "Aplasia of cerebellar vermis" [UniProt]
synonym: "Autosomal dominant congenital nonprogressive cerebellar ataxia" [UniProt]
synonym: "Cerebellar vermis aplasia" [UniProt]
synonym: "CNPCA" [UniProt]
xref: MedGen:C1861732
xref: MeSH:D020754
xref: MIM:117360 "phenotype"
[Term]
id: DI-03661
name: Colorectal cancer 10
def: "A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history." []
synonym: "Susceptibility to colorectal cancer on chromosome 19q" [UniProt]
xref: MedGen:C2675481
xref: MeSH:D015179
xref: MIM:612591 "phenotype"
[Term]
id: DI-03662
name: Hypocalciuric hypercalcemia, familial 3
def: "A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults." []
synonym: "Familial benign hypercalcemia 3" [UniProt]
synonym: "Familial benign hypercalcemia Oklahoma type" [UniProt]
synonym: "Familial benign hypocalciuric hypercalcemia 3" [UniProt]
synonym: "FBH3" [UniProt]
synonym: "FBHH3" [UniProt]
synonym: "FHH3" [UniProt]
synonym: "Hypocalciuric hypercalcemia type III" [UniProt]
xref: MedGen:C1833372
xref: MeSH:D006934
xref: MIM:600740 "phenotype"
[Term]
id: DI-03663
name: Epilepsy, nocturnal frontal lobe, 5
def: "An autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of nocturnal frontal lobe epilepsy." []
xref: MedGen:C3554306
xref: MedGen:CN164258
xref: MeSH:D017034
xref: MIM:615005 "phenotype"
[Term]
id: DI-03664
name: Developmental and epileptic encephalopathy 15
def: "A form of epilepsy that manifests in the neonatal or the early infantile period as severely impaired cognitive and motor development, due to recurrent clinical seizures or prominent interictal epileptiform discharges. Patients develop infantile spasms, mainly of the flexor type, between 3 and 7 months of age, which are accompanied by hypsarrhythmia on EEG. Other features include poor eye contact, hypotonia, primitive reflexes, and irritability. Seizures evolve clinically to Lennox-Gastaut syndrome." []
synonym: "EIEE15" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 15" [UniProt]
xref: MedGen:C3554316
xref: MedGen:CN164259
xref: MeSH:D013036
xref: MIM:615006 "phenotype"
[Term]
id: DI-03665
name: Basal ganglia calcification, idiopathic, 4
def: "A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas." []
xref: MedGen:C3554321
xref: MedGen:CN164260
xref: MeSH:D001480
xref: MeSH:D002114
xref: MIM:615007 "phenotype"
[Term]
id: DI-03666
name: Nephrotic syndrome 7
def: "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. NPHS7 is an autosomal recessive form characterized by onset of proteinuria usually in the first decade of life. The disorder is progressive, and some patients develop end-stage renal disease within several years. Renal biopsy typically shows membranoproliferative glomerulonephritis." []
synonym: "Nephrotic syndrome type 7 with membranoproliferative glomerulonephritis" [UniProt]
xref: MedGen:C3554330
xref: MedGen:CN164256
xref: MeSH:D009404
xref: MIM:615008 "phenotype"
[Term]
id: DI-03667
name: Schuurs-Hoeijmakers syndrome
def: "An autosomal dominant intellectual developmental disorder characterized by intellectual disability in combination with distinct craniofacial features and genital abnormalities." []
synonym: "Intellectual developmental disorder, autosomal dominant 17" [UniProt]
synonym: "MRD17" [UniProt]
xref: MedGen:C3554343
xref: MedGen:CN164257
xref: MeSH:D008607
xref: MIM:615009 "phenotype"
[Term]
id: DI-03668
name: Aicardi-Goutieres syndrome 6
def: "A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood." []
synonym: "Cree encephalitis" [UniProt]
synonym: "Pseudo-TORCH syndrome" [UniProt]
xref: MedGen:C3539013
xref: MedGen:CN164367
xref: MeSH:D009421
xref: MeSH:D020274
xref: MIM:615010 "phenotype"
[Term]
id: DI-03669
name: Phosphohydroxylysinuria
def: "A condition characterized by elevated phosphohydroxylysine in the urine. There is no clinical phenotype associated with this finding other than the urinary metabolites." []
xref: MedGen:C3554344
xref: MedGen:CN164368
xref: MeSH:D008661
xref: MIM:615011 "phenotype"
[Term]
id: DI-03670
name: Ichthyosis, congenital, autosomal recessive 3
def: "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs." []
synonym: "Lamellar ichthyosis 5" [UniProt]
synonym: "LI5" [UniProt]
synonym: "Self-healing collodion baby" [UniProt]
xref: MedGen:C1847849
xref: MedGen:C3539888
xref: MeSH:D017490
xref: MIM:606545 "phenotype"
[Term]
id: DI-03671
name: Ichthyosis, congenital, autosomal recessive 10
def: "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs." []
xref: MedGen:C3554355
xref: MedGen:CN164582
xref: MeSH:D017490
xref: MIM:615024 "phenotype"
[Term]
id: DI-03672
name: Charcot-Marie-Tooth disease, axonal, 2Q
def: "An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy." []
synonym: "Charcot-Marie-Tooth disease axonal autosomal dominant type 2Q" [UniProt]
synonym: "Charcot-Marie-Tooth disease axonal type 2Q" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy axonal type 2Q" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy, type 2Q" [UniProt]
xref: MedGen:C3554366
xref: MedGen:CN164583
xref: MeSH:D002607
xref: MIM:615025 "phenotype"
[Term]
id: DI-03673
name: Alpha-aminoadipic and alpha-ketoadipic aciduria
def: "An autosomal recessive metabolic disorder characterized by increased levels of 2-oxoadipate and 2-hydroxyadipate in the urine, and elevated 2-aminoadipate in the plasma. Patients can have mild to severe intellectual disability, muscular hypotonia, developmental delay, ataxia, and epilepsy. Most cases are asymptomatic." []
synonym: "2-aminoadipic 2-oxoadipic aciduria" [UniProt]
synonym: "2-ketoadipic aciduria" [UniProt]
synonym: "AMOXAD" [UniProt]
xref: MedGen:C1859817
xref: MeSH:D000592
xref: MIM:204750 "phenotype"
[Term]
id: DI-03674
name: Riboflavin deficiency
def: "A disorder caused by a primary defect in riboflavin metabolism, or by dietary riboflavin deficiency. Riboflavin deficiency during pregnancy results in hypoglycemia, metabolic acidosis, dicarboxylic aciduria and elevated plasma acylcarnitine levels in the newborn. Treatment with oral riboflavin results in complete resolution of the clinical and biochemical findings." []
synonym: "Riboflavin transporter deficiency, type 1" [UniProt]
synonym: "RTD1" [UniProt]
xref: MedGen:C0035528
xref: MeSH:D012257
xref: MIM:615026 "phenotype"
[Term]
id: DI-03675
name: Intellectual developmental disorder with autism and macrocephaly
def: "An autosomal dominant disorder characterized by impaired intellectual development, a highly penetrant autism spectrum phenotype, and macrocephaly. Other common features include tall stature, gastrointestinal symptoms, distinct facial features, sleep problems, and attention problems." []
synonym: "Autism 18" [UniProt]
synonym: "AUTS18" [UniProt]
xref: MedGen:C3554373
xref: MedGen:CN164590
xref: MeSH:D001321
xref: MIM:615032 "phenotype"
[Term]
id: DI-03676
name: Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
def: "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. EBS4 is an autosomal recessive disorder characterized by mild skin fragility with onset at birth or in early childhood, associated with acral blistering with hemorrhagic crusts. Skin fragility improves with age in most patients, although mottled pigmentation may later develop on the trunk and proximal limbs." []
xref: MedGen:C3554367
xref: MedGen:CN164584
xref: MeSH:D004820
xref: MIM:615028 "phenotype"
[Term]
id: DI-03677
name: Spastic paraplegia 54, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. SPG54 patients have delayed psychomotor development, intellectual disability, and early- onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions, and an abnormal lipid peak due to accumulation of neutral lipids in certain brain regions." []
xref: MedGen:C3539495
xref: MeSH:D015419
xref: MIM:615033 "phenotype"
[Term]
id: DI-03678
name: Spastic paraplegia 28, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG28 patients also have distal sensory impairment." []
xref: MedGen:C1836295
xref: MeSH:D015419
xref: MIM:609340 "phenotype"
[Term]
id: DI-03679
name: Spastic paraplegia 55, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations." []
xref: MedGen:C3539506
xref: MedGen:CN164593
xref: MeSH:D015419
xref: MIM:615035 "phenotype"
[Term]
id: DI-03680
name: Spastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticum
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. In SPG56, upper limbs are often also affected. Some SPG56 patients may have a subclinical axonal neuropathy; others also have pseudoxanthoma elasticum." []
xref: MedGen:C3539507
xref: MedGen:CN164728
xref: MeSH:D015419
xref: MIM:615030 "phenotype"
[Term]
id: DI-03681
name: Neuropathy, hereditary sensory and autonomic, 9, with developmental delay
def: "A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN9 is characterized by global developmental delay and intellectual disability, axial and appendicular hypotonia, dysarthria, and an abnormal gait that is often described as ataxic. Other features may include peripheral neuropathy, hyporeflexia, and autonomic dysfunction. Affected individuals also have dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, which may be fatal." []
synonym: "Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay" [UniProt]
synonym: "Spastic paraplegia 49, autosomal recessive" [UniProt]
synonym: "SPG49" [UniProt]
xref: MedGen:C3542549
xref: MedGen:CN164591
xref: MeSH:D015419
xref: MIM:615031 "phenotype"
[Term]
id: DI-03682
name: Dystonia 24
def: "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT24 is an autosomal dominant focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs." []
synonym: "Dystonia-24" [UniProt]
xref: MedGen:C3554374
xref: MedGen:CN164729
xref: MeSH:D004421
xref: MIM:615034 "phenotype"
[Term]
id: DI-03683
name: Episodic pain syndrome, familial, 1
def: "An autosomal dominant neurologic disorder characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress. The period of intense pain is accompanied by breathing difficulties, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall. Affected individuals do not manifest altered pain sensitivity outside the episodes." []
xref: MedGen:C3554380
xref: MedGen:C3808667
xref: MedGen:CN164737
xref: MeSH:D010146
xref: MIM:615040 "phenotype"
[Term]
id: DI-03684
name: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10
def: "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease." []
synonym: "Muscle-eye-brain disease TMEM5-related" [UniProt]
synonym: "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10" [UniProt]
synonym: "Walker-Warburg syndrome TMEM5-related" [UniProt]
xref: MedGen:C3554381
xref: MedGen:CN164735
xref: MeSH:D058494
xref: MIM:615041 "phenotype"
[Term]
id: DI-03685
name: Congenital disorder of glycosylation 1U
def: "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Some CDG1U patients have dystrophic changes seen on muscle biopsy and reduced O-mannosyl glycans on alpha- dystroglycan." []
synonym: "CDG Iu" [UniProt]
synonym: "CDG-Iu" [UniProt]
synonym: "CDGIu" [UniProt]
synonym: "Congenital disorder of glycosylation type Iu" [UniProt]
xref: MedGen:C3554385
xref: MedGen:CN164727
xref: MeSH:D018981
xref: MIM:615042 "phenotype"
[Term]
id: DI-03686
name: Osteogenesis imperfecta 14
def: "An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI14 is characterized by variable degrees of severity of multiple fractures and osteopenia, with normal teeth, sclerae, and hearing. Fractures first occur prenatally or by age 6 years." []
synonym: "OI type XIV" [UniProt]
synonym: "OI-XIV" [UniProt]
synonym: "Osteogenesis imperfecta type XIV" [UniProt]
xref: MedGen:C3554428
xref: MedGen:CN165469
xref: MeSH:D010013
xref: MIM:615066 "phenotype"
[Term]
id: DI-03687
name: Night blindness, congenital stationary, 1F
def: "An autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia." []
synonym: "Complete autosomal recessive CSNB" [UniProt]
synonym: "Complete congenital stationary night blindness 1F autosomal recessive" [UniProt]
xref: MedGen:C3554399
xref: MedGen:CN165239
xref: MeSH:D009755
xref: MIM:615058 "phenotype"
[Term]
id: DI-03688
name: Arthrogryposis, distal, 5D
def: "An autosomal recessive form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA5D is characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, clubfoot and/or a calcaneovalgus deformity, extension contractures of the knee, unilateral ptosis or ptosis that is more severe on one side, a round- shaped face, arched eyebrows, a bulbous upturned nose, and micrognathia. Patients do not have ophthalmoplegia." []
xref: MedGen:C3554415
xref: MedGen:CN165245
xref: MeSH:D001176
xref: MIM:615065 "phenotype"
[Term]
id: DI-03689
name: Neuronopathy, distal hereditary motor, autosomal dominant 7
def: "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMND7 is characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with vocal cord paresis due to involvement of the tenth cranial nerve." []
synonym: "dHMN7A" [UniProt]
synonym: "DHMNVP" [UniProt]
synonym: "Distal hereditary motor neuronopathy type VIIA" [UniProt]
synonym: "Distal hereditary motor neuropathy type VIIA" [UniProt]
synonym: "Distal hereditary motor neuropathy with vocal cord paralysis" [UniProt]
synonym: "Distal spinal muscular atrophy with vocal cord paralysis" [UniProt]
synonym: "Harper-Young myopathy" [UniProt]
synonym: "HMN VIIA" [UniProt]
synonym: "HMN7A" [UniProt]
synonym: "Neuronopathy, distal hereditary motor, 7A" [UniProt]
xref: MedGen:C1834703
xref: MeSH:D009134
xref: MIM:158580 "phenotype"
[Term]
id: DI-03690
name: Ectopia lentis et pupillae
def: "An ocular abnormality characterized by displacement of the lenses and the pupils, associated with other ocular anomalies, but without systemic manifestations. The condition is usually bilateral, with the lenses and pupils displaced in opposite directions. Additional signs include enlarged corneal diameter, increased corneal astigmatism, increased anterior chamber depth, thinning and flattening of the iris with loss of crypts, angle malformation caused by enlarged iris processes, persistent pupillary membrane, loss of zonular fibers, tilted disk, and increased axial length. Secondary manifestations include refractive errors, glaucoma, early cataract development, and retinal detachment. Membrane formation on the posterior aspect of the iris has been observed both in histologic sections and on ultrasound biomicroscopy." []
xref: MedGen:C1644196
xref: MeSH:D004479
xref: MeSH:D011681
xref: MIM:225200 "phenotype"
[Term]
id: DI-03691
name: Opsismodysplasia
def: "A rare skeletal dysplasia involving delayed bone maturation. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel, and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Death secondary to respiratory failure during the first few years of life has been reported, but there can be long-term survival. Typical radiographic findings include shortened long bones with very delayed epiphyseal ossification, severe platyspondyly, metaphyseal cupping, and characteristic abnormalities of the metacarpals and phalanges." []
xref: MedGen:C0432219
xref: MeSH:D010009
xref: MIM:258480 "phenotype"
[Term]
id: DI-03692
name: Asplenia, isolated congenital
def: "A rare primary immunodeficiency and life-threatening condition, often presenting with pneumococcal sepsis. Most affected individuals die of severe bacterial infections in early childhood. Isolated asplenia is distinct from asplenia associated with other complex visceral defects, notably heterotaxy syndromes such as Ivemark syndrome." []
synonym: "Congenital isolated hyposplenia" [UniProt]
synonym: "Familial asplenia" [UniProt]
synonym: "Splenic hypoplasia" [UniProt]
xref: MedGen:C0685889
xref: MedGen:C1849084
xref: MeSH:D007153
xref: MIM:271400 "phenotype"
[Term]
id: DI-03693
name: Charcot-Marie-Tooth disease, X-linked recessive, 4, with or without cerebellar ataxia
def: "A neuromuscular disorder characterized by progressive sensorimotor axonal neuropathy, distal sensory impairment, difficulty walking due to peripheral neuropathy and/or cerebellar ataxia, and deafness due to auditory neuropathy. Additional features include cognitive impairment, cerebellar atrophy, dysarthria, abnormal extraocular movements, tremor, dysmetria and spasticity. The age at onset ranges from infancy to young adulthood." []
synonym: "Charcot-Marie-Tooth disease X-linked recessive 4" [UniProt]
synonym: "Cowchock syndrome" [UniProt]
synonym: "COWCK" [UniProt]
synonym: "NADMR" [UniProt]
synonym: "NAMSD" [UniProt]
xref: MedGen:C0795910
xref: MeSH:D002607
xref: MeSH:D006319
xref: MeSH:D008607
xref: MIM:310490 "phenotype"
[Term]
id: DI-03695
name: Cowden syndrome 4
def: "A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid." []
xref: MedGen:C3554517
xref: MedGen:CN166605
xref: MeSH:D006223
xref: MIM:615107 "phenotype"
[Term]
id: DI-03696
name: Cowden syndrome 5
def: "A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid." []
xref: MedGen:C3554518
xref: MedGen:CN166606
xref: MeSH:D006223
xref: MIM:615108 "phenotype"
[Term]
id: DI-03697
name: Cowden syndrome 6
def: "A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid." []
xref: MedGen:C3554519
xref: MedGen:CN166607
xref: MeSH:D006223
xref: MIM:615109 "phenotype"
[Term]
id: DI-03698
name: Dihydrolipoamide dehydrogenase deficiency
def: "An autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism." []
synonym: "DLD deficiency" [UniProt]
synonym: "E3 deficiency" [UniProt]
synonym: "Lactic acidosis due to lipoamide dehydrogenase deficiency" [UniProt]
synonym: "Maple syrup urine disease, type III" [UniProt]
synonym: "MSUD type III" [UniProt]
synonym: "MSUD3" [UniProt]
xref: MedGen:C3492932
xref: MedGen:C3495355
xref: MedGen:CN043137
xref: MeSH:D000140
xref: MeSH:D008375
xref: MIM:246900 "phenotype"
[Term]
id: DI-03699
name: Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
def: "An autosomal dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth." []
xref: MedGen:C1834969
xref: MedGen:C3549874
xref: MeSH:D001848
xref: MIM:156510 "phenotype"
[Term]
id: DI-03701
name: Melanoma, cutaneous malignant 9
def: "A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but may also involve other sites." []
synonym: "Cutaneous malignant melanoma 9" [UniProt]
xref: MedGen:C3554574
xref: MedGen:CN168272
xref: MeSH:D008545
xref: MIM:615134 "phenotype"
[Term]
id: DI-03702
name: Lymphoproliferative syndrome 2
def: "An autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impaired T-cell-dependent B-cell responses and T-cell dysfunction. The phenotype is highly variable, ranging from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation." []
synonym: "CD27 deficiency" [UniProt]
xref: MedGen:C3554540
xref: MedGen:CN168059
xref: MeSH:D008232
xref: MIM:615122 "phenotype"
[Term]
id: DI-03703
name: Microphthalmia, isolated, 8
def: "A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present." []
xref: MedGen:C3554524
xref: MedGen:CN168068
xref: MeSH:D008850
xref: MIM:615113 "phenotype"
[Term]
id: DI-03704
name: Microphthalmia/Coloboma 9
def: "A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure)." []
synonym: "Microphthalmia, isolated, with coloboma, 9" [UniProt]
xref: MedGen:C3554592
xref: MedGen:CN168287
xref: MeSH:D003103
xref: MeSH:D008850
xref: MIM:615145 "phenotype"
[Term]
id: DI-03705
name: Emery-Dreifuss muscular dystrophy 7, autosomal dominant
def: "A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects." []
synonym: "EMD7" [UniProt]
xref: MedGen:C3553060
xref: MedGen:CN168055
xref: MeSH:D020389
xref: MIM:614302 "phenotype"
[Term]
id: DI-03706
name: Urofacial syndrome 2
def: "A rare autosomal recessive disorder characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. Affected individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure." []
xref: MedGen:C3554520
xref: MedGen:CN168069
xref: MeSH:D014570
xref: MeSH:D019066
xref: MIM:615112 "phenotype"
[Term]
id: DI-03707
name: Mitochondrial complex IV deficiency, nuclear type 6
def: "An autosomal recessive multisystem disorder with variable manifestations. Some patients present in the neonatal period with encephalomyopathic features, whereas others present later in the first year of life with developmental regression. Clinical features include microcephaly, encephalopathy, hypertrophic cardiomyopathy, persistent lactic acidosis, respiratory distress, hypotonia and seizures. Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels." []
synonym: "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2" [UniProt]
synonym: "CEMCOX2" [UniProt]
xref: MedGen:C3554534
xref: MedGen:CN166800
xref: MeSH:D002312
xref: MeSH:D017237
xref: MeSH:D030401
xref: MIM:615119 "phenotype"
[Term]
id: DI-03708
name: Facial dysmorphism, immunodeficiency, livedo, and short stature
def: "A syndrome characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, and immunodeficiency resulting in recurrent infections. Growth impairment is observed during early childhood and results in variable short stature in adulthood." []
synonym: "FILS syndrome" [UniProt]
xref: MedGen:C3554576
xref: MedGen:CN168278
xref: MeSH:D006130
xref: MeSH:D007153
xref: MeSH:D019066
xref: MeSH:D054068
xref: MIM:615139 "phenotype"
[Term]
id: DI-03709
name: Glaucoma 1, open angle, P
def: "A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. GLC1P is characterized by early onset, thin central corneas and low intraocular pressure." []
synonym: "Primary open angle glaucoma 1P" [UniProt]
xref: MedGen:C1867465
xref: MeSH:D005902
xref: MIM:177700 "phenotype"
[Term]
id: DI-03710
name: Combined D-2- and L-2-hydroxyglutaric aciduria
def: "An autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts." []
xref: MedGen:C2746066
xref: MeSH:D020739
xref: MIM:615182 "phenotype"
[Term]
id: DI-03711
name: Kenny-Caffey syndrome 2
def: "A disorder characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism with hypocalcemia. Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia, and frontal bossing with a triangular face." []
synonym: "Dwarfism with cortical thickening of tubular bones and transient hypocalcemia" [UniProt]
synonym: "Kenny syndrome" [UniProt]
xref: MedGen:C0265291
xref: MeSH:D006958
xref: MIM:127000 "phenotype"
[Term]
id: DI-03712
name: Gracile bone dysplasia
def: "A perinatally lethal condition characterized by narrowing of the medullary cavity of the long bones and of the skull, gracile bones with thin diaphyses, premature closure of basal cranial sutures, and microphthalmia. Most affected individuals who survive beyond the perinatal period develop hypocalcemia with low parathyroid hormone levels." []
synonym: "Habrodysplasia" [UniProt]
synonym: "Lethal skeletal dysplasia with gracile bones" [UniProt]
synonym: "Osteocraniosplenic syndrome" [UniProt]
synonym: "Osteocraniostenosis" [UniProt]
xref: MedGen:C1865639
xref: MeSH:D001848
xref: MeSH:D019465
xref: MIM:602361 "phenotype"
[Term]
id: DI-03713
name: Mitochondrial complex V deficiency, mitochondrial 2
def: "A mitochondrial disorder with heterogeneous clinical manifestations including neuropathy, ataxia, hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy can present with negligible to extreme hypertrophy, minimal to extensive fibrosis and myocyte disarray, absent to severe left ventricular outflow tract obstruction, and distinct septal contours/morphologies with extremely varying clinical course." []
synonym: "Apical hypertrophic cardiomyopathy and neuropathy" [UniProt]
synonym: "Infantile hypertrophic cardiomyopathy" [UniProt]
synonym: "Mitochondrial complex V (ATP synthase) deficiency mitochondrial type 2" [UniProt]
xref: MeSH:D028361
xref: MIM:516070 "gene+phenotype"
[Term]
id: DI-03714
name: Mitochondrial complex V deficiency, mitochondrial 1
def: "A mitochondrial disorder with heterogeneous clinical manifestations including neuropathy, ataxia, hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy can present with negligible to extreme hypertrophy, minimal to extensive fibrosis and myocyte disarray, absent to severe left ventricular outflow tract obstruction, and distinct septal contours/morphologies with extremely varying clinical course." []
synonym: "Adult-onset ataxia and polyneuropathy" [UniProt]
synonym: "Infantile hypertrophic cardiomyopathy" [UniProt]
synonym: "Mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1" [UniProt]
xref: MedGen:C3275684
xref: MeSH:D028361
xref: MIM:500015 "phenotype"
[Term]
id: DI-03715
name: Myxoid liposarcoma
def: "A soft tissue tumor that tends to occur in the limbs (especially the thigh) of patients ranging in age from 35 to 55 years. It is defined by the presence of a hypocellular spindle cell proliferation set in a myxoid background, often with mucin pooling. Lipoblasts tend to be small and often monovacuolated and to cluster around vessels or at the periphery of the lesion." []
xref: MedGen:C0206634
xref: MeSH:D018208
xref: MIM:613488 "phenotype"
[Term]
id: DI-03716
name: Smith-McCort dysplasia 2
def: "A rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. It is characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest." []
xref: MedGen:C3714896
xref: MedGen:CN169378
xref: MeSH:D010009
xref: MIM:615222 "phenotype"
[Term]
id: DI-03717
name: Persistent polyclonal B-cell lymphocytosis
def: "An autosomal dominant condition characterized by onset in infancy of splenomegaly and polyclonal expansion of B cells, resulting in peripheral lymphocytosis. Affected individuals also show mild immune dysfunction, including some defective antibody responses and T-cell anergy. There may be a predisposition to the development of B-cell malignancy." []
xref: MedGen:C1847973
xref: MeSH:D008218
xref: MIM:606445 "phenotype"
[Term]
id: DI-03718
name: Advanced sleep phase syndrome, familial, 2
def: "An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms." []
xref: MedGen:C3808874
xref: MedGen:CN169521
xref: MeSH:D020178
xref: MIM:615224 "phenotype"
[Term]
id: DI-03719
name: Temtamy syndrome
def: "An autosomal recessive syndrome characterized by intellectual disability, variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus." []
xref: MedGen:C1857512
xref: MeSH:D003103
xref: MeSH:D019465
xref: MeSH:D061085
xref: MIM:218340 "phenotype"
[Term]
id: DI-03720
name: Hyperphosphatasia with impaired intellectual development syndrome 3
def: "An autosomal recessive disorder usually characterized by intellectual disability, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase." []
synonym: "Glycosylphosphatidylinositol biosynthesis defect 8" [UniProt]
synonym: "GPIBD8" [UniProt]
synonym: "MRT17" [UniProt]
synonym: "MRT21" [UniProt]
xref: MedGen:C3280153
xref: MeSH:D008607
xref: MeSH:D010760
xref: MIM:614207 "phenotype"
[Term]
id: DI-03721
name: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12
def: "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease." []
synonym: "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12" [UniProt]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease POMK-related" [UniProt]
xref: MedGen:C3808964
xref: MedGen:CN169987
xref: MeSH:D058494
xref: MIM:615249 "phenotype"
[Term]
id: DI-03722
name: Congenital disorder of glycosylation 2M
def: "An X-linked dominant, severe neurologic disorder characterized by developmental delay, hypotonia, ocular anomalies, and brain malformations. Othere more variable clinical features included seizures, hypsarrhythmia, poor feeding, microcephaly, recurrent infections, dysmorphic features, shortened limbs, and coagulation defects. Congenital disorders of glycosylation are caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins and a wide variety of clinical features. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions." []
synonym: "CDG IIm" [UniProt]
synonym: "CDG-IIm" [UniProt]
synonym: "CDGIIm" [UniProt]
synonym: "Congenital disorder of glycosylation type IIm" [UniProt]
synonym: "Congenital disorder of glycosylation X-linked" [UniProt]
synonym: "DEE22" [UniProt]
synonym: "Developmental and epileptic encephalopathy 22" [UniProt]
synonym: "EIEE22" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 22" [UniProt]
xref: MedGen:C3806688
xref: MedGen:CN169673
xref: MeSH:D013036
xref: MeSH:D018981
xref: MIM:300896 "phenotype"
[Term]
id: DI-03723
name: Agammaglobulinemia 7, autosomal recessive
def: "A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life." []
synonym: "Agammaglobulinemia autosomal recessive due to PIK3R1 defect" [UniProt]
xref: MedGen:C3554689
xref: MedGen:CN169371
xref: MeSH:D000361
xref: MIM:615214 "phenotype"
[Term]
id: DI-03724
name: Ataxia-oculomotor apraxia 3
def: "An autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia and peripheral neuropathy." []
xref: MedGen:C3554690
xref: MedGen:CN169372
xref: MeSH:D001072
xref: MeSH:D002524
xref: MIM:615217 "phenotype"
[Term]
id: DI-03725
name: Hydrocephalus, congenital, 2, with or without brain or eye anomalies
def: "A form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC2 affected individuals have variable neurologic impairment. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and non-specific dysmorphic features, may be observed. HYC2 inheritance is autosomal recessive." []
synonym: "Hydrocephalus, non-syndromic, autosomal recessive 2" [UniProt]
xref: MedGen:C3554691
xref: MeSH:D006849
xref: MIM:615219 "phenotype"
[Term]
id: DI-03726
name: Schizophrenia 18
def: "A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder." []
synonym: "Schizophrenia 18 with or without an affective disorder" [UniProt]
xref: MedGen:C3808913
xref: MedGen:CN169674
xref: MeSH:D012559
xref: MIM:615232 "phenotype"
[Term]
id: DI-03727
name: Retinitis pigmentosa 66
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C3715216
xref: MedGen:CN169677
xref: MeSH:D012174
xref: MIM:615233 "phenotype"
[Term]
id: DI-03728
name: Anemia, hypochromic microcytic, with iron overload 2
def: "A hematologic disease characterized by abnormal hemoglobin content in the erythrocytes which are reduced in size, severe anemia, erythropoietic hyperplasia of bone marrow, massive hepatic iron deposition, and hepatosplenomegaly." []
xref: MedGen:C3808920
xref: MedGen:CN169678
xref: MeSH:D000747
xref: MIM:615234 "phenotype"
[Term]
id: DI-03729
name: Cardiomyopathy, dilated, 1JJ
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C3808935
xref: MedGen:CN169679
xref: MeSH:D002311
xref: MIM:615235 "phenotype"
[Term]
id: DI-03730
name: Cardiomyopathy, dilated, 1KK
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C3714995
xref: MedGen:CN169881
xref: MeSH:D002311
xref: MIM:615248 "phenotype"
[Term]
id: DI-03731
name: Cardiomyopathy, familial hypertrophic, 22
def: "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death." []
xref: MedGen:C3714998
xref: MedGen:CN169882
xref: MeSH:D024741
xref: MIM:615248 "phenotype"
[Term]
id: DI-03732
name: Cardiomyopathy, familial restrictive 4
def: "A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function." []
xref: MedGen:C3808963
xref: MedGen:CN169883
xref: MeSH:D002313
xref: MIM:615248 "phenotype"
[Term]
id: DI-03733
name: Gastrointestinal defects and immunodeficiency syndrome 1
def: "An autosomal recessive congenital disorder in which obstructions occur at various levels throughout the small and large intestines, ultimately leading to organ failure. Surgical interventions are palliative but do not provide long-term survival. Some patients exhibit inflammatory bowel disease (IBD), with or without intestinal atresia, and in some cases, the intestinal features are associated with either mild or severe combined immunodeficiency." []
synonym: "Familial intestinal polyatresia syndrome" [UniProt]
synonym: "FIPA" [UniProt]
synonym: "Gastrointestinal defects and immunodeficiency syndrome" [UniProt]
synonym: "GIDID" [UniProt]
synonym: "Intestinal atresia, multiple" [UniProt]
synonym: "Intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency" [UniProt]
synonym: "MIA" [UniProt]
synonym: "MINAT" [UniProt]
synonym: "Multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency" [UniProt]
xref: MedGen:C0220744
xref: MeSH:D007409
xref: MIM:243150 "phenotype"
[Term]
id: DI-03734
name: Congenital short bowel syndrome, X-linked
def: "A disease characterized by a shortened small intestine, and malabsorption. The mean length of the small intestine in affected individuals is approximately 50 cm, compared with a normal length at birth of 190-280 cm. It is associated with significant mortality and morbidity. Infants usually present with failure to thrive, recurrent vomiting, and diarrhea." []
xref: MedGen:CN177834
xref: MeSH:D012778
xref: MIM:300048 "phenotype"
[Term]
id: DI-03735
name: Leukemia, chronic myeloid
def: "A clonal myeloproliferative disorder of a pluripotent stem cell with a specific cytogenetic abnormality, the Philadelphia chromosome (Ph), involving myeloid, erythroid, megakaryocytic, B-lymphoid, and sometimes T-lymphoid cells, but not marrow fibroblasts." []
synonym: "Chronic myelogenous leukemia" [UniProt]
xref: MedGen:C0023473
xref: MeSH:D015464
xref: MIM:608232 "phenotype"
[Term]
id: DI-03736
name: Mitochondrial complex III deficiency, nuclear type 3
def: "A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance." []
xref: MedGen:C3554606
xref: MedGen:CN177727
xref: MeSH:D017237
xref: MIM:615158 "phenotype"
[Term]
id: DI-03737
name: Mitochondrial complex III deficiency, nuclear type 4
def: "A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance." []
xref: MedGen:C3554607
xref: MedGen:CN169525
xref: MeSH:D017237
xref: MIM:615159 "phenotype"
[Term]
id: DI-03738
name: Mitochondrial complex III deficiency, nuclear type 2
def: "A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance." []
xref: MedGen:C3554605
xref: MedGen:CN169526
xref: MeSH:D017237
xref: MIM:615157 "phenotype"
[Term]
id: DI-03739
name: Mitochondrial complex III deficiency, nuclear type 5
def: "A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance." []
xref: MedGen:C3554608
xref: MedGen:CN169524
xref: MeSH:D017237
xref: MIM:615160 "phenotype"
[Term]
id: DI-03740
name: Mitochondrial complex V deficiency, nuclear type 4B
def: "An autosomal recessive mitochondrial disorder characterized by severe neonatal encephalopathy resulting in death in the first weeks of life. Affected individuals do not show dysmorphic features or organomegaly, and manifest neurologic features such as irritability, a high-pitched cry, a horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation. Post-mortem anatomopathological examination shows extensive cerebral damage, hypoplastic lungs, and renal and skeletal lesions." []
synonym: "Mitochondrial complex V (ATP synthase) deficiency ATP5A1 type" [UniProt]
synonym: "Mitochondrial complex V (ATP synthase) deficiency type 4" [UniProt]
synonym: "Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B, encephalopathic type" [UniProt]
xref: MedGen:C3808899
xref: MeSH:D017237
xref: MIM:615228 "phenotype"
[Term]
id: DI-03741
name: Ohdo syndrome, X-linked
def: "A syndrome characterized by intellectual disability, feeding problems, and distinctive facial appearance with coarse facial features, severe blepharophimosis, ptosis, a bulbous nose, micrognathia and a small mouth. Dental hypoplasia and deafness can be considered as common manifestations of the syndrome. Male patients show cryptorchidism and scrotal hypoplasia." []
synonym: "Ohdo syndrome Maat-Kievit-Brunner type" [UniProt]
synonym: "Ohdo syndrome MKB type" [UniProt]
xref: MedGen:C3698541
xref: MedGen:CN169514
xref: MeSH:D001763
xref: MeSH:D008607
xref: MeSH:D016569
xref: MIM:300895 "phenotype"
[Term]
id: DI-03743
name: Congenital short bowel syndrome
def: "A disease characterized by a shortened small intestine, intestinal malrotation, and malabsorption. The mean length of the small intestine in CSBS patients is approximately 50 cm, compared with a normal length at birth of 190-280 cm. Patients with CSBS may develop severe malnutrition as a result of the hugely reduced absorptive surface of the small intestine. Infants require parenteral nutrition for survival. However, parenteral nutrition itself causes life-threatening complications such as sepsis and liver failure which are associated with a high rate of mortality early in life." []
synonym: "Congenital short bowel and malrotation syndrome" [UniProt]
synonym: "CSBM" [UniProt]
xref: MedGen:C0021847
xref: MedGen:CN169861
xref: MeSH:D012778
xref: MIM:615237 "phenotype"
[Term]
id: DI-03744
name: Lissencephaly 5
def: "An autosomal recessive brain malformation characterized by cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia. Affected individuals have hydrocephalus, seizures, and severely delayed psychomotor development." []
xref: MedGen:C3554657
xref: MedGen:CN169267
xref: MeSH:D054082
xref: MIM:615191 "phenotype"
[Term]
id: DI-03745
name: Spastic paraplegia 46, autosomal recessive
def: "A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging." []
xref: MedGen:C2828721
xref: MeSH:D015419
xref: MIM:614409 "phenotype"
[Term]
id: DI-03746
name: Polydactyly, postaxial A6
def: "A condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal." []
xref: MedGen:C3808889
xref: MedGen:CN169515
xref: MeSH:D017689
xref: MIM:615226 "phenotype"
[Term]
id: DI-03747
name: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11
def: "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease." []
synonym: "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11" [UniProt]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related" [UniProt]
xref: MedGen:C3554638
xref: MedGen:CN168979
xref: MeSH:D058494
xref: MIM:615181 "phenotype"
[Term]
id: DI-03748
name: Lipodystrophy, familial partial, 5
def: "A form of lipodystrophy characterized by loss of subcutaneous adipose tissue affecting limb, femorogluteal and subcutaneous abdominal fat, preservation of visceral, neck and axilliary fat, hepatomegaly, hepatic steatosis and insulin-resistant diabetes." []
synonym: "Familial partial lipodystrophy associated with CIDEC mutations" [UniProt]
xref: MedGen:C3808940
xref: MedGen:CN169867
xref: MeSH:D052496
xref: MIM:615238 "phenotype"
[Term]
id: DI-03749
name: Albinism, oculocutaneous, 7
def: "A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus." []
synonym: "Oculocutaneous albinism type VII" [UniProt]
xref: MedGen:C3554632
xref: MedGen:CN169528
xref: MeSH:D016115
xref: MIM:615179 "phenotype"
[Term]
id: DI-03750
name: Cardiomyopathy, dilated, 1II
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C3554649
xref: MedGen:CN168962
xref: MeSH:D002311
xref: MIM:615184 "phenotype"
[Term]
id: DI-03751
name: Nephrotic syndrome 8
def: "A form of nephrotic syndrome, a renal disease clinically characterized by progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show diffuse mesangial sclerosis, with small glomeruli, hypercellularity, increased extracellular matrix, and contracted/collapsed glomerular tufts surrounded by immature or abnormal podocytes." []
xref: MedGen:C3808953
xref: MedGen:CN169878
xref: MeSH:D009404
xref: MIM:615244 "phenotype"
[Term]
id: DI-03752
name: Bleeding disorder, platelet-type, 16
def: "An autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities." []
synonym: "Glanzmann thrombasthenia-like with macrothrombocytopenia 1" [UniProt]
xref: MedGen:C1861195
xref: MeSH:D006470
xref: MeSH:D013915
xref: MIM:187800 "phenotype"
[Term]
id: DI-03753
name: Bleeding disorder, platelet-type, 15
def: "An autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities." []
synonym: "Autosomal dominant macrothrombocytopenia ACTN1-related" [UniProt]
xref: MedGen:C3554663
xref: MedGen:CN169278
xref: MeSH:D001791
xref: MeSH:D006470
xref: MIM:615193 "phenotype"
[Term]
id: DI-03754
name: Osteogenesis imperfecta 15
def: "An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI15 is characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclerae. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients." []
synonym: "OI type XV" [UniProt]
synonym: "OI-XV" [UniProt]
synonym: "Osteogenesis imperfecta type XV" [UniProt]
xref: MedGen:C3808844
xref: MedGen:CN169385
xref: MeSH:D010013
xref: MIM:615220 "phenotype"
[Term]
id: DI-03755
name: Dyskeratosis congenita, autosomal recessive, 5
def: "A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. DKCB5 is characterized by onset of bone marrow failure and immunodeficiency in early childhood. Most patients also have growth and developmental delay and cerebellar hypoplasia, consistent with a clinical diagnosis of Hoyeraal-Hreidarsson syndrome." []
xref: MedGen:C3554656
xref: MedGen:CN169266
xref: MeSH:D019871
xref: MIM:615190 "phenotype"
[Term]
id: DI-03756
name: Maple syrup urine disease, mild variant
def: "A mild form of maple syrup urine disease, a metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated. MSUDMV is characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth. Treatment with a low-protein diet free of BCAA can result in normal psychomotor development and lack of metabolic episodes." []
xref: MedGen:C3554575
xref: MedGen:CN168515
xref: MeSH:D008375
xref: MIM:615135 "phenotype"
[Term]
id: DI-03757
name: Neurodegeneration with brain iron accumulation 5
def: "A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA5 is characterized by global developmental delay in early childhood that is essentially static, with slow motor and cognitive gains until adolescence or early adulthood. In young adulthood, affected individuals develop progressive dystonia, parkinsonism, extrapyramidal signs, and dementia resulting in severe disability." []
synonym: "Beta-propeller protein-associated neurodegeneration" [UniProt]
synonym: "BPAN" [UniProt]
synonym: "SENDA" [UniProt]
synonym: "Static encephalopathy of childhood with neurodegeneration in adulthood" [UniProt]
xref: MedGen:C3550973
xref: MedGen:CN169527
xref: MeSH:D001480
xref: MeSH:D019150
xref: MeSH:D019189
xref: MIM:300894 "phenotype"
[Term]
id: DI-03758
name: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6
def: "A disorder characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance, and mitochondrial DNA deletions on muscle biopsy. Symptoms may appear in childhood or adulthood and show slow progression." []
synonym: "Progressive external ophthalmoplegia autosomal dominant 6" [UniProt]
xref: MedGen:C3554599
xref: MedGen:CN169523
xref: MeSH:D017246
xref: MIM:615156 "phenotype"
[Term]
id: DI-03759
name: Charcot-Marie-Tooth disease, dominant intermediate F
def: "A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. CMTDIF is characterized by onset around adolescence of slowly progressive distal muscle atrophy and weakness affecting the upper and lower limbs and resulting in steppage gait. There is distal sensory impairment with decreased reflexes. Nerve conduction velocities are variable, ranging from the demyelinating to the axonal range." []
xref: MedGen:C3554654
xref: MedGen:CN168980
xref: MeSH:D002607
xref: MIM:615185 "phenotype"
[Term]
id: DI-03760
name: Bruck syndrome 1
def: "A disease characterized by generalized osteopenia, congenital joint contractures, fragile bones with onset of fractures in infancy or early childhood, short stature, severe limb deformity, progressive scoliosis, and pterygia." []
synonym: "Arthrogryposis-like disorder" [UniProt]
synonym: "Kuskokwim disease" [UniProt]
xref: MedGen:C1850168
xref: MeSH:D001176
xref: MeSH:D010009
xref: MIM:259450 "phenotype"
[Term]
id: DI-03761
name: Immunodeficiency 11 A
def: "An autosomal recessive primary immunodeficiency characterized by normal numbers of T and B-lymphocytes, but defective intracellular signaling. There is a block in B-cell differentiation with increased numbers of transitional B-cells and hypogammaglobulinemia, as well as decreased numbers of regulatory T-cells and defects in T-cell function." []
synonym: "CARD11 immunodeficiency" [UniProt]
synonym: "IMD11" [UniProt]
synonym: "Immunodeficiency 11" [UniProt]
xref: MedGen:C3554686
xref: MedGen:CN169370
xref: MeSH:D007153
xref: MIM:615206 "phenotype"
[Term]
id: DI-03762
name: Palmoplantar carcinoma, multiple self-healing
def: "An autosomal dominant disease characterized by keratopathy with neovascularization, bilateral corneal opacification, palmoplantar hyperkeratosis, dyshidrosis, dystrophic nails, and recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma." []
synonym: "CIDED" [UniProt]
synonym: "Corneal intraepithelial dyskeratosis and ectodermal dysplasia" [UniProt]
xref: MedGen:C3808876
xref: MedGen:CN169519
xref: MeSH:D003316
xref: MeSH:D004476
xref: MIM:615225 "phenotype"
[Term]
id: DI-03763
name: Abruzzo-Erickson syndrome
def: "A disease characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis." []
synonym: "X-linked Charge-like syndrome" [UniProt]
xref: MedGen:C1844862
xref: MeSH:D006314
xref: MeSH:D017880
xref: MeSH:D019767
xref: MIM:302905 "phenotype"
[Term]
id: DI-03764
name: Immunodeficiency 56
def: "An autosomal recessive primary immunodeficiency characterized by B- and T-cell defects and variable dysfunction of NK cells. Patients tend to have normal numbers of lymphocytes, but show defective class- switched B-cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens." []
synonym: "Autosomal recessive primary immunodeficiency IL21R-related" [UniProt]
synonym: "IL21R immunodeficiency" [UniProt]
xref: MedGen:C3554687
xref: MeSH:D007153
xref: MIM:615207 "phenotype"
[Term]
id: DI-03765
name: Myopathy, tubular aggregate, 1
def: "A rare congenital myopathy characterized by regular arrays of membrane tubules on muscle biopsies without additional histopathological hallmarks. Tubular aggregates in muscle are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They may occur in a variety of circumstances, including inherited myopathies, alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness." []
synonym: "TAM" [UniProt]
synonym: "Tubular aggregate myopathy" [UniProt]
xref: MedGen:C0410207
xref: MeSH:D020914
xref: MIM:160565 "phenotype"
[Term]
id: DI-03766
name: Welander distal myopathy
def: "An autosomal dominant disorder characterized by adult onset of distal muscle weakness predominantly affecting the distal long extensors of the hands, with slow progression to involve all small hand muscles and the lower legs. Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles. Rare homozygous patients showed earlier onset, faster progression, and proximal muscle involvement." []
synonym: "Late-onset autosomal dominant distal muscular dystrophy" [UniProt]
synonym: "Swedish distal myopathy" [UniProt]
xref: MedGen:C0221054
xref: MeSH:D049310
xref: MIM:604454 "phenotype"
[Term]
id: DI-03767
name: Glaucoma 1, open angle, F
def: "A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place." []
synonym: "Adult-onset primary open angle glaucoma" [UniProt]
synonym: "POAG" [UniProt]
synonym: "Primary open angle glaucoma 1F" [UniProt]
xref: MedGen:C1863926
xref: MeSH:D005902
xref: MIM:603383 "phenotype"
[Term]
id: DI-03768
name: Hypogonadotropic hypogonadism 17 with or without anosmia
def: "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH)." []
xref: MedGen:C3808971
xref: MedGen:CN170853
xref: MeSH:D007006
xref: MIM:615266 "phenotype"
[Term]
id: DI-03769
name: Hypogonadotropic hypogonadism 18 with or without anosmia
def: "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH)." []
xref: MedGen:C3808975
xref: MedGen:CN170854
xref: MeSH:D007006
xref: MIM:615267 "phenotype"
[Term]
id: DI-03770
name: Hypogonadotropic hypogonadism 19 with or without anosmia
def: "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH)." []
xref: MedGen:C3808981
xref: MedGen:CN170855
xref: MeSH:D007006
xref: MIM:615269 "phenotype"
[Term]
id: DI-03771
name: Hypogonadotropic hypogonadism 20 with or without anosmia
def: "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH)." []
xref: MedGen:C3808983
xref: MedGen:CN170856
xref: MeSH:D007006
xref: MIM:615270 "phenotype"
[Term]
id: DI-03772
name: Hypogonadotropic hypogonadism 21 with or without anosmia
def: "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH)." []
xref: MedGen:C3808986
xref: MedGen:CN170857
xref: MeSH:D007006
xref: MIM:615271 "phenotype"
[Term]
id: DI-03773
name: Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4
def: "An autosomal recessive, congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and intellectual disability." []
xref: MedGen:C3808977
xref: MedGen:CN176751
xref: MeSH:D002524
xref: MeSH:D008607
xref: MIM:615268 "phenotype"
[Term]
id: DI-03774
name: Congenital disorder of deglycosylation 1
def: "An autosomal recessive multisystem disorder characterized by developmental delay, hypotonia, abnormal involuntary movements and alacrima or poor tear production. Other features include microcephaly, intractable seizures, abnormal eye movements and evidence of liver dysfunction, probably due to cytoplasmic accumulation of storage material in vacuoles." []
synonym: "CDDG" [UniProt]
synonym: "CDG Iv" [UniProt]
synonym: "CDG-Iv" [UniProt]
synonym: "CDG1V" [UniProt]
synonym: "CDGIv" [UniProt]
synonym: "Congenital disorder of deglycosylation" [UniProt]
synonym: "Congenital disorder of glycosylation 1V" [UniProt]
synonym: "Congenital disorder of glycosylation type Iv" [UniProt]
xref: MedGen:C3808991
xref: MedGen:CN176766
xref: MeSH:D002239
xref: MIM:615273 "phenotype"
[Term]
id: DI-03775
name: Hypomyelination with brainstem and spinal cord involvement and leg spasticity
def: "An autosomal recessive leukoencephalopathy characterized by onset in the first year of life of severe spasticity, mainly affecting the lower limbs and resulting in an inability to achieve independent ambulation. Affected individuals show delayed motor development and nystagmus; some may have mild intellectual disability. Brain MRI shows hypomyelination and white matter lesions in the cerebrum, brainstem, cerebellum, and spinal cord." []
xref: MedGen:C3809008
xref: MedGen:CN176915
xref: MeSH:D009128
xref: MeSH:D020279
xref: MIM:615281 "phenotype"
[Term]
id: DI-03776
name: Cataract 20, multiple types
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT20 includes progressive polymorphic anterior, posterior, or peripheral cortical." []
xref: MedGen:C0524524
xref: MeSH:D002386
xref: MIM:116100 "phenotype"
[Term]
id: DI-03777
name: Dystonia 4, torsion, autosomal dominant
def: "A form of torsion dystonia, a disease defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. 'Torsion' refers to the twisting nature of body movements, often affecting the trunk. DYT4 is characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait." []
synonym: "Dystonia musculorum deformans 4" [UniProt]
synonym: "Dystonia-4" [UniProt]
synonym: "Hereditary whispering dysphonia" [UniProt]
xref: MedGen:C1851943
xref: MeSH:D004422
xref: MIM:128101 "phenotype"
[Term]
id: DI-03778
name: Leukodystrophy, hypomyelinating, 6
def: "A neurologic disorder characterized by onset in infancy or early childhood of delayed motor development and gait instability, followed by extrapyramidal movement disorders, such as dystonia, choreoathetosis, rigidity, opisthotonus, and oculogyric crises, progressive spastic tetraplegia, ataxia, and, more rarely, seizures. Most patients have cognitive decline and speech delay, but some can function normally. Brain MRI shows a combination of hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen." []
synonym: "HABC" [UniProt]
synonym: "Hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum" [UniProt]
xref: MedGen:C2676244
xref: MeSH:D020279
xref: MIM:612438 "phenotype"
[Term]
id: DI-03779
name: Cardiofaciocutaneous syndrome 2
def: "A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1." []
xref: MedGen:C3809005
xref: MedGen:CN176912
xref: MeSH:D004476
xref: MeSH:D006330
xref: MIM:615278 "phenotype"
[Term]
id: DI-03780
name: Cardiofaciocutaneous syndrome 3
def: "A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures." []
xref: MedGen:C3809006
xref: MedGen:CN176913
xref: MeSH:D004476
xref: MeSH:D006330
xref: MIM:615279 "phenotype"
[Term]
id: DI-03781
name: Cardiofaciocutaneous syndrome 4
def: "A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices." []
xref: MedGen:C3809007
xref: MedGen:CN176914
xref: MeSH:D004476
xref: MeSH:D006330
xref: MIM:615280 "phenotype"
[Term]
id: DI-03782
name: Cataract 15, multiple types
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT15 includes polymorphic, progressive punctate lamellar, cortical, anterior and posterior polar, nonprogressive lamellar with sutural opacities, embryonic nuclear, and pulverulent cortical, among others." []
xref: MedGen:C3809001
xref: MedGen:CN176767
xref: MeSH:D002386
xref: MIM:615274 "phenotype"
[Term]
id: DI-03783
name: Cataract, multiple types 19
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function." []
xref: MedGen:C3809004
xref: MedGen:CN176771
xref: MeSH:D002386
xref: MIM:615277 "phenotype"
[Term]
id: DI-03784
name: Charcot-Marie-Tooth disease 4B3
def: "A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4." []
synonym: "Charcot-Marie-Tooth neuropathy type 4B3" [UniProt]
xref: MedGen:C3695063
xref: MedGen:CN177020
xref: MeSH:D002607
xref: MIM:615284 "phenotype"
[Term]
id: DI-03785
name: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13
def: "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease." []
synonym: "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13" [UniProt]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease B3GNT1-related" [UniProt]
xref: MedGen:C3809042
xref: MedGen:CN177021
xref: MeSH:D058494
xref: MIM:615287 "phenotype"
[Term]
id: DI-03786
name: Capillary malformations, congenital
def: "A form of vascular malformations that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas, which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity." []
synonym: "Capillary malformations" [UniProt]
synonym: "CMAL" [UniProt]
synonym: "Familial multiple nevi flammei" [UniProt]
synonym: "Hereditary capillary malformations" [UniProt]
synonym: "Port-wine stain" [UniProt]
xref: MedGen:C0235752
xref: MedGen:C0340803
xref: MedGen:C2931029
xref: MeSH:D054079
xref: MIM:163000 "phenotype"
[Term]
id: DI-03787
name: Sturge-Weber syndrome
def: "A syndrome characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common features are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, intellectual disability, and recurrent stroke- like episodes." []
xref: MedGen:C0038505
xref: MeSH:D013341
xref: MIM:185300 "phenotype"
[Term]
id: DI-03788
name: Gordon Holmes syndrome
def: "A disease characterized by cerebellar symptoms and signs of sex steroid deficiency. Clinical features include cerebellar and brain stem atrophy, cerebellar ataxia, hypothalamic LHRH deficiency, hypogonadotrophic hypogonadism, lack of secondary sexual characteristics, and infertility." []
synonym: "CAHH" [UniProt]
synonym: "Cerebellar ataxia and hypogonadotropic hypogonadism" [UniProt]
synonym: "Deficiency of luteinizing hormone-releasing hormone with ataxia" [UniProt]
synonym: "LHRH deficiency and ataxia" [UniProt]
xref: MedGen:C1859305
xref: MeSH:D002524
xref: MeSH:D007006
xref: MIM:212840 "phenotype"
[Term]
id: DI-03789
name: Yunis-Varon syndrome
def: "A severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy." []
synonym: "Cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia" [UniProt]
xref: MedGen:C1857663
xref: MeSH:D002973
xref: MeSH:D008844
xref: MeSH:D017880
xref: MIM:216340 "phenotype"
[Term]
id: DI-03790
name: GAPO syndrome
def: "An autosomal recessive disease characterized by growth retardation, alopecia, failure of tooth eruption, and progressive optic atrophy in some patients." []
synonym: "Growth retardation, alopecia, pseudoanodontia, and optic atrophy" [UniProt]
xref: MedGen:C0406723
xref: MeSH:D000505
xref: MeSH:D000848
xref: MeSH:D006130
xref: MIM:230740 "phenotype"
[Term]
id: DI-03791
name: Wieacker-Wolf syndrome
def: "A severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero (fetal akinesia). Affected boys are born with severe contractures, known as arthrogryposis, and have delayed motor development, facial and bulbar weakness, characteristic dysmorphic facial features, and skeletal abnormalities, such as hip dislocation, scoliosis, and pes equinovarus. Those that survive infancy show intellectual disability. Carrier females may have mild features of the disorder." []
synonym: "Contractures of feet, muscle atrophy, and oculomotor apraxia" [UniProt]
synonym: "MCS" [UniProt]
synonym: "MRXS4" [UniProt]
synonym: "Oculomotor apraxia with congenital contractures and muscle atrophy" [UniProt]
synonym: "Wieacker syndrome" [UniProt]
xref: MedGen:C0796200
xref: MeSH:D001072
xref: MeSH:D003286
xref: MeSH:D009133
xref: MeSH:D009886
xref: MIM:314580 "phenotype"
[Term]
id: DI-03792
name: Myopia 6
def: "A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far." []
xref: MedGen:C1837148
xref: MeSH:D009216
xref: MIM:608908 "phenotype"
[Term]
id: DI-03793
name: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
def: "An autosomal dominant neurologic disorder characterized by adult onset of progressive cerebellar ataxia, narcolepsy, cataplexy, sensorineural deafness, and dementia. More variable features include optic atrophy, sensory neuropathy, psychosis, and depression." []
xref: MedGen:C1858804
xref: MeSH:D002524
xref: MeSH:D006319
xref: MeSH:D009290
xref: MIM:604121 "phenotype"
[Term]
id: DI-03794
name: Epilepsy, familial focal, with variable foci 1
def: "An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions in different family members. Many patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There is often secondary generalization. Some patients show abnormal interictal EEG, and some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. Penetrance of the disorder is incomplete." []
synonym: "FFEVF" [UniProt]
synonym: "FPEVF" [UniProt]
synonym: "Partial epilepsy with variable foci" [UniProt]
xref: MedGen:C1858477
xref: MeSH:D004828
xref: MIM:604364 "phenotype"
[Term]
id: DI-03795
name: Neuropathy, hereditary motor and sensory, Russe type
def: "An autosomal recessive progressive complex peripheral neuropathy characterized by onset in the first decade of distal lower limb weakness and muscle atrophy resulting in walking difficulties. Distal impairment of the upper limbs usually occurs later, as does proximal lower limb weakness. There is distal sensory impairment, with pes cavus and areflexia. Laboratory studies suggest that it is a myelinopathy resulting in reduced nerve conduction velocities in the demyelinating range as well as a length-dependent axonopathy." []
synonym: "Charcot-Marie-Tooth disease autosomal recessive type 4G" [UniProt]
synonym: "Charcot-Marie-Tooth disease type 4G" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy type 4G" [UniProt]
synonym: "CMT4G" [UniProt]
xref: MedGen:C1854449
xref: MeSH:D015417
xref: MIM:605285 "phenotype"
[Term]
id: DI-03796
name: Spermatogenic failure 3
def: "A disorder characterized by primary infertility, sperm morphologic abnormalities, and moderate to severe asthenozoospermia, condition in which the percentage of progressively motile sperm is abnormally low." []
xref: MedGen:C1847540
xref: MeSH:D053627
xref: MIM:606766 "phenotype"
[Term]
id: DI-03797
name: Microcephaly-capillary malformation syndrome
def: "A congenital disorder characterized by severe progressive microcephaly, early-onset refractory epilepsy, profound developmental delay, and multiple small capillary malformations spread diffusely on the body. Additional more variable features include dysmorphic facial features, distal limb abnormalities, and mild heart defects." []
xref: MedGen:C3280296
xref: MeSH:D008831
xref: MeSH:D054079
xref: MIM:614261 "phenotype"
[Term]
id: DI-03798
name: Hemolytic uremic syndrome, atypical, 7
def: "An atypical form of hemolytic uremic syndrome characterized by acute onset in the first year of life of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. After the acute episode, most patients develop chronic renal insufficiency. Unlike other genetic forms of aHUS, AHUS7 is not related to abnormal activation of the complement system." []
xref: MedGen:C3808619
xref: MedGen:CN170846
xref: MeSH:D065766
xref: MIM:615008 "phenotype"
[Term]
id: DI-03799
name: Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies
def: "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, and speech delay apparent from infancy or early childhood. Most patients have dysmorphic facial features, and white matter abnormalities on brain imaging. More variable features may include teeth anomalies, distal joint contractures, spasticity, peripheral neuropathy, and behavioral problems." []
synonym: "MRT36" [UniProt]
xref: MedGen:C3809039
xref: MedGen:CN178070
xref: MeSH:D008607
xref: MIM:615286 "phenotype"
[Term]
id: DI-03800
name: Multiple mitochondrial dysfunctions syndrome 3
def: "A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2- oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes." []
xref: MedGen:C3809165
xref: MedGen:CN178072
xref: MeSH:D028361
xref: MIM:615330 "phenotype"
[Term]
id: DI-03801
name: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
def: "An autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration. Patients may also show perinatal edema and pseudohyperkalemia due to loss of potassium from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis." []
synonym: "Dehydrated hereditary stomatocytosis" [UniProt]
synonym: "DHS" [UniProt]
synonym: "Familial pseudohyperkalemia 1 due to red cell leak" [UniProt]
synonym: "Hereditary desiccytosis" [UniProt]
synonym: "Hereditary xerocytosis" [UniProt]
synonym: "Pseudohyperkalemia Edinburgh" [UniProt]
synonym: "PSHK1" [UniProt]
xref: MedGen:C0272051
xref: MeSH:D000745
xref: MIM:194380 "phenotype"
[Term]
id: DI-03802
name: Nemaline myopathy 8
def: "A severe form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM8 is characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils." []
synonym: "Nemaline myopathy 8, autosomal recessive" [UniProt]
xref: MedGen:C3809209
xref: MedGen:CN178405
xref: MeSH:D017696
xref: MIM:615348 "phenotype"
[Term]
id: DI-03803
name: Breast cancer, lobular
def: "A type of breast cancer that begins in the milk-producing glands (lobules) of the breast." []
xref: MedGen:C3549742
xref: MedGen:CN178073
xref: MeSH:D001943
xref: MIM:137215 "phenotype"
[Term]
id: DI-03804
name: Symphalangism, proximal 1B
def: "A disease characterized by the hereditary absence of the proximal interphalangeal joints. Distal interphalangeal joints are less frequently involved and metacarpophalangeal joints are rarely affected whereas carpal bone malformation and fusion are common. In the lower extremities, tarsal bone coalition is common. Conductive hearing loss is seen and is due to fusion of the stapes to the petrous part of the temporal bone." []
xref: MedGen:C3809104
xref: MedGen:CN177832
xref: MeSH:D007592
xref: MIM:615298 "phenotype"
[Term]
id: DI-03805
name: Xeroderma pigmentosum type F/Cockayne syndrome
def: "A variant form of Cockayne syndrome, a disorder characterized by growth retardation, microcephaly, impairment of nervous system development, pigmentary retinopathy, peculiar facies, and progeria together with abnormal skin photosensitivity. Cockayne syndrome dermatological features are milder than those in xeroderma pigmentosum and skin cancers are not found in affected individuals. XPF/CS patients, however, present with severe skin phenotypes, including severe photosensitivity, abnormal skin pigmentation, and skin cancer predisposition." []
xref: MedGen:C3806565
xref: MedGen:CN177726
xref: MeSH:D003057
xref: MeSH:D014983
xref: MIM:278760 "phenotype"
[Term]
id: DI-03806
name: Cataract 39, multiple types
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT39 includes lamellar, anterior polar, and complete cataracts." []
xref: MedGen:C3554655
xref: MedGen:CN168984
xref: MeSH:D002386
xref: MIM:615188 "phenotype"
[Term]
id: DI-03807
name: Ciliary dyskinesia, primary, 21
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome." []
synonym: "Primary ciliary dyskinesia 21 without situs inversus" [UniProt]
xref: MedGen:C3809087
xref: MedGen:CN177725
xref: MeSH:D007619
xref: MIM:615294 "phenotype"
[Term]
id: DI-03808
name: Craniosynostosis 3
def: "A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability." []
xref: MedGen:C3715051
xref: MedGen:CN177972
xref: MeSH:D003398
xref: MIM:615314 "phenotype"
[Term]
id: DI-03809
name: Craniosynostosis 4
def: "A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability." []
xref: MedGen:C1833340
xref: MedGen:C3806917
xref: MeSH:D003398
xref: MIM:600775 "phenotype"
[Term]
id: DI-03810
name: Immunodeficiency 32A
def: "An immunologic disorder characterized by abnormal peripheral blood myeloid phenotype with a marked loss of CD11C-positive/CD1C dendritic cells, resulting in selective susceptibility to mycobacterial infections." []
synonym: "Autosomal dominant CD11C-positive/CD1C-positive dendritic cell deficiency" [UniProt]
synonym: "Autosomal dominant immunodeficiency 32A, mycobacteriosis" [UniProt]
synonym: "Autosomal dominant IRF8 deficiency" [UniProt]
xref: MedGen:C3808589
xref: MedGen:CN178080
xref: MeSH:D007153
xref: MIM:614893 "phenotype"
[Term]
id: DI-03811
name: Immunodeficiency 32B
def: "An autosomal recessive primary immunodeficiency characterized by monocyte and dendritic cell deficiency, myeloproliferation, and susceptibility to severe opportunistic infections, including disseminated BCG infection and oral candidiasis." []
synonym: "Autosomal recessive monocyte and dendritic cell deficiency" [UniProt]
synonym: "Immunodeficiency 32B, monocyte, dendritic cell, and natural killer cell deficiency, autosomal recessive" [UniProt]
synonym: "IRF8 deficiency, autosomal recessive" [UniProt]
xref: MedGen:C4016741
xref: MeSH:D007153
xref: MIM:226990 "phenotype"
[Term]
id: DI-03812
name: Fanconi anemia complementation group Q
def: "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair." []
xref: MedGen:C3808988
xref: MedGen:CN177724
xref: MeSH:D005199
xref: MIM:615272 "phenotype"
[Term]
id: DI-03813
name: Neutropenia, severe congenital 5, autosomal recessive
def: "An autosomal recessive primary immunodeficiency disorder characterized primarily by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis." []
xref: MedGen:C3809031
xref: MedGen:CN177969
xref: MeSH:D007153
xref: MeSH:D009503
xref: MIM:615285 "phenotype"
[Term]
id: DI-03814
name: Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant
def: "An autosomal dominant form of spinal muscular atrophy characterized by early-childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement. The disorder results in delayed walking, waddling gait, difficulty walking, and loss of distal reflexes. Some patients may have foot deformities or hyperlordosis, and some show mild upper motor signs, such as spasticity. Sensation, bulbar function, and cognitive function are preserved. The disorder shows very slow progression throughout life." []
xref: MedGen:C3809049
xref: MeSH:D009134
xref: MIM:615290 "phenotype"
[Term]
id: DI-03815
name: Myofibromatosis, infantile 1
def: "A rare mesenchymal disorder characterized by the development of benign tumors in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about half of the patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life. Visceral lesions are associated with high morbidity and mortality." []
synonym: "CGF" [UniProt]
synonym: "Congenital generalized fibromatosis" [UniProt]
synonym: "Juvenile myofibromatosis" [UniProt]
xref: MedGen:C0432284
xref: MedGen:C1856768
xref: MeSH:D018224
xref: MIM:228550 "phenotype"
[Term]
id: DI-03816
name: Myofibromatosis, infantile 2
def: "A rare mesenchymal disorder characterized by the development of benign tumors in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about half of the patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life. Visceral lesions are associated with high morbidity and mortality." []
xref: MedGen:C3809084
xref: MedGen:CN177831
xref: MeSH:D018224
xref: MIM:615293 "phenotype"
[Term]
id: DI-03817
name: Adams-Oliver syndrome 4
def: "A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins." []
xref: MedGen:C3809092
xref: MedGen:CN177721
xref: MeSH:D004476
xref: MeSH:D017880
xref: MIM:615297 "phenotype"
[Term]
id: DI-03818
name: Perrault syndrome 3
def: "A sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some PRLTS3 affected individuals." []
xref: MedGen:C2681413
xref: MedGen:C3808414
xref: MeSH:D006319
xref: MeSH:D023961
xref: MIM:614129 "phenotype"
[Term]
id: DI-03819
name: Perrault syndrome 4
def: "An autosomal recessive, sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile." []
xref: MedGen:C3809105
xref: MedGen:CN177835
xref: MeSH:D006319
xref: MeSH:D023961
xref: MIM:615300 "phenotype"
[Term]
id: DI-03821
name: Dowling-Degos disease 2
def: "An autosomal dominant genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails." []
xref: MedGen:C3809147
xref: MedGen:CN178067
xref: MeSH:D017444
xref: MeSH:D017495
xref: MIM:615327 "phenotype"
[Term]
id: DI-03822
name: Shaheen syndrome
def: "An autosomal recessive syndrome characterized by severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly." []
xref: MedGen:C3809160
xref: MedGen:CN178079
xref: MeSH:D008607
xref: MIM:615328 "phenotype"
[Term]
id: DI-03823
name: Developmental and epileptic encephalopathy 16
def: "A severe autosomal recessive neurologic disorder characterized by onset of seizures in the first weeks or months of life. Seizures can be of various types, are unresponsive to medication, last for long periods of time, and occur frequently. Affected infants show psychomotor regression or lack of psychomotor development, as well as other neurologic features such as extrapyramidal signs and hypotonia. Most die in childhood." []
synonym: "EIEE16" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 16" [UniProt]
xref: MedGen:C3809173
xref: MedGen:CN178082
xref: MeSH:D013036
xref: MIM:615338 "phenotype"
[Term]
id: DI-03824
name: Precocious puberty, central 2
def: "A condition defined as the development of secondary sexual characteristics in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of puberty in the population. Central precocious puberty results from premature activation of the hypothalamic-pituitary-gonadal axis." []
xref: MedGen:C3809199
xref: MedGen:CN178220
xref: MeSH:D011629
xref: MIM:615346 "phenotype"
[Term]
id: DI-03825
name: Cataract 30, multiple types
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function." []
synonym: "Pulverulent cataract 30" [UniProt]
xref: MedGen:C1861827
xref: MeSH:D002386
xref: MIM:116300 "phenotype"
[Term]
id: DI-03826
name: Tubulointerstitial kidney disease, autosomal dominant, 2
def: "A form of autosomal dominant tubulointerstitial kidney disease, a genetically heterogeneous disorder characterized by slowly progressive loss of kidney function, bland urinary sediment, hyperuricemia, absent or mildly increased albuminuria, lack of severe hypertension during the early stages, and normal or small kidneys on ultrasound. Renal histology shows variable abnormalities including interstitial fibrosis with tubular atrophy, microcystic dilatation of the tubules, thickening of tubular basement membranes, medullary cysts, and secondary glomerulosclerotic or glomerulocystic changes with abnormal glomerular tufting. There is significant variability, as well as incomplete penetrance." []
synonym: "ADMCKD1" [UniProt]
synonym: "Autosomal dominant medullary cystic kidney disease 1" [UniProt]
synonym: "MCKD" [UniProt]
synonym: "MCKD1" [UniProt]
synonym: "Medullary cystic kidney disease 1" [UniProt]
synonym: "Medullary polycystic kidneys" [UniProt]
xref: MedGen:C1868139
xref: MeSH:D052177
xref: MIM:174000 "phenotype"
[Term]
id: DI-03827
name: Scalp-ear-nipple syndrome
def: "A disease characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families." []
synonym: "Finlay-Marks syndrome" [UniProt]
synonym: "SEN syndrome" [UniProt]
xref: MedGen:C1867020
xref: MeSH:D000015
xref: MIM:181270 "phenotype"
[Term]
id: DI-03828
name: Ichthyosis, congenital, autosomal recessive 9
def: "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs." []
xref: MedGen:C3554349
xref: MedGen:CN164581
xref: MeSH:D017490
xref: MIM:615023 "phenotype"
[Term]
id: DI-03829
name: Leukemia, chronic myeloid, atypical
def: "A myeloproliferative disorder that shares clinical and laboratory features with chronic myeloid leukemia but lacks the pathognomonic Philadelphia chromosome and the corresponding BCR/ABL1 fusion transcript. Features include myeloid predominance in the bone marrow, myeloid proliferation and low leukocyte alkaline phosphatase value, splenomegaly, hepatomegaly, elevated white blood cell count. Enlarged spleen may also be associated with a hypermetabolic state, fever, weight loss, and chronic fatigue. The enlarged liver may contribute to the patient's weight loss." []
synonym: "Atypical chronic myeloid leukemia BCR-ABL1 negative" [UniProt]
xref: MedGen:C0349640
xref: MeSH:D015464
xref: MIM:608232 "phenotype"
[Term]
id: DI-03830
name: Cataract 13, with adult i phenotype
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT13 is associated with the rare adult i phenotype, in which adult red blood cells are rich in i antigen and contain low levels of I antigen." []
xref: MedGen:C0266539
xref: MedGen:C1862229
xref: MedGen:C1862230
xref: MeSH:D002386
xref: MIM:116700 "phenotype"
[Term]
id: DI-03831
name: Leber congenital amaurosis 17
def: "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or almost absent pupillary responses, photophobia, high hyperopia and keratoconus." []
xref: MedGen:C3715164
xref: MedGen:CN178541
xref: MeSH:D057130
xref: MIM:615360 "phenotype"
[Term]
id: DI-03832
name: Alzheimer disease
def: "Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death." []
synonym: "Presenile and senile dementia" [UniProt]
xref: MedGen:C0002395
xref: MedGen:C1541844
xref: MedGen:C1863053
xref: MedGen:C3549448
xref: MeSH:D000544
xref: MIM:104300 "phenotype"
[Term]
id: DI-03833
name: Emery-Dreifuss muscular dystrophy 6, X-linked
def: "A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects." []
synonym: "EMD6" [UniProt]
xref: MedGen:C2749106
xref: MeSH:D020389
xref: MIM:300696 "phenotype"
[Term]
id: DI-03834
name: Hypospadias 1, X-linked
def: "A common malformation in which the urethra opens on the ventral side of the penis, due to developmental arrest of urethral fusion. The opening can be located glandular, penile, or even more posterior in the scrotum or perineum. Hypospadias is a feature of several syndromic disorders, including the androgen insensitivity syndrome and Opitz syndrome." []
xref: MedGen:C2678098
xref: MeSH:D007021
xref: MIM:300633 "phenotype"
[Term]
id: DI-03835
name: Pulmonary hypertension, primary, 2
def: "A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs." []
xref: MedGen:CN178221
xref: MeSH:D006976
xref: MIM:615342 "phenotype"
[Term]
id: DI-03836
name: Pulmonary hypertension, primary, 3
def: "A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs." []
xref: MedGen:C3809192
xref: MedGen:CN178222
xref: MeSH:D006976
xref: MIM:615343 "phenotype"
[Term]
id: DI-03837
name: Pulmonary hypertension, primary, 4
def: "A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs." []
xref: MedGen:C3809198
xref: MedGen:CN178403
xref: MeSH:D006976
xref: MIM:615344 "phenotype"
[Term]
id: DI-03840
name: Albinism, oculocutaneous, 6
def: "A disorder characterized by a reduction or complete loss of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation often accompanied by eye symptoms such as photophobia, strabismus, moderate to severe visual impairment, and nystagmus." []
synonym: "Oculocutaneous albinism type VI" [UniProt]
xref: MedGen:C2676042
xref: MedGen:C3805375
xref: MedGen:CN178543
xref: MeSH:D016115
xref: MIM:113750 "phenotype"
[Term]
id: DI-03841
name: Hypocalcemia, autosomal dominant 1
def: "A disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include mild or asymptomatic hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications. Few patients manifest hypocalcemia and features of Bartter syndrome, including hypomagnesemia, hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronemia." []
synonym: "Autosomal dominant hypocalcemia with Bartter syndrome" [UniProt]
synonym: "Familial hypocalcemia" [UniProt]
synonym: "Hypercalciuric hypocalcemia" [UniProt]
xref: MedGen:C0342345
xref: MedGen:CN178679
xref: MeSH:D006996
xref: MIM:601198 "phenotype"
[Term]
id: DI-03842
name: Charcot-Marie-Tooth disease, X-linked dominant, 6
def: "A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy." []
synonym: "Charcot-Marie-Tooth neuropathy X-linked 6" [UniProt]
xref: MedGen:C3806702
xref: MedGen:CN178708
xref: MeSH:D002607
xref: MeSH:D015417
xref: MIM:300905 "phenotype"
[Term]
id: DI-03843
name: Nephronophthisis 16
def: "A form of nephronophthisis, a chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. Some patients have cystic kidneys of normal size and no extrarenal manifestations, whereas others have enlarged renal size and severe extrarenal defects, including hypertrophic obstructive cardiomyopathy, aortic stenosis, pulmonary stenosis, patent ductus arteriosus, situs inversus, and periportal liver fibrosis." []
xref: MedGen:C3809320
xref: MedGen:CN179770
xref: MeSH:D052177
xref: MIM:615382 "phenotype"
[Term]
id: DI-03844
name: Ehlers-Danlos syndrome, spondylodysplastic type, 2
def: "A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD2 is an autosomal recessive form characterized by an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin." []
synonym: "EDSP2" [UniProt]
synonym: "Ehlers-Danlos syndrome, progeroid type, 2" [UniProt]
xref: MedGen:C3809210
xref: MeSH:D004535
xref: MIM:615349 "phenotype"
[Term]
id: DI-03845
name: Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures
def: "A bone disease characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Additional skeletal features include elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed." []
synonym: "SEMDJL-Beighton type" [UniProt]
synonym: "Spondyloepimetaphyseal dysplasia with joint laxity Beighton type" [UniProt]
xref: MedGen:C0432243
xref: MeSH:D010009
xref: MIM:271640 "phenotype"
[Term]
id: DI-03846
name: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14
def: "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with brain anomalies, eye malformations, and profound intellectual disability. The disorder includes a severe form designated as Walker-Warburg syndrome and a less severe phenotype known as muscle-eye-brain disease. MDDGA14 features include increased muscle tone, microcephaly, cleft palate, feeding difficulties, severe muscle weakness, sensorineural hearing loss, cerebellar hypoplasia, ataxia, and retinal dysfunction." []
synonym: "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14" [UniProt]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related" [UniProt]
xref: MedGen:C3809216
xref: MedGen:CN178538
xref: MeSH:D058494
xref: MIM:615350 "phenotype"
[Term]
id: DI-03847
name: Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B14
def: "A congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and intellectual disability. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia." []
synonym: "Congenital muscular dystrophy GMPPB-related" [UniProt]
xref: MedGen:C3809221
xref: MedGen:CN178539
xref: MeSH:D009136
xref: MIM:615351 "phenotype"
[Term]
id: DI-03848
name: Muscular dystrophy-dystroglycanopathy limb-girdle C14
def: "An autosomal recessive form of muscular dystrophy characterized by mild proximal muscle weakness with onset in early childhood. Some patients may have additional features, such as mild intellectual disability or seizures." []
synonym: "LGMD2T" [UniProt]
synonym: "LGMDR19" [UniProt]
synonym: "Muscular dystrophy limb-girdle type 2T" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, autosomal recessive 19" [UniProt]
synonym: "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14" [UniProt]
synonym: "Muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related" [UniProt]
xref: MedGen:C3714932
xref: MedGen:CN178540
xref: MeSH:D049288
xref: MIM:615352 "phenotype"
[Term]
id: DI-03849
name: Noonan syndrome 8
def: "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells." []
xref: MedGen:C3809233
xref: MedGen:CN178406
xref: MeSH:D009634
xref: MIM:615355 "phenotype"
[Term]
id: DI-03850
name: Muscular dystrophy, limb-girdle, autosomal recessive 18
def: "A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness with childhood onset, resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay." []
synonym: "LGMD2S" [UniProt]
synonym: "Limb-girdle muscular dystrophy 2S" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 2S" [UniProt]
xref: MedGen:C3809236
xref: MedGen:CN178407
xref: MeSH:D049288
xref: MIM:615356 "phenotype"
[Term]
id: DI-03851
name: Hypocalcemia, autosomal dominant 2
def: "A form of hypocalcemia, a disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications." []
xref: MedGen:C3809243
xref: MedGen:CN178678
xref: MeSH:D006996
xref: MIM:615361 "phenotype"
[Term]
id: DI-03852
name: Hypocalciuric hypercalcemia, familial 2
def: "A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults." []
synonym: "Familial benign hypercalcemia type II" [UniProt]
synonym: "FBH2" [UniProt]
xref: MedGen:C1840347
xref: MeSH:D006934
xref: MIM:145981 "phenotype"
[Term]
id: DI-03853
name: Ceroid lipofuscinosis, neuronal, 13 (Kufs type)
def: "A form of neuronal ceroid lipofuscinosis characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material. CLN13 inheritance is autosomal recessive." []
synonym: "Neuronal ceroid lipofuscinosis 13 Kufs type" [UniProt]
xref: MedGen:C3715049
xref: MedGen:CN178682
xref: MeSH:D009472
xref: MIM:615362 "phenotype"
[Term]
id: DI-03854
name: Lethal congenital contracture syndrome 5
def: "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth." []
synonym: "Autosomal recessive lethal centronuclear myopathy" [UniProt]
xref: MedGen:C3809272
xref: MedGen:CN178709
xref: MeSH:D001176
xref: MIM:615368 "phenotype"
[Term]
id: DI-03855
name: Atrial fibrillation, familial, 13
def: "A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure." []
xref: MedGen:C3809311
xref: MedGen:CN179765
xref: MeSH:D001281
xref: MIM:615377 "phenotype"
[Term]
id: DI-03856
name: Atrial fibrillation, familial, 14
def: "A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure." []
xref: MedGen:C3809312
xref: MedGen:CN179766
xref: MeSH:D001281
xref: MIM:615378 "phenotype"
[Term]
id: DI-03857
name: Developmental and epileptic encephalopathy 94
def: "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE94 is an autosomal dominant, severe form characterized by onset of multiple seizure types in the first few years of life." []
synonym: "EEOC" [UniProt]
synonym: "Epileptic encephalopathy, childhood-onset" [UniProt]
xref: MedGen:C3809278
xref: MedGen:CN178848
xref: MeSH:D004827
xref: MIM:615369 "phenotype"
[Term]
id: DI-03858
name: Pulmonary hypertension, neonatal
def: "A disease characterized by elevated pulmonary artery pressure. Pulmonary hypertension in the neonate is associated with multiple underlying problems such as respiratory distress syndrome, meconium aspiration syndrome, congenital diaphragmatic hernia, bronchopulmonary dysplasia, sepsis, or congenital heart disease." []
xref: MedGen:C0032768
xref: MedGen:C3714958
xref: MeSH:D006976
xref: MIM:615371 "phenotype"
[Term]
id: DI-03859
name: Left ventricular non-compaction 8
def: "A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC8 is an autosomal dominant condition." []
synonym: "Left ventricular noncompaction 8" [UniProt]
xref: MedGen:C3809288
xref: MedGen:CN178849
xref: MeSH:D056830
xref: MIM:615373 "phenotype"
[Term]
id: DI-03860
name: Cardiomyopathy, dilated, 1LL
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C3809289
xref: MedGen:CN178850
xref: MeSH:D002311
xref: MIM:615373 "phenotype"
[Term]
id: DI-03861
name: Cone-rod dystrophy 18
def: "A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors." []
xref: MedGen:C3809299
xref: MedGen:CN178852
xref: MeSH:D000071700
xref: MIM:615374 "phenotype"
[Term]
id: DI-03862
name: Charcot-Marie-Tooth disease, recessive intermediate C
def: "A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec." []
synonym: "Charcot-Marie-Tooth neuropathy recessive intermediate C" [UniProt]
synonym: "RI-CMTC" [UniProt]
xref: MedGen:C3809309
xref: MedGen:CN179767
xref: MeSH:D002607
xref: MIM:615376 "phenotype"
[Term]
id: DI-03863
name: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
def: "An autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, metabolic abnormalities including insulin resistance and diabetes mellitus, sclerodermatous skin, and a facial appearance characterized by mandibular hypoplasia. Sensorineural deafness occurs late in the first or second decades of life." []
xref: MedGen:C3715192
xref: MedGen:CN179768
xref: MeSH:D003638
xref: MeSH:D008060
xref: MeSH:D008661
xref: MIM:615381 "phenotype"
[Term]
id: DI-03864
name: Spinocerebellar ataxia, autosomal recessive, 14
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR14 is characterized by delayed psychomotor development, severe early onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability." []
synonym: "SPARCA1" [UniProt]
synonym: "Spectrin-associated autosomal recessive cerebellar ataxia 1" [UniProt]
xref: MedGen:C3809327
xref: MedGen:CN179771
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:615386 "phenotype"
[Term]
id: DI-03865
name: Deafness, autosomal recessive, 89
def: "A form of non-syndromic deafness characterized by bilateral, prelingual, moderate to severe hearing loss affecting all frequencies." []
xref: MedGen:C3151351
xref: MeSH:D006319
xref: MIM:613916 "phenotype"
[Term]
id: DI-03866
name: Spastic paraplegia 26, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG26 is a complicated form characterized by onset in the first 2 decades of life of gait abnormalities due to lower limb spasticity and muscle weakness. Some patients have upper limb involvement. Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive." []
xref: MedGen:C1836632
xref: MeSH:D015419
xref: MIM:609195 "phenotype"
[Term]
id: DI-03867
name: Multiple system atrophy 1
def: "A progressive neurodegenerative disorder clinically characterized by parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Pathologically, it is characterized by degeneration of striatonigral and olivopontocerebellar structures, and glial cytoplasmic inclusions that consist of abnormally phosphorylated alpha-synuclein or tau." []
xref: MedGen:C0020651
xref: MedGen:C0037019
xref: MedGen:C0393571
xref: MedGen:C0393911
xref: MedGen:C3714927
xref: MeSH:D019578
xref: MIM:146500 "phenotype"
[Term]
id: DI-03868
name: SHORT syndrome
def: "A rare, multisystem disease characterized by short stature, anomalies of the anterior chamber of the eye, characteristic facial features such as triangular facies, lack of facial fat, and hypoplastic nasal alae with overhanging columella, partial lipodystrophy, hernias, hyperextensibility, and delayed dentition. The clinical phenotype can include insulin resistance, nephrocalcinosis, and hearing deficits. Developmental milestones and cognition are normal." []
synonym: "Partial lipodystrophy with Rieger anomaly and short stature" [UniProt]
synonym: "Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay" [UniProt]
xref: MedGen:C0878684
xref: MeSH:D004392
xref: MeSH:D005124
xref: MeSH:D008060
xref: MIM:269880 "phenotype"
[Term]
id: DI-03869
name: Estrogen resistance
def: "A disorder characterized by partial or complete resistance to estrogens, in the presence of elevated estrogen serum levels. Clinical features include absence of the pubertal growth spurt, delayed bone maturation, unfused epiphyses, reduced bone mineral density, osteoporosis, continued growth into adulthood and very tall adult stature. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present." []
synonym: "Estrogen insensitivity" [UniProt]
xref: MedGen:C1851467
xref: MedGen:C3809250
xref: MeSH:D004351
xref: MIM:615363 "phenotype"
[Term]
id: DI-03870
name: Epilepsy, early-onset, 5, with or without developmental delay
def: "An autosomal recessive neurologic disorder characterized by a combination of various seizure types with onset in the first decade of life or during adolescence. Most patients have developmental delay, impaired intellectual development, and behavioral abnormalities." []
synonym: "Cortical myoclonic tremor with epilepsy, familial, 5" [UniProt]
synonym: "Epilepsy, familial adult myoclonic, 5" [UniProt]
synonym: "FAME5" [UniProt]
synonym: "Familial cortical myoclonic tremor with epilepsy 5" [UniProt]
synonym: "FCMTE5" [UniProt]
xref: MedGen:C3809374
xref: MeSH:D004831
xref: MIM:615400 "phenotype"
[Term]
id: DI-03871
name: Left ventricular non-compaction 10
def: "A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC10 is an autosomal dominant condition." []
synonym: "Left ventricular noncompaction 10" [UniProt]
xref: MedGen:C3715165
xref: MedGen:CN179849
xref: MeSH:D056830
xref: MIM:615396 "phenotype"
[Term]
id: DI-03872
name: Cardiomyopathy, dilated, 1MM
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:C3809346
xref: MeSH:D002311
xref: MIM:615396 "phenotype"
[Term]
id: DI-03873
name: Meckel syndrome 11
def: "A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly." []
xref: MedGen:C3809352
xref: MedGen:CN179854
xref: MeSH:D002925
xref: MeSH:D004677
xref: MeSH:D007690
xref: MIM:615397 "phenotype"
[Term]
id: DI-03874
name: Combined oxidative phosphorylation deficiency 16
def: "An autosomal recessive, mitochondrial disorder characterized by hypertrophic cardiomyopathy, liver steatosis, and decreased levels of mitochondrial complexes I and IV in heart and skeletal muscle." []
xref: MedGen:C3809339
xref: MedGen:CN179856
xref: MeSH:D028361
xref: MIM:615395 "phenotype"
[Term]
id: DI-03875
name: Immunodeficiency 8 with lymphoproliferation
def: "A disease of the immune system leading to recurrent infections, and characterized by CD4+ T-cells lymphopenia. Patients can develop B-cell lymphoproliferation associated with Epstein-Barr virus infection." []
xref: MedGen:C3809383
xref: MedGen:CN179950
xref: MeSH:D007153
xref: MIM:615401 "phenotype"
[Term]
id: DI-03876
name: Paroxysmal nocturnal hemoglobinuria 2
def: "A disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning." []
xref: MedGen:C3809369
xref: MedGen:CN179949
xref: MeSH:D006457
xref: MIM:615399 "phenotype"
[Term]
id: DI-03877
name: Spermatogenic failure 12
def: "An infertility disorder caused by spermatogenesis defects. It results in decreased sperm motility, concentration, and multiple sperm structural defects. Non-obstructive azoospermia, oligozoospermia and oligo-astheno-teratozoospermia are features observed in SPGF12 patients." []
xref: MedGen:C3809427
xref: MedGen:CN180042
xref: MeSH:D007248
xref: MIM:615413 "phenotype"
[Term]
id: DI-03878
name: Myopia 22, autosomal dominant
def: "A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far." []
xref: MedGen:C3809464
xref: MedGen:CN180085
xref: MeSH:D009216
xref: MIM:615420 "phenotype"
[Term]
id: DI-03879
name: Multiple congenital anomalies-hypotonia-seizures syndrome 3
def: "An autosomal recessive syndrome characterized by distinct facial features, intellectual disability, hypotonia and seizures, in combination with abnormal skeletal, endocrine, and ophthalmologic findings including impaired vision, as well as abnormal motility of the eyes." []
synonym: "Glycosylphosphatidylinositol biosynthesis defect 7" [UniProt]
synonym: "GPIBD7" [UniProt]
synonym: "M syndrome" [UniProt]
xref: MedGen:C3809356
xref: MedGen:CN179948
xref: MeSH:D000015
xref: MIM:615398 "phenotype"
[Term]
id: DI-03880
name: Dyschromatosis universalis hereditaria 3
def: "An autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body, that appear in infancy or early childhood. The trunk and extremities are the dominant sites of abnormal pigmentation. Facial lesions can be seen in 50% of affected individuals, but involvement of palms and soles is unusual. Abnormalities of hair and nails have also been reported. Dyschromatosis universalis hereditaria may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications." []
synonym: "DSH" [UniProt]
synonym: "Dyschromatosis symmetrica hereditaria" [UniProt]
synonym: "Reticulate acropigmentation of Dohi" [UniProt]
synonym: "Symmetric dyschromatosis of the extremities" [UniProt]
xref: MedGen:C3809394
xref: MedGen:CN179951
xref: MeSH:D010859
xref: MIM:615402 "phenotype"
[Term]
id: DI-03881
name: Amyotrophic lateral sclerosis 20
def: "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases." []
xref: MedGen:C3715156
xref: MedGen:CN180156
xref: MeSH:D000690
xref: MIM:615426 "phenotype"
[Term]
id: DI-03882
name: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
def: "An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance." []
synonym: "MSP3" [UniProt]
synonym: "Multisystem proteinopathy 3" [UniProt]
xref: MedGen:C3809469
xref: MedGen:CN180155
xref: MeSH:D010001
xref: MeSH:D018979
xref: MeSH:D049288
xref: MeSH:D057180
xref: MIM:615424 "phenotype"
[Term]
id: DI-03883
name: Cortical dysplasia, complex, with other brain malformations 2
def: "A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include intrauterine growth retardation, fetal akinesia, seizures, microcephaly, lack of psychomotor development, and arthrogryposis. Brain imaging shows malformations of cortical development, including polymicrogyria, gyral simplification, and thin corpus callosum." []
xref: MedGen:C3809013
xref: MedGen:CN180044
xref: MeSH:D054081
xref: MIM:615282 "phenotype"
[Term]
id: DI-03884
name: Cortical dysplasia, complex, with other brain malformations 3
def: "A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include early-onset epilepsy, and various malformations of cortical development such as agyria, posterior or frontal pachygyria, subcortical band heterotopia, and thin corpus callosum." []
xref: MedGen:C3809414
xref: MedGen:CN180045
xref: MeSH:D054081
xref: MIM:615411 "phenotype"
[Term]
id: DI-03885
name: Cortical dysplasia, complex, with other brain malformations 4
def: "A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include early-onset seizures, microcephaly, spastic tetraplegia, and various malformations of cortical development, such as agyria, posterior or frontal pachygyria, thick cortex, and subcortical band heterotopia and thin corpus callosum in some patients." []
xref: MedGen:C3809420
xref: MedGen:CN180046
xref: MeSH:D054081
xref: MIM:615412 "phenotype"
[Term]
id: DI-03886
name: Left ventricular non-compaction 9
def: "A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC9 is an autosomal dominant condition." []
synonym: "Left ventricular noncompaction 9" [UniProt]
xref: MedGen:C3808145
xref: MedGen:CN179850
xref: MeSH:D056830
xref: MIM:611878 "phenotype"
[Term]
id: DI-03887
name: Retinitis pigmentosa 82 with or without situs inversus
def: "An autosomal recessive disorder characterized by variable association of retinitis pigmentosa with situs inversus. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Situs inversus is a congenital abnormality in which organs in the thorax and the abdomen are opposite to their normal positions due to lateral transposition." []
xref: MedGen:C3809503
xref: MedGen:CN180162
xref: MeSH:D012174
xref: MeSH:D012857
xref: MIM:615434 "phenotype"
[Term]
id: DI-03888
name: Deafness, autosomal recessive, 88
def: "A form of non-syndromic deafness characterized by prelingual onset of severe to profound mixed conductive and sensorineural hearing loss." []
xref: MedGen:CN180160
xref: MeSH:D046089
xref: MIM:615429 "phenotype"
[Term]
id: DI-03889
name: Dyskeratosis congenita, autosomal dominant, 4
def: "A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy." []
xref: MedGen:C3808802
xref: MeSH:D019871
xref: MIM:615190 "phenotype"
[Term]
id: DI-03890
name: Microcephaly 11, primary, autosomal recessive
def: "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small." []
xref: MedGen:C3809431
xref: MedGen:CN180048
xref: MeSH:D008831
xref: MIM:615414 "phenotype"
[Term]
id: DI-03891
name: Renal-hepatic-pancreatic dysplasia 2
def: "A form of renal-hepatic-pancreatic dysplasia, a disease characterized by cystic malformations of the kidneys, liver, and pancreas. The pathological findings consist of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, a dysplastic pancreas with dilated ducts, cysts, fibrosis and inflammatory infiltrates." []
xref: MedGen:C3809434
xref: MedGen:CN180049
xref: MeSH:D000015
xref: MIM:615415 "phenotype"
[Term]
id: DI-03892
name: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
def: "An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance." []
synonym: "MSP2" [UniProt]
synonym: "Multisystem proteinopathy 2" [UniProt]
xref: MedGen:C3809468
xref: MedGen:CN180154
xref: MeSH:D010001
xref: MeSH:D018979
xref: MeSH:D049288
xref: MeSH:D057180
xref: MIM:615422 "phenotype"
[Term]
id: DI-03893
name: Myopia 23, autosomal recessive
def: "A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far." []
xref: MedGen:C3809482
xref: MedGen:CN180161
xref: MeSH:D009216
xref: MIM:615431 "phenotype"
[Term]
id: DI-03894
name: Aortic aneurysm, familial thoracic 8
def: "A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance." []
xref: MedGen:C3809513
xref: MedGen:CN180164
xref: MeSH:D017545
xref: MIM:615436 "phenotype"
[Term]
id: DI-03895
name: Infantile liver failure syndrome 1
def: "A life-threatening disorder of hepatic function that manifests with acute liver failure in the first few months of life. Clinical features include anemia, renal tubulopathy, developmental delay, seizures, failure to thrive, and liver steatosis and fibrosis." []
xref: MedGen:C3809522
xref: MeSH:D017093
xref: MIM:615438 "phenotype"
[Term]
id: DI-03896
name: Right atrial isomerism
def: "A severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs." []
synonym: "Asplenia with cardiovascular anomalies" [UniProt]
synonym: "Heterotaxy, visceroatrial, autosomal recessive" [UniProt]
synonym: "Ivemark syndrome" [UniProt]
synonym: "Polyasplenia" [UniProt]
synonym: "VAH, autosomal recessive" [UniProt]
xref: MedGen:C0175707
xref: MedGen:C0265357
xref: MedGen:C1876171
xref: MedGen:C1876172
xref: MedGen:C1876173
xref: MeSH:D059446
xref: MIM:208530 "phenotype"
[Term]
id: DI-03897
name: Craniometaphyseal dysplasia, autosomal recessive
def: "An osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy." []
xref: MedGen:C2931244
xref: MeSH:D010009
xref: MeSH:D019465
xref: MIM:218400 "phenotype"
[Term]
id: DI-03898
name: Winchester syndrome
def: "A disease characterized by severe osteolysis in the hands and feet, generalized osteoporosis, bone thinning, and absence of subcutaneous nodules. Various additional features include coarse face, corneal opacities, gum hypertrophy, and EKG changes." []
xref: MedGen:C0432289
xref: MeSH:D010014
xref: MeSH:D010024
xref: MIM:277950 "phenotype"
[Term]
id: DI-03899
name: Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
def: "A disease characterized by chondrodysplasia, severe platyspondyly, hydrocephaly, and facial features with microphthalmia. Bone abnormalities include a distinctive metaphyseal cupping of the metacarpals, metatarsals, and phalanges. Affected females show a milder phenotype with small stature, sometimes associated with body asymmetry and mild intellectual disability." []
xref: MedGen:C3275476
xref: MeSH:D010009
xref: MIM:300863 "phenotype"
[Term]
id: DI-03900
name: Keratoderma, palmoplantar, Bothnian type
def: "A dermatological disorder characterized by diffuse non-epidermolytic hyperkeratosis of the skin of palms and soles. PPKB is frequently complicated by fungal infections." []
xref: MedGen:C1838359
xref: MeSH:D053546
xref: MIM:600231 "phenotype"
[Term]
id: DI-03901
name: Beaulieu-Boycott-Innes syndrome
def: "An autosomal recessive neurodevelopmental disorder characterized by delayed development, moderate intellectual disability, and dysmorphic facial features. Other developmental anomalies, such as cardiac and renal defects, may also occur." []
xref: MedGen:C3150939
xref: MeSH:D000015
xref: MIM:613680 "phenotype"
[Term]
id: DI-03902
name: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
def: "A neurodegenerative disease characterized by variable degrees of hypotonia, speech impairment, intellectual disability, pyramidal signs, subtle facial dysmorphism, and chronic constipation. Some patients manifest neuroaxonal dystrophy, optic atrophy, unmyelinated axons and spheroid bodies in tissue biopsies." []
synonym: "IHPRF" [UniProt]
synonym: "Infantile neuroaxonal neurodegeneration with facial dysmophism" [UniProt]
synonym: "INNFD" [UniProt]
xref: MedGen:C3809454
xref: MedGen:CN180084
xref: MeSH:D020271
xref: MIM:615419 "phenotype"
[Term]
id: DI-03903
name: Ciliary dyskinesia, primary, 23
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome." []
synonym: "Primary ciliary dyskinesia 23 with or without situs inversus" [UniProt]
xref: MedGen:C3809548
xref: MedGen:CN180185
xref: MeSH:D007619
xref: MIM:615451 "phenotype"
[Term]
id: DI-03904
name: Ciliary dyskinesia, primary, 22
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome." []
synonym: "Primary ciliary dyskinesia 22 with or without situs inversus" [UniProt]
xref: MedGen:C3809543
xref: MedGen:CN180179
xref: MeSH:D007619
xref: MIM:615444 "phenotype"
[Term]
id: DI-03905
name: Mitochondrial complex III deficiency, nuclear type 6
def: "An autosomal recessive disorder caused by mitochondrial dysfunction. It is characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection. Laboratory studies show decreased activity of mitochondrial complex III. Psychomotor development is normal." []
xref: MedGen:C3809553
xref: MedGen:CN180180
xref: MeSH:D028361
xref: MIM:615453 "phenotype"
[Term]
id: DI-03906
name: Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
def: "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. EBS3 is an autosomal recessive disorder characterized by skin blistering mainly occurring on the feet and ankles. Ultrastructural analysis of skin biopsy shows abnormal hemidesmosomes with poorly formed inner plaques." []
synonym: "EBSB2" [UniProt]
synonym: "Epidermolysis bullosa simplex, autosomal recessive 2" [UniProt]
xref: MedGen:C3809470
xref: MedGen:CN180173
xref: MeSH:D016110
xref: MIM:615425 "phenotype"
[Term]
id: DI-03907
name: Microcornea, myopic chorioretinal atrophy, and telecanthus
def: "A ocular syndrome characterized by microcornea and myopic chorioretinal atrophy. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. In addition to ocular findings, some patients have telecanthus and posteriorly rotated ears." []
xref: MedGen:C3809567
xref: MedGen:CN180182
xref: MeSH:D005128
xref: MeSH:D019465
xref: MIM:615458 "phenotype"
[Term]
id: DI-03908
name: Primary aldosteronism, seizures, and neurologic abnormalities
def: "A disorder characterized by hypertension, hypokalemia, and high aldosterone levels with low plasma renin activity and an elevated aldosterone/renin ratio. Other features include generalized seizures, cerebral palsy, spasticity, intellectual disability, and developmental delay." []
xref: MedGen:C3809609
xref: MedGen:CN180191
xref: MeSH:D006929
xref: MeSH:D012640
xref: MIM:615474 "phenotype"
[Term]
id: DI-03909
name: Hartsfield syndrome
def: "A syndrome characterized by the triad of holoprosencephaly, ectrodactyly, and cleft/lip palate. Profound intellectual disability is also present. Multiple other congenital anomalies usually occur." []
synonym: "Holoprosencephaly, ectrodactyly and bilateral cleft lip/palate" [UniProt]
xref: MedGen:C1845146
xref: MeSH:D002971
xref: MeSH:D002972
xref: MeSH:D006228
xref: MeSH:D008607
xref: MeSH:D016142
xref: MIM:615465 "phenotype"
[Term]
id: DI-03910
name: Specific language impairment 5
def: "A disorder characterized by a delay in early speech acquisition. It is usually associated with cerebral white matter abnormalities on brain MRI. Some individuals may show disorders in communication, consistent with autism spectrum disorder, or global developmental delay, although others ultimately show normal cognitive function. Penetrance is incomplete and expressivity is variable." []
xref: MedGen:C3809483
xref: MedGen:CN180183
xref: MeSH:D007805
xref: MIM:615432 "phenotype"
[Term]
id: DI-03911
name: Immunodeficiency 12
def: "A primary immunodeficiency characterized by onset in infancy of recurrent bacterial and candidal infections resulting in bronchiectasis and growth delay. Manifestations include mastoiditis, aphthous ulcers, cheilitis, gingivitis, esophagitis, gastritis, duodenitis, and meningitis. Levels of absolute lymphocytes and serum immunoglobulins are normal, but specific antibody titers are low despite immunization, and T-cells show impaired proliferative responses to mitogens." []
xref: MedGen:C3809583
xref: MedGen:CN180192
xref: MeSH:D007153
xref: MIM:615468 "phenotype"
[Term]
id: DI-03912
name: Cardiac arrhythmia syndrome, with or without skeletal muscle weakness
def: "An autosomal recessive cardiac disorder characterized by stress- induced arrhythmias in infancy or early childhood. Patients present with recurrent syncope or cardiac arrest after physical activity or emotional stress. Sudden death may occur in early childhood. Some patients have muscle weakness." []
synonym: "CPVT5" [UniProt]
synonym: "Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness" [UniProt]
xref: MedGen:C3809536
xref: MedGen:CN180177
xref: MeSH:D017180
xref: MIM:615441 "phenotype"
[Term]
id: DI-03913
name: Combined oxidative phosphorylation deficiency 17
def: "An autosomal recessive disorder of mitochondrial dysfunction characterized by onset of severe hypertrophic cardiomyopathy in the first year of life. Other features include hypotonia, poor growth, lactic acidosis, and failure to thrive. The disorder may be fatal in early childhood." []
xref: MedGen:C3809526
xref: MedGen:CN180184
xref: MeSH:D028361
xref: MIM:615440 "phenotype"
[Term]
id: DI-03914
name: Macular degeneration, age-related, 13
def: "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane." []
xref: MedGen:C3809523
xref: MedGen:CN180174
xref: MeSH:D008268
xref: MIM:615439 "phenotype"
[Term]
id: DI-03915
name: Mitochondrial DNA depletion syndrome 13
def: "An autosomal recessive disorder characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. Cells derived from patient tissues show defects in mitochondrial oxidative phosphorylation and decreased mtDNA content." []
synonym: "Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)" [UniProt]
xref: MedGen:C3809592
xref: MedGen:CN180190
xref: MeSH:D017237
xref: MIM:615471 "phenotype"
[Term]
id: DI-03916
name: Ciliary dyskinesia, primary, 24
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Situs inversus is not observed in CILD24 patients." []
xref: MedGen:C3809634
xref: MedGen:CN180199
xref: MeSH:D002925
xref: MIM:615481 "phenotype"
[Term]
id: DI-03917
name: Ciliary dyskinesia, primary, 25
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome." []
synonym: "Primary ciliary dyskinesia 25 with or without situs inversus" [UniProt]
xref: MedGen:C3809641
xref: MedGen:CN180234
xref: MeSH:D007619
xref: MIM:615482 "phenotype"
[Term]
id: DI-03918
name: Developmental and epileptic encephalopathy 18
def: "A severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging." []
synonym: "EIEE18" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 18" [UniProt]
xref: MedGen:C3809624
xref: MedGen:CN180198
xref: MeSH:D013036
xref: MIM:615476 "phenotype"
[Term]
id: DI-03919
name: Macular degeneration, age-related, 14
def: "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane." []
xref: MedGen:C3809653
xref: MedGen:CN180565
xref: MeSH:D008268
xref: MIM:615489 "phenotype"
[Term]
id: DI-03920
name: Bainbridge-Ropers syndrome
def: "A syndrome characterized by psychomotor retardation, feeding problems, severe postnatal growth retardation in some patients, arched eyebrows, anteverted nares, and ulnar deviation of the hands." []
xref: MedGen:C3809650
xref: MedGen:CN180235
xref: MeSH:D000015
xref: MIM:615485 "phenotype"
[Term]
id: DI-03921
name: Interstitial lung and liver disease
def: "An autosomal recessive, life-threatening disorder characterized by respiratory insufficiency and progressive liver disease with onset in infancy or early childhood. Clinical features include failure to thrive, hypotonia, intermittent lactic acidosis, aminoaciduria, hypothyroidism, interstitial lung disease, pulmonary alveolar proteinosis, anemia, and liver canalicular cholestasis, steatosis, and iron deposition." []
synonym: "ILFS2" [UniProt]
synonym: "Infantile liver failure syndrome 2" [UniProt]
synonym: "Pulmonary alveolar proteinosis, Reunion island" [UniProt]
xref: MedGen:C3809651
xref: MedGen:CN180563
xref: MeSH:D017093
xref: MIM:615486 "phenotype"
[Term]
id: DI-03922
name: Developmental and epileptic encephalopathy 17
def: "A severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life and usually associated with EEG abnormalities. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements." []
synonym: "EIEE17" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 17" [UniProt]
xref: MedGen:C3809606
xref: MedGen:CN180194
xref: MeSH:D013036
xref: MIM:615473 "phenotype"
[Term]
id: DI-03923
name: Basal ganglia calcification, idiopathic, 5
def: "A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas." []
xref: MedGen:C3809645
xref: MedGen:CN185289
xref: MeSH:D001480
xref: MeSH:D002114
xref: MIM:615483 "phenotype"
[Term]
id: DI-03924
name: Charcot-Marie-Tooth disease, axonal, 2R
def: "An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy." []
synonym: "Autosomal recessive Charcot-Marie-Tooth disease axonal type 2R" [UniProt]
synonym: "Charcot-Marie-Tooth disease axonal type 2R" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy axonal type 2R" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy, type 2R" [UniProt]
xref: MedGen:C3809655
xref: MedGen:CN180570
xref: MeSH:D002607
xref: MIM:615490 "phenotype"
[Term]
id: DI-03925
name: Spastic paraplegia 79B, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG79B is characterized by childhood onset blindness, cerebellar ataxia, nystagmus, dorsal column dysfunction, and spasticity with upper motor neuron dysfunction." []
synonym: "NDGOA" [UniProt]
synonym: "Neurodegeneration with optic atrophy, childhood-onset" [UniProt]
xref: MedGen:C3809665
xref: MeSH:D015418
xref: MIM:615491 "phenotype"
[Term]
id: DI-03926
name: Short-rib thoracic dysplasia 8 with or without polydactyly
def: "A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome." []
synonym: "Short rib-polydactyly syndrome type VI" [UniProt]
synonym: "SRPS type VI" [UniProt]
synonym: "SRPS6" [UniProt]
xref: MedGen:C3809691
xref: MedGen:CN180645
xref: MeSH:D012779
xref: MIM:615503 "phenotype"
[Term]
id: DI-03927
name: Intellectual developmental disorder, autosomal dominant 21
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Additional MRD21 features include short stature, microcephaly, and developmental delay." []
xref: MedGen:C3809686
xref: MedGen:CN180640
xref: MeSH:D008607
xref: MIM:615502 "phenotype"
[Term]
id: DI-03929
name: Rhabdomyosarcoma, embryonal, 2
def: "A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas." []
xref: MedGen:C1867234
xref: MeSH:D018233
xref: MIM:180295 "phenotype"
[Term]
id: DI-03930
name: Deafness, dystonia, and cerebral hypomyelination
def: "An X-linked recessive syndrome characterized by sensorineural deafness, intellectual disability, dysmorphic facial features, dystonia, pyramidal signs, almost no psychomotor development, and hypomyelination on brain imaging." []
xref: MedGen:C1845408
xref: MeSH:D004421
xref: MeSH:D006319
xref: MeSH:D008607
xref: MIM:300475 "phenotype"
[Term]
id: DI-03931
name: Metacarpal 4-5 fusion
def: "A rare congenital malformation of the hand characterized by the partial or complete fusion of the fourth and fifth metacarpals. The anomaly occurs as an isolated trait or part of a syndrome." []
xref: MedGen:C1839728
xref: MeSH:D006228
xref: MIM:309630 "phenotype"
[Term]
id: DI-03932
name: Spinocerebellar ataxia 19
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA19 is a relatively mild, cerebellar ataxic syndrome with cognitive impairment, pyramidal tract involvement, tremor and peripheral neuropathy, and mild atrophy of the cerebellar hemispheres and vermis." []
synonym: "SCA22" [UniProt]
synonym: "Spinocerebellar ataxia 22" [UniProt]
xref: MedGen:C1846367
xref: MedGen:C2746067
xref: MeSH:D020754
xref: MIM:607346 "phenotype"
[Term]
id: DI-03933
name: Spinocerebellar ataxia 26
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord." []
xref: MedGen:C1836395
xref: MeSH:D020754
xref: MIM:609306 "phenotype"
[Term]
id: DI-03934
name: Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type
def: "An autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged red fibers, mtDNA depletion, and accumulation of abnormal mitochondria." []
synonym: "Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive" [UniProt]
synonym: "Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type, autosomal recessive" [UniProt]
xref: MedGen:C3809443
xref: MedGen:CN180172
xref: MeSH:D017240
xref: MIM:615418 "phenotype"
[Term]
id: DI-03935
name: Orofaciodigital syndrome 5
def: "A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD5 patients show the core features of cleft palate, lobulated tongue, and polydactyly. Additional features include frontal bossing and intellectual disability." []
synonym: "OFDS V" [UniProt]
synonym: "Oral-facial-digital syndrome 5" [UniProt]
synonym: "Oral-facial-digital syndrome, type V" [UniProt]
synonym: "Orofaciodigital syndrome Thurston type" [UniProt]
synonym: "Orofaciodigital syndrome V" [UniProt]
synonym: "Papillon-Leage and Psaume syndrome" [UniProt]
synonym: "Polydactyly, postaxial, with median cleft of upper lip" [UniProt]
synonym: "Thurston syndrome" [UniProt]
xref: MedGen:C1868118
xref: MeSH:D009958
xref: MIM:174300 "phenotype"
[Term]
id: DI-03936
name: Ciliary dyskinesia, primary, 26
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome." []
synonym: "Primary ciliary dyskinesia 26 with or without situs inversus" [UniProt]
xref: MedGen:C3809684
xref: MedGen:CN181205
xref: MeSH:D007619
xref: MIM:615500 "phenotype"
[Term]
id: DI-03937
name: Alacrima, achalasia, and impaired intellectual development syndrome
def: "An autosomal recessive disorder characterized by onset of alacrima, achalasia, and intellectual disability at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome, but patients with AAMR do not have adrenal insufficiency." []
xref: MedGen:C3809738
xref: MedGen:CN181208
xref: MeSH:D004931
xref: MeSH:D007766
xref: MeSH:D008607
xref: MIM:615510 "phenotype"
[Term]
id: DI-03938
name: Ciliary dyskinesia, primary, 27
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome." []
synonym: "Primary ciliary dyskinesia 27 with or without situs inversus" [UniProt]
xref: MedGen:C3809701
xref: MedGen:CN181206
xref: MeSH:D007619
xref: MIM:615504 "phenotype"
[Term]
id: DI-03939
name: Intellectual developmental disorder, autosomal recessive 38
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT38 is characterized by global developmental delay affecting motor, speech, adaptive, and social development. Patients manifest autistic features, aggression, self-injury, impulsivity, and distractibility." []
xref: MedGen:C3809753
xref: MedGen:CN181335
xref: MeSH:D008607
xref: MIM:615516 "phenotype"
[Term]
id: DI-03940
name: Amyotrophic lateral sclerosis 19
def: "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases." []
xref: MedGen:C3715155
xref: MedGen:CN181216
xref: MeSH:D000690
xref: MIM:615515 "phenotype"
[Term]
id: DI-03941
name: Immunodeficiency 13
def: "A rare and heterogeneous syndrome defined by a reproducible reduction in the CD4 T-lymphocyte count (less than 300 cells per microliter or less than 20% of total T-cells) in the absence of HIV infection or other known causes of immunodeficiency. IMD13 predisposes to infections and malignancy." []
synonym: "ICL" [UniProt]
synonym: "Idiopathic CD4 lymphopenia" [UniProt]
xref: MedGen:C3809768
xref: MedGen:CN181336
xref: MeSH:D007153
xref: MIM:615518 "phenotype"
[Term]
id: DI-03942
name: Hemochromatosis 5
def: "A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading." []
synonym: "Autosomal dominant iron overload" [UniProt]
synonym: "Hemochromatosis type 5" [UniProt]
xref: MedGen:CN181217
xref: MeSH:D006432
xref: MIM:615517 "phenotype"
[Term]
id: DI-03943
name: Intellectual developmental disorder, autosomal recessive 37
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT37 patients manifest delayed global development with speech delay, hypotonia, spasticity, and a sleep disorder. Severe behavioral abnormalities include aggression, hyperactivity, and grinding of the teeth." []
xref: MedGen:C3809672
xref: MedGen:CN181196
xref: MeSH:D008607
xref: MIM:615493 "phenotype"
[Term]
id: DI-03944
name: Ciliary dyskinesia, primary, 28
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome." []
synonym: "Primary ciliary dyskinesia 28 with or without situs inversus" [UniProt]
xref: MedGen:C3809706
xref: MedGen:CN181207
xref: MeSH:D007619
xref: MIM:615505 "phenotype"
[Term]
id: DI-03945
name: Phelan-McDermid syndrome
def: "A developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior, and minor dysmorphic features." []
synonym: "Chromosome 22q13.3 deletion syndrome" [UniProt]
synonym: "Telomeric 22q13 monosomy syndrome" [UniProt]
xref: MedGen:C1853490
xref: MedGen:C2931332
xref: MeSH:D002872
xref: MIM:606232 "phenotype"
[Term]
id: DI-03946
name: Cole disease
def: "A rare autosomal dominant genodermatosis characterized by punctate keratoderma associated with irregularly shaped hypopigmented macules, which are typically found over the arms and legs but not the trunk or acral regions. Skin biopsies of palmoplantar lesions show hyperorthokeratosis, hypergranulosis, and acanthosis. Hypopigmented areas of skin, however, reveal a reduction in melanin content in keratinocytes but not in melanocytes, as well as hyperkeratosis and a normal number of melanocytes. Ultrastructurally, melanocytes show a disproportionately large number of melanosomes in the cytoplasm and dendrites, whereas keratinocytes show a paucity of these organelles, suggestive of impaired melanosome transfer. Some patients also exhibit calcinosis cutis or calcific tendinopathy." []
xref: MedGen:C3809781
xref: MedGen:CN181445
xref: MeSH:D007645
xref: MeSH:D017496
xref: MIM:615522 "phenotype"
[Term]
id: DI-03947
name: Corneal dystrophy, Fuchs endothelial, 8
def: "A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition." []
xref: MedGen:C3809798
xref: MedGen:CN181446
xref: MeSH:D005642
xref: MIM:615523 "phenotype"
[Term]
id: DI-03948
name: Parkinsonism with spasticity, X-linked
def: "A syndrome characterized by parkinsonian features, such as cogwheel rigidity, resting tremor and bradykinesia, and variably penetrant spasticity." []
xref: MedGen:C3806722
xref: MedGen:CN181443
xref: MeSH:D019636
xref: MeSH:D020734
xref: MIM:300911 "phenotype"
[Term]
id: DI-03949
name: Intellectual developmental disorder, X-linked 98
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. XLID98 patients show delayed psychomotor development, absent or poor speech development, and postnatal growth retardation, often with microcephaly. Some patients show autistic behavioral features, such as stereotypic hand movements and repetitive behaviors. Additional, more variable features include spasticity, axial hypotonia, seizures, drooling, gastroesophageal reflux, and lack of sphincter control." []
synonym: "MRX98" [UniProt]
xref: MedGen:C3806730
xref: MedGen:CN181444
xref: MeSH:D038901
xref: MIM:300912 "phenotype"
[Term]
id: DI-03950
name: Candidiasis, familial, 8
def: "A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans." []
synonym: "Candidiasis familial chronic mucocutaneous autosomal recessive" [UniProt]
xref: MedGen:C3714992
xref: MedGen:CN181495
xref: MeSH:D002178
xref: MIM:615527 "phenotype"
[Term]
id: DI-03951
name: Microphthalmia, syndromic, 12
def: "A form of microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS12 patients manifest variable features, including diaphragmatic hernia, pulmonary hypoplasia, and cardiac abnormalities." []
synonym: "Microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects" [UniProt]
xref: MedGen:C3809803
xref: MedGen:CN181448
xref: MeSH:D008850
xref: MIM:615524 "phenotype"
[Term]
id: DI-03952
name: Microphthalmia/Coloboma 8
def: "A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure)." []
synonym: "Microphthalmia, isolated, with coloboma, 8" [UniProt]
xref: MedGen:C3540845
xref: MedGen:CN160496
xref: MeSH:D003103
xref: MeSH:D008850
xref: MIM:601186 "phenotype"
[Term]
id: DI-03953
name: Craniosynostosis 5
def: "A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability." []
xref: MedGen:C3809819
xref: MedGen:CN181759
xref: MeSH:D003398
xref: MIM:615529 "phenotype"
[Term]
id: DI-03954
name: Split-hand/foot malformation with long bone deficiency 3
def: "A disease characterized by the association of split-hand/foot malformation with long bone deficiency involving the tibia and fibula. Split-hand/foot malformation is a limb malformation involving the central rays of the autopod. Phenotypic expression is extremely variable between and within families, and even between limbs of a single patient, ranging from syndactyly and oligodactyly to the most severe monodactyly with only a single phalanx. Limb features include median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals." []
synonym: "Chromosome 17p13.3, telomeric, duplication syndrome" [UniProt]
xref: MedGen:C2675492
xref: MeSH:D017880
xref: MIM:612576 "phenotype"
[Term]
id: DI-03955
name: Angioedema induced by ACE inhibitors
def: "A potentially life-threatening side effect of ACE inhibitors that appears in a subset of patients taking these drugs for hypertension and cardiovascular disease treatment. AEACEI is characterized by swelling of the face, lips, tongue, and airway that can lead to suffocation and death if severe." []
synonym: "AE-ACEI" [UniProt]
xref: MedGen:CN069588
xref: MeSH:D000799
xref: MeSH:D064420
xref: MIM:300909 "phenotype"
[Term]
id: DI-03956
name: Testicular anomalies with or without congenital heart disease
def: "A 46,XY disorder of sex development with variable clinical presentation and defects in testicular differentiation and function. Clinical features include ambiguous genitalia, fused labioscrotal folds, hypospadias, microphallus, and bilateral inguinal hernia containing gonads." []
xref: MedGen:C3809858
xref: MedGen:CN181765
xref: MeSH:D058490
xref: MIM:615542 "phenotype"
[Term]
id: DI-03957
name: Deafness, autosomal recessive, 76
def: "A form of non-syndromic sensorineural deafness, a disorder resulting from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB76 affected individuals have onset of progressive high frequency hearing impairment between birth and 6 years of age. The hearing loss is severe at high frequencies by adulthood." []
xref: MedGen:CN181763
xref: MeSH:D006316
xref: MeSH:D006319
xref: MIM:615540 "phenotype"
[Term]
id: DI-03958
name: Periventricular nodular heterotopia 6
def: "A form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH6 results in delayed psychomotor development, delayed speech, strabismus, and onset of seizures with hypsarrhythmia in early infancy." []
xref: MedGen:C3809872
xref: MedGen:CN181758
xref: MeSH:D054091
xref: MIM:615544 "phenotype"
[Term]
id: DI-03959
name: Leukemia, acute lymphoblastic, 3
def: "A subtype of acute leukemia, a cancer of the white blood cells. Acute lymphoblastic anemia is a malignant disease of bone marrow and the most common malignancy diagnosed in children. The malignant cells are lymphoid precursor cells (lymphoblasts) that are arrested in an early stage of development. The lymphoblasts replace the normal marrow elements, resulting in a marked decrease in the production of normal blood cells. Consequently, anemia, thrombocytopenia, and neutropenia occur to varying degrees. The lymphoblasts also proliferate in organs other than the marrow, particularly the liver, spleen, and lymphnodes." []
xref: MedGen:C3809874
xref: MeSH:D054198
xref: MIM:613065 "phenotype"
[Term]
id: DI-03960
name: Ehlers-Danlos syndrome, musculocontractural type 2
def: "A form of Ehlers-Danlos syndrome characterized by progressive multisystem manifestations, including joint dislocations and deformities, skin hyperextensibility, skin bruisability and fragility with recurrent large subcutaneous hematomas, cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications. Motor developmental delay is associated with muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood." []
xref: MedGen:C3809845
xref: MedGen:CN181762
xref: MeSH:D004535
xref: MIM:615539 "phenotype"
[Term]
id: DI-03961
name: Parkinson disease 19A, juvenile-onset
def: "A juvenile form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK19A is characterized by onset of parkinsonian symptoms in the first or second decade of life. Some patients may have additional neurologic features, including intellectual disability and seizures." []
synonym: "PARK19" [UniProt]
xref: MedGen:C3809811
xref: MedGen:CN181757
xref: MeSH:D010300
xref: MIM:615528 "phenotype"
[Term]
id: DI-03962
name: Reticulate acropigmentation of Kitamura
def: "A rare cutaneous pigmentation disorder characterized by reticulate, slightly depressed, sharply demarcated brown macules without hypopigmentation, affecting the dorsa of the hands and feet and appearing in the first or second decade of life. The macules gradually darken and extend to the proximal regions of the extremities. The manifestations tend to progress until middle age, after which progression of the eruptions stops. The pigmentary augmentation is found on the flexor aspects of the wrists, neck, patella and olecranon. Other features include breaks in the epidermal ridges on the palms and fingers, palmoplantar pits, occasionally plantar keratoderma, and partial alopecia." []
synonym: "Acropigmentatio reticularis" [UniProt]
synonym: "Kitamura reticulate acropigmentation" [UniProt]
synonym: "Reticulate pigmentation of Kitamura" [UniProt]
synonym: "RPK" [UniProt]
xref: MeSH:D010859
xref: MIM:615537 "phenotype"
[Term]
id: DI-03963
name: Intellectual developmental disorder, autosomal recessive 39
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT39 affected individuals show delayed psychomotor development, severe speech delay, short stature, kyphoscoliosis, and dysmorphic facial features. Behavioral abnormalities include hyperactivity, aggression, and stereotypic movements." []
xref: MedGen:C3809853
xref: MedGen:CN181764
xref: MeSH:D008607
xref: MIM:615541 "phenotype"
[Term]
id: DI-03964
name: Parkinson disease 20, early-onset
def: "An early-onset form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK20 is characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia." []
xref: MedGen:C3809824
xref: MedGen:CN181760
xref: MeSH:D020734
xref: MIM:615530 "phenotype"
[Term]
id: DI-03965
name: Microtia with or without hearing impairment
def: "Microtia is a congenital deformity of the outer ear that is small and abnormally shaped. In classic microtia, the pinna is essentially absent, except for a vertical sausage-shaped skin remnant. The superior aspect of this sausage-shaped skin remnant consists of underlying unorganized cartilage, and the inferior aspect of this remnant consists of a relatively well-formed lobule." []
xref: MeSH:D000013
xref: MIM:612290 "phenotype"
[Term]
id: DI-03966
name: Deafness, autosomal dominant, 41
def: "A form of non-syndromic deafness characterized by onset of progressive sensorineural hearing loss usually in the second decade. The hearing loss is severe and ultimately affects all frequencies. Exposure to noise exacerbates the hearing loss, particularly at high frequencies." []
xref: MedGen:C1842371
xref: MeSH:D003638
xref: MIM:608224 "phenotype"
[Term]
id: DI-03967
name: Telangiectasia, hereditary hemorrhagic, 5
def: "A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain." []
xref: MedGen:C3809710
xref: MedGen:CN181197
xref: MeSH:D013683
xref: MIM:615506 "phenotype"
[Term]
id: DI-03968
name: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE
def: "A syndrome characterized by severe dermatitis, multiple allergies and metabolic wasting. Clinical features include erythroderma, yellowish papules and plaques arranged at the periphery of the palms, along the fingers and over weight-bearing areas of the feet, skin erosions and scaling, and hypotrichosis. Additionally, patients manifest severe food allergies, elevated immunoglobulin E (IgE) levels and recurrent infections with marked metabolic wasting." []
synonym: "SAM syndrome" [UniProt]
synonym: "Severe dermatitis, multiple allergies, and metabolic wasting syndrome" [UniProt]
xref: MedGen:C3809719
xref: MedGen:CN181198
xref: MeSH:D003873
xref: MeSH:D007039
xref: MeSH:D007645
xref: MIM:615508 "phenotype"
[Term]
id: DI-03969
name: Deafness and myopia
def: "An autosomal recessive disorder characterized by prelingual sensorineural hearing loss associated with high myopia." []
xref: MedGen:C1857342
xref: MeSH:D006319
xref: MIM:221200 "phenotype"
[Term]
id: DI-03970
name: Intellectual developmental disorder, autosomal dominant 22
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Additional MRD22 patients have limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low- set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures." []
xref: MedGen:C2676727
xref: MeSH:D008607
xref: MIM:612337 "phenotype"
[Term]
id: DI-03971
name: Spastic paraplegia 43, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SP43 is characterized by childhood onset of progressive spasticity affecting the lower and upper limbs." []
xref: MedGen:CN164738
xref: MeSH:D015419
xref: MIM:615043 "phenotype"
[Term]
id: DI-03972
name: Diamond-Blackfan anemia 12
def: "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies." []
xref: MedGen:C3809888
xref: MedGen:CN182206
xref: MeSH:D029503
xref: MIM:615550 "phenotype"
[Term]
id: DI-03973
name: Episodic pain syndrome, familial, 2
def: "An autosomal dominant neurologic disorder characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities." []
xref: MedGen:C3809893
xref: MedGen:CN182246
xref: MeSH:D010146
xref: MIM:615551 "phenotype"
[Term]
id: DI-03974
name: Congenital myopathy 13
def: "An autosomal recessive disease characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia provoked by anesthesia." []
synonym: "Congenital myopathy with cleft palate and malignant hyperthermia" [UniProt]
synonym: "Myopathy, congenital, Bailey-Bloch" [UniProt]
synonym: "MYPBB" [UniProt]
synonym: "NAM" [UniProt]
synonym: "Native American myopathy" [UniProt]
xref: MedGen:C1850625
xref: MeSH:D002972
xref: MeSH:D008305
xref: MeSH:D009135
xref: MIM:255995 "phenotype"
[Term]
id: DI-03975
name: Hyperprolactinemia
def: "A disorder characterized by increased levels of prolactin in the blood not associated with gestation or the puerperium. HPRL may result in infertility, hypogonadism, and galactorrhea." []
xref: MedGen:C0020514
xref: MeSH:D006966
xref: MIM:615555 "phenotype"
[Term]
id: DI-03976
name: Autoimmune lymphoproliferative syndrome 3
def: "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. CVID9 patients have B-cell deficiency and severe autoimmunity." []
synonym: "Autoimmune lymphoproliferative syndrome, type III" [UniProt]
synonym: "CVID9" [UniProt]
synonym: "Immunodeficiency, common variable, 9" [UniProt]
xref: MedGen:CN182401
xref: MeSH:D017074
xref: MIM:615559 "phenotype"
[Term]
id: DI-03977
name: Arthrogryposis, impaired intellectual development, and seizures
def: "A disease characterized by arthrogryposis, intellectual disability, autism spectrum disorder, and epilepsy. Additional features include limb malformations, distal joint involvement, microcephaly, retromicrognathia, and general muscle hypotonia." []
xref: MedGen:C3809910
xref: MedGen:CN182249
xref: MeSH:D001176
xref: MeSH:D008607
xref: MeSH:D012640
xref: MIM:615553 "phenotype"
[Term]
id: DI-03978
name: Episodic pain syndrome, familial, 3
def: "An autosomal dominant neurologic disorder characterized by paroxysmal pain mainly affecting the distal lower extremities and occasionally the upper body, especially the joints of fingers and arms. The pain is exacerbated with fatigue." []
xref: MedGen:C3809899
xref: MedGen:CN182247
xref: MeSH:D010146
xref: MIM:615552 "phenotype"
[Term]
id: DI-03979
name: Immunodeficiency, common variable, 10
def: "A primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B-cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency." []
synonym: "Common variable immunodeficiency with central adrenal insufficiency" [UniProt]
synonym: "DAVID" [UniProt]
synonym: "Deficit in anterior pituitary function and variable immunodeficiency" [UniProt]
xref: MedGen:C3809991
xref: MedGen:CN185293
xref: MeSH:D017074
xref: MIM:615577 "phenotype"
[Term]
id: DI-03980
name: Nephrotic syndrome 9
def: "A form of nephrotic syndrome, a renal disease clinically characterized by progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show focal segmental glomerulosclerosis." []
xref: MedGen:C3809965
xref: MedGen:CN185292
xref: MeSH:D009404
xref: MIM:615573 "phenotype"
[Term]
id: DI-03981
name: Multiple fibroadenomas of the breast
def: "A benign breast disease marked by lobuloalveolar growth with abnormally high proliferation of the epithelium, and characterized by the presence of more than 3 fibroadenomas in one breast. Fibroadenomas are adenomas containing fibrous tissue." []
xref: MedGen:C3809918
xref: MedGen:CN182243
xref: MeSH:D018226
xref: MIM:615554 "phenotype"
[Term]
id: DI-03982
name: Van Maldergem syndrome 1
def: "An autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia." []
synonym: "Cerebro-facio-articular syndrome" [UniProt]
synonym: "Cerebrofacioarticular syndrome" [UniProt]
xref: MedGen:C1832390
xref: MeSH:D000015
xref: MeSH:D008607
xref: MIM:601390 "phenotype"
[Term]
id: DI-03983
name: Van Maldergem syndrome 2
def: "An autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia." []
xref: MedGen:C3809875
xref: MedGen:CN182241
xref: MeSH:D000015
xref: MeSH:D008607
xref: MIM:615546 "phenotype"
[Term]
id: DI-03984
name: Schaaf-Yang syndrome
def: "A disease characterized by clinical features of Prader-Willi syndrome, including neonatal hypotonia with poor suck, feeding problems in infancy, obesity, developmental delay, short stature, and hypogonadism. Additionally, patients manifest autism spectrum disorder. Some patients have dysmorphic facial features." []
synonym: "Chitayat-Hall syndrome" [UniProt]
synonym: "Prader-Willi-like syndrome" [UniProt]
synonym: "PWLS" [UniProt]
xref: MedGen:C3809877
xref: MeSH:D000015
xref: MIM:615547 "phenotype"
[Term]
id: DI-03985
name: Asparagine synthetase deficiency
def: "An inborn error of asparagine biosynthesis that results in a severe neurologic disorder characterized by microcephaly, severely delayed psychomotor development, progressive encephalopathy, cortical atrophy, and seizure or hyperekplexic activity." []
synonym: "ASNS deficiency" [UniProt]
xref: MedGen:C3809971
xref: MedGen:CN185291
xref: MeSH:D000592
xref: MIM:615574 "phenotype"
[Term]
id: DI-03986
name: Otofaciocervical syndrome 2, with T-cell deficiency
def: "An autosomal recessive disorder characterized by facial dysmorphism, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability. Some patients also exhibit altered thymus development with T-cell immunodeficiency." []
synonym: "OFC2" [UniProt]
xref: MedGen:C3714942
xref: MedGen:CN182251
xref: MeSH:D000015
xref: MIM:615560 "phenotype"
[Term]
id: DI-03987
name: Neuronopathy, distal hereditary motor, autosomal dominant 6
def: "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs." []
synonym: "Autosomal dominant spinal muscular atrophy distal calf-predominant" [UniProt]
synonym: "dHMN IID" [UniProt]
synonym: "dHMN2D" [UniProt]
synonym: "Distal hereditary motor neuropathy type IID" [UniProt]
synonym: "HMN IID" [UniProt]
synonym: "HMN2D" [UniProt]
synonym: "Neuronopathy, distal hereditary motor, 2D" [UniProt]
xref: MedGen:C3888271
xref: MeSH:D009134
xref: MIM:615575 "phenotype"
[Term]
id: DI-03988
name: Neuropathy, hereditary sensory and autonomic, 7
def: "A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN7 is characterized by congenital inability to experience pain resulting in self-mutilations, slow-healing wounds, and multiple painless fractures. mild muscle weakness, delayed motor development, slightly reduced motor and sensory nerve conduction velocities, hyperhidrosis and gastrointestinal dysfunction." []
synonym: "Congenital insensitivity to pain with gastrointestinal dysfunction and hyperhidrosis" [UniProt]
synonym: "Hereditary sensory and autonomic neuropathy type VII" [UniProt]
synonym: "HSAN VII" [UniProt]
xref: MedGen:C3809882
xref: MedGen:CN182245
xref: MeSH:D009477
xref: MIM:615548 "phenotype"
[Term]
id: DI-03989
name: Klippel-Feil syndrome 2, autosomal recessive
def: "A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement." []
synonym: "Cervical vertebral fusion autosomal recessive" [UniProt]
synonym: "KFS autosomal recessive" [UniProt]
xref: MedGen:C1859209
xref: MeSH:D007714
xref: MIM:214300 "phenotype"
[Term]
id: DI-03990
name: Retinitis pigmentosa 67
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C3809954
xref: MedGen:CN182503
xref: MeSH:D012174
xref: MIM:615565 "phenotype"
[Term]
id: DI-03991
name: Loeys-Dietz syndrome 5
def: "A form of Loeys-Dietz syndrome, a syndrome with widespread systemic involvement characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. LDS5 additional variable features include mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity. LDS5 patients do not manifest remarkable aortic or arterial tortuosity, and there is no strong evidence for early aortic dissection." []
synonym: "Rienhoff syndrome" [UniProt]
synonym: "RNHF" [UniProt]
xref: MedGen:C3810012
xref: MeSH:D055947
xref: MIM:615582 "phenotype"
[Term]
id: DI-03992
name: Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
def: "A syndrome characterized by sensorineural deafness, intellectual disability, hypoplastic or absent nails, small or absent distal phalanges of hands and feet. Additional features include coarse facies, a large nose with wide nasal bridge, bulbous tip and anteverted nares, a long prominent philtrum and downturned corners of the mouth. Progressive neurological manifestations include seizures from infancy, optic atrophy, and peripheral polyneuropathy." []
synonym: "Brachydactyly due to absence of distal phalanges" [UniProt]
synonym: "Digitorenocerebral syndrome" [UniProt]
synonym: "DOOR syndrome" [UniProt]
synonym: "DRC syndrome" [UniProt]
synonym: "Eronen syndrome" [UniProt]
xref: MedGen:C0795934
xref: MedGen:C1857345
xref: MeSH:D006319
xref: MeSH:D008607
xref: MeSH:D009260
xref: MeSH:D012640
xref: MeSH:D017880
xref: MeSH:D019465
xref: MIM:220500 "phenotype"
[Term]
id: DI-03993
name: Macrocephaly/megalencephaly syndrome, autosomal recessive
def: "An autosomal recessive disorder characterized by abnormal enlargement of the cerebral hemispheres, intellectual disability, large head, optic atrophy and underdeveloped skeletal musculature. Head enlargement may be evident at birth or the head may become abnormally large in the early years of life. Additional clinical features include behavioral abnormalities, psychosis, learning difficulties, prognathism, myopia and astigmatism." []
xref: MedGen:C3806412
xref: MeSH:D058627
xref: MIM:248000 "phenotype"
[Term]
id: DI-03994
name: Spinocerebellar ataxia, autosomal recessive, 7
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR7 patients show difficulty walking and writing, dysarthria, limb ataxia, and cerebellar atrophy." []
xref: MedGen:C1836474
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:609270 "phenotype"
[Term]
id: DI-03995
name: Immunodeficiency 14A with lymphoproliferation, autosomal dominant
def: "A disorder characterized by recurrent respiratory infections, progressive airway damage, lymphopenia, increased circulating transitional B cells, increased immunoglobulin M, reduced immunoglobulin G2 levels in serum, and impaired vaccine responses." []
synonym: "Activated PI3K-delta immunodeficiency syndrome" [UniProt]
synonym: "Activated PI3K-delta syndrome" [UniProt]
synonym: "APDS" [UniProt]
synonym: "p110-delta-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency" [UniProt]
synonym: "PASLI" [UniProt]
xref: MedGen:C3714976
xref: MedGen:CN185290
xref: MeSH:D007153
xref: MIM:615513 "phenotype"
[Term]
id: DI-03996
name: Combined oxidative phosphorylation deficiency 18
def: "An autosomal recessive disorder of mitochondrial dysfunction characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis associated with decreased mitochondrial respiratory chain activity. Affected patients may also show hematologic abnormalities, mainly macrocytic anemia." []
xref: MedGen:C3810001
xref: MedGen:CN182925
xref: MeSH:D028361
xref: MIM:615578 "phenotype"
[Term]
id: DI-03997
name: Fanconi renotubular syndrome 3
def: "A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS3 inheritance is autosomal dominant." []
xref: MedGen:C3810100
xref: MedGen:CN183736
xref: MeSH:D005198
xref: MIM:615605 "phenotype"
[Term]
id: DI-03998
name: Macular degeneration, age-related, 15
def: "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane." []
xref: MedGen:C3810042
xref: MedGen:CN183070
xref: MeSH:D008268
xref: MIM:615591 "phenotype"
[Term]
id: DI-03999
name: Verheij syndrome
def: "A syndrome characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly vertebral, abnormalities. Additional variable features may include coloboma, renal defects, and cardiac defects." []
synonym: "Chromosome 8q24.3 deletion syndrome" [UniProt]
xref: MedGen:C3810023
xref: MedGen:CN183033
xref: MeSH:D000015
xref: MIM:615583 "phenotype"
[Term]
id: DI-04000
name: Immunodeficiency 15B
def: "An autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T-cells, and impaired differentiation and activation of immune cells." []
xref: MedGen:C3810043
xref: MeSH:D016511
xref: MIM:615592 "phenotype"
[Term]
id: DI-04001
name: Immunodeficiency 16
def: "An autosomal recessive primary immunodeficiency associated with classic Kaposi sarcoma of childhood and poor T-cell recall immune responses due to complete functional OX40 deficiency." []
synonym: "OX40 deficiency" [UniProt]
xref: MedGen:C3810053
xref: MedGen:CN183733
xref: MeSH:D007153
xref: MIM:615593 "phenotype"
[Term]
id: DI-04002
name: Combined oxidative phosphorylation deficiency 19
def: "A mitochondrial disorder characterized by respiratory distress, hypotonia, and severe lactic acidosis in the newborn period. Other features include gastroesophageal reflux and elevated liver enzymes with normal synthetic function." []
xref: MedGen:C3810055
xref: MedGen:CN183092
xref: MeSH:D028361
xref: MIM:615595 "phenotype"
[Term]
id: DI-04003
name: Alzheimer disease 18
def: "A late-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death." []
synonym: "Alzheimer disease 18 late-onset" [UniProt]
xref: MedGen:C3810041
xref: MedGen:CN183072
xref: MeSH:D000544
xref: MIM:615590 "phenotype"
[Term]
id: DI-04004
name: Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity
def: "An autosomal recessive disorder characterized by impaired intellectual development, microcephaly, delayed psychomotor development, pyramidal signs, thin corpus callosum, and foot deformity." []
synonym: "MRT40" [UniProt]
xref: MedGen:C3810080
xref: MedGen:CN183731
xref: MeSH:D008607
xref: MIM:615599 "phenotype"
[Term]
id: DI-04005
name: Keratoderma, palmoplantar, Nagashima type
def: "An autosomal recessive, non-syndromic, diffuse palmoplantar keratosis characterized by well-demarcated diffuse erythematous hyperkeratosis expanding onto the dorsal surfaces of the palms and feet and the Achilles tendon area. Hyperkeratosis is mild and non-progressive." []
xref: MedGen:C3810072
xref: MedGen:CN183094
xref: MeSH:D007645
xref: MIM:615598 "phenotype"
[Term]
id: DI-04006
name: Congenital disorder of glycosylation 1W, autosomal recessive
def: "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions." []
xref: MedGen:C3810062
xref: MedGen:CN183093
xref: MeSH:D018981
xref: MIM:615596 "phenotype"
[Term]
id: DI-04007
name: Congenital disorder of glycosylation 1X
def: "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions." []
synonym: "CDG Ix" [UniProt]
synonym: "CDG-Ix" [UniProt]
synonym: "CDGIx" [UniProt]
synonym: "Congenital disorder of glycosylation type Ix" [UniProt]
xref: MedGen:C3810067
xref: MedGen:CN183730
xref: MeSH:D018981
xref: MIM:615597 "phenotype"
[Term]
id: DI-04008
name: Bleeding disorder, platelet-type, 17
def: "An autosomal dominant disorder characterized by increased bleeding tendency due to platelet dysfunction, and associated with macrothrombocytopenia and red cell anisopoikilocytosis. Platelets appear abnormal on light microscopy, while electron microscopy shows a heterogeneous decrease of alpha granules within platelets. Bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The severity of bleeding is variable with some affected individuals experiencing spontaneous bleeding while other exhibit only abnormal bleeding with surgery." []
synonym: "Autosomal dominant macrothrombocytopenia GFI1B-related" [UniProt]
synonym: "Autosomal dominant platelet disorder GFI1B-related" [UniProt]
synonym: "Hereditary thrombasthenia-thrombocytopenia" [UniProt]
xref: MedGen:C1861194
xref: MeSH:D001791
xref: MeSH:D006470
xref: MIM:187900 "phenotype"
[Term]
id: DI-04009
name: Arthrogryposis, distal, 5
def: "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA5 features include ocular abnormalities, typically ptosis, ophthalmoplegia and/or strabismus, in addition to contractures of the skeletal muscles. Some patients have pulmonary hypertension as a result of restrictive lung disease." []
synonym: "Arthrogryposis with oculomotor limitation and electroretinal abnormalities" [UniProt]
synonym: "DAIIB" [UniProt]
synonym: "Distal arthrogryposis type IIB" [UniProt]
synonym: "Oculomelic amyoplasia" [UniProt]
xref: MedGen:C1862472
xref: MeSH:D001176
xref: MIM:108145 "phenotype"
[Term]
id: DI-04010
name: Cataract 41
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive." []
synonym: "Congenital nuclear cataract 41" [UniProt]
xref: MedGen:C1861826
xref: MeSH:D002386
xref: MIM:116400 "phenotype"
[Term]
id: DI-04011
name: Ritscher-Schinzel syndrome 1
def: "A developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations. Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia. Cardiac defects can include septal defects and aortic stenosis, among others, and brain imaging shows Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior fossa cysts, and ventricular dilatation. Affected individuals have severe developmental delay." []
synonym: "3C syndrome" [UniProt]
synonym: "Craniocerebellocardiac dysplasia" [UniProt]
synonym: "Dandy-Walker-like malformation with atrioventricular septal defect" [UniProt]
xref: MedGen:C0796137
xref: MeSH:D003616
xref: MeSH:D006344
xref: MeSH:D019465
xref: MIM:220210 "phenotype"
[Term]
id: DI-04012
name: Deafness, X-linked, 6
def: "A non-syndromic form of sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:C3806737
xref: MedGen:CN184127
xref: MeSH:D006319
xref: MIM:300914 "phenotype"
[Term]
id: DI-04013
name: Microphthalmia, syndromic, 1
def: "A rare syndrome defined by the canonical features of unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary systems. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. Anomalies of the digits, teeth, and ears are hallmarks of MCOPS1. Intellectual disability ranges from mild to severe, with self-mutilating behaviors and seizures in severely affected MCOPS1 individuals." []
synonym: "ANOP1" [UniProt]
synonym: "Lenz dysplasia" [UniProt]
synonym: "Lenz microphthalmia syndrome" [UniProt]
synonym: "MAA" [UniProt]
synonym: "MCOPS4" [UniProt]
synonym: "Microphthalmia or anophthalmos with associated anomalies" [UniProt]
synonym: "Microphthalmia, syndromic 4" [UniProt]
xref: MedGen:C0796016
xref: MeSH:D008850
xref: MIM:309800 "phenotype"
[Term]
id: DI-04014
name: Arrhythmogenic right ventricular dysplasia, familial, 13
def: "A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias." []
synonym: "Arrhythmogenic right ventricular cardiomyopathy 13" [UniProt]
synonym: "ARVC13" [UniProt]
xref: MedGen:C3810138
xref: MedGen:CN183913
xref: MeSH:D019571
xref: MIM:615616 "phenotype"
[Term]
id: DI-04015
name: L-ferritin deficiency
def: "A condition characterized by low levels of ferritin in serum and tissues in the absence of other hematological symptoms. Seizures and mild neuropsychologic impairment may manifest in individuals with complete ferritin deficiency." []
synonym: "L-ferritin deficiency dominant and recessive" [UniProt]
xref: MedGen:C3810090
xref: MedGen:CN183734
xref: MeSH:D019189
xref: MIM:615604 "phenotype"
[Term]
id: DI-04016
name: Spastic ataxia 2, autosomal recessive
def: "A neurologic disorder characterized by cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. Cognition is not affected." []
xref: MedGen:C1969796
xref: MeSH:D002524
xref: MIM:611302 "phenotype"
[Term]
id: DI-04017
name: Spastic ataxia 3, autosomal recessive
def: "A neurologic disorder characterized by cerebellar ataxia, ataxic gait, spasticity, and hyperreflexia. Other variable features include dysarthria, dysmetria, mild cognitive impairment, urinary urgency and dystonic positioning." []
xref: MedGen:C1969645
xref: MeSH:D002524
xref: MIM:611390 "phenotype"
[Term]
id: DI-04018
name: Complement factor B deficiency
def: "An immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway." []
synonym: "Factor B deficiency" [UniProt]
xref: MedGen:C3809950
xref: MedGen:CN183732
xref: MeSH:D007154
xref: MIM:615561 "phenotype"
[Term]
id: DI-04019
name: Joubert syndrome 21
def: "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly." []
xref: MedGen:C3810212
xref: MedGen:CN184650
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:615636 "phenotype"
[Term]
id: DI-04020
name: Joubert syndrome 22
def: "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly." []
xref: MedGen:C3810278
xref: MedGen:CN184729
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:615665 "phenotype"
[Term]
id: DI-04021
name: Spondylocostal dysostosis 5
def: "A rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations. SCDO5 inheritance can be autosomal dominant or recessive." []
synonym: "Costovertebral segmentation anomalies" [UniProt]
synonym: "Scoliosis, congenital, with or without rib anomalies" [UniProt]
synonym: "Spondylocostal dysplasia" [UniProt]
synonym: "Spondylothoracic dysostosis" [UniProt]
synonym: "TACS" [UniProt]
xref: MedGen:C4083048
xref: MeSH:D004413
xref: MIM:122600 "phenotype"
[Term]
id: DI-04022
name: Lenz-Majewski hyperostotic dwarfism
def: "A syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. LMHD is characterized by the combination of sclerosing bone dysplasia, intellectual disability and distinct craniofacial, dental, cutaneous and distal limb anomalies. The progressive generalized hyperostosis associated with this syndrome affects the cranium, the vertebrae and the diaphyses of tubular bones, leading to severe growth restriction." []
synonym: "Lenz-Majewski syndrome" [UniProt]
synonym: "LMS" [UniProt]
xref: MedGen:C0432269
xref: MeSH:D004392
xref: MeSH:D008607
xref: MeSH:D015576
xref: MIM:151050 "phenotype"
[Term]
id: DI-04023
name: Pulmonary venoocclusive disease 2, autosomal recessive
def: "A disease characterized by widespread fibrous obstruction and intimal thickening of septal veins and preseptal venules, a low diffusing capacity for carbon monoxide, occult alveolar hemorrhage, and nodular ground-glass opacities, septal lines and lymph node enlargement showed by high-resolution computed tomography of the chest. It is frequently associated with pulmonary capillary dilatation and proliferation, and is a rare and devastating cause of pulmonary hypertension." []
synonym: "Familial pulmonary capillary hemangiomatosis" [UniProt]
xref: MedGen:C0340848
xref: MeSH:D006976
xref: MeSH:D011668
xref: MIM:234810 "phenotype"
[Term]
id: DI-04024
name: Spastic paraplegia 45, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG45 patients manifest intellectual disability, contractures and learning disability." []
xref: MedGen:C2680447
xref: MeSH:D015419
xref: MIM:613162 "phenotype"
[Term]
id: DI-04025
name: Spinocerebellar ataxia, autosomal recessive, 12
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR12 is additionally characterized by onset of generalized seizures in infancy, and delayed psychomotor development with intellectual disability. Some patients may also show spasticity." []
xref: MedGen:C3280452
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:614322 "phenotype"
[Term]
id: DI-04026
name: Deafness, autosomal recessive, 86
def: "A form of non-syndromic deafness characterized by prelingual onset of profound sensorineural hearing loss affecting all frequencies." []
xref: MedGen:CN124880
xref: MeSH:D006319
xref: MIM:614617 "phenotype"
[Term]
id: DI-04027
name: Immunodeficiency 19
def: "An autosomal recessive form of severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T-cell negative, B-cell positive, NK-cell positive phenotype." []
synonym: "CD3-delta deficiency" [UniProt]
synonym: "T cell-negative, B cell-positive, NK cell-positive SCID" [UniProt]
synonym: "T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency" [UniProt]
xref: MedGen:C3810147
xref: MedGen:CN184331
xref: MeSH:D007153
xref: MIM:615617 "phenotype"
[Term]
id: DI-04028
name: Spastic paraplegia 72A, autosomal dominant
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG72A is a pure form of spastic paraplegia with onset of difficulty walking and stiff legs associated with hyperreflexia and extensor plantar responses in early childhood. Some patients may have pes cavus or sphincter disturbances. Cognition, speech, and ocular function are normal." []
xref: MedGen:C3810161
xref: MedGen:CN184360
xref: MeSH:D015419
xref: MIM:615625 "phenotype"
[Term]
id: DI-04029
name: Spastic paraplegia 57, autosomal recessive
def: "A complicated form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations." []
xref: MedGen:C3714897
xref: MedGen:CN184732
xref: MeSH:D015419
xref: MIM:615658 "phenotype"
[Term]
id: DI-04030
name: Deafness, autosomal dominant, 56
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA56 is characterized by progressive hearing impairment with postlingual onset." []
xref: MedGen:C3810170
xref: MedGen:CN184361
xref: MeSH:D006319
xref: MIM:615629 "phenotype"
[Term]
id: DI-04031
name: Immunodeficiency 7
def: "A primary immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR-gamma/delta, but little or no TCR-alpha/beta." []
synonym: "Immunodeficiency 7, TCR-alpha/beta deficient" [UniProt]
synonym: "T-cell receptor-alpha/beta deficiency" [UniProt]
synonym: "TCR-alpha/beta deficiency" [UniProt]
xref: MedGen:C3809332
xref: MedGen:CN179773
xref: MeSH:D007153
xref: MIM:615387 "phenotype"
[Term]
id: DI-04032
name: Anemia, congenital dyserythropoietic, 1B
def: "An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic anemia and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural features include internuclear chromatin bridges connecting some nearly completely separated erythroblasts and an abnormal appearance (spongy or Swiss-cheese appearance) of the heterochromatin in a high proportion of the erythroblasts." []
synonym: "CDA Ib" [UniProt]
synonym: "Congenital dyserythropoietic anemia type Ib" [UniProt]
xref: MedGen:C3810185
xref: MedGen:CN184538
xref: MeSH:D000742
xref: MIM:615631 "phenotype"
[Term]
id: DI-04033
name: Immunodeficiency 17
def: "An autosomal recessive primary immunodeficiency characterized by highly variable clinical severity. Some patients have onset of severe recurrent infections in early infancy that may be lethal, whereas others may be only mildly affected or essentially asymptomatic into young adulthood. More severely affected patients may have evidence of autoimmune disease or enteropathy. The immunologic pattern is similar among patients, showing partial T-cell lymphopenia, decreased amounts of the CD3 complex, and impaired proliferative responses to T-cell receptor dependent stimuli. The phenotype in some patients is reminiscent of severe combined immunodeficiency." []
synonym: "CD3-gamma deficiency" [UniProt]
synonym: "SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive" [UniProt]
xref: MedGen:C3810107
xref: MedGen:CN184222
xref: MeSH:D007153
xref: MIM:615607 "phenotype"
[Term]
id: DI-04034
name: Immunodeficiency 18
def: "An autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18." []
synonym: "CD3-epsilon deficiency" [UniProt]
synonym: "Immunodeficiency 18, SCID variant" [UniProt]
synonym: "Immunodeficiency 18, severe combined immunodeficiency variant" [UniProt]
xref: MedGen:C3810127
xref: MedGen:CN184330
xref: MedGen:CN184333
xref: MeSH:D007153
xref: MIM:615615 "phenotype"
[Term]
id: DI-04035
name: Short-rib thoracic dysplasia 10 with or without polydactyly
def: "A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome." []
xref: MedGen:C3810175
xref: MedGen:CN184534
xref: MeSH:D012779
xref: MIM:615630 "phenotype"
[Term]
id: DI-04036
name: Short-rib thoracic dysplasia 11 with or without polydactyly
def: "A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome." []
xref: MedGen:C3810200
xref: MedGen:CN184535
xref: MeSH:D012779
xref: MIM:615633 "phenotype"
[Term]
id: DI-04037
name: Neuropathy, hereditary sensory, 1F
def: "An autosomal dominant sensory neuropathy affecting the lower limbs. Distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation. There is no autonomic involvement, spasticity, or cognitive impairment." []
synonym: "Hereditary sensory neuropathy type IF" [UniProt]
synonym: "HSN IF" [UniProt]
xref: MedGen:C3810194
xref: MedGen:CN184543
xref: MeSH:D009477
xref: MIM:615632 "phenotype"
[Term]
id: DI-04038
name: Intellectual developmental disorder, autosomal recessive 41
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT41 most consistent features are global developmental delay, macrocephaly with frontal bossing, high levels of anxiety, and some features suggestive of a pervasive developmental disorder. Less common features include fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly." []
xref: MedGen:C3810225
xref: MedGen:CN184651
xref: MeSH:D008607
xref: MIM:615637 "phenotype"
[Term]
id: DI-04039
name: Neurodegeneration with brain iron accumulation 6
def: "A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive motor and cognitive dysfunction beginning in childhood or young adulthood. Patients show extrapyramidal motor signs, such as spasticity, dystonia, and parkinsonism." []
xref: MedGen:C3810230
xref: MedGen:CN184649
xref: MeSH:D001480
xref: MeSH:D019150
xref: MeSH:D019189
xref: MIM:615643 "phenotype"
[Term]
id: DI-04040
name: Leukoencephalopathy with ataxia
def: "An autosomal recessive neurologic disorder with a characteristic pattern of white matter abnormalities on brain MRI. Affected individuals have prominent signal abnormalities and decreased apparent diffusion coefficient values in the posterior limbs of the internal capsules, middle cerebral peduncles, pyramidal tracts in the pons, and middle cerebellar peduncles, suggesting myelin microvacuolation. Clinical features include ataxia and unstable gait. More variable abnormalities may include visual field defects, headaches, and learning disabilities." []
xref: MedGen:C3810242
xref: MedGen:CN184653
xref: MeSH:D002524
xref: MeSH:D056784
xref: MIM:615651 "phenotype"
[Term]
id: DI-04041
name: Warburg micro syndrome 4
def: "A form of Warburg micro syndrome, a rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe intellectual disability, spastic diplegia, and hypogonadism." []
xref: MedGen:C3810265
xref: MedGen:CN184728
xref: MeSH:D000015
xref: MIM:615663 "phenotype"
[Term]
id: DI-04042
name: Morbid obesity and spermatogenic failure
def: "An autosomal recessive morbid obesity syndrome characterized by hypertension, fatty liver disease, insulin resistance, and decreased sperm counts. Variable clinical manifestations are early coronary artery disease with myocardial infarction before 45 years of age, type II diabetes mellitus, and intellectual disability. Morbid obese individuals are defined as having a BMI greater than 40." []
synonym: "MO1 syndrome" [UniProt]
xref: MedGen:C3810324
xref: MedGen:CN185305
xref: MeSH:D007248
xref: MeSH:D009767
xref: MIM:615703 "phenotype"
[Term]
id: DI-04043
name: Bone marrow failure syndrome 2
def: "An autosomal recessive disorder characterized by trilineage bone marrow failure, bone marrow hypocellularity, learning difficulties, and microcephaly. Insufficient hematopoiesis results in peripheral blood cytopenias, affecting myeloid, erythroid and megakaryocyte lines. Cutaneous features and increased chromosome breakage are not features." []
xref: MedGen:C3810350
xref: MedGen:CN185451
xref: MeSH:D000080983
xref: MIM:615715 "phenotype"
[Term]
id: DI-04044
name: Dowling-Degos disease 4
def: "A form of Dowling-Degos disease, a genodermatosis manifesting with postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. DDD4 is characterized by prominent involvement of non-flexural skin areas." []
xref: MedGen:C3810313
xref: MedGen:CN185282
xref: MeSH:D017444
xref: MeSH:D017495
xref: MIM:615696 "phenotype"
[Term]
id: DI-04045
name: Spastic paraplegia 61, autosomal recessive
def: "A complicated form of spastic paraplegia with polysensory and motor neuropathy. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body." []
xref: MedGen:C3810294
xref: MedGen:CN184980
xref: MeSH:D015419
xref: MIM:615685 "phenotype"
[Term]
id: DI-04046
name: Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis
def: "An autosomal dominant form of hereditary poikiloderma, a genodermatosis characterized by mottled pigmentation, telangiectasia, and epidermal atrophy. POIKTMP features include tendon contracture, myopathy, and progressive pulmonary fibrosis. It manifests from early childhood with telangiectasia and pigmentary anomalies especially on the face and sun-exposed areas, tendon contractures that particularly involve the ankles and feet causing gait disturbance, and development of pulmonary fibrosis during the second decade of life resulting in progressive dyspnea and restrictive impairment of lung function." []
synonym: "Hereditary sclerosing poikiloderma with tendon and pulmonary involvement" [UniProt]
xref: MedGen:C3810325
xref: MedGen:CN185373
xref: MeSH:D003286
xref: MeSH:D009135
xref: MeSH:D011658
xref: MIM:615704 "phenotype"
[Term]
id: DI-04047
name: Alzheimer disease 19
def: "A late-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death." []
synonym: "Late-onset Alzheimer disease" [UniProt]
xref: MedGen:C3810349
xref: MedGen:CN185377
xref: MeSH:D000544
xref: MIM:615711 "phenotype"
[Term]
id: DI-04048
name: Foveal hypoplasia 2
def: "An isolated form of foveal hypoplasia, a developmental defect of the eye defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Clinical features include absence of foveal pit on optical coherence tomography, absence of foveal hyperpigmentation, absence of foveal avascularity, absence of foveal and macular reflexes, decreased visual acuity, and nystagmus. Optic nerve misrouting and anterior segment dysgenesis are observed in some FVH2 patients." []
synonym: "FHONDA" [UniProt]
synonym: "Foveal hypoplasia and anterior segment dysgenesis" [UniProt]
synonym: "Foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis" [UniProt]
synonym: "Foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis without albinism" [UniProt]
xref: MedGen:C1836603
xref: MeSH:D015785
xref: MIM:609218 "phenotype"
[Term]
id: DI-04049
name: Hyperphosphatasia with impaired intellectual development syndrome 4
def: "An autosomal recessive neurologic disorder characterized by profound developmental delay, severe intellectual disability, no speech, psychomotor delay, postnatal microcephaly, and elevated serum alkaline phosphatase." []
synonym: "Glycosylphosphatidylinositol biosynthesis defect 10" [UniProt]
synonym: "GPIBD10" [UniProt]
xref: MedGen:C3810354
xref: MedGen:CN185452
xref: MeSH:D008607
xref: MeSH:D010760
xref: MIM:615716 "phenotype"
[Term]
id: DI-04050
name: Immunodeficiency 20
def: "A rare autosomal recessive primary immunodeficiency characterized by functional deficiency of NK cells. Affected individuals typically present with severe herpes viral infections, particularly Epstein Barr virus (EBV), and human papillomavirus (HPV)." []
xref: MedGen:C3810342
xref: MedGen:CN185376
xref: MeSH:D007153
xref: MIM:615707 "phenotype"
[Term]
id: DI-04051
name: Schwannomatosis 2
def: "A form of schwannomatosis, a tumor predisposition syndrome characterized by the development of multiple benign nerve sheath tumors called schwannomas on cranial, spinal, and peripheral nerves, without involvement of the vestibular nerve. SWN2 affected individuals have multiple schwannomas in various areas of the body. SWN2 transmission pattern is consistent with autosomal dominant inheritance and incomplete penetrance." []
synonym: "SWNTS2" [UniProt]
xref: MedGen:C3810283
xref: MedGen:CN185295
xref: MeSH:D009442
xref: MIM:615670 "phenotype"
[Term]
id: DI-04052
name: Auriculocondylar syndrome 3
def: "An autosomal recessive form of auriculocondylar syndrome, a craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects." []
xref: MedGen:C3810332
xref: MedGen:CN185375
xref: MeSH:D004427
xref: MeSH:D018640
xref: MIM:615706 "phenotype"
[Term]
id: DI-04053
name: Question mark ears, isolated
def: "An auricular abnormality characterized by a cleft between the lobule and the lower part of the helix, sometimes accompanied by a prominent or deficient upper part of the helix, shallow skin dimple on the posterior surface of the ear, or transposition of the ear lobe/antitragus." []
synonym: "Congenital auricular cleft" [UniProt]
synonym: "Cosman deformity of the auricle" [UniProt]
synonym: "Prominent and constricted ears" [UniProt]
xref: MedGen:C2748545
xref: MeSH:D004427
xref: MIM:612798 "phenotype"
[Term]
id: DI-04054
name: Spinocerebellar ataxia, autosomal recessive, 15
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR15 patients manifest cerebellar ataxia in early childhood and delayed motor development with delayed walking. Additional features include dysarthria, upper limb involvement, abnormal eye movements, and hyporeflexia." []
synonym: "Salih ataxia" [UniProt]
xref: MedGen:C3810326
xref: MedGen:CN185374
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:615705 "phenotype"
[Term]
id: DI-04055
name: Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
def: "An autosomal recessive, systemic necrotizing vasculitis that affects medium and small arteries. The ensuing tissue ischemia can affect any organ, including the skin, musculoskeletal system, kidneys, gastrointestinal tract, and the cardiovascular and nervous systems. Organ involvement and disease severity are highly variable. Clinical features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, myalgias, livedoid rash, gastrointestinal pain and hepatosplenomegaly." []
synonym: "ADA2 deficiency" [UniProt]
synonym: "PAN" [UniProt]
synonym: "Periarteritis nodosa" [UniProt]
synonym: "Polyarteritis nodosa" [UniProt]
xref: MedGen:C0031036
xref: MeSH:D010488
xref: MIM:615688 "phenotype"
[Term]
id: DI-04056
name: Spastic paraplegia 64, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body." []
xref: MedGen:C3810289
xref: MedGen:CN184979
xref: MeSH:D015419
xref: MIM:615683 "phenotype"
[Term]
id: DI-04057
name: Spastic paraplegia 63, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body." []
xref: MedGen:C3810295
xref: MedGen:CN184981
xref: MeSH:D015419
xref: MIM:615686 "phenotype"
[Term]
id: DI-04058
name: Myopathy with extrapyramidal signs
def: "An autosomal recessive disorder characterized by early-onset proximal muscle weakness with a static course and moderately to grossly elevated serum creatine kinase levels accompanied by learning difficulties. Most patients develop subtle extrapyramidal motor signs that progress to a debilitating disorder of involuntary movement with variable features, including chorea, tremor, dystonic posturing and orofacial dyskinesia. Additional variable features include ataxia, microcephaly, ophthalmoplegia, ptosis, optic atrophy and axonal peripheral neuropathy." []
xref: MedGen:C3810285
xref: MedGen:CN185296
xref: MeSH:D007859
xref: MeSH:D009069
xref: MeSH:D009135
xref: MIM:615673 "phenotype"
[Term]
id: DI-04059
name: Intellectual developmental disorder, autosomal recessive 27
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:C3280538
xref: MeSH:D008607
xref: MIM:614340 "phenotype"
[Term]
id: DI-04060
name: Retinitis pigmentosa 23
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C1845542
xref: MeSH:D012174
xref: MIM:300424 "phenotype"
[Term]
id: DI-04061
name: Spondylometaphyseal dysplasia with cone-rod dystrophy
def: "An autosomal recessive disorder characterized by postnatal growth deficiency resulting in profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction." []
xref: MedGen:C1837073
xref: MeSH:D010009
xref: MeSH:D012174
xref: MIM:608940 "phenotype"
[Term]
id: DI-04062
name: Pentosuria
def: "An inborn error of metabolism characterized by excessive urinary excretion of L-xylulose." []
synonym: "L-xylulose reductase deficiency" [UniProt]
synonym: "L-xylulosuria" [UniProt]
synonym: "Xylitol dehydrogenase deficiency" [UniProt]
xref: MedGen:C0268162
xref: MIM:260800 "phenotype"
[Term]
id: DI-04063
name: Richieri-Costa-Pereira syndrome
def: "A syndrome characterized by a unique pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of mandible, cleft palate/Robin sequence, absence of central lower incisors, minor ears anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability is also a common finding." []
synonym: "Richieri-Costa and Pereira syndrome" [UniProt]
synonym: "Robin sequence with cleft mandible and limb anomalies" [UniProt]
xref: MedGen:C1849348
xref: MeSH:D003025
xref: MeSH:D006228
xref: MeSH:D010855
xref: MIM:268305 "phenotype"
[Term]
id: DI-04064
name: Retinitis pigmentosa 68
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:C3810380
xref: MedGen:CN185699
xref: MeSH:D012174
xref: MIM:615725 "phenotype"
[Term]
id: DI-04065
name: Boucher-Neuhauser syndrome
def: "An autosomal recessive disorder characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop 1 or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present." []
synonym: "Spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy" [UniProt]
xref: MedGen:C1859093
xref: MeSH:D007006
xref: MeSH:D013132
xref: MeSH:D058499
xref: MIM:215470 "phenotype"
[Term]
id: DI-04066
name: Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development
def: "An autosomal dominant disease characterized by uveal colobomata, microphthalmia, cataract and cleft lip/palate. Considerable variability is observed among patients, uveal colobomata being the most constant feature. Some patients manifest intellectual disability of varying degree and/or sensorineural, mid-frequency hearing loss." []
xref: MedGen:C1852750
xref: MeSH:D002971
xref: MeSH:D002972
xref: MeSH:D003103
xref: MeSH:D008607
xref: MeSH:D034381
xref: MIM:120433 "phenotype"
[Term]
id: DI-04067
name: Intellectual developmental disorder, autosomal dominant 23
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD23 patients manifest moderate to severe intellectual disability with additional variable features of brachycephaly, a low hairline, depressed nasal bridge, prominent high nasal root, tubular nose, upslanting palpebral fissures, long and smooth philtrum, micrognathia, thin upper lip, and crowded teeth. Behavioral problems, including obsessive-compulsive disorder, hand flapping with ritualized behavior, and autism, are prominent features." []
xref: MedGen:C3810406
xref: MedGen:CN186200
xref: MeSH:D008607
xref: MIM:615761 "phenotype"
[Term]
id: DI-04068
name: Retinitis pigmentosa 69
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:CN187047
xref: MeSH:D012174
xref: MIM:615780 "phenotype"
[Term]
id: DI-04069
name: Intellectual developmental disorder, autosomal recessive 43
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:CN188213
xref: MeSH:D008607
xref: MIM:615817 "phenotype"
[Term]
id: DI-04070
name: Premature ovarian failure 9
def: "An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol." []
xref: MedGen:C3810376
xref: MedGen:CN185546
xref: MeSH:D016649
xref: MIM:615724 "phenotype"
[Term]
id: DI-04071
name: Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
def: "An autosomal recessive developmental disorder with features of a first and second branchial arch syndrome, and with unique rhizomelic skeletal anomalies. Craniofacial abnormalities can lead to conductive hearing loss, respiratory insufficiency, and feeding difficulties. Skeletal features include bilateral humeral hypoplasia, humeroscapular synostosis, pelvic abnormalities, and proximal defects of the femora. Affected individuals may also have some features of a neurocristopathy or abnormal mesoderm development, such as urogenital anomalies, that are distinct from other branchial arch syndromes." []
xref: MedGen:C1865361
xref: MeSH:D001848
xref: MIM:602471 "phenotype"
[Term]
id: DI-04072
name: Sacral agenesis with vertebral anomalies
def: "A disorder characterized by abnormalities of the spine, including sacral agenesis, abnormal ossification of all vertebral bodies, and a persistent notochordal canal during development." []
xref: MedGen:C3810343
xref: MedGen:CN186032
xref: MeSH:D013122
xref: MIM:615709 "phenotype"
[Term]
id: DI-04073
name: Nemaline myopathy 9
def: "An autosomal recessive form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM9 phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood." []
xref: MedGen:C3810384
xref: MedGen:CN185876
xref: MeSH:D017696
xref: MIM:615731 "phenotype"
[Term]
id: DI-04074
name: Moyamoya disease 6 with or without achalasia
def: "A form of Moyamoya disease, a progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. MYMY6 is characterized by severe cerebral angiopathy and onset of severe achalasia in infancy or early childhood." []
synonym: "Moyamoya 6 with achalasia" [UniProt]
xref: MedGen:C3810403
xref: MeSH:D009072
xref: MIM:615750 "phenotype"
[Term]
id: DI-04075
name: Atrial standstill 2
def: "A rare arrhythmia characterized by the absence of electrical and mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia, the absence of P waves, and a junctional narrow complex escape rhythm." []
synonym: "Atrial dilated cardiomyopathy with atrial standstill" [UniProt]
synonym: "Atrial dilation and standstill" [UniProt]
xref: MedGen:C3810401
xref: MedGen:CN186043
xref: MeSH:D006327
xref: MeSH:D009202
xref: MIM:615745 "phenotype"
[Term]
id: DI-04076
name: Bardet-Biedl syndrome 17
def: "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease." []
xref: MedGen:C3714980
xref: MedGen:CN220306
xref: MeSH:D020788
xref: MIM:615994 "phenotype"
[Term]
id: DI-04077
name: Bardet-Biedl syndrome 18
def: "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease." []
xref: MedGen:C3806174
xref: MedGen:CN186038
xref: MedGen:CN220295
xref: MeSH:D020788
xref: MIM:615995 "phenotype"
[Term]
id: DI-04078
name: Visceral myopathy 1
def: "An autosomal dominant form of myopathic pseudo-obstruction characterized by impaired function of enteric smooth muscle cells, resulting in abnormal intestinal motility, severe abdominal pain, malnutrition, and even death. The disease shows inter- and intrafamilial variability. Most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and dependence on total parenteral nutrition and urinary catheterization." []
synonym: "Berdon syndrome" [UniProt]
synonym: "Idiopathic intestinal pseudoobstruction" [UniProt]
synonym: "Infantile visceral myopathy" [UniProt]
synonym: "Megacystis-microcolon-intestinal hypoperistalsis syndrome" [UniProt]
synonym: "Megaduodenum and/or megacystis" [UniProt]
synonym: "MMIH" [UniProt]
xref: MedGen:C0266833
xref: MedGen:C1835084
xref: MeSH:D007418
xref: MIM:155310 "phenotype"
[Term]
id: DI-04079
name: Immunodeficiency 22
def: "A primary immunodeficiency characterized by T-cell dysfunction. Affected individuals present with lymphopenia, recurrent infections, severe diarrhea, and failure to thrive." []
xref: MedGen:CN186319
xref: MeSH:D007153
xref: MIM:615758 "phenotype"
[Term]
id: DI-04080
name: Immunodeficiency, common variable, 11
def: "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low." []
synonym: "IL21 deficiency" [UniProt]
xref: MedGen:CN186320
xref: MeSH:D017074
xref: MIM:615767 "phenotype"
[Term]
id: DI-04081
name: Spinocerebellar ataxia, autosomal recessive, 16
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR16 is characterized by truncal and limb ataxia resulting in gait instability. Additionally, patients may show dysarthria, nystagmus, spasticity of the lower limbs, and mild peripheral sensory neuropathy." []
xref: MedGen:CN186321
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:615768 "phenotype"
[Term]
id: DI-04082
name: Atrial fibrillation, familial, 15
def: "A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure." []
xref: MedGen:CN186322
xref: MeSH:D001281
xref: MIM:615770 "phenotype"
[Term]
id: DI-04083
name: Cortical dysplasia, complex, with other brain malformations 6
def: "A disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have microcephaly, ataxia, and severe delayed psychomotor development. Brain imaging shows variable malformations of cortical development, including white matter streaks, dysmorphic basal ganglia, corpus callosum abnormalities, brainstem and cerebellar hypoplasia, cortical dysplasia, polymicrogyria." []
xref: MedGen:CN186681
xref: MeSH:D054081
xref: MIM:615771 "phenotype"
[Term]
id: DI-04084
name: Epilepsy, idiopathic generalized 13
def: "A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures." []
xref: MedGen:C2749942
xref: MeSH:D004829
xref: MIM:611136 "phenotype"
[Term]
id: DI-04085
name: Congenital heart defects, multiple types, 4
def: "A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions." []
xref: MedGen:CN187046
xref: MeSH:D006330
xref: MIM:615779 "phenotype"
[Term]
id: DI-04086
name: Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities
def: "An autosomal recessive disorder characterized by severely delayed global development, with hypotonia, impaired intellectual development, and poor or absent speech. Most patients have spasticity with limb hypertonia and brisk tendon reflexes. Additional features include non- specific dysmorphic facial features, structural brain abnormalities, and cortical visual impairment." []
synonym: "Glycosylphosphatidylinositol biosynthesis defect 9" [UniProt]
synonym: "GPIBD9" [UniProt]
synonym: "MRT42" [UniProt]
xref: MedGen:CN187210
xref: MeSH:D008607
xref: MIM:615802 "phenotype"
[Term]
id: DI-04087
name: Pontocerebellar hypoplasia 10
def: "A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH10 features include cortical dysgenesis marked by a simplified gyral pattern, cortical atrophy, mild or focal cerebellar vermian volume loss, delayed myelination, progressive microcephaly, global growth and developmental delays, severe intellectual disabilities, and seizures refractory to treatment." []
xref: MedGen:CN188186
xref: MeSH:D002526
xref: MIM:615803 "phenotype"
[Term]
id: DI-04088
name: Pontocerebellar hypoplasia 9
def: "A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH9 features include severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy, thin corpus callosum, and delayed myelination." []
xref: MedGen:CN188188
xref: MeSH:D002526
xref: MIM:615809 "phenotype"
[Term]
id: DI-04089
name: Seckel syndrome 8
def: "A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability." []
xref: MedGen:CN188187
xref: MeSH:D004392
xref: MeSH:D008831
xref: MIM:615807 "phenotype"
[Term]
id: DI-04090
name: Abdominal obesity-metabolic syndrome 3
def: "A form of abdominal obesity-metabolic syndrome, a disorder characterized by abdominal obesity, high triglycerides, low levels of high density lipoprotein cholesterol, high blood pressure, and elevated fasting glucose levels. AOMS3 is characterized by early-onset coronary artery disease, central obesity, hypertension, and diabetes." []
synonym: "Central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease" [UniProt]
xref: MedGen:CN188185
xref: MeSH:D024821
xref: MIM:615812 "phenotype"
[Term]
id: DI-04091
name: Oocyte/zygote/embryo maturation arrest 1
def: "An autosomal recessive infertility disorder caused by defective oocyte maturation that results in abnormal eggs lacking a zona pellucida. Affected females have normal menstrual cycles and sex hormone levels, no obstruction in the fallopian tubes or abnormalities of the uterus or adnexa." []
synonym: "Oocyte maturation defect 1" [UniProt]
synonym: "OOMD" [UniProt]
synonym: "OOMD1" [UniProt]
xref: MedGen:CN186706
xref: MeSH:D007247
xref: MIM:615774 "phenotype"
[Term]
id: DI-04092
name: Developmental and epileptic encephalopathy 19
def: "A severe neurologic disorder characterized by onset of seizures in the first months of life and usually associated with EEG abnormalities. Affected infants have convulsive seizures (hemiclonic or generalized) that are often prolonged and triggered by fever. Other seizure types include focal, myoclonic, absence seizures, and drop attacks. Development is normal in the first year of life with later slowing and intellectual disability." []
synonym: "EIEE19" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 19" [UniProt]
xref: MedGen:C3810400
xref: MeSH:D004827
xref: MIM:615744 "phenotype"
[Term]
id: DI-04093
name: Premature ovarian failure 8
def: "An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol." []
xref: MedGen:C3810367
xref: MedGen:CN185545
xref: MeSH:D016649
xref: MIM:615723 "phenotype"
[Term]
id: DI-04094
name: Pachyonychia congenita 3
def: "An autosomal dominant genodermatosis characterized by hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts." []
xref: MedGen:C3714948
xref: MedGen:CN185878
xref: MeSH:D053549
xref: MIM:615726 "phenotype"
[Term]
id: DI-04095
name: Pachyonychia congenita 4
def: "An autosomal dominant genodermatosis characterized by hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts." []
xref: MedGen:C3714949
xref: MedGen:CN185879
xref: MeSH:D053549
xref: MIM:615728 "phenotype"
[Term]
id: DI-04096
name: Palmoplantar keratoderma, non-epidermolytic, focal or diffuse
def: "A dermatological disorder characterized by non-epidermolytic abnormal thickening of the skin on the palms and soles. Diffuse palmoplantar keratoderma is characterized by uniform involvement of the palmoplantar surface, while the focal form consists of localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction." []
synonym: "Nonepidermolytic focal or diffuse palmoplantar keratoderma" [UniProt]
xref: MedGen:C3810394
xref: MedGen:CN185877
xref: MeSH:D007645
xref: MIM:615735 "phenotype"
[Term]
id: DI-04097
name: Cortical dysplasia, complex, with other brain malformations 5
def: "A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include seizures, global developmental delay, and various brain malformations such as a diffuse simplified gyral pattern with reduced volume of white matter, globular basal ganglia, thin and dysmorphic corpus callosum, mild brainstem hypoplasia with a flat pons, mild cerebellar vermis hypoplasia, and mildly enlarged posterior fossa." []
xref: MedGen:C3810407
xref: MedGen:CN186201
xref: MeSH:D054081
xref: MIM:615763 "phenotype"
[Term]
id: DI-04098
name: Ichthyosis, congenital, autosomal recessive 11
def: "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs." []
synonym: "ARIH" [UniProt]
synonym: "Autosomal recessive ichthyosis with hypotrichosis" [UniProt]
synonym: "Ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis" [UniProt]
synonym: "IFAH" [UniProt]
xref: MedGen:C1865595
xref: MeSH:D017490
xref: MIM:602400 "phenotype"
[Term]
id: DI-04099
name: Melanocytic nevus syndrome, congenital
def: "A syndrome characterized by congenital pigmentary skin lesions which can occur at any site and can cover most of the body surface. These lesions may or may not be hairy. Congenital melanocytic nevi are associated with neuromelanosis (the presence of melanin-producing cells within the brain parenchyma or leptomeninges). Less commonly they are associated with malignant melanoma in childhood, both in the skin and the central nervous system. CMNS patients also tend to have a characteristic facial appearance, including wide or prominent forehead, periorbital fullness, small short nose with narrow nasal bridge, round face, full cheeks, prominent premaxilla, and everted lower lip." []
synonym: "Giant congenital pigmented nevus" [UniProt]
synonym: "Giant pigmented hairy nevus" [UniProt]
synonym: "GPHN" [UniProt]
synonym: "Pigmented moles" [UniProt]
xref: MedGen:C1842036
xref: MeSH:D009508
xref: MIM:137550 "phenotype"
[Term]
id: DI-04100
name: Melanosis, neurocutaneous
def: "A rare congenital disease characterized by the presence of giant or multiple melanocytic nevi on the skin, foci of melanin-producing cells within the brain parenchyma, and infiltration of leptomeninges by abnormal melanin deposits. Neurologic abnormalities include seizures, hydrocephalus, arachnoid cysts, tumors, and syringomyelia. Some patients may develop malignant melanoma." []
synonym: "Neuromelanosis" [UniProt]
xref: MedGen:C0544862
xref: MeSH:D008548
xref: MeSH:D020752
xref: MIM:249400 "phenotype"
[Term]
id: DI-04101
name: Intellectual developmental disorder, X-linked 99
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations." []
synonym: "MRX99" [UniProt]
xref: MedGen:C3806746
xref: MedGen:CN186197
xref: MeSH:D038901
xref: MIM:300919 "phenotype"
[Term]
id: DI-04102
name: Microhydranencephaly
def: "A severe neurodevelopmental disorder characterized by microcephaly, severe motor and intellectual disability, spasticity, and brain malformations that include gross dilation of the ventricles with complete absence of the cerebral hemispheres or severe delay in their development." []
xref: MedGen:C1857977
xref: MeSH:D006832
xref: MeSH:D008831
xref: MIM:605013 "phenotype"
[Term]
id: DI-04103
name: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
def: "A severe, autosomal recessive, neurodevelopmental and neurodegenerative disorder characterized by progressive microcephaly, severe seizures in infancy, atrophy of the cerebral cortex and cerebellar vermis, and mild atrophy of the cerebellar hemispheres, resulting in profoundly delayed development and hypotonia." []
xref: MedGen:CN186296
xref: MeSH:D008831
xref: MeSH:D012640
xref: MIM:615760 "phenotype"
[Term]
id: DI-04104
name: Cortical dysplasia, complex, with other brain malformations 14B (bilateral perisylvian)
def: "An autosomal recessive disorder characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure. Affected individuals have intellectual and language difficulty and seizures, but no motor disability. Polymicrogyria is a malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. It is considered to be the result of postmigratory abnormal cortical organization." []
synonym: "BPPR" [UniProt]
synonym: "PMGR" [UniProt]
synonym: "Polymicrogyria, bilateral perisylvian, autosomal recessive" [UniProt]
xref: MedGen:C3810405
xref: MedGen:CN186195
xref: MeSH:D054220
xref: MIM:615752 "phenotype"
[Term]
id: DI-04105
name: Hyperammonemia due to carbonic anhydrase VA deficiency
def: "An autosomal recessive inborn error of metabolism, clinically characterized by infantile hyperammonemic encephalopathy. Metabolic abnormalities include hypoglycemia, hyperlactatemia, metabolic acidosis and respiratory alkalosis." []
xref: MedGen:C3810404
xref: MedGen:CN186198
xref: MeSH:D022124
xref: MIM:615751 "phenotype"
[Term]
id: DI-04106
name: Olmsted syndrome, X-linked
def: "A rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes." []
synonym: "Mutilating palmoplantar keratoderma with periorificial keratotic plaques, X-linked" [UniProt]
synonym: "PPKMX" [UniProt]
xref: MedGen:C3806745
xref: MedGen:CN186175
xref: MeSH:D007645
xref: MIM:300918 "phenotype"
[Term]
id: DI-04107
name: Congenital anomalies of the kidney and urinary tract 1
def: "A disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children." []
synonym: "Non-syndromic renal hypodysplasia 1" [UniProt]
synonym: "Renal hypodysplasia, nonsyndromic, 1" [UniProt]
synonym: "RHDNS1" [UniProt]
xref: MedGen:C1835826
xref: MeSH:D014564
xref: MIM:610805 "phenotype"
[Term]
id: DI-04108
name: Lipodystrophy, familial partial, 7
def: "A form of partial lipodystrophy, a disorder characterized by abnormal subcutaneous fat distribution. Affected individuals manifest a gradual loss of subcutaneous adipose tissue in various parts of the body, accompanied by an accumulation of adipose tissue in the face and neck in some cases causing a double chin, fat neck, or cushingoid appearance. FPLD7 is an autosomal dominant form with a variable phenotype. Some patients manifest congenital cataracts and neurodegeneration leading to cerebellar and spinal cord dysfunction." []
synonym: "LCCNS" [UniProt]
synonym: "Lipodystrophy, partial, with congenital cataracts and neurodegeneration" [UniProt]
synonym: "Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome" [UniProt]
xref: MedGen:C1847582
xref: MeSH:D052496
xref: MIM:606721 "phenotype"
[Term]
id: DI-04109
name: Myasthenic syndrome, congenital, 8
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS8 is an autosomal recessive disease characterized by prominent defects of both the pre- and postsynaptic regions. Affected individuals have onset of muscle weakness in early childhood; the severity of the weakness and muscles affected is variable." []
synonym: "CMSPPD" [UniProt]
synonym: "Congenital myasthenic syndrome due to agrin deficiency" [UniProt]
synonym: "Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects" [UniProt]
synonym: "Myasthenic syndrome, congenital, with pre- and postsynaptic defects" [UniProt]
xref: MedGen:C3808739
xref: MedGen:CN186031
xref: MeSH:D020294
xref: MIM:615120 "phenotype"
[Term]
id: DI-04110
name: Renal hypodysplasia/aplasia 2
def: "A perinatally lethal renal disease encompassing a spectrum of kidney development defects, including renal agenesis, bilateral renal aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive uropathy." []
xref: MedGen:C3810359
xref: MedGen:CN185872
xref: MeSH:D007674
xref: MIM:615721 "phenotype"
[Term]
id: DI-04111
name: Bosch-Boonstra-Schaaf optic atrophy syndrome
def: "An autosomal dominant disorder characterized by optic atrophy associated with developmental delay and intellectual disability. Most patients also have evidence of cerebral visual impairment." []
xref: MedGen:C3810363
xref: MedGen:CN185873
xref: MeSH:D029241
xref: MIM:615722 "phenotype"
[Term]
id: DI-04112
name: Rothmund-Thomson syndrome 3
def: "A form of Rothmund-Thomson syndrome, a disorder characterized by sparse hair, eyebrows and eyelashes, juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dysplastic nails, and skeletal and dental abnormalities. RTS3 is an autosomal recessive form. RTS3 patients also exhibit microcephaly, with moderate to severe neurodevelopmental delay and seizures." []
synonym: "Short stature with microcephaly and distinctive facies" [UniProt]
synonym: "SSMCF" [UniProt]
xref: MedGen:CN187049
xref: MeSH:D004392
xref: MeSH:D008831
xref: MeSH:D019066
xref: MIM:615789 "phenotype"
[Term]
id: DI-04113
name: White sponge nevus 2
def: "A rare disorder characterized by the presence of soft, white, and spongy plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Less frequently the mucous membranes of the nose, esophagus, genitalia and rectum are involved." []
xref: MedGen:CN187048
xref: MeSH:D053529
xref: MIM:615785 "phenotype"
[Term]
id: DI-04114
name: Desbuquois dysplasia 2
def: "A chondrodysplasia characterized by severe prenatal and postnatal growth retardation (less than -5 SD), joint laxity, short extremities, progressive scoliosis, round face, midface hypoplasia, prominent bulging eyes. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advance carpal and tarsal bone age. Two forms of Desbuquois dysplasia are distinguished on the basis of the presence or absence of characteristic hand anomalies: an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and phalangeal dislocations." []
synonym: "Baratela-Scott syndrome" [UniProt]
xref: MedGen:CN186922
xref: MeSH:D004392
xref: MeSH:D007593
xref: MeSH:D019465
xref: MIM:615777 "phenotype"
[Term]
id: DI-04115
name: Primary pigmented nodular adrenocortical disease 4
def: "A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Adrenal glands show overall normal size and weight, and multiple small yellow- to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there are moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits and massive circumscribed and infiltrating extra-adrenal cortical excrescences with micronodules. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes." []
synonym: "Adrenal Cushing syndrome due to PPNAD4" [UniProt]
synonym: "Chromosome 19p13 duplication syndrome" [UniProt]
xref: MedGen:CN188261
xref: MeSH:D003480
xref: MIM:615830 "phenotype"
[Term]
id: DI-04116
name: Mitochondrial complex III deficiency, nuclear type 8
def: "A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance." []
xref: MedGen:CN188725
xref: MeSH:D017237
xref: MIM:615838 "phenotype"
[Term]
id: DI-04117
name: Immunodeficiency 23
def: "A primary immunodeficiency syndrome characterized by recurrent respiratory and skin infections beginning in early childhood, severe atopy, increased serum IgE, and developmental delay or cognitive impairment of varying severity." []
synonym: "Immunodeficiency with hyper IgE and cognitive impairment" [UniProt]
synonym: "Immunodeficiency-vasculitis-myoclonus syndrome" [UniProt]
synonym: "IVMS" [UniProt]
xref: MedGen:CN188259
xref: MeSH:D007153
xref: MIM:615816 "phenotype"
[Term]
id: DI-04118
name: Mitochondrial complex III deficiency, nuclear type 7
def: "A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. MC3DN7 is characterized by severe intrauterine growth retardation, neonatal lactic acidosis and renal tubular dysfunction. Additional clinical features include a dysmorphic facial appearance, delayed psychomotor development, autistic features, aggressive behavior, and mild sensorineural hearing loss." []
xref: MedGen:CN188214
xref: MeSH:D017237
xref: MIM:615824 "phenotype"
[Term]
id: DI-04119
name: Spermatogenic failure 13
def: "A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility." []
xref: MedGen:CN188726
xref: MeSH:D009845
xref: MeSH:D053713
xref: MIM:615841 "phenotype"
[Term]
id: DI-04120
name: Intellectual developmental disorder, autosomal dominant 26
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Additional MRD26 features include autism, short stature, microcephaly, cerebral palsy, and facial dysmorphisms." []
xref: MedGen:CN188274
xref: MeSH:D008607
xref: MIM:615834 "phenotype"
[Term]
id: DI-04121
name: Deafness, autosomal recessive, 101
def: "A form of non-syndromic deafness characterized by bilateral, moderate to severe hearing loss. Vestibular function is unaffected." []
xref: MedGen:CN188273
xref: MeSH:D006319
xref: MIM:615837 "phenotype"
[Term]
id: DI-04122
name: Vulto-van Silfout-de Vries syndrome
def: "An autosomal dominant disorder characterized by intellectual disability, poor speech, motor delay, and autistic features. Most patients have additional non-specific features, including hypotonia and gait abnormalities, seizures, which may be refractory, high pain threshold, and sleep disturbances." []
synonym: "IDDISBAS" [UniProt]
synonym: "Intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures" [UniProt]
synonym: "MRD24" [UniProt]
xref: MedGen:CN219639
xref: MeSH:D008607
xref: MIM:615828 "phenotype"
[Term]
id: DI-04123
name: Developmental and epileptic encephalopathy 21
def: "A severe disease characterized by intractable seizures, profound global developmental delay, and persistent severe axial hypotonia as well as appendicular hypertonia." []
synonym: "EIEE21" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 21" [UniProt]
xref: MedGen:CN188266
xref: MeSH:D013036
xref: MIM:615833 "phenotype"
[Term]
id: DI-04124
name: Spermatogenic failure 14
def: "A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility." []
xref: MedGen:CN188727
xref: MeSH:D009845
xref: MeSH:D053713
xref: MIM:615842 "phenotype"
[Term]
id: DI-04125
name: Xia-Gibbs syndrome
def: "An autosomal dominant disorder characterized by intellectual disability, mild dysmorphism, hypotonia, delayed psychomotor development with absent or poor expressive language, hypoplasia of the corpus callosum, simplified gyral pattern, and delayed myelination." []
synonym: "MRD25" [UniProt]
xref: MedGen:CN188260
xref: MeSH:D008607
xref: MIM:615829 "phenotype"
[Term]
id: DI-04126
name: Aicardi-Goutieres syndrome 7
def: "A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood." []
xref: MedGen:CN188935
xref: MeSH:D009421
xref: MeSH:D020274
xref: MIM:615846 "phenotype"
[Term]
id: DI-04127
name: Culler-Jones syndrome
def: "An autosomal dominant disorder characterized by a wide range of clinical manifestations. Clinical features include hypothalamic hamartoma, pituitary dysfunction, central or postaxial polydactyly, and syndactyly. Malformations are frequent in the viscera, e.g. anal atresia, bifid uvula, congenital heart malformations, pulmonary or renal dysplasia." []
synonym: "Pallister-Hall syndrome 2" [UniProt]
synonym: "PHS2" [UniProt]
xref: MedGen:CN188939
xref: MeSH:D054975
xref: MIM:615849 "phenotype"
[Term]
id: DI-04128
name: Pontocerebellar hypoplasia 2E
def: "An autosomal recessive neurodegenerative disorder characterized by progressive cerebello-cerebral atrophy, profound intellectual disability, progressive microcephaly, spasticity, and early-onset epilepsy." []
synonym: "PCCA2" [UniProt]
synonym: "Progressive cerebello-cerebral atrophy type 2" [UniProt]
xref: MedGen:CN188960
xref: MeSH:D002526
xref: MIM:615851 "phenotype"
[Term]
id: DI-04129
name: Cone-rod dystrophy 19
def: "A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors." []
xref: MedGen:CN189125
xref: MeSH:D000071700
xref: MIM:615860 "phenotype"
[Term]
id: DI-04130
name: Diarrhea 7, protein-losing enteropathy type
def: "A life-threatening disease characterized by severe, intractable, watery diarrhea." []
xref: MedGen:C4014516
xref: MeSH:D003968
xref: MIM:615863 "phenotype"
[Term]
id: DI-04131
name: Pseudohyperkalemia, familial, 2, due to red cell leak
def: "A dominantly inherited condition characterized by increased serum potassium levels, measured in whole-blood specimens stored at or below room temperature. This condition is not accompanied by clinical symptoms or biological signs except for borderline abnormalities of red cell shape." []
synonym: "Cryohydrocytosis, mild" [UniProt]
synonym: "Pseudohyperkalemia Cardiff" [UniProt]
synonym: "Pseudohyperkalemia Chiswick" [UniProt]
synonym: "Pseudohyperkalemia East London" [UniProt]
synonym: "Pseudohyperkalemia Falkirk" [UniProt]
synonym: "Pseudohyperkalemia Lille" [UniProt]
xref: MedGen:C1836705
xref: MeSH:D006947
xref: MIM:609153 "phenotype"
[Term]
id: DI-04132
name: Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
def: "An autosomal dominant disorder characterized by developmental delay, impaired intellectual development and microcephaly. Affected individuals may also have oculomotor apraxia, ocular malformations including coloboma, lens abnormalities and microphthalmia, and hypogonadotropic hypogonadism. Some patients may have finger clinodactyly and hypoplastic distal phalanges with nail hypoplasia, especially of the fifth digits." []
synonym: "Coffin-Siris syndrome 9" [UniProt]
synonym: "CSS9" [UniProt]
synonym: "MRD27" [UniProt]
xref: MedGen:CN189149
xref: MeSH:D008607
xref: MIM:615866 "phenotype"
[Term]
id: DI-04133
name: Nephrotic syndrome 10
def: "A form of nephrotic syndrome, a renal disease clinically characterized by focal segmental glomerulosclerosis, progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. NPHS10 is a steroid-sensitive form characterized by onset in childhood and remission without end-stage kidney disease." []
xref: MedGen:CN189148
xref: MeSH:D009404
xref: MIM:615861 "phenotype"
[Term]
id: DI-04134
name: Nephronophthisis 18
def: "An autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease in early childhood. Extrarenal manifestations, including intellectual disability or liver changes, may occur in some patients." []
xref: MedGen:CN189146
xref: MeSH:D052177
xref: MIM:615862 "phenotype"
[Term]
id: DI-04135
name: Developmental and epileptic encephalopathy 23
def: "A severe disease characterized by early-onset intractable epilepsy, dysmorphic features, intellectual disability, and cortical blindness. Brain imaging shows an abnormally marked pontobulbar sulcus with mild pontine hypoplasia, white matter abnormalities, and atrophy in the occipital lobe." []
synonym: "EIEE23" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 23" [UniProt]
xref: MedGen:CN189147
xref: MeSH:D013036
xref: MIM:615859 "phenotype"
[Term]
id: DI-04136
name: Tumor predisposition syndrome 3
def: "An autosomal dominant disorder characterized by an increased risk for the development of various types of benign and malignant neoplasms throughout life, with age-dependent penetrance. Affected individuals can develop neoplasms involving epithelial, mesenchymal, and neuronal tissues, as well as lymphoid and myeloid cancers. The disorder is associated with elongated telomeres." []
synonym: "CMM10" [UniProt]
synonym: "Glioma 9" [UniProt]
synonym: "GLM9" [UniProt]
synonym: "Long telomere syndrome, POT1-related" [UniProt]
synonym: "Melanoma, cutaneous malignant 10" [UniProt]
xref: MedGen:CN189144
xref: MeSH:D008545
xref: MIM:615848 "phenotype"
[Term]
id: DI-04137
name: Spastic ataxia 1, autosomal dominant
def: "An autosomal dominant form of spastic ataxia, a progressive neurodegenerative disorder characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance." []
xref: MedGen:C1970107
xref: MeSH:D002524
xref: MIM:108600 "phenotype"
[Term]
id: DI-04138
name: Arthrogryposis, distal, 3
def: "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA3 features include short stature and cleft palate." []
synonym: "Arthrogryposis multiplex congenita, distal, type IIA" [UniProt]
synonym: "Camptodactyly, cleft palate, and clubfoot" [UniProt]
synonym: "Gordon syndrome" [UniProt]
xref: MedGen:C0220666
xref: MeSH:D001176
xref: MIM:114300 "phenotype"
[Term]
id: DI-04139
name: Giant axonal neuropathy 2, autosomal dominant
def: "An autosomal dominant peripheral axonal neuropathy characterized by onset of distal sensory impairment with lower extremity muscle weakness and atrophy after the second decade. Clinical features include foot deformities apparent in childhood, and cardiomyopathy in severely affected individuals. Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation." []
synonym: "HMSN2 with neurofilament accumulations and infrequent giant axons" [UniProt]
xref: MedGen:C1864695
xref: MeSH:D015417
xref: MIM:610100 "phenotype"
[Term]
id: DI-04140
name: Marden-Walker syndrome
def: "A syndrome characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, kyphoscoliosis, pectus excavatum or carinatum, and arachnodactyly. Additional features include decreased muscular mass, failure to thrive, renal anomalies, hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna, and psychomotor retardation." []
synonym: "MWS" [UniProt]
xref: MedGen:C0796033
xref: MeSH:D003240
xref: MeSH:D016569
xref: MeSH:D054119
xref: MIM:248700 "phenotype"
[Term]
id: DI-04141
name: Neu-Laxova syndrome 1
def: "A lethal, autosomal recessive multiple malformation syndrome characterized by ichthyosis, marked intrauterine growth restriction, microcephaly, short neck, limb deformities, hypoplastic lungs, edema, and central nervous system anomalies including lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum. Abnormal facial features include severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears." []
xref: MedGen:C0265218
xref: MeSH:D001927
xref: MeSH:D005317
xref: MeSH:D007057
xref: MeSH:D008831
xref: MeSH:D017880
xref: MIM:256520 "phenotype"
[Term]
id: DI-04142
name: Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs
def: "A syndrome characterized by dislocated crystalline lenses and anterior segment abnormalities in association with a distinctive facies involving flat cheeks and a beaked nose. Some affected individuals develop highly unusual non-traumatic conjunctival cysts (filtering blebs)." []
synonym: "Ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism" [UniProt]
synonym: "Shawaf-Traboulsi syndrome" [UniProt]
synonym: "Traboulsi syndrome" [UniProt]
xref: MedGen:C1832167
xref: MeSH:D004479
xref: MeSH:D019465
xref: MIM:601552 "phenotype"
[Term]
id: DI-04143
name: Muscular dystrophy, limb-girdle, autosomal dominant 2
def: "An autosomal dominant myopathy characterized by proximal muscle weakness primarily affecting the lower limbs, but also affecting the upper limbs in most patients. Affected individuals also have distal muscle weakness of the hands and lower leg muscles. The disease has generally a benign clinical course but some individuals with childhood or juvenile onset manifest severe widespread myopathy, leading to wheelchair dependency and respiratory insufficiency. Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions." []
synonym: "LGMD1F" [UniProt]
synonym: "Limb-girdle muscular dystrophy 1F" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 1F" [UniProt]
xref: MedGen:C1842062
xref: MeSH:D049288
xref: MIM:608423 "phenotype"
[Term]
id: DI-04144
name: Ciliary dyskinesia, primary, 29
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD29 patients do not exhibit situs inversus, a congenital abnormality in which visceral organs are opposite to their normal positions (situs solitus) due to lateral transposition." []
synonym: "Primary ciliary dyskinesia without situs inversus" [UniProt]
xref: MedGen:CN189713
xref: MeSH:D007619
xref: MIM:615872 "phenotype"
[Term]
id: DI-04145
name: Developmental and epileptic encephalopathy 24
def: "A disease characterized by early-onset seizures, intellectual disability of varying degrees, and behavioral disturbances or autistic features in most individuals." []
synonym: "EIEE24" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 24" [UniProt]
xref: MedGen:CN189553
xref: MeSH:D013036
xref: MIM:615871 "phenotype"
[Term]
id: DI-04146
name: Microphthalmia/coloboma and skeletal dysplasia syndrome
def: "A disease characterized by bilateral colobomatous microphthalmia or bilateral anophthalmia, associated with skeletal dysplasia in some cases. Additional ocular findings include microcornea, cataracts, corectopia and nystagmus. Intellectual disability is present in some patients." []
synonym: "MCOPS14" [UniProt]
synonym: "Microphthalmia and/or coloboma, with or without rhizomelic skeletal dysplasia" [UniProt]
synonym: "Microphthalmia, syndromic, 14" [UniProt]
xref: MedGen:CN189715
xref: MeSH:D008850
xref: MIM:615877 "phenotype"
[Term]
id: DI-04147
name: Myopathy, tubular aggregate, 2
def: "A rare congenital myopathy characterized by regular arrays of membrane tubules on muscle biopsies without additional histopathological hallmarks. Tubular aggregates in muscle are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. TAM2 patients have myopathy and pupillary abnormalities." []
xref: MedGen:CN189718
xref: MeSH:D020914
xref: MIM:615883 "phenotype"
[Term]
id: DI-04148
name: Hypotrichosis 12
def: "A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT12 patients have normal scalp hair density at birth. Hair loss begins during the first 6 months of life and gradually progresses to nearly complete loss of scalp hair. The remaining hairs grow slowly and are thin, sparse, dry, and fragile. Body hair, axillary and pubic hair, eyebrows and eyelashes are also sparse or absent. HYPT12 inheritance is autosomal dominant." []
xref: MedGen:CN189719
xref: MeSH:D007039
xref: MIM:615885 "phenotype"
[Term]
id: DI-04149
name: Helsmoortel-van der Aa syndrome
def: "A disorder characterized by intellectual disability, autism spectrum disorder, and dysmorphic facial features including prominent forehead, high hairline, downslanting palpebral fissures, notched eyelids, broad nasal bridge, thin upper lip, and smooth philtrum." []
synonym: "MRD28" [UniProt]
xref: MedGen:CN189714
xref: MeSH:D008607
xref: MIM:615873 "phenotype"
[Term]
id: DI-04150
name: Bleeding disorder, platelet-type, 18
def: "A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia." []
xref: MedGen:CN189800
xref: MeSH:D001791
xref: MeSH:D006470
xref: MIM:615888 "phenotype"
[Term]
id: DI-04151
name: Tatton-Brown-Rahman syndrome
def: "An overgrowth syndrome characterized by a distinctive facial appearance, tall stature and intellectual disability. Facial gestalt is characterized by a round face, heavy horizontal eyebrows and narrow palpebral fissures. Less common features include atrial septal defects, seizures, umbilical hernia, and scoliosis." []
synonym: "DNMT3A overgrowth syndrome" [UniProt]
xref: MedGen:CN189716
xref: MeSH:D006130
xref: MeSH:D008607
xref: MIM:615879 "phenotype"
[Term]
id: DI-04152
name: Cholestasis, progressive familial intrahepatic, 4
def: "A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC4 inheritance is autosomal recessive." []
xref: MedGen:C2931067
xref: MeSH:D002780
xref: MIM:615878 "phenotype"
[Term]
id: DI-04153
name: Amelogenesis imperfecta, hypomaturation type, 2A5
def: "A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel." []
xref: MedGen:CN191988
xref: MeSH:D000567
xref: MIM:615887 "phenotype"
[Term]
id: DI-04154
name: Primrose syndrome
def: "A disease characterized by macrocephaly, intellectual disability, disturbed behavior, dysmorphic facial features, ectopic calcifications, large calcified ear auricles, and progressive muscle wasting." []
synonym: "Ossified ear cartilages with mental deficiency, muscle wasting, and bony changes" [UniProt]
xref: MedGen:C0796121
xref: MeSH:D002114
xref: MeSH:D008607
xref: MeSH:D009133
xref: MIM:259050 "phenotype"
[Term]
id: DI-04155
name: Stormorken syndrome
def: "A rare autosomal dominant disease characterized by mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis." []
synonym: "Thrombocytopathy, asplenia, and miosis" [UniProt]
synonym: "York platelet syndrome" [UniProt]
synonym: "YPS" [UniProt]
xref: MedGen:C1850709
xref: MeSH:D001791
xref: MeSH:D007057
xref: MeSH:D015877
xref: MeSH:D020914
xref: MIM:185070 "phenotype"
[Term]
id: DI-04156
name: Intellectual developmental disorder, X-linked 100
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. XLID100 clinical features include intellectual disability, epilepsy, microcephaly and cortical malformations." []
synonym: "MRX100" [UniProt]
xref: MedGen:CN197010
xref: MeSH:D038901
xref: MIM:300923 "phenotype"
[Term]
id: DI-04157
name: Polyglucosan body myopathy 1 with or without immunodeficiency
def: "A disease characterized by polyglucosan storage myopathy associated with early-onset progressive muscle weakness and progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. Some patients present with severe immunodeficiency, invasive bacterial infections and chronic autoinflammation." []
synonym: "PBMEI" [UniProt]
synonym: "Polyglucosan body myopathy, early-onset, with or without immunodeficiency" [UniProt]
xref: MedGen:CN196923
xref: MeSH:D009202
xref: MeSH:D018908
xref: MIM:615895 "phenotype"
[Term]
id: DI-04158
name: Hypotrichosis 13
def: "A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT13 is an autosomal dominant form characterized by sparse woolly hair." []
synonym: "Hypotrichosis with woolly hair" [UniProt]
xref: MedGen:CN196687
xref: MeSH:D007039
xref: MIM:615896 "phenotype"
[Term]
id: DI-04159
name: Immunodeficiency 24
def: "A life-threatening immunodeficiency, characterized by an impaired capacity of activated T and B cells to proliferate in response to antigen receptor-mediated activation. Patients have early onset of severe chronic viral infections, mostly caused by herpes viruses, including EBV and varicella zooster virus (VZV), and also suffer from recurrent encapsulated bacterial infections, a spectrum of infections typical of a combined deficiency of adaptive immunity." []
xref: MedGen:CN196688
xref: MeSH:D007153
xref: MIM:615897 "phenotype"
[Term]
id: DI-04160
name: Lymphatic malformation 4
def: "A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM4 is an autosomal dominant form with onset at birth or in early childhood. Affected individuals manifest lymphedema of lower limbs with prominent veins, and impaired lymphatic uptake and drainage. Additional features are nail dysplasia, skin hyperkeratosis and papillomatosis." []
synonym: "Hereditary lymphedema ID" [UniProt]
synonym: "LMPH1D" [UniProt]
synonym: "Lymphedema, hereditary, 1D" [UniProt]
xref: MedGen:CN197013
xref: MeSH:D008209
xref: MIM:615907 "phenotype"
[Term]
id: DI-04161
name: Diamond-Blackfan anemia 13
def: "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies." []
xref: MedGen:CN197014
xref: MeSH:D029503
xref: MIM:615909 "phenotype"
[Term]
id: DI-04162
name: Bardet-Biedl syndrome 19
def: "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease." []
xref: MedGen:CN220296
xref: MeSH:D020788
xref: MIM:615996 "phenotype"
[Term]
id: DI-04163
name: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
def: "A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis." []
xref: MedGen:CN197015
xref: MeSH:D000690
xref: MeSH:D057174
xref: MIM:615911 "phenotype"
[Term]
id: DI-04164
name: Atrial fibrillation, familial, 17
def: "A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure." []
xref: MedGen:CN196901
xref: MeSH:D001281
xref: MIM:611819 "phenotype"
[Term]
id: DI-04165
name: Atrial fibrillation, familial, 16
def: "A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure." []
xref: MedGen:CN220307
xref: MeSH:D001281
xref: MIM:613120 "phenotype"
[Term]
id: DI-04166
name: Ectodermal dysplasia 7, hair/nail type
def: "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. Ectodermal dysplasia of the hair/nail type is characterized by hypotrichosis and nail dystrophy without non-ectodermal or other ectodermal manifestations." []
xref: MedGen:C3554117
xref: MedGen:CN160609
xref: MeSH:D004476
xref: MIM:614929 "phenotype"
[Term]
id: DI-04167
name: Spondylometaphyseal dysplasia, Sedaghatian type
def: "A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDS is a neonatal lethal form characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, cardiac conduction defects, and central nervous system abnormalities." []
synonym: "Congenital lethal metaphyseal chondrodysplasia" [UniProt]
synonym: "Sedaghatian chondrodysplasia" [UniProt]
xref: MedGen:C1855229
xref: MeSH:D010009
xref: MIM:250220 "phenotype"
[Term]
id: DI-04168
name: Anterior segment dysgenesis 7
def: "A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD7 is an autosomal recessive disease." []
synonym: "COPOA" [UniProt]
synonym: "Corneal opacification with other ocular anomalies" [UniProt]
synonym: "Sclerocornea with other ocular anomalies" [UniProt]
xref: MedGen:C1853235
xref: MeSH:D003316
xref: MIM:269400 "phenotype"
[Term]
id: DI-04169
name: Microphthalmia, syndromic, 13
def: "A form of microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS13 patients exhibit colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation." []
synonym: "Colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation" [UniProt]
synonym: "Maine microphthalmos" [UniProt]
xref: MedGen:C3806742
xref: MedGen:CN184217
xref: MeSH:D008850
xref: MIM:300915 "phenotype"
[Term]
id: DI-04170
name: Deafness, autosomal recessive, 44
def: "A form of non-syndromic deafness characterized by prelingual profound hearing loss affecting all frequencies." []
xref: MedGen:C1857809
xref: MeSH:D006319
xref: MIM:610154 "phenotype"
[Term]
id: DI-04171
name: Cataract 42
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function." []
xref: MedGen:C1861830
xref: MeSH:D002386
xref: MIM:115900 "phenotype"
[Term]
id: DI-04172
name: Cardiomyopathy, dilated, 1NN
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death." []
xref: MedGen:CN219641
xref: MeSH:D002311
xref: MIM:615916 "phenotype"
[Term]
id: DI-04173
name: Combined oxidative phosphorylation deficiency 21
def: "A mitochondrial disorder characterized by a lethal encephalomyopathy. Shortly after birth, affected individuals manifest axial hypotonia, limb hypertonia, psychomotor delay, and increased serum lactate. Additional features include subsarcolemmal lipofuscin-positive deposits in muscle, cerebral spongiosis, and hepatic steatosis." []
xref: MedGen:CN197314
xref: MeSH:D028361
xref: MIM:615918 "phenotype"
[Term]
id: DI-04174
name: Encephalopathy, progressive, with or without lipodystrophy
def: "A neurodegenerative disease characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade, hyperactive behavior, seizures, tremor and ataxic gait. Patients may show a mild or typical lipodystrophic appearance." []
xref: MedGen:CN207619
xref: MeSH:D020271
xref: MIM:615924 "phenotype"
[Term]
id: DI-04175
name: Webb-Dattani syndrome
def: "A disorder characterized by postnatal microcephaly with fronto- temporal lobe hypoplasia, multiple pituitary hormone deficiency, global developmental delay, seizures, severe visual impairment and abnormalities of the kidneys and urinary tract." []
synonym: "Hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies" [UniProt]
xref: MedGen:CN207526
xref: MeSH:D007018
xref: MeSH:D008831
xref: MIM:615926 "phenotype"
[Term]
id: DI-04176
name: Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta
def: "An autosomal recessive disease characterized by subclinical seizures appearing in the first days of life, evolving to severe epileptic disease. Affected individuals have profound or severe delayed development with lack of speech, and most patients do not acquire the ability to sit. Additional variable features include axial hypotonia, peripheral hypertonia, and abnormal involuntary movements such as dystonia and choreoathetosis. Dental abnormalities, including delayed eruption, hypodontia, tooth hypoplasia, yellow discoloration, thin enamel, and enamel chipping are observed in most patients." []
synonym: "EIEE25" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta" [UniProt]
xref: MedGen:CN197173
xref: MeSH:D013036
xref: MIM:615905 "phenotype"
[Term]
id: DI-04177
name: Retinitis pigmentosa 70
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:CN207510
xref: MeSH:D012174
xref: MIM:615922 "phenotype"
[Term]
id: DI-04178
name: Epiphyseal chondrodysplasia, Miura type
def: "An overgrowth syndrome characterized by tall stature, long hands and feet with arachnodactyly, macrodactyly of the great toes, scoliosis, coxa valga and slipped capital femoral epiphysis." []
xref: MedGen:CN207511
xref: MeSH:D006130
xref: MeSH:D017880
xref: MIM:615923 "phenotype"
[Term]
id: DI-04179
name: STING-associated vasculopathy, infantile-onset
def: "An autoinflammatory disease characterized by early-onset systemic inflammation and cutaneous vasculopathy, resulting in severe skin lesions. Violaceous, scaling lesions of fingers, toes, nose, cheeks and ears progress to acral necrosis in most of the patients. Some patients have severe interstitial lung disease." []
synonym: "Autoinflammatory-vasculopathy syndrome" [UniProt]
xref: MedGen:CN207620
xref: MeSH:D017445
xref: MeSH:D056660
xref: MIM:615934 "phenotype"
[Term]
id: DI-04180
name: Ataxia-telangiectasia-like disorder 2
def: "A neurodegenerative disorder due to defects in DNA excision repair. ATLD2 is characterized by developmental delay, ataxia, sensorineural hearing loss, short stature, cutaneous and ocular telangiectasia, and photosensitivity." []
xref: MedGen:CN197312
xref: MeSH:D001259
xref: MeSH:D049914
xref: MIM:615919 "phenotype"
[Term]
id: DI-04181
name: Combined oxidative phosphorylation deficiency 20
def: "A disorder due to mitochondrial respiratory chain complex defects. Clinical features are variable and include muscle weakness with hypotonia, central neurological disease with progressive external ophthalmoplegia, ptosis and ataxia, delayed psychomotor development, cardiomyopathy, abnormal liver function, facial dysmorphism, microcephaly and epilepsy." []
xref: MedGen:CN219640
xref: MeSH:D028361
xref: MIM:615917 "phenotype"
[Term]
id: DI-04182
name: Pancreatic agenesis 2
def: "A disease characterized by isolated hypoplasia or agenesis of the pancreas, pancreatic beta-cell failure resulting in neonatal insulin- dependent diabetes mellitus, and exocrine pancreatic insufficiency." []
synonym: "Congenital pancreatic hypoplasia 2" [UniProt]
xref: MedGen:CN207621
xref: MeSH:D003920
xref: MeSH:D010188
xref: MIM:615935 "phenotype"
[Term]
id: DI-04183
name: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
def: "A syndrome characterized by megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly- capillary malformation syndrome." []
xref: MedGen:CN207693
xref: MeSH:D006849
xref: MeSH:D017689
xref: MeSH:D054220
xref: MeSH:D058627
xref: MIM:615937 "phenotype"
[Term]
id: DI-04184
name: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
def: "A syndrome characterized by megalencephaly, ventriculomegaly that may lead to hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome." []
xref: MedGen:CN207694
xref: MeSH:D006849
xref: MeSH:D017689
xref: MeSH:D054220
xref: MeSH:D058627
xref: MIM:615938 "phenotype"
[Term]
id: DI-04185
name: Myopia 24, autosomal dominant
def: "A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far." []
xref: MedGen:CN207695
xref: MeSH:D009216
xref: MIM:615946 "phenotype"
[Term]
id: DI-04186
name: Intellectual developmental disorder, X-linked 101
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. XLID101 clinical features include global developmental delay, hyperactivity often with aggressive outbursts, and seizures in some patients. Several affected individuals have long face, prominent ears, and squint or strabismus." []
synonym: "MRX101" [UniProt]
xref: MedGen:CN207618
xref: MeSH:D038901
xref: MIM:300928 "phenotype"
[Term]
id: DI-04187
name: Steel syndrome
def: "A syndrome characterized by dislocated hips and radial heads, fusion of carpal bones, short stature, scoliosis, and cervical spine anomalies. Facial features include prominent forehead, long oval- shaped face, hypertelorism and broad nasal bridge." []
synonym: "Dislocated hips and radial heads, carpal coalition, scoliosis, and short stature" [UniProt]
xref: MedGen:C3554594
xref: MedGen:CN168955
xref: MeSH:D004392
xref: MeSH:D006228
xref: MeSH:D006617
xref: MeSH:D012600
xref: MIM:615155 "phenotype"
[Term]
id: DI-04188
name: Spinocerebellar ataxia 34
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA34 is an autosomal dominant form characterized by the association of progressive cerebellar ataxia with erythrokeratodermia variabilis." []
synonym: "Erythrokeratodermia with ataxia" [UniProt]
xref: MedGen:C1851481
xref: MeSH:D020754
xref: MeSH:D056266
xref: MIM:133190 "phenotype"
[Term]
id: DI-04189
name: Cone-rod dystrophy 20
def: "A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors." []
xref: MedGen:CN219005
xref: MeSH:D058499
xref: MIM:615973 "phenotype"
[Term]
id: DI-04190
name: Deafness, autosomal recessive, 102
def: "A form of non-syndromic deafness characterized by profound hearing loss affecting all frequencies. Vestibular function is unaffected." []
xref: MedGen:CN219004
xref: MeSH:D006319
xref: MIM:615974 "phenotype"
[Term]
id: DI-04191
name: Leukoencephalopathy, progressive, with ovarian failure
def: "An autosomal recessive neurodegenerative disorder characterized by childhood- to adulthood-onset of signs of neurologic deterioration consisting of ataxia, spasticity, and cognitive decline with features of frontal lobe dysfunction. Brain MRI shows leukoencephalopathy with striking involvement of deep white matter, and cerebellar atrophy. All female patients develop premature ovarian failure." []
xref: MedGen:CN197313
xref: MeSH:D016649
xref: MeSH:D056784
xref: MIM:615889 "phenotype"
[Term]
id: DI-04192
name: Intellectual developmental disorder, autosomal recessive 44
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT44 manifestations include mild to severe cognitive impairment, delayed psychomotor development, seizures in some patients, and dysmorphic features." []
xref: MedGen:CN207815
xref: MeSH:D008607
xref: MIM:615942 "phenotype"
[Term]
id: DI-04193
name: Hyperlipoproteinemia 1D
def: "An autosomal recessive disorder characterized by hyperlipoproteinemia, decreased plasma LPL levels in some patients, high plasma triglyceride levels, and refractory fasting chylomicronemia." []
synonym: "Hyperlipoproteinemia, type ID" [UniProt]
xref: MedGen:CN207817
xref: MeSH:D008072
xref: MIM:615947 "phenotype"
[Term]
id: DI-04194
name: Autoimmune disease, multisystem, infantile-onset, 1
def: "A disorder characterized by early childhood onset of a spectrum of autoimmune manifestations affecting multiple organs, including insulin-dependent diabetes mellitus and autoimmune enteropathy or celiac disease. Other features include short stature, non-specific dermatitis, hypothyroidism, autoimmune arthritis, and delayed puberty." []
xref: MedGen:CN207828
xref: MeSH:D001327
xref: MIM:615952 "phenotype"
[Term]
id: DI-04195
name: ACTH-independent macronodular adrenal hyperplasia 2
def: "A form of macronodular adrenal hyperplasia characterized by multiple, bilateral, non-pigmented, benign, adrenocortical nodules. It results in excessive production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes." []
synonym: "Primary macronodular adrenal hyperplasia" [UniProt]
xref: MedGen:CN207837
xref: MeSH:D003480
xref: MIM:615954 "phenotype"
[Term]
id: DI-04196
name: Spinocerebellar ataxia 38
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA38 is an autosomal dominant form characterized by adult-onset of slowly progressive gait ataxia accompanied by nystagmus. Brain MRI shows cerebellar atrophy." []
xref: MedGen:CN218416
xref: MeSH:D020754
xref: MIM:615957 "phenotype"
[Term]
id: DI-04197
name: Poretti-Boltshauser syndrome
def: "An autosomal recessive disorder characterized by cerebellar dysplasia, cerebellar vermis atrophy, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities including strabismus, ocular apraxia, nystagmus. Affected individuals have ataxia, delayed motor development, language impairment, and intellectual disability with variable severity." []
xref: MedGen:CN218429
xref: MeSH:D002526
xref: MeSH:D015835
xref: MeSH:D019954
xref: MIM:615960 "phenotype"
[Term]
id: DI-04198
name: Acid-labile subunit deficiency
def: "A disorder characterized by severely reduced serum IGF-I and IGFBP-3 concentrations and mild growth retardation. Pubertal delay in boys and insulin insensitivity are common findings." []
xref: MedGen:CN069120
xref: MeSH:D006130
xref: MIM:615961 "phenotype"
[Term]
id: DI-04199
name: Vesicoureteral reflux 8
def: "A disease belonging to the group of congenital anomalies of the kidney and urinary tract. It is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys, and is a risk factor for urinary tract infections. Primary disease results from a developmental defect of the ureterovesical junction. In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy. Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, renal insufficiency and end-stage renal disease." []
xref: MedGen:CN218430
xref: MeSH:D014718
xref: MIM:615963 "phenotype"
[Term]
id: DI-04200
name: Immunodeficiency 26 with or without neurologic abnormalities
def: "A form of severe combined immunodeficiency characterized by reduced or absent T and B cells, recurrent candidiasis, and lower respiratory tract infections. Some patients show dysmorphic features, severe growth failure, microcephaly, seizures, and impaired neurological functions." []
xref: MedGen:CN218441
xref: MeSH:D007153
xref: MIM:615966 "phenotype"
[Term]
id: DI-04201
name: Orofaciodigital syndrome 14
def: "A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD14 patients show severe microcephaly, cerebral malformations the molar tooth sign, and intellectual disability in addition to canonical OFDS features." []
xref: MedGen:CN207829
xref: MeSH:D009958
xref: MIM:615948 "phenotype"
[Term]
id: DI-04202
name: Aplasia cutis congenita, non-syndromic
def: "A disorder characterized by congenital absence of a portion of skin in a localized or widespread area of the body. The lesions are most commonly localized on the scalp, however aplasia cutis congenita can affect any part of the body." []
synonym: "Congenital defect of skull and scalp" [UniProt]
synonym: "Congenital scalp defect" [UniProt]
xref: MedGen:C0282160
xref: MedGen:C2931779
xref: MeSH:D004476
xref: MIM:107600 "phenotype"
[Term]
id: DI-04203
name: Acromelic frontonasal dysostosis
def: "A rare variant form of frontonasal dysplasia, an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism, broadening of the nasal root, median facial cleft affecting the nose and/or upper lip and palate, unilateral or bilateral clefting of the alae nasi, lack of formation of the nasal tip, anterior cranium bifidum occultum, a V- shaped or widow's peak frontal hairline. AFND is characterized by the association of frontonasal malformations with various combinations of polydactyly, tibial hypoplasia, epibulbar dermoid, encephalocoele, corpus callosum agenesis and Dandy-Walker malformation." []
xref: MedGen:C1863616
xref: MeSH:D000013
xref: MIM:603671 "phenotype"
[Term]
id: DI-04204
name: Alpha-fetoprotein deficiency
def: "A benign condition characterized by undetectable AFP levels in the amniotic fluid. Affected individuals are asymptomatic and present normal development." []
xref: MedGen:C1863081
xref: MeSH:D008661
xref: MIM:615969 "phenotype"
[Term]
id: DI-04205
name: Alpha-fetoprotein, hereditary persistence
def: "A benign autosomal dominant condition characterized by continued expression of alpha-fetoprotein in adult life." []
xref: MedGen:C1863080
xref: MeSH:D008661
xref: MIM:615970 "phenotype"
[Term]
id: DI-04206
name: Sneddon syndrome
def: "An autosomal recessive, systemic non-inflammatory thrombotic vasculopathy characterized by the association of livedo racemosa, and in some cases livedo reticularis, with cerebrovascular disease. Livedo racemosa is a persistent net-like violaceous-cyanotic, mottled discoloration of the skin affecting the legs, the arms, the buttocks and the trunk; livedo reticularis is limited to the extremities and is visible only in the cold. Cerebrovascular features include recurrent transient ischemic attacks, infarcts, and rarely spinal strokes or intracranial or subarachnoid hemorrhages. Headache and vertigo may precede the onset of livedo racemosa and cerebrovascular manifestations by several years. Rare neurologic symptoms include seizures, chorea, or myelopathies." []
synonym: "Livedo reticularis and cerebrovascular accidents" [UniProt]
xref: MedGen:C0282492
xref: MeSH:D018860
xref: MIM:182410 "phenotype"
[Term]
id: DI-04207
name: Pettigrew syndrome
def: "An X-linked syndrome characterized by intellectual disability and additional highly variable features, including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain. Intellectual disability is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
synonym: "MRX59" [UniProt]
synonym: "MRXS21" [UniProt]
synonym: "MRXS5" [UniProt]
synonym: "MRXSF" [UniProt]
xref: MedGen:C0796254
xref: MeSH:D038901
xref: MIM:304340 "phenotype"
[Term]
id: DI-04208
name: Amelogenesis imperfecta 1G
def: "A disorder characterized by dental anomalies, gingival overgrowth, and nephrocalcinosis. Dental anomalies include hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies and unerupted teeth." []
synonym: "AIGFS" [UniProt]
synonym: "Amelogenesis imperfecta and gingival fibromatosis syndrome" [UniProt]
synonym: "Enamel-renal syndrome" [UniProt]
synonym: "Enamel-renal-gingival syndrome" [UniProt]
synonym: "ERS" [UniProt]
synonym: "Hypoplastic amelogenesis imperfecta with nephrocalcinosis" [UniProt]
xref: MedGen:C2931783
xref: MeSH:D000567
xref: MeSH:D005351
xref: MIM:204690 "phenotype"
[Term]
id: DI-04209
name: Nanophthalmos 4
def: "A rare disorder of eye development characterized by extreme hyperopia (farsightedness) and small functional eyes. The cornea and lens are normal in size and shape. Hyperopia occurs because insufficient growth along the visual axis places these lensing components too close to the retina. Nanophthalmic eyes show considerable thickening of both the choroidal vascular bed and scleral coat, which provide nutritive and structural support for the retina." []
synonym: "Nanophthalmia 4" [UniProt]
xref: MedGen:CN218525
xref: MeSH:D008850
xref: MIM:615972 "phenotype"
[Term]
id: DI-04210
name: Myopathy, centronuclear, 5
def: "A form of centronuclear myopathy, a congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. CNM5 features include severe neonatal hypotonia with respiratory insufficiency, difficulty feeding, and delayed motor development. Some patients die in infancy, and some develop dilated cardiomyopathy." []
xref: MedGen:CN218417
xref: MeSH:D020914
xref: MIM:615959 "phenotype"
[Term]
id: DI-04211
name: Muscular dystrophy, limb-girdle, autosomal dominant 3
def: "An autosomal dominant degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMDD3 is characterized by a mild late-onset and is associated with progressive fingers and toes flexion limitation. Affected individuals may also develop cataracts before age 50." []
synonym: "LGMD1G" [UniProt]
synonym: "Limb-girdle muscular dystrophy 1G" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 1G" [UniProt]
xref: MedGen:C1836765
xref: MeSH:D049288
xref: MIM:609115 "phenotype"
[Term]
id: DI-04212
name: Hypermanganesemia with dystonia 1
def: "A metabolic autosomal recessive disorder characterized by dystonia, parkinsonism, extrapyramidal signs, severe hypermanganesemia, polycythemia, and chronic hepatic disease, including steatosis and cirrhosis." []
synonym: "HMDPC" [UniProt]
synonym: "Hypermanganesemia with dystonia, polycythemia, and cirrhosis" [UniProt]
xref: MedGen:C2750442
xref: MeSH:D008659
xref: MIM:613280 "phenotype"
[Term]
id: DI-04213
name: Trichomegaly
def: "A morphologic trait characterized by unusually long eyelashes and mild hypertrichosis of eyebrows. It can be observed in association with corneal irritation, cataracts, and hereditary spherocytosis." []
synonym: "Goldstein Hutt syndrome" [UniProt]
synonym: "Long eyelashes" [UniProt]
synonym: "Movie lashes" [UniProt]
xref: MedGen:C0854699
xref: MeSH:D005128
xref: MIM:190330 "phenotype"
[Term]
id: DI-04214
name: Coloboma, ocular, autosomal recessive
def: "An ocular anomaly resulting from abnormal morphogenesis of the optic cup and stalk, and incomplete fusion of the fetal intra-ocular fissure during gestation. The clinical presentation is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even anophthalmia." []
xref: MedGen:CN074221
xref: MeSH:D003103
xref: MIM:216820 "phenotype"
[Term]
id: DI-04215
name: Immunodeficiency 36 with lymphoproliferation
def: "A primary immunodeficiency characterized by impaired B-cell function, hypogammaglobulinemia and recurrent infections." []
xref: MedGen:CN219437
xref: MeSH:D007153
xref: MIM:616005 "phenotype"
[Term]
id: DI-04216
name: Aplasia or hypoplasia of the breasts and/or nipples 2
def: "A group of congenital deformities encompassing total absence of breasts and nipple (amastia), absence of the nipple (athelia), and absence of the mammary gland (amazia)." []
xref: MedGen:CN219250
xref: MeSH:D000013
xref: MeSH:D001941
xref: MIM:616001 "phenotype"
[Term]
id: DI-04217
name: Focal segmental glomerulosclerosis 7
def: "A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation." []
xref: MedGen:CN219277
xref: MeSH:D005923
xref: MIM:616002 "phenotype"
[Term]
id: DI-04218
name: Dysfibrinogenemia, congenital
def: "A disorder characterized by qualitative abnormalities (dysfibrinogenemia) of the circulating fibrinogen. Affected individuals are frequently asymptomatic, but some patients have bleeding diathesis, thromboembolic complications, or both. In some cases, dysfibrinogenemia is associated with low circulating fibrinogen levels (hypodysfibrinogenemia)." []
synonym: "Hypodysfibrinogenemia, congenital" [UniProt]
xref: MedGen:C0272350
xref: MeSH:D025861
xref: MIM:616004 "phenotype"
[Term]
id: DI-04219
name: Lipodystrophy, familial partial, 6
def: "A form of lipodystrophy characterized by abnormal subcutaneous fat distribution. Affected individuals have increased visceral fat, impaired lipolysis, dyslipidemia, hepatic steatosis, systemic insulin resistance, and diabetes. Some patients manifest muscular dystrophy." []
xref: MedGen:CN219208
xref: MeSH:D024821
xref: MIM:615980 "phenotype"
[Term]
id: DI-04220
name: Intellectual developmental disorder, autosomal recessive 45
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT45 manifestations include mild to moderate intellectual disability and dysmorphic features, including coarse facies, broad nasal bridge, fleshy nares, and thick, prominent lips." []
xref: MedGen:CN219207
xref: MeSH:D008607
xref: MIM:615979 "phenotype"
[Term]
id: DI-04221
name: Immunodeficiency 28
def: "A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD28 is an autosomal recessive disease that manifests early in life, with severe, often fatal, infection." []
synonym: "IFNGR2 deficiency" [UniProt]
synonym: "Immunodeficiency 28, mycobacteriosis, autosomal recessive" [UniProt]
xref: MedGen:CN219202
xref: MeSH:D007153
xref: MeSH:D009165
xref: MIM:614889 "phenotype"
[Term]
id: DI-04222
name: Immunodeficiency 29
def: "A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD29 is characterized by undetectable IL12B secretion from leukocytes. Affected individuals generally present with BCG disease after vaccination in childhood, and at least half also have Salmonella infection. Disease phenotype is relatively mild, and patients have a good prognosis." []
synonym: "IL12B deficiency" [UniProt]
synonym: "Immunodeficiency 29, mycobacteriosis" [UniProt]
xref: MedGen:CN219203
xref: MeSH:D007153
xref: MeSH:D009165
xref: MIM:614890 "phenotype"
[Term]
id: DI-04223
name: Immunodeficiency 30
def: "A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD30 has low penetrance, and affected individuals have relatively mild disease and good prognosis. BCG disease and salmonellosis are the most frequent infections in IMD30 patients." []
synonym: "IL12RB1 deficiency" [UniProt]
xref: MedGen:CN219204
xref: MeSH:D007153
xref: MeSH:D009165
xref: MIM:614891 "phenotype"
[Term]
id: DI-04224
name: Immunodeficiency 31A
def: "A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD31A has low penetrance, and affected individuals have relatively mild disease and good prognosis. IMD31A confers a predisposition to mycobacterial infections only, with no increased susceptibility to viral infections." []
synonym: "Immunodeficiency 31A, mycobacteriosis, autosomal dominant" [UniProt]
synonym: "STAT1 deficiency, autosomal dominant" [UniProt]
xref: MedGen:CN219205
xref: MeSH:D007153
xref: MeSH:D009165
xref: MIM:614892 "phenotype"
[Term]
id: DI-04225
name: Immunodeficiency 27B
def: "A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD27B commonly presents with recurrent, moderately severe infections with environmental mycobacteria or BCG. Salmonellosis is present in about 5% of patients." []
synonym: "IFNGR1 deficiency, autosomal dominant" [UniProt]
synonym: "Immunodeficiency 27B, mycobacteriosis, autosomal dominant" [UniProt]
xref: MedGen:CN219206
xref: MeSH:D007153
xref: MeSH:D009165
xref: MIM:615978 "phenotype"
[Term]
id: DI-04226
name: Glucocorticoid resistance, generalized
def: "An autosomal dominant disease characterized by increased plasma cortisol concentration and high urinary free cortisol, resistance to adrenal suppression by dexamethasone, and the absence of Cushing syndrome typical signs. Clinical features include hypoglycemia, hypertension, metabolic alkalosis, chronic fatigue and profound anxiety." []
synonym: "Chrousos syndrome" [UniProt]
synonym: "Cortisol resistance from glucocorticoid receptor defect" [UniProt]
synonym: "GCCR deficiency" [UniProt]
synonym: "GCR deficiency" [UniProt]
synonym: "Glucocorticoid receptor deficiency" [UniProt]
synonym: "GRL deficiency" [UniProt]
xref: MedGen:CN205763
xref: MeSH:D008661
xref: MIM:615962 "phenotype"
[Term]
id: DI-04227
name: Adams-Oliver syndrome 5
def: "A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins." []
xref: MedGen:CN219575
xref: MeSH:D004476
xref: MeSH:D017880
xref: MIM:616028 "phenotype"
[Term]
id: DI-04228
name: Hypogonadotropic hypogonadism 22 with or without anosmia
def: "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH)." []
xref: MedGen:CN219577
xref: MeSH:D007006
xref: MIM:616030 "phenotype"
[Term]
id: DI-04229
name: Glycosylphosphatidylinositol biosynthesis defect 11
def: "An autosomal recessive neurologic disorder characterized by developmental delay, intellectual disability, tonic seizures associated with hypsarrhythmia, dysmorphic facial features, and elevated serum alkaline phosphatase." []
synonym: "HPMRS5" [UniProt]
xref: MedGen:C4014958
xref: MeSH:D008607
xref: MeSH:D010760
xref: MIM:616025 "phenotype"
[Term]
id: DI-04230
name: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
def: "An autosomal dominant disease characterized by Fanconi syndrome associated with a beta cell phenotype of neonatal hyperinsulinism with macrosomia and young onset diabetes. Fanconi syndrome is a proximal tubulopathy resulting in generalized aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia. Some FRTS4 patients have nephrocalcinosis, renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia." []
synonym: "FRTS4 with MODY" [UniProt]
xref: MedGen:CN219570
xref: MeSH:D003924
xref: MeSH:D005198
xref: MIM:616026 "phenotype"
[Term]
id: DI-04231
name: Dicarboxylic aminoaciduria
def: "An autosomal recessive disorder characterized by abnormal excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate in the kidney. It can be associated with intellectual disability." []
synonym: "Glutamate-aspartate transport defect" [UniProt]
xref: MedGen:C1857253
xref: MeSH:D000608
xref: MeSH:D008607
xref: MIM:222730 "phenotype"
[Term]
id: DI-04232
name: Neutropenia, severe congenital 6, autosomal recessive
def: "A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections." []
xref: MedGen:CN219643
xref: MeSH:D009503
xref: MIM:616022 "phenotype"
[Term]
id: DI-04233
name: Focal segmental glomerulosclerosis 8
def: "A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation." []
xref: MedGen:CN219578
xref: MeSH:D005923
xref: MIM:616032 "phenotype"
[Term]
id: DI-04234
name: Microcephaly, short stature, and impaired glucose metabolism 1
def: "An autosomal recessive disease characterized by microcephaly, intellectual disability, short stature, and disturbed glucose metabolism. Additional clinical features include delayed puberty, hypoglycemia-related seizures, hyperinsulinemic hypoglycemia, and early-onset diabetes." []
synonym: "Microcephaly, short stature, and impaired glucose metabolism" [UniProt]
synonym: "MSSGM" [UniProt]
xref: MedGen:CN219581
xref: MeSH:D004392
xref: MeSH:D008831
xref: MeSH:D044882
xref: MIM:616033 "phenotype"
[Term]
id: DI-04235
name: Analbuminemia
def: "A rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. Affected individuals manifest mild edema, hypotension, fatigue, and, occasionally, lower body lipodystrophy (mainly in adult females). The most common biochemical finding is hyperlipidemia, with a significant increase in the total and LDL cholesterol concentrations, but normal concentrations of HDL cholesterol and triglycerides." []
xref: MedGen:C0878666
xref: MeSH:D034141
xref: MIM:616000 "phenotype"
[Term]
id: DI-04236
name: Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss
def: "An autosomal dominant neurologic disorder characterized by relapsing and partially remitting, early-onset cerebellar ataxia following a febrile illness. Other features include progressive optic atrophy and sensorineural hearing loss, generalized hypotonia, areflexia and pes cavus without evidence of a peripheral neuropathy on neurophysiological studies." []
synonym: "CAPOS syndrome" [UniProt]
xref: MedGen:C1832466
xref: MeSH:D002524
xref: MeSH:D005532
xref: MeSH:D006319
xref: MeSH:D009896
xref: MIM:601338 "phenotype"
[Term]
id: DI-04237
name: Polymicrogyria, bilateral temporooccipital
def: "A disease characterized by temporo-occipital polymicrogyria, psychiatric manifestations, and epilepsy." []
xref: MedGen:C2675191
xref: MeSH:D065706
xref: MIM:612691 "phenotype"
[Term]
id: DI-04238
name: Hennekam lymphangiectasia-lymphedema syndrome 2
def: "A form of Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymph-vessels dysplasia characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face. In addition, affected individuals have unusual facies and some manifest intellectual disability. HKLLS2 individuals have lymphangiectasia variably affecting the gut, pericardium, lungs, kidneys, and genitalia. Other features include camptodactyly and rare syndactyly. HKLLS2 inheritance is autosomal recessive." []
xref: MedGen:CN219642
xref: MeSH:D008201
xref: MeSH:D008209
xref: MIM:616006 "phenotype"
[Term]
id: DI-04239
name: Ectodermal dysplasia/short stature syndrome
def: "An autosomal recessive ectodermal dysplasia syndrome characterized by nail dystrophy and/or loss, oral mucosa and/or tongue pigmentation, abnormal dentition, keratoderma affecting the margins of the palms and soles, focal hyperkeratosis of the dorsal aspects of the hands and feet, and short stature." []
xref: MedGen:CN219576
xref: MeSH:D004392
xref: MeSH:D004476
xref: MIM:616029 "phenotype"
[Term]
id: DI-04240
name: 2,4-dienoyl-CoA reductase deficiency
def: "A rare, autosomal recessive, inborn error of polyunsaturated fatty acids and lysine metabolism, resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic abnormalities beginning in early infancy. Laboratory studies show increased C10:2 carnitine levels and hyperlysinemia." []
xref: MedGen:CN037048
xref: MeSH:D020167
xref: MeSH:D028361
xref: MIM:616034 "phenotype"
[Term]
id: DI-04241
name: Hypoplasia or aplasia of tibia with polydactyly
def: "An autosomal dominant disease characterized by hypoplastic or absent tibia, and polydactyly." []
synonym: "Hypoplastic or aplastic tibia with polydactyly" [UniProt]
synonym: "Tibia, hypoplasia or aplasia of, with polydactyly" [UniProt]
synonym: "Tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia" [UniProt]
synonym: "Werner mesomelic syndrome" [UniProt]
synonym: "WMS" [UniProt]
xref: MedGen:C1861099
xref: MeSH:D004480
xref: MeSH:D017689
xref: MIM:188740 "phenotype"
[Term]
id: DI-04242
name: Spinocerebellar ataxia 40
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA40 is an autosomal dominant, slowly progressive form. Brain MRI shows pontocerebellar atrophy along with a global reduction in brain volume." []
xref: MedGen:CN219009
xref: MeSH:D020754
xref: MIM:616053 "phenotype"
[Term]
id: DI-04243
name: Combined oxidative phosphorylation deficiency 22
def: "A mitochondrial disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, pulmonary hypertension, failure to thrive, encephalopathy, and heart failure." []
xref: MedGen:CN220052
xref: MeSH:D028361
xref: MIM:616045 "phenotype"
[Term]
id: DI-04244
name: Deafness, autosomal dominant, 65
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA65 is characterized by postlingual onset of slowly progressive hearing loss in the third decade. Initially affecting the high frequencies, the hearing loss eventually affects all frequencies and results in severe to profound deafness in the seventh decade. Vestibular function is normal." []
xref: MedGen:CN220131
xref: MeSH:D006319
xref: MIM:616044 "phenotype"
[Term]
id: DI-04245
name: Muscular dystrophy-dystroglycanopathy limb-girdle C7
def: "A form of muscular dystrophy resulting from defective glycosylation of alpha-dystroglycan, and characterized by a limb-girdle phenotype with muscular weakness apparent after ambulation is achieved. MDDGC7 individuals do not show epilepsy, intellectual disability, structural eye/brain abnormalities, or white matter changes." []
synonym: "LGMD2U" [UniProt]
synonym: "LGMDR20" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, autosomal recessive 20" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 2U" [UniProt]
synonym: "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7" [UniProt]
xref: MedGen:CN220058
xref: MeSH:D049288
xref: MIM:616052 "phenotype"
[Term]
id: DI-04246
name: Autoinflammation with infantile enterocolitis
def: "An autosomal dominant disorder characterized by neonatal-onset enterocolitis, periodic fever, and fatal or near-fatal episodes of autoinflammation. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy, recurrent febrile episodes with splenomegaly, and sometimes hematologic disturbances, arthralgias, or myalgias." []
xref: MedGen:CN220130
xref: MeSH:D004760
xref: MeSH:D056660
xref: MIM:616050 "phenotype"
[Term]
id: DI-04247
name: Ciliary dyskinesia, primary, 30
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome." []
synonym: "Primary ciliary dyskinesia 30 with or without situs inversus" [UniProt]
xref: MedGen:CN219801
xref: MeSH:D007619
xref: MIM:616037 "phenotype"
[Term]
id: DI-04248
name: Meningioma
def: "A common neoplasm of the central nervous system derived from arachnoidal cells. The majority of meningiomas are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Most cases are sporadic. Familial occurrence of meningioma is rare." []
synonym: "Familial meningioma" [UniProt]
xref: MedGen:C1333989
xref: MedGen:C3551915
xref: MeSH:D008579
xref: MIM:607174 "phenotype"
[Term]
id: DI-04249
name: Developmental and epileptic encephalopathy 26
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE26 patients manifest multiple types of seizures, delayed psychomotor development, poor or absent speech, hypotonia, hypsarrhythmia." []
synonym: "EIEE26" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 26" [UniProt]
xref: MedGen:CN220386
xref: MeSH:D013036
xref: MIM:616056 "phenotype"
[Term]
id: DI-04250
name: Porokeratosis 8, disseminated superficial actinic type
def: "A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun- exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near- complete penetrance by the third or fourth decade of life." []
xref: MedGen:CN220507
xref: MeSH:D017499
xref: MIM:616063 "phenotype"
[Term]
id: DI-04251
name: 46,XY sex reversal 9
def: "A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females or have ambiguous external genitalia." []
synonym: "46,XY sex reversal, ZFPM2-related" [UniProt]
xref: MedGen:CN220529
xref: MeSH:D006061
xref: MIM:616067 "phenotype"
[Term]
id: DI-04252
name: Intellectual developmental disorder, autosomal dominant 29
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD29 patients manifest severe intellectual disability, behavioral difficulties, speech and motor delays, and dysmorphic facial features." []
xref: MedGen:CN220547
xref: MeSH:D008607
xref: MIM:616078 "phenotype"
[Term]
id: DI-04253
name: Neu-Laxova syndrome 2
def: "A form of Neu-Laxova syndrome, a lethal, autosomal recessive multiple malformation syndrome characterized by ichthyosis, marked intrauterine growth restriction, microcephaly, short neck, limb deformities, hypoplastic lungs, edema, and central nervous system anomalies. These include lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum. Abnormal facial features include severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears." []
xref: MedGen:CN219802
xref: MeSH:D001927
xref: MeSH:D005317
xref: MeSH:D007057
xref: MeSH:D008831
xref: MeSH:D017880
xref: MIM:616038 "phenotype"
[Term]
id: DI-04254
name: Charcot-Marie-Tooth disease, recessive intermediate D
def: "A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec." []
xref: MedGen:CN219803
xref: MeSH:D002607
xref: MIM:616039 "phenotype"
[Term]
id: DI-04255
name: Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS7A is an autosomal dominant, presynaptic disorder resembling Lambert-Eaton myasthenic syndrome. Affected individuals have a variable degree of proximal and distal limb weakness, muscle fatigue that improves with rest, mild gait difficulties, and reduced or absent deep tendon reflexes." []
synonym: "Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy" [UniProt]
synonym: "MYSPC" [UniProt]
xref: MedGen:CN219804
xref: MeSH:D020294
xref: MIM:616040 "phenotype"
[Term]
id: DI-04256
name: Spinocerebellar ataxia 21
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA21 is characterized by onset in the first decades of life of slowly progressive relatively mild cerebellar ataxia associated with slight extrapyramidal features predominant in older patients and cognitive impairment predominant in younger patients." []
xref: MedGen:C1843891
xref: MeSH:D020754
xref: MIM:607454 "phenotype"
[Term]
id: DI-04257
name: Intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD30 patients manifest intellectual disability, speech delay, and subtle facial dysmorphisms, including hypertelorism, ptosis, and a wide mouth. Behavioral abnormalities, including attention deficit- hyperactivity disorder, autistic features, and aggression are commonly observed." []
xref: MedGen:CN220924
xref: MeSH:D008607
xref: MIM:616083 "phenotype"
[Term]
id: DI-04258
name: Bardet-Biedl syndrome 16
def: "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease." []
xref: MedGen:CN120370
xref: MeSH:D020788
xref: MIM:615993 "phenotype"
[Term]
id: DI-04259
name: Congenital disorder of glycosylation 1Y
def: "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions." []
synonym: "CDG Iy" [UniProt]
synonym: "CDG-Iy" [UniProt]
synonym: "CDGIy" [UniProt]
synonym: "Congenital disorder of glycosylation type Iy" [UniProt]
xref: MedGen:CN221287
xref: MeSH:D018981
xref: MIM:300934 "phenotype"
[Term]
id: DI-04260
name: Palmoplantar keratoderma and woolly hair
def: "A disorder characterized by abnormal thickening of the skin on the palms and soles, in association with woolly scalp hair. Affected individuals manifest a variable degree of striate palmoplantar keratoderma, generally more severe on the soles. Leukonychia is more pronounced on the fingernails than toenails. Scalp hair, body hair, eyebrows, and eyelashes are sparse. The fifth toes show variable degrees of pseudoainhum, ranging from external rotation to a deep sulcus at the digitoplantar fold, accompanied by a bulbous appearance of the distal toe." []
xref: MedGen:CN221807
xref: MeSH:D007645
xref: MIM:616099 "phenotype"
[Term]
id: DI-04261
name: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
def: "An autosomal recessive disease characterized by severe sideroblastic anemia with onset in the neonatal period or infancy, recurrent periodic fevers without an infectious etiology, B-cell lymphopenia and hypogammaglobulinemia. Affected individuals show delayed psychomotor development with variable neurodegeneration. Additional variable features include sensorineural hearing loss, retinitis pigmentosa, nephrocalcinosis, and cardiomyopathy." []
xref: MedGen:CN221134
xref: MeSH:D000756
xref: MeSH:D002658
xref: MeSH:D007153
xref: MeSH:D056660
xref: MIM:616084 "phenotype"
[Term]
id: DI-04262
name: Microcephaly 12, primary, autosomal recessive
def: "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small." []
xref: MedGen:CN220919
xref: MeSH:D008831
xref: MIM:616080 "phenotype"
[Term]
id: DI-04263
name: Monocarboxylate transporter 1 deficiency
def: "A metabolic disorder characterized by recurrent ketoacidosis, a pathologic state due to ketone formation exceeding ketone utilization. The clinical consequences of ketoacidosis are vomiting, osmotic diuresis, dehydration, and Kussmaul breathing. The condition may progress to decreased consciousness and, ultimately, death." []
xref: MedGen:CN221290
xref: MeSH:D007662
xref: MIM:616095 "phenotype"
[Term]
id: DI-04264
name: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
def: "An autosomal recessive disorder characterized by cataracts, short- stature secondary to growth hormone deficiency, sensorineural hearing deficit, peripheral sensory neuropathy, skeletal dysplasia, scoliosis, and facial dysmorphism." []
xref: MedGen:CN221141
xref: MeSH:D001848
xref: MeSH:D002386
xref: MeSH:D006319
xref: MeSH:D009477
xref: MIM:616007 "phenotype"
[Term]
id: DI-04265
name: Type 2 diabetes mellitus 5
def: "A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels." []
synonym: "Diabetes mellitus, non-insulin-dependent, 5" [UniProt]
synonym: "NIDDM5" [UniProt]
xref: MedGen:CN221135
xref: MeSH:D003924
xref: MIM:616087 "phenotype"
[Term]
id: DI-04266
name: Immunodeficiency 37
def: "A form of primary combined immunodeficiency, a group of disorders characterized by severe recurrent infections, with normal numbers or an absence of T and B lymphocytes, and impaired cellular and humoral immunity. IMD37 is characterized by hypogammaglobulinemia without lymphopenia, but with profoundly reduced memory B cells and memory T cells, and increased numbers of circulating naive lymphocytes. Inheritance is autosomal recessive." []
xref: MedGen:CN221289
xref: MeSH:D007153
xref: MIM:616098 "phenotype"
[Term]
id: DI-04267
name: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
def: "A cardiocutaneous syndrome characterized by biventricular dilated cardiomyopathy, hyperkeratosis, woolly hair, palmoplantar keratoderma, and hypo/oligodontia." []
xref: MedGen:CN221269
xref: MeSH:D000848
xref: MeSH:D002311
xref: MeSH:D006201
xref: MeSH:D007645
xref: MIM:615821 "phenotype"
[Term]
id: DI-04268
name: Deafness, autosomal recessive, 103
def: "A form of sensorineural deafness with onset in early childhood. Hearing impairment progresses from mild to severe or even profound before the second decade, and is accompanied by vestibular areflexia." []
xref: MedGen:CN221349
xref: MeSH:D006319
xref: MIM:616042 "phenotype"
[Term]
id: DI-04269
name: Microcephaly 13, primary, autosomal recessive
def: "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small." []
xref: MedGen:CN220782
xref: MeSH:D008831
xref: MIM:616051 "phenotype"
[Term]
id: DI-04270
name: Mirror movements 3
def: "A disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities." []
xref: MedGen:CN220783
xref: MeSH:D020820
xref: MIM:616059 "phenotype"
[Term]
id: DI-04271
name: Inflammatory skin and bowel disease, neonatal, 2
def: "A disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. The skin lesions involve perioral and perianal erythema, psoriasiform erythroderma, with flares of erythema, scaling, and widespread pustules. Gastrointestinal symptoms include malabsorptive diarrhea that is exacerbated by intercurrent gastrointestinal infections. The hair is short or broken, and the eyelashes and eyebrows are wiry and disorganized." []
xref: MedGen:CN220784
xref: MeSH:D012873
xref: MeSH:D015212
xref: MIM:616069 "phenotype"
[Term]
id: DI-04272
name: Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities
def: "An autosomal dominant retinal dystrophy characterized by inner retinal dysfunction in association with ganglion cell abnormalities. Clinical features include mild photophobia, progressive loss of central vision, night blindness, and hyperreflectivity of nerve and ganglion cell layers." []
xref: MedGen:CN221090
xref: MeSH:D058499
xref: MIM:616079 "phenotype"
[Term]
id: DI-04273
name: Pontocerebellar hypoplasia 1C
def: "A severe autosomal recessive neurodegenerative disease characterized by cerebellar and corpus callosum hypoplasia, abnormal myelination of the central nervous system, and spinal motor neuron disease. Affected individuals manifest failure to thrive, severe muscle weakness, spasticity and psychomotor retardation. Vision and hearing are impaired." []
xref: MedGen:CN221091
xref: MeSH:D002526
xref: MIM:616081 "phenotype"
[Term]
id: DI-04274
name: Muscular dystrophy-dystroglycanopathy limb-girdle C12
def: "An autosomal recessive limb-girdle congenital muscular dystrophy, characterized by muscle weakness and delayed motor development in association with cognitive impairment." []
synonym: "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12" [UniProt]
synonym: "Muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related" [UniProt]
xref: MedGen:CN221288
xref: MeSH:D049288
xref: MIM:616094 "phenotype"
[Term]
id: DI-04275
name: Laurin-Sandrow syndrome
def: "A rare autosomal dominant disorder characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia. Some patients do not have nasal abnormalities (segmental Laurin-Sandrow syndrome)." []
synonym: "Duplication of fibula and ulna with absence of tibia and radius" [UniProt]
synonym: "MIP" [UniProt]
synonym: "Mirror hands and feet with nasal defects" [UniProt]
synonym: "Mirror-image polydactyly" [UniProt]
synonym: "Sandrow syndrome" [UniProt]
synonym: "Segmental Laurin-Sandrow syndrome" [UniProt]
synonym: "Tetramelic mirror-image polydactyly" [UniProt]
synonym: "TMIP" [UniProt]
xref: MedGen:C1851100
xref: MeSH:D017880
xref: MIM:135750 "phenotype"
[Term]
id: DI-04276
name: Hydroxykynureninuria
def: "An inborn error of amino acid metabolism characterized by massive urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine and xanthurenic acid. Affected individuals manifest renal tubular dysfunction, metabolic acidosis, psychomotor retardation, non- progressive encephalopathy, and muscular hypertonia." []
synonym: "Partial kynureninase deficiency" [UniProt]
synonym: "Xanthurenic aciduria" [UniProt]
xref: MedGen:C0268474
xref: MeSH:D000592
xref: MIM:236800 "phenotype"
[Term]
id: DI-04277
name: Psoriasis 15, pustular
def: "A form of pustular psoriasis, a life-threatening disease defined by repeated flares of sudden onset consisting of diffuse erythematous skin eruption characterized by rapid coverage with pustules, high- grade fever, asthenia, marked leukocytosis, and elevated serum levels of C-reactive protein." []
xref: MedGen:CN225908
xref: MeSH:D011565
xref: MIM:616106 "phenotype"
[Term]
id: DI-04278
name: Orofaciodigital syndrome 6
def: "A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD6 is characterized by metacarpal abnormalities with central polydactyly, cerebellar abnormalities including the molar tooth sign, tongue hamartomas, additional frenula, and upper lip notch." []
synonym: "OFDS VI" [UniProt]
synonym: "Oral-facial-digital syndrome 6" [UniProt]
synonym: "Oral-facial-digital syndrome, type VI" [UniProt]
synonym: "Orofaciodigital syndrome VI" [UniProt]
synonym: "Polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation" [UniProt]
synonym: "Varadi syndrome" [UniProt]
synonym: "Varadi-PAPP syndrome" [UniProt]
xref: MedGen:C2745997
xref: MeSH:D009958
xref: MIM:277170 "phenotype"
[Term]
id: DI-04279
name: Familial cold autoinflammatory syndrome 4
def: "A form of autoinflammatory syndrome, a rare autosomal dominant systemic disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold." []
xref: MedGen:CN221665
xref: MeSH:D056587
xref: MIM:616115 "phenotype"
[Term]
id: DI-04280
name: Immunodeficiency 38, with basal ganglia calcification
def: "A primary immunodeficiency predisposing individuals to severe clinical disease upon infection with weakly virulent mycobacteria, including Mycobacterium bovis Bacille Calmette-Guerin (BCG) vaccines. Patients are also susceptible to Salmonella and Mycobacterium tuberculosis infections. Affected individuals have intracranial calcification." []
synonym: "Immunodeficiency 38, mycobacteriosis, autosomal recessive" [UniProt]
synonym: "ISG15 deficiency, autosomal recessive" [UniProt]
xref: MedGen:CN221808
xref: MeSH:D007153
xref: MIM:616126 "phenotype"
[Term]
id: DI-04281
name: Perrault syndrome 5
def: "A form of Perrault syndrome, a sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile." []
xref: MedGen:CN224077
xref: MeSH:D006319
xref: MeSH:D023961
xref: MIM:616138 "phenotype"
[Term]
id: DI-04282
name: Cardiac conduction disease with or without dilated cardiomyopathy
def: "A cardiac disorder characterized by atrial tachyarrhythmia and conduction system disease. Some patients have dilated cardiomyopathy. CCDD inheritance is autosomal dominant." []
xref: MedGen:CN221670
xref: MeSH:D001145
xref: MeSH:D002311
xref: MIM:616117 "phenotype"
[Term]
id: DI-04283
name: Intellectual developmental disorder, autosomal recessive 46
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT46 manifestations include delayed psychomotor development apparent from infancy or early childhood, delayed or absent expressive speech, hypotonia, and therapy-responsive seizures in some patients. Behavioral abnormalities are variable and include aggression, self- injurious behavior, and sleep disturbances." []
xref: MedGen:CN221666
xref: MeSH:D008607
xref: MIM:616116 "phenotype"
[Term]
id: DI-04284
name: Mitochondrial complex III deficiency, nuclear type 9
def: "A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. MC3DN9 clinical features include feeding difficulties, hypoglycemia, severe lactic acidosis, and delayed psychomotor development." []
xref: MedGen:CN221539
xref: MeSH:D028361
xref: MIM:616111 "phenotype"
[Term]
id: DI-04285
name: Macular degeneration, early-onset
def: "An ocular disorder characterized by macular changes resulting in progressive loss of visual acuity." []
xref: MedGen:CN221671
xref: MeSH:D008268
xref: MIM:616118 "phenotype"
[Term]
id: DI-04286
name: Macular dystrophy, vitelliform, 4
def: "A form of macular dystrophy, a retinal disease in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea. Vitelliform macular dystrophies are characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. VMD4 features include late-onset moderate visual impairment, small satellite drusen-like lesions in the foveal area, and preservation of retinal pigment epithelium reflectivity." []
xref: MedGen:CN224845
xref: MeSH:D057826
xref: MIM:616151 "phenotype"
[Term]
id: DI-04287
name: Macular dystrophy, vitelliform, 5
def: "A form of macular dystrophy, a retinal disease in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea. Vitelliform macular dystrophies are characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. VMD5 features include late-onset moderate visual impairment and preservation of retinal pigment epithelium reflectivity." []
xref: MedGen:CN224846
xref: MeSH:D057826
xref: MIM:616152 "phenotype"
[Term]
id: DI-04288
name: Leukodystrophy, hypomyelinating, 9
def: "An autosomal recessive neurodegenerative disorder characterized by delayed psychomotor development, severe spasticity, nystagmus, and ataxia associated with diffuse hypomyelination apparent on brain MRI." []
xref: MedGen:CN224182
xref: MeSH:D020279
xref: MIM:616140 "phenotype"
[Term]
id: DI-04289
name: Developmental and epileptic encephalopathy 27
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent." []
synonym: "EIEE27" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 27" [UniProt]
xref: MedGen:CN224183
xref: MeSH:D013036
xref: MIM:616139 "phenotype"
[Term]
id: DI-04290
name: Spinocerebellar ataxia, autosomal recessive, 17
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR17 features include non-progressive congenital cerebellar ataxia, mildly delayed walking with an unsteady gait and frequent falls, dysarthria, dysmetria, hypotonia in the extremities, truncal ataxia, increased reflexes in the lower extremities, and intellectual disability." []
xref: MedGen:CN225909
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:616127 "phenotype"
[Term]
id: DI-04291
name: Polyendocrine-polyneuropathy syndrome
def: "A progressive endocrine and neurodevelopmental disorder manifesting early in childhood with growth retardation and recurrent episodes of profound asymptomatic hypoglycemia. PEPNS is characterized by central hypothyroidism, hypogonadotropic hypogonadism, incomplete puberty, progressive non-autoimmune insulin-dependent diabetes mellitus, peripheral demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs." []
xref: MedGen:CN221664
xref: MeSH:D003920
xref: MeSH:D007006
xref: MeSH:D011115
xref: MIM:616113 "phenotype"
[Term]
id: DI-04292
name: Nemaline myopathy 10
def: "An autosomal recessive severe form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM10 is characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Additional features include arthrogryposis or congenital contractures, ophthalmoplegia, a history of prematurity, reduced fetal movements, and polyhydramnios. Most patients die of respiratory failure in early infancy." []
xref: MedGen:CN224985
xref: MeSH:D017696
xref: MIM:616165 "phenotype"
[Term]
id: DI-04293
name: Aortic aneurysm, familial thoracic 9
def: "A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance." []
synonym: "Aortic aneurysm, thoracic, with or without aortic dissection" [UniProt]
xref: MedGen:CN224986
xref: MeSH:D017545
xref: MIM:616166 "phenotype"
[Term]
id: DI-04294
name: Bleeding disorder, platelet-type, 19
def: "A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia." []
xref: MedGen:CN224992
xref: MeSH:D001791
xref: MeSH:D006470
xref: MIM:616176 "phenotype"
[Term]
id: DI-04295
name: Macular dystrophy with central cone involvement
def: "An ocular disease characterized by decreased visual acuity, slight pigmentary changes and color vision abnormalities, becoming apparent in the third to sixth decade of life. Fundus anomalies are variable and include bull's eye maculopathy, severe atrophy of central fovea, relatively spared fovea with surrounding atrophic ring, central retinal pigment epithelium and/or choroid changes, pale or atrophic peripapillary area, pale optic disk, relatively spared periphery, and slightly or moderately attenuated vessels." []
xref: MedGen:CN224989
xref: MeSH:D005128
xref: MIM:616170 "phenotype"
[Term]
id: DI-04296
name: Ovarian dysgenesis 4
def: "A form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG4 is an autosomal recessive condition." []
xref: MedGen:CN225030
xref: MeSH:D023961
xref: MIM:616185 "phenotype"
[Term]
id: DI-04297
name: Temple-Baraitser syndrome
def: "A developmental disorder characterized by intellectual disability, epilepsy, hypoplasia or aplasia of the thumb and great toe nails, and broadening and/or elongation of the thumbs and halluces, which have a tubular aspect. Some patients show facial dysmorphism." []
synonym: "TBS" [UniProt]
xref: MedGen:C2678486
xref: MeSH:D008607
xref: MeSH:D009264
xref: MeSH:D017880
xref: MIM:611816 "phenotype"
[Term]
id: DI-04298
name: Retinal dystrophy and obesity
def: "A disease characterized by obesity, night blindness, decreased visual acuity, and electrophysiological features of a rod cone dystrophy." []
xref: MedGen:CN225049
xref: MeSH:D009765
xref: MeSH:D058499
xref: MIM:616188 "phenotype"
[Term]
id: DI-04299
name: Microcephaly and chorioretinopathy, autosomal recessive, 2
def: "A severe disorder characterized by microcephaly, delayed psychomotor development, growth retardation with dwarfism, and ocular abnormalities." []
xref: MedGen:CN224990
xref: MeSH:D008831
xref: MeSH:D012164
xref: MIM:616171 "phenotype"
[Term]
id: DI-04300
name: Generalized epilepsy with febrile seizures plus 9
def: "An autosomal dominant neurologic disorder characterized by febrile and/or afebrile seizures manifesting in early childhood. Seizure are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence types. Most patients have remission of seizures later in childhood with no residual neurologic deficits. Rarely, patients may show mild developmental delay or mild intellectual disabilities." []
synonym: "GEFS+ type 9" [UniProt]
synonym: "GEFS+9" [UniProt]
synonym: "Generalized epilepsy with febrile seizures plus, type 9" [UniProt]
xref: MedGen:CN224991
xref: MeSH:D003294
xref: MeSH:D004829
xref: MIM:616172 "phenotype"
[Term]
id: DI-04301
name: Catel-Manzke syndrome
def: "A syndrome characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia)." []
synonym: "Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome" [UniProt]
synonym: "Index finger anomaly with Pierre Robin syndrome" [UniProt]
synonym: "Micrognathia digital syndrome" [UniProt]
synonym: "Palatodigital syndrome, Catel-Manzke type" [UniProt]
synonym: "Pierre Robin syndrome with hyperphalangy and clinodactyly" [UniProt]
xref: MedGen:C1844887
xref: MeSH:D006228
xref: MeSH:D010855
xref: MIM:616145 "phenotype"
[Term]
id: DI-04302
name: Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation
def: "An autosomal dominant primary immunodeficiency characterized by severe autoimmunity, infiltration of non-lymphoid organs, such as the intestine, lungs and brain, by hyperactive T cells and B cells, autoimmune cytopenias, and hypogammaglobulinemia in early childhood." []
synonym: "ALPS5" [UniProt]
synonym: "Autoimmune lymphoproliferative syndrome 5" [UniProt]
synonym: "Autoimmune lymphoproliferative syndrome type V" [UniProt]
xref: MedGen:CN221537
xref: MeSH:D008232
xref: MIM:616100 "phenotype"
[Term]
id: DI-04303
name: Retinal dystrophy, juvenile cataracts, and short stature syndrome
def: "A disorder characterized by retinal dystrophy resulting in progressive decrease in visual acuity and difficulties with night vision in the first decade of life, development of juvenile cataracts, facial dysmorphism, psychomotor developmental delays, learning disabilities and short stature. Ophthalmological findings include salt-and-pepper retinopathy, attenuation of the arterioles, generalized rod-cone dysfunction, mottled macula at an early age, and peripapillary sparing of the retinal pigment epithelium." []
xref: MedGen:CN221538
xref: MeSH:D002386
xref: MeSH:D004392
xref: MeSH:D058499
xref: MIM:616108 "phenotype"
[Term]
id: DI-04304
name: Pituitary adenoma 2, growth hormone-secreting
def: "A form of pituitary adenoma, a neoplasm of the pituitary gland and one of the most common neuroendocrine tumors. Pituitary adenomas are clinically classified as functional and non-functional tumors, and manifest with a variety of features, including local invasion of surrounding structures and excessive hormone secretion. Functional pituitary adenomas are further classified by the type of hormone they secrete. PITA2 is a growth hormone-secreting benign neoplasm, also known as somatotropinoma. It clinically results in acromegaly, a condition characterized by coarse facial features, protruding jaw, and enlarged extremities. Excessive production of growth hormone in children or adolescents before the closure of epiphyses causes gigantism, a condition characterized by abnormally tall stature." []
synonym: "Acromegaly due to pituitary adenoma 2" [UniProt]
synonym: "Acromegaly, X-linked" [UniProt]
xref: MedGen:C4012409
xref: MeSH:D000172
xref: MeSH:D049912
xref: MIM:300943 "phenotype"
[Term]
id: DI-04305
name: Peroxisomal fatty acyl-CoA reductase 1 disorder
def: "An autosomal recessive metabolic disorder clinically characterized by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity." []
xref: MedGen:CN224982
xref: MeSH:D018901
xref: MIM:616154 "phenotype"
[Term]
id: DI-04306
name: Galloway-Mowat syndrome 1
def: "A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Patients may die in early childhood. GAMOS1 inheritance is autosomal recessive." []
synonym: "CAMOS" [UniProt]
synonym: "Galloway syndrome" [UniProt]
synonym: "Galloway-Mowat syndrome" [UniProt]
synonym: "Microcephaly, hiatal hernia, and nephrotic syndrome" [UniProt]
synonym: "Nephrosis-microcephaly syndrome" [UniProt]
synonym: "Nephrosis-neuronal dysmigration syndrome" [UniProt]
synonym: "SCAR5" [UniProt]
synonym: "Spinocerebellar ataxia, autosomal recessive, 5" [UniProt]
xref: MedGen:C0795949
xref: MeSH:D006551
xref: MeSH:D008831
xref: MeSH:D009404
xref: MeSH:D009422
xref: MIM:251300 "phenotype"
[Term]
id: DI-04307
name: Filippi syndrome
def: "A rare disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi. Some affected individuals have intellectual disability, seizures, undescended testicles in males, and teeth and hair abnormalities." []
xref: MedGen:C0795940
xref: MeSH:D006130
xref: MeSH:D008607
xref: MeSH:D008831
xref: MeSH:D013576
xref: MeSH:D019066
xref: MIM:272440 "phenotype"
[Term]
id: DI-04308
name: Charcot-Marie-Tooth disease, axonal, 2S
def: "An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy." []
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2S" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy axonal type 2S" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy, type 2S" [UniProt]
xref: MedGen:CN224983
xref: MeSH:D002607
xref: MIM:616155 "phenotype"
[Term]
id: DI-04309
name: Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties
def: "An autosomal dominant disorder characterized by severe neonatal hypotonia, respiratory and feeding difficulties, encephalopathy, and severe developmental delay. Additional common features may include seizures, exaggerated startle reflex, abnormal movements, and dysmorphic facial features." []
synonym: "MRD31" [UniProt]
xref: MedGen:CN224984
xref: MeSH:D008607
xref: MIM:616158 "phenotype"
[Term]
id: DI-04310
name: Epilepsy, progressive myoclonic 7
def: "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM7 is an autosomal dominant form characterized by myoclonic epilepsy apparent in the first or second decades of life. Cognitive function may decline in some patients." []
xref: MedGen:CN225185
xref: MeSH:D020191
xref: MIM:616187 "phenotype"
[Term]
id: DI-04311
name: Intellectual developmental disorder, autosomal recessive 47
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT47 patients show delayed development, with cognition and speech more affected than motor skills." []
xref: MedGen:CN225186
xref: MeSH:D008607
xref: MIM:616193 "phenotype"
[Term]
id: DI-04312
name: Polyglucosan body myopathy 2
def: "A glycogen storage disease characterized by polyglucosan accumulation in muscle, and skeletal myopathy without cardiac involvement. Most patients manifest slowly progressive, hip girdle, shoulder girdle, and/or hand and leg muscle weakness. Polyglucosan contains abnormally long and poorly branched glucosyl chains and is variably resistant to digestion by alpha-amylase." []
xref: MedGen:CN225346
xref: MeSH:D006008
xref: MeSH:D009135
xref: MIM:616199 "phenotype"
[Term]
id: DI-04313
name: Ruijs-Aalfs syndrome
def: "A syndrome characterized by genomic instability, progeroid features, and susceptibility toward early onset hepatocellular carcinoma." []
xref: MedGen:CN225196
xref: MeSH:D002277
xref: MeSH:D049914
xref: MIM:616200 "phenotype"
[Term]
id: DI-04314
name: Chronic atrial and intestinal dysrhythmia
def: "A disease characterized by dysregulation of the cardiac sinus node resulting in sick sinus syndrome, in association with chronic intestinal pseudo-obstruction, a disorder of gastrointestinal motility in which intestinal obstruction occurs in the absence of a mechanical obstacle." []
xref: MedGen:CN225197
xref: MeSH:D007418
xref: MeSH:D012804
xref: MIM:616201 "phenotype"
[Term]
id: DI-04315
name: Cerebellofaciodental syndrome
def: "An autosomal recessive disorder characterized by cerebellar hypoplasia, delayed development and intellectual disability, as well as facial dysmorphic features, short stature, microcephaly, and dental anomalies." []
synonym: "Cerebellar-facial-dental syndrome" [UniProt]
xref: MedGen:CN225198
xref: MeSH:D002526
xref: MeSH:D004392
xref: MeSH:D008607
xref: MeSH:D019066
xref: MIM:616202 "phenotype"
[Term]
id: DI-04316
name: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
def: "A disease characterized by juvenile-onset diabetes and neurodegeneration, resulting in ataxia, upper-motor-neuron damage, peripheral neuropathy, hearing loss, and cerebral atrophy." []
xref: MedGen:CN225195
xref: MeSH:D001259
xref: MeSH:D003920
xref: MeSH:D020271
xref: MeSH:D034381
xref: MIM:616192 "phenotype"
[Term]
id: DI-04317
name: Spinocerebellar ataxia, autosomal recessive, 18
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR18 features include progressive cerebellar atrophy, delayed psychomotor development, severely impaired gait, ocular movement abnormalities, and intellectual disability." []
xref: MedGen:CN225382
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:616204 "phenotype"
[Term]
id: DI-04318
name: Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia
def: "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Patients with ALS22 may develop frontotemporal dementia." []
xref: MedGen:CN225414
xref: MeSH:D000690
xref: MIM:616208 "phenotype"
[Term]
id: DI-04319
name: Lacrimal duct defect
def: "A condition resulting in the imbalance between tear production and tear drainage. Infants typically manifest persistent epiphora and/or recurrent infections of the lacrimal pathway, such as conjunctivitis. LCDD is caused by failure of the nasolacrimal duct to open into the inferior meatus." []
synonym: "Lacrimal duct obstruction" [UniProt]
synonym: "Nasolacrimal duct obstruction" [UniProt]
xref: MedGen:C1835612
xref: MeSH:D007767
xref: MIM:149700 "phenotype"
[Term]
id: DI-04320
name: Congenital heart defects, hamartomas of tongue, and polysyndactyly
def: "A disease characterized by a constellation of anomalies including tongue hamartomas, polysyndactyly, and congenital heart defects such as atrioventricular canal and coarctation of the aorta." []
xref: MedGen:C1857587
xref: MeSH:D006222
xref: MeSH:D006330
xref: MeSH:D013576
xref: MIM:217085 "phenotype"
[Term]
id: DI-04321
name: Waisman syndrome
def: "A neurologic disorder characterized by delayed psychomotor development, intellectual disability, and early-onset Parkinson disease." []
synonym: "BGMR" [UniProt]
synonym: "WSN" [UniProt]
xref: MedGen:C0796195
xref: MeSH:D008607
xref: MeSH:D010300
xref: MIM:311510 "phenotype"
[Term]
id: DI-04322
name: Burn-McKeown syndrome
def: "A disease characterized by choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphism consisting of narrow palpebral fissures, coloboma of the lower eyelids, prominent nose with high nasal bridge, short philtrum, cleft lip and/or palate, and large and protruding ears. Intellectual development is normal." []
synonym: "Oculootofacial dysplasia" [UniProt]
synonym: "OOFD" [UniProt]
xref: MedGen:C1837822
xref: MeSH:D002754
xref: MeSH:D003638
xref: MeSH:D006330
xref: MeSH:D019066
xref: MIM:608572 "phenotype"
[Term]
id: DI-04323
name: Syndactyly, mesoaxial synostotic, with phalangeal reduction
def: "An autosomal recessive, non-syndromic digit anomaly characterized by mesoaxial osseous synostosis at a metacarpal level, reduction of one or more phalanges, hypoplasia of distal phalanges of preaxial and postaxial digits, clinodactyly of fifth fingers, and preaxial fusion of toes." []
synonym: "Mesoaxial synostotic syndactyly, Malik-Percin type" [UniProt]
synonym: "Syndactyly, Malik-Percin type" [UniProt]
synonym: "Syndactyly, type IX" [UniProt]
xref: MedGen:C1836206
xref: MeSH:D013576
xref: MIM:609432 "phenotype"
[Term]
id: DI-04324
name: Leber congenital amaurosis 18
def: "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or almost absent pupillary responses, photophobia, high hyperopia and keratoconus." []
xref: MedGen:CN224078
xref: MeSH:D057130
xref: MIM:608133 "phenotype"
[Term]
id: DI-04325
name: Developmental and epileptic encephalopathy 28
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent." []
synonym: "EIEE28" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 28" [UniProt]
xref: MedGen:CN225654
xref: MeSH:D013036
xref: MIM:616211 "phenotype"
[Term]
id: DI-04326
name: Focal segmental glomerulosclerosis 9
def: "A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation." []
synonym: "Glomerulosclerosis, focal segmental, 9" [UniProt]
xref: MedGen:CN225927
xref: MeSH:D005923
xref: MIM:616220 "phenotype"
[Term]
id: DI-04327
name: Lethal congenital contracture syndrome 6
def: "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS6 features include severe polyhydramnios and absent stomach, in addition to multiple contracture deformities." []
xref: MedGen:CN227921
xref: MeSH:D001176
xref: MIM:616248 "phenotype"
[Term]
id: DI-04328
name: Long QT syndrome 15
def: "A form of long QT syndrome, a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy." []
xref: MedGen:CN228134
xref: MeSH:D008133
xref: MIM:616249 "phenotype"
[Term]
id: DI-04329
name: Long QT syndrome 14
def: "A form of long QT syndrome, a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy." []
xref: MedGen:CN228133
xref: MeSH:D008133
xref: MIM:616247 "phenotype"
[Term]
id: DI-04330
name: Combined oxidative phosphorylation deficiency 24
def: "An autosomal recessive mitochondrial disorder with wide phenotypic variability. Some patients have a milder form affecting only skeletal muscle, whereas others may have a more severe disorder, reminiscent of Alpers syndrome. Alpers syndrome is a progressive neurodegenerative disorder that presents in infancy or early childhood and is characterized by diffuse degeneration of cerebral gray matter." []
xref: MedGen:CN227915
xref: MeSH:D028361
xref: MIM:616239 "phenotype"
[Term]
id: DI-04331
name: Growth hormone deficiency, isolated partial
def: "A disorder characterized by partial growth hormone deficiency resulting in growth delay and short stature, sometimes associated with recurrent episodes of abdominal pain, vomiting, ketosis and hypoglycemia." []
xref: MedGen:C1858656
xref: MeSH:D004393
xref: MIM:615925 "phenotype"
[Term]
id: DI-04332
name: Combined oxidative phosphorylation deficiency 23
def: "An autosomal recessive mitochondrial disorder characterized by hypertrophic cardiomyopathy and/or neurologic symptoms with onset in early childhood. Disease features include hypertrophic cardiomyopathy, hypotonia, delayed psychomotor development, lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Disease severity is variable, ranging from death in early infancy to survival into the second decade of life." []
xref: MedGen:CN225702
xref: MeSH:D028361
xref: MIM:616198 "phenotype"
[Term]
id: DI-04333
name: Myopathy, isolated mitochondrial, autosomal dominant
def: "A mitochondrial myopathy presenting with severe exercise intolerance, progressive proximal weakness, and lactic acidemia. The disorder is slowly progressive, with later involvement of facial muscles, muscles of the upper limbs, and distal muscles." []
xref: MedGen:CN225582
xref: MeSH:D017240
xref: MIM:616209 "phenotype"
[Term]
id: DI-04334
name: Lissencephaly 6, with microcephaly
def: "A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS6 features include hypoplasia of the corpus callosum, severe microcephaly and developmental delay." []
xref: MedGen:CN225703
xref: MeSH:D054082
xref: MIM:616212 "phenotype"
[Term]
id: DI-04335
name: Thrombocytopenia 5
def: "A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC5 is an autosomal dominant disorder, associated with an increased susceptibility to the development of hematologic and solid malignancies." []
synonym: "Thrombocytopenia 5 with increased susceptibility to malignancy" [UniProt]
synonym: "Thrombocytopenia, autosomal dominant, 5" [UniProt]
xref: MedGen:CN225711
xref: MeSH:D013921
xref: MIM:616216 "phenotype"
[Term]
id: DI-04336
name: Nephronophthisis 19
def: "A form of nephronophthisis, an autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease. NPHP19 patients also manifest hepatosplenomegaly, hepatic fibrosis, destruction of the bile ducts, focal bile ductal proliferation, ductal plate malformation, and cholestasis." []
xref: MedGen:CN225923
xref: MeSH:D052177
xref: MIM:616217 "phenotype"
[Term]
id: DI-04337
name: Fibrosis of extraocular muscles, congenital, 5
def: "An ocular motility disorder characterized by congenital dysinnervation of various cranial nerves to ocular muscles. Clinical features are ophthalmoplegia, anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head." []
xref: MedGen:CN225924
xref: MeSH:D005355
xref: MeSH:D009886
xref: MIM:616219 "phenotype"
[Term]
id: DI-04338
name: Amelogenesis imperfecta 1H
def: "A disorder characterized by defective enamel formation, resulting in hypoplastic and hypomineralized tooth enamel that may be rough, pitted, and/or discolored." []
synonym: "Amelogenesis imperfecta, type 1H" [UniProt]
xref: MedGen:CN225925
xref: MeSH:D000567
xref: MIM:616221 "phenotype"
[Term]
id: DI-04339
name: Myasthenic syndrome, congenital, 15
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness." []
synonym: "CMSWTA" [UniProt]
synonym: "Myasthenic syndrome, congenital, 15, without tubular aggregates" [UniProt]
synonym: "Myasthenic syndrome, congenital, without tubular aggregates" [UniProt]
xref: MedGen:CN226294
xref: MeSH:D020294
xref: MIM:616227 "phenotype"
[Term]
id: DI-04340
name: Myasthenic syndrome, congenital, 14
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS14 is an autosomal recessive form characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound." []
synonym: "CMSTA3" [UniProt]
synonym: "Myasthenic syndrome, congenital, 14, with tubular aggregates" [UniProt]
synonym: "Myasthenic syndrome, congenital, with tubular aggregates, 3" [UniProt]
xref: MedGen:CN226296
xref: MeSH:D020294
xref: MIM:616228 "phenotype"
[Term]
id: DI-04341
name: Epilepsy, progressive myoclonic 8
def: "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM8 is an autosomal recessive form characterized by myoclonus, generalized tonic-clonic seizures and moderate to severe cognitive impairment." []
xref: MedGen:CN226297
xref: MeSH:D020191
xref: MIM:616230 "phenotype"
[Term]
id: DI-04342
name: Myopathy, vacuolar, with CASQ1 aggregates
def: "An autosomal dominant mild muscle disorder characterized by adult onset of muscle cramping and weakness as well as increased levels of serum creatine kinase. The disorder is not progressive, and some patients may be asymptomatic." []
xref: MedGen:CN226298
xref: MeSH:D020914
xref: MIM:616231 "phenotype"
[Term]
id: DI-04343
name: Charcot-Marie-Tooth disease, axonal, 2T
def: "An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy." []
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2T." [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy axonal type 2T." [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy, type 2T." [UniProt]
xref: MedGen:CN226589
xref: MeSH:D002607
xref: MIM:617017 "phenotype"
[Term]
id: DI-04344
name: Amelogenesis imperfecta 1A
def: "A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration." []
synonym: "Amelogenesis imperfecta type IA" [UniProt]
synonym: "Amelogenesis imperfecta, hypoplastic type IA" [UniProt]
xref: MedGen:C0399367
xref: MeSH:D000567
xref: MIM:104530 "phenotype"
[Term]
id: DI-04345
name: Spinal muscular atrophy, Jokela type
def: "An autosomal dominant, slowly progressive, lower motor neuron disease. SMAJ is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder results in weakness and mild muscle atrophy later in life." []
xref: MedGen:C3554398
xref: MedGen:CN165244
xref: MeSH:D009134
xref: MIM:615048 "phenotype"
[Term]
id: DI-04346
name: Ventriculomegaly with cystic kidney disease
def: "A severe autosomal recessive developmental disorder manifesting in utero. It is characterized by cerebral ventriculomegaly, echogenic kidneys, microscopic renal tubular cysts and findings of congenital nephrosis." []
xref: MedGen:C1857423
xref: MeSH:D006849
xref: MeSH:D052177
xref: MIM:219730 "phenotype"
[Term]
id: DI-04347
name: CODAS syndrome
def: "A rare syndrome characterized by the combination of cerebral, ocular, dental, auricular, and skeletal features. These include developmental delay, craniofacial anomalies, cataracts, ptosis, median nasal groove, delayed tooth eruption, hearing loss, short stature, delayed epiphyseal ossification, metaphyseal hip dysplasia, and vertebral coronal clefts." []
synonym: "Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome" [UniProt]
xref: MedGen:C1838180
xref: MeSH:D005124
xref: MeSH:D006130
xref: MeSH:D006618
xref: MeSH:D010009
xref: MeSH:D014071
xref: MeSH:D019465
xref: MIM:600373 "phenotype"
[Term]
id: DI-04348
name: Pontocerebellar hypoplasia 5
def: "A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum. Brain MRI shows an abnormally small cerebellum and brainstem, decreased cerebral white matter, and a thin corpus callosum." []
synonym: "Olivopontocerebellar hypoplasia, fetal-onset" [UniProt]
synonym: "Pontocerebellar hypoplasia type 5" [UniProt]
xref: MedGen:C1857762
xref: MeSH:D002526
xref: MIM:610204 "phenotype"
[Term]
id: DI-04349
name: Meckel syndrome 12
def: "A form of Meckel syndrome, a disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly." []
xref: MedGen:CN228389
xref: MeSH:D002925
xref: MeSH:D004677
xref: MeSH:D007690
xref: MIM:616258 "phenotype"
[Term]
id: DI-04350
name: Peeling skin syndrome 3
def: "A form of peeling skin syndrome, a genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non- inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. PSS3 is characterized by generalized white scaling occurring over the upper and lower extremities. Symptoms start during the second half of the first decade of life." []
xref: MedGen:CN228565
xref: MeSH:D003873
xref: MIM:616265 "phenotype"
[Term]
id: DI-04351
name: Arboleda-Tham syndrome
def: "An autosomal dominant disorder characterized by intellectual disability, dysmorphic facial features, delayed psychomotor development, and lack of speech." []
synonym: "KAT6A syndrome" [UniProt]
synonym: "MRD32" [UniProt]
xref: MedGen:CN228654
xref: MeSH:D008607
xref: MIM:616268 "phenotype"
[Term]
id: DI-04352
name: Tenorio syndrome
def: "A disease characterized by overgrowth, macrocephaly, and intellectual disability. Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome." []
synonym: "Overgrowth, macrocephaly, and intellectual disability syndrome" [UniProt]
xref: MedGen:CN228398
xref: MeSH:D001848
xref: MeSH:D008607
xref: MeSH:D058627
xref: MIM:616260 "phenotype"
[Term]
id: DI-04353
name: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1
def: "A progressive multisystem disease characterized by a variety of neurologic, endocrine, and, in some patients, pancreatic features. Variable clinical symptoms include global developmental delay, hypotonia, hearing loss, ataxia, hyporeflexia, facial dysmorphism, hypothyroidism, and pancreatic insufficiency." []
synonym: "IMNEPD" [UniProt]
xref: MedGen:CN228418
xref: MeSH:D000015
xref: MIM:616263 "phenotype"
[Term]
id: DI-04354
name: Coenzyme Q10 deficiency, primary, 7
def: "An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10, and severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rarely, symptoms may have later onset." []
xref: MedGen:CN228795
xref: MeSH:D028361
xref: MIM:616276 "phenotype"
[Term]
id: DI-04355
name: Congenital contractures of the limbs and face, hypotonia, and developmental delay
def: "A disease characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, abnormal tone, most commonly manifested as hypotonia, and variable degrees of developmental delay." []
xref: MedGen:CN228594
xref: MeSH:D001176
xref: MIM:616266 "phenotype"
[Term]
id: DI-04356
name: Ataxia-oculomotor apraxia 4
def: "An autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia and peripheral neuropathy." []
xref: MedGen:CN228595
xref: MeSH:D001072
xref: MeSH:D002524
xref: MIM:616267 "phenotype"
[Term]
id: DI-04357
name: Intellectual developmental disorder, autosomal recessive 48
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT48 patients show moderate to severe intellectual disability and additional features including progressive tremor, speech impairment, and sometimes behavioral problems." []
xref: MedGen:CN228596
xref: MeSH:D008607
xref: MIM:616269 "phenotype"
[Term]
id: DI-04358
name: Amelogenesis imperfecta 1F
def: "A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. AI1F is characterized by hypoplastic enamel of the primary and secondary dentition." []
synonym: "Amelogenesis imperfecta type IF" [UniProt]
synonym: "Amelogenesis imperfecta, hypoplastic type IF" [UniProt]
xref: MedGen:CN228593
xref: MeSH:D000567
xref: MIM:616270 "phenotype"
[Term]
id: DI-04359
name: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
def: "A severe, autosomal recessive inborn error affecting valine metabolism. Disease features include brain lesions in the basal ganglia, neurodegeneration, delayed psychomotor development, hypotonia, spasticity, and increased lactic acid in serum and cerebral serum fluid." []
xref: MedGen:CN228784
xref: MeSH:D000592
xref: MIM:616277 "phenotype"
[Term]
id: DI-04360
name: Congenital bile acid synthesis defect 5
def: "An autosomal recessive disorder characterized by hepatosplenomegaly, hepatic fibrosis, progressive liver failure, and accumulation of peroxisomal C27-bile acid intermediates in plasma." []
xref: MedGen:CN228775
xref: MeSH:D008107
xref: MIM:616278 "phenotype"
[Term]
id: DI-04361
name: Cataract 43
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function." []
xref: MedGen:CN228776
xref: MeSH:D002386
xref: MIM:616279 "phenotype"
[Term]
id: DI-04362
name: Charcot-Marie-Tooth disease, axonal, 2U
def: "An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2U is a slowly progressive, autosomal dominant form characterized by late-adult onset." []
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2U" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy, type 2U" [UniProt]
xref: MedGen:CN228785
xref: MeSH:D002607
xref: MIM:616280 "phenotype"
[Term]
id: DI-04363
name: Neurodevelopmental disorder with spastic paraplegia and microcephaly
def: "An autosomal recessive syndrome characterized by severe psychomotor developmental delay, dysarthria, walking difficulties, moderately to severely impaired intellectual development, poor or absent speech, and progressive microcephaly." []
synonym: "MRT49" [UniProt]
xref: MedGen:CN228786
xref: MeSH:D008607
xref: MIM:616281 "phenotype"
[Term]
id: DI-04364
name: Spastic paraplegia 73, autosomal dominant
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body." []
xref: MedGen:CN228796
xref: MeSH:D015419
xref: MIM:616282 "phenotype"
[Term]
id: DI-04365
name: 3-methylglutaconic aciduria 7B
def: "An autosomal recessive inborn error of metabolism with a highly variable phenotype. Primary disease symptoms are increased levels of 3-methylglutaconic acid, neurologic deterioration and neutropenia. Other common features include progressive encephalopathy, movement abnormalities, delayed psychomotor development,impaired intellectual development, cataracts, seizures, and recurrent infections." []
synonym: "3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia" [UniProt]
synonym: "3-methylglutaconic aciduria, type VII" [UniProt]
synonym: "3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia" [UniProt]
synonym: "MEGCANN" [UniProt]
synonym: "MGCA7" [UniProt]
xref: MedGen:CN228597
xref: MeSH:D008661
xref: MIM:616271 "phenotype"
[Term]
id: DI-04366
name: Diamond-Blackfan anemia 14, with mandibulofacial dysostosis
def: "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies." []
xref: MedGen:CN228774
xref: MeSH:D029503
xref: MIM:300946 "phenotype"
[Term]
id: DI-04367
name: Cerebrocostomandibular syndrome
def: "A syndrome characterized by severe micrognathia, rib defects ranging from a few dorsal rib segments to complete absence of ossification, and intellectual disability." []
synonym: "CCM syndrome" [UniProt]
synonym: "Cerebro-costo-mandibular syndrome" [UniProt]
synonym: "Rib gap defects with micrognathia" [UniProt]
xref: MedGen:C0265342
xref: MeSH:D001848
xref: MeSH:D008607
xref: MeSH:D008844
xref: MIM:117650 "phenotype"
[Term]
id: DI-04369
name: Oliver-McFarlane syndrome
def: "A rare autosomal recessive, congenital syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies. It results in intellectual impairment and dwarfism, if untreated. Clinical features include hypogonadotropic hypogonadism during puberty, pigmentary retinal degeneration, ataxia, spastic paraplegia, and peripheral neuropathy." []
synonym: "Congenital trichomegaly, pigmentary retinal degeneration, and short stature" [UniProt]
synonym: "Trichomegaly retina pigmentary degeneration dwarfism" [UniProt]
synonym: "Trichomegaly, retina pigmentary degeneration, dwarfism" [UniProt]
xref: MedGen:C1848745
xref: MeSH:D002658
xref: MeSH:D004392
xref: MeSH:D006983
xref: MeSH:D058499
xref: MIM:275400 "phenotype"
[Term]
id: DI-04370
name: Diamond-Blackfan anemia 15, with mandibulofacial dysostosis
def: "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies." []
synonym: "Diamond-Blackfan anemia with microtia and cleft palate" [UniProt]
xref: MedGen:C1853576
xref: MeSH:D029503
xref: MIM:606164 "phenotype"
[Term]
id: DI-04371
name: Premature ovarian failure 10
def: "An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol." []
xref: MedGen:C2752067
xref: MeSH:D016649
xref: MIM:612885 "phenotype"
[Term]
id: DI-04372
name: Laurence-Moon syndrome
def: "An autosomal recessive syndrome characterized by progressive spinocerebellar degeneration, spastic paraplegia, intellectual disability, hypogonadism, dwarfism, and chorioretinopathy. Trichomegaly is absent." []
synonym: "Laurence-Moon-Biedl Syndrome" [UniProt]
xref: MedGen:C0023138
xref: MeSH:D007849
xref: MIM:245800 "phenotype"
[Term]
id: DI-04373
name: Metaphyseal dysplasia, Spahr type
def: "An autosomal recessive, rare disease characterized by moderate short stature, mild genua vara, and radiographic signs of metaphyseal dysplasia, but no biochemical signs of rickets." []
synonym: "Metaphyseal chondrodysplasia, Spahr type" [UniProt]
synonym: "Spahr type metaphyseal chondrodysplasia" [UniProt]
xref: MedGen:C0432225
xref: MeSH:D010009
xref: MIM:250400 "phenotype"
[Term]
id: DI-04374
name: Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type
def: "An autosomal recessive disease characterized by pre- and postnatal short stature, developmental delay, dysmorphic facial appearance, narrow chest, prominent abdomen, platyspondyly, and short limbs." []
synonym: "Chondrodysplasia, Megarbane-Dagher-Melike type" [UniProt]
xref: MedGen:C2750075
xref: MeSH:D010009
xref: MIM:613320 "phenotype"
[Term]
id: DI-04375
name: Keppen-Lubinsky syndrome
def: "A rare disease characterized by severe developmental delay, intellectual disability, severe generalized lipodystrophy, dysmorphic features including microcephaly, large prominent eyes, narrow nasal bridge, tented upper lip, high palate, open mouth, tightly adherent skin, and aged appearance." []
xref: MedGen:C3279800
xref: MeSH:D000015
xref: MIM:614098 "phenotype"
[Term]
id: DI-04376
name: Dystonia 23
def: "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT23 is an autosomal dominant dystonia affecting the face, neck, limbs. Some DYT23 patients manifest generalized myoclonus in addition to progressive action-induced multifocal dystonia." []
xref: MedGen:C3538999
xref: MedGen:CN159223
xref: MeSH:D004421
xref: MIM:614860 "phenotype"
[Term]
id: DI-04377
name: Osteogenesis imperfecta 16
def: "An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI16 is a severe form." []
synonym: "Chromosome 11p11.2 deletion syndrome, 91.3-KB" [UniProt]
synonym: "OI, type XVI" [UniProt]
xref: MedGen:CN226295
xref: MeSH:D010013
xref: MIM:616229 "phenotype"
[Term]
id: DI-04378
name: Lethal congenital contracture syndrome 7
def: "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS7 is a severe axoglial disease characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and motor paralysis leading to death early in the neonatal period." []
xref: MedGen:CN228895
xref: MeSH:D001176
xref: MIM:616286 "phenotype"
[Term]
id: DI-04379
name: Spinocerebellar ataxia, autosomal recessive, 20
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR20 is characterized by cerebellar atrophy, ataxia, coarsened facial features, severely delayed psychomotor development with poor or absent speech, and intellectual disability." []
xref: MedGen:CN230320
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:616354 "phenotype"
[Term]
id: DI-04380
name: Lethal congenital contracture syndrome 8
def: "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS8 is an axoglial form of arthrogryposis multiplex congenita, characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period." []
xref: MedGen:CN228896
xref: MeSH:D001176
xref: MIM:616287 "phenotype"
[Term]
id: DI-04381
name: Optic atrophy 9
def: "A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts." []
xref: MedGen:CN229336
xref: MeSH:D015418
xref: MIM:616289 "phenotype"
[Term]
id: DI-04382
name: Lichtenstein-Knorr syndrome
def: "An autosomal recessive neurologic disorder characterized by progressive cerebellar ataxia and severe progressive sensorineural hearing loss." []
synonym: "SCAR19" [UniProt]
synonym: "Spinocerebellar ataxia, autosomal recessive, 19" [UniProt]
xref: MedGen:CN229337
xref: MeSH:D002524
xref: MeSH:D006319
xref: MIM:616291 "phenotype"
[Term]
id: DI-04383
name: Cole-Carpenter syndrome 1
def: "A form of Cole-Carpenter syndrome, a disorder characterized by features of osteogenesis imperfecta such as bone deformities and severe bone fragility with frequent fractures, in association with craniosynostosis, ocular proptosis, hydrocephalus, growth failure and distinctive facial features. Craniofacial findings include marked frontal bossing, midface hypoplasia, and micrognathia. Despite the craniosynostosis and hydrocephalus, intellectual development is normal. CLCRP1 inheritance is autosomal dominant." []
synonym: "Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features" [UniProt]
xref: MedGen:C1862178
xref: MeSH:D003398
xref: MeSH:D005124
xref: MeSH:D006849
xref: MeSH:D010013
xref: MIM:112240 "phenotype"
[Term]
id: DI-04384
name: Cole-Carpenter syndrome 2
def: "A form of Cole-Carpenter syndrome, a disorder characterized by features of osteogenesis imperfecta such as bone deformities and severe bone fragility with frequent fractures, in association with craniosynostosis, ocular proptosis, hydrocephalus, growth failure and distinctive facial features. Craniofacial findings include marked frontal bossing, midface hypoplasia, and micrognathia. Despite the craniosynostosis and hydrocephalus, intellectual development is normal. CLCRP2 inheritance is autosomal recessive." []
xref: MedGen:CN229492
xref: MeSH:D003398
xref: MeSH:D005124
xref: MeSH:D006849
xref: MeSH:D010013
xref: MIM:616294 "phenotype"
[Term]
id: DI-04385
name: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
def: "An autosomal recessive disease characterized by generalized, continuous shedding of the outer layers of the epidermis, leukonychia, acral punctate keratosis, cheilitis, knuckle pads with multiple hyperkeratotic micropapules involving the interphalangeal joints, and palmoplantar keratoderma." []
xref: MedGen:CN229493
xref: MeSH:D003873
xref: MeSH:D007645
xref: MeSH:D009260
xref: MIM:616295 "phenotype"
[Term]
id: DI-04386
name: Singleton-Merten syndrome 1
def: "An autosomal dominant disorder with variable expression. Core features are marked aortic calcification, dental anomalies, osteopenia, acro- osteolysis, and to a lesser extent glaucoma, psoriasis, muscle weakness, and joint laxity. Dental anomalies include delayed eruption and immature root formation of anterior permanent teeth, early loss of permanent teeth due to short roots, acute root resorption, high caries, and aggressive alveolar bone loss. Additional clinical manifestations include particular facial characteristics and abnormal joint and muscle ligaments." []
xref: MedGen:C0432254
xref: MeSH:D001018
xref: MeSH:D010024
xref: MeSH:D014071
xref: MeSH:D030981
xref: MIM:182250 "phenotype"
[Term]
id: DI-04387
name: Singleton-Merten syndrome 2
def: "A form of Singleton-Merten syndrome, an autosomal dominant disorder characterized by marked aortic calcification, dental anomalies, osteopenia, acro-osteolysis, and to a lesser extent glaucoma, psoriasis, muscle weakness, and joint laxity. Additional clinical manifestations include particular facial characteristics and abnormal joint and muscle ligaments. SGMRT2 is an atypical form characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies." []
xref: MedGen:CN229494
xref: MeSH:D001018
xref: MeSH:D010024
xref: MeSH:D030981
xref: MIM:616298 "phenotype"
[Term]
id: DI-04388
name: Lipoyltransferase 1 deficiency
def: "An autosomal recessive disorder due to a defect in lipoic acid metabolism, resulting in severe lactic acidosis and metabolic decompensation. Variable clinical manifestations include delayed psychomotor development, severe hypotonia, dystonia, loss of head control, coma, bradycardia, and pulmonary hypertension." []
xref: MedGen:CN230008
xref: MeSH:D008661
xref: MIM:616299 "phenotype"
[Term]
id: DI-04389
name: Short-rib thoracic dysplasia 13 with or without polydactyly
def: "A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome." []
xref: MedGen:CN229499
xref: MeSH:D012779
xref: MIM:616300 "phenotype"
[Term]
id: DI-04390
name: Senior-Loken syndrome 8
def: "A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life." []
xref: MedGen:CN229500
xref: MeSH:D052177
xref: MeSH:D057130
xref: MIM:616307 "phenotype"
[Term]
id: DI-04391
name: Intellectual developmental disorder, autosomal dominant 33
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD33 patients manifest microcephaly in addition to intellectual disability." []
xref: MedGen:CN229530
xref: MeSH:D008607
xref: MIM:616311 "phenotype"
[Term]
id: DI-04392
name: Robinow syndrome, autosomal dominant 2
def: "A rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, costovertebral segmentation defects, and renal anomalies." []
xref: MedGen:CN229715
xref: MeSH:D004392
xref: MeSH:D014564
xref: MeSH:D017880
xref: MeSH:D019465
xref: MIM:616331 "phenotype"
[Term]
id: DI-04393
name: Myasthenic syndrome, congenital, 2A, slow-channel
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS2A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane." []
xref: MedGen:CN229747
xref: MeSH:D020294
xref: MIM:616313 "phenotype"
[Term]
id: DI-04394
name: Myasthenic syndrome, congenital, 3A, slow-channel
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS3A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane." []
xref: MedGen:CN229749
xref: MeSH:D020294
xref: MIM:616321 "phenotype"
[Term]
id: DI-04395
name: Myasthenic syndrome, congenital, 3B, fast-channel
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS3B is a fast-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in brief opening and activity of the channel, with a rapid decay in endplate current, failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential." []
xref: MedGen:CN229750
xref: MeSH:D020294
xref: MIM:616322 "phenotype"
[Term]
id: DI-04396
name: Myasthenic syndrome, congenital, 4B, fast-channel
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS4B is a fast-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in brief opening and activity of the channel, with a rapid decay in endplate current, failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential." []
xref: MedGen:CN229752
xref: MeSH:D020294
xref: MIM:616324 "phenotype"
[Term]
id: DI-04397
name: Myasthenic syndrome, congenital, 4A, slow-channel
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS4A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane." []
synonym: "CMS Ia1" [UniProt]
synonym: "CMS1A1" [UniProt]
synonym: "Congenital myasthenic syndrome type Ia1" [UniProt]
synonym: "Myasthenia, familial infantile, 1" [UniProt]
xref: MedGen:C1853949
xref: MeSH:D020294
xref: MIM:605809 "phenotype"
[Term]
id: DI-04398
name: Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS2C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. CMS2C is clinically characterized by early-onset muscle weakness with variable severity." []
xref: MedGen:CN229748
xref: MeSH:D020294
xref: MIM:616314 "phenotype"
[Term]
id: DI-04399
name: Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS3C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current." []
xref: MedGen:CN229751
xref: MeSH:D020294
xref: MIM:616323 "phenotype"
[Term]
id: DI-04400
name: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS9 is a disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current." []
xref: MedGen:CN229753
xref: MeSH:D020294
xref: MIM:616325 "phenotype"
[Term]
id: DI-04401
name: Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS11 is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current." []
synonym: "CMS Ie" [UniProt]
synonym: "CMS1E" [UniProt]
synonym: "Myasthenic syndrome, congenital, Ie" [UniProt]
xref: MedGen:C1837094
xref: MeSH:D020294
xref: MIM:616326 "phenotype"
[Term]
id: DI-04402
name: Myasthenic syndrome, congenital, 17
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort." []
xref: MedGen:CN229746
xref: MeSH:D020294
xref: MIM:616304 "phenotype"
[Term]
id: DI-04403
name: Myasthenic syndrome, congenital, 18
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS18 is an autosomal dominant presynaptic disorder clinically characterized by early-onset muscle weakness and easy fatigability associated with delayed psychomotor development and ataxia." []
synonym: "Myasthenic syndrome, congenital, 18 with intellectual disability and ataxia" [UniProt]
xref: MedGen:CN229755
xref: MeSH:D020294
xref: MIM:616330 "phenotype"
[Term]
id: DI-04404
name: Maturity-onset diabetes of the young 13
def: "A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease." []
synonym: "Maturity-onset diabetes of the young, type 13" [UniProt]
synonym: "MODY type 13" [UniProt]
xref: MedGen:CN229628
xref: MeSH:D003924
xref: MIM:616329 "phenotype"
[Term]
id: DI-04405
name: Anhidrosis, isolated, with normal sweat glands
def: "An autosomal recessive disorder characterized by generalized, isolated anhidrosis, severe heat intolerance, and morphologically normal eccrine sweat glands. Body growth, teeth, hair, nails, and skin are normal." []
synonym: "Anhidrosis, familial generalized, with normal sweat glands" [UniProt]
synonym: "Dann-Epstein-Sohar syndrome" [UniProt]
xref: MedGen:C1862871
xref: MeSH:D007007
xref: MIM:106190 "phenotype"
[Term]
id: DI-04406
name: Kaufman oculocerebrofacial syndrome
def: "A syndrome characterized by blepharophimosis, ptosis, mild upslanting of the palpebral fissures, epicanthus, ectodermal anomalies, developmental delay, and severe intellectual disability with absent speech. Proportionate growth retardation with a small head circumference/microcephaly, congenital malformations, muscular hypotonia, anomalies on brain imaging with hypoplasia of the corpus callosum, and low cholesterol levels are variably present." []
synonym: "Blepharophimosis-ptosis-intellectual disability syndrome" [UniProt]
synonym: "BPID syndrome" [UniProt]
synonym: "BPIDS" [UniProt]
xref: MedGen:C1855663
xref: MedGen:C3808692
xref: MedGen:CN169377
xref: MeSH:D005124
xref: MeSH:D008607
xref: MeSH:D008831
xref: MeSH:D019066
xref: MIM:244450 "phenotype"
[Term]
id: DI-04407
name: Cardiomyopathy, familial hypertrophic, 24
def: "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death." []
xref: MedGen:CN229629
xref: MeSH:D024741
xref: MIM:601493 "phenotype"
[Term]
id: DI-04408
name: Dystonia 26, myoclonic
def: "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT26 is an autosomal dominant, progressive disorder characterized by a combination of non-epileptic myoclonic jerks and dystonia. Affected individuals manifest myoclonic jerks in the upper limbs during the first or second decade of life, and later develop dystonia with predominant involvement of the craniocervical regions and sometimes the trunk and/or lower limbs." []
xref: MedGen:CN230764
xref: MeSH:D004421
xref: MIM:616398 "phenotype"
[Term]
id: DI-04409
name: Linear skin defects with multiple congenital anomalies 3
def: "A disorder characterized by dermal, ocular, neurological and cardiac abnormalities. LSDMCA3 clinical features include linear skin defects on face and neck at birth, lacrimal duct atresia, myopia, nystagmus, strabismus, cardiomyopathy, axial hypotonia, seizures, corpus callosum agenesis, and dilation of lateral ventricles." []
synonym: "Linear skin defects with cardiomyopathy and other congenital anomalies" [UniProt]
xref: MedGen:CN230316
xref: MeSH:D005124
xref: MeSH:D012868
xref: MIM:300952 "phenotype"
[Term]
id: DI-04410
name: Myopathy, lactic acidosis, and sideroblastic anemia 3
def: "A rare mitochondrial disorder characterized by sideroblastic anemia, muscle weakness, and exercise intolerance associated with persistent lactic acidemia. Additional MLASA3 features are failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay." []
xref: MedGen:CN230751
xref: MeSH:D000140
xref: MeSH:D000756
xref: MIM:500011 "phenotype"
[Term]
id: DI-04411
name: Microcephaly and chorioretinopathy, autosomal recessive, 3
def: "A disorder characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus. Variable ocular anomalies include microphthalmia, retinal folding, retinal detachment, optic nerve hypoplasia, absence of retinal vessels, round areas of chorioretinal atrophy, and attenuated electroretinogram. Most patients have mild developmental delay and mild learning difficulties." []
xref: MedGen:CN230160
xref: MeSH:D008831
xref: MeSH:D012164
xref: MIM:616335 "phenotype"
[Term]
id: DI-04412
name: Developmental and epileptic encephalopathy 29
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE29 patients manifest severe infantile epileptic encephalopathy, clubfoot, absent deep tendon reflexes, extrapyramidal symptoms, and persistently deficient myelination." []
synonym: "EIEE29" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 29" [UniProt]
xref: MedGen:CN230131
xref: MeSH:D013036
xref: MIM:616339 "phenotype"
[Term]
id: DI-04413
name: Developmental and epileptic encephalopathy 30
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent." []
synonym: "EIEE30" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 30" [UniProt]
xref: MedGen:CN230133
xref: MeSH:D013036
xref: MIM:616341 "phenotype"
[Term]
id: DI-04414
name: Developmental and epileptic encephalopathy 31A
def: "An autosomal dominant epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent." []
synonym: "DEE31" [UniProt]
synonym: "Developmental and epileptic encephalopathy 31" [UniProt]
synonym: "EIEE31" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 31" [UniProt]
xref: MedGen:CN230178
xref: MeSH:D013036
xref: MIM:616346 "phenotype"
[Term]
id: DI-04415
name: Developmental and epileptic encephalopathy 32
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE32 inheritance is autosomal dominant." []
synonym: "EIEE32" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 32" [UniProt]
xref: MedGen:CN230321
xref: MeSH:D013036
xref: MIM:616366 "phenotype"
[Term]
id: DI-04416
name: Deafness, autosomal dominant, 67
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN230132
xref: MeSH:D006319
xref: MIM:616340 "phenotype"
[Term]
id: DI-04417
name: Deafness, autosomal dominant, 40
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN230313
xref: MeSH:D006319
xref: MIM:616357 "phenotype"
[Term]
id: DI-04418
name: Intellectual developmental disorder, autosomal dominant 34
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:CN230269
xref: MeSH:D008607
xref: MIM:616351 "phenotype"
[Term]
id: DI-04419
name: Houge-Janssens syndrome 1
def: "An autosomal dominant disorder characterized by global developmental delay, hypotonia, variably impaired intellectual development, poor speech, and dysmorphic facial features. Additional more variable features may include macrocephaly and seizures." []
synonym: "Intellectual developmental disorder, autosomal dominant 35" [UniProt]
synonym: "MRD35" [UniProt]
xref: MedGen:CN230312
xref: MeSH:D008607
xref: MIM:616355 "phenotype"
[Term]
id: DI-04420
name: Houge-Janssens syndrome 2
def: "An autosomal dominant disorder characterized by global developmental delay, hypotonia, variably impaired intellectual development, poor speech, and dysmorphic facial features. Some patients may develop seizures." []
synonym: "Intellectual developmental disorder, autosomal dominant 36" [UniProt]
synonym: "MRD36" [UniProt]
xref: MedGen:CN230319
xref: MeSH:D008607
xref: MIM:616362 "phenotype"
[Term]
id: DI-04421
name: White-Sutton syndrome
def: "An autosomal dominant syndrome characterized by developmental delay, intellectual disability, hypotonia, behavioral abnormalities, and dysmorphic facial features. Variable features include short stature, microcephaly, strabismus and hearing loss." []
synonym: "MRD37" [UniProt]
xref: MedGen:CN230318
xref: MeSH:D008607
xref: MIM:616364 "phenotype"
[Term]
id: DI-04422
name: Lissencephaly 7, with cerebellar hypoplasia
def: "A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS7 patients manifest lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy." []
xref: MedGen:CN230161
xref: MeSH:D054082
xref: MIM:616342 "phenotype"
[Term]
id: DI-04423
name: Immunodeficiency 39
def: "A primary immunodeficiency causing severe, life-threatening acute respiratory distress upon infection with H1N1 influenza A." []
xref: MedGen:CN230175
xref: MeSH:D007153
xref: MIM:616345 "phenotype"
[Term]
id: DI-04424
name: Dyskeratosis congenita, autosomal recessive, 6
def: "A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy." []
xref: MedGen:CN230311
xref: MeSH:D019871
xref: MIM:616353 "phenotype"
[Term]
id: DI-04425
name: Parkinson disease 21
def: "An autosomal dominant form of adult-onset Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain." []
xref: MedGen:CN230317
xref: MeSH:D020734
xref: MIM:616361 "phenotype"
[Term]
id: DI-04426
name: Mandibulofacial dysostosis with alopecia
def: "A form of mandibulofacial dysostosis, a disorder characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids. MFDA features include maxillary dysmorphism with dysplastic zygomatic arch, hypoplastic mandible, scalp alopecia, scant eyebrows and eyelashes, severe hypoplasia or aplasia of eyelids, small cupped dysplastic ears, conductive hearing loss, cleft palate, dental anomalies, micrognathia, and limited jaw mobility." []
xref: MedGen:CN230322
xref: MeSH:D008342
xref: MIM:616367 "phenotype"
[Term]
id: DI-04427
name: CHOPS syndrome
def: "A syndrome characterized by cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia." []
xref: MedGen:CN230323
xref: MeSH:D000015
xref: MIM:616368 "phenotype"
[Term]
id: DI-04429
name: Multiple mitochondrial dysfunctions syndrome 4
def: "A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death." []
xref: MedGen:CN230442
xref: MeSH:D028361
xref: MIM:616370 "phenotype"
[Term]
id: DI-04430
name: Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 4
def: "An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length." []
xref: MedGen:CN230445
xref: MeSH:D000080983
xref: MeSH:D011658
xref: MIM:616371 "phenotype"
[Term]
id: DI-04431
name: Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 3
def: "An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length." []
xref: MedGen:CN230446
xref: MeSH:D000080983
xref: MeSH:D011658
xref: MIM:616373 "phenotype"
[Term]
id: DI-04432
name: Night blindness, congenital stationary, 1G
def: "An autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days." []
xref: MedGen:CN230732
xref: MeSH:D009755
xref: MIM:616389 "phenotype"
[Term]
id: DI-04433
name: Trichothiodystrophy 2, photosensitive
def: "A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder." []
xref: MedGen:CN230761
xref: MeSH:D054463
xref: MIM:616390 "phenotype"
[Term]
id: DI-04434
name: Trichothiodystrophy 3, photosensitive
def: "A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder." []
synonym: "Trichothiodystrophy, complementation group A" [UniProt]
synonym: "TTDA" [UniProt]
xref: MedGen:CN230763
xref: MeSH:D054463
xref: MIM:616395 "phenotype"
[Term]
id: DI-04435
name: Retinitis pigmentosa 71
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:CN230762
xref: MeSH:D012174
xref: MIM:616394 "phenotype"
[Term]
id: DI-04436
name: Dystonia 2, torsion, autosomal recessive
def: "A form of torsion dystonia, a disease defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. 'Torsion' refers to the twisting nature of body movements, often affecting the trunk. DYT2 is a slowly progressive form that first affects distal limbs and later involves the neck, orofacial, and craniocervical regions." []
synonym: "Dystonia musculorum deformans 2" [UniProt]
synonym: "Torsion dystonia 2" [UniProt]
xref: MedGen:C1857093
xref: MeSH:D004422
xref: MIM:224500 "phenotype"
[Term]
id: DI-04437
name: Tortuosity of retinal arteries
def: "A disease characterized by marked tortuosity of second- and third- order retinal arteries with normal first-order arteries and venous system. Most patients manifest variable degrees of symptomatic transient vision loss due to retinal hemorrhage following minor stress or trauma." []
synonym: "Retinal arteries, tortuosity of" [UniProt]
synonym: "Retinal hemorrhage with vascular tortuosity" [UniProt]
xref: MedGen:C1867327
xref: MeSH:D012166
xref: MIM:180000 "phenotype"
[Term]
id: DI-04438
name: Mitochondrial myopathy with lactic acidosis
def: "An autosomal recessive disorder characterized by progressive muscle weakness, hypotonia, seizures, poor weight gain, lactic acidosis, and elevated serum pyruvate concentration. Some patients manifest growth failure and moderate neural deafness." []
xref: MedGen:C1855033
xref: MeSH:D017240
xref: MIM:251950 "phenotype"
[Term]
id: DI-04439
name: Retinal dystrophy, early-onset, with or without pituitary dysfunction
def: "An autosomal dominant ocular disease characterized by pattern dystrophy of the retinal pigment epithelium, and photoreceptor degeneration. Mild developmental anomalies include optic nerve head dysplasia, microcornea, and Rathke's cleft cyst. Some patients manifest pituitary dysfunction." []
xref: MedGen:C3149814
xref: MeSH:D058499
xref: MIM:610125 "phenotype"
[Term]
id: DI-04440
name: Cardiomyopathy, familial hypertrophic, 23, with or without left ventricular non-compaction
def: "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death." []
synonym: "Cardiomyopathy, familial hypertrophic 23, with or without LVNC" [UniProt]
xref: MedGen:C2677338
xref: MeSH:D024741
xref: MIM:612158 "phenotype"
[Term]
id: DI-04441
name: Lactate dehydrogenase B deficiency
def: "A condition with no deleterious effects on health. LDHBD is of interest to laboratory medicine mainly because it can cause misdiagnosis in those disorders in which elevation of serum LDH is expected." []
xref: MedGen:C1835592
xref: MedGen:C3279904
xref: MIM:614128 "phenotype"
[Term]
id: DI-04442
name: Trichothiodystrophy 5, non-photosensitive
def: "An X-linked form of trichothiodystrophy, a disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD5 features include microcephaly, profound intellectual disability, sparse brittle hair, aged appearance, short stature, facial dysmorphism, seizures, an immunoglobulin deficiency, multiple endocrine abnormalities, cerebellar hypoplasia and partial absence of the corpus callosum, in the absence of cellular photosensitivity and ichthyosis." []
xref: MedGen:CN231313
xref: MeSH:D054463
xref: MIM:300953 "phenotype"
[Term]
id: DI-04443
name: Intellectual developmental disorder, autosomal dominant 38
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD38 common features are severe intellectual disability, autistic behavior, absent speech, neonatal hypotonia, epilepsy and progressive microcephaly." []
synonym: "PRELDS" [UniProt]
synonym: "Psychomotor retardation, epilepsy, and language disability syndrome" [UniProt]
xref: MedGen:CN231146
xref: MeSH:D008607
xref: MIM:616393 "phenotype"
[Term]
id: DI-04444
name: Brugada syndrome 9
def: "A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset." []
xref: MedGen:CN231147
xref: MeSH:D053840
xref: MIM:616399 "phenotype"
[Term]
id: DI-04445
name: Palmoplantar keratoderma, non-epidermolytic, focal 2
def: "A dermatological disorder characterized by non-epidermolytic, abnormal thickening of the skin on the palms and soles. Focal palmoplantar keratoderma consists of localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction." []
xref: MedGen:CN231148
xref: MeSH:D007645
xref: MIM:616400 "phenotype"
[Term]
id: DI-04446
name: Microcephaly 14, primary, autosomal recessive
def: "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small." []
xref: MedGen:CN231127
xref: MeSH:D008831
xref: MIM:616402 "phenotype"
[Term]
id: DI-04447
name: Developmental and epileptic encephalopathy 33
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent." []
synonym: "EIEE33" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 33" [UniProt]
xref: MedGen:CN231149
xref: MeSH:D013036
xref: MIM:616409 "phenotype"
[Term]
id: DI-04448
name: Spinocerebellar ataxia 41
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord." []
xref: MedGen:CN231150
xref: MeSH:D020754
xref: MIM:616410 "phenotype"
[Term]
id: DI-04449
name: Dystonia 27
def: "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT27 is an autosomal recessive form characterized by segmental isolated dystonia involving the face, neck, bulbar muscles, and upper limbs." []
xref: MedGen:CN231151
xref: MeSH:D004421
xref: MIM:616411 "phenotype"
[Term]
id: DI-04450
name: Leukodystrophy, hypomyelinating, 10
def: "An autosomal recessive neurologic disorder characterized by postnatal microcephaly, severely delayed psychomotor development, hypomyelination, and reduced cerebral white-matter volume." []
xref: MedGen:CN231317
xref: MeSH:D020279
xref: MIM:616420 "phenotype"
[Term]
id: DI-04451
name: Nevus spilus
def: "A congenital hyperpigmented patch, which progressively evolves, developing dark macules and papules during childhood and adolescence. Over time, nevus spilus may give rise to common lentigines, melanocytic nevi, Spitz nevi, and melanoma." []
synonym: "Nevoid lentigo" [UniProt]
synonym: "Speckled lentiginous nevus" [UniProt]
xref: MedGen:C0346099
xref: MeSH:D007911
xref: MeSH:D009508
xref: MIM:137550 "phenotype"
[Term]
id: DI-04452
name: Spitz nevus
def: "A benign melanocytic neoplasm composed of epithelioid or spindle cell melanocytes. Spitz nevi usually present as solitary skin tumors but can occur in multiple patterns, having agminated, dermatomal, and disseminated forms." []
synonym: "Nevus, spindle cell and epithelioid" [UniProt]
synonym: "Nevus, Spitz" [UniProt]
synonym: "Spindle cell and epithelioid nevus" [UniProt]
xref: MedGen:C0206739
xref: MeSH:D018332
xref: MIM:137550 "phenotype"
[Term]
id: DI-04453
name: Basal ganglia calcification, idiopathic, 6
def: "A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas." []
xref: MedGen:CN231252
xref: MeSH:D001480
xref: MeSH:D002114
xref: MIM:616413 "phenotype"
[Term]
id: DI-04454
name: Autoimmune interstitial lung, joint, and kidney disease
def: "An autoimmune disease characterized by inflammatory arthritis, interstitial lung disease, and immune complex-mediated renal disease." []
xref: MedGen:C0231330
xref: MeSH:D001327
xref: MIM:616414 "phenotype"
[Term]
id: DI-04455
name: Familial adenomatous polyposis 3
def: "A form of familial adenomatous polyposis, a condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma." []
xref: MedGen:CN231254
xref: MeSH:D018256
xref: MIM:616415 "phenotype"
[Term]
id: DI-04456
name: Hypomagnesemia, seizures, and impaired intellectual development 1
def: "A disease characterized by renal wasting of magnesium, low serum magnesium, seizures, and variable degrees of delayed psychomotor development." []
xref: MedGen:CN231255
xref: MeSH:D008607
xref: MeSH:D012640
xref: MeSH:D015499
xref: MIM:616418 "phenotype"
[Term]
id: DI-04457
name: Myoclonic-atonic epilepsy
def: "A form of epilepsy characterized by myoclonic-atonic and absence seizures, appearing in early childhood. Patients have delayed development before the onset of seizures and show varying degrees of intellectual disability following seizure onset." []
xref: MedGen:CN231318
xref: MeSH:D004831
xref: MeSH:D004832
xref: MIM:616421 "phenotype"
[Term]
id: DI-04458
name: 46,XY sex reversal 10
def: "A disorder of sex development. Affected individuals have a 46,XY karyotype, show gonadal dysgenesis with streak gonads, look like normal females at birth, do not develop secondary sexual characteristics at puberty and do not menstruate." []
synonym: "Chromosome 17q24 deletion syndrome" [UniProt]
xref: MedGen:CN231316
xref: MeSH:D006061
xref: MIM:616425 "phenotype"
[Term]
id: DI-04459
name: Microphthalmia/Coloboma 10
def: "A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure)." []
synonym: "Microphthalmia, isolated, with coloboma, 10" [UniProt]
xref: MedGen:CN231314
xref: MeSH:D003103
xref: MeSH:D008850
xref: MIM:616428 "phenotype"
[Term]
id: DI-04460
name: Combined oxidative phosphorylation deficiency 25
def: "A mitochondrial disorder resulting in developmental delay, growth failure, and sensorineural hearing loss." []
xref: MedGen:CN231322
xref: MeSH:D028361
xref: MIM:616430 "phenotype"
[Term]
id: DI-04461
name: Immunodeficiency 40
def: "A form of combined immunodeficiency characterized by lymphopenia, and defective T-cell, B-cell, and NK-cell responses. Patients suffer from severe invasive bacterial and viral infections in early childhood and may die without bone marrow transplantation." []
xref: MedGen:CN231324
xref: MeSH:D016511
xref: MIM:616433 "phenotype"
[Term]
id: DI-04462
name: Fanconi anemia complementation group T
def: "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair." []
xref: MedGen:CN231325
xref: MeSH:D005199
xref: MIM:616435 "phenotype"
[Term]
id: DI-04463
name: Epilepsy, familial temporal lobe, 7
def: "A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature." []
xref: MedGen:CN231326
xref: MeSH:D004833
xref: MIM:616436 "phenotype"
[Term]
id: DI-04464
name: Hypertension and brachydactyly syndrome
def: "A syndrome characterized by brachydactyly type E, severe salt- independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, and altered baroreflex blood pressure regulation. It results in death from stroke before age 50 years when untreated. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals." []
synonym: "Bilginturan syndrome" [UniProt]
synonym: "Brachydactyly type E with short stature and hypertension" [UniProt]
synonym: "Brachydactyly with hypertension" [UniProt]
synonym: "Brachydactyly, type E, with short stature and hypertension" [UniProt]
xref: MedGen:C1862170
xref: MeSH:D006973
xref: MeSH:D059327
xref: MIM:112410 "phenotype"
[Term]
id: DI-04465
name: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
def: "A syndrome characterized by sparse hair, lymphatic edemas, peripheral vein anomalies, and renal disease." []
synonym: "Glomerulonephritis with sparse hair and telangiectases" [UniProt]
synonym: "Telangiectatic membranoproliferative glomerulonephritis" [UniProt]
xref: MedGen:C1841989
xref: MeSH:D005921
xref: MeSH:D007039
xref: MeSH:D008209
xref: MeSH:D013684
xref: MIM:137940 "phenotype"
[Term]
id: DI-04466
name: Congenital myopathy 7B, myosin storage, autosomal recessive
def: "A skeletal muscle disorder characterized by the onset of scapuloperoneal muscle weakness in early childhood or young adulthood. Affected individuals have difficulty walking, steppage gait, and scapular winging due to shoulder girdle involvement. The severity and progression of the disorder is highly variable. Most patients develop respiratory insufficiency and restrictive lung disease. Some develop hypertrophic cardiomyopathy. Histopathological examination shows variable findings including subsarcolemmal hyaline bodies in type 1 fibers." []
synonym: "MSMB" [UniProt]
synonym: "Myopathy, hyaline body, autosomal recessive" [UniProt]
synonym: "Myopathy, myosin storage, autosomal recessive" [UniProt]
xref: MedGen:C1850709
xref: MeSH:D009135
xref: MIM:255160 "phenotype"
[Term]
id: DI-04467
name: Spermatogenic failure, X-linked, 2
def: "An infertility disorder caused by spermatogenesis defects. It is characterized by mixed testicular atrophy and azoospermia with meiotic arrest." []
synonym: "Male infertility from defect in meiosis" [UniProt]
xref: MedGen:C1839841
xref: MeSH:D007248
xref: MIM:309120 "phenotype"
[Term]
id: DI-04468
name: Ayme-Gripp syndrome
def: "A multisystem disorder characterized by congenital cataracts, sensorineural deafness, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth." []
xref: MedGen:C1832812
xref: MeSH:D002386
xref: MeSH:D006130
xref: MeSH:D006319
xref: MeSH:D008607
xref: MeSH:D019066
xref: MIM:601088 "phenotype"
[Term]
id: DI-04469
name: Epilepsy, familial adult myoclonic, 2
def: "A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME2 inheritance is autosomal dominant." []
synonym: "ADCME" [UniProt]
synonym: "BAFME2" [UniProt]
synonym: "Benign adult familial myoclonic epilepsy 2" [UniProt]
synonym: "Cortical myoclonic tremor with epilepsy, familial, 2" [UniProt]
synonym: "Cortical myoclonus and epilepsy, autosomal dominant" [UniProt]
synonym: "FCMTE2" [UniProt]
xref: MedGen:C1842852
xref: MeSH:D004831
xref: MIM:607876 "phenotype"
[Term]
id: DI-04470
name: Pontocerebellar hypoplasia 3
def: "A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum. Brain MRI shows an abnormally small cerebellum and brainstem, decreased cerebral white matter, and a thin corpus callosum. PCH3 features include seizures, short stature, optic atrophy, progressive microcephaly, severe developmental delay." []
synonym: "Cerebellar atrophy with progressive microcephaly" [UniProt]
synonym: "CLAM" [UniProt]
synonym: "PCH with optic atrophy" [UniProt]
xref: MedGen:C1842687
xref: MeSH:D002526
xref: MIM:608027 "phenotype"
[Term]
id: DI-04471
name: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
def: "A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. Some FTDALS3 patients may also develop Paget disease of bone." []
xref: MedGen:CN231386
xref: MeSH:D000690
xref: MeSH:D057174
xref: MIM:616437 "phenotype"
[Term]
id: DI-04472
name: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
def: "A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis." []
xref: MedGen:CN231440
xref: MeSH:D000690
xref: MeSH:D057174
xref: MIM:616439 "phenotype"
[Term]
id: DI-04473
name: Candidiasis, familial, 9
def: "A disorder characterized by altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans." []
xref: MedGen:CN231436
xref: MeSH:D002178
xref: MIM:616445 "phenotype"
[Term]
id: DI-04474
name: Basel-Vanagaite-Smirin-Yosef syndrome
def: "An autosomal recessive syndrome characterized by eye, brain, cardiac and palatal abnormalities as well as growth retardation, microcephaly and severe intellectual disability." []
xref: MedGen:CN231442
xref: MeSH:D000015
xref: MIM:616449 "phenotype"
[Term]
id: DI-04475
name: Spastic paraplegia 74, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG74 is characterized by a combination of spastic paraplegia, optic atrophy, and peripheral neuropathy with childhood-onset and slow progression into late adulthood." []
xref: MedGen:CN231443
xref: MeSH:D015419
xref: MIM:616451 "phenotype"
[Term]
id: DI-04476
name: B-cell expansion with NFKB and T-cell anergy
def: "An autosomal dominant condition characterized by onset in infancy of splenomegaly and polyclonal expansion of B cells, resulting in peripheral lymphocytosis. Affected individuals also show mild immune dysfunction, including some defective antibody responses and T-cell anergy. There may be a predisposition to the development of B-cell malignancy." []
xref: MedGen:CN231446
xref: MeSH:D008218
xref: MIM:616452 "phenotype"
[Term]
id: DI-04477
name: Zimmermann-Laband syndrome 1
def: "A form of Zimmermann-Laband syndrome, a rare developmental disorder characterized by facial dysmorphism with bulbous nose and thick floppy ears, gingival enlargement, hypoplasia or aplasia of terminal phalanges and nails, hypertrichosis, joint hyperextensibility, and hepatosplenomegaly. Some patients manifest intellectual disability with or without epilepsy. ZLS1 inheritance is autosomal dominant." []
synonym: "Fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly" [UniProt]
synonym: "Gingival fibromatosis, abnormal fingers, fingernails, nose and ears and splenomegaly" [UniProt]
synonym: "Laband syndrome" [UniProt]
synonym: "Zimmermann Laband syndrome" [UniProt]
xref: MedGen:C0796013
xref: MeSH:D000015
xref: MIM:135500 "phenotype"
[Term]
id: DI-04478
name: Zimmermann-Laband syndrome 2
def: "A form of Zimmermann-Laband syndrome, a rare developmental disorder characterized by facial dysmorphism with bulbous nose and thick floppy ears, gingival enlargement, hypoplasia or aplasia of terminal phalanges and nails, hypertrichosis, joint hyperextensibility, and hepatosplenomegaly. Some patients manifest intellectual disability with or without epilepsy. ZLS2 inheritance is autosomal dominant." []
xref: MedGen:CN231441
xref: MeSH:D000015
xref: MIM:616455 "phenotype"
[Term]
id: DI-04479
name: Developmental and epileptic encephalopathy 50
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE50 is an autosomal recessive, progressive disease with onset in infancy and favorable response to treatment with oral uridine." []
synonym: "CDG1Z" [UniProt]
synonym: "Congenital disorder of glycosylation 1Z" [UniProt]
synonym: "EIEE50" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 50" [UniProt]
xref: MedGen:CN231447
xref: MeSH:D013036
xref: MeSH:D018981
xref: MIM:616457 "phenotype"
[Term]
id: DI-04480
name: Al-Raqad syndrome
def: "A syndrome characterized by delayed psychomotor development, moderate to severe intellectual disability, poor or absent speech, microcephaly, congenital hypotonia, and severe growth delay." []
xref: MedGen:CN231448
xref: MeSH:D000015
xref: MIM:616459 "phenotype"
[Term]
id: DI-04481
name: Intellectual developmental disorder, autosomal recessive 50
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT50 patients show mild intellectual disability and microcephaly." []
xref: MedGen:CN231449
xref: MeSH:D008607
xref: MIM:616460 "phenotype"
[Term]
id: DI-04482
name: Epilepsy, familial temporal lobe, 8
def: "A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature." []
xref: MedGen:CN231450
xref: MeSH:D004833
xref: MIM:616461 "phenotype"
[Term]
id: DI-04483
name: Acrofacial dysostosis, Cincinnati type
def: "A form of acrofacial dysostosis, a group of disorders characterized by malformations of the craniofacial skeleton and, in some patients, the limbs. AFDCIN patients may also have structural cardiac defects and neurologic abnormalities including developmental delay, hypotonia, motor delay and seizures. AFDCIN inheritance is autosomal dominant." []
xref: MedGen:CN231445
xref: MeSH:D008342
xref: MIM:616462 "phenotype"
[Term]
id: DI-04484
name: Vitreoretinopathy, exudative 6
def: "A form of exudative vitreoretinopathy, a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery." []
xref: MedGen:CN231687
xref: MeSH:D012164
xref: MIM:616468 "phenotype"
[Term]
id: DI-04485
name: Retinitis pigmentosa 72
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:CN231688
xref: MeSH:D012174
xref: MIM:616469 "phenotype"
[Term]
id: DI-04486
name: Ullrich congenital muscular dystrophy 2
def: "A form of Ullrich congenital muscular dystrophy, a disease characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis (rough skin). More severely affected patients manifest at birth and never achieve independent ambulation, while patients with milder phenotypes might maintain ambulation into adulthood. UCMD2 is a severe, autosomal recessive form with onset at birth." []
xref: MedGen:CN231482
xref: MeSH:D009136
xref: MIM:616470 "phenotype"
[Term]
id: DI-04487
name: Bethlem myopathy 2
def: "A form of Bethlem myopathy, a slowly progressive muscular dystrophy characterized by joint contractures, most frequently affecting the elbows and ankles, and muscle weakness and wasting involving the proximal and extensor muscles more than the distal and flexor ones. The clinical onset more often occurs in childhood or adulthood, but it can be prenatal with decreased fetal movements or neonatal with hypotonia. The hallmark of Bethlem myopathy is long finger flexion contractures. BTHLM2 inheritance is autosomal dominant." []
synonym: "EDS, myopathic" [UniProt]
synonym: "EDSMYP" [UniProt]
synonym: "Ehlers-Danlos syndrome, myopathic" [UniProt]
xref: MedGen:CN231483
xref: MeSH:D009136
xref: MIM:616471 "phenotype"
[Term]
id: DI-04488
name: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
def: "A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB2 patients manifest exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia, such as impaired gait and dysarthria. Some patients may have respiratory insufficiency." []
xref: MedGen:CN231730
xref: MeSH:D017246
xref: MIM:616479 "phenotype"
[Term]
id: DI-04489
name: Ciliary dyskinesia, primary, 32
def: "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia." []
synonym: "Ciliary dyskinesia, primary, 32, without situs inversus" [UniProt]
xref: MedGen:CN231728
xref: MeSH:D007619
xref: MIM:616481 "phenotype"
[Term]
id: DI-04490
name: Achondroplasia, severe, with developmental delay and acanthosis nigricans
def: "A severe form of achondroplasia associated with developmental delay and acanthosis nigricans. Patients manifest short-limb dwarfism, with a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. Acanthosis nigricans is a skin condition characterized by brown-pigmented, velvety verrucosities in body folds and creases." []
synonym: "SADDAN dysplasia" [UniProt]
xref: MedGen:CN231689
xref: MeSH:D000130
xref: MIM:616482 "phenotype"
[Term]
id: DI-04491
name: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities
def: "An autosomal recessive disorder characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity. Brain imaging usually shows abnormalities, including enlarged ventricles, white matter defects, and atrophy or hypoplasia of brain tissue. Some patients have a more severe phenotype with seizures, lack of developmental milestones, and early death." []
synonym: "MCPH15" [UniProt]
synonym: "Microcephaly 15, primary, autosomal recessive" [UniProt]
xref: MedGen:CN231738
xref: MeSH:D008831
xref: MIM:616486 "phenotype"
[Term]
id: DI-04492
name: Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive
def: "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. EBS5D patients have generalized skin blistering that heals with scarring and hyperpigmentation, and severe nail dystrophy. Mucous membranes, heart, and muscle are spared." []
synonym: "EBSND" [UniProt]
synonym: "Epidermolysis bullosa simplex with nail dystrophy" [UniProt]
xref: MedGen:CN231724
xref: MeSH:D016110
xref: MIM:616487 "phenotype"
[Term]
id: DI-04493
name: Neuropathy, hereditary sensory and autonomic, 8
def: "A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN8 patients manifest congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. Some patients may also have decreased sweating and tear production." []
synonym: "Hereditary sensory and autonomic neuropathy type VIII" [UniProt]
synonym: "HSAN VIII" [UniProt]
xref: MedGen:CN231731
xref: MeSH:D009477
xref: MIM:616488 "phenotype"
[Term]
id: DI-04494
name: Silver-Russell syndrome 3
def: "A form of Silver-Russell syndrome, a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. SRS3 inheritance is autosomal dominant." []
synonym: "GRDF" [UniProt]
synonym: "Growth restriction, severe, with distinctive facies" [UniProt]
xref: MedGen:CN231729
xref: MeSH:D004392
xref: MIM:616489 "phenotype"
[Term]
id: DI-04495
name: Joubert syndrome 23
def: "A mild form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly." []
xref: MedGen:CN231732
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:616490 "phenotype"
[Term]
id: DI-04496
name: Charcot-Marie-Tooth disease, axonal, 2V
def: "An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2V is an autosomal dominant sensory neuropathy with late onset. The main clinical feature is recurrent leg pain that progresses to constant painful paraesthesias in the feet and later the hands. As it evolves, some patients develop a mild sensory ataxia." []
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V" [UniProt]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2V" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy, type 2V" [UniProt]
xref: MedGen:CN231733
xref: MeSH:D002607
xref: MIM:616491 "phenotype"
[Term]
id: DI-04497
name: Leukodystrophy, hypomyelinating, 11
def: "An autosomal recessive neurologic disorder characterized by brain hypomyelination, delayed psychomotor development, intellectual disability, tremor and other neurologic symptoms. Some patients may additionally manifest non-neurologic features, particularly dental abnormalities and hypogonadotropic hypogonadism." []
synonym: "4H leukodystrophy 3" [UniProt]
xref: MedGen:CN231734
xref: MeSH:D020279
xref: MIM:616494 "phenotype"
[Term]
id: DI-04498
name: Intellectual developmental disorder, autosomal dominant 39
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD39 patients show delayed psychomotor development and autistic features." []
xref: MedGen:CN232386
xref: MeSH:D008607
xref: MIM:616521 "phenotype"
[Term]
id: DI-04499
name: Achromatopsia 7
def: "A form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus." []
xref: MedGen:C4225297
xref: MeSH:D003117
xref: MIM:616517 "phenotype"
[Term]
id: DI-04500
name: Deafness, autosomal recessive, 104
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN232324
xref: MeSH:D006319
xref: MIM:616515 "phenotype"
[Term]
id: DI-04501
name: Maturity-onset diabetes of the young 14
def: "A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease." []
synonym: "Maturity-onset diabetes of the young, type 14" [UniProt]
xref: MedGen:CN232143
xref: MeSH:D003924
xref: MIM:616511 "phenotype"
[Term]
id: DI-04502
name: Cataract 44
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function." []
synonym: "Cataract and hypotrichosis" [UniProt]
xref: MedGen:CN232096
xref: MeSH:D002386
xref: MIM:616509 "phenotype"
[Term]
id: DI-04503
name: Osteogenesis imperfecta 17
def: "An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae." []
synonym: "Osteogenesis imperfecta, type XVII" [UniProt]
xref: MedGen:CN232082
xref: MeSH:D010013
xref: MIM:616507 "phenotype"
[Term]
id: DI-04504
name: Lethal congenital contracture syndrome 9
def: "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth." []
xref: MedGen:CN235582
xref: MeSH:D001176
xref: MIM:616503 "phenotype"
[Term]
id: DI-04505
name: Cone-rod dystrophy 21
def: "A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors." []
synonym: "Retinal dystrophy with early macular involvement" [UniProt]
xref: MedGen:CN231743
xref: MeSH:D058499
xref: MIM:616502 "phenotype"
[Term]
id: DI-04506
name: Mitochondrial complex IV deficiency, nuclear type 9
def: "An autosomal recessive, infantile disorder with a fatal course in the first weeks of life, and characterized by hypertrophic cardiomyopathy and mitochondrial complex IV deficiency. Postmortem microscopic investigations show accumulation of lipid droplets in cardiomyocytes and mitochondrial proliferation." []
synonym: "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3" [UniProt]
synonym: "CEMCOX3" [UniProt]
xref: MedGen:CN231741
xref: MeSH:D002312
xref: MeSH:D017237
xref: MeSH:D030401
xref: MIM:616500 "phenotype"
[Term]
id: DI-04507
name: Mitochondrial complex IV deficiency, nuclear type 13
def: "An autosomal recessive, infantile disorder with a fatal course in the first weeks of life, characterized by hypertrophic cardiomyopathy, left ventricular non-compaction, lactic acidosis, metabolic hypotonia, and mitochondrial complex IV deficiency." []
synonym: "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4" [UniProt]
synonym: "CEMCOX4" [UniProt]
xref: MedGen:CN231742
xref: MeSH:D002312
xref: MeSH:D017237
xref: MeSH:D030401
xref: MIM:616501 "phenotype"
[Term]
id: DI-04508
name: Short stature with non-specific skeletal abnormalities
def: "A condition characterized by short stature, defined as a height less than 2 SD below normal, and no endocrine abnormalities." []
xref: MedGen:CN232354
xref: MeSH:D004392
xref: MIM:616255 "phenotype"
[Term]
id: DI-04509
name: Fibrosis of extraocular muscles, congenital, 3B
def: "A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Congenital fibrosis of extraocular muscles type 3 presents as a non-progressive, autosomal dominant disorder with variable expression. Patients may be bilaterally or unilaterally affected, and their oculo-motility defects range from complete ophthalmoplegia (with the eyes fixed in a hypo- and exotropic position), to mild asymptomatic restrictions of ocular movement. Ptosis, refractive error, amblyopia, and compensatory head positions are associated with the more severe forms of the disorder. In some cases, the ocular phenotype is accompanied by additional features including developmental delay, corpus callosum agenesis, basal ganglia dysmorphism, facial weakness, polyneuropathy." []
xref: MedGen:C2751105
xref: MeSH:D005355
xref: MeSH:D009886
xref: MIM:135700 "phenotype"
[Term]
id: DI-04510
name: Epilepsy, progressive myoclonic 9
def: "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM9 is an autosomal recessive form characterized by myoclonus, tonic-clonic seizures, ataxia, and delayed psychomotor development." []
xref: MedGen:CN232697
xref: MeSH:D020191
xref: MIM:616540 "phenotype"
[Term]
id: DI-04511
name: Intellectual developmental disorder, X-linked 12
def: "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. XLID12 patients manifest variable degrees of intellectual disability. Commonly observed features included speech delay, elevated BMI, short stature, seizure disorders, gait disturbance, and tremors." []
synonym: "MRX12" [UniProt]
synonym: "MRX35" [UniProt]
xref: MedGen:CN232398
xref: MeSH:D038901
xref: MIM:300957 "phenotype"
[Term]
id: DI-04512
name: Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type
def: "A disorder characterized by mild to severe intellectual disability, hypotonia, movement disorders, behavior problems, corpus callosum hypoplasia, and epilepsy. Additionally, patients manifest variable non-neurologic features such as joint hyperlaxity, skin pigmentary abnormalities, cleft lip and/or palate, hearing and visual impairment, and precocious puberty." []
synonym: "MRX102" [UniProt]
xref: MedGen:CN232401
xref: MeSH:D038901
xref: MIM:300958 "phenotype"
[Term]
id: DI-04513
name: Intellectual developmental disorder, autosomal dominant 40
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:CN233017
xref: MeSH:D008607
xref: MIM:616579 "phenotype"
[Term]
id: DI-04514
name: Cerebro-oculo-facio-skeletal syndrome 3
def: "A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome." []
xref: MedGen:C1851443
xref: MeSH:D001176
xref: MeSH:D002386
xref: MeSH:D005124
xref: MeSH:D008831
xref: MIM:616570 "phenotype"
[Term]
id: DI-04516
name: Spondylocostal dysostosis 6, autosomal recessive
def: "A form of spondylocostal dysostosis, a condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life." []
xref: MedGen:CN232941
xref: MeSH:D004413
xref: MIM:616566 "phenotype"
[Term]
id: DI-04517
name: Noonan syndrome 10
def: "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS10 inheritance is autosomal dominant." []
xref: MedGen:CN232946
xref: MeSH:D009634
xref: MIM:616564 "phenotype"
[Term]
id: DI-04518
name: Noonan syndrome 9
def: "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells." []
xref: MedGen:CN232945
xref: MeSH:D009634
xref: MIM:616559 "phenotype"
[Term]
id: DI-04519
name: Retinitis pigmentosa 73
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:CN232556
xref: MeSH:D012174
xref: MIM:616544 "phenotype"
[Term]
id: DI-04520
name: Retinitis pigmentosa 74
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:CN232915
xref: MeSH:D012174
xref: MIM:616562 "phenotype"
[Term]
id: DI-04521
name: Dyskeratosis congenita, autosomal dominant, 6
def: "A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy." []
xref: MedGen:CN232698
xref: MeSH:D019871
xref: MIM:616553 "phenotype"
[Term]
id: DI-04522
name: Dyskeratosis congenita, autosomal recessive, 7
def: "A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy." []
xref: MedGen:CN232699
xref: MeSH:D019871
xref: MIM:616553 "phenotype"
[Term]
id: DI-04523
name: Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism
def: "A form of Klippel-Feil syndrome, a skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. KFS4 features additionally include myopathy, mild short stature, microcephaly, and distinctive facies." []
xref: MedGen:CN232561
xref: MeSH:D007714
xref: MIM:616549 "phenotype"
[Term]
id: DI-04524
name: Short-rib thoracic dysplasia 14 with polydactyly
def: "A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome." []
xref: MedGen:CN232557
xref: MeSH:D012779
xref: MIM:616546 "phenotype"
[Term]
id: DI-04525
name: Short stature, microcephaly, and endocrine dysfunction
def: "A disease characterized by short stature and microcephaly apparent at birth, progressive postnatal growth failure, and endocrine dysfunction. In affected adults endocrine features include hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus. Variable features observed in some patients are progressive ataxia, and lymphopenia or borderline leukopenia." []
xref: MedGen:CN232399
xref: MeSH:D003920
xref: MeSH:D004392
xref: MeSH:D006044
xref: MeSH:D007006
xref: MeSH:D008831
xref: MIM:616541 "phenotype"
[Term]
id: DI-04526
name: Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay
def: "An autosomal recessive mitochondrial disorder with multisystemic and highly variable manifestations. Affected individuals suffer from a peripheral neuropathy, with distal muscle weakness and atrophy, and distal sensory impairment. Additional variable features include early- onset hypotonia and global developmental delay, poor or absent motor skills, exercise intolerance, poor growth, cerebellar signs, spasticity, and seizures. Biochemical analysis may show deficiencies in mitochondrial respiratory complex. Lactic acidosis is frequently observed." []
synonym: "Combined oxidative phosphorylation deficiency 26" [UniProt]
synonym: "COXPD26" [UniProt]
xref: MedGen:CN232403
xref: MeSH:D028361
xref: MIM:616539 "phenotype"
[Term]
id: DI-04527
name: MEND syndrome
def: "An X-linked recessive disorder associated with a defect in sterol biosynthesis. Disease manifestations and severity are highly variable. Clinical features include intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities." []
synonym: "Male EBP disorder with neurological defects" [UniProt]
xref: MedGen:CN232914
xref: MeSH:D043202
xref: MIM:300960 "phenotype"
[Term]
id: DI-04528
name: Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities
def: "A severe autosomal recessive disorder characterized by global developmental delay with impaired intellectual development and poor or absent speech, axial hypotonia, and peripheral spasticity and hyperreflexia. Brain imaging shows hypomyelination with decreased white matter volume, cerebral and cerebellar atrophy, and thin corpus callosum. Polymicrogyria may be observed in rare cases. Some patients have a primary immunodeficiency or gastrointestinal disturbances similar to inflammatory bowel disease." []
synonym: "PMGYCHA" [UniProt]
synonym: "Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis" [UniProt]
xref: MedGen:CN232389
xref: MeSH:D054220
xref: MIM:616531 "phenotype"
[Term]
id: DI-04529
name: Encephalopathy, acute, infection-induced, 7, herpes-specific
def: "A rare complication of human herpesvirus 1 (HHV-1) infection, occurring in only a small minority of HHV-1 infected individuals. It is characterized by hemorrhagic necrosis of parts of the temporal and frontal lobes. Onset is over several days and involves fever, headache, seizures, stupor, and often coma, frequently with a fatal outcome." []
synonym: "Encephalopathy, acute, infection-induced, 7" [UniProt]
synonym: "Herpes simplex encephalitis 7" [UniProt]
synonym: "HSE7" [UniProt]
synonym: "Infection-induced acute encephalopathy 7" [UniProt]
xref: MedGen:C4225294
xref: MeSH:D020803
xref: MIM:616532 "phenotype"
[Term]
id: DI-04530
name: Thyroid cancer, non-medullary, 4
def: "A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms." []
synonym: "Thyroid cancer, nonmedullary, 4" [UniProt]
xref: MedGen:CN232391
xref: MeSH:D013964
xref: MIM:616534 "phenotype"
[Term]
id: DI-04531
name: Thyroid cancer, non-medullary, 5
def: "A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms." []
synonym: "Thyroid cancer, nonmedullary, 5" [UniProt]
xref: MedGen:CN232392
xref: MeSH:D013964
xref: MIM:616535 "phenotype"
[Term]
id: DI-04532
name: Thyroid cancer, non-medullary, 2
def: "A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms." []
xref: MedGen:C0206682
xref: MeSH:D013964
xref: MIM:188470 "phenotype"
[Term]
id: DI-04533
name: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A9
def: "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease." []
synonym: "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9" [UniProt]
synonym: "Walker-Warburg syndrome or muscle-eye brain disease, DAG1-related" [UniProt]
xref: MedGen:CN232402
xref: MeSH:D058494
xref: MIM:616538 "phenotype"
[Term]
id: DI-04534
name: Epithelial recurrent erosion dystrophy
def: "A corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood, with occasional impairment of vision. Most patients have attacks of redness, photophobia, epiphora, and ocular pain. Exposure to sunlight or draught, dust and smoke and lack of sleep can precipitate attacks." []
synonym: "Corneal erosions, recurring hereditary" [UniProt]
synonym: "RCES" [UniProt]
synonym: "Recurrent corneal erosion syndrome" [UniProt]
xref: MedGen:C1852551
xref: MeSH:D003317
xref: MIM:122400 "phenotype"
[Term]
id: DI-04535
name: Congenital anomalies of kidney and urinary tract 2
def: "A disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children." []
synonym: "Hydronephrosis due to PUJO" [UniProt]
synonym: "MCRD" [UniProt]
synonym: "Multicystic renal dysplasia, bilateral" [UniProt]
synonym: "Pelviureteric junction obstruction" [UniProt]
synonym: "PUJO" [UniProt]
synonym: "UPJO" [UniProt]
synonym: "Ureteropelvic junction obstruction" [UniProt]
xref: MedGen:C1840451
xref: MeSH:D014564
xref: MIM:143400 "phenotype"
[Term]
id: DI-04536
name: Autism, X-linked 4
def: "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability." []
synonym: "Chromosome Xp22 deletion syndrome" [UniProt]
xref: MedGen:C0795888
xref: MeSH:D001321
xref: MIM:300830 "phenotype"
[Term]
id: DI-04537
name: Cavitary optic disc anomalies
def: "An ocular disease characterized by a profound excavation of the optic nerve. Clinical phenotype is variable and includes congenitally excavated optic nerves as well as other features of optic pit, optic nerve coloboma, and morning glory disk anomaly. Patients with CODA have a strong predilection for retinal detachment and/or separation of the retinal layers (retinoschisis) that lead to profound central vision loss." []
xref: MedGen:C1969063
xref: MeSH:D015785
xref: MIM:611543 "phenotype"
[Term]
id: DI-04538
name: Neuropathy, hereditary motor and sensory, 6B, with optic atrophy
def: "An autosomal recessive neurologic disorder characterized by early- onset optic atrophy, progressive visual loss, and peripheral sensorimotor neuropathy manifesting as axonal Charcot-Marie-Tooth disease, with variable age at onset and severity. Charcot-Marie-Tooth disease is a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. It is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies and primary peripheral axonal neuropathies. Peripheral axonal neuropathies are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, and normal or slightly reduced nerve conduction velocities." []
synonym: "Charcot-Marie-Tooth disease 6B" [UniProt]
synonym: "CMT6B" [UniProt]
synonym: "Hereditary motor and sensory neuropathy type VIB" [UniProt]
synonym: "HMSN VIB" [UniProt]
synonym: "Neuropathy, hereditary motor and sensory, type VIB" [UniProt]
xref: MedGen:CN232097
xref: MeSH:D002607
xref: MeSH:D015418
xref: MIM:616505 "phenotype"
[Term]
id: DI-04539
name: Paget disease of bone 3
def: "A disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone." []
synonym: "Osteitis Deformans" [UniProt]
xref: MedGen:CN032130
xref: MeSH:D010001
xref: MIM:167250 "phenotype"
[Term]
id: DI-04540
name: Palmoplantar keratoderma and congenital alopecia 1
def: "A rare autosomal dominant disorder characterized by severe hyperkeratosis of the palms and soles, and congenital hypotrichosis or alopecia. Dystrophic nail changes occur in some patients." []
synonym: "Keratoderma-hypotrichosis-leukonychia totalis syndrome" [UniProt]
synonym: "PPKCA, Stevanovic type" [UniProt]
xref: MedGen:C1863093
xref: MedGen:C3151468
xref: MeSH:D000505
xref: MeSH:D007645
xref: MIM:104100 "phenotype"
[Term]
id: DI-04541
name: Lateral meningocele syndrome
def: "A very rare skeletal disorder with facial anomalies, hypotonia and neurologic dysfunction due to meningocele, a protrusion of the meninges, unaccompanied by neural tissue, through a bony defect in the skull or vertebral column. LMNS facial features include hypertelorism and telecanthus, high arched eyebrows, ptosis, mid-facial hypoplasia, micrognathia, high and narrow palate, low-set ears and a hypotonic appearance. Additional variable features are connective tissue abnormalities, aortic dilation, a high-pitched nasal voice, wormian bones and osteolysis." []
synonym: "Lehman syndrome" [UniProt]
synonym: "LMS" [UniProt]
xref: MedGen:C1851710
xref: MeSH:D008588
xref: MIM:130720 "phenotype"
[Term]
id: DI-04542
name: Ablepharon-macrostomia syndrome
def: "A congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth." []
xref: MedGen:C1860224
xref: MeSH:D005124
xref: MeSH:D008265
xref: MIM:200110 "phenotype"
[Term]
id: DI-04543
name: Barber-Say syndrome
def: "A rare ectodermal dysplasia characterized by ectropion, macrostomia, ear abnormalities, broad nasal bridge, bulbous nose, redundant skin, hypertrichosis, dental abnormalities, and variable other features." []
synonym: "BSS" [UniProt]
synonym: "Hypertrichosis, atrophic skin, ectropion, and macrostomia" [UniProt]
xref: MedGen:C1319466
xref: MeSH:D005141
xref: MeSH:D006983
xref: MeSH:D008265
xref: MeSH:D012868
xref: MIM:209885 "phenotype"
[Term]
id: DI-04544
name: Beukes hip dysplasia
def: "A severe progressive degenerative osteoarthritis of the hip joint with underlying dysplasia confined to that region. Affected individuals are of normal stature and have no associated health problems. Inheritance is autosomal dominant." []
synonym: "Beukes familial hip dysplasia" [UniProt]
synonym: "BFHD" [UniProt]
synonym: "Hip dysplasia, Beukes type" [UniProt]
synonym: "Premature degenerative osteoarthropathy" [UniProt]
xref: MedGen:C1840572
xref: MeSH:D006618
xref: MeSH:D010009
xref: MIM:142669 "phenotype"
[Term]
id: DI-04545
name: Neuronopathy, distal hereditary motor, autosomal recessive 2
def: "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMNR2 is characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs in the first decade." []
synonym: "Distal spinal muscular atrophy, autosomal recessive, 2" [UniProt]
synonym: "DSMA2" [UniProt]
synonym: "Hereditary motor neuropathy, Jerash type" [UniProt]
synonym: "HMNJ" [UniProt]
synonym: "Motor neuropathy, distal, Jerash type" [UniProt]
synonym: "Neuronopathy, distal hereditary motor, Jerash type" [UniProt]
synonym: "Neuropathy, distal hereditary motor, Jerash type" [UniProt]
synonym: "Spinal muscular atrophy, Jerash type" [UniProt]
xref: MedGen:C1854023
xref: MeSH:D009134
xref: MIM:605726 "phenotype"
[Term]
id: DI-04546
name: Spondyloocular syndrome
def: "A syndrome characterized by cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, normal height with disproportional short trunk, osteoporosis, immobile spine with thoracic kyphosis and reduced lumbal lordosis." []
xref: MedGen:C1853925
xref: MeSH:D002386
xref: MeSH:D010009
xref: MeSH:D015785
xref: MeSH:D019465
xref: MIM:605822 "phenotype"
[Term]
id: DI-04548
name: Corneal dystrophy, Fuchs endothelial, 3
def: "A late-onset form of Fuchs endothelial corneal dystrophy, a disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition." []
synonym: "Fuchs endothelial corneal dystrophy, late-onset" [UniProt]
xref: MedGen:C2750451
xref: MeSH:D005642
xref: MIM:613267 "phenotype"
[Term]
id: DI-04549
name: Deafness, autosomal recessive, 66
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:C1857750
xref: MeSH:D006319
xref: MIM:610212 "phenotype"
[Term]
id: DI-04550
name: Infantile liver failure syndrome 2
def: "A form of infantile liver failure syndrome, a life-threatening disorder of hepatic function that manifests with acute liver failure in the first few months of life. Clinical features include anemia, renal tubulopathy, developmental delay, seizures, failure to thrive, and liver steatosis and fibrosis." []
xref: MedGen:CN232144
xref: MeSH:D017093
xref: MIM:616483 "phenotype"
[Term]
id: DI-04551
name: Immunodeficiency 41 with lymphoproliferation and autoimmunity
def: "A disorder of immune dysregulation characterized by recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features, such as autoimmune enteropathy and eczematous skin lesions." []
synonym: "CD25 deficiency" [UniProt]
synonym: "IL2RA deficiency" [UniProt]
synonym: "Interleukin 2 receptor alpha deficiency" [UniProt]
xref: MedGen:C1853392
xref: MeSH:D007153
xref: MIM:606367 "phenotype"
[Term]
id: DI-04552
name: Spondyloepiphyseal dysplasia, Stanescu type
def: "An autosomal dominant spondyloepiphyseal dysplasia characterized by glycoproteins accumulation in chondrocytes. Clinical features include progressive joint contractures, premature degenerative joint disease particularly in the knee, hip and finger joints, and osseous distention of the metaphyseal ends of the phalanges causing swolling of interphalangeal joints of the hands. Radiological features include generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands." []
synonym: "SED, Stanescu type" [UniProt]
xref: MedGen:CN233075
xref: MeSH:D010009
xref: MIM:616583 "phenotype"
[Term]
id: DI-04553
name: Immunodeficiency, common variable, 12, with autoimmunity
def: "A primary immunodeficiency characterized by hypogammaglobulinemia and recurrent bacterial infections. About half of patients develop autoimmune features, including cytopenia, as well as generalized inflammation and lymphoproliferation manifest as lymphadenopathy or hepatosplenomegaly." []
synonym: "NFKB1 deficiency" [UniProt]
xref: MedGen:CN233034
xref: MeSH:D017074
xref: MIM:616576 "phenotype"
[Term]
id: DI-04554
name: Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities
def: "An autosomal recessive disorder characterized by intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss." []
synonym: "EHLMRS" [UniProt]
xref: MedGen:CN233035
xref: MeSH:D004827
xref: MeSH:D006319
xref: MeSH:D008607
xref: MIM:616577 "phenotype"
[Term]
id: DI-04555
name: Au-Kline syndrome
def: "A disorder characterized by intellectual disability, facial dysmorphism, cardiac defects, and connective tissue and skeletal abnormalities. Dysmorphic features include long palpebral fissures, ptosis, a broad prominent nasal bridge, hypoplastic alae nasi, an open downturned mouth, ears with underdeveloped and thick helices, high palate, and a unique tongue with a prominent median crease. Hypotonia, hyporeflexia, and high pain tolerance are additional features." []
synonym: "Au-Kline-Okamoto syndrome" [UniProt]
synonym: "Hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation" [UniProt]
synonym: "Okamoto syndrome" [UniProt]
xref: MedGen:CN233135
xref: MeSH:D000015
xref: MIM:616580 "phenotype"
[Term]
id: DI-04556
name: Spastic paraplegia 9A, autosomal dominant
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG9A patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency." []
synonym: "Cataracts with motor neuronopathy, short stature, and skeletal abnormalities" [UniProt]
synonym: "Spastic paraparesis with amyopathy, cataracts, and gastroesophageal reflux" [UniProt]
xref: MedGen:C1832669
xref: MeSH:D015419
xref: MIM:601162 "phenotype"
[Term]
id: DI-04557
name: Spastic paraplegia 9B, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG9B is a complex form characterized by delayed psychomotor development, intellectual disability, and severe motor impairment. Dysmorphic facial features, tremor, and urinary incontinence are variably observed in SPG9B patients." []
xref: MedGen:CN233140
xref: MeSH:D015419
xref: MIM:616586 "phenotype"
[Term]
id: DI-04558
name: Cutis laxa, autosomal dominant, 3
def: "A form of cutis laxa, a connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. ADCL3 patients manifest thin skin with visible veins and wrinkles, cataract or corneal clouding, moderate intellectual disability, muscular hypotonia with brisk muscle reflexes, clenched fingers, and pre- and postnatal growth retardation." []
xref: MedGen:CN233153
xref: MeSH:D003483
xref: MIM:616603 "phenotype"
[Term]
id: DI-04559
name: Adams-Oliver syndrome 6
def: "A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins." []
xref: MedGen:CN233136
xref: MeSH:D004476
xref: MeSH:D017880
xref: MIM:616589 "phenotype"
[Term]
id: DI-04560
name: Kosaki overgrowth syndrome
def: "A syndrome characterized by somatic overgrowth, distinctive facial features, hyperelastic and fragile skin, and progressive neurologic deterioration with white matter lesions on brain imaging." []
synonym: "Skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration" [UniProt]
xref: MedGen:CN233141
xref: MeSH:D006130
xref: MIM:616592 "phenotype"
[Term]
id: DI-04561
name: Craniosynostosis 6
def: "A form of craniosynostosis, a primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability." []
xref: MedGen:CN233152
xref: MeSH:D003398
xref: MIM:616602 "phenotype"
[Term]
id: DI-04562
name: Immunodeficiency 42
def: "An autosomal recessive primary immunodeficiency characterized by increased susceptibility to concomitant candidiasis and mycobacteriosis. Candidiasis is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida. Mycobacteriosis is characterized by infections caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non- tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. IMD42 patients vaccinated with BCG are particularly at risk for developing disseminated mycobacterial infections." []
xref: MedGen:CN233197
xref: MeSH:D007153
xref: MIM:616622 "phenotype"
[Term]
id: DI-04563
name: Heimler syndrome 1
def: "A form of Heimler syndrome, a very mild peroxisome biogenesis disorder characterized by sensorineural hearing loss, amelogenesis imperfecta resulting in enamel hyoplasia of the secondary dentition, nail defects, and occasional or late-onset retinal pigmentation abnormalities." []
synonym: "Deafness enamel hypoplasia nail defects" [UniProt]
synonym: "Hearing loss, sensorineural, with enamel hypoplasia and nail defects" [UniProt]
synonym: "PBD1C" [UniProt]
synonym: "Peroxisome biogenesis disorder 1C" [UniProt]
synonym: "Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities" [UniProt]
xref: MedGen:C1856186
xref: MeSH:D000567
xref: MeSH:D006319
xref: MeSH:D009260
xref: MIM:234580 "phenotype"
[Term]
id: DI-04564
name: Heimler syndrome 2
def: "A form of Heimler syndrome, a very mild peroxisome biogenesis disorder characterized by sensorineural hearing loss, amelogenesis imperfecta resulting in enamel hyoplasia of the secondary dentition, nail defects, and occasional or late-onset retinal pigmentation abnormalities." []
synonym: "PBD4C" [UniProt]
synonym: "Peroxisome biogenesis disorder 4C" [UniProt]
xref: MedGen:CN233185
xref: MeSH:D000567
xref: MeSH:D006319
xref: MeSH:D009260
xref: MIM:616617 "phenotype"
[Term]
id: DI-04565
name: Amyotrophic lateral sclerosis 5, juvenile
def: "A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS5 is an autosomal recessive, juvenile form characterized by onset of upper and lower motor neuron signs before age 25." []
xref: MedGen:C1865864
xref: MeSH:D000690
xref: MIM:602099 "phenotype"
[Term]
id: DI-04566
name: Premature aging syndrome, Penttinen type
def: "A syndrome characterized by a prematurely aged appearance with lipoatrophy, epidermal and dermal atrophy along with hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acro-osteolysis." []
synonym: "Penttinen syndrome" [UniProt]
synonym: "Penttinen-Aula syndrome" [UniProt]
xref: MedGen:C1866182
xref: MeSH:D011371
xref: MeSH:D030981
xref: MIM:601812 "phenotype"
[Term]
id: DI-04567
name: Bulimia nervosa 2
def: "A psychiatric disorder characterized by eating an unusually large amount of food in a short period of time, followed by inappropriate acts (purging) to avert weight gain. Compensatory behavior includes self-induced vomiting, laxative abuse, and excessive exercise." []
xref: MedGen:C1853220
xref: MeSH:D052018
xref: MIM:607499 "phenotype"
[Term]
id: DI-04568
name: Anorexia nervosa
def: "An eating disorder characterized by the lack or loss of appetite, excess fear of becoming overweight, body image disturbance, significant weight loss, refusal to maintain minimal normal weight, and amenorrhea." []
xref: MedGen:C1853221
xref: MeSH:D000856
xref: MIM:606788 "phenotype"
[Term]
id: DI-04569
name: Porokeratosis 9, multiple types
def: "A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported." []
xref: MedGen:CN233216
xref: MeSH:D017499
xref: MIM:616631 "phenotype"
[Term]
id: DI-04570
name: Porokeratosis 1, multiple types
def: "A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported." []
synonym: "Porokeratosis 1, Mibelli type" [UniProt]
synonym: "Porokeratosis of Mibelli" [UniProt]
xref: MedGen:C0949506
xref: MeSH:D017499
xref: MIM:175800 "phenotype"
[Term]
id: DI-04571
name: Porokeratosis 7, multiple types
def: "A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported." []
synonym: "Porokeratosis 7, disseminated superficial actinic type" [UniProt]
xref: MedGen:C0265970
xref: MedGen:C3553549
xref: MeSH:D017499
xref: MIM:614714 "phenotype"
[Term]
id: DI-04572
name: Seizures, cortical blindness, and microcephaly syndrome
def: "A severe autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development, short stature, and cortical blindness." []
xref: MedGen:CN233219
xref: MeSH:D008831
xref: MeSH:D012640
xref: MeSH:D019575
xref: MIM:616632 "phenotype"
[Term]
id: DI-04573
name: Ritscher-Schinzel syndrome 2
def: "A form of Ritscher-Schinzel syndrome, a developmental malformation syndrome characterized by cerebellar brain malformations, congenital heart defects, and craniofacial abnormalities. RTSC2 is an X-linked recessive form characterized by intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities." []
xref: MedGen:CN233320
xref: MeSH:D003616
xref: MeSH:D006344
xref: MeSH:D019465
xref: MIM:300963 "phenotype"
[Term]
id: DI-04574
name: Charcot-Marie-Tooth disease, axonal, 2W
def: "An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2W patients manifest a peripheral neuropathy mainly affecting the lower limbs and resulting in gait difficulties and distal sensory impairment. Most patients also have upper limb involvement." []
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2W" [UniProt]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2W" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy, type 2W" [UniProt]
xref: MedGen:CN233205
xref: MeSH:D002607
xref: MIM:616625 "phenotype"
[Term]
id: DI-04575
name: Senior-Loken syndrome 9
def: "A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life." []
xref: MedGen:CN229792
xref: MeSH:D052177
xref: MeSH:D057130
xref: MIM:616629 "phenotype"
[Term]
id: DI-04576
name: Smith-Kingsmore syndrome
def: "An autosomal dominant syndrome characterized by intellectual disability, macrocephaly, seizures, umbilical hernia, and facial dysmorphic features." []
synonym: "Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome" [UniProt]
synonym: "MINDS syndrome" [UniProt]
xref: MedGen:CN233222
xref: MeSH:D006554
xref: MeSH:D008607
xref: MeSH:D012640
xref: MeSH:D019465
xref: MIM:616638 "phenotype"
[Term]
id: DI-04577
name: Developmental and epileptic encephalopathy 34
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE34 is characterized by onset of refractory migrating focal seizures in infancy. Affected children show developmental regression and are severely impaired globally." []
synonym: "EIEE34" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 34" [UniProt]
xref: MedGen:CN233362
xref: MeSH:D013036
xref: MIM:616645 "phenotype"
[Term]
id: DI-04578
name: Developmental and epileptic encephalopathy 35
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE35 is characterized by onset of seizures in the first months of life associated with essentially no normal development. Many patients die in early childhood." []
synonym: "EIEE35" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 35" [UniProt]
xref: MedGen:CN233260
xref: MeSH:D013036
xref: MIM:616647 "phenotype"
[Term]
id: DI-04579
name: Joubert syndrome 24
def: "A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly." []
xref: MedGen:CN233319
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:616654 "phenotype"
[Term]
id: DI-04580
name: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
def: "A neurodevelopmental disorder characterized by thin corpus callosum, severe progressive microcephaly, severe intellectual disability, seizures, spasticity, and global developmental delay. Most patients are unable to achieve independent walking or speech." []
xref: MedGen:CN233337
xref: MeSH:D008607
xref: MeSH:D008831
xref: MeSH:D011782
xref: MeSH:D012640
xref: MIM:616657 "phenotype"
[Term]
id: DI-04581
name: Epilepsy, progressive myoclonic 10
def: "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM10 is an autosomal recessive form characterized by progressive dysarthria, myoclonus, ataxia, cognitive decline, psychosis, dementia and spasticity, with onset in childhood. There is variability between patients." []
synonym: "Early-onset Lafora body disease" [UniProt]
xref: MedGen:CN233224
xref: MeSH:D020191
xref: MIM:616640 "phenotype"
[Term]
id: DI-04582
name: Intellectual developmental disorder, X-linked, syndromic, Shashi type
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS11 patients manifest moderate intellectual disability and craniofacial dysmorphism." []
synonym: "MRXS11" [UniProt]
synonym: "SMRXS" [UniProt]
xref: MedGen:C1846145
xref: MeSH:D038901
xref: MIM:300238 "phenotype"
[Term]
id: DI-04583
name: Mitral valve prolapse 2
def: "A form of mitral valve prolapse, a valvular heart disease characterized by abnormally elongated and thickened mitral valve leaflets, that typically show myxomatous degeneration with increased leaflet compliance. It is associated with mitral regurgitation. Myxomatous mitral valves have an abnormal layered architecture characterized by loose collagen in fibrosa, expanded spongiosa strongly positive for proteoglycans, and disrupted elastin in atrialis. In classic mitral valve prolapse, leaflets are at least 5 mm thick, whereas in the non-classic form, they are less than 5 mm thick. Severe classic mitral valve prolapse is strongly associated with arrhythmias, endocarditis, heart failure, and need for valve surgery. MVP2 inheritance is autosomal dominant." []
synonym: "Mitral valve prolapse, myxomatous 2" [UniProt]
synonym: "MMVP2" [UniProt]
synonym: "Myxomatous mitral valve prolapse 2" [UniProt]
xref: MedGen:C1843003
xref: MeSH:D008945
xref: MIM:607829 "phenotype"
[Term]
id: DI-04584
name: Fundus albipunctatus
def: "A form of fleck retina disease characterized by discrete uniform white dots over the entire fundus with greatest density in the mid-periphery and no macular involvement. Night blindness occurs. Inheritance can be autosomal dominant or autosomal recessive." []
synonym: "FA" [UniProt]
xref: MedGen:C0311338
xref: MeSH:D012164
xref: MIM:136880 "phenotype"
[Term]
id: DI-04585
name: Immunodeficiency 44
def: "An autosomal recessive disorder characterized by increased susceptibility to viral infection, resulting in some patients in encephalopathy and infection-associated neurologic decompensation." []
xref: MedGen:CN233344
xref: MeSH:D007153
xref: MIM:616636 "phenotype"
[Term]
id: DI-04586
name: Immunodeficiency 45
def: "An autosomal recessive disorder characterized by increased susceptibility to viral infection due to impaired antiviral immunity, resulting in infection-associated encephalopathy. Affected individuals are at risk for developing fatal encephalitis after routine measles/mumps/rubella (MMR) vaccination." []
xref: MedGen:CN233357
xref: MeSH:D007153
xref: MIM:616669 "phenotype"
[Term]
id: DI-04587
name: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type
def: "An autosomal recessive skeletal disorder characterized by spondyloepimetaphyseal dysplasia, short stature, facial dysmorphism, short fourth metatarsals, and intellectual disability." []
xref: MedGen:CN234661
xref: MeSH:D010009
xref: MIM:616723 "phenotype"
[Term]
id: DI-04588
name: Charcot-Marie-Tooth disease, axonal, 2X
def: "An autosomal recessive, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2X patients manifest a slowly progressive, peripheral neuropathy affecting the lower limbs and resulting in gait difficulties and distal sensory impairment. Some patients also have upper limb involvement." []
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2X" [UniProt]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2X" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy, type 2X" [UniProt]
xref: MedGen:CN233205
xref: MeSH:D002607
xref: MIM:616668 "phenotype"
[Term]
id: DI-04589
name: Charcot-Marie-Tooth disease, axonal, 2Y
def: "An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy." []
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Y" [UniProt]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2Y" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy, type 2Y" [UniProt]
xref: MedGen:CN234389
xref: MeSH:D002607
xref: MIM:616687 "phenotype"
[Term]
id: DI-04590
name: Charcot-Marie-Tooth disease, axonal, 2Z
def: "An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy." []
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Z" [UniProt]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2Z" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy, type 2Z" [UniProt]
xref: MedGen:CN234390
xref: MeSH:D002607
xref: MIM:616688 "phenotype"
[Term]
id: DI-04591
name: Charcot-Marie-Tooth disease 4K
def: "An autosomal recessive, demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4K patients manifest upper and lower limbs involvement. Some affected individuals have nystagmus and late-onset cerebellar ataxia." []
synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4K" [UniProt]
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4K" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy, demyelinating, autosomal recessive, type 4K" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy, type 4K" [UniProt]
xref: MedGen:CN234388
xref: MeSH:D002607
xref: MIM:616684 "phenotype"
[Term]
id: DI-04592
name: Combined oxidative phosphorylation deficiency 27
def: "An autosomal recessive mitochondrial disorder characterized by multiple mitochondrial respiratory-chain-complex deficiencies causing neurological regression, progressive cognitive decline, complex movement disorder, epileptic encephalopathy, progressive spastic tetraparesis, and progressive impairment of vision and hearing." []
xref: MedGen:CN233359
xref: MeSH:D028361
xref: MIM:616672 "phenotype"
[Term]
id: DI-04593
name: Spastic paraplegia 75, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG75 is characterized by onset in early childhood and is associated with mild to moderate cognitive impairment." []
xref: MedGen:CN233361
xref: MeSH:D015419
xref: MIM:616680 "phenotype"
[Term]
id: DI-04594
name: Microcephaly 16, primary, autosomal recessive
def: "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small." []
xref: MedGen:CN233372
xref: MeSH:D008831
xref: MIM:616681 "phenotype"
[Term]
id: DI-04595
name: Seizures, scoliosis, and macrocephaly/microcephaly syndrome
def: "An autosomal recessive syndrome characterized by seizures, intellectual disability, hypotonia, scoliosis, macrocephaly, hypertelorism and renal dysfunction." []
synonym: "Seizures-scoliosis-macrocephaly syndrome" [UniProt]
xref: MedGen:CN234668
xref: MeSH:D000015
xref: MIM:616682 "phenotype"
[Term]
id: DI-04596
name: Epilepsy, idiopathic generalized 14
def: "An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures." []
xref: MedGen:CN234615
xref: MeSH:D004829
xref: MIM:616685 "phenotype"
[Term]
id: DI-04597
name: Dehydrated hereditary stomatocytosis 2
def: "An autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. Erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. Affected individuals typically manifest mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration. Their red cells exhibit a panel of various shape abnormalities such as elliptocytes, hemighosts, schizocytes, and very rare stomatocytic cells. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur." []
synonym: "Desiccytosis Gardos" [UniProt]
synonym: "Xerocytosis Gardos" [UniProt]
xref: MedGen:CN233380
xref: MeSH:D000745
xref: MIM:616689 "phenotype"
[Term]
id: DI-04598
name: Deafness, congenital, unilateral or asymmetric
def: "An autosomal dominant form of non-syndromic, sensorineural deafness characterized by inability to hear affecting one ear. Some patients suffers from asymmetric, bilateral hearing loss." []
xref: MedGen:CN234669
xref: MeSH:D006319
xref: MeSH:D046088
xref: MIM:616697 "phenotype"
[Term]
id: DI-04599
name: Deafness, autosomal recessive, 97
def: "A form of non-syndromic sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN234587
xref: MeSH:D006319
xref: MIM:616705 "phenotype"
[Term]
id: DI-04600
name: Deafness, autosomal dominant, 68
def: "A form of non-syndromic sensorineural hearing loss with postlingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN234588
xref: MeSH:D006319
xref: MIM:616707 "phenotype"
[Term]
id: DI-04601
name: Parkinson disease 22
def: "An autosomal dominant form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain." []
synonym: "Parkinson disease 22, autosomal dominant" [UniProt]
xref: MedGen:CN234663
xref: MeSH:D020734
xref: MIM:616710 "phenotype"
[Term]
id: DI-04602
name: Rhizomelic chondrodysplasia punctata 5
def: "A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe intellectual disability with spasticity." []
synonym: "Rhizomelic chondrodysplasia punctata, type 5" [UniProt]
xref: MedGen:CN234653
xref: MeSH:D018902
xref: MIM:616716 "phenotype"
[Term]
id: DI-04603
name: Spinocerebellar ataxia, autosomal recessive, 21
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR21 is characterized by cerebellar atrophy and ataxia with onset in early childhood. Patients also manifest recurrent episodes of liver failure, hepatic fibrosis and a peripheral neuropathy." []
synonym: "CALFAN" [UniProt]
synonym: "Cholestasis, low GGT, acute liver failure, and neurodegeneration syndrome" [UniProt]
synonym: "Spinocerebellar ataxia, autosomal recessive 21, with hepatopathy" [UniProt]
xref: MedGen:CN234681
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:616719 "phenotype"
[Term]
id: DI-04604
name: Myasthenic syndrome, congenital, 19
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort." []
xref: MedGen:CN234682
xref: MeSH:D020294
xref: MIM:616720 "phenotype"
[Term]
id: DI-04605
name: Congenital disorder of glycosylation 2N
def: "A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions." []
synonym: "CDG IIn" [UniProt]
synonym: "CDG-IIn" [UniProt]
synonym: "CDGIIn" [UniProt]
synonym: "Congenital disorder of glycosylation, type IIn" [UniProt]
xref: MedGen:CN234667
xref: MeSH:D018981
xref: MIM:616721 "phenotype"
[Term]
id: DI-04606
name: Tooth agenesis, selective, 7
def: "An autosomal dominant form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth)." []
synonym: "Selective tooth agenesis 7" [UniProt]
xref: MedGen:CN234662
xref: MeSH:D000848
xref: MIM:616724 "phenotype"
[Term]
id: DI-04607
name: Joubert syndrome 25
def: "A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS25 clinical manifestations appear to be confined to the neurologic system. JBTS25 inheritance is autosomal recessive." []
xref: MedGen:CN235076
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:616781 "phenotype"
[Term]
id: DI-04608
name: Overhydrated hereditary stomatocytosis
def: "An autosomal dominant disorder of red cell membrane permeability to monovalent cations, characterized by macrocytic hemolytic anemia of fluctuating severity, circulating erythrocytes with slit-like lucencies (stomata) evident on fixed, stained peripheral blood smears. OHST red cells exhibit cation leak, resulting in elevated cell sodium content with reduced potassium content. The disease is marked by splenomegaly or hepatosplenomegaly, cholelithiasis and a strong tendency for iron overload." []
synonym: "Hereditary, overhydrated, cation-leak stomatocytosis" [UniProt]
synonym: "OHS" [UniProt]
synonym: "Overhydrated cation leak stomatocytosis" [UniProt]
synonym: "Potassium sodium disorder of erythrocyte" [UniProt]
xref: MedGen:C1861455
xref: MeSH:D000745
xref: MIM:185000 "phenotype"
[Term]
id: DI-04609
name: Cryohydrocytosis
def: "An autosomal dominant disorder of red cell membrane permeability characterized by cold-induced changes in cell volume, resulting in cold-sensitive stomatocytosis, and increased erythrocyte osmotic fragility and autohemolysis at 4 degrees Celsius. Patients present with mild to moderate hemolytic anemia, splenomegaly, fatigue, and pseudohyperkalemia due to a potassium leak from the erythrocytes." []
synonym: "Stomatocytosis, cold-sensitive" [UniProt]
xref: MedGen:C1861453
xref: MeSH:D000745
xref: MIM:185020 "phenotype"
[Term]
id: DI-04610
name: Deafness, X-linked, 5, with peripheral neuropathy
def: "A form of hearing loss characterized by absent or severely abnormal auditory brainstem response, abnormal middle ear reflexes, abnormal speech discrimination, loss of outer hair cell function, and cochlear nerve hypoplasia. DFNX5 patients manifest auditory neuropathy with childhood onset, associated with distal sensory impairment affecting the peripheral nervous system." []
synonym: "Auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy" [UniProt]
synonym: "AUNX1" [UniProt]
xref: MedGen:C1845095
xref: MeSH:D006319
xref: MIM:300614 "phenotype"
[Term]
id: DI-04611
name: Stomatin-deficient cryohydrocytosis with neurologic defects
def: "A rare form of stomatocytosis characterized by episodic hemolytic anemia, cold-induced red cells cation leak, erratic hyperkalemia, neonatal hyperbilirubinemia, hepatosplenomegaly, cataracts, seizures, intellectual disability, and movement disorder." []
synonym: "GLUT1 deficiency syndrome with pseudohyperkalemia and hemolysis" [UniProt]
xref: MedGen:C1837206
xref: MeSH:D000745
xref: MIM:608885 "phenotype"
[Term]
id: DI-04613
name: Oocyte/zygote/embryo maturation arrest 2
def: "A primary infertility disorder caused by defective oocyte maturation. Oocytes are arrested at metaphase I, and have an abnormal or no detectable spindle on polarization microscopy. OOMD2 inheritance can be autosomal dominant or autosomal recessive." []
synonym: "Oocyte maturation defect 2" [UniProt]
synonym: "OOMD2" [UniProt]
xref: MedGen:CN235180
xref: MeSH:D007247
xref: MIM:616780 "phenotype"
[Term]
id: DI-04614
name: Hypotonia, infantile, with psychomotor retardation
def: "An autosomal recessive disorder characterized by congenital axial hypotonia, weakness of the abducens nerve, psychomotor developmental delay with brain ventriculomegaly, variable thinning of corpus callosum and cardiac septal defects." []
xref: MedGen:CN235307
xref: MeSH:D009123
xref: MeSH:D011596
xref: MIM:616816 "phenotype"
[Term]
id: DI-04615
name: Joubert syndrome 26
def: "A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS26 inheritance is autosomal recessive." []
xref: MedGen:CN235096
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:616784 "phenotype"
[Term]
id: DI-04616
name: Non-syndromic orofacial cleft 15
def: "A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. OFC15 inheritance is autosomal dominant." []
xref: MedGen:CN235104
xref: MeSH:D002971
xref: MIM:616788 "phenotype"
[Term]
id: DI-04617
name: Intellectual developmental disorder, X-linked, syndromic 33
def: "A syndrome characterized by intellectual deficit, delayed psychomotor development, delayed speech and language, and characteristic facial features." []
xref: MedGen:CN234868
xref: MeSH:D038901
xref: MIM:300966 "phenotype"
[Term]
id: DI-04618
name: Intellectual developmental disorder, X-linked, syndromic 34
def: "A syndrome characterized by intellectual deficit, delayed psychomotor development, poor speech, and dysmorphic features." []
synonym: "MRXSML" [UniProt]
xref: MedGen:CN235309
xref: MeSH:D038901
xref: MIM:300967 "phenotype"
[Term]
id: DI-04619
name: Leukodystrophy, hypomyelinating, 12
def: "An autosomal recessive neurologic disorder characterized by developmental delay, spasticity, truncal hypotonia, acquired microcephaly, intellectual disability with variable seizure disorder, accompanied by thin corpus callosum, paucity of white matter and delayed myelination." []
xref: MedGen:CN234869
xref: MeSH:D020279
xref: MIM:616683 "phenotype"
[Term]
id: DI-04620
name: DeSanto-Shinawi syndrome
def: "An autosomal dominant syndrome characterized by developmental delay, hypotonia, behavioral problems, eye abnormalities, constipation, feeding difficulties, seizures and sleep problems. Patients exhibit dysmorphic features, including broad/prominent forehead, synophrys and/or bushy eyebrows, depressed nasal bridge and bulbous nasal tip. Additional variable features are posteriorly rotated ears, hirsutism, deep-set eyes, thin upper lip, inverted nipples, hearing loss and branchial cleft anomalies." []
xref: MedGen:CN234870
xref: MeSH:D000015
xref: MIM:616708 "phenotype"
[Term]
id: DI-04621
name: Ciliary dyskinesia, primary, 33
def: "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD33 inheritance is autosomal recessive." []
synonym: "Ciliary dyskinesia, primary, 33, without situs inversus" [UniProt]
xref: MedGen:CN234871
xref: MeSH:D007619
xref: MIM:616726 "phenotype"
[Term]
id: DI-04622
name: Cleft palate, psychomotor retardation, and distinctive facial features
def: "A syndrome characterized by cleft palate, developmental delay, psychomotor retardation, and facial dysmorphic features including a prominent forehead, slightly arched eyebrows, elongated palpebral fissures, a wide nasal bridge, thin lips, and widely spaced teeth. Cleft palate is a congenital fissure of the soft and/or hard palate, due to faulty fusion." []
xref: MedGen:CN234733
xref: MeSH:D002972
xref: MIM:616728 "phenotype"
[Term]
id: DI-04623
name: Nephrotic syndrome 11
def: "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS11 is an autosomal recessive, steroid-resistant and progressive form with onset in the first decade of life." []
xref: MedGen:CN234872
xref: MeSH:D009404
xref: MIM:616730 "phenotype"
[Term]
id: DI-04624
name: Optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures
def: "An autosomal recessive disease characterized by progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA10 patients may also manifest mild ataxia, mild intellectual disability and, rarely, generalized seizures." []
xref: MedGen:CN234752
xref: MeSH:D015418
xref: MIM:616732 "phenotype"
[Term]
id: DI-04625
name: Coenzyme Q10 deficiency, primary, 8
def: "An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10. Patients manifest neonatal lung hypoplasia, contractures, early infantile hypertension and cardiac hypertrophy, secondary to prenatal kidney dysplasia, with neonatal and infantile renal dysfunction. Clinical features also include progressive peripheral neuropathy, muscular hypotonia and atrophy, and mild psychomotor delay with hearing and visual impairment." []
xref: MedGen:CN234873
xref: MeSH:D028361
xref: MIM:616733 "phenotype"
[Term]
id: DI-04626
name: Congenital disorder of glycosylation 2O
def: "A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2O is characterized by hepatosplenomegaly, liver failure, hypotonia, and psychomotor disability." []
synonym: "CDG IIo" [UniProt]
synonym: "CDG-IIo" [UniProt]
synonym: "CDGIIo" [UniProt]
synonym: "Congenital disorder of glycosylation, type IIo" [UniProt]
xref: MedGen:CN235345
xref: MeSH:D018981
xref: MIM:616828 "phenotype"
[Term]
id: DI-04627
name: Congenital disorder of glycosylation 2P
def: "A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2P is characterized by mild metabolic dysfunction, primarily affecting the liver. Psychomotor development is normal." []
synonym: "CDG IIp" [UniProt]
synonym: "CDG-IIp" [UniProt]
synonym: "CDGIIp" [UniProt]
synonym: "Congenital disorder of glycosylation, type IIp" [UniProt]
xref: MedGen:CN235367
xref: MeSH:D018981
xref: MIM:616829 "phenotype"
[Term]
id: DI-04628
name: Skin creases, congenital symmetric circumferential, 1
def: "An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features." []
synonym: "Circumferential skin creases Kunze type" [UniProt]
synonym: "Circumferential skin creases, Kunze type" [UniProt]
synonym: "CSC-KT" [UniProt]
synonym: "Michelin tire baby syndrome" [UniProt]
synonym: "Multiple benign ring-shaped skin creases of limbs" [UniProt]
synonym: "Skin creases, multiple benign ring-shaped, of limbs" [UniProt]
xref: MedGen:C0473586
xref: MeSH:D003483
xref: MeSH:D006222
xref: MeSH:D012868
xref: MIM:156610 "phenotype"
[Term]
id: DI-04629
name: Skin creases, congenital symmetric circumferential, 2
def: "An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features." []
xref: MedGen:CN234753
xref: MeSH:D003483
xref: MeSH:D006222
xref: MeSH:D012868
xref: MIM:616734 "phenotype"
[Term]
id: DI-04630
name: Tremor, hereditary essential 5
def: "A common movement disorder mainly characterized by postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial muscles may also be involved. The condition can be aggravated by emotions, hunger, fatigue and temperature extremes, and may cause a functional disability or even incapacitation. Inheritance is autosomal dominant." []
xref: MedGen:CN234874
xref: MeSH:D020329
xref: MIM:616736 "phenotype"
[Term]
id: DI-04631
name: Takenouchi-Kosaki syndrome
def: "An autosomal dominant syndrome characterized by macrothrombocytopenia, lymphedema, intellectual disability, developmental delay, and distinctive facial features." []
xref: MedGen:CN234779
xref: MeSH:D008607
xref: MeSH:D013921
xref: MIM:616737 "phenotype"
[Term]
id: DI-04632
name: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
def: "An autosomal dominant disease characterized by proximal fusion of the radius and ulna resulting in extremely limited pronation and supination of the forearm, and congenital thrombocytopenia that progresses to pancytopenia." []
synonym: "Radioulnar synostosis and amegakaryocytic thrombocytopenia 2" [UniProt]
xref: MedGen:CN234780
xref: MeSH:D013580
xref: MeSH:D013921
xref: MIM:616738 "phenotype"
[Term]
id: DI-04633
name: Intellectual developmental disorder, autosomal recessive 51
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:CN234875
xref: MeSH:D008607
xref: MIM:616739 "phenotype"
[Term]
id: DI-04634
name: Immunodeficiency 46
def: "An autosomal recessive primary immunodeficiency disorder characterized by early-onset chronic diarrhea, recurrent infections, hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, and intermittent thrombocytopenia." []
xref: MedGen:CN234781
xref: MeSH:D007153
xref: MIM:616740 "phenotype"
[Term]
id: DI-04635
name: Autoinflammatory syndrome, familial, Behcet-like 1
def: "An autosomal dominant, autoinflammatory disorder with early onset, characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas. Additional variable features include skin rash, uveitis, and polyarthritis." []
xref: MedGen:CN234876
xref: MeSH:D056660
xref: MIM:616744 "phenotype"
[Term]
id: DI-04636
name: Heterotaxy, visceral, 7, autosomal
def: "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX7 inheritance is autosomal recessive." []
xref: MedGen:CN235018
xref: MeSH:D059446
xref: MIM:616749 "phenotype"
[Term]
id: DI-04637
name: Spastic paraplegia and psychomotor retardation with or without seizures
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPPRS is an autosomal recessive neurodevelopmental disorder manifesting in infancy. Affected individuals show hypotonia and psychomotor retardation. Most develop seizures." []
xref: MedGen:CN235103
xref: MeSH:D015419
xref: MIM:616756 "phenotype"
[Term]
id: DI-04638
name: Woolly hair autosomal recessive 3
def: "A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. Some individuals may present with hypotrichosis." []
synonym: "Woolly hair, autosomal recessive 3, with hypotrichosis" [UniProt]
xref: MedGen:CN234890
xref: MeSH:D006201
xref: MIM:616760 "phenotype"
[Term]
id: DI-04639
name: Leukodystrophy and acquired microcephaly with or without dystonia
def: "An autosomal recessive neurologic disorder characterized by profound intellectual disability, dystonia, postnatal microcephaly, and white matter abnormalities consistent with leukodystrophy." []
xref: MedGen:CN235017
xref: MeSH:D020279
xref: MIM:616763 "phenotype"
[Term]
id: DI-04640
name: Seckel syndrome 9
def: "A form of Seckel syndrome, a rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability." []
xref: MedGen:CN235015
xref: MeSH:D004392
xref: MeSH:D008831
xref: MIM:616777 "phenotype"
[Term]
id: DI-04641
name: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2
def: "A cerebrovascular disease characterized by multiple subcortical infarcts, pseudobulbar palsy, dementia, and the presence of granular deposits in small cerebral arteries producing ischemic stroke." []
synonym: "Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant, 2" [UniProt]
synonym: "Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2" [UniProt]
xref: MedGen:CN235016
xref: MeSH:D046589
xref: MIM:616779 "phenotype"
[Term]
id: DI-04642
name: Impaired intellectual development and distinctive facial features with or without cardiac defects
def: "An autosomal dominant syndrome characterized by intellectual disability, delayed psychomotor development, profound language impairment, and facial dysmorphism, including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia. There is variable penetrance of cardiac malformations, ranging from no malformations to patent foramen ovale to septal defects and/or transposition of the great arteries." []
synonym: "Asadollahi-Rauch syndrome" [UniProt]
xref: MedGen:CN235106
xref: MeSH:D008607
xref: MIM:616789 "phenotype"
[Term]
id: DI-04643
name: Combined oxidative phosphorylation deficiency 28
def: "An autosomal recessive mitochondrial disorder characterized by decreased activities of respiratory chain enzymes, and variable clinical manifestations. Clinical features include episodic metabolic decompensation beginning in infancy, mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death." []
xref: MedGen:CN235181
xref: MeSH:D028361
xref: MIM:616794 "phenotype"
[Term]
id: DI-04644
name: Spinocerebellar ataxia 42
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA42 is a slowly progressive, autosomal dominant form with variable severity." []
xref: MedGen:CN235171
xref: MeSH:D020754
xref: MIM:616795 "phenotype"
[Term]
id: DI-04645
name: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
def: "An autosomal recessive, neurodegenerative disease characterized by severe truncal hypotonia since birth or early infancy, progressive peripheral spasticity, and profound psychomotor developmental delay. Some patients may have seizures." []
xref: MedGen:CN235179
xref: MeSH:D020271
xref: MIM:616801 "phenotype"
[Term]
id: DI-04646
name: Lamb-Shaffer syndrome
def: "An autosomal dominant, neurodevelopmental disorder characterized by global developmental delay, intellectual disability, language and motor impairment, and distinct facial features. Additional variable skeletal abnormalities may also be present." []
xref: MedGen:CN235184
xref: MeSH:D065886
xref: MIM:616803 "phenotype"
[Term]
id: DI-04647
name: Wilms tumor 6
def: "A pediatric malignancy of kidney, and the most common childhood abdominal malignancy. It is caused by the uncontrolled multiplication of renal stem, stromal, and epithelial cells." []
synonym: "Susceptibility to Wilms tumor 6" [UniProt]
synonym: "Wilms tumor 6, susceptibility to" [UniProt]
synonym: "Wilms tumor, susceptibility to" [UniProt]
xref: MedGen:CN235182
xref: MeSH:D009396
xref: MIM:616806 "phenotype"
[Term]
id: DI-04648
name: Hyperphosphatasia with impaired intellectual development syndrome 6
def: "An autosomal recessive, multisystem disorder characterized by severe developmental delay, dysmorphism, seizures, cataracts, and early death in some patients." []
xref: MedGen:CN235185
xref: MeSH:D008607
xref: MeSH:D010760
xref: MIM:616809 "phenotype"
[Term]
id: DI-04649
name: Combined oxidative phosphorylation deficiency 29
def: "An autosomal recessive, infantile-onset, neurodegenerative disorder characterized by decreased activities of mitochondrial respiratory complexes I and III, severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy." []
xref: MedGen:CN235186
xref: MeSH:D028361
xref: MIM:616811 "phenotype"
[Term]
id: DI-04650
name: Muscular dystrophy, limb-girdle, autosomal recessive 25
def: "An autosomal recessive muscular disorder characterized by slowly progressive onset of proximal lower limb weakness in adulthood, syncopal episodes, and markedly increased serum creatine kinase, which can increase further after strenuous exercise." []
synonym: "Cardiac arrhythmia with increased serum creatine kinase" [UniProt]
synonym: "CARICK" [UniProt]
synonym: "LGMD2X" [UniProt]
synonym: "Limb-girdle muscular dystrophy 2X" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 2X" [UniProt]
xref: MedGen:CN235209
xref: MeSH:D049288
xref: MIM:616812 "phenotype"
[Term]
id: DI-04651
name: Oocyte/zygote/embryo maturation arrest 15
def: "A rare cause of female primary infertility. In affected women, ovulation proceeds normally and the retrieved oocytes appear normal, but zygote formation and division are severely impaired. Inheritance is autosomal recessive." []
synonym: "Preimplantation embryonic lethality 1" [UniProt]
synonym: "PREMBL1" [UniProt]
xref: MedGen:CN235583
xref: MeSH:D007247
xref: MIM:616814 "phenotype"
[Term]
id: DI-04652
name: Microcephaly, short stature, and impaired glucose metabolism 2
def: "An autosomal recessive disease characterized by microcephaly, intellectual disability, short stature, and disturbed glucose metabolism." []
xref: MedGen:CN235207
xref: MeSH:D004392
xref: MeSH:D008831
xref: MeSH:D044882
xref: MIM:616817 "phenotype"
[Term]
id: DI-04653
name: IgA nephropathy 3
def: "A form of IgA nephropathy, a common primary glomerulonephritis characterized by glomerular sclerosis, interstitial fibrosis, and mesangial glomerular deposits of immunoglobulin A and immunoglobulin G visible on renal biopsies. IgA nephropathy is associated with renal insufficiency that can progress to end-stage renal disease. Proteinuria and hematuria are characteristic clinical presentations." []
xref: MedGen:CN235210
xref: MeSH:D005922
xref: MIM:616818 "phenotype"
[Term]
id: DI-04654
name: Agenesis of the corpus callosum, with facial anomalies and cerebellar ataxia
def: "An autosomal recessive intellectual disability syndrome characterized by congenital microcephaly, low anterior hairline, bitemporal narrowing, low-set protruding ears, strabismus and tented thick eyebrows with sparse hair in their medial segment." []
synonym: "Birk-Flusser syndrome" [UniProt]
synonym: "Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia" [UniProt]
xref: MedGen:CN235211
xref: MeSH:D061085
xref: MIM:616819 "phenotype"
[Term]
id: DI-04655
name: Pregnancy loss, recurrent, 4
def: "A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions." []
xref: MedGen:C3279437
xref: MeSH:D000026
xref: MIM:270960 "phenotype"
[Term]
id: DI-04656
name: Vibratory urticaria
def: "An autosomal dominant disorder characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum." []
synonym: "Dermodistortive urticaria" [UniProt]
synonym: "Vibratory angioedema" [UniProt]
xref: MedGen:C1852146
xref: MeSH:D000799
xref: MIM:125630 "phenotype"
[Term]
id: DI-04657
name: Spinocerebellar ataxia, autosomal recessive, 2
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR2 is characterized by onset of impaired motor development and ataxic gait in early childhood. Additional features often include loss of fine motor skills, dysarthria, nystagmus, cerebellar signs, and delayed cognitive development with intellectual disability." []
synonym: "Cerebellar hypoplasia, non-progressive Norman type" [UniProt]
synonym: "Cerebelloparenchymal disorder III" [UniProt]
synonym: "CPD III" [UniProt]
synonym: "CPD3" [UniProt]
xref: MedGen:C1859298
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:213200 "phenotype"
[Term]
id: DI-04658
name: Al-Gazali-Bakalinova syndrome
def: "An autosomal recessive syndrome consisting of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance." []
synonym: "Macrocephaly with multiple epiphyseal dysplasia and distinctive facies" [UniProt]
synonym: "MMEDF" [UniProt]
xref: MedGen:C1846722
xref: MeSH:D010009
xref: MeSH:D019465
xref: MIM:607131 "phenotype"
[Term]
id: DI-04659
name: Spastic paraplegia, optic atrophy, and neuropathy
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPOAN is characterized by spastic paraplegia with progressive joint contractures and spine deformities, loss of independent ambulation by age 10 years, sub-normal vision secondary to congenital optic atrophy, and neuropathy. Inheritance is autosomal recessive." []
xref: MedGen:C1836010
xref: MeSH:D015419
xref: MIM:609541 "phenotype"
[Term]
id: DI-04660
name: Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue
def: "An autosomal recessive muscular dystrophy characterized by childhood- onset of muscle weakness progressing to a severe quadriparesis. Additionally, patients have biventricular cardiac dysfunction due to dilated cardiomyopathy, and macroglossia with a small tip resulting in a triangular tongue." []
synonym: "LGMD2W" [UniProt]
synonym: "Limb-girdle muscular dystrophy 2W" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 2W" [UniProt]
xref: MedGen:CN235330
xref: MeSH:D049288
xref: MIM:616827 "phenotype"
[Term]
id: DI-04661
name: Luscan-Lumish syndrome
def: "An autosomal dominant syndrome with a variable phenotype. Clinical features include macrocephaly, distinctive facial appearance, postnatal overgrowth, various degrees of learning difficulties, autism spectrum disorder, and intellectual disability." []
xref: MedGen:CN235340
xref: MeSH:D065886
xref: MIM:616831 "phenotype"
[Term]
id: DI-04662
name: Paget disease of bone 6
def: "An autosomal dominant form of Paget disease, a disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone. PDB6 is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton. In some cases, the pagetic tissue undergoes neoplastic transformation, resulting in osteosarcoma and, less frequently, in giant cell tumor of bone." []
xref: MedGen:CN235346
xref: MeSH:D010001
xref: MIM:616833 "phenotype"
[Term]
id: DI-04663
name: Microcephaly, congenital cataract, and psoriasiform dermatitis
def: "An autosomal recessive inborn error of cholesterol metabolism characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected individuals. Patients manifest psoriasiform dermatitis, arthralgias, congenital cataracts, microcephaly, and developmental delay." []
synonym: "SC4MOL deficiency" [UniProt]
xref: MedGen:CN235344
xref: MeSH:D008052
xref: MIM:616834 "phenotype"
[Term]
id: DI-04664
name: Meier-Gorlin syndrome 6
def: "A form of Meier-Gorlin syndrome, a syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal." []
xref: MedGen:CN235347
xref: MeSH:D006130
xref: MeSH:D008844
xref: MIM:616835 "phenotype"
[Term]
id: DI-04665
name: Encephalocraniocutaneous lipomatosis
def: "A sporadically occurring, neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system anomalies. Clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, intracranial and intraspinal lipomas, and congenital abnormalities of the meninges. Seizures, spasticity, and intellectual disability can be present." []
xref: MedGen:C0406612
xref: MeSH:D008068
xref: MeSH:D020752
xref: MIM:613001 "phenotype"
[Term]
id: DI-04666
name: Intellectual developmental disorder, X-linked 99, syndromic, female-restricted
def: "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning, associated with impairments in adaptive behavior and manifested during the developmental period. MRXS99F affected females manifest intellectual disability, developmental delay, facial dysmorphism, short stature, and distinct congenital malformations comprising choanal atresia, anal abnormalities, post-axial polydactyly, heart defects, hypomastia, cleft palate/bifid uvula, progressive scoliosis, and structural brain abnormalities. Inheritance is X-linked dominant." []
xref: MedGen:CN235381
xref: MeSH:D038901
xref: MIM:300968 "phenotype"
[Term]
id: DI-04667
name: Exercise intolerance, riboflavin-responsive
def: "A riboflavin-responsive form of exercise intolerance, a condition characterized by failure to maintain an expected level of force during sustained or repeated muscle contraction, resulting in an overwhelming sense of tiredness, lack of energy and feeling of exhaustion. RREI transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN235382
xref: MeSH:D009135
xref: MIM:616839 "phenotype"
[Term]
id: DI-04668
name: Parkinson disease 23, autosomal recessive, early onset
def: "An autosomal recessive, early-onset form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain." []
xref: MedGen:CN235610
xref: MeSH:D020734
xref: MIM:616840 "phenotype"
[Term]
id: DI-04669
name: Lymphatic malformation 6
def: "A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM6 is an autosomal recessive, severe form manifesting as generalized lymphatic dysplasia. It is characterized by uniform, widespread swelling of all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions, and with a high incidence of non- immune hydrops fetalis." []
synonym: "Generalized lymphatic dysplasia of Fotiou" [UniProt]
synonym: "LMPH3" [UniProt]
synonym: "Lymphedema, hereditary, 3" [UniProt]
synonym: "Lymphedema, hereditary, III" [UniProt]
xref: MedGen:CN235387
xref: MeSH:D008209
xref: MIM:616843 "phenotype"
[Term]
id: DI-04670
name: Brachydactyly A1, D
def: "A form of brachydactyly type A1. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. BDA1D inheritance is autosomal dominant." []
synonym: "Brachydactyly, type A1, D" [UniProt]
xref: MedGen:CN235465
xref: MeSH:D059327
xref: MIM:616849 "phenotype"
[Term]
id: DI-04671
name: Cataract 45
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function." []
xref: MedGen:CN235470
xref: MeSH:D002386
xref: MIM:616851 "phenotype"
[Term]
id: DI-04672
name: Myopathy, scapulohumeroperoneal
def: "An autosomal dominant muscular disorder characterized by progressive muscle weakness with initial scapulo-humeral-peroneal and distal distribution. Over time, muscle weakness progresses to proximal muscle groups. Clinical characteristics include scapular winging, mild lower facial weakness, foot drop due to foot eversion and dorsiflexion weakness, and selective muscle atrophy. Age at onset and disease progression are variable." []
xref: MedGen:CN235510
xref: MeSH:D009135
xref: MIM:616852 "phenotype"
[Term]
id: DI-04673
name: Cerebellar atrophy, visual impairment, and psychomotor retardation
def: "An autosomal recessive, neurodegenerative disorder characterized by developmental delay, intellectual disability, hypotonia, scoliosis, cerebellar atrophy, and variable dysmorphic features." []
xref: MedGen:CN235863
xref: MeSH:D002526
xref: MeSH:D019636
xref: MIM:616875 "phenotype"
[Term]
id: DI-04674
name: Metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
def: "An autosomal recessive disorder characterized by metabolic encephalomyopathic crises, hypoglycemia, hyperammonemia, episodic rhabdomyolysis, susceptibility to life-threatening cardiac tachyarrhythmias, developmental delay, intellectual disability, and mild diffuse cerebral atrophy." []
synonym: "Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" [UniProt]
xref: MedGen:CN235671
xref: MeSH:D012206
xref: MeSH:D019636
xref: MIM:616878 "phenotype"
[Term]
id: DI-04675
name: Stuttering, familial persistent 1
def: "A familial form of stuttering, a disturbance in the normal fluency and time patterning of speech, characterized by frequent repetitions or prolongations of sounds or syllables, and by interruptions of speech known as blocks. STUT1 inheritance is autosomal dominant." []
synonym: "Stammering" [UniProt]
xref: MedGen:C0038131
xref: MedGen:C3489627
xref: MeSH:D013342
xref: MIM:184450 "phenotype"
[Term]
id: DI-04676
name: Even-plus syndrome
def: "An autosomal recessive syndrome characterized by epiphyseal and vertebral dysplasia, prenatal-onset short stature, a distinct craniofacial phenotype with microtia, a flat facial profile with flat nose and triangular nares, cardiac malformations, and additional findings such as anal atresia, hypodontia, aplasia cutis, and others." []
synonym: "Epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations" [UniProt]
xref: MedGen:CN235493
xref: MeSH:D000015
xref: MIM:616854 "phenotype"
[Term]
id: DI-04677
name: Anemia, sideroblastic, 4
def: "A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA4 has been reported to be inherited as an autosomal recessive disease, with a pseudodominant pattern of inheritance in some families." []
xref: MedGen:C2674249
xref: MeSH:D000756
xref: MIM:182170 "phenotype"
[Term]
id: DI-04678
name: Anemia, sideroblastic, 3, pyridoxine-refractory
def: "A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA3 is refractory to treatment with vitamin B6, while iron chelation therapy may result in clinical improvement. SIDBA3 inheritance is autosomal recessive." []
xref: MedGen:CN235585
xref: MeSH:D000756
xref: MIM:616860 "phenotype"
[Term]
id: DI-04679
name: Cowden syndrome 7
def: "A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. CWS7 inheritance is autosomal dominant." []
xref: MedGen:CN235533
xref: MeSH:D006223
xref: MIM:616858 "phenotype"
[Term]
id: DI-04680
name: Spasticity, childhood-onset, with hyperglycinemia
def: "An autosomal recessive disorder characterized by childhood-onset of spasticity, spinal lesions, leukodystrophy, optic atrophy in some patients, non-ketotic hyperglycinemia, and defective enzymatic glycine cleavage. Glycine levels in the cerebrospinal fluid are mildly increased in some but not all patients. The increase is less pronounced than in patients with classic non-ketotic hyperglycinemia." []
xref: MedGen:CN235584
xref: MeSH:D020158
xref: MIM:616859 "phenotype"
[Term]
id: DI-04681
name: Spinal muscular atrophy with congenital bone fractures 1
def: "An autosomal recessive neuromuscular disorder characterized by prenatal-onset spinal muscular atrophy, multiple congenital contractures consistent with arthrogryposis multiplex congenita, respiratory distress, and congenital bone fractures." []
synonym: "Spinal muscular atrophy, type I, with congenital bone fractures" [UniProt]
xref: MedGen:CN235620
xref: MeSH:D009134
xref: MIM:616866 "phenotype"
[Term]
id: DI-04682
name: Spinal muscular atrophy with congenital bone fractures 2
def: "An autosomal recessive neuromuscular disorder characterized by prenatal-onset spinal muscular atrophy, multiple congenital contractures consistent with arthrogryposis multiplex congenita, respiratory distress, and congenital bone fractures." []
xref: MedGen:CN235621
xref: MeSH:D009134
xref: MIM:616867 "phenotype"
[Term]
id: DI-04683
name: Diarrhea 8, secretory sodium, congenital
def: "A disease characterized by watery secretory diarrhea with prenatal onset, prominent abdominal distension after birth due to dilated fluid-filled loops of intestine, elevated fecal sodium concentrations and low urinary sodium concentrations." []
xref: MedGen:CN235609
xref: MeSH:D003968
xref: MIM:616868 "phenotype"
[Term]
id: DI-04684
name: Spinocerebellar ataxia with epilepsy
def: "An autosomal recessive syndrome characterized by headaches and/or seizures manifesting in childhood or adolescence, cerebellar and sensory ataxia, dysarthria, and myoclonus manifesting in early adulthood. Neuropathological findings include spinocerebellar degeneration associated with cortical neuronal degeneration in advanced cases." []
synonym: "Epilepsy, progressive myoclonic 5" [UniProt]
synonym: "EPM5" [UniProt]
synonym: "Progressive myoclonic epilepsy with sensory ataxic neuropathy" [UniProt]
xref: MedGen:C3151194
xref: MeSH:D013132
xref: MeSH:D020191
xref: MIM:607459 "phenotype"
[Term]
id: DI-04685
name: Deafness, autosomal recessive, 68
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:C1835854
xref: MeSH:D006319
xref: MIM:610419 "phenotype"
[Term]
id: DI-04686
name: Stromme syndrome
def: "An autosomal recessive congenital disorder characterized by intestinal atresia, ocular anomalies, microcephaly, and renal and cardiac abnormalities in some patients. The disease has features of a ciliopathy, and lethality in early childhood is observed in severe cases." []
synonym: "Apple peel syndrome with microcephaly and ocular anomalies" [UniProt]
synonym: "CILD31" [UniProt]
synonym: "Ciliary dyskinesia, primary, 31" [UniProt]
synonym: "Jejunal atresia with microcephaly and ocular anomalies" [UniProt]
xref: MedGen:C1855705
xref: MeSH:D002925
xref: MeSH:D005124
xref: MeSH:D007409
xref: MeSH:D008831
xref: MIM:243605 "phenotype"
[Term]
id: DI-04687
name: Myeloproliferative/lymphoproliferative neoplasms, familial
def: "A familial cancer predisposition syndrome with incomplete penetrance, characterized by increased susceptibility to myeloid neoplasms and rarely to lymphoid malignancies. MPLPF inheritance is autosomal dominant." []
synonym: "Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types)" [UniProt]
xref: MedGen:CN235622
xref: MeSH:D008223
xref: MeSH:D054437
xref: MIM:616871 "phenotype"
[Term]
id: DI-04688
name: Immunodeficiency, common variable, 13
def: "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. CVID13 is an autosomal dominant disease associated with a striking decrease in B-cell numbers." []
xref: MedGen:CN235673
xref: MeSH:D017074
xref: MIM:616873 "phenotype"
[Term]
id: DI-04689
name: Marfanoid-progeroid-lipodystrophy syndrome
def: "An autosomal dominant syndrome characterized by congenital lipodystrophy, a progeroid facial appearance due to lack of subcutaneous fat, and variable signs of Marfan syndrome. Clinical features include premature birth with an accelerated linear growth disproportionate to the weight gain, ectopia lentis, aortic dilatation, dural ectasia, and arachnodactyly. Mental and motor development are within normal limits." []
synonym: "Marfan lipodystrophy syndrome" [UniProt]
synonym: "Marfan-progeroid-lipodystrophy syndrome" [UniProt]
synonym: "Marfanoid-progeroid syndrome" [UniProt]
xref: MedGen:C4310796
xref: MeSH:D008060
xref: MeSH:D008382
xref: MIM:616914 "phenotype"
[Term]
id: DI-04690
name: Behr syndrome
def: "An autosomal recessive syndrome characterized by optic atrophy beginning in early childhood associated with ataxia, pyramidal signs, spasticity, intellectual disability, and posterior column sensory loss. The ataxia, spasticity, and muscle contractures, mainly of the hip adductors, hamstrings, and soleus, are progressive and become more prominent in the second decade." []
synonym: "Infantile hereditary optic atrophy with neurologic abnormalities" [UniProt]
synonym: "Optic atrophy, infantile hereditary, with neurologic abnormalities" [UniProt]
xref: MedGen:C0221061
xref: MeSH:D001259
xref: MeSH:D008607
xref: MeSH:D009896
xref: MeSH:D013035
xref: MIM:210000 "phenotype"
[Term]
id: DI-04691
name: Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type
def: "An autosomal recessive mitochondrial disorder characterized by lethal infantile encephalopathy, hypertrophic cardiomyopathy and optic atrophy. Skeletal muscle biopsies show significant mtDNA depletion and abnormal mitochondria." []
synonym: "Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)" [UniProt]
synonym: "Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)" [UniProt]
xref: MedGen:CN236288
xref: MeSH:D017240
xref: MIM:616896 "phenotype"
[Term]
id: DI-04692
name: Coffin-Siris syndrome 1
def: "A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported." []
synonym: "Coffin-Siris syndrome" [UniProt]
synonym: "CSS" [UniProt]
synonym: "Fifth digit syndrome" [UniProt]
synonym: "HHID" [UniProt]
synonym: "MRD12" [UniProt]
xref: MedGen:C0265338
xref: MeSH:D000015
xref: MeSH:D008607
xref: MIM:135900 "phenotype"
[Term]
id: DI-04693
name: Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy
def: "An autosomal recessive disorder characterized by delayed psychomotor development, hypotonia, and early-onset seizures in most patients. Additional variable features are cerebellar atrophy, ataxia, and non- specific dysmorphic features. Some patients may have the Emm-null blood group phenotype." []
synonym: "Glycosylphosphatidylinositol biosynthesis defect 13" [UniProt]
synonym: "GPIBD13" [UniProt]
synonym: "Intellectual developmental disorder, autosomal recessive 53" [UniProt]
synonym: "MRT53" [UniProt]
xref: MedGen:CN236397
xref: MeSH:D008607
xref: MIM:616917 "phenotype"
[Term]
id: DI-04694
name: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
def: "An autosomal recessive neurodevelopmental disorder characterized by profound developmental disability, intellectual disability and severe hypotonia. Many patients have seizures, and show brain atrophy, dysgenesis of the corpus callosum and white-matter changes on neuroimaging. Non-specific facial dysmorphism is noted in some individuals." []
xref: MedGen:CN236357
xref: MeSH:D009422
xref: MIM:616900 "phenotype"
[Term]
id: DI-04695
name: Leukodystrophy, hypomyelinating, 13
def: "An autosomal recessive neurodegenerative disorder with infantile onset, affecting mainly the central white matter. Clinical features include early feeding difficulties, global developmental delay, postnatal progressive microcephaly, truncal hypotonia, spasticity, and variable neurologic deficits, such as visual impairment." []
xref: MedGen:CN235881
xref: MeSH:D020279
xref: MIM:616881 "phenotype"
[Term]
id: DI-04696
name: Advanced sleep phase syndrome, familial, 3
def: "An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms." []
xref: MedGen:CN235882
xref: MeSH:D020178
xref: MIM:616882 "phenotype"
[Term]
id: DI-04697
name: Intellectual developmental disorder, autosomal recessive 52
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT52 clinical features include global developmental delay, severe intellectual disability with poor speech, and mild seizures in early childhood." []
xref: MedGen:CN235883
xref: MeSH:D008607
xref: MIM:616887 "phenotype"
[Term]
id: DI-04698
name: Split-foot malformation with mesoaxial polydactyly
def: "An autosomal recessive disorder characterized by a split-foot defect, mesoaxial polydactyly, nail abnormalities of the hands, and sensorineural hearing loss." []
xref: MedGen:CN235903
xref: MeSH:D005532
xref: MeSH:D017689
xref: MIM:616890 "phenotype"
[Term]
id: DI-04699
name: Nephrotic syndrome 12
def: "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS12 inheritance is autosomal recessive." []
xref: MedGen:CN235925
xref: MeSH:D009404
xref: MIM:616892 "phenotype"
[Term]
id: DI-04700
name: Nephrotic syndrome 13
def: "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure." []
xref: MedGen:CN235926
xref: MeSH:D009404
xref: MIM:616893 "phenotype"
[Term]
id: DI-04701
name: Robinow syndrome, autosomal dominant 3
def: "A form of Robinow syndrome, a rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, genital hypoplasia, renal anomalies, and costovertebral segmentation defects." []
xref: MedGen:CN235904
xref: MeSH:D004392
xref: MeSH:D014564
xref: MeSH:D017880
xref: MeSH:D019465
xref: MIM:616894 "phenotype"
[Term]
id: DI-04702
name: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type
def: "An autosomal recessive, lethal syndrome characterized by severe hypomineralization of the entire skeleton, severe osteopenia, microcephaly, multiple intra-uterine fractures, and multiple congenital developmental anomalies affecting the brain, lungs, and kidneys." []
xref: MedGen:CN235911
xref: MeSH:D010009
xref: MIM:616897 "phenotype"
[Term]
id: DI-04703
name: Developmental delay with short stature, dysmorphic facial features, and sparse hair 1
def: "An autosomal recessive syndrome characterized by intellectual disability, short stature, and craniofacial and ectodermal anomalies including scaphocephaly with or without craniosynostosis, prominent forehead, sparse eyebrows and hair, hypoplastic toenails and, in some cases, dental anomalies." []
synonym: "Diphthamide deficiency syndrome 1" [UniProt]
synonym: "Loucks-Innes syndrome" [UniProt]
xref: MedGen:CN236358
xref: MeSH:D001848
xref: MeSH:D004476
xref: MeSH:D008607
xref: MIM:616901 "phenotype"
[Term]
id: DI-04704
name: Immunodeficiency-centromeric instability-facial anomalies syndrome 3
def: "A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients." []
xref: MedGen:CN236377
xref: MeSH:D007153
xref: MeSH:D043171
xref: MIM:616910 "phenotype"
[Term]
id: DI-04705
name: Immunodeficiency-centromeric instability-facial anomalies syndrome 4
def: "A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients." []
xref: MedGen:CN236378
xref: MeSH:D007153
xref: MeSH:D043171
xref: MIM:616911 "phenotype"
[Term]
id: DI-04706
name: Bleeding disorder, platelet-type, 20
def: "A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. BDPLT20 is characterized by moderate thrombocytopenia and platelet secretion defects. Inheritance is autosomal dominant." []
xref: MedGen:CN236379
xref: MeSH:D001791
xref: MeSH:D006470
xref: MIM:616913 "phenotype"
[Term]
id: DI-04707
name: Dyskinesia, limb and orofacial, infantile-onset
def: "An autosomal recessive, early-onset hyperkinetic movement disorder characterized by axial hypotonia, dyskinesia of the limbs and trunk, orofacial dyskinesia, drooling, and dysarthria. The severity of the hyperkinesis is variable." []
xref: MedGen:CN236398
xref: MeSH:D020820
xref: MIM:616921 "phenotype"
[Term]
id: DI-04708
name: Striatal degeneration, autosomal dominant 2
def: "An autosomal dominant disorder characterized by striatal degeneration and dysfunction of basal ganglia, resulting in hyperkinesis." []
xref: MedGen:CN236399
xref: MeSH:D001480
xref: MeSH:D006948
xref: MIM:616922 "phenotype"
[Term]
id: DI-04709
name: Charcot-Marie-Tooth disease, axonal, 2CC
def: "An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy." []
synonym: "Charcot-Marie-Tooth disease, axonal, type 2CC" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy, type 2CC" [UniProt]
xref: MedGen:CN236395
xref: MeSH:D002607
xref: MIM:616924 "phenotype"
[Term]
id: DI-04710
name: Macular dystrophy, patterned, 2
def: "A form of retinal patterned dystrophy, a heterogeneous group of macular disorders caused by abnormal accumulation of lipofuscin in the retinal pigment epithelium. Lipofuscin distribution can show various shapes that define different types of macular dystrophy, including reticular (fishnet-like) dystrophy, macroreticular (spider-shaped) dystrophy and butterfly-shaped pigment dystrophy. MDPT2 is an autosomal dominant form characterized by bilateral accumulation of pigment in the macular area that resembles the wings of a butterfly." []
synonym: "Macular dystrophy, butterfly-shaped pigmentary, 2" [UniProt]
xref: MedGen:C1837029
xref: MeSH:D058499
xref: MIM:608970 "phenotype"
[Term]
id: DI-04711
name: Alzheimer disease 9
def: "A familial, late-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid- beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death." []
xref: MedGen:C1837149
xref: MeSH:D000544
xref: MIM:608907 "phenotype"
[Term]
id: DI-04712
name: Osteofibrous dysplasia
def: "A congenital disorder of osteogenesis characterized by non-neoplastic, radiolucent lesions that affect the cortical bone immediately under the periosteum. It usually manifests as a painless swelling or anterior bowing of the long bones, most commonly the tibia and fibula." []
synonym: "Bowing of tibia with pseudarthrosis and pectus excavatum" [UniProt]
synonym: "OFD" [UniProt]
xref: MedGen:C1709353
xref: MeSH:D001848
xref: MIM:607278 "phenotype"
[Term]
id: DI-04713
name: Spinocerebellar ataxia, autosomal recessive, 22
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR22 patients manifest variable severity of intellectual disability associated with adult-onset cerebellar ataxia." []
xref: MedGen:CN236706
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:616948 "phenotype"
[Term]
id: DI-04714
name: Spinocerebellar ataxia, autosomal recessive, 23
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR23 patients manifest epilepsy, intellectual disability, and gait ataxia." []
xref: MedGen:CN236707
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:616949 "phenotype"
[Term]
id: DI-04715
name: Bartter syndrome 5, antenatal, transient
def: "An X-linked recessive form of Bartter syndrome, a disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS5 is an antenatal form beginning in utero with marked fetal polyuria that leads to polyhydramnios and premature delivery. It is characterized by severe but transient symptoms that can resolve with age." []
synonym: "Bartter syndrome, type 5, antenatal, transient" [UniProt]
xref: MedGen:CN236697
xref: MeSH:D001477
xref: MIM:300971 "phenotype"
[Term]
id: DI-04716
name: Intellectual developmental disorder, autosomal dominant 41
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD41 patients manifest delayed psychomotor development, variable severity of intellectual disability, and delayed language. Non-specific dysmorphic features and autistic behavior is observed in some patients." []
xref: MedGen:C4310784
xref: MeSH:D008607
xref: MIM:616944 "phenotype"
[Term]
id: DI-04717
name: Agammaglobulinemia 8A, autosomal dominant
def: "A form of agammaglobulinemia, a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life." []
synonym: "Agammaglobulinemia, autosomal dominant, due to TCF3 defect" [UniProt]
xref: MedGen:CN236422
xref: MeSH:D000361
xref: MIM:616941 "phenotype"
[Term]
id: DI-04718
name: Coffin-Siris syndrome 5
def: "A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported." []
xref: MedGen:CN236417
xref: MeSH:D000015
xref: MeSH:D008607
xref: MIM:616938 "phenotype"
[Term]
id: DI-04719
name: Thrombocytopenia 6
def: "A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC6 is an autosomal dominant form. Affected individuals may also have bone abnormalities and an increased risk for myelofibrosis." []
synonym: "Thrombocytopenia, autosomal dominant, 6" [UniProt]
xref: MedGen:CN236410
xref: MeSH:D013921
xref: MIM:616937 "phenotype"
[Term]
id: DI-04720
name: Trichothiodystrophy 6, non-photosensitive
def: "A form of trichothiodystrophy, a disease characterized by sulfur- deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD6 patients do not manifest cutaneous photosensitivity. Inheritance pattern has been reported to be autosomal recessive." []
xref: MedGen:CN236419
xref: MeSH:D054463
xref: MIM:616943 "phenotype"
[Term]
id: DI-04721
name: Spermatogenic failure, 15
def: "An infertility disorder caused by spermatogenesis defects and characterized by non-obstructive azoospermia due to complete meiotic maturation arrest. SPGF15 inheritance is autosomal recessive." []
xref: MedGen:CN236703
xref: MeSH:D007248
xref: MIM:616950 "phenotype"
[Term]
id: DI-04722
name: Premature ovarian failure 11
def: "An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol." []
xref: MedGen:CN236436
xref: MeSH:D016649
xref: MIM:616946 "phenotype"
[Term]
id: DI-04723
name: Premature ovarian failure 12
def: "An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol." []
xref: MedGen:CN236701
xref: MeSH:D016649
xref: MIM:616947 "phenotype"
[Term]
id: DI-04724
name: Chorea, childhood-onset, with psychomotor retardation
def: "An autosomal recessive neurodevelopmental disorder characterized by abnormal involuntary movements, marked speech delay, intellectual disability and learning difficulties." []
xref: MedGen:CN236418
xref: MeSH:D002819
xref: MeSH:D008607
xref: MIM:616939 "phenotype"
[Term]
id: DI-04725
name: Retinitis pigmentosa and erythrocytic microcytosis
def: "An autosomal recessive disease characterized by retinitis pigmentosa, red blood cell microcytosis and anisocytosis with mild anemia." []
xref: MedGen:CN236716
xref: MeSH:D006402
xref: MeSH:D012174
xref: MIM:616959 "phenotype"
[Term]
id: DI-04726
name: Hypercalcemia, infantile, 2
def: "An autosomal recessive form of hypercalcemia, a disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis." []
xref: MedGen:CN236717
xref: MeSH:D006934
xref: MIM:616963 "phenotype"
[Term]
id: DI-04728
name: Deafness, autosomal dominant, 70
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA70 is characterized by slowly progressive, postlingual hearing impairment." []
xref: MedGen:CN236721
xref: MeSH:D006319
xref: MIM:616968 "phenotype"
[Term]
id: DI-04729
name: Deafness, autosomal dominant, 66
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN236722
xref: MeSH:D006319
xref: MIM:616969 "phenotype"
[Term]
id: DI-04730
name: Spondyloepimetaphyseal dysplasia, Genevieve type
def: "An autosomal recessive disorder characterized by global developmental delay with infantile onset, intellectual disability, skeletal dysplasia, and short stature. Skeletal findings include flat vertebral bodies with irregular vertebral plates, irregular and flared metaphyses with vertical striations, small and irregular epiphyses, premature carpal ossification and small carpal bones." []
synonym: "NANS deficiency" [UniProt]
synonym: "SEMD Genevieve type" [UniProt]
xref: MedGen:C1864872
xref: MeSH:D010009
xref: MIM:610442 "phenotype"
[Term]
id: DI-04731
name: Intellectual developmental disorder, autosomal dominant 42
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD42 patients manifest global developmental delay commonly accompanied by hypotonia, seizures of various types, ophthalmological manifestations, and poor growth." []
xref: MedGen:CN236792
xref: MeSH:D008607
xref: MIM:616973 "phenotype"
[Term]
id: DI-04732
name: Spastic paraplegia 62, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body." []
xref: MedGen:CN236705
xref: MeSH:D015419
xref: MIM:615681 "phenotype"
[Term]
id: DI-04733
name: Spastic paraplegia 76, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body." []
xref: MedGen:CN236413
xref: MeSH:D015419
xref: MIM:616907 "phenotype"
[Term]
id: DI-04734
name: Heart and brain malformation syndrome
def: "An autosomal recessive syndrome characterized by multiple congenital anomalies such as cardiac defects, brain malformations, including cerebellar vermis hypoplasia, hypoplastic corpus callosum and Dandy- Walker malformation, profoundly delayed psychomotor development, microphthalmia, and facial dysmorphism." []
synonym: "NEDHBM" [UniProt]
synonym: "Neurodevelopmental disorder with heart and brain malformations" [UniProt]
xref: MedGen:CN236407
xref: MeSH:D000015
xref: MIM:616920 "phenotype"
[Term]
id: DI-04735
name: Deafness, congenital, with onychodystrophy, autosomal dominant
def: "An autosomal dominant syndrome characterized mainly by congenital sensorineural hearing loss accompanied by dystrophic or absent nails. Coniform teeth, selective tooth agenesis, and hands and feet abnormalities are present in some patients." []
synonym: "DDOD syndrome" [UniProt]
xref: MedGen:C2675730
xref: MeSH:D003638
xref: MeSH:D009264
xref: MeSH:D014071
xref: MIM:124480 "phenotype"
[Term]
id: DI-04736
name: Pierpont syndrome
def: "An autosomal dominant syndrome characterized by multiple congenital anomalies, global developmental delay, learning disability, palmar and plantar fat pads, and distinctive facial characteristics, especially when smiling." []
synonym: "Plantar lipomatosis, unusual facies, and developmental delay" [UniProt]
xref: MedGen:C1865644
xref: MeSH:D002658
xref: MeSH:D008068
xref: MeSH:D019066
xref: MIM:602342 "phenotype"
[Term]
id: DI-04737
name: Gillessen-Kaesbach-Nishimura syndrome
def: "A rare autosomal recessive syndrome characterized by severe skeletal dysplasia, facial dysmorphic features, polycystic kidney disease and other visceral malformations. It may be lethal in utero or early in life. The skeletal features uniformly comprise a round pelvis, mesomelic shortening of the upper limbs and defective ossification of the cervical spine." []
synonym: "Polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia" [UniProt]
xref: MedGen:C1849762
xref: MeSH:D004480
xref: MeSH:D006972
xref: MeSH:D017044
xref: MIM:263210 "phenotype"
[Term]
id: DI-04738
name: Lymphoma, mucosa-associated lymphoid type
def: "A subtype of non-Hodgkin lymphoma, originating in mucosa-associated lymphoid tissue. MALT lymphomas occur most commonly in the gastro- intestinal tract but have been described in a variety of extranodal sites including the ocular adnexa, salivary gland, thyroid, lung, thymus, and breast. Histologically, they are characterized by an infiltrate of small to medium-sized lymphocytes with abundant cytoplasm and irregularly shaped nuclei. Scattered transformed blasts (large cells) also are present. Non-malignant reactive follicles are observed frequently. A pivotal feature is the presence of lymphoepithelial lesions, with invasion and partial destruction of mucosal glands and crypts by aggregates of tumor cells." []
synonym: "Gastric lymphoma, primary" [UniProt]
synonym: "Lymphoma, MALT, somatic" [UniProt]
synonym: "MALT lymphoma" [UniProt]
synonym: "Marginal zone B-cell lymphoma" [UniProt]
synonym: "Primary gastric lymphoma" [UniProt]
xref: MedGen:C1850900
xref: MeSH:D018442
xref: MIM:137245 "phenotype"
[Term]
id: DI-04739
name: Cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy
def: "A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT46 can be associated with variable onset of a severe form of arrhythmic cardiomyopathy resulting in sudden cardiac death." []
synonym: "Cataract Hutterite type" [UniProt]
synonym: "Cataract, juvenile, Hutterite type" [UniProt]
xref: MedGen:C2931791
xref: MeSH:D002386
xref: MIM:212500 "phenotype"
[Term]
id: DI-04740
name: Brachydactyly-syndactyly-oligodactyly syndrome
def: "A syndrome characterized by a complex brachydactyly-syndactyly- oligodactyly phenotype. Limb anomalies include reduced number of digits that are severely shortened, camptodactyly, syndactyly, absence of terminal phalanges of the thumbs, and absence of nails of the thumbs and toes." []
xref: MedGen:C1853137
xref: MeSH:D013576
xref: MeSH:D059327
xref: MIM:610713 "phenotype"
[Term]
id: DI-04741
name: Micropenis
def: "A disease trait defined as a stretched penile length of less than 2.5 standard deviations below the mean for age. Traditionally, the term micropenis refers to a penis that is otherwise normally formed. The term microphallus is used when associated hypospadias is present. The mean stretched penile length in a full-term newborn male is 3.5 cm. Measurements of less than 2-2.5 cm in a full-term newborn male meet the definition of micropenis." []
synonym: "Microphallus" [UniProt]
xref: MedGen:C0266435
xref: MedGen:CN000054
xref: MeSH:D058490
xref: MIM:264600 "phenotype"
[Term]
id: DI-04742
name: Arrhythmogenic right ventricular dysplasia 11, familial, and mild palmoplantar keratoderma and woolly hair
def: "An autosomal recessive disease characterized by arrhythmogenic cardiomyopathy in association with palmoplantar keratoderma and woolly hair." []
synonym: "Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair" [UniProt]
synonym: "ARVD and mild palmoplantar keratoderma with or without woolly hair" [UniProt]
xref: MedGen:C3552311
xref: MeSH:D007645
xref: MeSH:D019571
xref: MIM:610476 "phenotype"
[Term]
id: DI-04743
name: Immunodeficiency 47
def: "A complex immunodeficiency syndrome characterized by hypogammaglobulinemia, recurrent bacterial infections, defective glycosylation of serum proteins, and liver disease with neonatal jaundice and hepatosplenomegaly. Some patients may also have neurologic features, including seizures, mild intellectual disability, and behavioral abnormalities. Inheritance is X-linked recessive." []
synonym: "CDG IIs" [UniProt]
synonym: "CDG2S" [UniProt]
synonym: "CDGIIs" [UniProt]
synonym: "Congenital disorder of glycosylation 2S" [UniProt]
synonym: "Congenital disorder of glycosylation, type IIs" [UniProt]
synonym: "Immunodeficiency and hepatopathy with or without neurologic features" [UniProt]
xref: MedGen:CN236829
xref: MeSH:D007153
xref: MIM:300972 "phenotype"
[Term]
id: DI-04744
name: You-Hoover-Fong syndrome
def: "A syndrome characterized by severe global developmental delay, intellectual disability, dysmorphic facial features, microcephaly, abnormal movements, congenital heart disease comprising developmental abnormalities of the great vessels, and abnormal auditory and visual function. The transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN236793
xref: MeSH:D000015
xref: MeSH:D008607
xref: MIM:616954 "phenotype"
[Term]
id: DI-04745
name: Combined oxidative phosphorylation deficiency 30
def: "An autosomal recessive, severe mitochondrial disease characterized by lactic acidosis, hypotonia, feeding difficulties, deafness, and respiratory failure with fatal issue. Patient skeletal muscle cells show decreased activities of mitochondrial complexes I, III and IV." []
xref: MedGen:CN236787
xref: MeSH:D028361
xref: MIM:616974 "phenotype"
[Term]
id: DI-04746
name: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
def: "An autosomal dominant syndrome characterized by developmental delay, intellectual disability, brain anomalies, and neurological abnormalities including seizures, hypotonia, and behavioral problems such as autism spectrum disorders. Brain anomalies include abnormalities and/or thinning of the corpus callosum, diminished white matter volume, abnormal cerebellar vermis, and ventriculomegaly. Congenital defects of the eye, heart and genitourinary system are present in half of the patients." []
xref: MedGen:CN236788
xref: MeSH:D000015
xref: MeSH:D065886
xref: MIM:616975 "phenotype"
[Term]
id: DI-04747
name: Intellectual developmental disorder, autosomal dominant 43
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD43 patients manifest developmental delay, intellectual disability, hypotonia, and dysmorphic features." []
xref: MedGen:CN236789
xref: MeSH:D008607
xref: MIM:616977 "phenotype"
[Term]
id: DI-04748
name: Developmental and epileptic encephalopathy 37
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE37 is an autosomal recessive, severe form manifesting in the first years of life. Affected individuals show hyperkinetic movement disorder with choreoathetosis, spasticity, rigidity, intellectual disability, absent speech, and impaired volitional movements." []
synonym: "EIEE37" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 37" [UniProt]
xref: MedGen:CN236795
xref: MeSH:D013036
xref: MIM:616981 "phenotype"
[Term]
id: DI-04749
name: Autoimmune disease, multisystem, infantile-onset, 2
def: "An autosomal recessive, autoimmune disorder characterized by systemic manifestations including blistering skin disease, uncontrollable bullous pemphigoid, inflammatory colitis, autoimmune hypothyroidism, proteinuria and nephrotic syndrome." []
xref: MedGen:CN236826
xref: MeSH:D001327
xref: MIM:617006 "phenotype"
[Term]
id: DI-04750
name: Cerebral palsy, spastic quadriplegic 3
def: "A form of cerebral palsy, a group of non-progressive disorders of movement and/or posture resulting from defects in the developing central nervous system. CPSQ3 is an autosomal recessive neurodevelopmental disorder characterized by variable spasticity and cognitive impairment." []
xref: MedGen:CN236830
xref: MeSH:D002547
xref: MIM:617008 "phenotype"
[Term]
id: DI-04751
name: Polycystic liver disease 2 with or without kidney cysts
def: "An autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. A subset of patients may develop kidney cysts that usually do not result in clinically significant renal disease." []
xref: MedGen:C0158683
xref: MeSH:D003560
xref: MeSH:D008107
xref: MIM:617004 "phenotype"
[Term]
id: DI-04752
name: Bone marrow failure syndrome 3
def: "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS3 is characterized by pancytopenia with onset in early childhood. Some patients have additional variable non-specific features, including poor growth, microcephaly, and skin anomalies. BMFS3 inheritance is autosomal recessive." []
xref: MedGen:CN237815
xref: MeSH:D000080983
xref: MIM:617052 "phenotype"
[Term]
id: DI-04753
name: Hypermanganesemia with dystonia 2
def: "A metabolic autosomal recessive disorder characterized by increased blood manganese levels, neurodegeneration, and rapidly progressive parkinsonism and dystonia. Affected individuals present with loss of developmental milestones, progressive dystonia and bulbar dysfunction in infancy or early childhood. Towards the end of the first decade, they manifest severe generalized pharmacoresistant dystonia, spasticity, limb contractures and scoliosis, and loss of independent ambulation. Cognition may be impaired, but is better preserved than motor function." []
xref: MedGen:CN237172
xref: MeSH:D008659
xref: MIM:617013 "phenotype"
[Term]
id: DI-04754
name: Neutropenia, severe congenital 7, autosomal recessive
def: "A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections." []
xref: MedGen:CN237114
xref: MeSH:D009503
xref: MIM:617014 "phenotype"
[Term]
id: DI-04755
name: Developmental and epileptic encephalopathy 38
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE38 inheritance is autosomal recessive." []
synonym: "EIEE38" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 38" [UniProt]
xref: MedGen:CN237399
xref: MeSH:D013036
xref: MIM:617020 "phenotype"
[Term]
id: DI-04756
name: Retinitis pigmentosa 75
def: "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP75 inheritance is autosomal recessive." []
xref: MedGen:CN237174
xref: MeSH:D012174
xref: MIM:617023 "phenotype"
[Term]
id: DI-04757
name: Night blindness, congenital stationary, 1H
def: "A form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. CSNB1H patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia. CSNB1H inheritance is autosomal recessive." []
xref: MedGen:CN237389
xref: MeSH:D009755
xref: MIM:617024 "phenotype"
[Term]
id: DI-04758
name: Pontocerebellar hypoplasia 2F
def: "A neurodevelopmental disorder characterized by progressive microcephaly, cognitive and motor delay, poor or absent speech, seizures, and spasticity. PCH2F inheritance is autosomal recessive." []
xref: MedGen:CN237391
xref: MeSH:D002526
xref: MIM:617026 "phenotype"
[Term]
id: DI-04759
name: Hyperaldosteronism, familial, 4
def: "A form of familial hyperaldosteronism, a disorder characterized by hypertension, elevated aldosterone levels despite low plasma renin activity, and abnormal adrenal steroid production. There is significant phenotypic heterogeneity, and some individuals never develop hypertension." []
synonym: "FH IV" [UniProt]
synonym: "Hyperaldosteronism, familial, type IV" [UniProt]
synonym: "Primary aldosteronism and hypertension" [UniProt]
xref: MedGen:CN237392
xref: MeSH:D006929
xref: MIM:617027 "phenotype"
[Term]
id: DI-04760
name: Intellectual developmental disorder, autosomal recessive 54
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT54 patients manifest intellectual disability, delayed speech and hyperactivity." []
xref: MedGen:CN237400
xref: MeSH:D008607
xref: MIM:617028 "phenotype"
[Term]
id: DI-04761
name: Myopathy, distal, 5
def: "A form of distal myopathy, a group of muscular disorders characterized by progressive muscular weakness and muscle atrophy beginning in the hands, the legs or the feet. MPD5 is an autosomal recessive form, predominantly affecting the lower limbs." []
xref: MedGen:CN237401
xref: MeSH:D049310
xref: MIM:617030 "phenotype"
[Term]
id: DI-04762
name: Patent ductus arteriosus 2
def: "A congenital heart defect characterized by the persistent opening of fetal ductus arteriosus that fails to close after birth. Fetal ductus arteriosus connects the pulmonary artery to the descending aorta, allowing unoxygenated blood to bypass the lung and flow to the placenta. Normally, the ductus occludes shortly after birth." []
xref: MedGen:CN237398
xref: MeSH:D004374
xref: MIM:617035 "phenotype"
[Term]
id: DI-04763
name: Patent ductus arteriosus 3
def: "A congenital heart defect characterized by the persistent opening of fetal ductus arteriosus that fails to close after birth. Fetal ductus arteriosus connects the pulmonary artery to the descending aorta, allowing unoxygenated blood to bypass the lung and flow to the placenta. Normally, the ductus occludes shortly after birth." []
xref: MedGen:CN237402
xref: MeSH:D004374
xref: MIM:617039 "phenotype"
[Term]
id: DI-04764
name: Duane retraction syndrome 3 with or without deafness
def: "A form of Duane retraction syndrome, a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction or both, narrowing of the palpebral fissure, and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision. Some DURS3 patients manifest sensorineural hearing loss." []
xref: MedGen:CN237403
xref: MeSH:D004370
xref: MIM:617041 "phenotype"
[Term]
id: DI-04765
name: Hydrops, lactic acidosis, and sideroblastic anemia
def: "A lethal, multisystem metabolic disorder characterized by severe lactic acidosis, hydrops, and sideroblastic anemia. Additional features include impaired cardiac function, disordered coagulation, pulmonary hypertension, and progressive renal disease." []
xref: MedGen:CN237417
xref: MeSH:D000756
xref: MeSH:D004487
xref: MeSH:D008659
xref: MIM:617021 "phenotype"
[Term]
id: DI-04766
name: Lethal congenital contracture syndrome 10
def: "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth." []
xref: MedGen:CN237173
xref: MeSH:D001176
xref: MIM:617022 "phenotype"
[Term]
id: DI-04767
name: Nevus comedonicus
def: "A rare type of epidermal nevus characterized by closely arranged, dilated, plugged follicular ostia in a honeycomb pattern. The plugged ostia contain lamellated keratinaceous material, and their appearance resembles black dots. NC may be non-pyogenic with an acne-like appearance or associated with the formation of cysts, papules, pustules, and abscesses. Most commonly it affects the face and neck area and, by exception, other anatomical regions, including genital area, palms, and soles. NC lesions might present with various patterns of distribution: unilateral, bilateral, linear, interrupted, segmental, or blaschkoid." []
xref: MedGen:C0265987
xref: MeSH:D009506
xref: MIM:617025 "phenotype"
[Term]
id: DI-04768
name: Arthrogryposis, Perthes disease, and upward gaze palsy
def: "An autosomal recessive, syndromic form of arthrogryposis, a disease characterized by persistent joints flexure or contracture. APUG patients manifest an unusual combination of arthrogryposis, upward gaze palsy, and avascular necrosis of the hip (Perthes disease)." []
xref: MedGen:C3280309
xref: MeSH:D001176
xref: MeSH:D007873
xref: MeSH:D015835
xref: MIM:614262 "phenotype"
[Term]
id: DI-04769
name: Short stature, developmental delay, and congenital heart defects
def: "An autosomal recessive syndrome characterized by short stature, developmental delay, intellectual disability and congenital heart defects including ventricular septal defect, atrial septal defect and patent foramen ovale. Cataract and uveitis are observed in some patients." []
synonym: "TKT deficiency" [UniProt]
synonym: "Transketolase deficiency" [UniProt]
xref: MedGen:CN237416
xref: MeSH:D004392
xref: MeSH:D006330
xref: MeSH:D065886
xref: MIM:617044 "phenotype"
[Term]
id: DI-04770
name: Spastic paraplegia 77, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body." []
xref: MedGen:CN237808
xref: MeSH:D015419
xref: MIM:617046 "phenotype"
[Term]
id: DI-04771
name: Cardiomyopathy, familial hypertrophic, 26
def: "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death." []
xref: MedGen:CN237810
xref: MeSH:D024741
xref: MIM:617047 "phenotype"
[Term]
id: DI-04772
name: Cardiomyopathy, familial restrictive 5
def: "A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function." []
xref: MedGen:CN237821
xref: MeSH:D002313
xref: MIM:617047 "phenotype"
[Term]
id: DI-04773
name: Macrocephaly, dysmorphic facies, and psychomotor retardation
def: "An autosomal recessive syndrome characterized by large head and somatic overgrowth, intellectual disability, and facial dysmorphism. Seizures, hypotonia and ataxic gait are observed in some patients." []
xref: MedGen:CN237397
xref: MeSH:D006130
xref: MeSH:D008607
xref: MeSH:D019465
xref: MIM:617011 "phenotype"
[Term]
id: DI-04774
name: Cholestasis, progressive familial intrahepatic, 5
def: "A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC5 is an autosomal recessive, severe form characterized by onset of intralobular cholestasis in the neonatal period." []
xref: MedGen:CN237812
xref: MeSH:D002780
xref: MIM:617049 "phenotype"
[Term]
id: DI-04775
name: Hermansky-Pudlak syndrome 10
def: "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS10 patients manifest albinism, neutropenia, immunodeficiency, neurodevelopmental delay, generalized seizures, and impaired hearing." []
xref: MedGen:CN230106
xref: MeSH:D022861
xref: MIM:617050 "phenotype"
[Term]
id: DI-04776
name: Neurodevelopmental disorder with microcephaly and gray sclerae
def: "An autosomal recessive disorder characterized by global developmental delay, hypotonia, profoundly impaired intellectual development with poor or absent language, mild microcephaly, abnormal visual fixation, and seizures in most patients. Affected individuals also have gray sclerae." []
synonym: "MRT55" [UniProt]
xref: MedGen:CN237814
xref: MeSH:D008607
xref: MIM:617051 "phenotype"
[Term]
id: DI-04777
name: MIRAGE syndrome
def: "A form of syndromic adrenal hypoplasia characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy." []
synonym: "Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy" [UniProt]
xref: MedGen:CN237816
xref: MeSH:D000309
xref: MeSH:D001855
xref: MeSH:D006130
xref: MIM:617053 "phenotype"
[Term]
id: DI-04778
name: Striatonigral degeneration, childhood-onset
def: "An autosomal recessive neurological disorder characterized by sudden childhood onset of developmental regression. Affected children develop impaired movements with dystonia, progressively become non-ambulatory and non-verbal, and exhibit striatal abnormalities on MRI." []
synonym: "Lenk-Ploski syndrome" [UniProt]
xref: MedGen:CN237817
xref: MeSH:D020955
xref: MIM:617054 "phenotype"
[Term]
id: DI-04779
name: Perching syndrome
def: "An autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic facial features, feeding and respiratory difficulties with poor overall growth, axial hypotonia, and joint contractures. The features are variable, even within families, and may also include retinitis pigmentosa, cardiac or genitourinary anomalies, and abnormal sweating." []
synonym: "CISS3" [UniProt]
synonym: "Crisponi/Cold-induced sweating syndrome 3" [UniProt]
xref: MedGen:CN237811
xref: MeSH:D000015
xref: MeSH:D006945
xref: MIM:617055 "phenotype"
[Term]
id: DI-04780
name: Tubulointerstitial kidney disease, autosomal dominant, 5
def: "A form of autosomal dominant tubulointerstitial kidney disease, a genetically heterogeneous disorder characterized by slowly progressive loss of kidney function, bland urinary sediment, hyperuricemia, absent or mildly increased albuminuria, lack of severe hypertension during the early stages, and normal or small kidneys on ultrasound. Renal histology shows variable abnormalities including interstitial fibrosis with tubular atrophy, microcystic dilatation of the tubules, thickening of tubular basement membranes, medullary cysts, and secondary glomerulosclerotic or glomerulocystic changes with abnormal glomerular tufting. There is significant variability, as well as incomplete penetrance." []
synonym: "Familial juvenile hyperuricemic nephropathy 4" [UniProt]
synonym: "HNFJ4" [UniProt]
synonym: "Hyperuricemic nephropathy, familial juvenile, 4" [UniProt]
xref: MedGen:CN237813
xref: MeSH:D007674
xref: MIM:617056 "phenotype"
[Term]
id: DI-04781
name: Ataxia-pancytopenia syndrome
def: "An autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia." []
synonym: "Myelocerebellar disorder" [UniProt]
xref: MedGen:C1327919
xref: MeSH:D002524
xref: MeSH:D010198
xref: MIM:159550 "phenotype"
[Term]
id: DI-04782
name: Nephrolithiasis, calcium oxalate, 1
def: "A form of nephrolithiasis, a condition in which urinary supersaturation leads to stone formation in the urinary system. Patients manifest acute renal colic with severe pain originating in the flank. Patients with small, non-obstructing stones or those with staghorn calculi may be asymptomatic. The majority of renal calculi contain calcium. CAON1 is characterized by calcium oxalate kidney stones." []
synonym: "Calcium oxalate urolithiasis" [UniProt]
synonym: "Kidney stones" [UniProt]
synonym: "Urolithiasis, calcium oxalate" [UniProt]
xref: MedGen:C1833683
xref: MeSH:D053040
xref: MIM:167030 "phenotype"
[Term]
id: DI-04783
name: Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency
def: "An autosomal recessive, inborn error of metabolism characterized by variable mitochondrial dysfunction. Clinical features range from severe cardiac and respiratory insufficiency with onset in infancy and resulting in early death, to mild muscle weakness with onset in adulthood. Some patients show significant improvement with riboflavin treatment. Analysis of skeletal muscle show multiple mitochondrial respiratory chain deficiency and a lipid storage myopathy in most patients." []
synonym: "Lipid storage myopathy due to FLAD1 deficiency" [UniProt]
xref: MedGen:CN032199
xref: MeSH:D009136
xref: MIM:255100 "phenotype"
[Term]
id: DI-04784
name: PEHO syndrome
def: "An autosomal recessive syndrome characterized by progressive encephalopathy, lack of psychomotor development, severe intellectual disability, early onset epileptic seizures, optic nerve/cerebellar atrophy, pedal edema, and early death." []
synonym: "Infantile cerebellooptic atrophy" [UniProt]
synonym: "Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy" [UniProt]
xref: MedGen:C1850055
xref: MeSH:D001929
xref: MeSH:D009896
xref: MeSH:D013036
xref: MeSH:D019636
xref: MIM:260565 "phenotype"
[Term]
id: DI-04785
name: Pyle disease
def: "A disorder characterized by cortical-bone thinning, limb deformity, bone fragility and fractures." []
synonym: "Metaphyseal dysplasia, Pyle type" [UniProt]
xref: MedGen:C0265294
xref: MeSH:D010009
xref: MIM:265900 "phenotype"
[Term]
id: DI-04786
name: Spondyloepimetaphyseal dysplasia, X-linked
def: "An X-linked recessive bone disease characterized by severe short-trunk dwarfism, brachydactyly, metaphyseal flaring of lower extremities, short and broad long bone diaphyses, moderate platyspondyly, normal facies, and normal intelligence." []
synonym: "SEMD, X-linked" [UniProt]
xref: MedGen:C1848097
xref: MeSH:D010009
xref: MIM:300106 "phenotype"
[Term]
id: DI-04787
name: Camptosynpolydactyly, complex
def: "An autosomal recessive disorder characterized by hand and foot deformities consisting of polydactyly with digits arising from the dorsum of hands, syn- and camptodactyly of some fingers, soft tissue syndactyly of first and second toes, and dysplastic nails." []
synonym: "Camptopolydactyly, disorganization type" [UniProt]
xref: MedGen:C1843758
xref: MeSH:D005532
xref: MeSH:D006228
xref: MIM:607539 "phenotype"
[Term]
id: DI-04788
name: Pigmentary disorder, reticulate, with systemic manifestations, X-linked
def: "An X-linked recessive disorder characterized by recurrent infections and sterile inflammation in various organs. Diffuse skin hyperpigmentation with a distinctive reticulate pattern is universally evident by early childhood. This is later followed in many patients by hypohidrosis, corneal inflammation and scarring, enterocolitis that resembles inflammatory bowel disease, and recurrent urethral strictures. Melanin and amyloid deposition is present in the dermis. Affected males also have a characteristic facies with frontally upswept hair and flared eyebrows. Female carriers have only restricted pigmentary changes along Blaschko's lines." []
synonym: "XLPDR" [UniProt]
xref: MedGen:C1845050
xref: MeSH:D000686
xref: MeSH:D010859
xref: MIM:301220 "phenotype"
[Term]
id: DI-04789
name: Polycystic kidney disease 3 with or without polycystic liver disease
def: "A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occur in other organs, particularly the liver. PKD3 inheritance is autosomal dominant." []
synonym: "APKD3" [UniProt]
synonym: "Polycystic kidney disease, adult, type III" [UniProt]
xref: MedGen:C1418603
xref: MedGen:C3887964
xref: MeSH:D007690
xref: MIM:600666 "phenotype"
[Term]
id: DI-04790
name: Curry-Jones syndrome
def: "A multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas." []
synonym: "Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development" [UniProt]
synonym: "Curry Jones syndrome" [UniProt]
xref: MedGen:C0795915
xref: MeSH:D004065
xref: MeSH:D012868
xref: MeSH:D013576
xref: MeSH:D019465
xref: MIM:601707 "phenotype"
[Term]
id: DI-04791
name: Autoinflammation, panniculitis, and dermatosis syndrome
def: "An autosomal recessive autoinflammatory disorder characterized by neonatal-onset of fever, neutrophilic dermatitis, panniculitis, painful joints, failure to thrive. Patients do not exhibit overt primary immunodeficiency." []
synonym: "ORAS" [UniProt]
synonym: "Otulin-related autoinflammatory syndrome" [UniProt]
synonym: "Otulipenia" [UniProt]
xref: MedGen:CN238359
xref: MeSH:D003872
xref: MeSH:D015434
xref: MeSH:D056660
xref: MIM:617099 "phenotype"
[Term]
id: DI-04792
name: Short-rib thoracic dysplasia 15 with polydactyly
def: "A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome." []
xref: MedGen:CN238092
xref: MeSH:D012779
xref: MIM:617088 "phenotype"
[Term]
id: DI-04793
name: Developmental and epileptic encephalopathy 40
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE40 inheritance is autosomal recessive." []
synonym: "EIEE40" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 40" [UniProt]
xref: MedGen:CN237799
xref: MeSH:D013036
xref: MIM:617065 "phenotype"
[Term]
id: DI-04794
name: Short-rib thoracic dysplasia 16 with or without polydactyly
def: "A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome." []
xref: MedGen:CN238098
xref: MeSH:D012779
xref: MIM:617102 "phenotype"
[Term]
id: DI-04795
name: Tonne-Kalscheuer syndrome
def: "An X-linked recessive disorder characterized by global developmental delay apparent from early infancy, impaired intellectual development, speech delay, behavioral abnormalities, abnormal gait, dysmorphic facial features, limb anomalies, and urogenital abnormalities with hypogenitalism. A subset of more severely affected males develop congenital diaphragmatic hernia in utero, which may result in perinatal or premature death. Carrier females may have very mild skeletal or hormonal abnormalities." []
synonym: "MRX61" [UniProt]
xref: MedGen:CN237806
xref: MeSH:D038901
xref: MIM:300978 "phenotype"
[Term]
id: DI-04796
name: Spinocerebellar ataxia 43
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA43 is a slowly progressive, autosomal dominant form." []
xref: MedGen:CN238088
xref: MeSH:D020754
xref: MIM:617018 "phenotype"
[Term]
id: DI-04797
name: Meier-Gorlin syndrome 7
def: "A form of Meier-Gorlin syndrome, a syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. MGORS7 inheritance is autosomal recessive." []
xref: MedGen:CN237807
xref: MeSH:D006130
xref: MeSH:D008844
xref: MIM:617063 "phenotype"
[Term]
id: DI-04798
name: Intellectual developmental disorder, autosomal dominant 44, with microcephaly
def: "A disorder characterized by developmental delay, variable intellectual disability, distinctive facial features, and abnormalities of the fingers. Most patients also have microcephaly." []
xref: MedGen:CN237804
xref: MeSH:D008607
xref: MIM:617061 "phenotype"
[Term]
id: DI-04799
name: Okur-Chung neurodevelopmental syndrome
def: "An autosomal dominant neurodevelopmental disorder characterized by developmental delay, intellectual disability, behavioral problems, hypotonia, speech problems, microcephaly, pachygyria and variable dysmorphic features." []
xref: MedGen:CN237805
xref: MeSH:D065886
xref: MIM:617062 "phenotype"
[Term]
id: DI-04800
name: Muscular dystrophy, congenital, Davignon-Chauveau type
def: "An autosomal recessive, severe congenital muscular dystrophy characterized by neonatal onset of muscle weakness predominantly involving axial muscles, life-threatening respiratory failure, skin abnormalities and joint hyperlaxity without contractures. Muscle biopsies show multi-minicores, caps and dystrophic lesions." []
xref: MedGen:CN237803
xref: MeSH:D009136
xref: MIM:617066 "phenotype"
[Term]
id: DI-04801
name: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
def: "A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB3 patients manifest adult-onset progressive external ophthalmoplegia and progressive proximal muscle weakness associated with muscle atrophy." []
synonym: "Progressive external ophthalmoplegia, autosomal recessive 3" [UniProt]
xref: MedGen:CN237801
xref: MeSH:D017246
xref: MIM:617069 "phenotype"
[Term]
id: DI-04802
name: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
def: "A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB4 patients manifest clinically variable features including mitochondrial myopathy with or without progressive external ophthalmoplegia, recurrent rhabdomyolysis, and adult-onset lower motor neuron syndrome with mild cognitive impairment." []
synonym: "Progressive external ophthalmoplegia, autosomal recessive 4" [UniProt]
xref: MedGen:CN237802
xref: MeSH:D017246
xref: MIM:617070 "phenotype"
[Term]
id: DI-04803
name: Portal hypertension, non-cirrhotic, 1
def: "An autosomal recessive disorder characterized by portal hypertension associated with hepatosplenomegaly, in absence of cirrhosis, extrahepatic diseases, and splanchnic venous thrombosis. Portal hypertension is defined by a portal venous system pressure that is at least 5 mm Hg higher than the pressure in the inferior vena cava. High pressure in the portal venous system leads to shunting of blood through vessels that are poorly suited to carrying large blood volumes, resulting in collateral circulation and splenomegaly. NCPH1 patients show normal liver function." []
synonym: "Portal hypertension, noncirrhotic" [UniProt]
xref: MedGen:CN237800
xref: MeSH:D006975
xref: MIM:617068 "phenotype"
[Term]
id: DI-04804
name: Myopathy, autosomal recessive, with rigid spine and distal joint contractures
def: "An autosomal recessive degenerative myopathy characterized by muscle weakness initially involving the proximal lower limbs, followed by distal upper and lower limb muscle weakness and atrophy. Other features include joint contractures, rigid spine, and restricted pulmonary function. Cardiac involvement has been observed in some patients. Disease onset is in the first or second decades of life." []
synonym: "LGMD2Y" [UniProt]
synonym: "Limb-girdle muscular dystrophy 2Y" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 2Y" [UniProt]
xref: MedGen:CN237798
xref: MeSH:D049288
xref: MIM:617072 "phenotype"
[Term]
id: DI-04805
name: Tooth agenesis, selective, 8
def: "A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). STHAG8 inheritance is autosomal dominant." []
synonym: "Selective tooth agenesis 8" [UniProt]
xref: MedGen:CN237797
xref: MeSH:D000848
xref: MIM:617073 "phenotype"
[Term]
id: DI-04806
name: Nasopharyngeal carcinoma, 3
def: "A form of nasopharyngeal carcinoma, a malignant neoplasm that originates in the nasopharyngeal epithelium and includes 4 subtypes: keratinizing squamous cell, non-keratinizing, basaloid squamous cell, and papillary adenocarcinoma." []
xref: MedGen:CN237822
xref: MeSH:D009303
xref: MIM:617075 "phenotype"
[Term]
id: DI-04807
name: Seizures, benign familial infantile, 5
def: "A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS5 inheritance is autosomal dominant." []
synonym: "Benign familial infantile convulsions 5" [UniProt]
xref: MedGen:CN238089
xref: MeSH:D020936
xref: MIM:617080 "phenotype"
[Term]
id: DI-04808
name: Raynaud-Claes syndrome
def: "An X-linked syndrome characterized by borderline to severe intellectual disability and impaired language development. Additional features include behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms." []
synonym: "MRX49" [UniProt]
xref: MedGen:C3887959
xref: MedGen:CN031541
xref: MeSH:D038901
xref: MIM:300114 "phenotype"
[Term]
id: DI-04809
name: Congenital disorder of glycosylation 1AA
def: "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1AA inheritance is autosomal recessive." []
synonym: "Congenital disorder of glycosylation, type 1aa" [UniProt]
xref: MedGen:CN238090
xref: MeSH:D018981
xref: MIM:617082 "phenotype"
[Term]
id: DI-04810
name: Encephalopathy due to defective mitochondrial and peroxisomal fission 2
def: "An autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. More variable features include early-onset seizures, optic atrophy, and peripheral neuropathy." []
xref: MedGen:CN238093
xref: MeSH:D000015
xref: MIM:617086 "phenotype"
[Term]
id: DI-04811
name: Charcot-Marie-Tooth disease, axonal, 2A2B
def: "An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2A2B is a severe form with autosomal recessive inheritance." []
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B" [UniProt]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2A2B" [UniProt]
xref: MedGen:CN238096
xref: MeSH:D002607
xref: MeSH:D015417
xref: MIM:617087 "phenotype"
[Term]
id: DI-04812
name: Intellectual developmental disorder with persistence of fetal hemoglobin
def: "An autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin." []
synonym: "Dias-Logan syndrome" [UniProt]
synonym: "Intellectual developmental disorder with hereditary persistence of fetal hemoglobin" [UniProt]
xref: MedGen:CN238097
xref: MeSH:D065886
xref: MIM:617101 "phenotype"
[Term]
id: DI-04813
name: Parkinson disease 19B, early-onset
def: "An early-onset form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK19B is characterized by symptoms onset in the third-to-fifth decade, slow disease progression, and prominent. response to dopaminergic therapies. Inheritance is autosomal recessive." []
xref: MedGen:C3809811
xref: MedGen:CN181757
xref: MeSH:D010300
xref: MIM:615528 "phenotype"
[Term]
id: DI-04814
name: Intellectual developmental disorder, X-linked 103
def: "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations." []
synonym: "MRX103" [UniProt]
xref: MedGen:CN238512
xref: MeSH:D038901
xref: MIM:300982 "phenotype"
[Term]
id: DI-04815
name: Intellectual developmental disorder, X-linked 104
def: "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations." []
synonym: "MRX104" [UniProt]
xref: MedGen:CN238519
xref: MeSH:D038901
xref: MIM:300983 "phenotype"
[Term]
id: DI-04816
name: Intellectual developmental disorder, X-linked 105
def: "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations." []
synonym: "MRX105" [UniProt]
xref: MedGen:CN238520
xref: MeSH:D038901
xref: MIM:300984 "phenotype"
[Term]
id: DI-04817
name: Congenital bilateral aplasia of the vas deferens, X-linked
def: "A disease characterized by bilateral absence of vas deferens, obstructive azoospermia, and infertility." []
xref: MedGen:CN238523
xref: MeSH:D052801
xref: MIM:300985 "phenotype"
[Term]
id: DI-04818
name: Macular dystrophy, patterned, 3
def: "A form of retinal patterned dystrophy, characterized by retinal pigment epithelium and Bruch's membrane changes resembling a 'dry desert land'. It begins around the age of 30 and progresses to retinitis pigmentosa. MDPT3 inheritance is autosomal dominant." []
synonym: "Martinique crinkled retinal pigment epitheliopathy" [UniProt]
xref: MedGen:CN238481
xref: MeSH:D058499
xref: MIM:617111 "phenotype"
[Term]
id: DI-04819
name: Joubert syndrome 27
def: "A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS27 inheritance is autosomal recessive." []
xref: MedGen:CN238517
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:617120 "phenotype"
[Term]
id: DI-04820
name: Joubert syndrome 28
def: "A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS28 inheritance is autosomal recessive." []
xref: MedGen:CN238518
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:617121 "phenotype"
[Term]
id: DI-04821
name: Microcephaly 17, primary, autosomal recessive
def: "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH17 is a severe form characterized by lissencephaly, enlarged ventricles, agenesis of the corpus callosum, cerebellar hypoplasia, and brainstem hypoplasia. Patients manifest delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features." []
xref: MedGen:CN238477
xref: MeSH:D008831
xref: MIM:617090 "phenotype"
[Term]
id: DI-04822
name: Ciliary dyskinesia, primary, 34
def: "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD34 inheritance is autosomal recessive." []
xref: MedGen:CN238099
xref: MeSH:D007619
xref: MIM:617091 "phenotype"
[Term]
id: DI-04823
name: Intellectual developmental disorder, autosomal recessive 56
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:CN238502
xref: MeSH:D008607
xref: MIM:617125 "phenotype"
[Term]
id: DI-04824
name: Retinitis pigmentosa 76
def: "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP76 inheritance is autosomal recessive." []
xref: MedGen:CN238501
xref: MeSH:D012174
xref: MIM:617123 "phenotype"
[Term]
id: DI-04825
name: Alazami-Yuan syndrome
def: "An autosomal recessive syndrome reminiscent of Cornelia de Lange syndrome and characterized by delayed psychomotor development with intellectual disability, hypotonia, microcephaly, short stature, poor speech, and dysmorphic features." []
xref: MedGen:CN238513
xref: MeSH:D000015
xref: MeSH:D008607
xref: MIM:617126 "phenotype"
[Term]
id: DI-04826
name: Orofaciodigital syndrome 15
def: "A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD15 features include facial dysmorphism, lobulated tongue, clefting of the alveolar ridges, left hand postaxial polydactyly, broad right hallux and left hallux duplication, and intermittent respiratory difficulty. Brain anomalies include vermis hypoplasia with molar tooth sign, agenesis of corpus callosum, and ventricular dilation. OFD15 inheritance is autosomal recessive." []
synonym: "OFDS XV" [UniProt]
synonym: "Oro-facio-digital syndrome, XV" [UniProt]
synonym: "Orofaciodigital syndrome XV" [UniProt]
xref: MedGen:CN238514
xref: MeSH:D009958
xref: MIM:617127 "phenotype"
[Term]
id: DI-04827
name: Ciliary dyskinesia, primary, 35
def: "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left- right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD35 inheritance is autosomal recessive." []
synonym: "Ciliary dyskinesia, primary, 35 with or without situs inversus" [UniProt]
synonym: "Primary ciliary dyskinesia 35 with or without situs inversus" [UniProt]
xref: MedGen:CN238358
xref: MeSH:D007619
xref: MIM:617092 "phenotype"
[Term]
id: DI-04828
name: Vascular malformation, primary intraosseous
def: "An autosomal recessive, rare malformation characterized by non- neoplastic severe expansions of blood vessels, usually seen in the vertebral column and in the skull. The most commonly affected bones in the skull are the mandible and the maxilla, and life-threatening bleeding after a simple tooth extraction is frequently observed." []
synonym: "Hemangioma, intraosseous" [UniProt]
synonym: "Vascular malformation osseous" [UniProt]
synonym: "VMOS" [UniProt]
xref: MedGen:C1847197
xref: MeSH:D054079
xref: MIM:606893 "phenotype"
[Term]
id: DI-04829
name: Band heterotopia
def: "A brain malformation of the lissencephaly spectrum, resulting from disordered neuronal migration and characterized by bands of gray matter interposed in the central white matter. Disease features include severe developmental delay with intellectual disability, enlarged head circumference, periventricular and ribbon-like subcortical heterotopia, polymicrogyria and agenesis of the corpus callosum." []
synonym: "Band heterotopia of brain" [UniProt]
xref: MedGen:C1838239
xref: MeSH:D054221
xref: MIM:600348 "phenotype"
[Term]
id: DI-04830
name: Bardet-Biedl syndrome 22
def: "A form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease." []
xref: MedGen:CN238500
xref: MeSH:D020788
xref: MIM:617119 "phenotype"
[Term]
id: DI-04831
name: Epilepsy, familial focal, with variable foci 3
def: "An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy, frontal lobe epilepsy, and nocturnal frontal lobe epilepsy. Some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. A subset of patients have structural brain abnormalities. Penetrance of the disorder is incomplete." []
xref: MedGen:CN238509
xref: MeSH:D004828
xref: MIM:617118 "phenotype"
[Term]
id: DI-04832
name: Epilepsy, familial focal, with variable foci 2
def: "An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy, frontal lobe epilepsy, and nocturnal frontal lobe epilepsy. Some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. A subset of patients have structural brain abnormalities. Penetrance of the disorder is incomplete." []
xref: MedGen:CN238508
xref: MeSH:D004828
xref: MIM:617116 "phenotype"
[Term]
id: DI-04833
name: Peeling skin syndrome 5
def: "A form of peeling skin syndrome, a genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non- inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. PSS5 patients manifest hyperkeratosis and superficial peeling of areas of the palmar and dorsal faces of hands and feet. Additional variable features include erythema, superficial scaling of forearms and legs and diffuse yellowish hyperkeratotic palmoplantar plaques. PSS5 inheritance is autosomal recessive." []
xref: MedGen:CN238490
xref: MeSH:D003873
xref: MIM:617115 "phenotype"
[Term]
id: DI-04834
name: Myopathy, myofibrillar, 7
def: "A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM7 is an autosomal recessive form, clinically characterized by early childhood onset of slowly progressive muscle weakness and mild atrophy primarily affecting the lower limbs, associated with joint contractures." []
xref: MedGen:CN238489
xref: MeSH:D020914
xref: MIM:617114 "phenotype"
[Term]
id: DI-04835
name: Developmental and epileptic encephalopathy 43
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE43 inheritance is autosomal dominant." []
synonym: "EIEE43" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 43" [UniProt]
xref: MedGen:CN238499
xref: MeSH:D013036
xref: MIM:617113 "phenotype"
[Term]
id: DI-04836
name: Developmental and epileptic encephalopathy 42
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE42 inheritance is autosomal dominant." []
synonym: "EIEE42" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 42" [UniProt]
xref: MedGen:CN238498
xref: MeSH:D013036
xref: MIM:617106 "phenotype"
[Term]
id: DI-04837
name: Developmental and epileptic encephalopathy 41
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE41 inheritance is autosomal dominant." []
synonym: "EIEE41" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 41" [UniProt]
xref: MedGen:CN238497
xref: MeSH:D013036
xref: MIM:617105 "phenotype"
[Term]
id: DI-04838
name: Sessile serrated polyposis cancer syndrome
def: "A rare disease characterized by multiple and/or large serrated polyps developing in the colon, and an increased personal and familial risk of colorectal cancer. A patient is diagnosed with SSPCS if at least one of the following criteria is met: the presence of at least five sessile serrated polyps proximal to the sigmoid colon, two of which are greater than 10 mm in diameter; the presence of any number of serrated polyps occurring proximal to the sigmoid colon in an individual who has a first-degree relative with serrated polyposis; the presence of more than 20 serrated polyps of any size distributed throughout the colon. Sessile serrated polyps are also known as sessile serrated adenomas (SSA) and are estimated to be responsible for 20 to 35% of all colon cancers. Individuals with SSPCS may have a strong personal or family history of extracolonic cancers." []
xref: MedGen:CN238478
xref: MeSH:D003110
xref: MIM:617108 "phenotype"
[Term]
id: DI-04839
name: Thauvin-Robinet-Faivre syndrome
def: "A rare autosomal recessive syndrome characterized by generalized overgrowth, developmental delay, learning disabilities, and variable congenital abnormalities including congenital heart defects, renal dysplasia, and skeletal defects." []
xref: MedGen:CN238496
xref: MeSH:D000015
xref: MeSH:D001848
xref: MIM:617107 "phenotype"
[Term]
id: DI-04840
name: Familial adenomatous polyposis 4
def: "A form of familial adenomatous polyposis, a condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma. FAP4 inheritance is autosomal recessive." []
xref: MedGen:CN238101
xref: MeSH:D018256
xref: MIM:617100 "phenotype"
[Term]
id: DI-04841
name: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
def: "An autosomal recessive disorder characterized by severe growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and hepatic dysfunction." []
xref: MedGen:CN238100
xref: MeSH:D006130
xref: MeSH:D008107
xref: MeSH:D008607
xref: MeSH:D009123
xref: MIM:617093 "phenotype"
[Term]
id: DI-04842
name: Aortic aneurysm, familial thoracic 10
def: "A form of thoracic aortic aneurysm, a disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance." []
synonym: "Aortic aneurysm, thoracic, with or without aortic dissection" [UniProt]
xref: MedGen:CN238824
xref: MeSH:D017545
xref: MIM:617168 "phenotype"
[Term]
id: DI-04843
name: Developmental and epileptic encephalopathy 44
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE44 transmission pattern is consistent with autosomal recessive inheritance." []
synonym: "EIEE44" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 44" [UniProt]
xref: MedGen:CN238683
xref: MeSH:D013036
xref: MIM:617132 "phenotype"
[Term]
id: DI-04844
name: Developmental and epileptic encephalopathy 45
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent." []
synonym: "EIEE45" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 45" [UniProt]
xref: MedGen:CN238694
xref: MeSH:D013036
xref: MIM:617153 "phenotype"
[Term]
id: DI-04845
name: Developmental and epileptic encephalopathy 46
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent." []
synonym: "EIEE46" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 46" [UniProt]
xref: MedGen:CN238793
xref: MeSH:D013036
xref: MIM:617162 "phenotype"
[Term]
id: DI-04846
name: Developmental and epileptic encephalopathy 47
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent." []
synonym: "EIEE47" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 47" [UniProt]
xref: MedGen:CN238825
xref: MeSH:D013036
xref: MIM:617166 "phenotype"
[Term]
id: DI-04847
name: Spinocerebellar ataxia, autosomal recessive, 24
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR24 patients manifest gait instability and speech difficulties with onset in childhood. Clinical features include gait and limb ataxia, dysarthria, nystagmus, cataracts, and cerebellar atrophy on brain imaging." []
xref: MedGen:CN238684
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:617133 "phenotype"
[Term]
id: DI-04848
name: Ehlers-Danlos syndrome, periodontal type, 1
def: "A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSPD1 is characterized by the association of typical features of Ehlers-Danlos syndrome with gingival recession and severe early-onset periodontal disease, leading to premature loss of permanent teeth. EDSPD1 inheritance is autosomal dominant." []
synonym: "EDS VIII" [UniProt]
synonym: "EDS8" [UniProt]
synonym: "Ehlers-Danlos syndrome, periodontitis type" [UniProt]
synonym: "Ehlers-Danlos syndrome, periodontosis type" [UniProt]
synonym: "Ehlers-Danlos syndrome, type VIII" [UniProt]
xref: MedGen:C0268347
xref: MeSH:D004535
xref: MIM:130080 "phenotype"
[Term]
id: DI-04849
name: Ehlers-Danlos syndrome, periodontal type, 2
def: "A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSPD2 is characterized by the association of typical features of Ehlers-Danlos syndrome with gingival recession and severe early-onset periodontal disease, leading to premature loss of permanent teeth. EDSPD2 transmission pattern is consistent with autosomal dominant inheritance." []
xref: MedGen:CN238849
xref: MeSH:D004535
xref: MIM:617174 "phenotype"
[Term]
id: DI-04850
name: Intellectual developmental disorder, X-linked, syndromic, Bain type
def: "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSB patients manifest developmental delay, intellectual disability, autism, hypotonia, seizures, and dysmorphic facial features. Only females are affected." []
xref: MedGen:CN238685
xref: MeSH:D038901
xref: MIM:300986 "phenotype"
[Term]
id: DI-04852
name: Frontometaphyseal dysplasia 2
def: "A form of frontometaphyseal dysplasia, a progressive sclerosing skeletal dysplasia affecting the long bones and skull. Characteristic features include supraorbital hyperostosis, cranial hyperostosis, undermodeling of the small bones, flared metaphyses, and digital anomalies. Extra-skeletal manifestations include hearing loss, cardiac malformations, and stenosis, particularly of the upper airway and urinary tract. FMD2 inheritance is autosomal dominant." []
xref: MedGen:CN238524
xref: MeSH:D010009
xref: MIM:617137 "phenotype"
[Term]
id: DI-04853
name: Cardiospondylocarpofacial syndrome
def: "A syndrome characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion and extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations. CSCF transmission pattern is consistent with autosomal dominant inheritance." []
synonym: "Forney Robinson Pascoe syndrome" [UniProt]
synonym: "Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones" [UniProt]
xref: MedGen:C1834818
xref: MeSH:D006312
xref: MeSH:D006349
xref: MeSH:D010026
xref: MIM:157800 "phenotype"
[Term]
id: DI-04854
name: Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures
def: "An autosomal recessive disorder characterized by psychomotor delay, epilepsy, intellectual disability, speech impairment and dyskinesia of the limbs. Patients also manifest autistic features and other behavioral abnormalities." []
synonym: "DYSEIDD" [UniProt]
synonym: "Dyskinesia, seizures, and intellectual developmental disorder" [UniProt]
xref: MedGen:CN238846
xref: MeSH:D008607
xref: MeSH:D012640
xref: MeSH:D020820
xref: MIM:617171 "phenotype"
[Term]
id: DI-04855
name: Intellectual developmental disorder, autosomal recessive 74
def: "A disorder characterized by intellectual impairment, macrocephaly, and dysmorphic features. Epilepsy with eyelid myoclonus has also been reported." []
synonym: "Sotos syndrome 3" [UniProt]
synonym: "SOTOS3" [UniProt]
xref: MedGen:CN238798
xref: MeSH:D008607
xref: MIM:617169 "phenotype"
[Term]
id: DI-04856
name: Short stature-micrognathia syndrome
def: "An autosomal dominant disorder characterized by facial dysmorphism, severe micrognathia, microcephaly, rhizomelic short stature, and mild developmental delay." []
synonym: "Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay" [UniProt]
synonym: "SRMMD" [UniProt]
xref: MedGen:CN238794
xref: MeSH:D002658
xref: MeSH:D004392
xref: MeSH:D019465
xref: MIM:617164 "phenotype"
[Term]
id: DI-04857
name: Sifrim-Hitz-Weiss syndrome
def: "An autosomal dominant syndrome characterized by intellectual disability, variable congenital defects affecting cardiac, skeletal, and urogenital systems. Short stature, macrocephaly, hearing impairment, and facial dysmorphism are present in some patients." []
xref: MedGen:CN238765
xref: MeSH:D000015
xref: MIM:617159 "phenotype"
[Term]
id: DI-04858
name: Aniridia 2
def: "A form of aniridia, a congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time." []
xref: MedGen:C0344543
xref: MeSH:D015783
xref: MIM:617141 "phenotype"
[Term]
id: DI-04859
name: Aniridia 3
def: "A form of aniridia, a congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time." []
xref: MedGen:CN238677
xref: MeSH:D015783
xref: MIM:617142 "phenotype"
[Term]
id: DI-04860
name: ZTTK syndrome
def: "An autosomal dominant syndrome characterized by intellectual disability, developmental delay, malformations of the cerebral cortex, epilepsy, vision problems, musculo-skeletal abnormalities, and congenital malformations." []
synonym: "Zhu-Tokita-Takenouchi-Kim syndrome" [UniProt]
xref: MedGen:CN238690
xref: MeSH:D000015
xref: MeSH:D008607
xref: MIM:617140 "phenotype"
[Term]
id: DI-04861
name: Myasthenic syndrome, congenital, 20, presynaptic
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS20 is an autosomal recessive, pre-synaptic form characterized by severe hypotonia and episodic apnea soon after birth, generalized limb fatigability and weakness, delayed walking, ptosis, poor sucking and swallowing." []
xref: MedGen:CN238686
xref: MeSH:D020294
xref: MIM:617143 "phenotype"
[Term]
id: DI-04862
name: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
def: "A neurodegenerative disorder characterized by gait abnormalities, ataxia, dysarthria, dystonia, vertical gaze palsy, and cognitive decline. Disease onset is in childhood or adolescence. NADGP transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN238691
xref: MeSH:D020271
xref: MIM:617145 "phenotype"
[Term]
id: DI-04863
name: Arthrogryposis, distal, with impaired proprioception and touch
def: "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DAIPT is an autosomal recessive disease characterized by selective loss of discriminative touch perception, ataxia, difficulty walking, dysmetria, and progressive skeletal contractures." []
xref: MedGen:CN238693
xref: MeSH:D001176
xref: MIM:617146 "phenotype"
[Term]
id: DI-04864
name: Mitochondrial DNA depletion syndrome 15, hepatocerebral type
def: "An autosomal recessive mitochondrial disorder characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle. Hepatic pathology includes cirrhosis, steatosis and cholestasis. Progression to liver failure and death is rapid with no evidence of neurological impairment or other organ involvement." []
synonym: "Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)" [UniProt]
xref: MedGen:CN238696
xref: MeSH:D017240
xref: MIM:617156 "phenotype"
[Term]
id: DI-04865
name: Short stature, brachydactyly, impaired intellectual developmental, and seizures
def: "An autosomal recessive disease characterized by developmental delay, learning disabilities, mild intellectual disability, delayed speech, and skeletal abnormalities. Skeletal features include short stature, brachydactyly, and short metacarpals and metatarsals." []
synonym: "Short stature, brachydactyly, intellectual developmental disability, and seizures" [UniProt]
xref: MedGen:CN238697
xref: MeSH:D001847
xref: MeSH:D065886
xref: MIM:617157 "phenotype"
[Term]
id: DI-04866
name: Heterotaxy, visceral, 8, autosomal
def: "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX8 inheritance is autosomal recessive." []
xref: MedGen:CN239116
xref: MeSH:D059446
xref: MIM:617205 "phenotype"
[Term]
id: DI-04867
name: Periventricular nodular heterotopia 7
def: "A form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH7 is an autosomal dominant disease characterized by delayed psychomotor development, intellectual disability, and seizures in some patients. Additional features include cleft palate and toe syndactyly." []
xref: MedGen:CN239092
xref: MeSH:D054091
xref: MIM:617201 "phenotype"
[Term]
id: DI-04868
name: Spermatogenic failure 17
def: "An autosomal recessive infertility disorder due to failure of oocyte activation and fertilization by sperm that otherwise exhibits normal morphology." []
synonym: "Male infertility due to oocyte activation failure" [UniProt]
xref: MedGen:CN239094
xref: MeSH:D007248
xref: MIM:617214 "phenotype"
[Term]
id: DI-04869
name: Sudden cardiac failure, infantile
def: "A disease characterized by sudden death within the first 2 years of life due to unexpected cardiac arrest. Some patients manifest hypertrophic cardiomyopathy, lipid accumulation in myocardium, degeneration of mitochondrial cristae, metabolic acidosis, and elevated plasma lactate levels. SCFI transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN239117
xref: MeSH:D016757
xref: MIM:617222 "phenotype"
[Term]
id: DI-04870
name: Sudden cardiac failure, alcohol-induced
def: "An autosomal recessive disease characterized by sudden death due to unexpected cardiac arrest following ingestion of small amounts of alcohol." []
xref: MedGen:CN239118
xref: MeSH:D016757
xref: MIM:617223 "phenotype"
[Term]
id: DI-04871
name: Amelogenesis imperfecta, hypomaturation type, 2A6
def: "A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel." []
synonym: "Amelogenesis imperfecta, hypomaturation type, IIA6" [UniProt]
xref: MedGen:CN239111
xref: MeSH:D000567
xref: MIM:617217 "phenotype"
[Term]
id: DI-04872
name: Sedoheptulokinase deficiency
def: "An autosomal recessive metabolic disease characterized by increased urinary erythritol and sedoheptulose. Neonatal cholestasis, hypoglycemia, anemia, congenital arthrogryposis multiplex, multiple contractures and dysmorphisms have been reported in SHPKD patients, but the relationship of these features to the SHPKD is unclear." []
xref: MedGen:CN239115
xref: MeSH:D008661
xref: MIM:617213 "phenotype"
[Term]
id: DI-04873
name: Encephalopathy, progressive, with amyotrophy and optic atrophy
def: "An autosomal recessive, progressive, neurodegenerative encephalopathy with onset in infancy. Affected individuals manifest delayed psychomotor development, severe hypotonia, motor regression, spinal muscular atrophy, distal amyotrophy and weakness of all limbs, and intellectual disability of variable severity. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy." []
xref: MedGen:CN239146
xref: MeSH:D020271
xref: MIM:617207 "phenotype"
[Term]
id: DI-04874
name: Lethal congenital contracture syndrome 11
def: "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth." []
xref: MedGen:CN239054
xref: MeSH:D001176
xref: MIM:617194 "phenotype"
[Term]
id: DI-04875
name: Intellectual developmental disorder, autosomal recessive 57
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT57 patients have moderate to severe intellectual disability, and delayed psychomotor development with poor or absent speech. Some patients manifest seizures and autistic features." []
xref: MedGen:CN239056
xref: MeSH:D008607
xref: MIM:617188 "phenotype"
[Term]
id: DI-04876
name: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum
def: "An autosomal recessive disease with neurodevelopmental and neurodegenerative features. PEBAT is characterized by early-onset cortical atrophy, hypomyelination, microcephaly, thin corpus callosum, delayed psychomotor development, developmental regression, intellectual disability, seizures, optic atrophy, muscle weakness and atrophy, spastic quadriplegia, and respiratory insufficiency due to hypotonia." []
xref: MedGen:CN239091
xref: MeSH:D020271
xref: MIM:617193 "phenotype"
[Term]
id: DI-04877
name: Shashi-Pena syndrome
def: "An autosomal dominant syndrome characterized by delayed psychomotor development, intellectual disability of variable severity, macrocephaly, prominent eyes, arched eyebrows, hypertelorism, a glabellar nevus flammeus, neonatal feeding difficulties, and hypotonia. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures." []
xref: MedGen:CN239057
xref: MeSH:D065886
xref: MIM:617190 "phenotype"
[Term]
id: DI-04878
name: Spermatogenic failure 16
def: "An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. Most spermatozoa are made up of headless tails, while a small proportion has an abnormal head-tail junction. A few spermatozoa are made up of tailless heads." []
synonym: "Acephalic spermatozoa syndrome" [UniProt]
xref: MedGen:CN239047
xref: MeSH:D007248
xref: MIM:617187 "phenotype"
[Term]
id: DI-04879
name: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1
def: "An autosomal recessive severe neurometabolic disorder characterized by severe leukoencephalopathy usually associated with a trivial febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures. Disease course is rapidly progressive, leading to coma, global brain atrophy, and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions." []
xref: MedGen:CN239055
xref: MeSH:D020271
xref: MIM:617186 "phenotype"
[Term]
id: DI-04880
name: Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type
def: "An autosomal dominant mitochondrial disorder characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Affected infants have respiratory insufficiency requiring mechanical ventilation and have poor or no motor development. Many die in infancy, and those that survive have profound hypotonia with significant muscle weakness and inability to walk independently. Some patients develop hypertrophic cardiomyopathy. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies." []
synonym: "Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) autosomal dominant" [UniProt]
synonym: "Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type, autosomal dominant" [UniProt]
xref: MedGen:CN239059
xref: MeSH:D017240
xref: MIM:617184 "phenotype"
[Term]
id: DI-04881
name: Harel-Yoon syndrome
def: "A syndrome characterized by global developmental delay, hypotonia, intellectual disability, and axonal neuropathy. Some patients have optic atrophy and hypertrophic cardiomyopathy. HAYOS inheritance can be autosomal dominant or autosomal recessive." []
xref: MedGen:CN239114
xref: MeSH:D065886
xref: MIM:617183 "phenotype"
[Term]
id: DI-04882
name: Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia
def: "An autosomal recessive neurodevelopmental disorder characterized by speech impairment and variable expressivity of attention deficit- hyperactivity disorder. Some patients manifest developmental and motor delay, hypotonia, and sinus-node dysfunction." []
synonym: "LADCI" [UniProt]
synonym: "Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia" [UniProt]
synonym: "Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia" [UniProt]
xref: MedGen:CN239053
xref: MeSH:D065886
xref: MIM:617182 "phenotype"
[Term]
id: DI-04883
name: Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia
def: "An autosomal recessive multisystem disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias. Additional features include visual abnormalities, seizures, hypotonia, and gastric reflux." []
synonym: "IDDCA" [UniProt]
synonym: "Intellectual developmental disorder with cardiac arrhythmia" [UniProt]
xref: MedGen:CN239052
xref: MeSH:D000015
xref: MeSH:D065886
xref: MIM:617173 "phenotype"
[Term]
id: DI-04884
name: Chitayat syndrome
def: "An autosomal dominant syndrome characterized by hyperphalangism, partial syndactyly, bilateral accessory phalanx resulting in shortened index fingers, hallux valgus, brachydactyly, facial anomalies, diffuse bronchomalacia, and respiratory distress at birth and in infancy." []
xref: MedGen:CN238868
xref: MeSH:D017880
xref: MeSH:D055091
xref: MIM:617180 "phenotype"
[Term]
id: DI-04885
name: Retinal dystrophy with or without extraocular anomalies
def: "An autosomal recessive disease characterized by progressive retinal dystrophy, chorioretinal macular atrophy, reduced cone and rod responses on ERG, and decrease visual acuity. Extraocular anomalies are variably present in some patients and include pulmonary fibrosis, sensorineural hearing loss, and endocrine features such as goiter and primary ovarian insufficiency." []
xref: MedGen:CN238856
xref: MeSH:D058499
xref: MIM:617175 "phenotype"
[Term]
id: DI-04886
name: Myopathy, distal, with rimmed vacuoles
def: "An autosomal dominant myopathy with adult onset, characterized by muscle weakness of the distal upper and lower limbs, walking difficulties, and proximal weakness of the shoulder girdle muscles. Muscle biopsy shows rimmed vacuoles." []
synonym: "MSP4" [UniProt]
synonym: "Multisystem proteinopathy 4" [UniProt]
xref: MedGen:CN239822
xref: MeSH:D009135
xref: MIM:617158 "phenotype"
[Term]
id: DI-04887
name: Ataxia and polyneuropathy, adult-onset
def: "A mitochondrial disease characterized by ataxia, axonal sensorimotor polyneuropathy, abnormal eye movements, and dysarthria." []
xref: MedGen:C1838916
xref: MeSH:D001259
xref: MeSH:D011115
xref: MeSH:D028361
xref: MIM:500010 "phenotype"
[Term]
id: DI-04888
name: Cardiomyopathy, infantile hypertrophic
def: "An infantile form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death." []
xref: MedGen:C2748884
xref: MeSH:D002312
xref: MIM:500006 "phenotype"
[Term]
id: DI-04889
name: Keratosis pilaris atrophicans
def: "A group of rare genodermatoses characterized by keratotic follicular papules, variable degrees of inflammation, and secondary atrophic scarring. Most cases are associated with an atopic diathesis and keratosis pilaris on the extensor extremities. KPA is comprised of three distinct clinical subtypes: keratosis pilaris atrophicans faciei, atrophoderma vermiculatum, and keratosis follicularis spinulosa decalvans. Affected individuals may present with features overlapping the 3 subtypes." []
xref: MedGen:C0263383
xref: MeSH:D007642
xref: MIM:604093 "phenotype"
[Term]
id: DI-04890
name: Myopathy, myofibrillar, 8
def: "A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM8 is an autosomal recessive form, clinically characterized by slowly progressive symmetrical weakness affecting both proximal and distal muscles, with normal to moderately elevated creatine kinase. Mild facial weakness, a high palate, nasal speech, and swallowing difficulties are typical features, mild restrictive lung disease is common, and late-onset cardiac involvement may be present." []
xref: MedGen:CN239575
xref: MeSH:D020914
xref: MIM:617258 "phenotype"
[Term]
id: DI-04891
name: Lissencephaly 8
def: "A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS8 patients manifest delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, hypotonia, cortical gyral abnormalities, and hypoplasia of the corpus callosum, brainstem and cerebellum. LIS8 inheritance is autosomal recessive." []
xref: MedGen:CN239574
xref: MeSH:D054082
xref: MIM:617255 "phenotype"
[Term]
id: DI-04892
name: Seckel syndrome 10
def: "A form of Seckel syndrome, a rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability." []
xref: MedGen:CN239567
xref: MeSH:D004392
xref: MeSH:D008831
xref: MIM:617253 "phenotype"
[Term]
id: DI-04893
name: Cataract 34, multiple types
def: "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function." []
synonym: "Cataract 34, multiple types, with or without microcornea" [UniProt]
synonym: "Cataract, autosomal recessive congenital 3" [UniProt]
synonym: "CATC3" [UniProt]
xref: MedGen:C2751822
xref: MeSH:D002386
xref: MIM:612968 "phenotype"
[Term]
id: DI-04894
name: Neurodevelopmental disorder with hypotonia, seizures, and absent language
def: "A neurodevelopmental disorder characterized by severely delayed psychomotor development, absent speech, epilepsy, encephalopathy, hypotonia, dystonia/dyskinesia, and macrocephaly. Brain imaging show cerebral atrophy, enlarged ventricles, and white matter abnormalities." []
xref: MedGen:CN239935
xref: MeSH:D065886
xref: MIM:617268 "phenotype"
[Term]
id: DI-04895
name: Uncombable hair syndrome 1
def: "A form of uncombable hair syndrome, a condition characterized by scalp hair that is impossible to comb due to the haphazard arrangement of the hair bundles. A characteristic morphologic feature is a triangular to reniform to heart shape on cross-sections, and a groove, canal or flattening along the entire length of the hair. Most individuals are affected early in childhood and the hair takes on a spun-glass appearance with the hair becoming dry, curly, glossy, lighter in color, and progressively uncombable. The hair growth rate can range from slow to normal, and the condition improves with age. UHS1 inheritance is autosomal dominant." []
synonym: "Chevelure en vadrouille" [UniProt]
synonym: "Cheveux incoiffables" [UniProt]
synonym: "Pili trianguli et canaliculi" [UniProt]
synonym: "Spun glass hair" [UniProt]
synonym: "UHS" [UniProt]
synonym: "Uncombable hair syndrome" [UniProt]
synonym: "Unmanageable hair syndrome" [UniProt]
xref: MedGen:C0432347
xref: MeSH:D006201
xref: MIM:191480 "phenotype"
[Term]
id: DI-04896
name: Uncombable hair syndrome 2
def: "A form of uncombable hair syndrome, a condition characterized by scalp hair that is impossible to comb due to the haphazard arrangement of the hair bundles. A characteristic morphologic feature is a triangular to reniform to heart shape on cross-sections, and a groove, canal or flattening along the entire length of the hair. Most individuals are affected early in childhood and the hair takes on a spun-glass appearance with the hair becoming dry, curly, glossy, lighter in color, and progressively uncombable. The hair growth rate can range from slow to normal, and the condition improves with age." []
xref: MedGen:CN239934
xref: MeSH:D006201
xref: MIM:617251 "phenotype"
[Term]
id: DI-04897
name: Uncombable hair syndrome 3
def: "A form of uncombable hair syndrome, a condition characterized by scalp hair that is impossible to comb due to the haphazard arrangement of the hair bundles. A characteristic morphologic feature is a triangular to reniform to heart shape on cross-sections, and a groove, canal or flattening along the entire length of the hair. Most individuals are affected early in childhood and the hair takes on a spun-glass appearance with the hair becoming dry, curly, glossy, lighter in color, and progressively uncombable. The hair growth rate can range from slow to normal, and the condition improves with age." []
xref: MedGen:CN239938
xref: MeSH:D006201
xref: MIM:617252 "phenotype"
[Term]
id: DI-04898
name: Atrial fibrillation, familial, 18
def: "A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure." []
xref: MedGen:CN239939
xref: MeSH:D001281
xref: MIM:617280 "phenotype"
[Term]
id: DI-04899
name: Tooth agenesis, selective, 9
def: "A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). STHAG9 inheritance is autosomal dominant." []
xref: MedGen:CN239933
xref: MeSH:D000848
xref: MIM:617275 "phenotype"
[Term]
id: DI-04900
name: Immunodeficiency 50
def: "A primary immunodeficiency disorder characterized by onset of recurrent bacterial or varicella zoster virus infections in early childhood, profound lymphopenia, hypogammaglobulinemia, fluctuating monocytopenia and neutropenia, and a poor immune response to vaccine antigens." []
synonym: "Immunodeficiency 50, X-linked recessive" [UniProt]
xref: MedGen:CN239572
xref: MeSH:D007153
xref: MIM:300988 "phenotype"
[Term]
id: DI-04901
name: Glaucoma 3, primary congenital, E
def: "An autosomal dominant form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor." []
xref: MedGen:CN239932
xref: MeSH:D005901
xref: MIM:617272 "phenotype"
[Term]
id: DI-04902
name: Intellectual developmental disorder, autosomal recessive 58
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT58 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN239931
xref: MeSH:D008607
xref: MIM:617270 "phenotype"
[Term]
id: DI-04903
name: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
def: "An autosomal dominant syndrome characterized by underdevelopment of the corpus callosum, mild to moderate developmental delay and intellectual disability, variable microcephaly or mild macrocephaly, short stature, feeding problems, facial dysmorphisms, and cardiac and renal malformations." []
xref: MedGen:CN239944
xref: MeSH:D002658
xref: MIM:617260 "phenotype"
[Term]
id: DI-04904
name: 3-methylglutaconic aciduria 8
def: "An autosomal recessive inborn error of metabolism resulting in early death. Clinical features include extreme hypertonia observed at birth, alternating with hypotonia, subsequent appearance of extrapyramidal symptoms, lack of psychomotor development, microcephaly, and intractable seizures. Patients show lactic acidemia, 3- methylglutaconic aciduria, intermittent neutropenia, and progressive brain atrophy." []
synonym: "3-methylglutaconic aciduria, type VII" [UniProt]
xref: MedGen:CN239573
xref: MeSH:D008661
xref: MIM:617248 "phenotype"
[Term]
id: DI-04905
name: Fanconi anemia, complementation group U
def: "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair." []
xref: MedGen:CN239559
xref: MeSH:D005199
xref: MIM:617247 "phenotype"
[Term]
id: DI-04906
name: Fanconi anemia, complementation group R
def: "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair." []
xref: MedGen:CN239562
xref: MeSH:D005199
xref: MIM:617244 "phenotype"
[Term]
id: DI-04907
name: Fanconi anemia, complementation group V
def: "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair." []
xref: MedGen:CN239561
xref: MeSH:D005199
xref: MIM:617243 "phenotype"
[Term]
id: DI-04908
name: Lung disease, immunodeficiency, and chromosome breakage syndrome
def: "An autosomal recessive chromosome breakage syndrome associated with severe, fatal lung disease in early childhood, following viral pneumonia. LICS is characterized by combined T and B-cell immunodeficiency. Some patients may have mild dysmorphic features." []
xref: MedGen:CN239560
xref: MeSH:D007153
xref: MeSH:D008171
xref: MIM:617241 "phenotype"
[Term]
id: DI-04909
name: Myasthenic syndrome, congenital, 21, presynaptic
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS21 is an autosomal recessive, pre-synaptic form characterized by ptosis, ophthalmoplegia, fatigable weakness, apneic crises, and deterioration of symptoms in cold water. Learning difficulties and left ventricular dysfunction may be present in some patients." []
xref: MedGen:CN239550
xref: MeSH:D020294
xref: MIM:617239 "phenotype"
[Term]
id: DI-04910
name: Myopia 25, autosomal dominant
def: "A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far." []
xref: MedGen:CN239544
xref: MeSH:D009216
xref: MIM:617238 "phenotype"
[Term]
id: DI-04911
name: Immunodeficiency 49
def: "A form of severe combined immunodeficiency characterized by severe T- cell lymphopenia, no detectable T-cell receptor excision circles, no naive helper CD4+ T-cells, and impaired T-cell proliferative response. In addition to primary immunodeficiency, affected individuals manifest multiple abnormal systemic features, including severe delayed psychomotor development, intellectual disability, spastic quadriplegia, and craniofacial abnormalities." []
synonym: "SCID, T cell-negative, B cell-positive, NK cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities" [UniProt]
synonym: "SCID, T-cell-negative, B-cell-positive, NK-cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities" [UniProt]
synonym: "Severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities" [UniProt]
xref: MedGen:CN239549
xref: MeSH:D016511
xref: MIM:617237 "phenotype"
[Term]
id: DI-04912
name: Cone-rod dystrophy and hearing loss 1
def: "An autosomal recessive disease defined by the association of progressive cone-rod dystrophy with sensorineural hearing loss. Cone- rod dystrophy is characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors." []
xref: MedGen:CN239548
xref: MeSH:D054062
xref: MIM:617236 "phenotype"
[Term]
id: DI-04913
name: Myoclonus, intractable, neonatal
def: "An autosomal dominant neurologic disorder characterized by severe, infantile-onset myoclonic seizures, hypotonia, optic nerve abnormalities, dysphagia, apnea, and early developmental arrest. Brain imaging shows a progressive leukoencephalopathy. Some patients may die in infancy." []
xref: MedGen:CN239547
xref: MeSH:D004831
xref: MIM:617235 "phenotype"
[Term]
id: DI-04914
name: Oocyte/zygote/embryo maturation arrest 16
def: "A rare cause of female primary infertility. In affected women, ovulation and fertilization proceed normally but embryos are arrested at early stages of development. Inheritance is autosomal recessive." []
synonym: "Preimplantation embryonic lethality 2" [UniProt]
synonym: "PREMBL2" [UniProt]
xref: MedGen:CN239491
xref: MeSH:D007247
xref: MIM:617234 "phenotype"
[Term]
id: DI-04915
name: Muscular dystrophy, limb-girdle, autosomal recessive 21
def: "A form of autosomal recessive limb-girdle muscular dystrophy, a degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMDR21 is characterized by young-adult onset." []
synonym: "LGMD2Z" [UniProt]
synonym: "Limb-girdle muscular dystrophy 2Z" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 2Z" [UniProt]
xref: MedGen:CN239490
xref: MeSH:D049288
xref: MIM:617232 "phenotype"
[Term]
id: DI-04916
name: Combined oxidative phosphorylation deficiency 31
def: "An autosomal recessive, severe mitochondrial disease with multisystemic manifestations appearing soon after birth or in early infancy. Clinical features include left ventricular non-compaction, global developmental delay, severe hypotonia, seizures, cataract, and abnormal movements. Death may occur in early childhood." []
xref: MedGen:CN239489
xref: MeSH:D028361
xref: MIM:617228 "phenotype"
[Term]
id: DI-04917
name: Meester-Loeys syndrome
def: "An X-linked, thoracic aortic aneurysm syndrome characterized by early- onset, severe aortic aneurysm and dissection. Other recurrent findings include hypertelorism, pectus deformity, joint hypermobility, contractures, and mild skeletal dysplasia." []
xref: MedGen:CN239566
xref: MeSH:D017545
xref: MIM:300989 "phenotype"
[Term]
id: DI-04918
name: Ventricular tachycardia, catecholaminergic polymorphic, 3
def: "An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, or sudden death after physical activity or emotional stress. CPVT3 is an autosomal recessive disorder with onset at early age and associated with sudden death in childhood. Patients manifest QT prolongation on adrenergic stimulation." []
xref: MedGen:C3151463
xref: MeSH:D017180
xref: MIM:614021 "phenotype"
[Term]
id: DI-04919
name: Developmental and epileptic encephalopathy 49
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE49 is a severe autosomal recessive form characterized by onset of seizures in the neonatal period, global developmental delay, intellectual disability, and additionally cerebral calcifications and coarse facial features." []
synonym: "EIEE49" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 49" [UniProt]
xref: MedGen:CN239940
xref: MeSH:D013036
xref: MIM:617281 "phenotype"
[Term]
id: DI-04920
name: Nephronophthisis 20
def: "A form of nephronophthisis, an autosomal recessive chronic tubulo- interstitial nephritis that progresses to end-stage renal failure. Some patients have cystic kidneys of normal size and no extrarenal manifestations, whereas others have enlarged renal size and severe extrarenal defects, including hypertrophic obstructive cardiomyopathy, aortic stenosis, pulmonary stenosis, patent ductus arteriosus, situs inversus, and periportal liver fibrosis. NPHP20 patients do not show extrarenal manifestations or evidence of a ciliopathy, such as situs inversus or polydactyly." []
xref: MedGen:CN230115
xref: MeSH:D052177
xref: MIM:617271 "phenotype"
[Term]
id: DI-04921
name: Ichthyosis, congenital, autosomal recessive 12
def: "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs." []
xref: MedGen:CN240372
xref: MeSH:D017490
xref: MIM:617320 "phenotype"
[Term]
id: DI-04922
name: Anterior segment dysgenesis 8
def: "A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD8 patients predominantly manifest iris and lens abnormalities, in the absence of retinal abnormalities or extra- ocular features. ASGD8 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN240371
xref: MeSH:D005124
xref: MIM:617319 "phenotype"
[Term]
id: DI-04923
name: Anterior segment dysgenesis 6
def: "A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD6 patients predominantly manifest Peters anomaly. Peters anomaly consists of corneal leukoma, defects in the posterior structures of the cornea such as absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iridocorneal and/or keratolenticular adhesions. Over 50% of patients develop glaucoma in childhood." []
xref: MedGen:CN240370
xref: MeSH:D005124
xref: MIM:617315 "phenotype"
[Term]
id: DI-04924
name: Congenital bile acid synthesis defect 6
def: "An inborn error of bile acid synthesis characterized by abnormally increased liver enzymes, hypolipidemia and low cholesterol, vitamin D deficiency, elevated plasma and urinary levels of C27 intermediate bile acids 3alpha,7alpha-dihydroxy-5beta-cholestanoic acid (DHCA) and 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoic acid (THCA). Serum levels of phytanic and pristanic acids are normal. Clinical features include liver fibrosis, mild ataxia, delayed development, and cognitive impairment. Liver histology shows many thin fibrous septa, swollen hepatocytes, glycogenated nuclei, and focal acinar transformation, consistent with hepatocellular injury and regeneration, without signs of obvious cholestasis, cholate stasis, or steatosis. CBAS6 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN240352
xref: MeSH:D002780
xref: MIM:617308 "phenotype"
[Term]
id: DI-04925
name: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
def: "An autosomal recessive syndrome characterized by severe microphthalmia, profound congenital sensorineural hearing loss, lack of pigment in the hair, skin, and eyes, macrocephaly, facial dysmorphism, and osteopetrosis." []
synonym: "COMMAD syndrome" [UniProt]
xref: MedGen:CN240351
xref: MeSH:D000015
xref: MIM:617306 "phenotype"
[Term]
id: DI-04926
name: Retinitis pigmentosa 77
def: "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP77 inheritance is autosomal recessive." []
xref: MedGen:CN239959
xref: MeSH:D012174
xref: MIM:617304 "phenotype"
[Term]
id: DI-04927
name: Mucopolysaccharidosis-plus syndrome
def: "A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPSPS is an autosomal recessive form characterized by coarse facial features, dysostosis multiplex, hepatosplenomegaly, respiratory difficulties, intellectual disability, developmental delay, pyramidal signs, severe chronic anemia, renal involvement and cardiac defects. Laboratory analyses show proteinuria with glomerular foamy cells, excess secretion of urinary glycosaminoglycans, and extremely high levels of plasma heparan sulphate. Disease onset is in infancy. Most patients die in the first years of life due to cardiorespiratory failure." []
xref: MedGen:CN239958
xref: MeSH:D009083
xref: MIM:617303 "phenotype"
[Term]
id: DI-04928
name: Optic atrophy 11
def: "An autosomal recessive disease characterized by progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA11 patients also manifest delayed psychomotor development, intellectual disability, ataxia, and leukoencephalopathy on brain imaging." []
xref: MedGen:CN239957
xref: MeSH:D015418
xref: MIM:617302 "phenotype"
[Term]
id: DI-04929
name: Glycine encephalopathy with normal serum glycine
def: "An autosomal recessive, severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy." []
xref: MedGen:CN239956
xref: MeSH:D020739
xref: MIM:617301 "phenotype"
[Term]
id: DI-04930
name: Lymphatic malformation 7
def: "A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM7 is an autosomal dominant form with variable expressivity. Some individuals present with severe non-immune hydrops fetalis, which may cause perinatal demise or fully resolve after the neonatal period. Others present with no edema and have milder clinical features, such as atrial septal defect or varicose veins as adults." []
synonym: "Central conduction lymphatic anomaly" [UniProt]
synonym: "HFASD" [UniProt]
synonym: "Hydrops fetalis, non-immune, and/or atrial septal defect" [UniProt]
xref: MedGen:CN239945
xref: MeSH:D008209
xref: MIM:617300 "phenotype"
[Term]
id: DI-04931
name: Amelogenesis imperfecta 1J
def: "A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. AI1J is an autosomal recessive form characterized by hypoplastic enamel, enamel discolorization ranging from yellow to black, and normal dentin." []
xref: MedGen:CN239948
xref: MeSH:D000567
xref: MIM:617297 "phenotype"
[Term]
id: DI-04932
name: Spastic paraplegia, intellectual disability, nystagmus, and obesity
def: "An autosomal dominant syndrome characterized by rapid growth in infancy, obesity, global developmental delay, intellectual disability, spastic paraplegia, ocular defects, and dysmorphic facial features." []
xref: MedGen:CN239947
xref: MeSH:D000015
xref: MIM:617296 "phenotype"
[Term]
id: DI-04933
name: Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy
def: "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. EBS6 is an autosomal dominant disorder presenting at birth with extensive skin defects on the extremities, leaving behind hypopigmentation and atrophy with a whirled pattern. Cutaneous fragility and generalized blistering persist during childhood and decrease in adulthood. Adult patients have dyspigmentation and atrophy of the skin, scars, follicular atrophoderma, sparse body hair, progressive diffuse alopecia of the scalp, diffuse palmoplantar keratoderma, and nail changes." []
synonym: "EBSSH" [UniProt]
synonym: "Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss, with or without cardiomyopathy" [UniProt]
synonym: "Epidermolysis bullosa simplex, generalized, with scarring and hair loss" [UniProt]
xref: MedGen:CN239946
xref: MeSH:D016110
xref: MIM:617294 "phenotype"
[Term]
id: DI-04934
name: Epilepsy, early-onset, 1, vitamin B6-dependent
def: "An autosomal recessive neurologic disorder characterized by seizures responsive to treatment with activated vitamin B6 and/or pyridoxine. Most patients show delayed psychomotor development, intellectual disability and learning disability. Seizures onset is in the first days or months of life." []
synonym: "Epilepsy, early-onset, vitamin B6-dependent" [UniProt]
synonym: "EPVB6D" [UniProt]
xref: MedGen:CN239943
xref: MeSH:D012640
xref: MIM:617290 "phenotype"
[Term]
id: DI-04935
name: Dystonia 28, childhood-onset
def: "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT28 is an autosomal dominant, progressive form characterized by onset in the first decade of life and variable severity. Dystonia begins focally in the lower limbs, resulting in gait difficulties, with later progression to other body regions, including the upper limbs, neck, and orofacial region." []
xref: MedGen:CN239941
xref: MeSH:D004421
xref: MIM:617284 "phenotype"
[Term]
id: DI-04936
name: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
def: "An autosomal recessive neurologic disorder characterized by childhood- onset dystonia, basal ganglia degeneration and optic atrophy with decreased visual acuity. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYTOABG severity is variable, and some patients lose independent ambulation." []
synonym: "Dystonia 29, childhood-onset" [UniProt]
synonym: "DYT29" [UniProt]
synonym: "MEPAN syndrome" [UniProt]
xref: MedGen:CN239942
xref: MeSH:D001480
xref: MeSH:D009896
xref: MeSH:D020821
xref: MIM:617282 "phenotype"
[Term]
id: DI-04937
name: Developmental and epileptic encephalopathy 48
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE48 is an autosomal recessive form characterized by onset of seizures in the first year of life. Affected individuals manifest global developmental delay, intellectual disability, absent speech, and poor, if any, motor development." []
synonym: "EIEE48" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 48" [UniProt]
xref: MedGen:CN239937
xref: MeSH:D013036
xref: MIM:617276 "phenotype"
[Term]
id: DI-04938
name: Spastic paraplegia 78, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body." []
xref: MedGen:CN239936
xref: MeSH:D015419
xref: MIM:617225 "phenotype"
[Term]
id: DI-04939
name: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
def: "An X-linked recessive disorder with onset in early childhood, characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis. Variable clinical features include anemia, and mild early motor or speech delay." []
xref: MedGen:CN240369
xref: MeSH:D000015
xref: MIM:300990 "phenotype"
[Term]
id: DI-04940
name: Ciliary dyskinesia, primary, 36, X-linked
def: "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left- right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD36 inheritance is X-linked recessive. About half of CILD36 patients have laterality defects due to ciliary dysfunction at the embryonic node." []
synonym: "Ciliary dyskinesia, primary, 36, with or without situs inversus" [UniProt]
xref: MedGen:CN240511
xref: MeSH:D007619
xref: MIM:300991 "phenotype"
[Term]
id: DI-04941
name: Yao syndrome
def: "An autoinflammatory disease characterized by periodic fever, dermatitis, polyarthritis, leg swelling, and gastrointestinal and sicca-like symptoms. YAOS is a complex disease with multifactorial inheritance." []
xref: MedGen:CN240388
xref: MeSH:D056660
xref: MIM:617321 "phenotype"
[Term]
id: DI-04942
name: Intellectual developmental disorder, autosomal recessive 59
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:CN240390
xref: MeSH:D008607
xref: MIM:617323 "phenotype"
[Term]
id: DI-04943
name: Developmental and epileptic encephalopathy 51
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE51 is an autosomal recessive form characterized by onset of intractable seizures and hypotonia in the first days or weeks of life, and severely delayed psychomotor development." []
synonym: "EIEE51" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 51" [UniProt]
xref: MedGen:CN240510
xref: MeSH:D013036
xref: MIM:617339 "phenotype"
[Term]
id: DI-04944
name: Developmental and epileptic encephalopathy 52
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE52 inheritance is autosomal recessive." []
synonym: "EIEE52" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 52" [UniProt]
xref: MedGen:CN240662
xref: MeSH:D013036
xref: MIM:617350 "phenotype"
[Term]
id: DI-04945
name: Hypotonia, ataxia, and delayed development syndrome
def: "An autosomal dominant neurodevelopmental syndrome characterized by global developmental delay, moderate to severe intellectual disability, cerebellar ataxia, hypotonia, speech delay, variable dysmorphic features, and genitourinary abnormalities including vesicoureteric reflux." []
xref: MedGen:CN240505
xref: MeSH:D065886
xref: MIM:617330 "phenotype"
[Term]
id: DI-04946
name: Intellectual developmental disorder with dysmorphic facies and ptosis
def: "An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and facial dysmorphisms, most notably ptosis. Additional features may include poor growth, hypotonia, and seizures." []
xref: MedGen:CN240506
xref: MeSH:D065886
xref: MIM:617333 "phenotype"
[Term]
id: DI-04947
name: Congenital myopathy 24
def: "An autosomal recessive muscular disorder characterized by slowly progressive muscle weakness and atrophy, mainly affecting the lower limbs and neck. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure. Muscle biopsy shows nemaline bodies." []
synonym: "NEM11" [UniProt]
synonym: "Nemaline myopathy 11, autosomal recessive" [UniProt]
xref: MedGen:CN240509
xref: MeSH:D017696
xref: MIM:617336 "phenotype"
[Term]
id: DI-04948
name: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
def: "A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD12 is an autosomal dominant, hypohidrotic form characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth, and the inability to sweat due to defective development of sweat glands." []
xref: MedGen:CN240497
xref: MeSH:D004476
xref: MIM:617337 "phenotype"
[Term]
id: DI-04949
name: Cerebroretinal microangiopathy with calcifications and cysts 2
def: "An autosomal recessive, multisystemic disorder characterized by intrauterine growth retardation and, later in life, premature aging symptoms, including poor growth, graying hair, liver fibrosis, portal hypertension, esophageal varices, osteopenia, pancytopenia, hypocellular bone marrow, and vascular telangiectasia resulting in gastrointestinal bleeding. Brain calcifications and white matter changes are responsible for signs including spasticity, ataxia, or dystonia observed in some patients." []
xref: MedGen:CN240513
xref: MeSH:D002114
xref: MeSH:D056784
xref: MeSH:D058456
xref: MeSH:D059345
xref: MIM:617341 "phenotype"
[Term]
id: DI-04950
name: Aortic aneurysm, familial thoracic 11
def: "A form of thoracic aortic aneurysm, a disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance." []
xref: MedGen:CN240581
xref: MeSH:D017545
xref: MIM:617349 "phenotype"
[Term]
id: DI-04951
name: Hyperparathyroidism 4
def: "A form of familial primary hyperparathyroidism, a hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone due to parathyroid hyperplasia or neoplasms. Clinical features include hypercalcemia, phosphaturia, and increased bone resorption. HRPT4 inheritance is autosomal dominant." []
xref: MedGen:CN240514
xref: MeSH:D049950
xref: MIM:617343 "phenotype"
[Term]
id: DI-04952
name: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
def: "An autosomal dominant syndrome characterized by atrial and/or ventricular septal congenital heart defects, facial dysmorphism with hypertelorism, upslanted palpebral fissures, epicanthal folds, ptosis, strabismus, posteriorly rotated ears, thin upper lip, and small mouth. Patients manifest global developmental delay, delayed walking and speech acquisition, and intellectual disability. Some patients have mild microcephaly, a small cerebral cortex, and agenesis of corpus callosum. More variable features include clinodactyly and/or camptodactyly of the fingers, hypotonia, and joint hypermobility." []
xref: MedGen:CN240690
xref: MeSH:D006330
xref: MeSH:D008607
xref: MIM:617360 "phenotype"
[Term]
id: DI-04953
name: Congenital heart defects and ectodermal dysplasia
def: "An autosomal dominant syndrome characterized by atrial and/or ventricular septal congenital heart defects and variable features of ectodermal dysplasia, including sparse hair, dry skin, thin skin, fragile nails, premature loss of primary teeth, and small widely spaced teeth. Patients manifest developmental disabilities ranging from motor delay and delayed speech to global developmental retardation." []
xref: MedGen:CN240689
xref: MeSH:D004476
xref: MeSH:D006330
xref: MIM:617364 "phenotype"
[Term]
id: DI-04954
name: Grange syndrome
def: "An autosomal recessive syndrome of stenosis or occlusion of multiple arteries, including renal, abdominal, cerebral and probably coronary arteries, congenital heart defects, brachydactyly, syndactyly, bone fragility, and learning disabilities." []
synonym: "Arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly" [UniProt]
synonym: "Grange occlusive arterial syndrome" [UniProt]
xref: MedGen:C1865267
xref: MeSH:D001157
xref: MIM:602531 "phenotype"
[Term]
id: DI-04955
name: Bosma arhinia microphthalmia syndrome
def: "An autosomal dominant syndrome characterized by severe hypoplasia of the nose, palatal abnormalities, hypoplasia of the eyes, sensory abnormalities of taste and smell, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence." []
synonym: "Arhinia choanal atresia microphthalmia" [UniProt]
synonym: "Arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism" [UniProt]
synonym: "Bosma Henkin Christiansen syndrome" [UniProt]
synonym: "Congenital absence of nose and anterior nasopharynx" [UniProt]
xref: MedGen:C1863878
xref: MeSH:D000013
xref: MIM:603457 "phenotype"
[Term]
id: DI-04956
name: Coronary artery disease
def: "A common heart disease characterized by reduced or absent blood flow in one or more of the arteries that encircle and supply the heart. Its most important complication is acute myocardial infarction." []
synonym: "Coronary artery disease, severe" [UniProt]
xref: MedGen:C0020479
xref: MeSH:D003324
xref: MIM:617347 "phenotype"
[Term]
id: DI-04957
name: Short-rib thoracic dysplasia 17 with or without polydactyly
def: "A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome." []
xref: MedGen:CN241837
xref: MeSH:D012779
xref: MIM:617405 "phenotype"
[Term]
id: DI-04958
name: Diamond-Blackfan anemia 16
def: "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies." []
xref: MedGen:CN241838
xref: MeSH:D029503
xref: MIM:617408 "phenotype"
[Term]
id: DI-04959
name: Diamond-Blackfan anemia 17
def: "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies." []
xref: MedGen:CN241839
xref: MeSH:D029503
xref: MIM:617409 "phenotype"
[Term]
id: DI-04960
name: Bardet-Biedl syndrome 21
def: "A form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease." []
xref: MedGen:CN241836
xref: MeSH:D020788
xref: MIM:617406 "phenotype"
[Term]
id: DI-04961
name: Developmental and epileptic encephalopathy 53
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE53 inheritance is autosomal recessive." []
synonym: "EIEE53" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 53" [UniProt]
xref: MedGen:CN240908
xref: MeSH:D013036
xref: MIM:617389 "phenotype"
[Term]
id: DI-04962
name: Developmental and epileptic encephalopathy 54
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent." []
synonym: "EIEE54" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 54" [UniProt]
xref: MedGen:CN240910
xref: MeSH:D013036
xref: MIM:617391 "phenotype"
[Term]
id: DI-04963
name: Myasthenic syndrome, congenital, 22
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features include easy fatigability and muscle weakness. CMS22 is an autosomal recessive form characterized by neonatal hypotonia." []
synonym: "PREPL deficiency" [UniProt]
xref: MedGen:CN240841
xref: MeSH:D020294
xref: MIM:616224 "phenotype"
[Term]
id: DI-04964
name: Peroxisome biogenesis disorder 10B
def: "A moderately severe peroxisome biogenesis disorder belonging to the Zellweger disease spectrum. PBD10B is characterized by neonatal jaundice, dysmorphic features, delayed psychomotor development, axial hypotonia that can progress to severe spastic paraparesis with hyperreflexia, nephrocalcinosis, neurogenic bladder, nystagmus, and cataracts. Laboratory studies show increased levels of very long-chain fatty acids. Inheritance is autosomal recessive." []
xref: MedGen:CN240842
xref: MeSH:D052919
xref: MIM:617370 "phenotype"
[Term]
id: DI-04965
name: Avascular necrosis of the femoral head, primary 2
def: "A disease characterized by mechanical failure of the subchondral bone, and degeneration of the hip joint. It usually leads to destruction of the hip joint in the third to fifth decade of life. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause considerable disability." []
xref: MedGen:CN240839
xref: MeSH:D005271
xref: MIM:617383 "phenotype"
[Term]
id: DI-04966
name: Hyperphenylalaninemia, mild, non-BH4-deficient
def: "An autosomal recessive disorder characterized by increased serum phenylalanine, normal BH4 metabolism, and highly variable neurologic defects, including movement abnormalities and intellectual disability." []
xref: MedGen:CN240901
xref: MeSH:D000592
xref: MIM:617384 "phenotype"
[Term]
id: DI-04967
name: Autoinflammation with arthritis and dyskeratosis
def: "A disorder characterized by recurrent fever, diffuse skin dyskeratosis, autoinflammation, autoimmunity, arthritis and high transitional B-cell level. Inheritance can be autosomal dominant or autosomal recessive." []
xref: MedGen:CN240904
xref: MeSH:D012873
xref: MeSH:D056660
xref: MIM:617388 "phenotype"
[Term]
id: DI-04968
name: Ectodermal dysplasia 13, hair/tooth type
def: "A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD13 is an autosomal recessive form characterized by severe oligodontia accompanied by anomalies of hair and skin." []
xref: MedGen:CN240911
xref: MeSH:D004476
xref: MIM:617392 "phenotype"
[Term]
id: DI-04969
name: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
def: "A neurodevelopmental disorder characterized by microcephaly, profound developmental delay, intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements. Brain imaging reveals delayed myelination and cerebral atrophy." []
xref: MedGen:CN241829
xref: MeSH:D065886
xref: MIM:617393 "phenotype"
[Term]
id: DI-04970
name: Sclerosing cholangitis, neonatal
def: "An autosomal recessive form of liver disease with onset in infancy. Affected infants have jaundice, cholestasis, acholic stools, and progressive liver dysfunction resulting in fibrosis and cirrhosis. Cholangiography shows patent biliary ducts, but there are bile duct irregularities." []
xref: MedGen:CN241830
xref: MeSH:D015209
xref: MIM:617394 "phenotype"
[Term]
id: DI-04971
name: Congenital disorder of glycosylation 2Q
def: "A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The transmission pattern of CDG2Q is consistent with autosomal recessive inheritance." []
synonym: "CDG IIq" [UniProt]
synonym: "CDG-IIq" [UniProt]
synonym: "CDGIIq" [UniProt]
synonym: "Congenital disorder of glycosylation, type IIq" [UniProt]
xref: MedGen:CN241831
xref: MeSH:D018981
xref: MIM:617395 "phenotype"
[Term]
id: DI-04972
name: Anauxetic dysplasia 2
def: "An autosomal recessive spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability." []
xref: MedGen:CN241834
xref: MeSH:D010009
xref: MIM:617396 "phenotype"
[Term]
id: DI-04973
name: Pseudo-TORCH syndrome 2
def: "An autosomal recessive multisystem disorder characterized by antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. Affected individuals tend to have respiratory insufficiency and seizures, and die in infancy. The phenotype resembles the sequelae of intrauterine infection, but there is no evidence of an infectious agent." []
xref: MedGen:CN241835
xref: MeSH:D009422
xref: MIM:617397 "phenotype"
[Term]
id: DI-04974
name: Cutis laxa, autosomal recessive, 2C
def: "A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2C patients exhibit severe hypotonia as well as cardiovascular involvement." []
synonym: "Cutis laxa autosomal recessive, type IIC" [UniProt]
xref: MedGen:CN241832
xref: MeSH:D003483
xref: MIM:617402 "phenotype"
[Term]
id: DI-04975
name: Cutis laxa, autosomal recessive, 2D
def: "A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2D patients exhibit severe hypotonia as well as cardiovascular and neurologic involvement." []
synonym: "Cutis laxa, autosomal recessive, type IID" [UniProt]
xref: MedGen:CN241828
xref: MeSH:D003483
xref: MIM:617403 "phenotype"
[Term]
id: DI-04976
name: Spastic paraplegia 23, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG23 is an autosomal recessive form characterized by childhood-onset of gait difficulties and pigmentary abnormalities, including premature graying of the hair and vitiligo-like or hyperpigmented skin lesions." []
synonym: "Lison syndrome" [UniProt]
synonym: "Spastic paraparesis, vitiligo, premature graying, characteristic facies" [UniProt]
synonym: "Spastic paraplegia with pigmentary abnormalities" [UniProt]
xref: MedGen:C0796019
xref: MeSH:D015419
xref: MIM:270750 "phenotype"
[Term]
id: DI-04977
name: Basan syndrome
def: "An autosomal dominant form of adermatoglyphia associated with congenital facial milia, acral blistering, digital contractures, and nail abnormalities. Adermatoglyphia is defined by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints." []
synonym: "Adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities" [UniProt]
synonym: "Ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease" [UniProt]
xref: MedGen:C0406707
xref: MeSH:D004476
xref: MeSH:D012868
xref: MIM:129200 "phenotype"
[Term]
id: DI-04978
name: Pontocerebellar hypoplasia 7
def: "A form of pontocerebellar hypoplasia, a group of related disorders characterized by underdevelopment of the pons and the cerebellum. Pontocerebellar hypoplasia also causes impaired growth of other parts of the brain, leading to an unusually small head size. PCH7 patients manifest delayed psychomotor development, hypotonia, breathing abnormalities, and gonadal abnormalities." []
xref: MedGen:C3554226
xref: MeSH:D002526
xref: MIM:614969 "phenotype"
[Term]
id: DI-04979
name: Brain malformations with or without urinary tract defects
def: "A syndrome characterized by corpus callosum hypoplasia or agenesis, hydrocephalus or ventricular enlargement, developmental delay, and urinary tract defects." []
xref: MedGen:C3151036
xref: MeSH:D001927
xref: MeSH:D007674
xref: MIM:613735 "phenotype"
[Term]
id: DI-04980
name: Focal cortical dysplasia 2
def: "A form of focal cortical dysplasia, a malformation of cortical development that results in medically refractory epilepsy in the pediatric population and in adults. FCORD2 is a severe form, with onset usually in childhood, characterized by disrupted cortical lamination and specific cytological abnormalities. It is classified in 2 subtypes: type IIA characterized by dysmorphic neurons and lack of balloon cells; type IIB with dysmorphic neurons and balloon cells." []
synonym: "CDT" [UniProt]
synonym: "CDTBC" [UniProt]
synonym: "CDTD" [UniProt]
synonym: "Cortical dysplasia of Taylor" [UniProt]
synonym: "Cortical dysplasia of Taylor with balloon cells" [UniProt]
synonym: "Cortical dysplasia of Taylor without balloon cells" [UniProt]
synonym: "Cortical dysplasia of Taylor, dysplasia only" [UniProt]
synonym: "FCD IIA" [UniProt]
synonym: "FCD IIB" [UniProt]
synonym: "FCD2" [UniProt]
synonym: "FCDT" [UniProt]
synonym: "FCORD2A" [UniProt]
synonym: "FCORD2B" [UniProt]
synonym: "Focal cortical dysplasia of Taylor" [UniProt]
synonym: "Focal cortical dysplasia type 2" [UniProt]
synonym: "Focal cortical dysplasia, type II" [UniProt]
synonym: "Focal cortical dysplasia, type IIA" [UniProt]
synonym: "Focal cortical dysplasia, type IIB" [UniProt]
xref: MedGen:C1846385
xref: MeSH:D001927
xref: MIM:607341 "phenotype"
[Term]
id: DI-04981
name: Thrombocytopenia 3
def: "A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC3 is an autosomal recessive form characterized by onset in infancy." []
xref: MedGen:C2678311
xref: MeSH:D013921
xref: MIM:273900 "phenotype"
[Term]
id: DI-04982
name: 3MC syndrome 3
def: "A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes." []
synonym: "Facial clefting syndrome Gypsy type" [UniProt]
synonym: "Malpuech facial clefting syndrome" [UniProt]
synonym: "Malpuech syndrome" [UniProt]
xref: MedGen:C0796032
xref: MeSH:D003398
xref: MeSH:D005141
xref: MIM:248340 "phenotype"
[Term]
id: DI-04983
name: Retinitis pigmentosa 79
def: "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP79 inheritance is autosomal dominant." []
xref: MedGen:CN242289
xref: MeSH:D012174
xref: MIM:617460 "phenotype"
[Term]
id: DI-04984
name: Bleeding disorder, platelet-type, 21
def: "A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. BDPLT21 patients may have mild to moderate thrombocytopenia." []
xref: MedGen:CN242283
xref: MeSH:D001791
xref: MeSH:D006470
xref: MIM:617443 "phenotype"
[Term]
id: DI-04985
name: Retinitis pigmentosa 78
def: "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP78 inheritance is autosomal recessive." []
xref: MedGen:CN241844
xref: MeSH:D012174
xref: MIM:617433 "phenotype"
[Term]
id: DI-04986
name: Premature ovarian failure 13
def: "An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol." []
xref: MedGen:CN242237
xref: MeSH:D016649
xref: MIM:617442 "phenotype"
[Term]
id: DI-04987
name: Thrombocytopenia, anemia, and myelofibrosis
def: "An autosomal recessive disorder characterized by thrombocytopenia, increased number of giant platelets, and anemia manifesting in early childhood. Bone marrow biopsy shows increased number of megakaryocytes and reticular fibrosis consistent with myelofibrosis." []
xref: MedGen:CN242238
xref: MeSH:D000740
xref: MeSH:D013921
xref: MeSH:D055728
xref: MIM:617441 "phenotype"
[Term]
id: DI-04988
name: Lopes-Maciel-Rodan syndrome
def: "An autosomal recessive neurodevelopmental disorder characterized by developmental regression in infancy, delayed psychomotor development, severe intellectual disability, and cerebral and cerebellar atrophy. Additional features include swallowing problems, dystonia, bradykinesia, and continuous manual stereotypies without chorea. Some patients manifest seizures." []
xref: MedGen:C4479491
xref: MeSH:D065886
xref: MIM:617435 "phenotype"
[Term]
id: DI-04989
name: Intellectual developmental disorder, autosomal recessive 60
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT60 patients display mild intellectual disability, delayed psychomotor development, learning difficulties, and poor overall growth with variable microcephaly." []
xref: MedGen:CN241846
xref: MeSH:D008607
xref: MIM:617432 "phenotype"
[Term]
id: DI-04990
name: Immunoskeletal dysplasia with neurodevelopmental abnormalities
def: "An autosomal recessive disorder characterized by variable skeletal abnormalities and neurodevelopmental defects. Neurologic manifestations include intellectual disability and motor delay. Some patients manifest hypotonia and seizures. Skeletal features include disproportionate short stature, cervical malformations, epiphyseal and metaphyseal dysplasia, and rarely premature craniosynostosis with progressive microcephaly. Severe combined immunodeficiency with a complete absence of T cells is observed in some patients." []
xref: MedGen:CN241841
xref: MeSH:D010009
xref: MeSH:D065886
xref: MIM:617425 "phenotype"
[Term]
id: DI-04991
name: Brachycephaly, trichomegaly, and developmental delay
def: "An autosomal dominant developmental disorder characterized by brachycephaly, ciliary trichomegaly, dysmorphic features of the face and hands, hearing loss, and developmental delay with short stature. Intellectual disability and autism spectrum disorder may be present in some patients." []
synonym: "MacInnes syndrome" [UniProt]
synonym: "MCINS" [UniProt]
xref: MedGen:CN241840
xref: MeSH:D000015
xref: MIM:617412 "phenotype"
[Term]
id: DI-04992
name: Muscular dystrophy, congenital, with cataracts and intellectual disability
def: "An autosomal recessive form of muscular dystrophy with onset in early childhood and characterized by progressive muscle weakness. Almost all patients also have early-onset cataracts and intellectual disability of varying severity. Some patients have seizures." []
xref: MedGen:CN241833
xref: MeSH:D002386
xref: MeSH:D008607
xref: MeSH:D009136
xref: MIM:617404 "phenotype"
[Term]
id: DI-04993
name: Thrombocytopenia-absent radius syndrome
def: "An autosomal recessive disorder characterized by bilateral absence of the radii with the presence of both thumbs, thrombocytopenia, low numbers of megakaryocytes, and bleeding episodes in the first year of life. Thrombocytopenic episodes decrease with age. Skeletal anomalies range from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee." []
synonym: "Absent radii and thrombocytopenia" [UniProt]
synonym: "Radial aplasia-thrombocytopenia syndrome" [UniProt]
synonym: "TAR syndrome" [UniProt]
xref: MedGen:C0175703
xref: MeSH:D013921
xref: MeSH:D038062
xref: MIM:274000 "phenotype"
[Term]
id: DI-04994
name: Craniosynostosis 7
def: "A form of craniosynostosis, a primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability." []
synonym: "Craniosynostosis 7, digenic" [UniProt]
xref: MedGen:CN242220
xref: MeSH:D003398
xref: MIM:617439 "phenotype"
[Term]
id: DI-04995
name: Townes-Brocks syndrome 2
def: "A form of Townes-Brocks syndrome, a rare autosomal dominant disease characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease." []
xref: MedGen:CN243870
xref: MeSH:D000015
xref: MIM:617466 "phenotype"
[Term]
id: DI-04996
name: Jansen-de Vries syndrome
def: "An autosomal dominant neurodevelopmental disorder characterized by mild to severe intellectual disability, psychomotor developmental delay, speech delay, and behavioral manifestations including attention deficit-hyperactivity disorder, autism and anxiety disorders. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold, hypersensitivity to sound, hypotonia, broad-based gait, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet." []
synonym: "IDDGIP" [UniProt]
synonym: "Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold" [UniProt]
xref: MedGen:CN243957
xref: MeSH:D065886
xref: MIM:617450 "phenotype"
[Term]
id: DI-04997
name: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
def: "An autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. Additional features include microcephaly, absent speech, hypotonia, feeding difficulties, structural brain abnormalities, congenital malformations including congenital heart disease, and musculoskeletal features." []
xref: MedGen:CN243958
xref: MeSH:D065886
xref: MIM:617452 "phenotype"
[Term]
id: DI-04998
name: Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
def: "A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC1 is an autosomal recessive severe form with onset in utero. Most affected individuals die in utero. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect." []
synonym: "AMCNMY" [UniProt]
synonym: "Arthrogryposis multiplex congenita, neurogenic, with myelin defect" [UniProt]
xref: MedGen:CN243956
xref: MeSH:D001176
xref: MIM:617468 "phenotype"
[Term]
id: DI-04999
name: Specific granule deficiency 1
def: "An immunologic disorder characterized by recurrent pyogenic infections, defective neutrophil chemotaxis and bactericidal activity, and lack of neutrophil secondary granule proteins. Neutrophils of affected individuals lack lactoferrin and show abnormal nuclear segmentation, bilobed nuclei, low alkaline phosphatase, and increased number of neutrophil mitochondria and ribosomes. SGD1 inheritance can be autosomal dominant or recessive." []
xref: MedGen:C0398593
xref: MeSH:D007960
xref: MIM:245480 "phenotype"
[Term]
id: DI-05000
name: Specific granule deficiency 2
def: "A form of specific granule deficiency, an autosomal recessive disorder characterized by recurrent pyogenic infections, defective neutrophil chemotaxis and bactericidal activity, and lack of neutrophil secondary granule proteins. SGD2 is due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies." []
xref: MedGen:CN244006
xref: MeSH:D007960
xref: MIM:617475 "phenotype"
[Term]
id: DI-05001
name: Structural heart defects and renal anomalies syndrome
def: "An autosomal recessive syndrome characterized by central nervous system, cardiac, renal, and digit abnormalities. Clinical features include ventricular and atrial septal defects, truncus arteriosus, tetralogy of Fallot, partial anomalous pulmonary venous return, renal cysts, renal failure, and generalized edema. Some patients show partial agenesis of corpus callosum." []
xref: MedGen:CN243983
xref: MeSH:D000015
xref: MIM:617478 "phenotype"
[Term]
id: DI-05002
name: 46,XX sex reversal 4
def: "A condition in which male gonads develop in a genetic female (female to male sex reversal)." []
synonym: "46,XX sex reversal SRY-negative" [UniProt]
xref: MedGen:CN244002
xref: MeSH:D058531
xref: MIM:617480 "phenotype"
[Term]
id: DI-05003
name: Adrenal insufficiency, NR5A1-related
def: "A disorder characterized by adrenal insufficiency, muscular hypotonia, decreased sodium and increased potassium levels, elevated ACTH, salt- wasting crisis, prolonged jaundice, hypoglycemia, and vomiting." []
xref: MedGen:CN244003
xref: MeSH:D000309
xref: MIM:612964 "phenotype"
[Term]
id: DI-05004
name: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
def: "An autosomal recessive neurodevelopmental and degenerative disorder characterized by primary microcephaly, profound global developmental delay, and severe intellectual disability. Additional clinical features include dysmorphic features, truncal hypotonia, peripheral spasticity, and lack of independent ambulation or speech acquisition. Brain imaging shows cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination." []
xref: MedGen:CN243994
xref: MeSH:D065886
xref: MIM:617481 "phenotype"
[Term]
id: DI-05005
name: Cardiac valvular dysplasia 1
def: "An autosomal recessive form of congenital heart defects, characterized by valvular malformations involving the pulmonic, tricuspid and mitral valves." []
synonym: "Cardiac valvular defect, developmental" [UniProt]
synonym: "CVDD" [UniProt]
xref: MedGen:C1859330
xref: MeSH:D006349
xref: MIM:212093 "phenotype"
[Term]
id: DI-05006
name: Retinitis pigmentosa with or without skeletal anomalies
def: "An autosomal recessive disease characterized by retinal degeneration, brachydactyly, short stature, craniofacial dysmorphism, and neurologic defects. Retinal defects are consistent with retinitis pigmentosa in most patients. Neurologic manifestations include mild-to-moderate intellectual disability and psychomotor retardation." []
synonym: "Metaphyseal chondrodysplasia with retinitis pigmentosa" [UniProt]
xref: MedGen:C1855188
xref: MeSH:D010009
xref: MeSH:D012174
xref: MIM:250410 "phenotype"
[Term]
id: DI-05007
name: Cleft palate, cardiac defects, and impaired intellectual development
def: "An autosomal dominant disease characterized by multiple congenital malformations, mild-to-severe intellectual disability with poor speech, and delayed psychomotor development. Congenital malformations include heart defects, cleft lip/palate, distally-placed thumbs and toes, and cutaneous syndactyly between the second and third toes." []
synonym: "Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies" [UniProt]
xref: MedGen:C1832950
xref: MeSH:D000015
xref: MIM:600987 "phenotype"
[Term]
id: DI-05008
name: Pancreatic lipase deficiency
def: "An autosomal recessive disorder characterized by exocrine pancreatic failure. Clinical findings include oily/greasy stools from infancy or early childhood, absence of discernible pancreatic disease, and significantly decreased pancreatic lipolytic activity." []
synonym: "Congenital absence of pancreatic lipase" [UniProt]
synonym: "PL deficiency" [UniProt]
xref: MedGen:C3280527
xref: MeSH:D008052
xref: MIM:614338 "phenotype"
[Term]
id: DI-05009
name: Intellectual developmental disorder, X-linked 106
def: "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations." []
synonym: "MRX106" [UniProt]
xref: MedGen:CN270121
xref: MeSH:D038901
xref: MIM:300997 "phenotype"
[Term]
id: DI-05010
name: Neurodevelopmental disorder with involuntary movements
def: "A neurodevelopmental disorder manifesting with a wide range of clinical symptoms. Clinical features range from severe motor and cognitive impairment with marked choreoathetosis, self-injurious behavior and epileptic encephalopathy, to a milder phenotype featuring moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia, and mild epilepsy. Hyperkinetic movements are often exacerbated by specific triggers, such as illness, emotion and high ambient temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum." []
xref: MedGen:CN244050
xref: MeSH:D065886
xref: MIM:617493 "phenotype"
[Term]
id: DI-05011
name: Noonan syndrome-like disorder with loose anagen hair 2
def: "A syndrome characterized by Noonan dysmorphic features such as macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck, pectus anomalies, in association with pluckable, sparse, thin and slow-growing hair." []
xref: MedGen:CN244048
xref: MeSH:D019465
xref: MIM:617506 "phenotype"
[Term]
id: DI-05012
name: PEHO-like syndrome
def: "An autosomal recessive syndrome characterized by microcephaly and moderately severe hypotonia manifesting at birth, seizures that progress into infantile spasms with hypsarrhythmia, brain atrophy with bilateral polymicrogyria and pachygyria, thin corpus callosum, and mild reduction in cerebellar vermis volume. Patients also display optic atrophy, severe cognitive delay, puffiness of the maxillary region of the face, and edema of the dorsum of the hands and feet." []
synonym: "PEHO syndrome-like" [UniProt]
xref: MedGen:C1850056
xref: MeSH:D009421
xref: MeSH:D009896
xref: MeSH:D013036
xref: MIM:617507 "phenotype"
[Term]
id: DI-05013
name: Immunodeficiency 52
def: "An autosomal recessive primary immunodeficiency characterized by T- cell abnormalities, resulting in severe combined immunodeficiency, autoimmune disease, progressive lymphopenia and hypogammaglobulinemia, and lymphoproliferation with splenomegaly. Patients develop severe recurrent infections from infancy." []
xref: MedGen:CN244051
xref: MeSH:D007153
xref: MIM:617514 "phenotype"
[Term]
id: DI-05014
name: Stankiewicz-Isidor syndrome
def: "A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild dysmorphism, ophthalmologic anomalies, feeding difficulties, deafness, and variable congenital malformations of the cardiac and/or urogenital systems." []
xref: MedGen:CN249119
xref: MeSH:D065886
xref: MIM:617516 "phenotype"
[Term]
id: DI-05015
name: Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
def: "An autosomal recessive disorder characterized by congenital myopathy with hypotonia and muscle weakness manifesting after birth and progressing to generalized muscle atrophy, central deafness with absent brainstem-evoked potentials, and a combined axonal and demyelinating motor neuropathy." []
synonym: "CMND" [UniProt]
synonym: "Myopathy, congenital, with neuropathy and deafness" [UniProt]
xref: MedGen:CN251650
xref: MeSH:D009468
xref: MIM:617519 "phenotype"
[Term]
id: DI-05016
name: Microcephaly 18, primary, autosomal dominant
def: "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH18 affected individuals manifest microcephaly with mild to moderate intellectual disability." []
xref: MedGen:CN251651
xref: MeSH:D008831
xref: MIM:617520 "phenotype"
[Term]
id: DI-05017
name: Neurodevelopmental disorder with midbrain and hindbrain malformations
def: "An autosomal recessive neurodevelopmental disorder characterized by intellectual disability, speech delay, mild microcephaly, midbrain- hindbrain malformations, and variable dysmorphic features." []
xref: MedGen:CN258423
xref: MeSH:D065886
xref: MIM:617523 "phenotype"
[Term]
id: DI-05018
name: Erythrokeratodermia variabilis et progressiva 2
def: "A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases." []
xref: MedGen:CN258420
xref: MeSH:D056266
xref: MIM:617524 "phenotype"
[Term]
id: DI-05019
name: Erythrokeratodermia variabilis et progressiva 3
def: "A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases." []
xref: MedGen:CN258421
xref: MeSH:D056266
xref: MIM:617525 "phenotype"
[Term]
id: DI-05020
name: Erythrokeratodermia variabilis et progressiva 4
def: "A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases." []
xref: MedGen:CN258422
xref: MeSH:D056266
xref: MIM:617526 "phenotype"
[Term]
id: DI-05021
name: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
def: "An autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, spastic quadriparesis, global developmental delay, profound intellectual disability and severely impaired or absent motor function. More variable features include seizures and optic atrophy." []
xref: MedGen:CN265047
xref: MeSH:D065886
xref: MIM:617527 "phenotype"
[Term]
id: DI-05022
name: Intellectual developmental disorder with neuropsychiatric features
def: "An autosomal recessive disorder characterized by moderate to severe intellectual disability, epilepsy, and variable neuropsychiatric features, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphism may also be present." []
xref: MedGen:CN277733
xref: MeSH:D001523
xref: MIM:617532 "phenotype"
[Term]
id: DI-05023
name: Rahman syndrome
def: "An autosomal dominant syndrome characterized by intellectual disability and overgrowth manifesting as increased birth length, height, weight, and/or head circumference." []
xref: MedGen:CN280277
xref: MeSH:D006130
xref: MeSH:D008607
xref: MIM:617537 "phenotype"
[Term]
id: DI-05024
name: Retinal dystrophy with or without macular staphyloma
def: "An ocular disorder characterized by decreased vision which worsen over time, and dystrophic changes in the retina, such as retinal pigment epithelium mottling and vessel narrowing. Macular staphyloma, without high myopia, is present in some patients." []
xref: MedGen:CN270122
xref: MeSH:D058499
xref: MIM:617547 "phenotype"
[Term]
id: DI-05025
name: Spondylometaphyseal dysplasia, axial
def: "A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDAX is characterized by metaphyseal changes of truncal-juxtatruncal bones, including the proximal femora. Main clinical features are postnatal growth failure, rhizomelic short stature in early childhood evolving into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and function rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on fundoscopic examination and cone-rod dystrophy on electroretinogram. The radiological hallmarks include short ribs with flared, cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora." []
xref: MedGen:C1865695
xref: MeSH:D010009
xref: MIM:602271 "phenotype"
[Term]
id: DI-05026
name: Spermatogenic failure 19
def: "An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF19 patients have spermatozoa with absent, short, coiled, bent, and/or irregular-caliber flagella, which impair sperm motility." []
xref: MedGen:CN349872
xref: MeSH:D007248
xref: MIM:617592 "phenotype"
[Term]
id: DI-05027
name: Spermatogenic failure 18
def: "An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF18 patients present with primary infertility and multiple morphological abnormalities of sperm flagella that result in impaired sperm mobility. Abnormalities include absent, short, coiled, bent, and irregular flagella. SPGF18 inheritance is autosomal recessive." []
xref: MedGen:CN337166
xref: MeSH:D007248
xref: MIM:617576 "phenotype"
[Term]
id: DI-05028
name: Spermatogenic failure 20
def: "An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF20 patients have spermatozoa with absent, short, coiled, bent, and/or irregular-caliber flagella, which impair sperm motility." []
xref: MedGen:CN349873
xref: MeSH:D007248
xref: MIM:617593 "phenotype"
[Term]
id: DI-05029
name: Ciliary dyskinesia, primary, 37
def: "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left- right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD37 inheritance is autosomal recessive." []
synonym: "Ciliary dyskinesia, primary, 37, with or without situs inversus" [UniProt]
xref: MedGen:CN337167
xref: MeSH:D007619
xref: MIM:617577 "phenotype"
[Term]
id: DI-05030
name: Intellectual developmental disorder, X-linked, syndromic 35
def: "A syndrome characterized by intellectual deficit, delayed psychomotor development, poor speech, and dysmorphic features." []
xref: MedGen:CN298079
xref: MeSH:D038901
xref: MIM:300998 "phenotype"
[Term]
id: DI-05031
name: Gaze palsy, familial horizontal, with progressive scoliosis, 2, with impaired intellectual development
def: "An autosomal recessive neurologic disorder characterized by global developmental delay, delayed walking, intellectual disability, horizontal gaze palsy, and childhood-onset progressive scoliosis." []
xref: MedGen:CN292981
xref: MeSH:D012600
xref: MeSH:D015835
xref: MIM:617542 "phenotype"
[Term]
id: DI-05032
name: Gabriele-de Vries syndrome
def: "An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability. Most patients have behavioral and feeding problems, movement abnormalities, mild distal skeletal anomalies, and dysmorphic facial features." []
xref: MedGen:CN303159
xref: MeSH:D065886
xref: MIM:617557 "phenotype"
[Term]
id: DI-05033
name: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
def: "An autosomal recessive neurodegenerative disorder characterized by early-onset hypotonia which progresses to a pyramidal syndrome with ataxia, spasticity, hyperreflexia, weakness and loss of ambulation. Brain imaging shows cerebellar atrophy and hypomyelinating leukodystrophy." []
xref: MedGen:CN303160
xref: MeSH:D020279
xref: MIM:617560 "phenotype"
[Term]
id: DI-05034
name: Cohen-Gibson syndrome
def: "An autosomal dominant overgrowth disorder characterized by accelerated osseous maturation, advanced bone age, skeletal abnormalities including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, scoliosis, cervical spine anomalies, dysmorphic facial features, and variable intellectual disability." []
xref: MedGen:CN314204
xref: MeSH:D001847
xref: MIM:617561 "phenotype"
[Term]
id: DI-05035
name: Meckel syndrome 13
def: "A form of Meckel syndrome, a disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly." []
xref: MedGen:CN317534
xref: MeSH:D002925
xref: MeSH:D004677
xref: MeSH:D007690
xref: MIM:617562 "phenotype"
[Term]
id: DI-05036
name: Joubert syndrome 29
def: "A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS29 inheritance is autosomal recessive." []
xref: MedGen:CN317537
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:617562 "phenotype"
[Term]
id: DI-05037
name: Orofaciodigital syndrome 16
def: "A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD16 features include postaxial polydactyly of the hands and feet, multiple tongue cysts, and dysmorphic features, including frontal narrowing, short palpebral fissures, flat nasal bridge, retrognathia, and low-set ears. Neurologic features include delayed psychomotor development and severe cognitive impairment. OFD16 inheritance is autosomal recessive." []
synonym: "OFDS XVI" [UniProt]
synonym: "Oral-facial-digital syndrome, type XVI" [UniProt]
synonym: "Orofaciodigital syndrome XVI" [UniProt]
xref: MedGen:CN317535
xref: MeSH:D009958
xref: MIM:617563 "phenotype"
[Term]
id: DI-05038
name: Meier-Gorlin syndrome 8
def: "A form of Meier-Gorlin syndrome, a syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. MGORS8 inheritance is autosomal recessive." []
xref: MedGen:CN314201
xref: MeSH:D006130
xref: MeSH:D008844
xref: MIM:617564 "phenotype"
[Term]
id: DI-05039
name: Perrault syndrome 6
def: "A form of Perrault syndrome, a sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. PRLTS6 inheritance is autosomal recessive." []
xref: MedGen:CN314202
xref: MeSH:D006319
xref: MeSH:D023961
xref: MIM:617565 "phenotype"
[Term]
id: DI-05040
name: Ichthyosis, congenital, autosomal recessive 14
def: "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs." []
xref: MedGen:CN317536
xref: MeSH:D017490
xref: MIM:617571 "phenotype"
[Term]
id: DI-05041
name: Ichthyosis, congenital, autosomal recessive 13
def: "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs." []
xref: MedGen:CN321864
xref: MeSH:D017490
xref: MIM:617574 "phenotype"
[Term]
id: DI-05042
name: Vitreoretinopathy, exudative 7
def: "A form of exudative vitreoretinopathy, a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery." []
xref: MedGen:CN321863
xref: MeSH:D012164
xref: MIM:617572 "phenotype"
[Term]
id: DI-05043
name: RENI syndrome
def: "An autosomal recessive, steroid-resistant nephrotic syndrome that manifests in infancy or early childhood, and progresses to end-stage renal failure within a few years. Additional clinical features include ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects. In rare cases, patients present with isolated primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise." []
synonym: "Nephrotic syndrome, type 14" [UniProt]
synonym: "NPHS14" [UniProt]
synonym: "Sphingosine phosphate lyase insufficiency syndrome" [UniProt]
synonym: "SPLIS" [UniProt]
xref: MedGen:CN339707
xref: MeSH:D009404
xref: MIM:617575 "phenotype"
[Term]
id: DI-05044
name: Spinocerebellar ataxia, autosomal recessive, 25
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR25 patients manifest delayed psychomotor development with delayed walking, truncal ataxia, dysmetria, and nystagmus, Cerebellar hypoplasia is seen on brain imaging." []
xref: MedGen:CN349871
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:617584 "phenotype"
[Term]
id: DI-05045
name: Immunodeficiency 53
def: "An autosomal recessive primary immunodeficiency apparent from early infancy and resulting in recurrent infections, severe autoimmune skin disease rheumatoid arthritis, and failure to thrive. Immunologic workup shows increased CD4+/CD8+ ratio, impaired T-cell proliferative response to multiple antigen, T-cell developmental and functional defects, and impaired ability to produce specific immunoglobulins." []
xref: MedGen:CN347330
xref: MeSH:D007153
xref: MIM:617585 "phenotype"
[Term]
id: DI-05046
name: Birk-Landau-Perez syndrome
def: "An autosomal recessive syndrome characterized by early-childhood onset of different combinations of intellectual disability, muscle weakness, camptocormia, oculomotor apraxia, and nephropathy." []
xref: MedGen:CN353477
xref: MeSH:D000015
xref: MIM:617595 "phenotype"
[Term]
id: DI-05047
name: Maleylacetoacetate isomerase deficiency
def: "An autosomal recessive inborn error of metabolism characterized by mild elevations in succinylacetone in blood and urine, usually identified by newborn screening. Liver function and coagulation are normal. MAAID is a benign disorder." []
synonym: "Benign hypersuccinylacetonemia" [UniProt]
synonym: "BHSA" [UniProt]
synonym: "Hypersuccinylacetonemia, mild" [UniProt]
synonym: "MAAI deficiency" [UniProt]
synonym: "MHSA" [UniProt]
xref: MedGen:CN351187
xref: MeSH:D008661
xref: MIM:617596 "phenotype"
[Term]
id: DI-05048
name: Mosaic variegated aneuploidy syndrome 3
def: "A form of mosaic variegated aneuploidy syndrome, a severe disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. MVA3 inheritance is autosomal recessive." []
xref: MedGen:CN351188
xref: MeSH:D025063
xref: MIM:617598 "phenotype"
[Term]
id: DI-05049
name: Carey-Fineman-Ziter syndrome 1
def: "An autosomal recessive multisystem disorder characterized by hypotonia, bilateral congenital facial palsy with impairment of ocular abduction (Moebius sequence), micrognathia, glossoptosis and high- arched or cleft palate (Pierre Robin complex), delayed motor milestones, and failure to thrive." []
synonym: "CFZ syndrome" [UniProt]
synonym: "Congenital non-progressive myopathy with Moebius and Robin sequences" [UniProt]
synonym: "Myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence" [UniProt]
xref: MedGen:C1850746
xref: MeSH:D009135
xref: MeSH:D010855
xref: MeSH:D020331
xref: MIM:254940 "phenotype"
[Term]
id: DI-05050
name: Spinocerebellar ataxia 37
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA37 is an autosomal dominant form characterized by adult-onset of slowly progressive gait instability, frequent falls, and dysarthria associated with cerebellar atrophy on brain imaging." []
xref: MedGen:C3889636
xref: MeSH:D020754
xref: MIM:615945 "phenotype"
[Term]
id: DI-05051
name: Joubert syndrome 30
def: "A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS30 inheritance is autosomal recessive." []
xref: MedGen:CN399089
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:617622 "phenotype"
[Term]
id: DI-05052
name: Polydactyly, postaxial, A7
def: "A form of postaxial polydactyly, a condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well- formed and articulates with the fifth or a sixth metacarpal/metatarsal. PAPA7 is an autosomal recessive condition characterized by postaxial polydactyly restricted to the feet." []
synonym: "Polydactyly, postaxial, type A7" [UniProt]
xref: MedGen:CN417139
xref: MeSH:D017689
xref: MIM:617642 "phenotype"
[Term]
id: DI-05053
name: Microcephaly-micromelia syndrome
def: "A severe autosomal recessive disorder characterized by intrauterine growth restriction, marked microcephaly, craniofacial anomalies, skeletal dysplasia, and variable malformations of the limbs, particularly the upper limbs. It usually results in death in utero or in the perinatal period." []
xref: MedGen:C1855079
xref: MeSH:D008831
xref: MeSH:D017880
xref: MIM:251230 "phenotype"
[Term]
id: DI-05054
name: Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
def: "An autosomal recessive, congenital disease characterized by severe hydranencephaly with multinucleated neurons, renal aplasia or dysplasia, and hypoplastic kidneys. Hydranencephaly is an anomaly leading to replacement of the cerebral hemispheres with a fluid-filled cyst. MARCH results in death in utero or in the perinatal period." []
synonym: "Hydranencephaly with renal aplasia-dysplasia" [UniProt]
xref: MedGen:C1856053
xref: MeSH:D006832
xref: MeSH:D007674
xref: MIM:236500 "phenotype"
[Term]
id: DI-05055
name: Deafness, autosomal recessive, 108
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN427418
xref: MeSH:D006319
xref: MIM:617654 "phenotype"
[Term]
id: DI-05056
name: Deafness, autosomal recessive, 106
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN414511
xref: MeSH:D006319
xref: MIM:617637 "phenotype"
[Term]
id: DI-05057
name: Deafness, autosomal recessive, 107
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN417138
xref: MeSH:D006319
xref: MIM:617639 "phenotype"
[Term]
id: DI-05058
name: Deafness, autosomal dominant, 71
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA71 is characterized by bilateral mild to moderate hearing loss before age 20 years, which gradually progresses to severe to profound hearing loss." []
xref: MedGen:CN381219
xref: MeSH:D006319
xref: MIM:617605 "phenotype"
[Term]
id: DI-05059
name: Deafness, autosomal dominant, 72
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA72 primarily affects the middle frequencies. It gradually progresses to whole-frequency hearing loss." []
xref: MedGen:CN381220
xref: MeSH:D006319
xref: MIM:617606 "phenotype"
[Term]
id: DI-05060
name: Developmental and epileptic encephalopathy 55
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE55 is an autosomal recessive condition." []
synonym: "EIEE55" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 55" [UniProt]
synonym: "Glycosylphosphatidylinositol biosynthesis defect 14" [UniProt]
synonym: "GPIBD14" [UniProt]
xref: MedGen:CN368511
xref: MeSH:D013036
xref: MIM:617599 "phenotype"
[Term]
id: DI-05061
name: Intellectual developmental disorder, autosomal dominant 45
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD45 patients manifest developmental delay, variable intellectual disability, and behavioral disorders, including autistic features, attention deficit, and hyperactivity." []
xref: MedGen:CN368509
xref: MeSH:D008607
xref: MIM:617600 "phenotype"
[Term]
id: DI-05062
name: Intellectual developmental disorder, autosomal dominant 46
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD46 patients manifest developmental delay and mild to moderate intellectual disability." []
xref: MedGen:CN371052
xref: MeSH:D008607
xref: MIM:617601 "phenotype"
[Term]
id: DI-05063
name: Intellectual developmental disorder, autosomal dominant 47
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD47 patients manifest developmental delay and mild to moderate intellectual disability, usually with delayed speech." []
xref: MedGen:CN429988
xref: MeSH:D008607
xref: MIM:617635 "phenotype"
[Term]
id: DI-05064
name: Congenital heart defects and skeletal malformations syndrome
def: "An autosomal dominant disorder characterized by congenital heart disease with atrial and ventricular septal defects, variable skeletal abnormalities, and failure to thrive. Skeletal defects include pectus excavatum, scoliosis, and finger contractures. Some patient exhibit joint laxity." []
xref: MedGen:CN368510
xref: MeSH:D001848
xref: MeSH:D006330
xref: MIM:617602 "phenotype"
[Term]
id: DI-05065
name: Microcephaly, short stature, and limb abnormalities
def: "An autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Mild intellectual disability and developmental delay is observed in some patients." []
xref: MedGen:CN373593
xref: MeSH:D004392
xref: MeSH:D008831
xref: MeSH:D017880
xref: MIM:617604 "phenotype"
[Term]
id: DI-05066
name: Amelogenesis imperfecta 3B
def: "An autosomal dominant form of amelogenesis imperfecta, a defect of enamel formation. AI3B is characterized by hypomineralized enamel that has reduced tickness and exhibits structural defects." []
synonym: "Amelogenesis imperfecta, type IIIB" [UniProt]
xref: MedGen:CN373594
xref: MeSH:D000567
xref: MIM:617607 "phenotype"
[Term]
id: DI-05067
name: Nephrotic syndrome 15
def: "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. NPHS15 is an autosomal recessive form with onset in the first months of life. Disease severity is variable. Some patients show rapid progression to end-stage renal failure." []
synonym: "Nephrotic syndrome, type 15" [UniProt]
xref: MedGen:CN388854
xref: MeSH:D009404
xref: MIM:617609 "phenotype"
[Term]
id: DI-05068
name: Spinocerebellar ataxia, autosomal recessive, 26
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR26 is a progressive disease characterized by gait and limb ataxia, loss of independent ambulation, oculomotor apraxia, and peripheral neuropathy with distal muscle weakness and areflexia." []
xref: MedGen:CN417133
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:617633 "phenotype"
[Term]
id: DI-05069
name: Polycystic kidney disease 5
def: "A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts may also occur in other organs, particularly the liver. PKD5 inheritance is autosomal recessive." []
xref: MedGen:CN381221
xref: MeSH:D007690
xref: MIM:617610 "phenotype"
[Term]
id: DI-05070
name: Multiple mitochondrial dysfunctions syndrome 5
def: "An autosomal recessive, severe disorder characterized by early onset neurological deterioration, seizures, cerebral and cerebellar leukodystrophy, dysmyelination, cortical migrational abnormalities, lactic acidosis and early demise." []
xref: MedGen:CN388855
xref: MeSH:D028361
xref: MIM:617613 "phenotype"
[Term]
id: DI-05071
name: Skraban-Deardorff syndrome
def: "An autosomal dominant syndrome characterized by psychomotor developmental delay, intellectual disability with delayed speech, febrile and non-febrile seizures, abnormal gait, and facial dysmorphism. Facial features include a prominent maxilla and upper lip that readily reveal the upper gingiva, widely spaced teeth, and a broad nasal tip." []
synonym: "Intellectual disability with seizures, abnormal gait, and distinctive facial features" [UniProt]
xref: MedGen:CN399088
xref: MeSH:D008607
xref: MIM:617616 "phenotype"
[Term]
id: DI-05072
name: Fibromatosis, gingival, 5
def: "An autosomal dominant form of hereditary gingival fibromatosis, a rare condition characterized by a slow, progressive overgrowth of the gingiva. The excess gingival tissue can cover part of or the entire crown, and can result in diastemas, teeth displacement, or retention of primary or impacted teeth." []
synonym: "Fibromatosis, gingival, hereditary, 5" [UniProt]
synonym: "GGF5" [UniProt]
synonym: "HGF5" [UniProt]
xref: MedGen:CN399090
xref: MeSH:D005351
xref: MIM:617626 "phenotype"
[Term]
id: DI-05073
name: Schizophrenia 19
def: "A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder." []
synonym: "Schizophrenia 19 with or without an affective disorder" [UniProt]
xref: MedGen:CN404275
xref: MeSH:D012559
xref: MIM:617629 "phenotype"
[Term]
id: DI-05074
name: Immunodeficiency 11B with atopic dermatitis
def: "An autosomal dominant disorder of immune dysfunction characterized by onset of moderate to severe atopic dermatitis in early childhood. Some patients may have recurrent infections and other variable immune abnormalities. Laboratory studies show defects in T-cell activation, increased IgE, and eosinophilia." []
synonym: "Atopic dermatitis, elevated IgE, and eosinophilia" [UniProt]
xref: MedGen:CN417134
xref: MeSH:D007153
xref: MIM:617638 "phenotype"
[Term]
id: DI-05075
name: Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
def: "An autosomal dominant disorder characterized by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear. Most patients have hearing loss, and some may have global developmental delay." []
xref: MedGen:CN417140
xref: MeSH:D014564
xref: MIM:617641 "phenotype"
[Term]
id: DI-05076
name: Cerebellar atrophy, developmental delay, and seizures
def: "An autosomal recessive disease characterized by epilepsy, developmental delay and severe cerebellar atrophy." []
xref: MedGen:CN424851
xref: MeSH:D004827
xref: MeSH:D065886
xref: MIM:617643 "phenotype"
[Term]
id: DI-05077
name: Spermatogenic failure 21
def: "An infertility disorder caused by spermatogenesis defects and characterized by acephalic spermatozoa in the semen of affected individuals. SPGF21 inheritance is autosomal recessive." []
xref: MedGen:CN424852
xref: MeSH:D007248
xref: MIM:617644 "phenotype"
[Term]
id: DI-05078
name: Anencephaly 1
def: "An extreme form of neural tube defect resulting in the absence of brain tissues, and death in utero or perinatally. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed. ANPH1 inheritance is autosomal recessive." []
synonym: "Anencephalus" [UniProt]
synonym: "ANPH" [UniProt]
xref: MedGen:C0002902
xref: MeSH:D000757
xref: MIM:206500 "phenotype"
[Term]
id: DI-05079
name: Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy
def: "An autosomal recessive disease characterized by abdominal pain and diarrhea, primary intestinal lymphangiectasia, edema due to hypoproteinemia, malabsorption, and less frequently, bowel inflammation, recurrent infections, and angiopathic thromboembolic disease. Patients' T lymphocytes show increased complement activation causing surface deposition of complement and the generation of soluble C5a." []
xref: MedGen:C0033680
xref: MeSH:D011504
xref: MeSH:D013927
xref: MIM:226300 "phenotype"
[Term]
id: DI-05080
name: Achromatopsia 5
def: "A form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. ACHM5 inheritance is autosomal recessive." []
xref: MedGen:C2751309
xref: MeSH:D003117
xref: MIM:613093 "phenotype"
[Term]
id: DI-05081
name: HELIX syndrome
def: "An autosomal recessive disease characterized by congenital heat intolerance, generalized anhidrosis, inability to produce tears, dry mouth, electrolyte imbalance, and ichthyosis." []
synonym: "Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia" [UniProt]
xref: MedGen:CN469329
xref: MeSH:D000015
xref: MIM:617671 "phenotype"
[Term]
id: DI-05082
name: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
def: "An autosomal recessive disorder characterized by severe encephalopathy with neonatal onset, metabolic features including lactic acidosis, little or no psychomotor development, and brain abnormalities including cerebral atrophy, cysts, and white matter abnormalities." []
synonym: "Lipoyltransferase 2 deficiency" [UniProt]
synonym: "LIPT2D" [UniProt]
xref: MedGen:CN469328
xref: MeSH:D020739
xref: MIM:617668 "phenotype"
[Term]
id: DI-05083
name: Spermatogenic failure 22
def: "An infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia." []
xref: MedGen:CN502747
xref: MeSH:D007248
xref: MIM:617706 "phenotype"
[Term]
id: DI-05084
name: Pontocerebellar hypoplasia 11
def: "A non-degenerative form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH11 features include severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia. PCH11 inheritance is autosomal recessive." []
synonym: "Pontocerebellar hypoplasia, type 11" [UniProt]
xref: MedGen:CN502750
xref: MeSH:D002526
xref: MIM:617695 "phenotype"
[Term]
id: DI-05085
name: Spermatogenic failure 23
def: "An infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia." []
xref: MedGen:CN502748
xref: MeSH:D007248
xref: MIM:617707 "phenotype"
[Term]
id: DI-05086
name: Myopathy, mitochondrial, and ataxia
def: "A neuromuscular disorder characterized by muscle weakness and atrophy, ataxia, poor growth, delayed motor development, dysdiadochokinesia, dysmetria and additional neurologic features. Some patients show skeletal and endocrine anomalies, as well as behavioral psychiatric manifestations. MMYAT transmission pattern is consistent with autosomal dominant inheritance in some families, and autosomal recessive inheritance in others." []
xref: MedGen:CN484737
xref: MeSH:D009468
xref: MIM:617675 "phenotype"
[Term]
id: DI-05087
name: Pituitary adenoma 5, multiple types
def: "A form of pituitary adenoma, a neoplasm of the pituitary gland and one of the most common neuroendocrine tumors. Pituitary adenomas are clinically classified as functional and non-functional tumors, and manifest with a variety of features, including local invasion of surrounding structures and excessive hormone secretion. Functional pituitary adenomas are further classified by the type of hormone they secrete: growth hormone (GH)-secreting, prolactin (PRL)-secreting, adrenocorticotropin (ACTH)-secreting, thyroid-stimulating hormone (TSH)-secreting, and plurihormonal (GH and TSH) tumors. Familial and sporadic forms have been reported. The transmission pattern of familial PITA5 is consistent with autosomal dominant inheritance with reduced penetrance." []
xref: MedGen:CN432550
xref: MeSH:D010911
xref: MIM:617540 "phenotype"
[Term]
id: DI-05088
name: Pituitary adenoma 3, multiple types
def: "A form of pituitary adenoma, a neoplasm of the pituitary gland and one of the most common neuroendocrine tumors. Pituitary adenomas are clinically classified as functional and non-functional tumors, and manifest with a variety of features, including local invasion of surrounding structures and excessive hormone secretion. Functional pituitary adenomas are further classified by the type of hormone they secrete: growth hormone (GH)-secreting, prolactin (PRL)-secreting, adrenocorticotropin (ACTH)-secreting, thyroid-stimulating hormone (TSH)-secreting, and plurihormonal (GH and TSH) tumors. Familial and sporadic forms have been reported." []
xref: MedGen:CN495005
xref: MeSH:D010911
xref: MIM:617686 "phenotype"
[Term]
id: DI-05089
name: Deafness, autosomal dominant, 73
def: "A form of non-syndromic hearing loss characterized by mild to severe bilateral symptoms with variable age of onset from early childhood to the third decade." []
xref: MedGen:CN461628
xref: MeSH:D034381
xref: MIM:617663 "phenotype"
[Term]
id: DI-05090
name: Developmental and epileptic encephalopathy 56
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE56 is an autosomal dominant condition." []
synonym: "EIEE56" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 56" [UniProt]
xref: MedGen:CN477042
xref: MeSH:D013036
xref: MIM:617665 "phenotype"
[Term]
id: DI-05091
name: Spinocerebellar ataxia 44
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA44 is a slowly progressive, autosomal dominant form." []
xref: MedGen:CN492437
xref: MeSH:D020754
xref: MIM:617691 "phenotype"
[Term]
id: DI-05092
name: Ovarian dysgenesis 5
def: "A disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG5 is an autosomal recessive condition." []
xref: MedGen:CN492436
xref: MeSH:D023961
xref: MIM:617690 "phenotype"
[Term]
id: DI-05093
name: Al Kaissi syndrome
def: "An autosomal recessive developmental disorder characterized by growth retardation, spine malformation, facial dysmorphisms, and developmental delay." []
synonym: "Growth retardation, spine malformation, dysmorphic facies, and developmental delay" [UniProt]
xref: MedGen:CN502749
xref: MeSH:D000015
xref: MIM:617694 "phenotype"
[Term]
id: DI-05094
name: Vertebral, cardiac, renal, and limb defects syndrome 1
def: "An autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects." []
synonym: "3-hydroxyanthranilic acidemia" [UniProt]
synonym: "Congenital NAD deficiency disorder 1" [UniProt]
xref: MedGen:CN482173
xref: MeSH:D000015
xref: MIM:617660 "phenotype"
[Term]
id: DI-05095
name: Vertebral, cardiac, renal, and limb defects syndrome 2
def: "An autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects." []
xref: MedGen:CN482174
xref: MeSH:D000015
xref: MIM:617661 "phenotype"
[Term]
id: DI-05096
name: Joint laxity, short stature, and myopia
def: "An autosomal recessive disease characterized by generalized joint laxity, joint dislocation, pectus carinatum, short stature, and severe myopia with retinal detachment." []
xref: MedGen:CN453922
xref: MeSH:D004392
xref: MeSH:D007592
xref: MeSH:D009216
xref: MIM:617662 "phenotype"
[Term]
id: DI-05097
name: Combined oxidative phosphorylation deficiency 32
def: "An autosomal recessive disorder due to deficiency of mitochondrial respiratory chain complexes, I, III and IV, and characterized by delayed psychomotor development and neurodevelopmental regression. Additional variable symptoms include poor or absent speech, inability to walk, and abnormal movements." []
xref: MedGen:CN469327
xref: MeSH:D028361
xref: MIM:617664 "phenotype"
[Term]
id: DI-05098
name: Fraser syndrome 2
def: "A form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities." []
xref: MedGen:CN464191
xref: MeSH:D058497
xref: MIM:617666 "phenotype"
[Term]
id: DI-05099
name: Fraser syndrome 3
def: "A form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities." []
xref: MedGen:CN464192
xref: MeSH:D058497
xref: MIM:617667 "phenotype"
[Term]
id: DI-05100
name: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity
def: "An autosomal recessive, progressive encephalopathy characterized by central nervous system atrophy and dysfunction, spasticity, microcephaly, global developmental delay, and hearing loss." []
xref: MedGen:CN474476
xref: MeSH:D001927
xref: MIM:617669 "phenotype"
[Term]
id: DI-05101
name: Neurodegeneration, childhood-onset, with brain atrophy
def: "An autosomal dominant neurodegenerative disease with onset in childhood, characterized by progressive cortical atrophy, developmental delay, developmental regression, loss of motor skills and ambulation, absence of language, and intellectual disability." []
xref: MedGen:CN469330
xref: MeSH:D019636
xref: MIM:617672 "phenotype"
[Term]
id: DI-05102
name: Pilarowski-Bjornsson syndrome
def: "An autosomal dominant disorder characterized by developmental delay, speech apraxia, intellectual disability, autism, and facial dysmorphic features. Some patients may have seizures." []
synonym: "Developmental delay and speech apraxia with or without seizures" [UniProt]
xref: MedGen:CN482172
xref: MeSH:D065886
xref: MIM:617682 "phenotype"
[Term]
id: DI-05103
name: Blepharocheilodontic syndrome 1
def: "A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals." []
synonym: "BCD SYNDROME" [UniProt]
synonym: "BCDS" [UniProt]
synonym: "Blepharocheilodontic syndrome" [UniProt]
synonym: "Clefting, ectropion, and conical teeth" [UniProt]
synonym: "Ectropion, inferior, with cleft lip and/or palate" [UniProt]
synonym: "Elschnig syndrome" [UniProt]
synonym: "Lagophthalmia with bilateral cleft lip and palate" [UniProt]
xref: MedGen:C1861536
xref: MeSH:D002972
xref: MeSH:D005141
xref: MeSH:D014071
xref: MIM:119580 "phenotype"
[Term]
id: DI-05104
name: Blepharocheilodontic syndrome 2
def: "A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals." []
xref: MedGen:CN479606
xref: MeSH:D002972
xref: MeSH:D005141
xref: MeSH:D014071
xref: MIM:617681 "phenotype"
[Term]
id: DI-05105
name: Galloway-Mowat syndrome 2, X-linked
def: "A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood." []
xref: MedGen:CN570502
xref: MeSH:D008831
xref: MeSH:D009404
xref: MeSH:D009422
xref: MIM:301006 "phenotype"
[Term]
id: DI-05106
name: Galloway-Mowat syndrome 3
def: "A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood." []
xref: MedGen:CN570505
xref: MeSH:D008831
xref: MeSH:D009404
xref: MeSH:D009422
xref: MIM:617729 "phenotype"
[Term]
id: DI-05107
name: Galloway-Mowat syndrome 4
def: "A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood." []
xref: MedGen:CN570506
xref: MeSH:D008831
xref: MeSH:D009404
xref: MeSH:D009422
xref: MIM:617730 "phenotype"
[Term]
id: DI-05108
name: Galloway-Mowat syndrome 5
def: "A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood." []
xref: MedGen:CN570507
xref: MeSH:D008831
xref: MeSH:D009404
xref: MeSH:D009422
xref: MIM:617731 "phenotype"
[Term]
id: DI-05109
name: 3-methylglutaconic aciduria 9
def: "An autosomal recessive disease characterized by early-onset seizures, severely delayed psychomotor development and intellectual disability. Patients have hypotonia or spasticity, and laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria." []
synonym: "3-methylglutaconic aciduria, type IX" [UniProt]
xref: MedGen:CN510468
xref: MeSH:D008661
xref: MIM:617698 "phenotype"
[Term]
id: DI-05110
name: Neurodevelopmental disorder with microcephaly, ataxia, and seizures
def: "An autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, seizures apparent in infancy, impaired speech, and aggressive behavior. Additional features include microcephaly, ataxia, and muscle weakness." []
xref: MedGen:CN525653
xref: MeSH:D065886
xref: MIM:617709 "phenotype"
[Term]
id: DI-05111
name: Oocyte/zygote/embryo maturation arrest 3
def: "An autosomal dominant infertility disorder characterized by abnormal oocytes that lack the zona pellucida, and oocytes degeneration." []
synonym: "Oocyte maturation defect 3" [UniProt]
synonym: "OOMD3" [UniProt]
xref: MedGen:CN523306
xref: MeSH:D007247
xref: MIM:617712 "phenotype"
[Term]
id: DI-05112
name: Oocyte/zygote/embryo maturation arrest 4
def: "An autosomal recessive infertility disorder characterized by oocyte maturation arrest that can occur at different stages of maturation. Some oocytes exhibit maturation arrest at the germinal vesicle stage and others at the metaphase I stage. Oocytes progressing to polar body I either undergo fertilization failure or, in those that are fertilized, early embryonic arrest." []
synonym: "Oocyte maturation defect 4" [UniProt]
synonym: "OOMD4" [UniProt]
xref: MedGen:CN562785
xref: MeSH:D007247
xref: MIM:617743 "phenotype"
[Term]
id: DI-05113
name: Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
def: "An autosomal recessive, mitochondrial disorder with a broad phenotypic spectrum ranging from severe neonatal lactic acidosis, encephalomyopathy and early death to an attenuated course with milder manifestations. Clinical features include delayed psychomotor development, intellectual disability, hypotonia, dystonia, ataxia, and spasticity. Severe combined respiratory chain deficiency may be found in severely affected individuals." []
xref: MedGen:CN525654
xref: MeSH:D028361
xref: MIM:617710 "phenotype"
[Term]
id: DI-05114
name: Epileptic encephalopathy, infantile or early childhood, 1
def: "A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. IECEE1 is an autosomal dominant condition with onset of seizures between the first weeks and first years of life." []
xref: MedGen:CN547334
xref: MeSH:D013036
xref: MIM:617711 "phenotype"
[Term]
id: DI-05115
name: Combined oxidative phosphorylation deficiency 33
def: "An autosomal recessive disorder caused by multiple mitochondrial respiratory chain defects and impaired mitochondrial energy metabolism. Clinical manifestations are highly variable. Affected infants present with cardiomyopathy accompanied by multisystemic features involving liver, kidney, and brain. Death in infancy is observed in some patients. Children and adults present with myopathy and progressive external ophthalmoplegia." []
xref: MedGen:CN533576
xref: MeSH:D028361
xref: MIM:617713 "phenotype"
[Term]
id: DI-05116
name: Auditory neuropathy and optic atrophy
def: "An autosomal recessive disease characterized by hearing loss, visual impairment and optic atrophy, with onset in the first or second decades of life. Optic atrophy is caused by degeneration of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts." []
synonym: "MMDS9A" [UniProt]
synonym: "Multiple mitochondrial dysfunctions syndrome 9A" [UniProt]
xref: MedGen:CN533577
xref: MeSH:D015418
xref: MeSH:D034381
xref: MIM:617717 "phenotype"
[Term]
id: DI-05117
name: Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia
def: "An autosomal recessive disorder characterized by platelet abnormalities, vasculitis, eosinophilia, and predisposition to inflammatory diseases." []
synonym: "Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease" [UniProt]
synonym: "PLTEID" [UniProt]
xref: MedGen:CN570504
xref: MeSH:D001791
xref: MeSH:D004802
xref: MIM:617718 "phenotype"
[Term]
id: DI-05118
name: Epiphyseal dysplasia, multiple, 7
def: "A form of multiple epiphyseal dysplasia, a generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. EDM7 inheritance is autosomal recessive." []
xref: MedGen:CN533578
xref: MeSH:D010009
xref: MIM:617719 "phenotype"
[Term]
id: DI-05119
name: Neuronopathy, distal hereditary motor, autosomal dominant 9
def: "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMND9 is characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs." []
synonym: "DHMN9" [UniProt]
synonym: "HMN9" [UniProt]
synonym: "Neuronopathy, distal hereditary motor, 9" [UniProt]
synonym: "Neuronopathy, distal hereditary motor, type IX" [UniProt]
synonym: "Neuropathy, distal hereditary motor, type IX" [UniProt]
xref: MedGen:C4540265
xref: MeSH:D009134
xref: MIM:617721 "phenotype"
[Term]
id: DI-05120
name: Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
def: "An autosomal dominant congenital disorder characterized by non- progressive bilateral facial palsy, velopharyngeal dysfunction presenting with varying degrees of hypomimia, rhinophonia and impaired gag reflex, and bilateral ptosis." []
xref: MedGen:CN570508
xref: MeSH:D003389
xref: MIM:617732 "phenotype"
[Term]
id: DI-05121
name: Immunodeficiency, developmental delay, and hypohomocysteinemia
def: "An early onset multisystem disorder characterized by immunodeficiency, recurrent infections, developmental delay, poor growth, intellectual disability, and hypohomocysteinemia. Some patients manifest congenital cardiac defects. IMDDHH inheritance pattern is autosomal dominant." []
xref: MedGen:CN578218
xref: MeSH:D007153
xref: MIM:617744 "phenotype"
[Term]
id: DI-05122
name: Sweeney-Cox syndrome
def: "An autosomal dominant syndrome characterized by facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears." []
xref: MedGen:CN570503
xref: MeSH:D003394
xref: MIM:617746 "phenotype"
[Term]
id: DI-05123
name: Diencephalic-mesencephalic junction dysplasia syndrome 1
def: "An autosomal recessive syndrome characterized by severe global developmental delay with profound intellectual disability, spasticity or dystonia, and congenital microcephaly. Brain imaging shows hypothalamic midbrain dysplasia, diencephalic-mesencephalic dysplasia, and intracerebral calcifications." []
synonym: "Microcephaly with spastic quadriplegia" [UniProt]
synonym: "Microcephaly, seizures, spasticity, and brain calcifications" [UniProt]
synonym: "MISSBC" [UniProt]
xref: MedGen:C1855055
xref: MeSH:D008831
xref: MeSH:D065886
xref: MIM:251280 "phenotype"
[Term]
id: DI-05124
name: Hypertryptophanemia
def: "An autosomal recessive condition characterized by persistent hypertryptophanemia and hyperserotoninemia." []
synonym: "Hypertryptophanemia, familial" [UniProt]
xref: MedGen:C1833562
xref: MeSH:D000592
xref: MIM:600627 "phenotype"
[Term]
id: DI-05125
name: Leukodystrophy, progressive, early childhood-onset
def: "A form of leukodystrophy, a disorder of myelin production or maintenance affecting the central nervous system. PELCO features include neurological regression between 6 and 13 months of age, truncal hypotonia, appendicular spasticity, dystonia, optic disk pallor, peripheral neuropathy and neurogenic bladder. Brain imaging shows progressive diffuse abnormal white matter signals, cerebral atrophy, and thin corpus callosum. Sural nerve biopsy shows decreased myelination. PLDECO inheritance is autosomal recessive." []
xref: MedGen:CN603947
xref: MeSH:D020279
xref: MIM:617762 "phenotype"
[Term]
id: DI-05126
name: Optic atrophy 5
def: "A form of optic atrophy, a disease characterized by progressive visual loss in association with a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA5 is an autosomal dominant non-syndromic form that manifests as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and dyschromatopsia." []
xref: MedGen:C1853139
xref: MeSH:D015418
xref: MIM:610708 "phenotype"
[Term]
id: DI-05127
name: Uruguay faciocardiomusculoskeletal syndrome
def: "An X-linked recessive syndrome characterized by brachyturricephaly, pugilistic coarse facies, a muffled voice, cardiomyopathy, muscular hypertrophy, broad hands, wide feet with progressive pes cavus deformities, dislocation of toes, variable congenital hip dislocation, and scoliosis." []
synonym: "Faciocardiomusculoskeletal syndrome, Uruguay type" [UniProt]
synonym: "FCMS" [UniProt]
xref: MedGen:C1846010
xref: MeSH:D009140
xref: MeSH:D009202
xref: MIM:300280 "phenotype"
[Term]
id: DI-05128
name: Fanconi anemia, complementation group W
def: "A form of Fanconi anemia, a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair." []
xref: MedGen:CN653907
xref: MeSH:D005199
xref: MIM:617784 "phenotype"
[Term]
id: DI-05129
name: Nephrotic syndrome 16
def: "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS16 inheritance is autosomal recessive." []
synonym: "Nephrotic syndrome, type 16" [UniProt]
xref: MedGen:CN651336
xref: MeSH:D009404
xref: MIM:617783 "phenotype"
[Term]
id: DI-05130
name: Retinitis pigmentosa 80
def: "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP80 inheritance is autosomal recessive." []
xref: MedGen:CN638473
xref: MeSH:D012174
xref: MIM:617781 "phenotype"
[Term]
id: DI-05131
name: Intellectual developmental disorder, autosomal dominant 48
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD48 patients manifest global developmental delay and moderate to severe intellectual disability." []
xref: MedGen:CN580791
xref: MeSH:D008607
xref: MIM:617751 "phenotype"
[Term]
id: DI-05132
name: Clark-Baraitser syndrome
def: "An autosomal dominant disease characterized by intellectual disability, delayed psychomotor development, behavioral abnormalities, variable dysmorphic facial features, tall stature, obesity, and macrocephaly." []
synonym: "MRD49" [UniProt]
xref: MedGen:CN593636
xref: MeSH:D008607
xref: MIM:617752 "phenotype"
[Term]
id: DI-05133
name: Intellectual developmental disorder, autosomal recessive 61
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT61 patients manifest delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. Refractory seizures and brain abnormalities are present in severely affected patients." []
synonym: "Alwadei syndrome" [UniProt]
xref: MedGen:CN651335
xref: MeSH:D008607
xref: MIM:617773 "phenotype"
[Term]
id: DI-05134
name: Joubert syndrome 32
def: "A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS32 inheritance is autosomal recessive." []
xref: MedGen:CN596207
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:617757 "phenotype"
[Term]
id: DI-05135
name: Joubert syndrome 33
def: "A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS33 inheritance is autosomal recessive." []
xref: MedGen:CN601375
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:617767 "phenotype"
[Term]
id: DI-05136
name: Joubert syndrome 31
def: "A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS31 inheritance is autosomal recessive." []
xref: MedGen:CN593637
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:617761 "phenotype"
[Term]
id: DI-05137
name: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
def: "An autosomal dominant neurodevelopmental disorder characterized by variable degrees of developmental delay, intellectual disability, speech delay, postnatal microcephaly, dysmorphic features, and mild abnormalities of the hands and feet." []
xref: MedGen:CN596206
xref: MeSH:D065886
xref: MIM:617755 "phenotype"
[Term]
id: DI-05138
name: Erythrokeratodermia variabilis et progressiva 5
def: "A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. EKVP5 inheritance is autosomal recessive." []
xref: MedGen:CN583363
xref: MeSH:D056266
xref: MIM:617756 "phenotype"
[Term]
id: DI-05139
name: Myopathy, centronuclear, 6, with fiber-type disproportion
def: "A form of centronuclear myopathy, a congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. CNM6 is an autosomal recessive, slowly progressive form with onset in infancy or early childhood." []
xref: MedGen:CN596208
xref: MeSH:D020914
xref: MIM:617760 "phenotype"
[Term]
id: DI-05140
name: Immunodeficiency, common variable, 14
def: "A primary immunodeficiency resulting in recurrent sinopulmonary infections since early childhood, and characterized by hypogammaglobulinemia with undetectable IgG and IgA, poor response to vaccination, and decreased levels of switched memory B cells. CVID14 inheritance is autosomal dominant." []
xref: MedGen:CN615280
xref: MeSH:D017074
xref: MIM:617765 "phenotype"
[Term]
id: DI-05141
name: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
def: "An autosomal recessive disorder characterized by childhood myopia, early onset retinitis pigmentosa, progressive sensorineural hearing loss, hypothyroidism, short stature, brachydactyly, recognisable facial gestalt, premature ageing and mild intellectual disability." []
xref: MedGen:CN603946
xref: MeSH:D000015
xref: MIM:617763 "phenotype"
[Term]
id: DI-05142
name: Kleefstra syndrome 2
def: "A form of Kleefstra syndrome, an autosomal dominant disease characterized by variable intellectual disability, psychomotor developmental delay, seizures, behavioral abnormalities, and facial dysmorphisms." []
xref: MedGen:CN617858
xref: MeSH:D065886
xref: MIM:617768 "phenotype"
[Term]
id: DI-05143
name: Spinocerebellar ataxia 45
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA45 is a slowly progressive, autosomal dominant form with onset in adulthood." []
xref: MedGen:CN623017
xref: MeSH:D020754
xref: MIM:617769 "phenotype"
[Term]
id: DI-05144
name: Spinocerebellar ataxia 46
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA46 is a slowly progressive, autosomal dominant form with onset in adulthood." []
synonym: "Spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy" [UniProt]
xref: MedGen:CN623018
xref: MeSH:D020754
xref: MIM:617770 "phenotype"
[Term]
id: DI-05145
name: Developmental and epileptic encephalopathy 57
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE57 is an autosomal dominant condition." []
synonym: "EIEE57" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 57" [UniProt]
xref: MedGen:CN633295
xref: MeSH:D013036
xref: MIM:617771 "phenotype"
[Term]
id: DI-05146
name: Deafness, autosomal dominant, 34, with or without inflammation
def: "A form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA34 is a postlingual, slowly progressive form with variable severity and variable additional features. Some DFNA34 patients have autoinflammatory manifestations." []
xref: MedGen:CN653906
xref: MeSH:D006319
xref: MIM:617772 "phenotype"
[Term]
id: DI-05147
name: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
def: "An autosomal recessive disorder due to an inborn error of folate metabolism. Variable clinical manifestations include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild intellectual disability, and lymphopenia." []
xref: MedGen:CN635903
xref: MeSH:D008661
xref: MIM:617780 "phenotype"
[Term]
id: DI-05148
name: Joubert syndrome 34
def: "A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS34 inheritance is autosomal recessive." []
xref: MedGen:CN620433
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:614175 "phenotype"
[Term]
id: DI-05149
name: Renal hypodysplasia/aplasia 3
def: "A severe, autosomal dominant disease encompassing a spectrum of kidney development defects. Clinical manifestations are highly variable and include bilateral or unilateral renal agenesis, renal aplasia, hypoplasia, (cystic) dysplasia, severe obstructive uropathy, and vesicoureteral reflux. Bilateral renal agenesis is almost invariably fatal in utero or in the perinatal period. Unilateral renal agenesis can lead to future health issues including end-stage renal disease." []
xref: MedGen:CN703737
xref: MeSH:D007674
xref: MIM:617805 "phenotype"
[Term]
id: DI-05150
name: Myopia 26, X-linked, female-limited
def: "A form of myopia, a refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. MYP26 is characterized by typical tigroid fundus changes commonly seen in early onset high myopia, and an unusual pattern of X-linked female-limited inheritance." []
xref: MedGen:CN708878
xref: MeSH:D009216
xref: MIM:301010 "phenotype"
[Term]
id: DI-05151
name: Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:CN671930
xref: MeSH:D008607
xref: MIM:617787 "phenotype"
[Term]
id: DI-05152
name: Intellectual developmental disorder, autosomal dominant 51
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:CN671931
xref: MeSH:D008607
xref: MIM:617788 "phenotype"
[Term]
id: DI-05153
name: Intellectual developmental disorder, autosomal dominant 52
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:CN671932
xref: MeSH:D008607
xref: MIM:617796 "phenotype"
[Term]
id: DI-05154
name: Intellectual developmental disorder, autosomal dominant 53
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:CN677078
xref: MeSH:D008607
xref: MIM:617798 "phenotype"
[Term]
id: DI-05155
name: Intellectual developmental disorder, autosomal dominant 54
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:CN679648
xref: MeSH:D008607
xref: MIM:617799 "phenotype"
[Term]
id: DI-05156
name: Intellectual developmental disorder, X-linked, syndromic, Houge type
def: "A disorder characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures. Carrier females may be mildly affected." []
xref: MedGen:CN679647
xref: MeSH:D008607
xref: MIM:301008 "phenotype"
[Term]
id: DI-05157
name: Microcephaly 19, primary, autosomal recessive
def: "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH19 affected individuals manifest severe developmental delay, failure to thrive, cortical blindness, and spasticity. Brain imaging show a simplified gyral pattern, thin corpus callosum, slight ventricular dilation, and delayed myelination." []
xref: MedGen:CN677079
xref: MeSH:D008831
xref: MIM:617800 "phenotype"
[Term]
id: DI-05158
name: Coffin-Siris syndrome 6
def: "A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. CSS6 inheritance is autosomal dominant." []
xref: MedGen:CN696018
xref: MeSH:D000015
xref: MeSH:D008607
xref: MIM:617808 "phenotype"
[Term]
id: DI-05159
name: Geleophysic dysplasia 3
def: "A form of geleophysic dysplasia, a rare skeletal disease characterized by severe short stature, short hands and feet, and joint limitations. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include skin thickening, progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues. GPHYSD3 inheritance is autosomal dominant." []
xref: MedGen:CN696019
xref: MeSH:D004392
xref: MIM:617809 "phenotype"
[Term]
id: DI-05160
name: Glycosylphosphatidylinositol biosynthesis defect 15
def: "An autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria." []
synonym: "Developmental delay, epilepsy, cerebellar atrophy, and osteopenia" [UniProt]
xref: MedGen:CN698605
xref: MeSH:D001847
xref: MeSH:D001927
xref: MeSH:D065886
xref: MIM:617810 "phenotype"
[Term]
id: DI-05161
name: Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
def: "An autosomal recessive neurodevelopmental disorder characterized by severe developmental delay, intellectual disability, severe microcephaly, and cortical atrophy." []
xref: MedGen:CN679649
xref: MeSH:D065886
xref: MIM:617802 "phenotype"
[Term]
id: DI-05162
name: Neurodevelopmental disorder with variable motor and language impairment
def: "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, intellectual disability, speech impairment and gait abnormalities." []
synonym: "Neurodevelopmental disorder with severe motor impairment and absent language" [UniProt]
xref: MedGen:CN703736
xref: MeSH:D065886
xref: MIM:617804 "phenotype"
[Term]
id: DI-05163
name: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
def: "An autosomal dominant neurodevelopmental disorder apparent in infancy and characterized by severe intellectual disability with absent speech, epilepsy, and hypotonia. Additionally, visual problems, musculoskeletal abnormalities, and microcephaly can be present. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem." []
xref: MedGen:CN698604
xref: MeSH:D065886
xref: MIM:617807 "phenotype"
[Term]
id: DI-05164
name: Glycosylphosphatidylinositol biosynthesis defect 16
def: "An autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, and seizures." []
synonym: "MRT62" [UniProt]
xref: MedGen:CN703738
xref: MeSH:D008607
xref: MIM:617816 "phenotype"
[Term]
id: DI-05165
name: Glucocorticoid deficiency 5
def: "A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements." []
xref: MedGen:CN708879
xref: MeSH:D000309
xref: MIM:617825 "phenotype"
[Term]
id: DI-05166
name: Ehlers-Danlos syndrome, arthrochalasia type, 2
def: "A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSARTH2 is an autosomal dominant condition characterized by frequent congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement." []
synonym: "EDS VIIB" [UniProt]
synonym: "EDS7B" [UniProt]
synonym: "Ehlers-Danlos syndrome 7B" [UniProt]
synonym: "Ehlers-Danlos syndrome, type VIIB, autosomal dominant" [UniProt]
xref: MedGen:CN706304
xref: MeSH:D004535
xref: MIM:617821 "phenotype"
[Term]
id: DI-05167
name: Spondylometaphyseal dysplasia, corner fracture type
def: "An autosomal dominant form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDCF is characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures. These corner fractures involve the distal tibia, the ulnar aspect of the distal radius, the proximal humerus, and the proximal femur. They represent irregular ossification at the growth plates and secondary ossification centers." []
synonym: "Spondylometaphyseal dysplasia, Sutcliffe type" [UniProt]
synonym: "Sutcliffe type of spondylometaphyseal dysplasia" [UniProt]
xref: MedGen:C0432221
xref: MeSH:D010009
xref: MIM:184255 "phenotype"
[Term]
id: DI-05168
name: Choroidal dystrophy, central areolar, 1
def: "A form of central areolar choroidal dystrophy, a retinal disease that affects the macula and results in a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris. CACD1 inheritance is autosomal recessive." []
synonym: "CACD" [UniProt]
synonym: "Choroidal dystrophy" [UniProt]
synonym: "Choroidal dystrophy, central areolar" [UniProt]
xref: MedGen:C0344297
xref: MedGen:C1536451
xref: MeSH:D012164
xref: MIM:215500 "phenotype"
[Term]
id: DI-05169
name: Alkuraya-Kucinskas syndrome
def: "An autosomal recessive syndrome characterized by brain atrophy and arthrogryposis. Patients present with cerebral parenchymal underdevelopment, lissencephaly, severe to mild ventriculomegaly, and cerebellar hypoplasia with brainstem dysgenesis. Most affected individuals die in utero or soon after birth. The few patients who survive have variable intellectual disability and may have seizures. Facial dysmorphism, cardiac and ophthalmologic anomalies, such as microphthalmia and cataract, are additional features." []
xref: MedGen:CN737163
xref: MeSH:D001176
xref: MeSH:D009421
xref: MIM:617822 "phenotype"
[Term]
id: DI-05170
name: Developmental and epileptic encephalopathy 58
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE58 is an autosomal dominant condition characterized by onset of refractory seizures in the first days or months of life." []
synonym: "EIEE58" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 58" [UniProt]
xref: MedGen:CN757795
xref: MeSH:D013036
xref: MIM:617830 "phenotype"
[Term]
id: DI-05171
name: Marsili syndrome
def: "An autosomal dominant disorder characterized by congenital pain insensitivity. Painless cutaneous thermal burns and bone fractures are present in affected individuals. Corneal reflex is absent, sweating is decreased or absent. Patients have normal cognitive abilities, and display no evidence of distal weakness." []
synonym: "Congenital analgesia, autosomal dominant" [UniProt]
synonym: "Insensitivity to pain, congenital, autosomal dominant" [UniProt]
xref: MedGen:C1840219
xref: MeSH:D000699
xref: MIM:147430 "phenotype"
[Term]
id: DI-05172
name: Amyotrophic lateral sclerosis 23
def: "A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS23 is an autosomal dominant form with incomplete penetrance." []
xref: MedGen:CN778765
xref: MeSH:D000690
xref: MIM:617839 "phenotype"
[Term]
id: DI-05173
name: MEHMO syndrome
def: "An X-linked recessive syndrome characterized by intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity." []
synonym: "MRXS20" [UniProt]
synonym: "MRXS25" [UniProt]
synonym: "MRXSBRK" [UniProt]
xref: MedGen:C1846278
xref: MeSH:D038901
xref: MIM:300148 "phenotype"
[Term]
id: DI-05174
name: Epileptic encephalopathy, infantile or early childhood, 2
def: "A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. IECEE2 is an autosomal dominant condition with variable age at seizure onset, ranging from early infancy to 6 years." []
xref: MedGen:CN757794
xref: MeSH:D013036
xref: MIM:617829 "phenotype"
[Term]
id: DI-05175
name: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
def: "An autosomal recessive neurodevelopmental disorder characterized by severe intellectual disability and psychomotor developmental delay, involuntary and stereotypic movements, spasticity, and inability to walk without support. Intractable seizures manifest in some patients." []
xref: MedGen:CN737161
xref: MeSH:D008607
xref: MIM:617820 "phenotype"
[Term]
id: DI-05176
name: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
def: "An autosomal dominant neurodevelopmental disorder characterized by severe intellectual disability and developmental delay, absent speech, muscular hypotonia, dyskinesia, and hyperkinetic movements. Cortical blindness, cerebral atrophy, and seizures are present in some patients." []
synonym: "MRD8" [UniProt]
xref: MedGen:C3280282
xref: MeSH:D008607
xref: MIM:614254 "phenotype"
[Term]
id: DI-05177
name: Immunodeficiency 55
def: "An autosomal recessive primary immunodeficiency characterized by chronic neutropenia, natural killer cell deficiency, recurrent viral and bacterial infections, and intrauterine growth retardation. Postnatal growth retardation is present in most patients." []
xref: MedGen:CN737162
xref: MeSH:D007153
xref: MIM:617827 "phenotype"
[Term]
id: DI-05178
name: Intellectual developmental disorder, autosomal dominant 55, with seizures
def: "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD55 patients suffer from seizures appearing during the first years of life." []
xref: MedGen:CN757796
xref: MeSH:D008607
xref: MIM:617831 "phenotype"
[Term]
id: DI-05179
name: Developmental delay and seizures with or without movement abnormalities
def: "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor." []
xref: MedGen:CN769090
xref: MeSH:D065886
xref: MIM:617836 "phenotype"
[Term]
id: DI-05180
name: Alopecia-intellectual disability syndrome 1
def: "A rare autosomal recessive form of alopecia. APMR1 patients show loss of hair on the scalp, absence of eyebrows, eyelashes, axillary and pubic hair, and mild to severe intellectual disability." []
synonym: "Alopecia with severe intellectual deficit" [UniProt]
synonym: "AMR syndrome" [UniProt]
synonym: "AMR syndrome 1" [UniProt]
xref: MedGen:C1859878
xref: MeSH:D000505
xref: MeSH:D008607
xref: MIM:203650 "phenotype"
[Term]
id: DI-05181
name: Spondyloepimetaphyseal dysplasia, Shohat type
def: "An autosomal recessive skeletal dysplasia that affects cartilage development. It is characterized by vertebral, epiphyseal, and metaphyseal abnormalities, including scoliosis with vertebral compression fractures, flattened vertebral bodies, and hypomineralization of long bones. Affected individuals may exhibit a small trunk, short neck, small limbs, joint laxity, bowlegs, and/or abdominal distension with hepatosplenomegaly." []
synonym: "SEMD, Shohat type" [UniProt]
xref: MedGen:C1865185
xref: MeSH:D010009
xref: MIM:602557 "phenotype"
[Term]
id: DI-05182
name: Trehalase deficiency
def: "An autosomal recessive condition characterized by the inability to digest trehalose, a disaccharide found in mushrooms, products containing baker's yeast, and dried food. Individuals with trehalase deficiency suffer from abdominal pain, increased rectal flatulence, and diarrhea due to osmotic water flow into the colon." []
synonym: "Trehalose intolerance" [UniProt]
xref: MedGen:C0268187
xref: MeSH:D030342
xref: MIM:612119 "phenotype"
[Term]
id: DI-05183
name: Fontaine progeroid syndrome
def: "An autosomal dominant progeroid disorder characterized by prenatal and postnatal growth retardation, decreased subcutaneous fat tissue, wrinkled skin, an aged appearance since birth, an abnormal scalp hair pattern, sparse hair, hypoplastic distal phalanges with hypoplastic nails, a widely open anterior fontanel, facial dysmorphisms, and craniosynostosis. Early death is observed in some patients." []
synonym: "Craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence" [UniProt]
synonym: "GCMS" [UniProt]
synonym: "Gorlin-Chaudhry-Moss syndrome" [UniProt]
synonym: "Progeroid syndrome, congenital, Petty type" [UniProt]
xref: MedGen:C2676780
xref: MeSH:D000015
xref: MeSH:D019588
xref: MIM:612289 "phenotype"
[Term]
id: DI-05184
name: Cortisone reductase deficiency 2
def: "An autosomal dominant error of cortisone metabolism characterized by a failure to regenerate cortisol from cortisone, resulting in increased cortisol clearance, activation of the hypothalamic- pituitary axis and ACTH-mediated adrenal androgen excess. Clinical features include hyperandrogenism resulting in hirsutism, oligo- amenorrhea, and infertility in females and premature pseudopuberty in males." []
xref: MedGen:C1291245
xref: MeSH:D008661
xref: MIM:614662 "phenotype"
[Term]
id: DI-05185
name: Left ventricular non-compaction 5
def: "A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC5 is an autosomal dominant condition." []
xref: MedGen:C3150690
xref: MeSH:D056830
xref: MIM:613426 "phenotype"
[Term]
id: DI-05186
name: Intellectual developmental disorder, autosomal dominant 56
def: "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:CN787270
xref: MeSH:D008607
xref: MIM:617854 "phenotype"
[Term]
id: DI-05187
name: Retinitis pigmentosa 81
def: "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP81 inheritance is autosomal recessive." []
xref: MedGen:CN802781
xref: MeSH:D012174
xref: MIM:617871 "phenotype"
[Term]
id: DI-05188
name: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
def: "An autosomal recessive neurodevelopmental disorder characterized by microcephaly, global developmental delay, hypotonia, intellectual disability, autistic features such as poor social interaction, language impairment and repetitive automatism behaviors, and generalized tonic-clonic seizures. Brain imaging shows cortical atrophy, thin corpus callosum, and cerebellar and brainstem atrophy." []
xref: MedGen:CN787271
xref: MeSH:D065886
xref: MIM:617862 "phenotype"
[Term]
id: DI-05189
name: Neurodevelopmental disorder with or without seizures and gait abnormalities
def: "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay apparent from infancy or early childhood, mild to profound intellectual disability, hypertonia early in life, which progresses to spasticity and impaired gait later, and behavioral abnormalities. Some patients may develop seizures of variable severity early in life." []
xref: MedGen:CN800195
xref: MeSH:D065886
xref: MIM:617864 "phenotype"
[Term]
id: DI-05190
name: Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features
def: "An autosomal dominant neurodevelopmental disorder characterized by infantile-onset global developmental delay, severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor. More variable neurologic features include mild seizures, spasticity, and peripheral neuropathy." []
xref: MedGen:CN800196
xref: MeSH:D065886
xref: MIM:617865 "phenotype"
[Term]
id: DI-05191
name: Short-rib thoracic dysplasia 18 with polydactyly
def: "A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome." []
xref: MedGen:CN795020
xref: MeSH:D012779
xref: MIM:617866 "phenotype"
[Term]
id: DI-05192
name: Combined oxidative phosphorylation deficiency 34
def: "An autosomal recessive disorder caused by mitochondrial dysfunction and combined respiratory chain deficiencies of complexes I, III and IV. Clinical manifestations are variable and include congenital sensorineural deafness, lactic acidemia, and progressive hepatic and renal failure." []
xref: MedGen:CN807947
xref: MeSH:D028361
xref: MIM:617872 "phenotype"
[Term]
id: DI-05193
name: Combined oxidative phosphorylation deficiency 35
def: "An autosomal recessive disorder caused by defective mitochondrial metabolism and deficiencies of mitochondrial respiratory enzyme complexes. Clinical manifestations include global developmental delay, intellectual disability, microcephaly, and early-onset seizures." []
xref: MedGen:CN807948
xref: MeSH:D028361
xref: MIM:617873 "phenotype"
[Term]
id: DI-05194
name: Polycystic liver disease 3 with or without kidney cysts
def: "A form of polycystic liver disease, an autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. PCLD3 patients may also develop kidney cysts that usually do not result in clinically significant renal disease." []
xref: MedGen:CN818986
xref: MeSH:D003560
xref: MeSH:D008107
xref: MIM:617874 "phenotype"
[Term]
id: DI-05195
name: Polycystic liver disease 4 with or without kidney cysts
def: "A form of polycystic liver disease, an autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. PCLD4 patients may also develop kidney cysts that usually do not result in clinically significant renal disease." []
xref: MedGen:CN818987
xref: MeSH:D003560
xref: MeSH:D008107
xref: MIM:617875 "phenotype"
[Term]
id: DI-05196
name: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
def: "An autosomal dominant disorder characterized by short stature, facial dysmorphism, skeletal anomalies, and variable cardiac defects. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract." []
xref: MedGen:CN807949
xref: MeSH:D001848
xref: MIM:617877 "phenotype"
[Term]
id: DI-05197
name: Leber congenital amaurosis with early-onset deafness
def: "An autosomal dominant disease characterized by severe retinal degeneration and sensorineural hearing loss. Symptoms occur within the first decade of life. Onset at birth is observed in some patients." []
xref: MedGen:CN807950
xref: MeSH:D054062
xref: MeSH:D057130
xref: MIM:617879 "phenotype"
[Term]
id: DI-05198
name: Intellectual developmental disorder, X-linked 107
def: "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations." []
synonym: "MRX107" [UniProt]
xref: MedGen:CN244560
xref: MeSH:D038901
xref: MIM:301013 "phenotype"
[Term]
id: DI-05199
name: Arthrogryposis multiplex congenita 2, neurogenic type
def: "A form of arthrogryposis multiplex congenita, a heterogeneous group of disorders characterized by multiple joint contractures resulting, in some cases, from reduced or absent fetal movements. AMC2 is due to a neurogenic defect and is characterized by congenital immobility of the limbs with fixation of multiple joints, and muscle wasting. AMC2 transmission pattern is consistent with autosomal recessive inheritance in several families. Penetrance may be incomplete in females." []
synonym: "AMC, neurogenic type" [UniProt]
synonym: "AMCN" [UniProt]
synonym: "Arthrogryposis multiplex congenita, neurogenic type" [UniProt]
xref: MedGen:C1859721
xref: MeSH:D001176
xref: MIM:208100 "phenotype"
[Term]
id: DI-05200
name: Keratoendothelitis fugax hereditaria
def: "An autosomal dominant corneal disease that periodically, and fleetingly, affects the corneal endothelium, stroma, and vision, eventually leading to central corneal stromal opacities in some patients. The disease is characterized by unilateral attacks of ocular pain, pericorneal injection, and photophobia. The acute symptoms vanish in 1-2 days but vision remains blurry for several weeks. The attacks start at the age of 3-12 years and can affect either eye. They generally decrease in frequency and get milder with age." []
synonym: "Keratitis fugax hereditaria" [UniProt]
xref: MedGen:C1835697
xref: MeSH:D007634
xref: MIM:148200 "phenotype"
[Term]
id: DI-05201
name: Insulinomatosis and diabetes mellitus
def: "An autosomal dominant disorder characterized by the occurrence of multicentric insulinomas, hyperinsulinemic hypoglycemia, non insulin- dependent diabetes mellitus, and impaired glucose tolerance. Some patients also exhibit congenital cataract and/or congenital glaucoma." []
synonym: "Islet cell adenomatosis" [UniProt]
xref: MedGen:C1578917
xref: MeSH:D007516
xref: MIM:147630 "phenotype"
[Term]
id: DI-05202
name: Orofaciodigital syndrome 17
def: "A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD17 inheritance is autosomal recessive." []
synonym: "OFDS XVII" [UniProt]
synonym: "Oral-facial-digital syndrome, type XVII" [UniProt]
synonym: "Orofaciodigital syndrome XVII" [UniProt]
xref: MedGen:CN902091
xref: MeSH:D009958
xref: MIM:617926 "phenotype"
[Term]
id: DI-05203
name: Short-rib thoracic dysplasia 20 with polydactyly
def: "A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome." []
xref: MedGen:CN902090
xref: MeSH:D012779
xref: MIM:617925 "phenotype"
[Term]
id: DI-05204
name: Short-rib thoracic dysplasia 19 with or without polydactyly
def: "A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome." []
xref: MedGen:CN842245
xref: MeSH:D012779
xref: MIM:617895 "phenotype"
[Term]
id: DI-05205
name: Amyotrophic lateral sclerosis 25
def: "A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS25 is an autosomal dominant form with variable adult onset and incomplete penetrance." []
xref: MedGen:CN895594
xref: MeSH:D000690
xref: MIM:617921 "phenotype"
[Term]
id: DI-05206
name: Amyotrophic lateral sclerosis 24
def: "A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases." []
xref: MedGen:CN842244
xref: MeSH:D000690
xref: MIM:617892 "phenotype"
[Term]
id: DI-05207
name: Microcephaly 20, primary, autosomal recessive
def: "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH20 features include mild to moderate intellectual disability, autistic features, poor speech. Disease severity is highly variable." []
xref: MedGen:CN895593
xref: MeSH:D008831
xref: MIM:617914 "phenotype"
[Term]
id: DI-05208
name: Charcot-Marie-Tooth disease, dominant intermediate G
def: "An autosomal dominant, intermediate form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Dominant intermediate forms are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. CMTDIG is phenotypically variable. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment." []
synonym: "Charcot-Marie-Tooth disease, dominant, intermediate type, G" [UniProt]
xref: MedGen:CN847583
xref: MeSH:D002607
xref: MIM:617882 "phenotype"
[Term]
id: DI-05209
name: Fanconi anemia, complementation group S
def: "A form of Fanconi anemia, a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair." []
xref: MedGen:CN850168
xref: MeSH:D005199
xref: MIM:617883 "phenotype"
[Term]
id: DI-05210
name: Multiple synostoses syndrome 4
def: "A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism. SYNS4 inheritance is autosomal dominant." []
xref: MedGen:CN842246
xref: MeSH:D013580
xref: MIM:617898 "phenotype"
[Term]
id: DI-05211
name: Leukodystrophy, hypomyelinating, 14
def: "An autosomal recessive, severe disorder characterized by atrophy of the basal ganglia and cerebellum, hypomyelination, severe developmental delay, typically without intentional movements and language development, and microcephaly. Almost all patients exhibit spasticity, extrapyramidal movement abnormalities, and severe drug- resistant epilepsy. Disease onset is early in infancy, and most patients die in the first years of life." []
xref: MedGen:CN845004
xref: MeSH:D020279
xref: MIM:617899 "phenotype"
[Term]
id: DI-05212
name: Encephalopathy, acute, infection-induced, 8, herpes-specific
def: "A rare, often fatal complication of herpes simplex infection, caused by virus spreading in the central nervous system. Disease manifestations include low-grade fever, severe headache, nausea, vomiting, and lethargy. Neurological features include confusion, acute memory disturbances, disorientation, behavioral changes, hemiparesis and seizures." []
synonym: "Herpes simplex encephalitis 6" [UniProt]
xref: MedGen:CN865669
xref: MeSH:D018792
xref: MIM:617900 "phenotype"
[Term]
id: DI-05213
name: Neurodevelopmental disorder with poor language and loss of hand skills
def: "An autosomal dominant disorder characterized by psychomotor developmental stagnation or regression. NDPLHS manifest in the first years of life as loss of purposeful hand movements, loss of language, and intellectual disability." []
xref: MedGen:CN870852
xref: MeSH:D065886
xref: MIM:617903 "phenotype"
[Term]
id: DI-05214
name: Developmental and epileptic encephalopathy 59
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE59 is an autosomal dominant condition characterized by onset of refractory seizures in early infancy." []
synonym: "EIEE59" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 59" [UniProt]
xref: MedGen:CN870853
xref: MeSH:D013036
xref: MIM:617904 "phenotype"
[Term]
id: DI-05215
name: Erythrocytosis, familial, 5
def: "An autosomal dominant disorder characterized by elevated serum hemoglobin and hematocrit. Some patients have increased serum erythropoietin levels." []
xref: MedGen:CN873435
xref: MeSH:D011086
xref: MIM:617907 "phenotype"
[Term]
id: DI-05216
name: Amyloidosis, primary localized cutaneous, 3
def: "A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins. PLCA3 inheritance is autosomal recessive." []
synonym: "ACD" [UniProt]
synonym: "Amyloidosis cutis dyschromica" [UniProt]
xref: MedGen:CN895592
xref: MeSH:D028226
xref: MIM:617920 "phenotype"
[Term]
id: DI-05217
name: Neurodegeneration with brain iron accumulation 7
def: "A neurodegenerative disorder associated with iron accumulation, primarily in the basal ganglia. Clinical features include speech and motor delay, truncal hypotonia, progressive cerebellar ataxia, and loss of ambulation. NBIA7 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN895590
xref: MeSH:D001480
xref: MeSH:D019150
xref: MeSH:D019189
xref: MIM:617916 "phenotype"
[Term]
id: DI-05218
name: Neurodegeneration with brain iron accumulation 8
def: "A neurodegenerative disorder associated with iron accumulation, primarily in the basal ganglia. Disease onset is in early childhood. Clinical features include speech delay, progressive cerebellar ataxia, unbalanced gait, and loss of ambulation. NBIA8 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN895591
xref: MeSH:D001480
xref: MeSH:D019150
xref: MeSH:D019189
xref: MIM:617917 "phenotype"
[Term]
id: DI-05219
name: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
def: "An autosomal dominant disorder characterized by delayed motor development, intellectual disability, failure to thrive, hypotonia, ataxia, and tooth enamel defects." []
xref: MedGen:CN895589
xref: MeSH:D003744
xref: MeSH:D065886
xref: MIM:617915 "phenotype"
[Term]
id: DI-05220
name: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
def: "An autosomal recessive, severe neurodevelopmental disorder characterized by global developmental delay since infancy, microcephaly, poor or absent speech, and inability to walk or spasticity. Additional features include renal abnormalities, congenital cataracts, gastroesophageal reflux disease, seizures with onset in infancy or childhood, hyporeflexia, and non-specific white matter abnormalities on brain imaging." []
xref: MedGen:CN889218
xref: MeSH:D000015
xref: MIM:617913 "phenotype"
[Term]
id: DI-05221
name: Congenital heart defects, multiple types, 5
def: "A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, patent ductus arteriosus, and tetralogy of Fallot. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. CHTD5 inheritance can be autosomal dominant or recessive." []
xref: MedGen:CN873437
xref: MeSH:D006330
xref: MIM:617912 "phenotype"
[Term]
id: DI-05222
name: Diamond-Blackfan anemia-like
def: "An autosomal recessive hematologic disease characterized by severe red cell hypoplastic anemia, selective absence of red cell precursors and progenitors seen on bone marrow biopsy, and increased serum erythropoietin." []
xref: MedGen:CN873436
xref: MeSH:D029503
xref: MIM:617911 "phenotype"
[Term]
id: DI-05223
name: Juvenile myoclonic epilepsy 10
def: "A form of juvenile myoclonic epilepsy, a subtype of idiopathic generalized epilepsy generally characterized by afebrile seizures with onset in adolescence (rather than in childhood) and myoclonic jerks, which usually occur after awakening and are triggered by sleep deprivation and fatigue. EJM10 is an autosomal dominant seizure disorder with variable manifestations, even within families. Affected individuals have febrile, myoclonic, tonic-clonic, or absence seizures, although several seizure types can occur in the same individual. Some patients have onset of seizures in the first years of life." []
xref: MedGen:CN244548
xref: MeSH:D020190
xref: MIM:617924 "phenotype"
[Term]
id: DI-05224
name: Orofaciodigital syndrome 18
def: "A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD18 is an autosomal recessive form characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features." []
synonym: "OFDS XVIII" [UniProt]
synonym: "Oral-facial-digital syndrome XVIII" [UniProt]
xref: MedGen:CN244546
xref: MeSH:D009958
xref: MIM:617927 "phenotype"
[Term]
id: DI-05225
name: Keratoconus 9
def: "An autosomal dominant form of keratoconus, a common degenerative corneal disease characterized by progressive, non-inflammatory thinning of the corneal stroma, corneal ectasia, and cone-shaped corneal protrusion that results in reduced vision." []
xref: MedGen:CN244547
xref: MeSH:D007640
xref: MIM:617928 "phenotype"
[Term]
id: DI-05226
name: Developmental and epileptic encephalopathy 60
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE60 is an autosomal recessive condition characterized by onset of seizures in the first months of life." []
synonym: "EIEE60" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 60" [UniProt]
xref: MedGen:CN244549
xref: MeSH:D013036
xref: MIM:617929 "phenotype"
[Term]
id: DI-05227
name: Developmental and epileptic encephalopathy 61
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE61 is an autosomal recessive condition characterized by onset of seizures in infancy." []
synonym: "EIEE61" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 61" [UniProt]
xref: MedGen:CN244550
xref: MeSH:D013036
xref: MIM:617933 "phenotype"
[Term]
id: DI-05228
name: Developmental and epileptic encephalopathy 62
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE62 is characterized by onset of seizures in the first year of life." []
synonym: "EIEE62" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 62" [UniProt]
xref: MedGen:CN244551
xref: MeSH:D013036
xref: MIM:617938 "phenotype"
[Term]
id: DI-05229
name: Epilepsy, familial focal, with variable foci 4
def: "An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy, frontal lobe epilepsy, and nocturnal frontal lobe epilepsy. Some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. A subset of patients have structural brain abnormalities. Penetrance of the disorder is incomplete. FFEVF4 is characterized by onset of focal seizures in the first years of life." []
xref: MedGen:CN244552
xref: MeSH:D004828
xref: MIM:617935 "phenotype"
[Term]
id: DI-05230
name: Shwachman-Diamond syndrome 2
def: "A form of Shwachman-Diamond syndrome, a disorder characterized by hematopoietic abnormalities, exocrine pancreatic dysfunction, and skeletal dysplasia. Intermittent or chronic neutropenia is the most common hematological manifestation, followed by anemia and thrombocytopenia. Some patients progress to bone marrow failure, myelodysplastic syndrome and malignant transformation, with acute myelogenous leukemia being the most common. Exocrine pancreatic dysfunction is generally the first presenting symptom in infancy. Short stature and metaphyseal dysplasia are the most frequent skeletal manifestations. SDS2 inheritance is autosomal recessive." []
xref: MedGen:CN244554
xref: MeSH:D001848
xref: MeSH:D006402
xref: MeSH:D010188
xref: MIM:617941 "phenotype"
[Term]
id: DI-05231
name: Elsahy-Waters syndrome
def: "An autosomal recessive syndrome characterized by moderate intellectual disability, hypospadias and characteristic craniofacial morphology, which includes brachycephaly, facial asymmetry, exotropia, hypertelorism, telechantus, broad nose, concave nasal ridge, underdeveloped mid-face, prognathism, and radicular dentin dysplasia." []
synonym: "Brachioskeletogenital syndrome" [UniProt]
synonym: "BSG syndrome" [UniProt]
synonym: "Hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss" [UniProt]
xref: MedGen:C0809936
xref: MeSH:D000015
xref: MIM:211380 "phenotype"
[Term]
id: DI-05232
name: Hyperlipidemia, familial combined, 3
def: "A disorder characterized by a variable pattern of elevated levels of serum total cholesterol, triglycerides or both. It is observed in a percentage of individuals with premature coronary heart disease. FCHL3 inheritance is autosomal dominant." []
synonym: "Familial combined hyperlipidemia" [UniProt]
xref: MedGen:C0020474
xref: MeSH:D006950
xref: MIM:144250 "phenotype"
[Term]
id: DI-05233
name: Deafness, aminoglycoside-induced
def: "A form of sensorineural deafness characterized by moderate-to-profound hearing loss and mitochondrial inheritance. It is induced by exposure to aminoglycosides." []
synonym: "Deafness, streptomycin-induced" [UniProt]
synonym: "Streptomycin ototoxicity" [UniProt]
xref: MedGen:C1838854
xref: MeSH:D006319
xref: MIM:580000 "phenotype"
[Term]
id: DI-05234
name: Microcephaly 21, primary, autosomal recessive
def: "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH21 features include mild intellectual disability, intrauterine growth retardation, short stature, and microcephaly." []
xref: MedGen:CN244930
xref: MeSH:D008831
xref: MIM:617983 "phenotype"
[Term]
id: DI-05235
name: Microcephaly 22, primary, autosomal recessive
def: "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small." []
xref: MedGen:CN244931
xref: MeSH:D008831
xref: MIM:617984 "phenotype"
[Term]
id: DI-05236
name: Microcephaly 23, primary, autosomal recessive
def: "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small." []
xref: MedGen:CN244932
xref: MeSH:D008831
xref: MIM:617985 "phenotype"
[Term]
id: DI-05237
name: Spinocerebellar ataxia 47
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA47 is an autosomal dominant disease with a highly variable phenotype and incomplete penetrance. Clinical features include developmental disability, ataxia, and seizures." []
xref: MedGen:CN244564
xref: MeSH:D020754
xref: MIM:617931 "phenotype"
[Term]
id: DI-05238
name: Combined oxidative phosphorylation deficiency 36
def: "An autosomal recessive, multisystem disease resulting from deficiencies of mitochondrial respiratory enzyme complexes and mitochondrial dysfunction. Clinical manifestations include sensorineural hearing impairment, mild developmental delay, hypoglycemia, and intellectual disability." []
xref: MedGen:CN244569
xref: MeSH:D028361
xref: MIM:617950 "phenotype"
[Term]
id: DI-05239
name: Leukodystrophy, hypomyelinating, 15
def: "An autosomal recessive disorder characterized by hypomyelinating leukodystrophy with thinning of the corpus callosum. Clinical features include motor and cognitive impairment appearing in the first or second decade of life, dystonia, ataxia, spasticity, and dysphagia. Most patients develop severe optic atrophy, and some have hearing loss." []
xref: MedGen:CN244566
xref: MeSH:D020279
xref: MIM:617951 "phenotype"
[Term]
id: DI-05240
name: Osteogenesis imperfecta 18
def: "An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI18 is a severe form characterized by congenital bowing of the lower limb, wormian bones, blue sclerae, vertebral collapses and multiple fractures in the first years of life." []
synonym: "Osteogenesis imperfecta, type XVIII" [UniProt]
xref: MedGen:CN244563
xref: MeSH:D010013
xref: MIM:617952 "phenotype"
[Term]
id: DI-05241
name: Multiple mitochondrial dysfunctions syndrome 6
def: "An autosomal recessive, neurodegenerative disorder characterized by basal ganglia lesions, cerebellar atrophy, and neurologic regression in the first year of life. Common features include truncal hypotonia, lack of independent ambulation, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity." []
xref: MedGen:CN244567
xref: MeSH:D028361
xref: MIM:617954 "phenotype"
[Term]
id: DI-05242
name: Spermatogenic failure 25
def: "An autosomal recessive infertility disorder caused by spermatogenesis defects that result in severe oligozoospermia or azoospermia." []
xref: MedGen:CN244572
xref: MeSH:D007248
xref: MIM:617960 "phenotype"
[Term]
id: DI-05243
name: Spermatogenic failure 26
def: "An autosomal recessive infertility disorder caused by spermatogenesis defects that result in acephalic spermatozoa." []
xref: MedGen:CN244573
xref: MeSH:D007248
xref: MIM:617961 "phenotype"
[Term]
id: DI-05244
name: Spermatogenic failure 27
def: "An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple morphologic abnormalities of the sperm flagella, including short, irregular, coiled, or absent flagella." []
xref: MedGen:CN244916
xref: MeSH:D007248
xref: MIM:617965 "phenotype"
[Term]
id: DI-05245
name: Leukodystrophy, hypomyelinating, 16
def: "An autosomal dominant disorder characterized by hypomyelination, leukodystrophy, and thin corpus callosum observed on brain imaging. Clinical features include hypotonia, nystagmus, and mildly delayed motor development with onset in infancy, ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. Some patients have cognitive impairment, whereas others may have normal cognition or mild intellectual disability with speech difficulties." []
xref: MedGen:CN244907
xref: MeSH:D020279
xref: MIM:617964 "phenotype"
[Term]
id: DI-05246
name: Rh-null, amorph type
def: "An autosomal recessive condition characterized by red blood cells that lack all Rh antigens, have increased osmotic fragility, diminished lifespan, and show changes in morphology resulting in stomatocytosis. Rh-null individuals have mild to moderate hemolytic anemia. They are at risk of having adverse reactions in response to transfusion or pregnancy, because they may produce antibodies against several of the Rh antigens." []
synonym: "Rh-null disease, amorph type" [UniProt]
synonym: "Rh-null syndrome, amorph type" [UniProt]
xref: MedGen:CN244925
xref: MeSH:D004899
xref: MeSH:D012204
xref: MIM:617970 "phenotype"
[Term]
id: DI-05247
name: Spondyloepimetaphyseal dysplasia, Di Rocco type
def: "A skeletal disorder characterized by short stature, joint pain, genu vara and spondyloepimetaphyseal dysplasia involving the hips, knees, ankles, wrists and hands. Patients also exhibit variable degrees of metaphysis and spine involvement. SEMDDR transmission pattern is consistent with autosomal dominant inheritance." []
xref: MedGen:CN244923
xref: MeSH:D010009
xref: MIM:617974 "phenotype"
[Term]
id: DI-05248
name: Developmental and epileptic encephalopathy 63
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE63 is an autosomal recessive disease with onset in infancy." []
synonym: "EIEE63" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 63" [UniProt]
xref: MedGen:CN244926
xref: MeSH:D013036
xref: MIM:617976 "phenotype"
[Term]
id: DI-05249
name: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
def: "An autosomal recessive disorder characterized by profound developmental delay, progressive spastic quadriplegia and contractures, early-onset refractory epilepsy in most patients, and brain malformations. Neuroimaging shows ventriculomegaly, reduced cerebral white matter volume, and thinning of cerebral gray matter." []
xref: MedGen:CN244929
xref: MeSH:D065886
xref: MIM:617977 "phenotype"
[Term]
id: DI-05250
name: Ververi-Brady syndrome
def: "An autosomal dominant disorder characterized by mild developmental delay and intellectual disability, speech delay, learning difficulties, autistic features, and mild facial dysmorphism." []
xref: MedGen:CN244927
xref: MeSH:D065886
xref: MIM:617982 "phenotype"
[Term]
id: DI-05251
name: Jaberi-Elahi syndrome
def: "An autosomal recessive disorder characterized by developmental delay and intellectual disability. Additional variable features include ataxic gait and abnormal movements, visual impairment, microcephaly, abnormal foot or hand posturing, kyphoscoliosis, dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum." []
xref: MedGen:CN244943
xref: MeSH:D065886
xref: MIM:617988 "phenotype"
[Term]
id: DI-05252
name: Deafness, congenital heart defects, and posterior embryotoxon
def: "An autosomal dominant disease characterized by mild to severe combined hearing loss, congenital heart defects, and posterior embryotoxon, a corneal abnormality consisting of a central collagen core surrounded by a thin layer of Descemets membrane and separated from the anterior chamber by a layer of endothelium. Congenital heart defects include tetralogy of Fallot, ventricular septal defect, or isolated peripheral pulmonic stenosis." []
xref: MedGen:C1866053
xref: MeSH:D000013
xref: MIM:617992 "phenotype"
[Term]
id: DI-05253
name: Tumoral calcinosis, hyperphosphatemic, familial, 2
def: "A form of hyperphosphatemic tumoral calcinosis, a rare autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients have recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement." []
xref: MedGen:CN248506
xref: MeSH:D002114
xref: MeSH:D015576
xref: MeSH:D054559
xref: MIM:617993 "phenotype"
[Term]
id: DI-05254
name: Tumoral calcinosis, hyperphosphatemic, familial, 3
def: "A form of hyperphosphatemic tumoral calcinosis, a rare autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients have recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement." []
xref: MedGen:CN248507
xref: MeSH:D002114
xref: MeSH:D015576
xref: MeSH:D054559
xref: MIM:617994 "phenotype"
[Term]
id: DI-05255
name: Ehlers-Danlos syndrome, classic-like, 2
def: "A variant form of Ehlers-Danlos syndrome, a connective tissue disorder. EDSCLL2 patients show severe joint and skin laxity, osteoporosis affecting the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Additional variable features include gastrointestinal and genitourinary manifestations (bowel rupture, gut dysmotility, cryptorchidism, and hernias), vascular complications (mitral valve prolapse and aortic root dilation), and skeletal anomalies. EDSCLL2 inheritance is autosomal recessive." []
xref: MedGen:CN248508
xref: MeSH:D004535
xref: MIM:618000 "phenotype"
[Term]
id: DI-05256
name: Spermatogenic failure 24
def: "An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple morphologic abnormalities of the flagella, including absent, short, coiled, bent, and irregular-caliber flagella. Malformations of the sperm head have also been observed. In addition, patients exhibit very low sperm concentrations and total sperm counts per ejaculate." []
xref: MedGen:CN244570
xref: MeSH:D007248
xref: MIM:617959 "phenotype"
[Term]
id: DI-05257
name: Hyperostosis cranialis interna
def: "An autosomal dominant bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII, its first symptoms often presenting during the second decade of life." []
xref: MedGen:C1840404
xref: MeSH:D015576
xref: MIM:144755 "phenotype"
[Term]
id: DI-05258
name: Short-rib thoracic dysplasia 7/20 with polydactyly, digenic
def: "A digenic form of short-rib thoracic dysplasia caused by double heterozygosity for a mutation in the WDR35 gene and a mutation in the INTU gene. Short-rib thoracic dysplasia is part of a group of ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome." []
xref: MedGen:C3279792
xref: MeSH:D012779
xref: MIM:614091 "phenotype"
[Term]
id: DI-05259
name: Chung-Jansen syndrome
def: "An autosomal dominant disorder characterized by developmental delay, intellectual disability, autistic features, anxiety, hypotonia, obesity, and dysmorphic features." []
synonym: "Developmental delay, intellectual disability, obesity, and dysmorphic features" [UniProt]
synonym: "DIDOD" [UniProt]
xref: MedGen:CN248510
xref: MeSH:D009765
xref: MeSH:D065886
xref: MIM:617991 "phenotype"
[Term]
id: DI-05260
name: Deafness, autosomal recessive, 57
def: "A form of non-syndromic, sensorineural deafness characterized by symmetric, bilateral hearing loss with onset in early childhood. Vestibular function is preserved. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB57 severity ranges from moderate to severe." []
xref: MedGen:CN248511
xref: MeSH:D006319
xref: MIM:618003 "phenotype"
[Term]
id: DI-05261
name: Deafness, autosomal recessive, 109
def: "A form of non-syndromic, sensorineural deafness characterized by bilateral, congenital, severe to profound hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB109 affected individuals additionally exhibit vestibular dysplasia, although they do not manifest problems with balance or movement." []
xref: MedGen:CN248519
xref: MeSH:D006319
xref: MIM:618013 "phenotype"
[Term]
id: DI-05262
name: Deafness, autosomal recessive, 26
def: "A form of non-syndromic sensorineural deafness characterized by prelingual, severe to profound hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:C1854275
xref: MeSH:D006319
xref: MIM:605428 "phenotype"
[Term]
id: DI-05263
name: Premature ovarian failure 14
def: "An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol." []
xref: MedGen:CN248520
xref: MeSH:D016649
xref: MIM:618014 "phenotype"
[Term]
id: DI-05264
name: Oocyte/zygote/embryo maturation arrest 5
def: "An autosomal recessive infertility disorder characterized by oocyte inability to exit metaphase II, resulting in fertilization failure." []
synonym: "Oocyte maturation defect 5" [UniProt]
synonym: "OOMD5" [UniProt]
xref: MedGen:CN238505
xref: MeSH:D007247
xref: MIM:617996 "phenotype"
[Term]
id: DI-05265
name: Developmental and epileptic encephalopathy 64
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE64 is an autosomal dominant form characterized by onset of seizures usually in the first year of life. Seizure types are variable and include focal dyscognitive and generalized tonic-clonic seizures, as well as febrile seizures in the mildest affected individuals. Seizures tend to respond to medical treatment." []
synonym: "EIEE64" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 64" [UniProt]
xref: MedGen:CN248512
xref: MeSH:D013036
xref: MIM:618004 "phenotype"
[Term]
id: DI-05266
name: Congenital disorder of glycosylation with defective fucosylation 1
def: "A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDGF1 is an autosomal recessive disorder, apparent from birth, characterized by poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability." []
xref: MedGen:CN258220
xref: MeSH:D018981
xref: MIM:618005 "phenotype"
[Term]
id: DI-05267
name: Corneal dystrophy, posterior polymorphous, 4
def: "A subtype of posterior corneal dystrophy, a disease characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. In severe cases, corneal endothelial failure may occur and corneal transplantation is required to restore vision. Secondary complications are common and include corneal edema, glaucoma, iris adherence to the cornea, and corectopia. PPCD4 transmission pattern is consistent with autosomal dominant inheritance." []
xref: MedGen:CN248531
xref: MeSH:D003317
xref: MIM:618031 "phenotype"
[Term]
id: DI-05268
name: Leukodystrophy, hypomyelinating, 17
def: "An autosomal recessive neurodevelopmental disorder characterized by atrophy of cerebral cortex, spinal cord and cerebellum, thin corpus callosum, abnormal signals in the basal ganglia, and features suggesting hypo- or demyelination observed on brain imaging. Clinical manifestations include lack of development, absent speech, microcephaly, spasticity, seizures, and contractures." []
xref: MedGen:CN248514
xref: MeSH:D020279
xref: MIM:618006 "phenotype"
[Term]
id: DI-05269
name: Rajab interstitial lung disease with brain calcifications 1
def: "An autosomal recessive, lethal neurodevelopmental disorder characterized by multiple clinical manifestations including intrauterine growth restriction, failure to thrive, developmental delay, hypotonia, interstitial lung disease, and liver dysfunction. Brain imaging shows abnormal periventricular white matter, basal ganglia echogenicity, cerebral volume loss, incomplete closure of the Sylvian fissures, and normal myelination." []
synonym: "Developmental delay, small stature, microcephaly, and brain calcifications" [UniProt]
synonym: "NEDBLLA" [UniProt]
synonym: "Neurodevelopmental disorder with brain, liver, and lung abnormalities" [UniProt]
synonym: "Rajab syndrome" [UniProt]
xref: MedGen:C3150910
xref: MeSH:D065886
xref: MIM:613658 "phenotype"
[Term]
id: DI-05270
name: Developmental and epileptic encephalopathy 65
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE65 is an autosomal dominant form characterized by onset of intractable seizures usually in the first 6 months of life and severe to profound psychomotor developmental delay." []
synonym: "EIEE65" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 65" [UniProt]
xref: MedGen:CN248516
xref: MeSH:D013036
xref: MIM:618008 "phenotype"
[Term]
id: DI-05271
name: Glycosylphosphatidylinositol biosynthesis defect 17
def: "An autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Clinical features include learning disabilities, mild-to-moderate developmental delay, seizures of variable severity, aggressive or over-friendly behavior, and autistic features." []
xref: MedGen:CN248527
xref: MeSH:D008607
xref: MIM:618010 "phenotype"
[Term]
id: DI-05272
name: Hyperekplexia 4
def: "An autosomal recessive severe neurologic disorder apparent from birth. HKPX4 is characterized by little if any development, hypertonia, early-onset refractory seizures in some patients, and respiratory failure resulting in early death, mostly in the first months of life." []
xref: MedGen:CN248518
xref: MeSH:D000071017
xref: MIM:618011 "phenotype"
[Term]
id: DI-05273
name: Epileptic encephalopathy, infantile or early childhood, 3
def: "A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. IECEE3 is an autosomal dominant form characterized by onset of seizures in the first years of life.The severity of the phenotype is highly variable: some patients may be non-verbal and non- ambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability." []
xref: MedGen:CN248521
xref: MeSH:D013036
xref: MIM:618012 "phenotype"
[Term]
id: DI-05274
name: Protoporphyria, erythropoietic, 2
def: "An autosomal dominant form of porphyria with onset in infancy. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Erythropoietic protoporphyria is marked by excessive protoporphyrin in erythrocytes, plasma, liver and feces, and by widely varying photosensitive skin changes ranging from a burning or pruritic sensation to erythema, edema and wheals." []
xref: MedGen:CN248523
xref: MeSH:D046351
xref: MIM:618015 "phenotype"
[Term]
id: DI-05275
name: Coffin-Siris syndrome 7
def: "A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. CSS7 inheritance is autosomal dominant." []
xref: MedGen:CN248780
xref: MeSH:D000015
xref: MeSH:D008607
xref: MIM:618027 "phenotype"
[Term]
id: DI-05276
name: Charcot-Marie-Tooth disease, axonal, 2DD
def: "A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy." []
synonym: "Charcot-Marie-Tooth disease, axonal, type 2DD" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy, type 2DD" [UniProt]
xref: MedGen:CN248781
xref: MeSH:D002607
xref: MIM:618036 "phenotype"
[Term]
id: DI-05277
name: Mastocytosis, cutaneous
def: "A form of mastocytosis, a heterogeneous group of disorders associated with abnormal proliferation and accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. MASTC is an autosomal dominant form characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed Darier sign." []
synonym: "Mastocytosis, diffuse cutaneous" [UniProt]
synonym: "Mastocytosis, maculopapular cutaneous" [UniProt]
synonym: "Urticaria pigmentosa" [UniProt]
xref: MedGen:C0024899
xref: MedGen:C0042111
xref: MeSH:D014582
xref: MIM:154800 "phenotype"
[Term]
id: DI-05278
name: Mastocytosis, systemic
def: "A severe form of mastocytosis characterized by abnormal proliferation and accumulation of mast cells in several organs, resulting in a systemic disease that may affect bone, gastrointestinal tract, lymphatics, spleen, and liver. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. It can also lead to mast cell leukemia, which carries a high risk of mortality." []
synonym: "Mast cell disease" [UniProt]
synonym: "Mast cell leukemia" [UniProt]
synonym: "Mast-cell disease" [UniProt]
synonym: "Mastocytosis with associated hematologic disorder" [UniProt]
synonym: "Mastocytosis, indolent" [UniProt]
xref: MedGen:C0024899
xref: MeSH:D008415
xref: MIM:154800 "phenotype"
[Term]
id: DI-05279
name: Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly
def: "A disease characterized by abnormal nuclear shape and chromatin organization in blood granulocytes, short stature, and mild skeletal anomalies. Initial skeletal features may improve with age." []
synonym: "Pelger-Huet anomaly with mild skeletal anomalies" [UniProt]
synonym: "PHASK" [UniProt]
synonym: "Regressive spondylometaphyseal dysplasia" [UniProt]
xref: MedGen:CN248525
xref: MeSH:D010009
xref: MeSH:D010381
xref: MIM:618019 "phenotype"
[Term]
id: DI-05280
name: Tetraamelia syndrome 2
def: "A form of tetraamelia, a rare disease characterized by rudimentary appendages or complete absence of all four limbs, and other anomalies such as craniofacial, nervous system, pulmonary, skeletal and urogenital defects. TETAMS2 patients manifest limb deformities, bilateral agenesis of the lungs, abnormalities of the pulmonary vasculature, labioscrotal fold aplasia, and dysmorphic features including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, and microretrognathia. TETAMS2 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN248528
xref: MeSH:D004480
xref: MIM:618021 "phenotype"
[Term]
id: DI-05281
name: Humerofemoral hypoplasia with radiotibial ray deficiency
def: "A severe disease characterized by reduction of all four limbs as well as hypoplasia of the upper limb girdle and pelvis. Rudimentary finger- or toe-like appendages may be present. HHRRD transmission pattern is consistent with autosomal recessive inheritance." []
synonym: "HFHRTRD" [UniProt]
xref: MedGen:CN248526
xref: MeSH:D004480
xref: MIM:618022 "phenotype"
[Term]
id: DI-05282
name: Congenital disorder of glycosylation 1BB
def: "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1BB inheritance is autosomal recessive." []
xref: MedGen:C4693133
xref: MeSH:D018981
xref: MIM:613861 "phenotype"
[Term]
id: DI-05283
name: Ciliary dyskinesia, primary, 38
def: "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left- right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD38 inheritance is autosomal recessive." []
synonym: "Ciliary dyskinesia, primary, 38, with or without situs inversus" [UniProt]
xref: MedGen:CN252651
xref: MeSH:D007619
xref: MIM:618063 "phenotype"
[Term]
id: DI-05284
name: Seizures, benign familial infantile, 6
def: "A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS6 inheritance is autosomal dominant." []
synonym: "BFIC6" [UniProt]
synonym: "Convulsions, benign familial infantile, 6" [UniProt]
xref: MedGen:CN244555
xref: MeSH:D020936
xref: MIM:610353 "phenotype"
[Term]
id: DI-05285
name: Hydrocephalus, congenital, 3, with brain anomalies
def: "A form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC3 features include enlarged ventricles, hypoplastic or absent cerebellum, holoprosencephaly and Dandy-Walker malformation. Most patients die in utero or shortly after birth. HYC3 inheritance is autosomal recessive." []
synonym: "Hydrocephalus, non-syndromic, autosomal recessive 3" [UniProt]
xref: MedGen:CN252328
xref: MeSH:D006849
xref: MIM:617967 "phenotype"
[Term]
id: DI-05286
name: Proteasome-associated autoinflammatory syndrome 3
def: "An autoinflammatory disorder characterized by onset in early infancy and recurrent fever, nodular dermatitis, myositis, panniculitis- induced lipodystrophy, lymphadenopathy, and immune dysregulation. Variable accompanying features may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications. PRAAS3 inheritance is autosomal recessive or digenic." []
synonym: "Proteasome-associated autoinflammatory syndrome 3, digenic" [UniProt]
xref: MedGen:CN252341
xref: MeSH:D056660
xref: MIM:617591 "phenotype"
[Term]
id: DI-05287
name: Proteasome-associated autoinflammatory syndrome 2
def: "An autosomal dominant autoinflammatory disorder characterized by onset in early infancy and severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency." []
xref: MedGen:CN252342
xref: MeSH:D056660
xref: MIM:618048 "phenotype"
[Term]
id: DI-05288
name: Parkinsonism-dystonia 2, infantile-onset
def: "An autosomal recessive disorder characterized by infantile onset of abnormal movements, including parkinsonism, dystonia, and poor fine motor skills, as well as autonomic dysfunction, including abnormal sweating, cold extremities, and poor sleep. Some patients have variable degrees of developmental delay." []
synonym: "Brain dopamine-serotonin vesicular transport disease" [UniProt]
synonym: "Brain monoamine vesicular transport disease" [UniProt]
xref: MedGen:CN248785
xref: MeSH:D004421
xref: MeSH:D020734
xref: MIM:618049 "phenotype"
[Term]
id: DI-05289
name: Intellectual developmental disorder, autosomal dominant 57
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD57 is characterized by delayed psychomotor development apparent in infancy or early childhood, and a variety of behavioral abnormalities. Affected individuals may have severe gastro-intestinal problems, and facial dysmorphism." []
xref: MedGen:CN252334
xref: MeSH:D008607
xref: MIM:618050 "phenotype"
[Term]
id: DI-05290
name: Cardiomyopathy, familial hypertrophic, 27
def: "A form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH27 is a severe, early- onset form with features of hypertrophic and dilated cardiomyopathy." []
xref: MedGen:CN252335
xref: MeSH:D024741
xref: MIM:618052 "phenotype"
[Term]
id: DI-05291
name: Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
def: "An autosomal dominant neurodevelopmental disorder that manifests with variable features of mild-to-severe intellectual disability, developmental delay, autism spectrum disorder, cerebellar ataxia and epilepsy." []
xref: MedGen:CN252646
xref: MeSH:D065886
xref: MIM:618060 "phenotype"
[Term]
id: DI-05292
name: Polycystic kidney disease 6 with or without polycystic liver disease
def: "A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occur in other organs, particularly the liver. PKD6 inheritance is autosomal dominant." []
xref: MedGen:CN252647
xref: MeSH:D007690
xref: MIM:618061 "phenotype"
[Term]
id: DI-05293
name: Pontocerebellar hypoplasia 1D
def: "An autosomal recessive neurologic disorder with onset at birth or in infancy, and characterized by progressive axonal motor neuronopathy, severe generalized hypotonia, respiratory insufficiency, and cerebellar atrophy. Death in childhood may occur." []
synonym: "Pontocerebellar hypoplasia, type 1D" [UniProt]
xref: MedGen:CN252648
xref: MeSH:D002526
xref: MIM:618065 "phenotype"
[Term]
id: DI-05294
name: Otitis media
def: "An inflammation of the middle ear resulting in earache, fever, hearing disturbance, and vertigo." []
synonym: "COME/ROM" [UniProt]
synonym: "OMS" [UniProt]
synonym: "Otitis media, chronic/recurrent" [UniProt]
xref: MedGen:C1833692
xref: MeSH:D010033
xref: MIM:166760 "phenotype"
[Term]
id: DI-05295
name: Type 1 diabetes mellitus 5
def: "A form of diabetes mellitus, a multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels." []
synonym: "Diabetes mellitus, insulin-dependent, 5" [UniProt]
synonym: "IDDM5" [UniProt]
xref: MedGen:C1838260
xref: MeSH:D003922
xref: MIM:600320 "phenotype"
[Term]
id: DI-05296
name: Epilepsy, familial adult myoclonic, 1
def: "A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME1 inheritance is autosomal dominant." []
synonym: "BAFME1" [UniProt]
synonym: "Benign adult familial myoclonic epilepsy 1" [UniProt]
synonym: "Cortical myoclonic tremor with epilepsy, familial, 1" [UniProt]
synonym: "FCMTE1" [UniProt]
xref: MedGen:C1832841
xref: MeSH:D004831
xref: MIM:601068 "phenotype"
[Term]
id: DI-05297
name: Epilepsy, familial adult myoclonic, 6
def: "A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME6 inheritance is autosomal dominant." []
synonym: "BAFME6" [UniProt]
synonym: "Benign adult familial myoclonic epilepsy 6" [UniProt]
synonym: "Cortical myoclonic tremor with epilepsy, familial, 6" [UniProt]
synonym: "FCMTE6" [UniProt]
xref: MedGen:CN252655
xref: MeSH:D004831
xref: MIM:618074 "phenotype"
[Term]
id: DI-05298
name: Epilepsy, familial adult myoclonic, 7
def: "A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME7 inheritance is autosomal dominant." []
synonym: "BAFME7" [UniProt]
synonym: "Benign adult familial myoclonic epilepsy 27" [UniProt]
synonym: "Cortical myoclonic tremor with epilepsy, familial, 7" [UniProt]
synonym: "FCMTE7" [UniProt]
xref: MedGen:CN252654
xref: MeSH:D004831
xref: MIM:618075 "phenotype"
[Term]
id: DI-05299
name: Osteogenesis imperfecta 19
def: "An X-linked form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI19 is characterized by prenatal fractures, short stature, white sclerae, variable scoliosis and pectal deformity, striking tibial anterior angulation and generalized osteopenia." []
synonym: "Osteogenesis imperfecta, type XIX" [UniProt]
xref: MedGen:CN252653
xref: MeSH:D010013
xref: MIM:301014 "phenotype"
[Term]
id: DI-05300
name: Ovarian dysgenesis 6
def: "A form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG6 is an autosomal recessive condition." []
xref: MedGen:CN252687
xref: MeSH:D023961
xref: MIM:618078 "phenotype"
[Term]
id: DI-05301
name: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
def: "A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB5 features include slowly progressive ptosis, intermittent double vision, cardiac arrhythmias, exercise intolerance, proximal limb and neck muscle weakness, and cerebellar ataxia. Patients skeletal muscle biopsy show numerous COX-deficient ragged-red fibers, increased mtDNA deletions, and extensive variable mtDNA rearrangements." []
synonym: "Progressive external ophthalmoplegia, autosomal recessive 5" [UniProt]
xref: MedGen:CN253818
xref: MeSH:D017246
xref: MIM:618098 "phenotype"
[Term]
id: DI-05302
name: Hemolytic anemia, congenital, X-linked
def: "An X-linked hematologic disease characterized by shortened survival of erythrocytes due to congenital hemolysis that cannot be compensated by bone marrow activity. Clinical features are mild jaundice and anemia. Red cells morphology is normal." []
xref: MedGen:CN253426
xref: MeSH:D000745
xref: MIM:301015 "phenotype"
[Term]
id: DI-05303
name: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
def: "An autosomal recessive disorder characterized by psychomotor developmental delay manifesting in infancy, cerebellar atrophy, decreased myelination, and seizures in most patients. Additional features include intellectual disability, ataxia or dyspraxia, hypertonia, hyperreflexia, poor or absent speech, microcephaly, subtle dysmorphisms, and visual impairment in some patients." []
xref: MedGen:CN252657
xref: MeSH:D065886
xref: MIM:618056 "phenotype"
[Term]
id: DI-05304
name: Developmental and epileptic encephalopathy 66
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE66 is an autosomal dominant form characterized by onset of seizures in first days or weeks of life." []
synonym: "EIEE66" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 66" [UniProt]
xref: MedGen:CN252658
xref: MeSH:D013036
xref: MIM:618067 "phenotype"
[Term]
id: DI-05305
name: Neurodevelopmental disorder with spasticity and poor growth
def: "An autosomal recessive disorder apparent soon after birth or in early infancy. NEDSG is characterized by axial hypotonia, delayed psychomotor development, poor feeding, failure to thrive, peripheral spasticity with hyperreflexia, poor overall growth, and microcephaly in most patients. Additional variable features include contractures, facial dysmorphisms, and ocular movement abnormalities." []
xref: MedGen:CN252685
xref: MeSH:D065886
xref: MIM:618076 "phenotype"
[Term]
id: DI-05306
name: Inflammatory bowel disease 29
def: "A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints." []
xref: MedGen:CN252686
xref: MeSH:D015212
xref: MIM:618077 "phenotype"
[Term]
id: DI-05307
name: Peeling skin syndrome 6
def: "A form of peeling skin syndrome, a genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non- inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. PSS6 patients manifest generalized ichthyotic dry skin, and bullous peeling lesions on the trunk and limbs at sites of minor trauma. Skin symptoms are exacerbated by warmth and humidity. PSS6 inheritance is autosomal recessive." []
xref: MedGen:CN252690
xref: MeSH:D003873
xref: MIM:618084 "phenotype"
[Term]
id: DI-05308
name: Spermatogenic failure 28
def: "An autosomal recessive infertility disorder caused by spermatogenesis defects that result in oligoasthenospermia or non-obstructive azoospermia." []
xref: MedGen:CN252694
xref: MeSH:D007248
xref: MIM:618086 "phenotype"
[Term]
id: DI-05309
name: Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA42ND is an early- onset, severe form associated with motor and cognitive impairment, cerebellar atrophy as well as variable features such as facial dysmorphisms, digital anomalies, microcephaly and epilepsy. SCA42ND inheritance is autosomal dominant." []
xref: MedGen:CN252698
xref: MeSH:D020754
xref: MIM:618087 "phenotype"
[Term]
id: DI-05310
name: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
def: "An autosomal dominant disorder characterized by global developmental delay or neurodevelopmental regression, hypotonia, progressive ataxia, intellectual disability, seizures, and abnormal movements." []
xref: MedGen:CN252701
xref: MeSH:D065886
xref: MIM:618088 "phenotype"
[Term]
id: DI-05311
name: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
def: "An autosomal dominant developmental disorder with variable manifestations and onset in infancy or first years of life. Clinical features include intellectual disability, speech delay, hyperkinetic disorder, hyperactivity, seizures, pre- and postnatal growth retardation, microcephaly, and facial dysmorphism." []
xref: MedGen:CN252702
xref: MeSH:D065886
xref: MIM:618089 "phenotype"
[Term]
id: DI-05312
name: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
def: "An autosomal recessive disorder characterized by severe psychomotor delay, intellectual disability, hypotonia, epilepsy, and corpus callosum hypoplasia. Some patients show mild cerebellar hypoplasia and atrophy." []
xref: MedGen:CN252703
xref: MeSH:D065886
xref: MIM:618090 "phenotype"
[Term]
id: DI-05313
name: Spermatogenic failure 29
def: "An autosomal recessive infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia or oligozoospermia. When produced, spermatozoa are immotile and have abnormal morphology, primarily defects of the acrosome and head-neck junction." []
xref: MedGen:CN252705
xref: MeSH:D007248
xref: MIM:618091 "phenotype"
[Term]
id: DI-05314
name: Spermatogenic failure 31
def: "An autosomal recessive infertility disorder caused by spermatogenesis defects that result in oligozoospermia with a high proportion of acephalic sperm." []
xref: MedGen:CN253820
xref: MeSH:D007248
xref: MIM:618112 "phenotype"
[Term]
id: DI-05315
name: Intellectual developmental disorder with speech delay, dysmorphic facies, and T-cell abnormalities
def: "An autosomal dominant developmental disorder with onset in first months of life, and characterized by delayed psychomotor development with intellectual disability and speech delay. Additional features include autistic features, attention deficit-hyperactivity disorder, anxiety, and other behavioral abnormalities. Some patients suffer from recurrent infections, asthma and allergies." []
xref: MedGen:CN253429
xref: MeSH:D065886
xref: MIM:618092 "phenotype"
[Term]
id: DI-05316
name: Deafness, autosomal recessive, 110
def: "A form of non-syndromic, sensorineural deafness characterized by prelingual hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB110 affected individuals additionally exhibit mild, age-dependent vestibular dysfunction." []
xref: MedGen:CN253427
xref: MeSH:D006319
xref: MIM:618094 "phenotype"
[Term]
id: DI-05317
name: Intellectual developmental disorder, autosomal recessive 63
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT63 patients manifest global developmental delay, severe intellectual disability, and seizures." []
xref: MedGen:CN253430
xref: MeSH:D008607
xref: MIM:618095 "phenotype"
[Term]
id: DI-05318
name: Intellectual developmental disorder, autosomal recessive 64
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT64 patients have moderate to severe intellectual disability, delayed motor development, aggressive behavior, and slurred or absent speech." []
xref: MedGen:CN253431
xref: MeSH:D008607
xref: MIM:618103 "phenotype"
[Term]
id: DI-05319
name: Premature ovarian failure 15
def: "An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol." []
xref: MedGen:CN253428
xref: MeSH:D016649
xref: MIM:618096 "phenotype"
[Term]
id: DI-05320
name: Microcephaly, growth restriction, and increased sister chromatid exchange 2
def: "An autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies." []
xref: MedGen:CN253708
xref: MeSH:D049914
xref: MIM:618097 "phenotype"
[Term]
id: DI-05321
name: Keratolytic winter erythema
def: "An autosomal dominant genodermatosis characterized by recurrent episodes of palmoplantar erythema and epidermal peeling presenting seasonal variation. KWE manifests during childhood. Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. A less common finding is a slowly migratory, annular erythema that is seen mostly on the extremities. Between flares, the skin can appear unremarkable. Itching can occur, and hyperhidrosis, associated with a pungent odor, is invariably present. Formation of vesicles is rare, whereas keratolysis that causes the formation of dry blisters is regularly seen. Cold weather, moisture, febrile diseases, and physical and mental stress can trigger exacerbations. In severely affected individuals, skin manifestations persist unremittingly. Penetrance of the disease is high, but expressivity is variable, even within the same family." []
synonym: "Erythrokeratolysis hiemalis" [UniProt]
synonym: "Oudtshoorn skin disease" [UniProt]
xref: MedGen:C0406756
xref: MeSH:D004890
xref: MIM:148370 "phenotype"
[Term]
id: DI-05322
name: Hyperaldosteronism, familial, 2
def: "An autosomal dominant disorder characterized by elevated plasma aldosterone level and hypertension of varying severity even within members of the same family. Hypokalemia is observed in some patients. In HALD2, hypertension does not improve with glucocorticoid treatment." []
synonym: "FH II" [UniProt]
synonym: "FH-II" [UniProt]
synonym: "Hyperaldosteronism, familial, type II" [UniProt]
xref: MedGen:C1854107
xref: MeSH:D006929
xref: MIM:605635 "phenotype"
[Term]
id: DI-05323
name: Osteopetrosis, autosomal dominant 3
def: "A form of osteopetrosis, a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and an autosomal dominant form occurring in adolescence or adulthood. OPTA3 is characterized by typical features of osteopetrosis such as fractures after minor trauma, early tooth loss, anemia, hepatosplenomegaly, and a generalized increase in bone mineral density. Some patients exhibit localized osteosclerosis and generalized osteopenia." []
xref: MedGen:CN253817
xref: MeSH:D010022
xref: MIM:618107 "phenotype"
[Term]
id: DI-05324
name: Spermatogenic failure 30
def: "An autosomal recessive infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia or cryptozoospermia." []
xref: MedGen:CN253819
xref: MeSH:D007248
xref: MIM:618110 "phenotype"
[Term]
id: DI-05325
name: Spermatogenic failure 32
def: "An autosomal dominant infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia." []
xref: MedGen:CN253828
xref: MeSH:D007248
xref: MIM:618115 "phenotype"
[Term]
id: DI-05326
name: Intellectual developmental disorder, autosomal dominant 58
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD58 patients show delayed development, intellectual disability, language delay and speech impairment. Some patients have motor delay or incoordination, and minor dysmorphic features." []
xref: MedGen:CN253713
xref: MeSH:D008607
xref: MIM:618106 "phenotype"
[Term]
id: DI-05327
name: Intellectual developmental disorder, autosomal recessive 65
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT65 patients have moderate to severe intellectual disability, developmental delay, and facial dysmorphism. Camptodactyly is present in some patients." []
xref: MedGen:CN253823
xref: MeSH:D008607
xref: MIM:618109 "phenotype"
[Term]
id: DI-05328
name: Immunodeficiency 57 with autoinflammation
def: "An autosomal recessive primary immunodeficiency characterized by lymphopenia and recurrent viral, bacterial, and fungal infections. Patients exhibit early-onset inflammatory bowel disease involving the upper and lower gastrointestinal tract, and develop progressive polyarthritis." []
xref: MedGen:CN253831
xref: MeSH:D007153
xref: MIM:618108 "phenotype"
[Term]
id: DI-05329
name: Immunodeficiency 58
def: "An autosomal recessive primary immunodeficiency characterized by a variety of infectious diseases, including mycobacterial diseases, mucocutaneous candidiasis, silent but detectable EBV viremia, and staphylococcal diseases. Patients suffer from dermatitis, esophagitis, recurrent skin abscesses and chest infections. Immunologic analysis shows defective T-cell function and deficient CD3/CD28 stimulation responses in both CD4+ and CD8+ T cells. B-cell function may also be impaired." []
xref: MedGen:CN253926
xref: MeSH:D007153
xref: MIM:618131 "phenotype"
[Term]
id: DI-05330
name: Encephalitis/encephalopathy, mild, with reversible myelin vacuolization
def: "An autosomal dominant disease characterized by episodes of acute encephalitis associated with impaired consciousness, delirious behavior, seizures, and reversible splenial lesions observed on diffusion magnetic resonance imaging. Most patients completely recover and there are no neurologic sequelae. MMERV occurs in children and is frequently associated with a trigger, such as a febrile illness." []
xref: MedGen:CN253827
xref: MeSH:D004660
xref: MIM:618113 "phenotype"
[Term]
id: DI-05331
name: Liddle syndrome 2
def: "A form of Liddle syndrome, an autosomal dominant disorder characterized by early onset of hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion." []
xref: MedGen:CN253832
xref: MeSH:D056929
xref: MIM:618114 "phenotype"
[Term]
id: DI-05332
name: Liddle syndrome 3
def: "A form of Liddle syndrome, an autosomal dominant disorder characterized by early onset of hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion." []
xref: MedGen:CN253837
xref: MeSH:D056929
xref: MIM:618126 "phenotype"
[Term]
id: DI-05333
name: Bone marrow failure syndrome 4
def: "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS4 is characterized by early-onset anemia, leukopenia, decreased B cells, and developmental aberrations including facial dysmorphism, mild skeletal anomalies, and neurodevelopmental delay. BMFS4 inheritance is autosomal recessive." []
xref: MedGen:CN253834
xref: MeSH:D000080983
xref: MIM:618116 "phenotype"
[Term]
id: DI-05334
name: Ovarian dysgenesis 7
def: "A form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG7 is an autosomal recessive condition." []
xref: MedGen:CN253833
xref: MeSH:D023961
xref: MIM:618117 "phenotype"
[Term]
id: DI-05335
name: Mitochondrial complex V deficiency, nuclear type 5
def: "A mitochondrial disorder characterized by childhood onset of episodic metabolic decompensation featuring lactic acidosis and hyperammonemia accompanied by ketoacidosis or hypoglycemia. Chronic manifestations include developmental delay, easy fatiguability, and 3- methylglutaconic aciduria. The transmission pattern of MC5DN5 is consistent with autosomal recessive inheritance." []
synonym: "Mitochondrial complex V (ATP synthase) deficiency, ATP5F1D type" [UniProt]
xref: MedGen:CN253835
xref: MeSH:D017237
xref: MIM:618120 "phenotype"
[Term]
id: DI-05336
name: Polydactyly, postaxial, A8
def: "A form of postaxial polydactyly, a condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well- formed and articulates with the fifth or a sixth metacarpal/metatarsal. PAPA8 is an autosomal recessive condition characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet." []
synonym: "Polydactyly, postaxial, type A8" [UniProt]
xref: MedGen:CN253836
xref: MeSH:D017689
xref: MIM:618123 "phenotype"
[Term]
id: DI-05337
name: Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
def: "An autosomal recessive disorder characterized by early childhood-onset of peripheral sensorimotor neuropathy, progressive distal muscle weakness, atrophy in hands and feet, and gait difficulties, often with loss of ambulation. Most affected individuals also have impaired intellectual development, although some have normal cognition. Additional features may include eye movement abnormalities, claw hands, foot deformities, and scoliosis." []
xref: MedGen:CN253838
xref: MeSH:D008607
xref: MeSH:D015417
xref: MIM:618124 "phenotype"
[Term]
id: DI-05338
name: Muscular dystrophy, limb-girdle, autosomal dominant 4
def: "A form of autosomal dominant limb-girdle muscular dystrophy, a myopathy characterized by proximal and/or distal muscle weakness and atrophy. The age at onset is variable and can range from the first to the sixth decade, although later onset is less common. LGMDD4 is characterized by onset of proximal muscle weakness in young adulthood, gait difficulties, increased serum creatine kinase, myalgia, and back pain. Some patients may have upper limb involvement. Disease severity and expressivity are highly variable." []
synonym: "LGMD1I" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, type 1I" [UniProt]
xref: MedGen:CN253839
xref: MeSH:D049288
xref: MIM:618129 "phenotype"
[Term]
id: DI-05339
name: Spinocerebellar ataxia, autosomal recessive 4
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR4 patients manifest ataxic gait with spasticity and hyperreflexia of the lower limbs resulting in difficulty walking. The age at onset is highly variable, ranging from early childhood to adulthood." []
synonym: "SCA24" [UniProt]
synonym: "SCASI" [UniProt]
synonym: "Spinocerebellar ataxia 24" [UniProt]
synonym: "Spinocerebellar ataxia with saccadic intrusions" [UniProt]
xref: MedGen:C1846492
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:607317 "phenotype"
[Term]
id: DI-05340
name: Mungan syndrome
def: "An autosomal recessive disease characterized by visceral neuromyopathy, intestinal dysmotility and chronic intestinal pseudoobstruction, megaduodenum, long-segment Barrett esophagus, and a variety of cardiac valve or septal defects such as membranous ventricular septal defect, pulmonary and tricuspid valve regurgitation." []
synonym: "Pseudoobstruction, chronic idiopathic intestinal, with Barrett esophagus and cardiac abnormalities" [UniProt]
synonym: "Visceral neuromyopathy, familial, with pseudoobstruction, megaduodenum, Barrett esophagus, and cardiac abnormalities" [UniProt]
xref: MedGen:C1969653
xref: MeSH:D001471
xref: MeSH:D007418
xref: MIM:611376 "phenotype"
[Term]
id: DI-05341
name: Deafness, autosomal recessive, 32, with or without immotile sperm
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB32 is characterized by prelingual, progressive, moderate to profound sensorineural deafness. Some affected men are infertile." []
synonym: "Deafness, autosomal recessive 105" [UniProt]
synonym: "Hearing impairment and infertile male syndrome" [UniProt]
synonym: "HIIMS" [UniProt]
xref: MedGen:C1837608
xref: MeSH:D006319
xref: MIM:608653 "phenotype"
[Term]
id: DI-05342
name: Muscular dystrophy-dystroglycanopathy limb-girdle C8
def: "An autosomal recessive muscular disease with onset in childhood, characterized by limb-girdle muscular dystrophy and intellectual disability without brain malformation. Disease severity is highly variable and some patients may be clinically asymptomatic." []
synonym: "LGMDR24" [UniProt]
synonym: "Muscular dystrophy, limb-girdle, autosomal recessive 24" [UniProt]
synonym: "Muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related" [UniProt]
xref: MedGen:CN253928
xref: MeSH:D049288
xref: MIM:618135 "phenotype"
[Term]
id: DI-05343
name: Muscular dystrophy, limb-girdle, autosomal recessive 23
def: "A form of autosomal recessive limb-girdle muscular dystrophy, a myopathy characterized by proximal and/or distal muscle weakness and atrophy. The age at onset is variable and can range from the first to the sixth decade, although later onset is less common. LGMDR23 is characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs, increased serum creatine kinase, dystrophic features, gait difficulties, and white matter abnormalities on brain imaging. Age at onset generally ranges from childhood to mid- adulthood. Some patients may have additional neurologic features, including executive deficits, seizures, and peripheral neuropathy." []
xref: MedGen:CN257926
xref: MeSH:D049288
xref: MIM:618138 "phenotype"
[Term]
id: DI-05344
name: Deafness, autosomal dominant, 74
def: "A form of non-syndromic deafness characterized by progressive, postlingual hearing loss with onset in the third decade of life." []
synonym: "Deafness, autosomal dominant 74" [UniProt]
xref: MedGen:CN257925
xref: MeSH:D034381
xref: MIM:618140 "phenotype"
[Term]
id: DI-05345
name: Developmental and epileptic encephalopathy 67
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE67 is an autosomal dominant form characterized by onset of seizures in infancy. Later onset of seizures in childhood may occur in some patients." []
synonym: "EIEE67" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 67" [UniProt]
xref: MedGen:CN257927
xref: MeSH:D013036
xref: MIM:618141 "phenotype"
[Term]
id: DI-05346
name: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
def: "An autosomal dominant syndrome characterized by primary microcephaly, ambiguous male genitalia, dysmorphic facies, polydactyly, and unilateral renal agenesis. Variable brain, cardiac, and skeletal anomalies are present, including corpus callosum agenesis or dysgenesis, lissencephaly, atrial and ventricular septal defects, patent ductus arteriosus, hypoplastic right ventricle, and joint contractures." []
xref: MedGen:CN257928
xref: MeSH:D000015
xref: MIM:618142 "phenotype"
[Term]
id: DI-05347
name: Glycosylphosphatidylinositol biosynthesis defect 18
def: "An autosomal recessive disorder with onset in utero or early infancy and characterized by severe global developmental delay, seizures, hypotonia, weakness, ataxia, and dysmorphic facial features." []
xref: MedGen:CN257729
xref: MeSH:D008607
xref: MIM:618143 "phenotype"
[Term]
id: DI-05348
name: Usher syndrome 4
def: "A form of Usher syndrome, a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish different types of Usher syndrome. USH4 is characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement. USH4 inheritance is autosomal recessive." []
synonym: "Usher syndrome, type IV" [UniProt]
xref: MedGen:CN257730
xref: MeSH:D052245
xref: MIM:618144 "phenotype"
[Term]
id: DI-05349
name: Deafness, autosomal recessive, 111
def: "A form of non-syndromic, sensorineural deafness characterized by early-onset, moderate to severe hearing loss with no vestibular involvement. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN257732
xref: MeSH:D006319
xref: MIM:618145 "phenotype"
[Term]
id: DI-05350
name: Spermatogenic failure 33
def: "An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple abnormalities of sperm flagellum, including short, bent, curled, thick, or absent flagella." []
xref: MedGen:CN257742
xref: MeSH:D007248
xref: MIM:618152 "phenotype"
[Term]
id: DI-05351
name: Spermatogenic failure 34
def: "An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple abnormalities of sperm flagellum, including irregular-caliber, short, coiled, or absent flagella." []
xref: MedGen:CN257743
xref: MeSH:D007248
xref: MIM:618153 "phenotype"
[Term]
id: DI-05352
name: Intellectual developmental disorder with hypertelorism and distinctive facies
def: "An autosomal dominant neurodevelopmental disorder characterized by developmental delay and intellectual disability, language defects, and distinctive facial dysmorphism including high hairline, hypertelorism, thin eyebrows, dysmorphic ears, broad nasal bridge and tip, and narrow jaw." []
xref: MedGen:CN257739
xref: MeSH:D065886
xref: MIM:618147 "phenotype"
[Term]
id: DI-05353
name: Extraoral halitosis due to methanethiol oxidase deficiency
def: "An autosomal recessive malodor condition characterized by extraoral blood-borne halitosis resulting from the accumulation of sulfur- containing metabolites. In extraoral blood-borne halitosis, malodorant compounds are carried to the lungs, where they enter the breath. Affected individuals have a cabbage-like breath odor, high levels of methanethiol and dimethylsulfide in oral and nasal breath, and elevated urinary excretion of dimethylsulfoxide in the absence of intake of dimethylsulfide-containing food or use of sulfur-containing medication, lower-gastrointestinal problems, and known metabolic defects, such as methionine adenosyltransferase deficiency and tyrosinemia." []
synonym: "Extraoral halitosis due to MTO deficiency" [UniProt]
synonym: "Extraoral halitosis with dimethylsulfoxiduria" [UniProt]
synonym: "Methanethiol oxidase deficiency" [UniProt]
synonym: "MTO deficiency" [UniProt]
xref: MedGen:CN257731
xref: MeSH:D006209
xref: MIM:618148 "phenotype"
[Term]
id: DI-05354
name: Saul-Wilson syndrome
def: "A rare skeletal dysplasia with characteristic dysmorphic and radiographic findings, as well as early developmental delay, primarily involving speech, with eventual normal cognition. Clinical findings include marked short stature, prominent forehead with an enlarged anterior fontanel, prominent eyes with cataracts, narrow nasal bridge with a convex nasal ridge, micrognathia, clubfoot, brachydactyly, and short distal phalanges of fingers. Radiographic changes include platyspondyly, irregular end plates of vertebral bodies, and hypoplasia of the odontoid process with cervical instability in the spine, coxa valga, overtubulation, metaphyseal flaring and megaepiphyses in the long bones, while the hands and feet exhibit short phalanges, metacarpals and metatarsals, cone-shaped epiphyses of phalanges, and accessory ossification centers of metacarpals and metatarsals." []
synonym: "Microcephalic osteodysplastic dysplasia" [UniProt]
xref: MedGen:CN257733
xref: MeSH:D004392
xref: MeSH:D010009
xref: MIM:618150 "phenotype"
[Term]
id: DI-05355
name: Hennekam lymphangiectasia-lymphedema syndrome 3
def: "A form of Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymph-vessels dysplasia characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face. In addition, affected individuals have unusual facies and some manifest intellectual disability. HKLLS3 is characterized by widespread congenital edema, facial dysmorphism and protein-losing enteropathy of variable severity. HKLLS3 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257744
xref: MeSH:D008201
xref: MeSH:D008209
xref: MIM:618154 "phenotype"
[Term]
id: DI-05356
name: Ophthalmoplegia, external, with rib and vertebral anomalies
def: "An autosomal recessive disorder characterized by congenital nonprogressive external ophthalmoplegia, ptosis, scoliosis, torticollis, and vertebral and rib anomalies." []
xref: MedGen:CN257745
xref: MeSH:D009886
xref: MIM:618155 "phenotype"
[Term]
id: DI-05357
name: Squalene synthase deficiency
def: "An autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, facial dysmorphisms, low total and LDL-cholesterol, and abnormal urine organic acids." []
synonym: "Neurodevelopmental disorder with low cholesterol and abnormal urine organic acids" [UniProt]
xref: MedGen:CN257746
xref: MeSH:D008661
xref: MIM:618156 "phenotype"
[Term]
id: DI-05358
name: Growth hormone deficiency, isolated, 4
def: "An autosomal recessive deficiency of growth hormone leading to early and severe growth failure and short stature. Patients have low but detectable levels of growth hormone, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy." []
synonym: "Dwarfism of Sindh" [UniProt]
synonym: "Growth hormone deficiency, isolated, type IV" [UniProt]
synonym: "Isolated growth hormone deficiency, type IV" [UniProt]
xref: MedGen:CN257748
xref: MeSH:D004393
xref: MIM:618157 "phenotype"
[Term]
id: DI-05359
name: Pituitary hormone deficiency, combined or isolated, 7
def: "An autosomal recessive deficiency of growth hormone characterized by severe postnatal growth failure, delayed bone age without bone dysplasia, and hypoplasia of the anterior pituitary." []
synonym: "Growth hormone deficiency, isolated, 5" [UniProt]
synonym: "Growth hormone deficiency, isolated, type V" [UniProt]
synonym: "IGHD5" [UniProt]
synonym: "Isolated growth hormone deficiency, type V" [UniProt]
xref: MedGen:CN257749
xref: MeSH:D004393
xref: MIM:618160 "phenotype"
[Term]
id: DI-05360
name: Intellectual developmental disorder with macrocephaly, seizures, and speech delay
def: "An autosomal dominant neurodevelopmental disorder characterized by impaired intellectual development, poor speech, postnatal macrocephaly, and seizures." []
xref: MedGen:CN257751
xref: MeSH:D065886
xref: MIM:618158 "phenotype"
[Term]
id: DI-05361
name: Joubert syndrome 35
def: "A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS35 inheritance is autosomal recessive." []
xref: MedGen:CN257752
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:618161 "phenotype"
[Term]
id: DI-05362
name: Spondyloepimetaphyseal dysplasia, Krakow type
def: "An autosomal recessive skeletal disorder characterized by severe spondyloepimetaphyseal dysplasia, rhizomelia, mesomelia with significant anterior bowing of all limbs, severe immunodeficiency, and developmental delay." []
synonym: "Immunoosseous dysplasia, Krakow type" [UniProt]
xref: MedGen:CN257750
xref: MeSH:D010009
xref: MIM:618162 "phenotype"
[Term]
id: DI-05363
name: Osteochondrodysplasia, brachydactyly, and overlapping malformed digits
def: "An autosomal recessive disorder characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum." []
xref: MedGen:CN257753
xref: MeSH:D010009
xref: MIM:618167 "phenotype"
[Term]
id: DI-05364
name: Teebi hypertelorism syndrome 1
def: "A form of Teebi hypertelorism syndrome, a syndrome characterized by an abnormally increased distance between ocular orbits, and facial features that can resemble craniofrontonasal dysplasia such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin. Some affected individuals have limb, urogenital, umbilical and cardiac defects. Developmental delay and/or impaired intellectual development have been observed in some patients. TBHS1 inheritance is autosomal dominant." []
synonym: "BBB syndrome" [UniProt]
synonym: "Brachycephalofrontonasal dysplasia" [UniProt]
synonym: "Chromosome 22q11.2 deletion syndrome, Opitz phenotype" [UniProt]
synonym: "G syndrome" [UniProt]
synonym: "GBBB syndrome" [UniProt]
synonym: "Hypertelorism with esophageal abnormality and hypospadias" [UniProt]
synonym: "Hypertelorism, Teebi type" [UniProt]
synonym: "Hypertelorism-hypospadias syndrome" [UniProt]
synonym: "Hypospadias-dysphagia syndrome" [UniProt]
synonym: "OGS2" [UniProt]
synonym: "Opitz BBBG syndrome" [UniProt]
synonym: "Opitz GBBB syndrome, autosomal dominant" [UniProt]
synonym: "Opitz oculogenitolaryngeal syndrome, type II" [UniProt]
synonym: "Opitz-Frias syndrome" [UniProt]
synonym: "Opitz-G syndrome, type II" [UniProt]
synonym: "TBHS" [UniProt]
synonym: "Teebi hypertelorism syndrome" [UniProt]
xref: MedGen:C0796179
xref: MeSH:D006972
xref: MIM:145420 "phenotype"
[Term]
id: DI-05365
name: Macrodactyly
def: "A congenital anomaly characterized by fibrofatty tissue enlargement and bony overgrowth affecting the digits or the entire hand or foot." []
synonym: "Congenital macrodactylia" [UniProt]
synonym: "Megalodactyly" [UniProt]
synonym: "Type I macrodactyly" [UniProt]
xref: MedGen:C0265552
xref: MeSH:D017880
xref: MIM:155500 "phenotype"
[Term]
id: DI-05366
name: CHAND syndrome
def: "An autosomal recessive syndrome characterized by ankyloblepharon, sparse, curly and woolly hair, nail dysplasia, and oral frenula." []
synonym: "Curly hair, ankyloblepharon, nail dysplasia syndrome" [UniProt]
xref: MedGen:C0406733
xref: MeSH:D004476
xref: MeSH:D005141
xref: MeSH:D006201
xref: MeSH:D009264
xref: MIM:214350 "phenotype"
[Term]
id: DI-05367
name: CLAPO syndrome
def: "A syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs and partial or generalised overgrowth." []
synonym: "Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth" [UniProt]
synonym: "Lopez-Gutierrez syndrome" [UniProt]
xref: MedGen:C2751313
xref: MeSH:D000015
xref: MIM:613089 "phenotype"
[Term]
id: DI-05368
name: Spinocerebellar ataxia 48
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA48 is an autosomal dominant neurodegenerative disease characterized by onset in mid- adulthood of progressive cognitive decline and gait ataxia, and vermian and hemispheric cerebellar atrophy." []
xref: MedGen:CN257775
xref: MeSH:D020754
xref: MIM:618093 "phenotype"
[Term]
id: DI-05369
name: Deafness, X-linked, 7
def: "A congenital form of bilateral mixed or conductive hearing loss, which is progressive in some patients. Additional clinical features include ear anomalies and facial dysmorphism with bilateral ptosis." []
xref: MedGen:CN257788
xref: MeSH:D006319
xref: MIM:301018 "phenotype"
[Term]
id: DI-05370
name: Cardiac, facial, and digital anomalies with developmental delay
def: "An autosomal dominant disorder characterized by delayed motor and speech development, developmental regression, congenital heart defects, limb and digital anomalies, and dysmorphic features. Cardiac features include pulmonary stenosis, patent ductus arteriosus, aortic coarctation, valvular defects, hypoplastic left heart, double outlet right ventricle, and conduction abnormalities. Dysmorphic facial features include multiple hair whorls or hairline abnormalities, ptosis, epicanthal folds, and low-set or dysplastic ears." []
xref: MedGen:CN257756
xref: MeSH:D000015
xref: MIM:618164 "phenotype"
[Term]
id: DI-05371
name: Bone marrow failure syndrome 5
def: "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS5 is an autosomal dominant form characterized by infantile onset of severe red cell anemia requiring transfusion. Additional features include hypogammaglobulinemia, poor growth with microcephaly, developmental delay, and seizures." []
xref: MedGen:CN257755
xref: MeSH:D000080983
xref: MIM:618165 "phenotype"
[Term]
id: DI-05372
name: Retinitis pigmentosa 83
def: "An autosomal dominant form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well." []
xref: MedGen:CN257758
xref: MeSH:D012174
xref: MIM:618173 "phenotype"
[Term]
id: DI-05373
name: Diarrhea 9
def: "An autosomal recessive form of chronic diarrhea characterized by neonatal-onset of osmotic diarrhea that is not substrate specific, abnormal crypt and villus architecture, and significant fat malabsorption evidenced by high levels of fecal fat." []
xref: MedGen:CN257757
xref: MeSH:D003968
xref: MIM:618168 "phenotype"
[Term]
id: DI-05374
name: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
def: "An autosomal recessive neurodegenerative disorder characterized by pediatric onset of progressive brain atrophy, developmental regression, and seizures in association with periods of stress, such as infections." []
xref: MedGen:CN257777
xref: MeSH:D020271
xref: MIM:618170 "phenotype"
[Term]
id: DI-05375
name: Cortical dysplasia, complex, with other brain malformations 9
def: "An autosomal recessive disorder characterized by neurodevelopmental delay apparent from early infancy, acquired microcephaly, hypotonic cerebral palsy, inability to ambulate or speak, and intractable seizures. Brain imaging shows pachygyria with severe cortical gray matter thickening, paucity of gyri without an obvious posterior- anterior gradient or focal dysplasias, hypogenesis of the corpus callosum, and cerebellar hypoplasia." []
xref: MedGen:CN257774
xref: MeSH:D054220
xref: MIM:618174 "phenotype"
[Term]
id: DI-05376
name: Neuropathy, congenital hypomyelinating, 2
def: "A form of congenital hypomyelinating neuropathy, a neurologic disorder characterized by early-onset hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (NCV) resulting from improper myelination of axons. In its extreme form, it may present with severe joint contractures or arthrogryposis multiplex congenita and respiratory insufficiency. In less severe cases patients may achieve walking. Patients lack both active myelin breakdown and well-organized onion bulbs on sural nerve biopsies, have absence of inflammation, and show hypomyelination of most or all fibers. CHN2 inheritance is autosomal dominant." []
synonym: "Hypomyelinating neuropathy, congenital, 2" [UniProt]
xref: MedGen:CN257483
xref: MeSH:D015417
xref: MIM:618184 "phenotype"
[Term]
id: DI-05377
name: Neuropathy, congenital hypomyelinating, 3
def: "A form of congenital hypomyelinating neuropathy, a neurologic disorder characterized by early-onset hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (NCV) resulting from improper myelination of axons. In its extreme form, it may present with severe joint contractures or arthrogryposis multiplex congenita and respiratory insufficiency. In less severe cases patients may achieve walking. Patients lack both active myelin breakdown and well-organized onion bulbs on sural nerve biopsies, have absence of inflammation, and show hypomyelination of most or all fibers. CHN3 is a severe autosomal recessive form characterized by onset of neurogenic muscle impairment in utero. Affected individuals have profoundly impaired psychomotor development and may die in infancy or early childhood." []
xref: MedGen:CN257484
xref: MeSH:D015417
xref: MIM:618186 "phenotype"
[Term]
id: DI-05378
name: Nephrotic syndrome 17
def: "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS17 is an autosomal recessive, steroid-resistant progressive form with onset in the first decade of life." []
xref: MedGen:CN257778
xref: MeSH:D009404
xref: MIM:618176 "phenotype"
[Term]
id: DI-05379
name: Nephrotic syndrome 18
def: "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS18 is an autosomal recessive, steroid-resistant progressive form with onset in the first decade of life." []
xref: MedGen:CN257779
xref: MeSH:D009404
xref: MIM:618177 "phenotype"
[Term]
id: DI-05380
name: Nephrotic syndrome 19
def: "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS19 is an autosomal recessive, steroid-resistant form with onset in the first or second decade of life, resulting in chronic kidney disease." []
xref: MedGen:CN257780
xref: MeSH:D009404
xref: MIM:618178 "phenotype"
[Term]
id: DI-05381
name: Microcephaly 24, primary, autosomal recessive
def: "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH24 patients additionally manifest mildly impaired intellectual development, cerebellar vermis hypoplasia, and fifth finger clinodactyly." []
xref: MedGen:CN257781
xref: MeSH:D008831
xref: MIM:618179 "phenotype"
[Term]
id: DI-05382
name: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
def: "A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD14 is an autosomal recessive form characterized by scalp hypotrichosis, hypodontia, and mild facial dysmorphism. Some patients have decreased sweating." []
xref: MedGen:CN257776
xref: MeSH:D004476
xref: MIM:618180 "phenotype"
[Term]
id: DI-05383
name: Orthostatic hypotension 2
def: "An autosomal recessive disorder characterized by severe orthostatic hypotension apparent from infancy or early childhood, low plasma and urinary levels of norepinephrine and epinephrine, and episodic hypoglycemia. Some patients may also have renal dysfunction and reduced life expectancy. Orthostatic hypotension, also known as postural hypotension, is a finding defined as a 20-mm Hg decrease in systolic pressure or a 10-mm Hg decrease in diastolic pressure occurring 3 minutes after a person has risen from supine to standing. Symptoms include dizziness, blurred vision, and sometimes syncope." []
xref: MedGen:CN257786
xref: MeSH:D007024
xref: MIM:618182 "phenotype"
[Term]
id: DI-05384
name: Diarrhea 10, protein-losing enteropathy type
def: "An autosomal recessive, congenital diarrheal disorder characterized by intractable secretory diarrhea with massive protein loss due to leaky fenestrated capillaries, severe hypoalbuminemia, hypogammaglobulinemia, hypertriglyceridemia, and electrolyte abnormalities. Disease severity is variable and death in infancy may occur in severe cases. Some patients show facial dysmorphic features, and cardiac and renal abnormalities." []
xref: MedGen:CN257782
xref: MeSH:D003968
xref: MIM:618183 "phenotype"
[Term]
id: DI-05385
name: Periventricular nodular heterotopia 8
def: "A form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH8 is an autosomal dominant disease characterized by developmental disabilities, speech delay, seizures and attention deficit- hyperactivity disorder." []
xref: MedGen:CN257784
xref: MeSH:D054091
xref: MIM:618185 "phenotype"
[Term]
id: DI-05386
name: Ovarian dysgenesis 8
def: "An autosomal dominant form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads." []
xref: MedGen:CN257790
xref: MeSH:D023961
xref: MIM:618187 "phenotype"
[Term]
id: DI-05387
name: Immunodeficiency 15A
def: "An autosomal dominant primary immunodeficiency disorder characterized by lymphopenia, inflammation and immune activation of both CD4+ and CD8+ T cells. Patients suffer from recurrent respiratory tract infections, oral candidiasis, and otitis media." []
xref: MedGen:CN257488
xref: MeSH:D016511
xref: MIM:618204 "phenotype"
[Term]
id: DI-05388
name: Hyperparathyroidism, transient neonatal
def: "An autosomal recessive disease characterized by impaired transplacental maternal-fetal transport of calcium, high serum PTH levels and signs of metabolic bone disease in the neonatal period. Skeletal anomalies include generalized osteopenia, narrow chest, short ribs with multiple healing fractures, and bowing or fractures of long bones. Affected individuals experience postnatal respiratory and feeding difficulties. The condition improves within a short time after birth once calcium is provided orally." []
xref: MedGen:CN257787
xref: MeSH:D006961
xref: MIM:618188 "phenotype"
[Term]
id: DI-05389
name: Cardiomyopathy, dilated, 2C
def: "A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2C is an autosomal recessive form with variable severity and age of onset ranging from 2 to 20 years. Death in infancy or early childhood may occur in severely affected children." []
xref: MedGen:CN257789
xref: MeSH:D002311
xref: MIM:618189 "phenotype"
[Term]
id: DI-05390
name: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
def: "An autosomal recessive disease characterized by presenile frontal dementia with leukoencephalopathy and basal ganglia calcification. In most cases the disorder first manifests in early adulthood as pain and swelling in ankles and feet, followed by bone fractures. Neurologic symptoms manifest in the fourth decade of life as a frontal lobe syndrome with loss of judgment, euphoria, and disinhibition. Progressive decline in other cognitive domains begins to develop at about the same time. The disorder culminates in a profound dementia and death by age 50 years." []
xref: MedGen:CN257479
xref: MeSH:D001927
xref: MIM:618193 "phenotype"
[Term]
id: DI-05391
name: Intellectual developmental disorder and retinitis pigmentosa
def: "An autosomal recessive disease characterized by mild to moderate intellectual disability, retinitis pigmentosa, and attention deficit- hyperactivity disorder observed in some patients." []
xref: MedGen:CN257481
xref: MeSH:D008607
xref: MeSH:D012174
xref: MIM:618195 "phenotype"
[Term]
id: DI-05392
name: Capillary malformation-arteriovenous malformation 2
def: "An autosomal dominant disorder characterized by multiple, round to oval or more irregularly shaped macules that are pinkish red in color and are randomly distributed across the body. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome." []
xref: MedGen:CN257482
xref: MeSH:D054079
xref: MIM:618196 "phenotype"
[Term]
id: DI-05393
name: Myasthenic syndrome, congenital, 23, presynaptic
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features include easy fatigability and muscle weakness. CMS23 inheritance is autosomal recessive." []
xref: MeSH:D020294
xref: MIM:618197 "phenotype"
[Term]
id: DI-05394
name: Myasthenic syndrome, congenital, 24, presynaptic
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features include easy fatigability and muscle weakness. CMS24 inheritance is autosomal recessive." []
xref: MedGen:CN257489
xref: MeSH:D020294
xref: MIM:618198 "phenotype"
[Term]
id: DI-05395
name: Developmental and epileptic encephalopathy 68
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE68 is an autosomal recessive form characterized by onset of twitching and/or myoclonic jerks in infancy. The disorder progresses to refractory generalized tonic-clonic seizures, often resulting in status epilepticus, loss of developmental milestones, and early death. Other features include delayed development, axial hypotonia, spasticity of the limbs, and clonus." []
synonym: "EIEE68" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 68" [UniProt]
xref: MedGen:CN257487
xref: MeSH:D013036
xref: MIM:618201 "phenotype"
[Term]
id: DI-05396
name: Erythroleukemia, familial
def: "An autosomal dominant myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood. Disease penetrance is incomplete." []
synonym: "DI Guglielmo disease, familial" [UniProt]
synonym: "Leukemia, acute myelogenous, M6" [UniProt]
xref: MedGen:C0023440
xref: MeSH:D004915
xref: MIM:133180 "phenotype"
[Term]
id: DI-05397
name: Retinitis pigmentosa 84
def: "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP84 is an autosomal recessive, early onset form characterized by night blindness by age 4 and complete blindness by age 8. Funduscopy shows severely attenuated retinal vessels, severe macular atrophy, and prominent and deep macular colobomas lacking neuroretinal tissue." []
xref: MedGen:CN257494
xref: MeSH:D012174
xref: MIM:618220 "phenotype"
[Term]
id: DI-05398
name: Mitochondrial complex I deficiency, nuclear type 8
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN8 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257503
xref: MeSH:D028361
xref: MIM:618230 "phenotype"
[Term]
id: DI-05399
name: Mitochondrial complex I deficiency, nuclear type 12
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease." []
xref: MedGen:CN257499
xref: MeSH:D028361
xref: MIM:301020 "phenotype"
[Term]
id: DI-05400
name: Mitochondrial complex I deficiency, nuclear type 30
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease." []
xref: MedGen:CN257500
xref: MeSH:D028361
xref: MIM:301021 "phenotype"
[Term]
id: DI-05401
name: Mitochondrial complex I deficiency, nuclear type 2
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN2 inheritance is autosomal recessive." []
xref: MedGen:CN257508
xref: MeSH:D028361
xref: MIM:618222 "phenotype"
[Term]
id: DI-05402
name: Mitochondrial complex I deficiency, nuclear type 3
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN3 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257509
xref: MeSH:D028361
xref: MIM:618224 "phenotype"
[Term]
id: DI-05403
name: Mitochondrial complex I deficiency, nuclear type 4
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN4 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257510
xref: MeSH:D028361
xref: MIM:618225 "phenotype"
[Term]
id: DI-05404
name: Mitochondrial complex I deficiency, nuclear type 5
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN5 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257511
xref: MeSH:D028361
xref: MIM:618226 "phenotype"
[Term]
id: DI-05405
name: Mitochondrial complex I deficiency, nuclear type 6
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN6 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257512
xref: MeSH:D028361
xref: MIM:618228 "phenotype"
[Term]
id: DI-05406
name: Mitochondrial complex I deficiency, nuclear type 7
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN7 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257502
xref: MeSH:D028361
xref: MIM:618229 "phenotype"
[Term]
id: DI-05407
name: Mitochondrial complex I deficiency, nuclear type 9
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN9 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257504
xref: MeSH:D028361
xref: MIM:618232 "phenotype"
[Term]
id: DI-05408
name: Mitochondrial complex I deficiency, nuclear type 10
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN10 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257505
xref: MeSH:D028361
xref: MIM:618233 "phenotype"
[Term]
id: DI-05409
name: Mitochondrial complex I deficiency, nuclear type 11
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN11 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257506
xref: MeSH:D028361
xref: MIM:618234 "phenotype"
[Term]
id: DI-05410
name: Mitochondrial complex I deficiency, nuclear type 13
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN13 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257507
xref: MeSH:D028361
xref: MIM:618235 "phenotype"
[Term]
id: DI-05411
name: Mitochondrial complex I deficiency, nuclear type 14
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN14 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257513
xref: MeSH:D028361
xref: MIM:618236 "phenotype"
[Term]
id: DI-05412
name: Mitochondrial complex I deficiency, nuclear type 15
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN15 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257514
xref: MeSH:D028361
xref: MIM:618237 "phenotype"
[Term]
id: DI-05413
name: Mitochondrial complex I deficiency, nuclear type 16
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN16 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257515
xref: MeSH:D028361
xref: MIM:618238 "phenotype"
[Term]
id: DI-05414
name: Mitochondrial complex I deficiency, nuclear type 17
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN17 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257516
xref: MeSH:D028361
xref: MIM:618239 "phenotype"
[Term]
id: DI-05415
name: Mitochondrial complex I deficiency, nuclear type 18
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN18 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257517
xref: MeSH:D028361
xref: MIM:618240 "phenotype"
[Term]
id: DI-05416
name: Mitochondrial complex I deficiency, nuclear type 19
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN19 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257518
xref: MeSH:D028361
xref: MIM:618241 "phenotype"
[Term]
id: DI-05417
name: Mitochondrial complex I deficiency, nuclear type 21
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN21 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257519
xref: MeSH:D028361
xref: MIM:618242 "phenotype"
[Term]
id: DI-05418
name: Mitochondrial complex I deficiency, nuclear type 22
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN22 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257520
xref: MeSH:D028361
xref: MIM:618243 "phenotype"
[Term]
id: DI-05419
name: Mitochondrial complex I deficiency, nuclear type 23
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN23 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257521
xref: MeSH:D028361
xref: MIM:618244 "phenotype"
[Term]
id: DI-05420
name: Mitochondrial complex I deficiency, nuclear type 24
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN24 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257522
xref: MeSH:D028361
xref: MIM:618245 "phenotype"
[Term]
id: DI-05421
name: Mitochondrial complex I deficiency, nuclear type 25
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN25 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257523
xref: MeSH:D028361
xref: MIM:618246 "phenotype"
[Term]
id: DI-05422
name: Mitochondrial complex I deficiency, nuclear type 26
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN26 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257524
xref: MeSH:D028361
xref: MIM:618247 "phenotype"
[Term]
id: DI-05423
name: Mitochondrial complex I deficiency, nuclear type 27
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN27 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257525
xref: MeSH:D028361
xref: MIM:618248 "phenotype"
[Term]
id: DI-05424
name: Mitochondrial complex I deficiency, nuclear type 28
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN28 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257526
xref: MeSH:D028361
xref: MIM:618249 "phenotype"
[Term]
id: DI-05425
name: Mitochondrial complex I deficiency, nuclear type 29
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN29 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257527
xref: MeSH:D028361
xref: MIM:618250 "phenotype"
[Term]
id: DI-05426
name: Mitochondrial complex I deficiency, nuclear type 31
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN31 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257528
xref: MeSH:D028361
xref: MIM:618251 "phenotype"
[Term]
id: DI-05427
name: Mitochondrial complex I deficiency, nuclear type 32
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN32 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257529
xref: MeSH:D028361
xref: MIM:618252 "phenotype"
[Term]
id: DI-05428
name: Mitochondrial complex I deficiency, nuclear type 33
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN33 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN257530
xref: MeSH:D028361
xref: MIM:618253 "phenotype"
[Term]
id: DI-05429
name: Mitochondrial complex I deficiency, mitochondrial type 1
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease." []
xref: MedGen:CN257501
xref: MeSH:D028361
xref: MIM:500014 "phenotype"
[Term]
id: DI-05430
name: Snijders Blok-Campeau syndrome
def: "An autosomal dominant neurodevelopmental disorder characterized by intellectual disability with a wide range of severity, developmental delay, and impaired speech and language skills. Speech-related problems include dysarthria, speech apraxia, oromotor problems, and stuttering. Additional clinical features are macrocephaly, characteristic facial features such as prominent forehead and hypertelorism, hypotonia, and joint laxity." []
synonym: "IDDMSF" [UniProt]
synonym: "Intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies" [UniProt]
xref: MedGen:CN257491
xref: MeSH:D065886
xref: MIM:618205 "phenotype"
[Term]
id: DI-05431
name: Inflammatory bowel disease, immunodeficiency, and encephalopathy
def: "An autosomal recessive disorder characterized by severe infantile inflammatory bowel disease manifesting as bloody diarrhea and failure to thrive, global developmental delay, epilepsy, brain atrophy and encephalopathy. Affected individuals suffer from recurrent infections associated with impaired T-cell response to stimulation and decreased T-cell subsets, including regulatory and helper T cells." []
xref: MedGen:CN257492
xref: MeSH:D001927
xref: MeSH:D003424
xref: MeSH:D007153
xref: MIM:618213 "phenotype"
[Term]
id: DI-05432
name: Baker-Gordon syndrome
def: "An autosomal dominant neurodevelopmental disorder characterized by infantile hypotonia, congenital ophthalmic abnormalities, involuntary and hyperkinetic movements, stereotypic behavior, poor or absent speech, EEG abnormalities, and global developmental delay varying in severity from moderate to profound. Behavioral characteristics include sleep disturbance and episodic agitation." []
synonym: "NEDIMAE" [UniProt]
synonym: "Neurodevelopmental disorder with involuntary movement and abnormal electroencephalogram" [UniProt]
xref: MedGen:CN257498
xref: MeSH:D065886
xref: MIM:618218 "phenotype"
[Term]
id: DI-05433
name: Polydactyly, postaxial, A9
def: "A form of postaxial polydactyly, a condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well- formed and articulates with the fifth or a sixth metacarpal/metatarsal. PAPA9 is an autosomal recessive condition characterized by one or more posterior or postaxial digits." []
xref: MedGen:CN257493
xref: MeSH:D017689
xref: MIM:618219 "phenotype"
[Term]
id: DI-05434
name: Intellectual developmental disorder, autosomal recessive 66
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT66 patients have intellectual disability, delayed speech development, neuropsychiatric symptoms, and relatively normal life span." []
xref: MedGen:CN257495
xref: MeSH:D008607
xref: MIM:618221 "phenotype"
[Term]
id: DI-05435
name: Vertebral anomalies and variable endocrine and T-cell dysfunction
def: "An autosomal dominant syndrome characterized by skeletal malformations primarily involving the vertebrae, immunodeficiency, endocrine abnormalities such as hypoparathyroidism and growth hormone deficiency, craniofacial dysmorphism, congenital cardiac anomalies consisting of double-outlet right ventricle, pulmonary valve stenosis and atrial septal defect, and developmental impairments." []
xref: MedGen:CN257496
xref: MeSH:D000015
xref: MIM:618223 "phenotype"
[Term]
id: DI-05436
name: Epidermodysplasia verruciformis 2
def: "A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV2 inheritance is autosomal recessive." []
xref: MedGen:CN257497
xref: MeSH:D004819
xref: MIM:618231 "phenotype"
[Term]
id: DI-05437
name: Ciliary dyskinesia, primary, 39
def: "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left- right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD39 inheritance is autosomal recessive." []
synonym: "Ciliary dyskinesia, primary, 39, with or without situs inversus" [UniProt]
xref: MedGen:CN257535
xref: MeSH:D007619
xref: MIM:618254 "phenotype"
[Term]
id: DI-05438
name: Deafness, autosomal recessive, 112
def: "A form of non-syndromic, sensorineural deafness characterized by postlingual progressive hearing impairment. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN257532
xref: MeSH:D006319
xref: MIM:618257 "phenotype"
[Term]
id: DI-05439
name: Noonan syndrome 2
def: "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS2 inheritance is autosomal recessive." []
synonym: "Noonan syndrome 2, autosomal recessive" [UniProt]
xref: MedGen:C1854469
xref: MeSH:D009634
xref: MIM:605275 "phenotype"
[Term]
id: DI-05440
name: RHYNS syndrome
def: "An autosomal recessive syndrome characterized by gaze palsy, retinitis pigmentosa, sensorineural hearing loss, hypopituitarism, nephronophthisis, and skeletal dysplasia." []
xref: MedGen:C1865794
xref: MeSH:D000072661
xref: MeSH:D007018
xref: MIM:602152 "phenotype"
[Term]
id: DI-05441
name: Immunodeficiency 59 and hypoglycemia
def: "An autosomal recessive primary immunologic disorder characterized by combined immunodeficiency, granulocytopenia, B-cell and dendritic cell deficiency, recurrent septic infections of the respiratory tract, skin and mucous membranes, and disturbed glucose metabolism." []
synonym: "Granulocytopenia with immunoglobulin abnormality" [UniProt]
xref: MedGen:C1856263
xref: MeSH:D007153
xref: MIM:233600 "phenotype"
[Term]
id: DI-05442
name: Intellectual developmental disorder with autism and speech delay
def: "An autosomal dominant neurodevelopmental disorder characterized by varying degrees of intellectual disability, autism spectrum disorder, and language deficits." []
synonym: "Autism 5" [UniProt]
synonym: "Autism-related speech delay" [UniProt]
synonym: "AUTS5" [UniProt]
synonym: "Phrase speech delay, autism-related" [UniProt]
xref: MedGen:C1853755
xref: MeSH:D065886
xref: MIM:606053 "phenotype"
[Term]
id: DI-05443
name: Lymphoproliferative syndrome 3
def: "An autosomal recessive, early-onset immunologic disorder characterized by increased susceptibility to Epstein-Barr virus infection in B cells, abnormal B-cell proliferation and increased susceptibility to B-cell malignancies, including Hodgkin lymphoma. Patients usually have lymphadenopathy and hypogammaglobulinemia, and may suffer from recurrent infections." []
xref: MedGen:CN258055
xref: MeSH:D008232
xref: MIM:618261 "phenotype"
[Term]
id: DI-05444
name: Mirror movements 4
def: "A disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities. MRMV4 inheritance is autosomal dominant." []
xref: MedGen:CN258051
xref: MeSH:D020820
xref: MIM:618264 "phenotype"
[Term]
id: DI-05445
name: Pontocerebellar hypoplasia 12
def: "A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH12 is an autosomal recessive form characterized by onset in utero and death in infancy. Brain imaging shows microcephaly, cerebellar hypoplasia, micrognathia, and multiple contractures." []
xref: MedGen:CN258054
xref: MeSH:D002526
xref: MIM:618266 "phenotype"
[Term]
id: DI-05446
name: Epidermodysplasia verruciformis 3
def: "A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV3 inheritance is autosomal recessive." []
xref: MedGen:CN257949
xref: MeSH:D004819
xref: MIM:618267 "phenotype"
[Term]
id: DI-05447
name: Congenital anomalies of kidney and urinary tract 3
def: "A disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children. CAKUT3 inheritance is autosomal dominant." []
xref: MedGen:CN258052
xref: MeSH:D014564
xref: MIM:618270 "phenotype"
[Term]
id: DI-05448
name: Hypotrichosis 14
def: "A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT14 is an autosomal recessive form characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair." []
xref: MedGen:CN258053
xref: MeSH:D007039
xref: MIM:618275 "phenotype"
[Term]
id: DI-05449
name: Developmental and epileptic encephalopathy 69
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE69 is an autosomal dominant form characterized by refractory seizures, hypotonia, and profoundly impaired development often associated with macrocephaly, hyperkinetic movements, and contractures. The disorder can sometimes result in early death. Some patients may have a favorable seizure response to topiramate medication." []
synonym: "EIEE69" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 69" [UniProt]
xref: MedGen:CN258122
xref: MeSH:D013036
xref: MIM:618285 "phenotype"
[Term]
id: DI-05450
name: Developmental and epileptic encephalopathy 70
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE70 is an autosomal dominant form with onset in first months of life and variable severity." []
synonym: "EIEE70" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 70" [UniProt]
xref: MedGen:CN258149
xref: MeSH:D013036
xref: MIM:618298 "phenotype"
[Term]
id: DI-05451
name: Ciliary dyskinesia, primary, 40
def: "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left- right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD40 inheritance is autosomal recessive." []
synonym: "Ciliary dyskinesia, primary, 40, with or without situs inversus" [UniProt]
xref: MedGen:CN258165
xref: MeSH:D007619
xref: MIM:618300 "phenotype"
[Term]
id: DI-05452
name: Intellectual developmental disorder, autosomal recessive 68
def: "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:CN258166
xref: MeSH:D008607
xref: MIM:618302 "phenotype"
[Term]
id: DI-05453
name: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
def: "An autosomal dominant disease characterized by moderate to severe intellectual disability, craniosynostosis, cleft palate, micrognathia, arthrogryposis, and short stature. Some patients may present bone abnormalities and generalized seizures." []
xref: MedGen:CN257944
xref: MeSH:D000015
xref: MIM:618265 "phenotype"
[Term]
id: DI-05454
name: Trichohepatoneurodevelopmental syndrome
def: "An autosomal recessive complex multisystem disorder characterized by woolly or coarse hair, liver dysfunction, pruritus, dysmorphic features, hypotonia, and global developmental delay." []
xref: MedGen:CN257945
xref: MeSH:D000015
xref: MIM:618268 "phenotype"
[Term]
id: DI-05455
name: Global developmental delay, lung cysts, overgrowth, and Wilms tumor
def: "A disease characterized by the association of congenital nephromegaly, bilateral Wilms tumor, somatic overgrowth, developmental delay, macrocephaly, and bilateral lung cysts." []
synonym: "GLOW syndrome" [UniProt]
xref: MedGen:CN257964
xref: MeSH:D002658
xref: MeSH:D008171
xref: MeSH:D009396
xref: MIM:618272 "phenotype"
[Term]
id: DI-05456
name: Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
def: "An autosomal dominant neurodevelopmental disorder with onset in infancy. MCCCHCM is characterized by global developmental delay, impaired intellectual development, poor or absent speech, unsteady gait, ataxia, inability to walk, and variable brain abnormalities. Seizures and autistic features are observed in some patients. Brain imaging findings include an enlarged corpus callosum in the absence of megalencephaly, cerebellar hypoplasia, ventricular dilation, gyral abnormalities, and cortical malformations." []
xref: MedGen:CN258070
xref: MeSH:D065886
xref: MIM:618273 "phenotype"
[Term]
id: DI-05457
name: Neurodegeneration, childhood-onset, with cerebellar atrophy
def: "An autosomal recessive disorder characterized by early onset of progressive neurodegeneration affecting the central and peripheral nervous systems. Clinical features include global developmental delay, impaired intellectual development, poor or absent speech, and motor abnormalities. Brain imaging shows cerebellar atrophy. Death in childhood may occur." []
xref: MedGen:CN258098
xref: MeSH:D020271
xref: MIM:618276 "phenotype"
[Term]
id: DI-05458
name: Fibrosis, neurodegeneration, and cerebral angiomatosis
def: "An autosomal recessive, early-onset and fatal disorder clinically characterized by progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia and transient liver dysfunction. Death occurs in the first years of life due to respiratory failure. Post-mortem neuropathological examination reveals increased angiomatosis-like leptomeningeal, cortical and superficial white matter vascularisation and congestion, vacuolar degeneration and myelin loss in white matter, as well as neuronal degeneration. Interstitial fibrosis and granuloma- like lesions are observed in the lungs. Hepatomegaly, steatosis and collagen accumulation are detected in the liver." []
synonym: "FINCA syndrome" [UniProt]
xref: MedGen:CN258103
xref: MeSH:D020271
xref: MIM:618278 "phenotype"
[Term]
id: DI-05459
name: Intellectual developmental disorder, autosomal recessive 67
def: "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Some MRT67 patients manifest seizures and sensorineural hearing loss." []
xref: MedGen:CN258146
xref: MeSH:D008607
xref: MIM:618295 "phenotype"
[Term]
id: DI-05460
name: Charcot-Marie-Tooth disease, demyelinating, 1G
def: "An autosomal dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1G is characterized by distal muscle weakness and atrophy with onset in the first or second decade." []
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1G" [UniProt]
xref: MedGen:CN258117
xref: MeSH:D002607
xref: MIM:618279 "phenotype"
[Term]
id: DI-05461
name: Cardiac-urogenital syndrome
def: "An autosomal dominant syndrome characterized by partial anomalous pulmonary venous return, tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism." []
xref: MedGen:CN258099
xref: MeSH:D012587
xref: MeSH:D014564
xref: MIM:618280 "phenotype"
[Term]
id: DI-05462
name: Hyper-IgE syndrome 3, autosomal recessive, with recurrent infections
def: "An immunologic disorder characterized by skin bacterial infections in particular with Staphylococcus aureus, susceptibility to fungal infections such as chronic mucocutaneous candidiasis, atopic dermatitis, recurrent respiratory infections, bronchiectasis, and increased serum IgE and IgG. Immunologic work-up shows impaired differentiation of CD4+ T cells into T-helper 17 cells, decreased memory B cells, and often decreased NK cells. Some patients manifest extrahemapoietic features, including facial dysmorphism, abnormal dentition, alopecia, joint hypermobility and bone fractures. Disease onset is in early childhood." []
synonym: "Hyper-IgE recurrent infection syndrome 3, autosomal recessive" [UniProt]
xref: MedGen:CN258118
xref: MeSH:D007589
xref: MIM:618282 "phenotype"
[Term]
id: DI-05463
name: Visual impairment and progressive phthisis bulbi
def: "An autosomal recessive, progressive disease characterized by poor vision at birth and development of bilateral phthisis bulbi by adulthood." []
xref: MedGen:CN258119
xref: MeSH:D005128
xref: MIM:618283 "phenotype"
[Term]
id: DI-05464
name: Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
def: "An autosomal recessive syndrome characterized by cognitive impairment, attention deficit-hyperactivity disorder, microcephaly, growth retardation, congenital cataract, and dystonia. Brain MRI shows unusual thinning of the lentiform nucleus, predominantly involving the putamen, and swelling in the caudate heads." []
xref: MedGen:CN258120
xref: MeSH:D000015
xref: MIM:618284 "phenotype"
[Term]
id: DI-05465
name: Macrocephaly, acquired, with impaired intellectual development
def: "An autosomal dominant disorder characterized by postnatal macrocephaly and borderline to mild intellectual disability. Additional variable neurodevelopmental features include muscular hypotonia, motor and speech delay, attention deficit disorder, autism spectrum disorder, and behavioral abnormalities. Some patients present corpus callosum dysgenesis." []
xref: MedGen:CN258138
xref: MeSH:D008607
xref: MIM:618286 "phenotype"
[Term]
id: DI-05466
name: Autoinflammatory disease, familial, Behcet-like 3
def: "An autosomal dominant, mucocutaneous disease characterized by chronic mucosal lesions, in absence of recurrent infections." []
synonym: "CMCU" [UniProt]
synonym: "Mucocutaneous ulceration, chronic" [UniProt]
xref: MedGen:CN258147
xref: MeSH:D012883
xref: MIM:618287 "phenotype"
[Term]
id: DI-05467
name: Spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant
def: "An autosomal dominant neuromuscular disorder characterized by decreased fetal movements, fractures in utero, severe congenital joint contractures, arthrogryposis multiplex congenita, severe hypotonia, muscle atrophy, and respiratory insufficiency and failure due to muscle weakness. Some patients may have dysmorphic facial features and/or abnormalities on brain imaging. Death in early childhood may occur." []
synonym: "Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant" [UniProt]
xref: MedGen:CN258164
xref: MeSH:D001176
xref: MeSH:D009134
xref: MIM:618291 "phenotype"
[Term]
id: DI-05468
name: Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
def: "An autosomal recessive disease characterized by global developmental delay, hypotonia, ataxic gait, hyporeflexia, poor or absent speech, and variable and mild dysmorphic features." []
xref: MedGen:CN258148
xref: MeSH:D065886
xref: MIM:618292 "phenotype"
[Term]
id: DI-05469
name: Intellectual developmental disorder with cardiac defects and dysmorphic facies
def: "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, intellectual disability, congenital heart malformations, and facial dysmorphism. Dysmorphic features include triangular face, deep set eyes, broad nasal root and tip and anteverted nostrils, thick arched eye brows, hypertrichosis, pointed chin, and hypertelorism." []
xref: MedGen:CN258197
xref: MeSH:D065886
xref: MIM:618316 "phenotype"
[Term]
id: DI-05470
name: Epidermodysplasia verruciformis 4
def: "A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV4 patients have decreased number of naive T cells, increased memory and effector T cells, and impaired T-cell receptor signaling. EV4 inheritance is autosomal recessive." []
xref: MedGen:CN258177
xref: MeSH:D004819
xref: MIM:618307 "phenotype"
[Term]
id: DI-05471
name: Epidermodysplasia verruciformis 5
def: "A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV5 patients shows T-cell lymphopenia, particularly affecting CD4+ T cells. EV5 inheritance is autosomal recessive." []
xref: MedGen:CN258178
xref: MeSH:D004819
xref: MIM:618309 "phenotype"
[Term]
id: DI-05472
name: Diamond-Blackfan anemia 18
def: "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. DBA18 inheritance is autosomal dominant." []
xref: MedGen:CN258194
xref: MeSH:D029503
xref: MIM:618310 "phenotype"
[Term]
id: DI-05473
name: Diamond-Blackfan anemia 19
def: "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. DBA19 inheritance is autosomal dominant." []
xref: MedGen:CN258195
xref: MeSH:D029503
xref: MIM:618312 "phenotype"
[Term]
id: DI-05474
name: Diamond-Blackfan anemia 20
def: "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. DBA20 inheritance is autosomal dominant." []
xref: MedGen:CN258196
xref: MeSH:D029503
xref: MIM:618313 "phenotype"
[Term]
id: DI-05475
name: Hypomagnesemia, seizures, and impaired intellectual development 2
def: "An autosomal dominant disease characterized by generalized seizures in infancy, severe hypomagnesemia, and renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant intellectual disability." []
xref: MedGen:CN258187
xref: MeSH:D008607
xref: MeSH:D012640
xref: MeSH:D015499
xref: MIM:618314 "phenotype"
[Term]
id: DI-05476
name: Warburg-Cinotti syndrome
def: "An autosomal dominant disease characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acro- osteolysis." []
xref: MedGen:CN263110
xref: MeSH:D000015
xref: MIM:618175 "phenotype"
[Term]
id: DI-05477
name: Basal ganglia calcification, idiopathic, 7, autosomal recessive
def: "A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas." []
xref: MedGen:CN258198
xref: MeSH:D001480
xref: MeSH:D002114
xref: MIM:618317 "phenotype"
[Term]
id: DI-05478
name: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
def: "An autosomal recessive severe neurometabolic disorder characterized by severe leukoencephalopathy usually associated with a trivial febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures. Disease course is rapidly progressive, leading to coma, global brain atrophy, and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions." []
xref: MedGen:CN258203
xref: MeSH:D020271
xref: MIM:618321 "phenotype"
[Term]
id: DI-05479
name: Myasthenic syndrome, congenital, 25, presynaptic
def: "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features include easy fatigability and muscle weakness. CMS25 is an autosomal recessive form characterized by hypotonia and generalized muscle weakness apparent from birth. Affected individuals have feeding difficulties and delayed motor development, usually never achieving independent ambulation. Additional variable features include eye movement abnormalities, joint contractures, and rigid spine." []
xref: MedGen:CN258208
xref: MeSH:D020294
xref: MIM:618323 "phenotype"
[Term]
id: DI-05480
name: Congenital disorder of glycosylation with defective fucosylation 2
def: "A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. CDGF2 is an autosomal recessive disorder, apparent from birth, characterized by hypotonia, poor feeding, severely impaired intellectual and psychomotor development, seizures with epileptic encephalopathy, visual impairment and other ocular features, respiratory difficulty with frequent infections, as well as contractures. Brain imaging shows cerebellar and brainstem atrophy, hypoplasia or agenesis of the corpus callosum, and white matter abnormalities including periventricular leukomalacia." []
xref: MedGen:CN258212
xref: MeSH:D018981
xref: MIM:618324 "phenotype"
[Term]
id: DI-05481
name: Lissencephaly 9 with complex brainstem malformation
def: "A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS9 is an autosomal dominant form clinically characterized by global developmental delay apparent since infancy, impaired intellectual development with poor or absent speech, and sometimes abnormal or involuntary movements. Brain imaging shows malformation of the brainstem, in addition to pachygyria and lissencephaly." []
xref: MedGen:CN258209
xref: MeSH:D054082
xref: MIM:618325 "phenotype"
[Term]
id: DI-05482
name: Developmental and epileptic encephalopathy 71
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE71 is an autosomal recessive form with onset at birth. Death occurs in first weeks of life." []
synonym: "EIEE71" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 71" [UniProt]
synonym: "Glutaminase deficiency with neonatal epileptic encephalopathy" [UniProt]
xref: MedGen:CN258210
xref: MeSH:D013036
xref: MIM:618328 "phenotype"
[Term]
id: DI-05483
name: Combined oxidative phosphorylation deficiency 37
def: "An autosomal recessive disorder due to mitochondrial dysfunction and characterized by hypotonia, failure to thrive, progressive neurodegeneration with neurologic deterioration after the first months of life, global developmental delay, as well as liver dysfunction. Some patients may have hypertrophic cardiomyopathy, loss of vision and hearing, and/or seizures. Death in first months or years of life is observed in most patients." []
xref: MedGen:CN258215
xref: MeSH:D028361
xref: MIM:618329 "phenotype"
[Term]
id: DI-05484
name: Spermatogenic failure 35
def: "An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple abnormalities of sperm flagellum and severely impaired spermatozoa motility." []
xref: MedGen:CN258225
xref: MeSH:D007248
xref: MIM:618341 "phenotype"
[Term]
id: DI-05485
name: Global developmental delay with or without impaired intellectual development
def: "An autosomal dominant disorder characterized by global developmental delay associated with mild-to-moderate intellectual disability, hypotonia and short stature in some patients." []
xref: MedGen:CN258211
xref: MeSH:D065886
xref: MIM:618330 "phenotype"
[Term]
id: DI-05486
name: Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
def: "An autosomal recessive disease characterized by progressive encephalopathy exacerbated by febrile illness and associated with severe neurodevelopmental delay, episodes of rhabdomyolysis, developmental regression, epilepsy and tetraplegia." []
xref: MedGen:CN258216
xref: MeSH:D004827
xref: MeSH:D012206
xref: MIM:618331 "phenotype"
[Term]
id: DI-05487
name: Menke-Hennekam syndrome 1
def: "A form of Menke-Hennekam syndrome, a congenital autosomal dominant disease characterized by developmental delay, growth retardation, and craniofacial dysmorphism. Patients have intellectual disability of variable severity, speech delay, autistic behavior, short stature and microcephaly. Main facial characteristics include short palpebral fissures, telecanthi, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum." []
xref: MedGen:CN258217
xref: MeSH:D000015
xref: MIM:618332 "phenotype"
[Term]
id: DI-05488
name: Menke-Hennekam syndrome 2
def: "A form of Menke-Hennekam syndrome, a congenital autosomal dominant disease characterized by developmental delay, growth retardation, and craniofacial dysmorphism. Patients have intellectual disability of variable severity, speech delay, autistic behavior, short stature and microcephaly. Main facial characteristics include short palpebral fissures, telecanthi, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum." []
xref: MedGen:CN258218
xref: MeSH:D000015
xref: MIM:618333 "phenotype"
[Term]
id: DI-05489
name: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
def: "An autosomal recessive disorder characterized by intrauterine growth retardation, postnatal growth failure, metaphyseal dysplasia, adrenal hypoplasia congenita, growth hormone deficiency, genital anomalies, and immunodeficiency resulting in increased infections." []
xref: MedGen:CN258213
xref: MeSH:D000309
xref: MeSH:D001848
xref: MeSH:D005317
xref: MeSH:D007153
xref: MIM:618336 "phenotype"
[Term]
id: DI-05490
name: Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
def: "An autosomal dominant disease characterized by infantile-onset cataract, erythematic subcutaneous nodules, profound developmental delay, self-injurious behavior, and intracerebral glutamate excess. Histopathologic analysis of skin lesions show deep perivascular and periglandular lymphohistiocytic infiltrates and pronounced leukocytoclasia at the surface of the dermis, focal vacuolar alterations, hyperkeratosis, and parakeratosis of the epidermis." []
xref: MedGen:CN258223
xref: MeSH:D001927
xref: MeSH:D002386
xref: MeSH:D012873
xref: MIM:618339 "phenotype"
[Term]
id: DI-05491
name: Omodysplasia 2
def: "A rare autosomal dominant skeletal dysplasia characterized by short humeri, radial head dislocation, short first metacarpals, facial dysmorphism and genitourinary anomalies." []
synonym: "Omodysplasia, autosomal dominant" [UniProt]
xref: MedGen:C2750355
xref: MeSH:D010009
xref: MIM:164745 "phenotype"
[Term]
id: DI-05492
name: Hypoparathyroidism, X-linked
def: "An X-linked form of true hypoparathyroidism characterized by neonatal or infantile onset and absence of parathyroid glands. Clinical features are hypocalcemia, hyperphosphatemia, seizures, tetany and cramps." []
xref: MedGen:C0342344
xref: MeSH:D007011
xref: MIM:307700 "phenotype"
[Term]
id: DI-05493
name: Odontochondrodysplasia 1
def: "An autosomal recessive disorder of skeletal and dental development characterized by mesomelic shortening of tubular bones, ligamentous laxity, scoliosis, and dentinogenesis imperfecta involving both primary and secondary dentition. Radiologic features include trident pelvis, posteriorly flattened vertebrae, and brachydactyly with cone- shaped epiphyses." []
synonym: "Goldblatt syndrome" [UniProt]
synonym: "ODCD" [UniProt]
synonym: "Spondylometaphyseal dysplasia with dentinogenesis imperfecta" [UniProt]
xref: MedGen:C2745953
xref: MeSH:D010009
xref: MeSH:D014071
xref: MIM:184260 "phenotype"
[Term]
id: DI-05494
name: Wiedemann-Rautenstrauch syndrome
def: "An autosomal recessive, neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, hypotonia, variable mental impairment, and a progeroid appearance. Clinical features include apparent macrocephaly, sparse hair, prominent scalp veins, entropion, greatly widened anterior fontanelles, malar hypoplasia, and generalized lipoatrophy. Death usually occurs in early childhood but survival to third decade has been reported." []
synonym: "Progeroid syndrome, neonatal" [UniProt]
xref: MedGen:C0406586
xref: MeSH:D005317
xref: MeSH:D011371
xref: MIM:264090 "phenotype"
[Term]
id: DI-05495
name: Microcephaly 25, primary, autosomal recessive
def: "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH25 patients additionally manifest global developmental delay, severe intellectual disability with speech impairment, attention deficit-hyperactivity disorder, and reduced white matter and thin corpus callosum on brain imaging." []
xref: MedGen:CN258238
xref: MeSH:D008831
xref: MIM:618351 "phenotype"
[Term]
id: DI-05496
name: Retinitis pigmentosa 85
def: "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP85 is an autosomal recessive form manifesting as early-onset progressive difficulty to adapt in dim light and gradually decreasing visual acuity in both eyes." []
xref: MedGen:CN258234
xref: MeSH:D012174
xref: MIM:618345 "phenotype"
[Term]
id: DI-05497
name: Coffin-Siris syndrome 8
def: "A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS8 patients manifest prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features such as hypertrichosis, thick eyebrows, thin upper lip vermilion, and upturned nose. CSS8 inheritance is autosomal dominant." []
xref: MedGen:CN258253
xref: MeSH:D000015
xref: MeSH:D008607
xref: MIM:618362 "phenotype"
[Term]
id: DI-05498
name: Galloway-Mowat syndrome 6
def: "A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS6 is an autosomal recessive form with onset in infancy or early childhood. Affected individuals manifest microcephaly, global developmental delay, variable degrees of intellectual disability, and growth deficiency. Renal impairment may be age-dependent or may not be present." []
xref: MedGen:CN258241
xref: MeSH:D008831
xref: MeSH:D009404
xref: MeSH:D009422
xref: MIM:618347 "phenotype"
[Term]
id: DI-05499
name: Galloway-Mowat syndrome 7
def: "A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS7 inheritance is autosomal recessive." []
xref: MedGen:CN258243
xref: MeSH:D008831
xref: MeSH:D009404
xref: MeSH:D009422
xref: MIM:618348 "phenotype"
[Term]
id: DI-05500
name: Galloway-Mowat syndrome 8
def: "A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS8 inheritance is autosomal recessive." []
xref: MedGen:CN258244
xref: MeSH:D008831
xref: MeSH:D009404
xref: MeSH:D009422
xref: MIM:618349 "phenotype"
[Term]
id: DI-05501
name: Oocyte/zygote/embryo maturation arrest 6
def: "An autosomal recessive infertility disorder characterized by oocyte fertilization failure, due to defective sperm-binding to an abnormally thin zona pellucida in patient oocytes." []
synonym: "Oocyte maturation defect 6" [UniProt]
synonym: "OOMD6" [UniProt]
xref: MedGen:CN258242
xref: MeSH:D007247
xref: MIM:618353 "phenotype"
[Term]
id: DI-05502
name: Mullegama-Klein-Martinez syndrome
def: "An X-linked neurodevelopmental disorder with variable features including intellectual deficiency, microcephaly, microtia, hearing loss, developmental delay, dysmorphic features, language delay, congenital heart defect, and clinodactyly of the 5th finger." []
synonym: "NEDXCF" [UniProt]
synonym: "Neurodevelopmental disorder, X-linked, with craniofacial abnormalities" [UniProt]
xref: MedGen:CN258252
xref: MeSH:D000015
xref: MeSH:D065886
xref: MIM:301022 "phenotype"
[Term]
id: DI-05503
name: Muscular dystrophy, congenital, megaconial type
def: "An autosomal recessive, congenital muscular dystrophy characterized by early-onset muscle wasting, intellectual disability, and dilated cardiomyopathy in half of affected individuals. Some patients may die from cardiomyopathy in the first or second decade of life. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center." []
synonym: "Muscular dystrophy, congenital, with mitochondrial structural abnormalities" [UniProt]
xref: MedGen:C1865233
xref: MeSH:D009136
xref: MIM:602541 "phenotype"
[Term]
id: DI-05504
name: Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
def: "An autosomal recessive disorder characterized by intellectual disability, developmental delay with poor or absent speech, short stature, progressive microcephaly, hyperactivity and aggressive behavior. Some patients manifest sensorineural hearing loss." []
xref: MedGen:CN258232
xref: MeSH:D000015
xref: MeSH:D065886
xref: MIM:618342 "phenotype"
[Term]
id: DI-05505
name: Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
def: "An autosomal recessive disorder with a highly variable phenotype and onset in early childhood. Disease features include cobblestone-like malformation of the cortex, polymicrogyria, intellectual and motor developmental delay, small joint hypermobility, vascular fragility, aneurysms, thin translucent skin and easy bruising, congenital heart defects, and foot deformities. Early death due to vascular dissection may occur." []
synonym: "Polymicrogyria with or without vascular-type EDS" [UniProt]
xref: MedGen:CN258233
xref: MeSH:D004535
xref: MeSH:D065706
xref: MIM:618343 "phenotype"
[Term]
id: DI-05506
name: Microcephaly, growth deficiency, seizures, and brain malformations
def: "An autosomal recessive disorder characterized by intrauterine growth retardation, postnatal growth deficiency, microcephaly, facial dysmorphism, early-onset seizures, brain malformations such as partial agenesis of the corpus callosum and simplified gyration, and poor or absent psychomotor development." []
xref: MedGen:CN258240
xref: MeSH:D004392
xref: MeSH:D054220
xref: MIM:618346 "phenotype"
[Term]
id: DI-05507
name: Houge-Janssens syndrome 3
def: "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay with onset in infancy and additional variable features including hypotonia, epilepsy, brain abnormalities such as ventriculomegaly and a small corpus callosum, and autism spectrum disorder." []
synonym: "NEDLBA" [UniProt]
synonym: "Neurodevelopmental disorder and language delay with or without structural brain abnormalities" [UniProt]
xref: MedGen:CN258245
xref: MeSH:D000015
xref: MeSH:D065886
xref: MIM:618354 "phenotype"
[Term]
id: DI-05508
name: Neurodevelopmental disorder with central and peripheral motor dysfunction
def: "An autosomal recessive neurodevelopmental disorder with early onset and a highly variable phenotype. Disease features include hypotonia apparent from birth, poor feeding, global developmental delay with absence of reaction to touch and no eye contact, infantile-onset progressive ataxia and demyelinating peripheral neuropathy." []
xref: MedGen:CN258246
xref: MeSH:D000015
xref: MeSH:D065886
xref: MIM:618356 "phenotype"
[Term]
id: DI-05509
name: Epilepsy, idiopathic generalized 15
def: "An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. EIG15 is characterized by onset of variable types of seizures in the first decade of life." []
xref: MedGen:CN258247
xref: MeSH:D004829
xref: MIM:618357 "phenotype"
[Term]
id: DI-05510
name: Cone-rod dystrophy and hearing loss 2
def: "An autosomal recessive disease defined by the association of progressive cone-rod dystrophy with sensorineural hearing loss. Cone- rod dystrophy is characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors." []
xref: MedGen:CN258248
xref: MeSH:D054062
xref: MIM:618358 "phenotype"
[Term]
id: DI-05511
name: Brain small vessel disease 3
def: "An autosomal recessive form of brain small vessel disease, a cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD3 patients may have disease onset in utero or early infancy with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration." []
xref: MedGen:CN258256
xref: MeSH:D001927
xref: MIM:618360 "phenotype"
[Term]
id: DI-05512
name: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
def: "An autosomal recessive disorder characterized by disproportionate short stature, defective tooth enamel formation, and skeletal dysplasia with severe scoliosis in some patients. Variable features include facial dysmorphism, hearing impairment, and mildly impaired intellectual development." []
xref: MedGen:CN258254
xref: MeSH:D000567
xref: MeSH:D001848
xref: MIM:618363 "phenotype"
[Term]
id: DI-05513
name: Myoclonus, familial, 2
def: "An autosomal dominant neurologic disorder characterized by upper limb isolated myoclonus without seizures or cognitive impairment. MYOCL2 is a non-progressive disease with onset in the first decade of life." []
xref: MedGen:CN258255
xref: MeSH:D009207
xref: MIM:618364 "phenotype"
[Term]
id: DI-05514
name: Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
def: "An autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy, and characterized by microcephaly, short stature, severe global developmental delay, progressive spasticity, and epilepsy. Brain imaging shows delayed myelination, hypomyelination, enlarged ventricles, and cerebellar atrophy." []
xref: MedGen:CN258265
xref: MeSH:D065886
xref: MIM:618367 "phenotype"
[Term]
id: DI-05515
name: Spinocerebellar ataxia, autosomal recessive, 27
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR27 is a progressive disease characterized by gait difficulties, eye movement abnormalities, dysarthria, and difficulty writing. Some patients may lose independent ambulation. Additional features include spasticity of the lower limbs and cognitive impairment." []
xref: MedGen:CN258266
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:618369 "phenotype"
[Term]
id: DI-05516
name: Turnpenny-Fry syndrome
def: "A syndrome characterized by facial dysmorphism, intellectual disability, feeding problems, impaired growth, and a range of brain, cardiovascular, and skeletal abnormalities. Craniofacial features include frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic ears." []
synonym: "Neurocardioskeletal syndrome" [UniProt]
xref: MedGen:CN258267
xref: MeSH:D000015
xref: MIM:618371 "phenotype"
[Term]
id: DI-05517
name: Gastrointestinal ulceration, recurrent, with dysfunctional platelets
def: "An autosomal recessive disorder characterized by recurrent gastrointestinal mucosal ulcers, gastrointestinal bleeding, chronic anemia, iron deficiency, and abdominal pain. Disease features also include platelet dysfunction, and globally decreased eicosanoid synthesis." []
synonym: "Deficiency of phospholipase A2, group IVA" [UniProt]
xref: MedGen:C3888207
xref: MeSH:D008661
xref: MeSH:D014456
xref: MIM:618372 "phenotype"
[Term]
id: DI-05518
name: Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma
def: "An autosomal recessive genodermatosis characterized by hypo- and hyperpigmented macular skin lesions, progressive alopecia, palmoplantar keratoderma, dystrophic nails, teeth abnormalities and a predisposition to squamous cell carcinoma." []
xref: MedGen:CN258269
xref: MeSH:D007039
xref: MeSH:D007645
xref: MeSH:D010859
xref: MIM:618373 "phenotype"
[Term]
id: DI-05519
name: Dyschromatosis universalis hereditaria 1
def: "A form of dyschromatosis universalis, an autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body, that appear in infancy or early childhood. The trunk and extremities are the dominant sites of abnormal pigmentation. Facial lesions can be seen in 50% of affected individuals, but involvement of palms and soles is unusual. Abnormalities of hair and nails have also been reported. Dyschromatosis universalis hereditaria may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications." []
xref: MedGen:C2675711
xref: MeSH:D010859
xref: MIM:127500 "phenotype"
[Term]
id: DI-05520
name: Huriez syndrome
def: "An autosomal dominant syndrome characterized by atrophic fibrosis of the skin of the limbs, nail hypoplasia, and palmoplantar keratoderma. Malignant degeneration of affected skin resulting in aggressive squamous cell carcinoma and early metastasis formation is a distinctive feature of the syndrome." []
synonym: "Keratoderma with scleroatrophy of the extremities" [UniProt]
synonym: "Scleroatrophic and keratotic dermatosis of limbs" [UniProt]
synonym: "Sclerotylosis" [UniProt]
xref: MedGen:C0406767
xref: MeSH:D007642
xref: MeSH:D012594
xref: MeSH:D012878
xref: MIM:181600 "phenotype"
[Term]
id: DI-05521
name: Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
def: "An autosomal recessive neuromuscular disorder characterized by childhood onset of recurrent episodes of proximal weakness and myalgia often precipitated by exercise, infections or low temperature. Additional features are optic atrophy, axonal polyneuropathy, and reversible or partially reversible leukoencephalopathy." []
synonym: "MMDS8" [UniProt]
synonym: "Multiple mitochondrial dysfunctions syndrome 8" [UniProt]
xref: MedGen:C0162670
xref: MeSH:D017240
xref: MIM:251900 "phenotype"
[Term]
id: DI-05522
name: Intellectual developmental disorder, X-linked 108
def: "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations." []
xref: MedGen:CN258272
xref: MeSH:D038901
xref: MIM:301024 "phenotype"
[Term]
id: DI-05523
name: Intellectual developmental disorder, autosomal recessive 69
def: "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:CN258276
xref: MeSH:D008607
xref: MIM:618383 "phenotype"
[Term]
id: DI-05524
name: Intellectual developmental disorder, autosomal recessive 70
def: "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT70 patients manifest impaired intellectual development, mild facial dysmorphism, febrile seizures, and behavioral abnormalities." []
xref: MedGen:CN258336
xref: MeSH:D008607
xref: MIM:618402 "phenotype"
[Term]
id: DI-05525
name: Deafness, Y-linked 2
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNY2 patients show bilateral symmetric hearing loss ranging from mild to severe, with onset in the third to fifth decades of life." []
xref: MedGen:CN258289
xref: MeSH:D006319
xref: MIM:400047 "phenotype"
[Term]
id: DI-05526
name: Developmental and epileptic encephalopathy 72
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE72 is an autosomal dominant form with variable severity and onset in infancy." []
synonym: "EIEE72" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 72" [UniProt]
xref: MedGen:CN258271
xref: MeSH:D013036
xref: MIM:618374 "phenotype"
[Term]
id: DI-05527
name: Developmental and epileptic encephalopathy 73
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE73 is an autosomal dominant form with onset at birth." []
synonym: "EIEE73" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 73" [UniProt]
xref: MedGen:CN258273
xref: MeSH:D013036
xref: MIM:618379 "phenotype"
[Term]
id: DI-05528
name: Developmental and epileptic encephalopathy 74
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE74 is an autosomal dominant form with onset in the first year of life." []
synonym: "EIEE74" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 74" [UniProt]
xref: MedGen:CN258293
xref: MeSH:D013036
xref: MIM:618396 "phenotype"
[Term]
id: DI-05529
name: Combined oxidative phosphorylation deficiency 38
def: "An autosomal recessive disorder due to mitochondrial dysfunction and characterized by perinatal hypertrophic cardiomyopathy, growth retardation, muscle hypotonia, elevated lactate, dysmorphy and intellectual disability." []
xref: MedGen:CN258275
xref: MeSH:D028361
xref: MIM:618378 "phenotype"
[Term]
id: DI-05530
name: Combined oxidative phosphorylation deficiency 39
def: "An autosomal recessive disorder due to mitochondrial dysfunction and characterized by global developmental delay, axial hypotonia, dystonia, dysarthria, impaired intellectual development with poor speech, and deficiencies of the mitochondrial respiratory chain enzyme complexes. Neuroimaging shows abnormalities in the putamen and caudate nuclei, along with subcortical white matter involvement." []
xref: MedGen:CN258295
xref: MeSH:D028361
xref: MIM:618397 "phenotype"
[Term]
id: DI-05531
name: Facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome
def: "An autosomal dominant syndrome characterized by delayed motor and intellectual development, poor speech, seizures, generalized hypertrichosis and facial dysmorphic features, including hypotonic facies, bitemporal narrowing, micrognathia, deep-set eyes, bushy eyebrows and long eyelashes, low-set ears, short deep philtrum, gingival overgrowth, prominent upper and lower vermilion, and everted upper lip." []
xref: MedGen:CN258280
xref: MeSH:D000015
xref: MIM:618381 "phenotype"
[Term]
id: DI-05532
name: Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
def: "An autosomal recessive disorder characterized by acute, reversible neurological deterioration during febrile illness. Patients exhibit reversible leukoencephalopathy and increased urinary excretion of alpha-ketoglutarate." []
xref: MedGen:CN258281
xref: MeSH:D056784
xref: MIM:618384 "phenotype"
[Term]
id: DI-05533
name: Amelogenesis imperfecta 3C
def: "An autosomal recessive form of amelogenesis imperfecta, a defect of enamel formation. AI3C is characterized by generalized enamel hypocalcification affecting primary and secondary dentition. The surface of the enamel is rough and often stained. After eruption, the occlusal enamel on the molars disappears due to attrition, leaving a ring of intact enamel remaining on the sides." []
synonym: "Amelogenesis imperfecta, hypocalcification type, autosomal recessive" [UniProt]
synonym: "Amelogenesis imperfecta, type IIIC" [UniProt]
xref: MedGen:CN258278
xref: MeSH:D000567
xref: MIM:618386 "phenotype"
[Term]
id: DI-05534
name: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN3 is an autosomal recessive disorder characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy and distal sensory impairment due to an axonal peripheral neuropathy. Affected individuals have gait disturbances and sometimes manual dexterity difficulties, as well as cerebellar ataxia associated with cerebellar atrophy on brain imaging." []
xref: MedGen:CN258287
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:618387 "phenotype"
[Term]
id: DI-05535
name: Fetal akinesia deformation sequence 2
def: "A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS2 inheritance is autosomal recessive." []
xref: MedGen:CN258279
xref: MeSH:D001176
xref: MeSH:D005317
xref: MIM:618388 "phenotype"
[Term]
id: DI-05536
name: Fetal akinesia deformation sequence 3
def: "A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS3 inheritance is autosomal recessive." []
xref: MedGen:CN258277
xref: MeSH:D001176
xref: MeSH:D005317
xref: MIM:618389 "phenotype"
[Term]
id: DI-05537
name: Fetal akinesia deformation sequence 4
def: "A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS4 inheritance is autosomal recessive." []
xref: MedGen:CN258290
xref: MeSH:D001176
xref: MeSH:D005317
xref: MIM:618393 "phenotype"
[Term]
id: DI-05538
name: Witteveen-Kolk syndrome
def: "An autosomal dominant syndrome characterized by global developmental delay, mild to severe intellectual disability, and facial dysmorphism. Additional features include short stature, microcephaly, joint hypermotility, and small hands and feet with digital abnormalities. Brain imaging shows dilated ventricles, thin corpus callosum and, in some cases, dysgyria or polymicrogyria." []
xref: MedGen:C4310804
xref: MeSH:D000015
xref: MIM:613406 "phenotype"
[Term]
id: DI-05539
name: Immunodeficiency 60 and autoimmunity
def: "An autosomal dominant primary immunologic disorder characterized by intestinal inflammation, recurrent sino-pulmonary infections, impaired lymphocyte maturation, and variably decreased immunoglobulin production." []
synonym: "BRIDA" [UniProt]
synonym: "Immunodeficiency 60" [UniProt]
synonym: "Immunodeficiency and autoimmunity, BACH2-related" [UniProt]
xref: MedGen:CN258291
xref: MeSH:D007153
xref: MIM:618394 "phenotype"
[Term]
id: DI-05540
name: Spondyloepiphyseal dysplasia, Kondo-Fu type
def: "A disorder characterized by severely retarded growth, spondyloepiphyseal dysplasia, reduced bone mineral density, and markedly elevated plasma levels of various lysosomal enzymes. Additional features include pectus carinatum, kyphosis, a waddling gait, brachydactyly and dysmorphic facial features. SEDKF transmission pattern is consistent with autosomal recessive inheritance." []
synonym: "SED with elevated blood lysosomal enzymes" [UniProt]
xref: MedGen:CN258288
xref: MeSH:D010009
xref: MIM:618392 "phenotype"
[Term]
id: DI-05541
name: Spondyloepimetaphyseal dysplasia with joint laxity, 3
def: "An autosomal recessive bone disease characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal and tarsal bones." []
xref: MedGen:CN258292
xref: MeSH:D010009
xref: MIM:618395 "phenotype"
[Term]
id: DI-05542
name: T-cell lymphoma, subcutaneous panniculitis-like
def: "An uncommon form of T-cell non-Hodgkin lymphoma, in which cytotoxic CD8+ T-cells infiltrate subcutaneous adipose tissue, and rimming adipocytes in a lace-like pattern. Affected individuals typically present with multiple subcutaneous nodules, systemic B-cell symptoms, and, in a subset of cases, autoimmune disorders, most commonly systemic lupus erythematosus. A subset of patients develop hemophagocytic lymphohistiocytosis. SPTCL transmission pattern is consistent with autosomal recessive inheritance with incomplete penetrance." []
xref: MedGen:C0522624
xref: MeSH:D015434
xref: MeSH:D016399
xref: MIM:618398 "phenotype"
[Term]
id: DI-05543
name: Charcot-Marie-Tooth disease, axonal, 2EE
def: "A recessive axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2EE is a slowly progressive, sensorimotor peripheral axonal neuropathy with onset in the first or second decades of life. The disorder primarily affects the lower limbs, sometimes resulting in loss of ambulation, with later onset of upper limb involvement." []
synonym: "Charcot-Marie-Tooth disease, axonal, type 2EE" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy, type 2EE" [UniProt]
xref: MedGen:CN258309
xref: MeSH:D002607
xref: MIM:618400 "phenotype"
[Term]
id: DI-05544
name: Cryptophthalmos, unilateral or bilateral, isolated
def: "An autosomal dominant, rare condition characterized by congenital eyelid malformation with an underlying malformed eye. It can be bilateral or unilateral and is classified into complete (typical), incomplete (atypical) and abortive (congenital symblepharon) forms. The skin of patients with complete cryptophthalmos extends uninterrupted from the forehead to the cheek, whereas incomplete cryptophthalmos exists when there is medial eyelid fusion, but coincident intact lateral structures. The symblepharon variety presents with fusion of the upper eyelid skin to the superior aspect of the globe. The complete variety is the most common form." []
synonym: "Ankyloblepharon, simple" [UniProt]
synonym: "cryptophthalmos with microphthalmia and Peters anomaly" [UniProt]
xref: MedGen:C1852453
xref: MeSH:D005124
xref: MeSH:D005141
xref: MIM:123570 "phenotype"
[Term]
id: DI-05545
name: D-lactic aciduria with gout
def: "An autosomal recessive metabolic disorder characterized by D-lactic aciduria in the presence of normal plasma lactic acid." []
xref: MedGen:C1855552
xref: MeSH:D008661
xref: MIM:245450 "phenotype"
[Term]
id: DI-05546
name: Immunodeficiency 61
def: "An X-linked recessive primary immunologic disorder characterized by recurrent infections due to impaired antibody production. Affected individuals have normal numbers of circulating B and T cells, but B cells have an intrinsic defect in antibody production. Disease severity is variable and onset is in early childhood." []
synonym: "Agammaglobulinemia, X-linked, type 2" [UniProt]
synonym: "AGMX2" [UniProt]
synonym: "XLA2" [UniProt]
xref: MedGen:C1845903
xref: MeSH:D007153
xref: MIM:300310 "phenotype"
[Term]
id: DI-05547
name: Intellectual developmental disorder with short stature, facial anomalies, and speech defects
def: "An autosomal recessive disorder characterized by global developmental delay, mildly to severely impaired intellectual development, delayed or slurred speech, and short stature. Dysmorphic features included a large bulbous nose and variable microretrognathia. Some patients show joint hyperlaxity and dislocations." []
xref: MedGen:C1853507
xref: MeSH:D000015
xref: MIM:606220 "phenotype"
[Term]
id: DI-05548
name: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
def: "An autosomal recessive neurologic disease characterized by imbalance, cerebellar ataxia, impaired vestibular function, and non-length- dependent sensory deficit." []
xref: MedGen:C3281223
xref: MeSH:D009461
xref: MIM:614575 "phenotype"
[Term]
id: DI-05549
name: Leukodystrophy, hypomyelinating, 18
def: "An autosomal recessive disorder characterized by hypomyelinating leukodystrophy with progressive atrophy of the corpus callosum, thalami and cerebellum, and peripheral neuropathy. Clinical features include very poor psychomotor development, dystonia, severe spasticity, seizures, and failure to thrive." []
xref: MedGen:CN258344
xref: MeSH:D020279
xref: MIM:618404 "phenotype"
[Term]
id: DI-05550
name: Deafness, autosomal recessive, 113
def: "A form of non-syndromic, sensorineural deafness characterized by postlingual progressive hearing impairment. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN258343
xref: MeSH:D006319
xref: MIM:618410 "phenotype"
[Term]
id: DI-05551
name: Deafness, autosomal recessive, 100
def: "A form of non-syndromic, sensorineural deafness characterized by prelingual hearing impairment. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN258377
xref: MeSH:D006319
xref: MIM:618422 "phenotype"
[Term]
id: DI-05552
name: Deafness, autosomal recessive, 94
def: "A form of non-syndromic, sensorineural deafness characterized by prelingual, profound, bilateral hearing impairment. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN258813
xref: MeSH:D006319
xref: MIM:618434 "phenotype"
[Term]
id: DI-05553
name: Cataract 48
def: "A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT48 is an autosomal recessive form characterized by infantile or early-childhood onset." []
xref: MedGen:CN258369
xref: MeSH:D002386
xref: MIM:618415 "phenotype"
[Term]
id: DI-05554
name: Spastic paraplegia 80, autosomal dominant
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body." []
xref: MedGen:CN258384
xref: MeSH:D015419
xref: MIM:618418 "phenotype"
[Term]
id: DI-05555
name: Spermatogenic failure 36
def: "An autosomal dominant infertility disorder due to teratozoospermia, with spermatozoa showing anomalies of the head, acrosome, and nucleus." []
xref: MedGen:CN258375
xref: MeSH:D007248
xref: MIM:618420 "phenotype"
[Term]
id: DI-05556
name: Spermatogenic failure 37
def: "An autosomal recessive infertility disorder characterized by asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic abnormalities, primarily consisting of short or absent flagella, and neck defects at the head-tail junction." []
xref: MedGen:CN258386
xref: MeSH:D007248
xref: MIM:618429 "phenotype"
[Term]
id: DI-05557
name: Spermatogenic failure 38
def: "An autosomal recessive infertility disorder characterized by asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic abnormalities including short, absent, coiled, bent, or irregular- caliber flagella." []
xref: MedGen:CN258390
xref: MeSH:D007248
xref: MIM:618433 "phenotype"
[Term]
id: DI-05558
name: Myoectodermal gonadal dysgenesis syndrome
def: "An autosomal recessive disorder characterized by 46,XY complete gonadal dysgenesis and extragonadal anomalies, including typical facial gestalt, low birth weight, myopathy, rod and cone dystrophy, anal atresia, omphalocele, sensorineural hearing loss, dry and scaly skin, skeletal abnormalities, renal agenesis and neuromotor delay." []
synonym: "Brosnan-Kennerknecht-Guran-Koc syndrome BKGK" [UniProt]
synonym: "GDRM" [UniProt]
synonym: "Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy" [UniProt]
xref: MedGen:CN258374
xref: MeSH:D009135
xref: MeSH:D058490
xref: MeSH:D058499
xref: MIM:618419 "phenotype"
[Term]
id: DI-05559
name: Arthrogryposis, distal, 2B4
def: "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures." []
synonym: "Arthrogryposis, distal, type 2B4" [UniProt]
xref: MedGen:C5193002
xref: MeSH:D001176
xref: MIM:108120 "phenotype"
[Term]
id: DI-05560
name: Koolen-De Vries syndrome
def: "An autosomal dominant, multisystem disorder characterized by hypotonia, developmental delay, moderate to severe intellectual disability, and distinctive dysmorphic features including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. Expressive language development is particularly impaired compared with receptive language or motor skills. Additional features include social and friendly behavior, epilepsy, musculoskeletal anomalies, congenital heart defects, urogenital malformations, and ectodermal anomalies." []
synonym: "Chromosome 17q21.31 deletion syndrome" [UniProt]
synonym: "Microdeletion 17q21.31 syndrome" [UniProt]
xref: MedGen:C1864871
xref: MeSH:D000015
xref: MIM:610443 "phenotype"
[Term]
id: DI-05561
name: Global developmental delay, progressive ataxia, and elevated glutamine
def: "An autosomal recessive disease characterized by early-onset delay in motor skills, delayed speech, progressive ataxia, and neurologic deterioration. Plasma glutamine is persistently elevated by a factor of 2.5 despite normal plasma ammonia levels." []
synonym: "Glutaminase deficiency with impaired intellectual development and progressive ataxia" [UniProt]
xref: MedGen:CN258346
xref: MeSH:D065886
xref: MIM:618412 "phenotype"
[Term]
id: DI-05562
name: Congenital myopathy 14
def: "An autosomal recessive congenital myopathy characterized by decreased fetal movements, severe muscle weakness and respiratory failure. Additional features include delayed motor development, areflexia, facial weakness, normal eye movements, head lag, and mild contractures. Skeletal muscle biopsy shows variation in fiber size with atrophy of the fast-twitch type II fibers." []
synonym: "MYOFTA" [UniProt]
synonym: "Myopathy, congenital, with fast-twitch (type II) fiber atrophy" [UniProt]
synonym: "Myopathy, congenital, with fast-twitch type II fiber atrophy" [UniProt]
xref: MedGen:CN258373
xref: MeSH:D020914
xref: MIM:618414 "phenotype"
[Term]
id: DI-05563
name: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
def: "An autosomal recessive disease characterized by muscle weakness, developmental delay, lactic acidosis, and encephalopathy. The severity of the clinical manifestations is highly variable even within affected individuals of the same family, ranging from asymptomatic lactic acidosis to severe developmental regression, epilepsy, intellectual disability, metabolic crisis, and multiorgan involvement." []
xref: MedGen:CN258383
xref: MeSH:D017237
xref: MIM:618416 "phenotype"
[Term]
id: DI-05564
name: Neurodevelopmental disorder with impaired speech and hyperkinetic movements
def: "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, delayed walking, poor or absent speech, and a hyperkinetic movement disorder with dystonia, tremor, ataxia, or chorea. Some patients develop seizures." []
xref: MedGen:CN258385
xref: MeSH:D065886
xref: MIM:618425 "phenotype"
[Term]
id: DI-05566
name: Developmental delay with variable intellectual impairment and behavioral abnormalities
def: "An autosomal dominant disorder characterized by impaired intellectual development with speech difficulties, dysmorphic features, and behavioral abnormalities including autism spectrum disorder, attention deficit and hyperactivity. Additional variable features may include hypotonia, somatic overgrowth, macrocephaly, mild distal skeletal anomalies, sleep disturbances, movement disorders, and gastrointestinal issues, such as constipation." []
xref: MedGen:CN258437
xref: MeSH:D065886
xref: MIM:618430 "phenotype"
[Term]
id: DI-05567
name: Hydatidiform mole, recurrent, 3
def: "A disorder characterized by excessive trophoblast development that produces a growing mass of tissue inside the uterus at the beginning of a pregnancy. It leads to abnormal pregnancies with no embryo, and cystic degeneration of the chorionic villi." []
xref: MedGen:CN258388
xref: MeSH:D006828
xref: MIM:618431 "phenotype"
[Term]
id: DI-05568
name: Hydatidiform mole, recurrent, 4
def: "A disorder characterized by excessive trophoblast development that produces a growing mass of tissue inside the uterus at the beginning of a pregnancy. It leads to abnormal pregnancies with no embryo, and cystic degeneration of the chorionic villi." []
xref: MedGen:CN258389
xref: MeSH:D006828
xref: MIM:618432 "phenotype"
[Term]
id: DI-05569
name: Arthrogryposis, distal, 2B2
def: "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B2 inheritance is autosomal dominant." []
synonym: "Arthrogryposis, distal, type 2B2" [UniProt]
xref: MedGen:CN258392
xref: MeSH:D001176
xref: MIM:618435 "phenotype"
[Term]
id: DI-05570
name: Arthrogryposis, distal, 2B3
def: "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B3 inheritance is autosomal dominant." []
xref: MedGen:CN258393
xref: MeSH:D001176
xref: MIM:618436 "phenotype"
[Term]
id: DI-05571
name: Developmental and epileptic encephalopathy 75
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE75 is an autosomal recessive form characterized by onset of severe refractory seizures in the first months of life." []
synonym: "EIEE75" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 75" [UniProt]
xref: MedGen:CN258814
xref: MeSH:D013036
xref: MIM:618437 "phenotype"
[Term]
id: DI-05572
name: Spastic ataxia 9, autosomal recessive
def: "An autosomal recessive disorder characterized by onset of spastic ataxia in the first years of life. Clinical features include motor neuropathy, cerebellar atrophy, spastic paraparesis, intellectual disability, slow ocular saccades, axial hypotonia, distal muscle weakness and atrophy, and pyramidal symptoms, including hyperreflexia and extensor plantar responses." []
xref: MedGen:CN258762
xref: MeSH:D002524
xref: MeSH:D015419
xref: MIM:618438 "phenotype"
[Term]
id: DI-05573
name: Oculoskeletodental syndrome
def: "An autosomal recessive syndrome characterized by congenital cataracts, short stature, dysmorphic features with coarse facies, dental anomalies, multiple skeletal abnormalities, and neurological manifestations. Other recurrent features include hearing loss, secondary glaucoma, and nephrocalcinosis." []
synonym: "Cataracts, early-onset, with skeletal and dental anomalies" [UniProt]
xref: MedGen:CN258760
xref: MeSH:D000015
xref: MIM:618440 "phenotype"
[Term]
id: DI-05574
name: Neurodevelopmental disorder with or without variable brain abnormalities
def: "A disorder characterized by global developmental delay, impaired intellectual development, delayed walking, poor or absent speech, and variable brain anomalies including perisylvian polymicrogyria, cerebral or cerebellar atrophy, and hypoplasia of the corpus callosum." []
xref: MedGen:CN258765
xref: MeSH:D065886
xref: MIM:618443 "phenotype"
[Term]
id: DI-05575
name: Ciliary dyskinesia, primary, 41
def: "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD41 inheritance is autosomal recessive." []
xref: MedGen:CN258815
xref: MeSH:D002925
xref: MIM:618449 "phenotype"
[Term]
id: DI-05576
name: Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
def: "An autosomal recessive disorder characterized by severe neurological and extra-neurological manifestations. Clinical features include early-onset global developmental delay, absent speech, dystonia, spasticity, choreoathetoid movement disorder, seizures, and microcytic hypochromic anaemia unresponsive to iron supplementation." []
xref: MedGen:CN258816
xref: MeSH:D000747
xref: MeSH:D009069
xref: MeSH:D020271
xref: MIM:618451 "phenotype"
[Term]
id: DI-05577
name: Intellectual developmental disorder with short stature and variable skeletal anomalies
def: "An autosomal recessive disorder characterized by severe intellectual disability, speech and language impairment, developmental delay, and cardiac, thyroid and skeletal abnormalities. Skeletal features include short stature, camptodactyly, fifth finger clinodactyly, thumb hypoplasia, overlapping toes, and kyphosis or lumbar vertebral abnormalities." []
xref: MedGen:CN258817
xref: MeSH:D001848
xref: MeSH:D008607
xref: MIM:618453 "phenotype"
[Term]
id: DI-05578
name: Polydactyly, preaxial 1
def: "A form of polydactyly, a condition defined by the occurrence of supernumerary digits in the upper and/or lower extremities. Preaxial or radial polydactyly refers to the presence of extra digits on the radial side of the hand. PPD1 is an autosomal recessive form characterized by duplication of the distal phalanx of the thumb." []
synonym: "Polydactyly, preaxial I" [UniProt]
xref: MedGen:C1868116
xref: MeSH:D017689
xref: MIM:174400 "phenotype"
[Term]
id: DI-05579
name: Paganini-Miozzo syndrome
def: "An X-linked, syndromic, neurodevelopmental disorder characterized by intellectual disability, global developmental delay, severe myopia, and mild facial dysmorphism." []
synonym: "HS6ST2-CDG" [UniProt]
xref: MedGen:CN258821
xref: MeSH:D038901
xref: MIM:301025 "phenotype"
[Term]
id: DI-05580
name: Keipert syndrome
def: "An X-linked recessive syndrome characterized by craniofacial and digital abnormalities. Clinical features include a prominent forehead, a flat midface, hypertelorism, a broad nose, downturned corners of mouth, and widening of all distal phalanges. Additional variable features are cognitive impairment and sensorineural deafness." []
synonym: "Nasodigitoacoustic syndrome" [UniProt]
xref: MedGen:C1850627
xref: MeSH:D000015
xref: MIM:301026 "phenotype"
[Term]
id: DI-05581
name: Encephalopathy, acute, infection-induced, 9
def: "An autosomal recessive disorder characterized by infancy-onset of episodic neurodevelopmental regression in association with infection- induced febrile illness. Clinical features include poor overall growth, seizures, myoclonic jerks, microcephaly, ataxia, and cerebellar atrophy." []
xref: MedGen:CN260095
xref: MeSH:D004684
xref: MIM:618426 "phenotype"
[Term]
id: DI-05582
name: Long QT syndrome 8
def: "A form of long QT syndrome, a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. LQT8 transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance." []
xref: MedGen:CN260585
xref: MeSH:D008133
xref: MIM:618447 "phenotype"
[Term]
id: DI-05583
name: Deafness, autosomal recessive, 114
def: "A form of non-syndromic deafness characterized by congenital profound sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN258818
xref: MeSH:D006319
xref: MIM:618456 "phenotype"
[Term]
id: DI-05584
name: Deafness, autosomal recessive, 115
def: "A form of non-syndromic deafness characterized by severe sensorineural hearing impairment in early childhood. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN258819
xref: MeSH:D006319
xref: MIM:618457 "phenotype"
[Term]
id: DI-05585
name: Deafness, autosomal recessive, 99
def: "A form of non-syndromic deafness characterized by prelingual, bilateral, severe-to-profound sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN260175
xref: MeSH:D006319
xref: MIM:618481 "phenotype"
[Term]
id: DI-05586
name: Developmental delay with or without dysmorphic facies and autism
def: "An autosomal dominant neurodevelopmental disorder apparent from infancy or early childhood. Some patients present with intellectual disability and renal, cardiac, genitourinary systems, as well as structural brain abnormalities. In some cases, the phenotype is less severe, has no systemic involvement and is characterized by autism spectrum disorder and/or intellectual disability, sometimes associated with epilepsy. Affected individuals manifest variable dysmorphic features." []
xref: MedGen:CN259075
xref: MeSH:D065886
xref: MIM:618454 "phenotype"
[Term]
id: DI-05587
name: Immunodeficiency 62
def: "An autosomal recessive, primary immunologic disorder characterized by recurrent severe respiratory tract infections and bronchiectasis, due to antibody deficiency. Affected individuals have an abnormal B cell immunophenotype, with low levels of circulating memory B cells." []
xref: MedGen:CN258820
xref: MeSH:D007153
xref: MIM:618459 "phenotype"
[Term]
id: DI-05588
name: Khan-Khan-Katsanis syndrome
def: "An autosomal recessive neurodevelopmental disorder characterized by multiple congenital anomalies affecting the ocular, renal, skeletal, and sometimes cardiac systems, defects in urogenital and limb morphogenesis, poor overall growth, microcephaly, and global developmental delay." []
synonym: "3K syndrome" [UniProt]
xref: MedGen:CN258822
xref: MeSH:D000015
xref: MIM:618460 "phenotype"
[Term]
id: DI-05589
name: Bleeding disorder, platelet-type, 22
def: "An autosomal recessive disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after minor injuries, and menorrhagia." []
xref: MedGen:CN259043
xref: MeSH:D001791
xref: MeSH:D006470
xref: MIM:618462 "phenotype"
[Term]
id: DI-05590
name: Pheochromocytoma/paraganglioma syndrome 6
def: "A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL6 inheritance is autosomal dominant." []
synonym: "Paragangliomas 6" [UniProt]
synonym: "PGL6" [UniProt]
xref: MedGen:CN260169
xref: MeSH:D010235
xref: MIM:618464 "phenotype"
[Term]
id: DI-05591
name: Pheochromocytoma/paraganglioma syndrome 7
def: "A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL7 tumors are generally benign, tend to be abdominal, and often secrete normetanephrine. PPGL7 inheritance is autosomal dominant." []
synonym: "Paragangliomas 7" [UniProt]
synonym: "PGL7" [UniProt]
xref: MedGen:CN260173
xref: MeSH:D010235
xref: MIM:618475 "phenotype"
[Term]
id: DI-05592
name: Developmental and epileptic encephalopathy 76
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE76 is an autosomal recessive form that may result in death in childhood." []
synonym: "EIEE76" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 76" [UniProt]
xref: MedGen:CN260164
xref: MeSH:D013036
xref: MIM:618468 "phenotype"
[Term]
id: DI-05593
name: Intellectual developmental disorder with severe speech and ambulation defects
def: "An autosomal dominant neurodevelopmental disorder with onset in infancy, and characterized by global developmental delay, intellectual disability, ambulation deficits, severe language impairment, and minor dysmorphic features including a wide mouth, diastema, and bulbous nose. Additional manifestations are spasticity, hypotonia and autistic features including stereotypies. Brain imaging show thin corpus callosum, generalized atrophy, and mild periventricular gliosis." []
xref: MedGen:CN260165
xref: MeSH:D065886
xref: MIM:618470 "phenotype"
[Term]
id: DI-05594
name: Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B
def: "An autosomal recessive disease characterized by contractures affecting proximal and distal joints, vertebral fusions and scoliosis, carpal and tarsal fusions as well as webbing of the skin (pterygium) involving the neck, elbows, fingers, and/or knees. Other features include facial dysmorphism, short neck, and absent finger flexion creases. Inter- and intrafamilial variability has been observed." []
xref: MedGen:CN259076
xref: MeSH:D001176
xref: MIM:618469 "phenotype"
[Term]
id: DI-05595
name: Brain abnormalities, neurodegeneration, and dysosteosclerosis
def: "An autosomal recessive disease with variable manifestations. Main features are brain malformations with calcifying leukoencephalopathy, progressive neurodegeneration, and bone sclerotic features. The age at onset ranges from infancy to early adulthood. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum." []
xref: MedGen:CN260170
xref: MeSH:D010026
xref: MeSH:D019636
xref: MIM:618476 "phenotype"
[Term]
id: DI-05596
name: Uridine-cytidineuria
def: "An autosomal recessive inborn error of metabolism characterized by increased urinary uridine and cytidine excretion. It is a likely benign metabolic trait without clinical manifestations." []
xref: MedGen:CN260064
xref: MeSH:D011686
xref: MIM:618477 "phenotype"
[Term]
id: DI-05597
name: Cerebellar, ocular, craniofacial, and genital syndrome
def: "An autosomal recessive syndrome characterized by moderate to severe developmental delay, intellectual disability, cerebellar hypoplasia with ataxia, variable microcephaly, ophthalmological anomalies, facial dysmorphism, absent or underdeveloped nipples, underdeveloped labioscrotal folds and scrotal agenesis." []
xref: MedGen:CN260096
xref: MeSH:D000015
xref: MIM:618479 "phenotype"
[Term]
id: DI-05598
name: Neurodevelopmental disorder with seizures and speech and walking impairment
def: "An autosomal recessive disorder characterized by global developmental delay with intellectual disability and poor speech acquisition, and walking difficulties due to hypotonia, hypertonia, spasticity, or poor coordination. Additional features include seizures, mild dysmorphic features, and variable short stature." []
xref: MedGen:CN260174
xref: MeSH:D065886
xref: MIM:618480 "phenotype"
[Term]
id: DI-05599
name: Generalized epilepsy with febrile seizures plus 10
def: "An autosomal dominant neurologic disorder with incomplete penetrance, characterized by variable types of seizures including absence, tonic- clonic, febrile, focal, and eyelid myoclonia. Some patients have normal neurologic development. Others have mild-to-moderate intellectual disability or autism spectrum disorder." []
synonym: "GEFS+, type 10" [UniProt]
synonym: "GEFS+10" [UniProt]
synonym: "Generalized epilepsy with febrile seizures plus, type 10" [UniProt]
xref: MedGen:CN260572
xref: MeSH:D003294
xref: MeSH:D004829
xref: MIM:618482 "phenotype"
[Term]
id: DI-05600
name: Calvarial doughnut lesions with bone fragility
def: "A rare autosomal dominant bone disease characterized by low bone density, distinctive X-ray translucencies of the skull, multiple fractures, elevated serum alkaline phosphatase, and dental caries. Patients present with childhood onset of primary osteoporosis and typical sclerotic doughnut-shaped lesions in the cranial bones." []
synonym: "Doughnut lesions of skull, familial" [UniProt]
xref: MedGen:C1852022
xref: MeSH:D001847
xref: MIM:126550 "phenotype"
[Term]
id: DI-05601
name: Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia
def: "A severe form of calvarial doughnut lesions with bone fragility, a rare autosomal dominant disease characterized by low bone density, distinctive X-ray translucencies of the skull, multiple fractures, elevated serum alkaline phosphatase, and dental caries. CDLSMD patients show neonatal onset of fractures, severe short stature, marked cranial sclerosis, and spondylometaphyseal dysplasia." []
xref: MedGen:C1852022
xref: MeSH:D001847
xref: MIM:126550 "phenotype"
[Term]
id: DI-05602
name: Abnormal hair, joint laxity, and developmental delay
def: "An autosomal recessive disease characterized by abnormal hair, cognitive delay, speech articulation disorder, and increased joint mobility. At birth patients have normal hair that gradually becomes sparse, twisted, brittle, and easily broken, with pili torti and trichorrhexis nodosa." []
synonym: "Pili torti and developmental delay" [UniProt]
xref: MedGen:C1849811
xref: MeSH:D002658
xref: MeSH:D006201
xref: MIM:261990 "phenotype"
[Term]
id: DI-05603
name: Nephrotic syndrome 20
def: "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS20 is an X-linked, steroid-resistant form with onset at birth or in the first years of life in affected males. Death in childhood may occur in absence of renal transplantation. Carrier females may be unaffected or have a mild disease with proteinuria." []
xref: MedGen:CN260592
xref: MeSH:D009404
xref: MIM:301028 "phenotype"
[Term]
id: DI-05604
name: Shukla-Vernon syndrome
def: "An X-linked neurodevelopmental disorder manifesting in affected males with intellectual and learning disability, motor and language delay, autism spectrum disorder, attention deficit and hyperactivity disorder, and dysmorphic features. Some patients may have seizures and/or cerebellar atrophy on brain imaging. Carrier females may have mild disease manifestations." []
xref: MedGen:CN261159
xref: MeSH:D065886
xref: MIM:301029 "phenotype"
[Term]
id: DI-05605
name: Arthrogryposis multiplex congenita 3, myogenic type
def: "A form of arthrogryposis multiplex congenita, a heterogeneous group of disorders characterized by multiple joint contractures resulting, in some cases, from reduced or absent fetal movements. AMC3 is an autosomal recessive form characterized by decreased fetal movements, muscular hypotonia, delayed motor development, loss of ambulation, variable skeletal defects, and persistent contractures of interphalangeal joints." []
synonym: "AMCM" [UniProt]
synonym: "Arthrogryposis multiplex congenita, myogenic type" [UniProt]
xref: MedGen:CN260593
xref: MeSH:D001176
xref: MIM:618484 "phenotype"
[Term]
id: DI-05606
name: Neurodevelopmental disorder with microcephaly and structural brain anomalies
def: "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability, microcephaly, dysmorphic facial features, and cerebral malformations including simplification of cerebral gyration, agenesis of the corpus callosum, and brainstem and white matter hypoplasia." []
xref: MedGen:CN260577
xref: MeSH:D065886
xref: MIM:618492 "phenotype"
[Term]
id: DI-05607
name: Neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements
def: "An autosomal recessive, complex and progressive neurologic disorder characterized by severe neurodevelopmental delay and developmental regression, epileptic encephalopathy, postnatal microcephaly, hypotonia, and non-epileptic hyperkinetic movement disorder, including myoclonus dystonia, choreoathetosis, or generalized dyskinesia. Disease onset in infancy or first years of life." []
synonym: "Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements" [UniProt]
xref: MedGen:CN260601
xref: MeSH:D065886
xref: MIM:618497 "phenotype"
[Term]
id: DI-05608
name: Stolerman neurodevelopmental syndrome
def: "An autosomal dominant disorder characterized by global developmental delay, variable intellectual disability, poor language acquisition, and dysmorphic facial features including a prominent nasal bridge and coarse features. Some patients manifest autism spectrum disorder. Musculoskeletal features may be present and include widened and thickened hands and fingers, joint hypermobility, clinodactyly of the fifth fingers, and toe syndactyly." []
synonym: "NEDCFSA" [UniProt]
synonym: "Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities" [UniProt]
xref: MedGen:CN260725
xref: MeSH:D065886
xref: MIM:618505 "phenotype"
[Term]
id: DI-05609
name: Hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
def: "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, poor or absent speech, hypotonia, variable ocular movement and visual abnormalities, and respiratory difficulties. Disease onset is in infancy and death due to respiratory insufficiency may occur." []
xref: MedGen:CN260596
xref: MeSH:D065886
xref: MIM:618493 "phenotype"
[Term]
id: DI-05610
name: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
def: "An autosomal dominant neurodevelopmental syndrome characterized by severe global developmental delay, impaired intellectual development, poor or absent language, significant motor disability with inability to walk, dysmorphic facial features, skeletal anomalies, and variable congenital malformations. Most patients also have seizures and structural brain abnormalities." []
xref: MedGen:CN260597
xref: MeSH:D065886
xref: MIM:618494 "phenotype"
[Term]
id: DI-05611
name: Immunodeficiency 63 with lymphoproliferation and autoimmunity
def: "An autosomal recessive disorder characterized by immune dysregulation resulting in lymphoid proliferation, dermatitis, enteropathy, autoantibodies, hypergammaglobulinemia, and immunodeficiency with recurrent infections. Patients show increased susceptibility to viral infections, particularly cytomegalovirus disease." []
synonym: "CD122 deficiency" [UniProt]
synonym: "Deficiency of interleukin 2 receptor beta" [UniProt]
synonym: "IL2RB deficiency" [UniProt]
xref: MedGen:CN260600
xref: MeSH:D007153
xref: MIM:618495 "phenotype"
[Term]
id: DI-05612
name: Aortic valve disease 3
def: "A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome. AOVD3 features are bicuspid aortic valve, aortic valve stenosis, and ascending aortic aneurysm. Some patients have atrial septal defects. AOVD3 inheritance is autosomal dominant with incomplete penetrance." []
synonym: "Aortic valve stenosis" [UniProt]
synonym: "Bicuspid aortic valve" [UniProt]
xref: MedGen:CN260588
xref: MeSH:D001024
xref: MIM:618496 "phenotype"
[Term]
id: DI-05613
name: Polydactyly, postaxial, A10
def: "A form of postaxial polydactyly, a condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well- formed and articulates with the fifth or a sixth metacarpal/metatarsal. PAPA10 is an autosomal recessive condition characterized by one or more postaxial digits of the hands and/or feet. A rudimentary digit (PAP type B) may also be present. Intrafamilial variability has been observed." []
xref: MedGen:CN260589
xref: MeSH:D017689
xref: MIM:618498 "phenotype"
[Term]
id: DI-05614
name: Noonan syndrome 11
def: "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS11 inheritance is autosomal dominant." []
xref: MedGen:CN260594
xref: MeSH:D009634
xref: MIM:618499 "phenotype"
[Term]
id: DI-05615
name: Holoprosencephaly 12 with or without pancreatic agenesis
def: "An autosomal dominant form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. HPE12 clinical features include abnormal forebrain development, dysmorphic features, global developmental delay, learning difficulties, and congenital absence of the pancreas in most patients, resulting in early-onset insulin-dependent diabetes mellitus. Other features may include hearing loss and absence of the gallbladder." []
xref: MedGen:CN261026
xref: MeSH:D016142
xref: MIM:618500 "phenotype"
[Term]
id: DI-05616
name: Cerebellar atrophy with seizures and variable developmental delay
def: "An autosomal recessive neurologic disorder characterized by cerebellar ataxia, atrophy of the cerebellar vermis, severe refractory seizures with early onset, and global developmental delay compatible with epileptic encephalopathy in most patients. Disease severity is variable and normal cognitive development has also been reported." []
xref: MedGen:CN261027
xref: MeSH:D004827
xref: MeSH:D065886
xref: MIM:618501 "phenotype"
[Term]
id: DI-05617
name: Intellectual developmental disorder, autosomal recessive 71
def: "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT71 features include impaired intellectual development, global developmental delay, mildly delayed walking, poor language, seizures in the first years of life, and behavioral abnormalities." []
xref: MedGen:CN260726
xref: MeSH:D008607
xref: MIM:618504 "phenotype"
[Term]
id: DI-05618
name: Intellectual developmental disorder with speech delay and dysmorphic facies
def: "An autosomal dominant disorder characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature. Hypotonia, ventricular septal defect, and spastic quadriparesis may also be present." []
synonym: "Coffin-Siris syndrome 10" [UniProt]
synonym: "CSS10" [UniProt]
xref: MedGen:CN260602
xref: MeSH:D000015
xref: MeSH:D008607
xref: MIM:618506 "phenotype"
[Term]
id: DI-05619
name: Neuropathy, hereditary motor and sensory, 6C, with optic atrophy
def: "An autosomal recessive neurologic disorder characterized by childhood onset of axonal, sensorimotor polyneuropathy affecting mainly the lower limbs, and adult-onset optic atrophy. Clinical features include progressive distal muscle weakness and atrophy, significant standing and walking difficulties, areflexia, neurogenic pain and progressive visual impairment." []
synonym: "Charcot-Marie-Tooth disease 6C" [UniProt]
synonym: "CMT6C" [UniProt]
synonym: "Hereditary motor and sensory neuropathy type VIC" [UniProt]
synonym: "HMSN VIC" [UniProt]
synonym: "Neuropathy, hereditary motor and sensory, type VIC" [UniProt]
synonym: "Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy" [UniProt]
xref: MedGen:CN260727
xref: MeSH:D002607
xref: MeSH:D015418
xref: MIM:618511 "phenotype"
[Term]
id: DI-05620
name: O'Donnell-Luria-Rodan syndrome
def: "A neurodevelopmental disorder characterized by global developmental delay, speech delay, intellectual disability and a subtle facial gestalt. Additional common features include autism, seizures, hypotonia and functional gastrointestinal abnormalities." []
xref: MedGen:CN261160
xref: MeSH:D065886
xref: MIM:618512 "phenotype"
[Term]
id: DI-05621
name: Leber congenital amaurosis 19
def: "A form of Leber congenital amaurosis, a severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. LCA19 is an autosomal recessive form characterized by reduced vision in early childhood and severely reduced responses of both rods and cones." []
xref: MedGen:CN261157
xref: MeSH:D057130
xref: MIM:618513 "phenotype"
[Term]
id: DI-05622
name: Intellectual developmental disorder, autosomal dominant 59
def: "An autosomal dominant form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:CN262170
xref: MeSH:D008607
xref: MIM:618522 "phenotype"
[Term]
id: DI-05623
name: GIST-plus syndrome
def: "A disorder characterized by multiple mesenchymal tumors of the gastrointestinal tract, including gastrointestinal stromal tumor, inflammatory fibroid polyps, and fibroid tumors. Additional features are coarse facies and skin, broad hands and feet, and premature tooth loss. GISTPS is an autosomal dominant disease with incomplete penetrance. Gastrointestinal stromal tumor and inflammatory fibroid polyps may also occur in isolation." []
synonym: "Gastrointestinal stromal tumor/GIST-plus syndrome" [UniProt]
synonym: "Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal" [UniProt]
xref: MedGen:C1868000
xref: MeSH:D046152
xref: MIM:175510 "phenotype"
[Term]
id: DI-05624
name: Spondyloepimetaphyseal dysplasia, sponastrime type
def: "An autosomal recessive bone disease characterized by spine abnormalities, mid-face hypoplasia with a depressed nasal bridge, and striation of the metaphyses. Additional features include disproportionate short stature with exaggerated lumbar lordosis, scoliosis, coxa vara, limited elbow extension, small dysplastic epiphyses, childhood cataracts, short dental roots, and hypogammaglobulinemia. Disease severity and clinical manifestations are variable. Some patients have intellectual disability." []
synonym: "Short limb dwarfism with saddle nose, spinal alterations and metaphyseal striation" [UniProt]
synonym: "Sponastrime dysplasia" [UniProt]
synonym: "Spondylar and nasal alterations with striated metaphyses" [UniProt]
xref: MedGen:C1300260
xref: MeSH:D010009
xref: MIM:271510 "phenotype"
[Term]
id: DI-05625
name: Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
def: "An autosomal dominant disease characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature. Progression of vertebral fusions has been observed, and inter- and intrafamilial variability has been reported." []
synonym: "Arthrogryposis, distal, type 8" [UniProt]
synonym: "DA8" [UniProt]
synonym: "Multiple pterygium syndrome, autosomal dominant" [UniProt]
synonym: "Pterygium syndrome, multiple, autosomal dominant" [UniProt]
xref: MedGen:C1867440
xref: MeSH:D001176
xref: MIM:178110 "phenotype"
[Term]
id: DI-05626
name: Van Esch-O'Driscoll syndrome
def: "An X-linked recessive syndrome characterized by different degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations." []
synonym: "MRXSVEOD" [UniProt]
xref: MedGen:CN262177
xref: MeSH:D008607
xref: MIM:301030 "phenotype"
[Term]
id: DI-05627
name: Hypoalphalipoproteinemia, primary, 2
def: "An autosomal recessive disorder of lipoprotein metabolism, biochemically characterized by severe apoA-I deficiency and severely reduced serum high-density lipoprotein cholesterol (HDL-C). Affected individuals have undetectable serum levels of apoA-I, and develop xanthomas and corneal opacities. The disease is generally associated with atherosclerosis and markedly increased cardiovascular risk." []
synonym: "Apolipoprotein A-I deficiency" [UniProt]
synonym: "High density lipoprotein deficiency" [UniProt]
synonym: "Hypoalphalipoproteinemia, primary, 2, autosomal recessive" [UniProt]
xref: MedGen:CN262194
xref: MeSH:D052456
xref: MIM:618463 "phenotype"
[Term]
id: DI-05628
name: Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections
def: "An immunologic disorder characterized by recurrent infections, mainly affecting the respiratory tract, skin and eye, and skeletal abnormalities including craniosynostosis and scoliosis. Immunologic workup shows increased serum IgE, intermittent eosinophilia, impaired development of certain B- and T-cell populations, as well as impaired acute-phase response. Disease onset is in early childhood." []
synonym: "Hyper-IgE recurrent infection syndrome 4B, autosomal recessive" [UniProt]
xref: MedGen:CN262171
xref: MeSH:D007589
xref: MIM:618523 "phenotype"
[Term]
id: DI-05629
name: Congenital myopathy 16
def: "An autosomal dominant muscular disorder characterized by muscle weakness, hypotonia associated with high-frequency postural tremor of the limbs, mildly delayed walking, and steppage gait. Additional features include skeletal deformities such as scoliosis, thoracic asymmetry and spinal rigidity. Some patients show mild facial dysmorphic features. Cognitive functions are normal." []
synonym: "Myogenic tremor" [UniProt]
synonym: "Myopathy, congenital, with tremor" [UniProt]
synonym: "MYOTREM" [UniProt]
xref: MedGen:CN262196
xref: MeSH:D009135
xref: MIM:618524 "phenotype"
[Term]
id: DI-05630
name: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies
def: "An autosomal dominant disease characterized by ichthyosis due to epidermal hyperproliferation and increased keratinisation, hypomyelination of the central white matter, spastic paraplegia, central nystagmus, optic atrophy, reduction of peripheral vision and visual acuity, and dysmorphic facial features." []
xref: MedGen:CN262178
xref: MeSH:D007057
xref: MeSH:D009422
xref: MIM:618527 "phenotype"
[Term]
id: DI-05631
name: Mitochondrial DNA depletion syndrome 16, hepatic type
def: "An autosomal recessive disorder characterized by poor feeding, difficulty breathing, abdominal distention, an abnormal carnitine profile, metabolic acidosis and hepatic failure in the neonatal period. Severe mtDNA depletion is observed in liver and muscle biopsies." []
xref: MedGen:CN262181
xref: MeSH:D028361
xref: MIM:618528 "phenotype"
[Term]
id: DI-05632
name: Immunodeficiency 64 with lymphoproliferation
def: "An autosomal recessive primary immunodeficiency characterized by recurrent bacterial, viral and fungal infections, variably decreased numbers of T cells, deficiencies of B and NK cells, and increased susceptibility to Epstein-Barr virus (EBV) infection. Patients may develop lymphoproliferation or EBV-associated lymphoma. Some patients may develop features of autoimmunity." []
xref: MedGen:CN262189
xref: MeSH:D007153
xref: MIM:618534 "phenotype"
[Term]
id: DI-05633
name: Robinow syndrome, autosomal recessive 2
def: "A recessive form of Robinow syndrome, a disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally far more severe in recessive cases, particularly skeletal abnormalities. All patients with the recessive form suffer from vertebral segmentation abnormalities, resulting in scoliosis and chest deformities. Rib fusions are considered to be characteristic of the autosomal recessive form. Patients can also present brachydactyly, with extensive aplasia/hypoplasia of the phalanges and metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and oligodactyly of the feet." []
xref: MedGen:CN262179
xref: MeSH:D004392
xref: MeSH:D014564
xref: MeSH:D017880
xref: MeSH:D019465
xref: MIM:618529 "phenotype"
[Term]
id: DI-05634
name: Erythrokeratodermia variabilis et progressiva 6
def: "A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. EKVP6 inheritance is autosomal dominant." []
xref: MedGen:C5193144
xref: MeSH:D056266
xref: MIM:618531 "phenotype"
[Term]
id: DI-05635
name: Deafness, autosomal dominant, 37
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA37 is a slowly progressive, postlingual form." []
xref: MedGen:CN262182
xref: MeSH:D006319
xref: MIM:618533 "phenotype"
[Term]
id: DI-05636
name: Ectodermal dysplasia 15, hypohidrotic/hair type
def: "A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD15 is an autosomal recessive form characterized by hypotrichosis and absence of sweating except with extreme exercise. Skin is dry from birth and eczematous lesions may develop in adulthood. Other features include blepharitis and photophobia." []
xref: MedGen:CN262183
xref: MeSH:D004476
xref: MIM:618535 "phenotype"
[Term]
id: DI-05637
name: Hypopigmentation, organomegaly, and delayed myelination and development
def: "An autosomal dominant pleiotropic syndrome characterized by skin and hair hypopigmentation, growth and developmental delay, organomegaly including enlarged liver, spleen and kidneys, delayed brain myelination and developmental deficit in motor skills. Skin and liver biopsies show cellular accumulation of large intracellular vacuoles." []
xref: MedGen:C3672352
xref: MeSH:D000015
xref: MIM:618541 "phenotype"
[Term]
id: DI-05638
name: Trichothiodystrophy 7, non-photosensitive
def: "A form of trichothiodystrophy, a disease characterized by sulfur- deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD7 patients do not manifest cutaneous photosensitivity. They have cysteine- and threonine-deficient hair with alternating light and dark 'tiger-tail' banding pattern observed under polarization microscopy. Inheritance pattern is autosomal recessive." []
xref: MedGen:CN262195
xref: MeSH:D054463
xref: MIM:618546 "phenotype"
[Term]
id: DI-05639
name: Neurodevelopmental disorder with visual defects and brain anomalies
def: "A disorder characterized by global developmental delay, speech delay, intellectual disability, structural brain abnormalities, and visual impairments including retinitis pigmentosa and optic atrophy." []
xref: MedGen:CN262197
xref: MeSH:D008607
xref: MIM:618547 "phenotype"
[Term]
id: DI-05640
name: Multiple congenital anomalies-hypotonia-seizures syndrome 4
def: "An autosomal recessive syndrome characterized by onset of refractory seizures in the first months of life. Additional clinical features include severe global developmental delay, dysmorphic facial features, and skeletal, renal and ophthalmic anomalies. At the cellular level, the disorder is caused by a defect in the synthesis of glycosylphosphatidylinositol (GPI)." []
synonym: "EIEE77" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 77" [UniProt]
synonym: "Glycosylphosphatidylinositol biosynthesis defect 19" [UniProt]
synonym: "GPIBD19" [UniProt]
xref: MedGen:CN262219
xref: MeSH:D013036
xref: MIM:618548 "phenotype"
[Term]
id: DI-05641
name: Hepatitis, fulminant viral
def: "An autosomal recessive form of fulminant viral hepatitis, a disease that strikes otherwise healthy individuals during primary infection with common liver-tropic viruses. FVH is characterized by severe liver destruction in the absence of a preexisting liver disorder, leading to encephalopathy within 8 weeks of the onset of the first symptoms." []
xref: MedGen:CN262217
xref: MeSH:D017114
xref: MIM:618549 "phenotype"
[Term]
id: DI-05642
name: Oocyte/zygote/embryo maturation arrest 7
def: "An autosomal dominant infertility disorder due to oocyte degeneration and death, which may occur before or after fertilization." []
synonym: "Oocyte maturation defect 7" [UniProt]
synonym: "OOMD7" [UniProt]
xref: MedGen:CN262218
xref: MeSH:D007247
xref: MIM:618550 "phenotype"
[Term]
id: DI-05643
name: Night blindness, congenital stationary, 1I
def: "A form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. CSNB1I patients present with night blindness from infancy or early childhood. Visual acuity is preserved, but some patients have color vision and/or visual field defects. Progression to mild retinitis pigmentosa may occur. CSNB1I inheritance is autosomal recessive." []
xref: MedGen:CN262223
xref: MeSH:D009755
xref: MIM:618555 "phenotype"
[Term]
id: DI-05644
name: Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
def: "A form of cerebral small vessel disease characterized by the recurrence of ischemic strokes starting in the thirties or forties, and associated with progressive imbalance and cognitive impairment. MRI examination shows ischemic lacunas in the pons and cerebral hemispheres, and diffuse leukoencephalopathy affecting various brain regions." []
xref: MedGen:CN262231
xref: MeSH:D059345
xref: MIM:618564 "phenotype"
[Term]
id: DI-05645
name: Oculoectodermal syndrome
def: "A syndrome characterized by the association of epibulbar dermoids and aplasia cutis congenita. Affected individuals show multiple, asymmetric, atrophic, non-scarring and hairless regions that may be associated with hamartomas. Ectodermal changes include linear hyperpigmentation that may follow the lines of Blaschko and rarely epidermal nevus-like lesions. Epibulbar dermoids may be uni-or bilateral. Additional ocular anomalies such as skin tags of the upper eyelid, rarely optic nerve or retinal changes, and microphthalmia can be present. The phenotypic expression is highly variable, and various other abnormalities have occasionally been reported including growth failure, lymphedema, cardiovascular defects, as well as neurodevelopmental symptoms like developmental delay, epilepsy, learning difficulties, and behavioral abnormalities. Benign tumor-like lesions such as nonossifying fibromas of the long bones and giant cell granulomas of the jaws have repeatedly been observed and appear to be age-dependent, becoming a common manifestation in individuals aged 5 years or older." []
synonym: "Aplasia cutis congenita with epibulbar dermoids" [UniProt]
synonym: "Toriello-Lacassie-Droste syndrome" [UniProt]
xref: MedGen:C1838329
xref: MeSH:D003884
xref: MeSH:D004476
xref: MIM:600268 "phenotype"
[Term]
id: DI-05646
name: Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp
def: "An autosomal recessive neurologic disorder characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood. Clinical features include involuntary movements and difficulties with fine motor skills of the hand." []
synonym: "RE-PED-WC" [UniProt]
xref: MedGen:C1842531
xref: MeSH:D019305
xref: MIM:608105 "phenotype"
[Term]
id: DI-05647
name: Pseudofolliculitis barbae
def: "A common hair disorder characterized by a pustular foreign body inflammatory reaction that is induced by ingrown hairs of the facial and submental (barbea) regions after regular shaving. It primarily affects curly haired males. The etiology of PFB is multifactorial." []
synonym: "Ingrown hairs" [UniProt]
synonym: "Pili incarnati" [UniProt]
xref: MedGen:C0549150
xref: MeSH:D006201
xref: MIM:612318 "phenotype"
[Term]
id: DI-05648
name: Congenital disorder of glycosylation 1CC
def: "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1CC is an X-linked recessive form mainly characterized by intellectual and developmental disability." []
synonym: "Congenital disorder of glycosylation, type Icc" [UniProt]
xref: MedGen:CN262278
xref: MeSH:D018981
xref: MIM:301031 "phenotype"
[Term]
id: DI-05649
name: Basilicata-Akhtar syndrome
def: "An X-linked syndrome characterized by intellectual disability, global developmental delay, progressive gait disturbance, poor or absent speech, facial dysmorphism, and mild distal skeletal anomalies." []
synonym: "Intellectual developmental disorder, X-linked, syndromic, 36" [UniProt]
synonym: "MRXS36" [UniProt]
xref: MedGen:CN262328
xref: MeSH:D038901
xref: MIM:301032 "phenotype"
[Term]
id: DI-05650
name: Hypothyroidism, congenital, non-goitrous, 8
def: "A form of central hypothyroidism, a disorder characterized by sub- optimal thyroid hormone secretion, due to insufficient stimulation by the thyroid stimulating hormone of an otherwise normal thyroid gland. It may be caused by congenital or acquired disorders of the pituitary gland or hypothalamus. CHNG8 is a congenital, X-linked, relatively mild form which may be accompanied by hearing loss in some patients." []
xref: MedGen:CN262333
xref: MeSH:D003409
xref: MIM:301033 "phenotype"
[Term]
id: DI-05651
name: Hypothyroidism, congenital, non-goitrous, 9
def: "A form of central hypothyroidism, a disorder characterized by sub- optimal thyroid hormone secretion, due to insufficient stimulation by thyrotropin of an otherwise normal thyroid gland. It may be caused by congenital or acquired disorders of the pituitary gland or hypothalamus. CHNG9 is a congenital, X-linked recessive form. Patients have a small thyroid gland with low free T4 levels and inappropriately normal levels of thyrotropin." []
xref: MedGen:CN262332
xref: MeSH:D003409
xref: MIM:301035 "phenotype"
[Term]
id: DI-05652
name: Developmental and epileptic encephalopathy 78
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE78 is an autosomal dominant form characterized by onset of refractory seizures in the first days or months of life. Clinical features include severe developmental delay, hypotonia, microcephaly, cortical visual impairment and profound intellectual disability. Some patients manifest a less severe phenotype characterized by pharmacoresponsive epilepsy, autism spectrum disorder and moderate intellectual disability." []
synonym: "EIEE78" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 78" [UniProt]
xref: MedGen:CN262228
xref: MeSH:D013036
xref: MIM:618557 "phenotype"
[Term]
id: DI-05653
name: Developmental and epileptic encephalopathy 79
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE79 is an autosomal dominant form characterized by onset of refractory seizures in the first months of life. Brain imaging may show hypomyelination, cerebral atrophy and thinning of the corpus callosum." []
synonym: "EIEE79" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 79" [UniProt]
xref: MedGen:CN262226
xref: MeSH:D013036
xref: MIM:618559 "phenotype"
[Term]
id: DI-05654
name: Mitochondrial DNA depletion syndrome 17
def: "An autosomal recessive mitochondrial disorder characterized by childhood onset of rapidly progressive encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, multiple defects of oxidative phosphorylation, mitochondrial complex I and IV deficiency, and reduced mtDNA copy number." []
xref: MedGen:CN262227
xref: MeSH:D028361
xref: MIM:618567 "phenotype"
[Term]
id: DI-05655
name: Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
def: "An autosomal recessive neurodevelopmental disorder characterized by intellectual disability, microcephaly, ataxia, and muscular hypotonia." []
xref: MedGen:CN262279
xref: MeSH:D065886
xref: MIM:618569 "phenotype"
[Term]
id: DI-05656
name: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
def: "An autosomal recessive neurodevelopmental disorder characterized by severe global developmental delay with motor impairment, cognitive delays, absent or severely limited speech, dysmorphic features, hypotonia and cataracts." []
xref: MedGen:CN262314
xref: MeSH:D065886
xref: MIM:618571 "phenotype"
[Term]
id: DI-05657
name: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
def: "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, profound intellectual disability, seizures, absent speech, spasticity, facial and limb dysmorphism, and subtle structural brain abnormalities including cerebellar hypoplasia." []
xref: MedGen:CN262315
xref: MeSH:D065886
xref: MIM:618572 "phenotype"
[Term]
id: DI-05658
name: Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
def: "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability, poor language, seizures, dysmorphic features, and thin corpus callosum." []
xref: MedGen:CN262311
xref: MeSH:D065886
xref: MIM:618577 "phenotype"
[Term]
id: DI-05659
name: Hypothyroidism, congenital, non-goitrous, 7
def: "A form of central hypothyroidism, a disorder characterized by sub- optimal thyroid hormone secretion, due to insufficient stimulation by thyrotropin of an otherwise normal thyroid gland. It may be caused by congenital or acquired disorders of the pituitary gland or hypothalamus. CHNG7 is a congenital, autosomal recessive form characterized by normal-to-low T4 and normal-to-high thyrotropin levels, and reduced or absent pituitary responsiveness to thyrotropin- releasing hormone. Patients may exhibit short stature, growth retardation, and delayed bone age, as well as lethargy or fatigue." []
synonym: "Thyrotropin-releasing hormone resistance, generalized" [UniProt]
xref: MedGen:CN262229
xref: MeSH:D003409
xref: MIM:618573 "phenotype"
[Term]
id: DI-05660
name: Congenital myopathy 19
def: "An autosomal recessive muscular disorder characterized by infantile onset of progressive muscular atrophy, hypotonia, ptosis, scoliosis and dysmorphic facial features. Disease severity is variable, ranging from mild to severe." []
synonym: "Myopathy, congenital, progressive, with scoliosis" [UniProt]
synonym: "MYOSCO" [UniProt]
xref: MedGen:CN262312
xref: MeSH:D009135
xref: MIM:618578 "phenotype"
[Term]
id: DI-05661
name: Developmental and epileptic encephalopathy 80
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE80 is an autosomal recessive form characterized by onset of refractory seizures in the first year of life, severe global developmental delay and/or intellectual disability. Additional variable features include polyneuropathy, hearing loss, visual impairment, dysmorphic or coarse facial features, and distal skeletal abnormalities." []
synonym: "EIEE80" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 80" [UniProt]
synonym: "Glycosylphosphatidylinositol biosynthesis defect 20" [UniProt]
synonym: "GPIBD20" [UniProt]
xref: MedGen:CN262313
xref: MeSH:D013036
xref: MIM:618580 "phenotype"
[Term]
id: DI-05662
name: Intellectual developmental disorder, autosomal dominant 60, with seizures
def: "An autosomal dominant disorder characterized by global developmental delay apparent in the first six months of life, followed by onset of seizures between 21 months and 4 years. Disease features include moderate-to-severe intellectual disability, poor speech, delayed walking, and ataxia." []
xref: MedGen:CN262318
xref: MeSH:D008607
xref: MIM:618587 "phenotype"
[Term]
id: DI-05663
name: Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis
def: "An autosomal recessive disorder characterized by global developmental delay, severe-to-profound intellectual disability, muscular hypotonia, seizures, brain anomalies, including thin corpus callosum and cerebellar atrophy, scoliosis, and mild facial dysmorphism." []
synonym: "Glycosylphosphatidylinositol biosynthesis defect 21" [UniProt]
synonym: "GPIBD21" [UniProt]
xref: MedGen:CN262319
xref: MeSH:D008607
xref: MIM:618590 "phenotype"
[Term]
id: DI-05664
name: Nephrotic syndrome 21
def: "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS21 is an autosomal recessive, rapidly progressive, steroid-resistant form characterized by onset of kidney dysfunction in the first year of life. Some patients may have variable extra-renal manifestations." []
xref: MedGen:CN262329
xref: MeSH:D009404
xref: MIM:618594 "phenotype"
[Term]
id: DI-05665
name: Epilepsy, idiopathic generalized 16
def: "An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. EIG16 is characterized by onset of seizures soon after birth or in the first years of life." []
xref: MedGen:CN262334
xref: MeSH:D004829
xref: MIM:618596 "phenotype"
[Term]
id: DI-05666
name: Spastic tetraplegia and axial hypotonia, progressive
def: "An autosomal recessive, neurologic disorder characterized by loss of motor abilities in the first year of life, after which severe, progressive spastic tetraparesis develops. Affected individuals have severe axial hypotonia, hyperekplexia, hypertonia, and myokymia, reflecting upper motor neuron involvement. Cognitive development may be affected." []
synonym: "SOD1 deficiency, autosomal recessive" [UniProt]
xref: MedGen:CN262331
xref: MeSH:D011782
xref: MIM:618598 "phenotype"
[Term]
id: DI-05667
name: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
def: "An autosomal dominant neurodevelopmental disorder characterized by profound infantile-onset hypotonia, developmental delay with poor speech, delayed walking, and impaired intellectual development. Additional variable features include feeding difficulties, dysmorphic features, and visual defects." []
xref: MedGen:CN262335
xref: MeSH:D065886
xref: MIM:618603 "phenotype"
[Term]
id: DI-05668
name: Spermatogenic failure 39
def: "An autosomal recessive infertility disorder characterized by asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic anomalies including short, absent, irregularly shaped and coiled flagella, and abnormalities of the head and midpiece." []
xref: MedGen:CN263107
xref: MeSH:D007248
xref: MIM:618643 "phenotype"
[Term]
id: DI-05669
name: Infantile liver failure syndrome 3
def: "A form of infantile liver failure syndrome, a life-threatening disorder of hepatic function that manifests with acute liver failure in the first months or years of life. ILFS3 is an autosomal recessive form characterized by recurrent episodes of acute liver failure often triggered by infection or fever. Affected individuals also have skeletal anomalies of the vertebral bodies and femoral heads." []
xref: MedGen:CN262533
xref: MeSH:D017093
xref: MIM:618641 "phenotype"
[Term]
id: DI-05670
name: Snijders Blok-Fisher syndrome
def: "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, hypotonia, intellectual disability, autistic features, impairments in speech and language skills, and dysmorphic features including abnormal, cupped, or prominent ears and ocular anomalies." []
xref: MedGen:CN262354
xref: MeSH:D065886
xref: MIM:618604 "phenotype"
[Term]
id: DI-05671
name: Pontocerebellar hypoplasia 13
def: "A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH13 is an autosomal recessive form characterized by delayed psychomotor development, absent speech, severe intellectual disability and postnatal microcephaly, with brain malformations consisting of cerebellar atrophy and hypoplastic corpus callosum. Additional features, including seizures and visual impairment, are variable." []
xref: MedGen:CN262355
xref: MeSH:D002526
xref: MIM:618606 "phenotype"
[Term]
id: DI-05672
name: Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
def: "An autosomal dominant disorder characterized by delayed development, speech delay with nasal speech, and characteristic facial features including upslanted palpebral fissures, anteverted nares, a thin upper lip, and micrognathia. Some patients may have skeletal anomalies, such as brachydactyly, toe syndactyly and flat feet." []
xref: MedGen:CN262377
xref: MeSH:D065886
xref: MIM:618608 "phenotype"
[Term]
id: DI-05673
name: Lower urinary tract obstruction, congenital
def: "A disorder characterized by urinary bladder outflow obstruction, which can represent an anatomical blockage or a functional obstruction. The most common anatomical causes are posterior urethral valves at the level of the prostatic urethra, a lesion unique to males. Less common are anterior urethral valves, also called urethral atresia, that can occur in either sex. LUTO is an autosomal dominant disease with variable expression." []
xref: MedGen:CN262378
xref: MeSH:D014570
xref: MIM:618612 "phenotype"
[Term]
id: DI-05674
name: Retinitis pigmentosa 86
def: "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP86 is an autosomal recessive form." []
xref: MedGen:CN262376
xref: MeSH:D012174
xref: MIM:618613 "phenotype"
[Term]
id: DI-05675
name: Weiss-Kruszka syndrome
def: "An autosomal dominant, multiple congenital anomaly syndrome with variable expressivity and complete penetrance. Patients manifest developmental delay, hypotonia, feeding difficulties, craniofacial abnormalities including ptosis, abnormal head shape, downslanting palpebral fissures, metopic ridging, and craniosynostosis. Variable congenital heart defects can be observed in some patients. A few patients show agenesis of the corpus callosum on brain imaging." []
xref: MedGen:CN262386
xref: MeSH:D000015
xref: MIM:618619 "phenotype"
[Term]
id: DI-05676
name: Abdominal obesity-metabolic syndrome 4
def: "A form of abdominal obesity-metabolic syndrome, a disorder characterized by abdominal obesity, high triglycerides, low levels of high density lipoprotein cholesterol, high blood pressure, and elevated fasting glucose levels. AOMS4 is an autosomal dominant disease. Patients manifest obesity, hypertension, early-onset coronary artery disease and type 2 diabetes." []
xref: MedGen:C5231430
xref: MeSH:D024821
xref: MIM:618620 "phenotype"
[Term]
id: DI-05677
name: Noonan syndrome 12
def: "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS12 inheritance is autosomal dominant. There is considerable variability in severity." []
xref: MedGen:CN262440
xref: MeSH:D009634
xref: MIM:618624 "phenotype"
[Term]
id: DI-05678
name: Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
def: "An autosomal recessive disorder characterized by severe global developmental delay, severely impaired intellectual development with poor or absent speech, severe encephalopathy, microcephaly with simplified gyral pattern, hypomyelination, thin corpus callosum, mild cerebellar hypoplasia, brainstem hypoplasia, congenital arthrogryposis, dysmorphic features, and respiratory problems often leading to early demise." []
xref: MedGen:CN262441
xref: MeSH:D065886
xref: MIM:618622 "phenotype"
[Term]
id: DI-05679
name: Rothmund-Thomson syndrome 1
def: "A form of Rothmund-Thomson syndrome, a disorder characterized by sparse hair, eyebrows and eyelashes, juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dysplastic nails, and skeletal and dental abnormalities. RTS1 is an autosomal recessive form not associated with an increased risk of cancer." []
synonym: "Poikiloderma atrophicans and cataract" [UniProt]
synonym: "Rothmund-Thomson syndrome, type 1" [UniProt]
xref: MedGen:C5231433
xref: MeSH:D011038
xref: MIM:618625 "phenotype"
[Term]
id: DI-05680
name: Usher syndrome 1M
def: "A form of Usher syndrome, a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1M is an autosomal recessive disease characterized by prelingual sensorineural hearing loss, vestibular dysfunction, night blindness, and progressive impairment of vision." []
xref: MedGen:CN262443
xref: MeSH:D052245
xref: MIM:618632 "phenotype"
[Term]
id: DI-05681
name: Siddiqi syndrome
def: "An autosomal recessive disorder characterized by early-onset progressive sensorineural hearing impairment, global developmental delay, regression of motor skills, dystonia, and low body mass index. Some patients have an ichthosis-like appearance of the skin and signs of sensory neuropathy." []
xref: MedGen:CN262532
xref: MeSH:D000015
xref: MIM:618635 "phenotype"
[Term]
id: DI-05682
name: Osteogenesis imperfecta 20
def: "An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI20 is a progressive deforming form characterized by osteopenia, skeletal deformity, healed fractures, and newly-acquired fractures. Death due to respiratory failure can occur in some patients." []
synonym: "Osteogenesis imperfecta, type XX" [UniProt]
xref: MedGen:CN262534
xref: MeSH:D010013
xref: MIM:618644 "phenotype"
[Term]
id: DI-05683
name: Diencephalic-mesencephalic junction dysplasia syndrome 2
def: "An autosomal recessive neurodevelopmental disorder with onset at birth, characterized by severe global developmental delay, hypotonia, spastic tetraparesis, generalized dystonia and severe intellectual impairment. Brain imaging shows a unique brain malformation characterized by agenesis of putamina and globi pallidi, dysgenesis of the caudate nuclei, olfactory bulbs hypoplasia, and anomaly of the diencephalic-mesencephalic junction with abnormal corticospinal tract course." []
synonym: "Spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia" [UniProt]
xref: MedGen:CN262579
xref: MeSH:D065886
xref: MIM:618646 "phenotype"
[Term]
id: DI-05684
name: Immunodeficiency 65
def: "An autosomal recessive immunologic disorder characterized by recurrent viral infections from early infancy. Clinical consequences are pneumonia, bronchiectasis, and septic shock. Affected individuals have lymphopenia or hypogammaglobulinemia, particularly during infection, and impaired cellular type I interferon response. Patients may have adverse response to vaccination with live attenuated vaccines." []
synonym: "Immunodeficiency 65, susceptibility to viral infections" [UniProt]
xref: MedGen:CN262580
xref: MeSH:D007153
xref: MIM:618648 "phenotype"
[Term]
id: DI-05685
name: Oculopharyngodistal myopathy 1
def: "A form of oculopharyngodistal myopathy, a muscle disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles in the muscle fibers and myopathic changes of differing severity. OPDM1 inheritance pattern is autosomal dominant." []
synonym: "Faciooculolaryngopharyngeal myopathy with distal and respiratory involvement" [UniProt]
synonym: "FOLP-DR" [UniProt]
synonym: "Oculopharyngodistal myopathy" [UniProt]
synonym: "OPDM" [UniProt]
xref: MedGen:C1834014
xref: MeSH:D039141
xref: MIM:164310 "phenotype"
[Term]
id: DI-05686
name: Pancreatic cancer 5
def: "A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue." []
xref: MedGen:CN262920
xref: MeSH:D010190
xref: MIM:618680 "phenotype"
[Term]
id: DI-05687
name: Lessel-Kubisch syndrome
def: "An autosomal recessive progeroid syndrome characterized by short stature, pinched facial features, prematurely gray hair, scleroderma- like skin changes, small kidneys and consecutive kidney failure, followed by severe arterial hypertension." []
xref: MedGen:CN262921
xref: MeSH:D019588
xref: MIM:618681 "phenotype"
[Term]
id: DI-05688
name: Cortical dysplasia, complex, with other brain malformations 10
def: "An autosomal recessive disorder of aberrant neuronal migration during brain development. CDCBM10 is clinically characterized by onset in infancy of global developmental delay, impaired intellectual development, seizures, inability to ambulate, and absent language. Brain imaging shows lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter." []
xref: MedGen:CN262902
xref: MeSH:D054220
xref: MIM:618677 "phenotype"
[Term]
id: DI-05689
name: Deafness, autosomal dominant, 27
def: "A form of non-syndromic deafness characterized by postlingual, progressive, moderate to profound sensorineural hearing loss." []
xref: MedGen:C3887929
xref: MeSH:D006319
xref: MIM:612431 "phenotype"
[Term]
id: DI-05690
name: Epilepsy, familial adult myoclonic, 3
def: "A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME3 inheritance is autosomal dominant." []
synonym: "Cortical myoclonic tremor with epilepsy, familial, 3" [UniProt]
synonym: "FCMTE3" [UniProt]
xref: MedGen:C3150860
xref: MeSH:D004831
xref: MIM:613608 "phenotype"
[Term]
id: DI-05691
name: Epilepsy, familial adult myoclonic, 4
def: "A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME4 inheritance is autosomal dominant." []
synonym: "Cortical myoclonic tremor with epilepsy, familial, 4" [UniProt]
synonym: "FCMTE4" [UniProt]
xref: MedGen:C3554560
xref: MeSH:D004831
xref: MIM:615127 "phenotype"
[Term]
id: DI-05692
name: Diarrhea 11, malabsorptive, congenital
def: "A disease characterized by severe, life-threatening watery diarrhea associated with generalized malabsorption and a paucity of enteroendocrine cells. DIAR11 is characterized by onset of intractable diarrhea within the first few weeks of life." []
synonym: "IDIS" [UniProt]
synonym: "Intractable diarrhea of infancy syndrome" [UniProt]
xref: MedGen:CN262701
xref: MeSH:D003968
xref: MIM:618662 "phenotype"
[Term]
id: DI-05693
name: Spermatogenic failure 40
def: "An autosomal recessive infertility disorder characterized by severely reduced or absent sperm motility, due to multiple morphologic anomalies such as absent, short, bent, coiled and irregular-caliber tails. Patient spermatozoa may also show morphologic defects of the sperm head." []
xref: MedGen:CN262872
xref: MeSH:D007248
xref: MIM:618664 "phenotype"
[Term]
id: DI-05694
name: Spermatogenic failure 41
def: "An autosomal recessive infertility disorder characterized by oligozoospermia, severe asthenozoospermia and flagellar abnormalities such as short, absent, coiled, and irregular-caliber flagella. Some sperm show tapered heads and acrosomal abnormalities." []
xref: MedGen:CN262873
xref: MeSH:D007248
xref: MIM:618670 "phenotype"
[Term]
id: DI-05695
name: Sitosterolemia 2
def: "A form of sitosterolemia, an autosomal recessive metabolic disorder characterized by unregulated intestinal absorption of cholesterol, phytosterols and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease." []
xref: MedGen:CN262848
xref: MeSH:D008052
xref: MIM:618666 "phenotype"
[Term]
id: DI-05696
name: Developmental and epileptic encephalopathy 81
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE81 is an autosomal recessive form characterized by onset soon after birth, little developmental progress with no eye contact and no motor or cognitive development. Other features may include facial dysmorphism, such as hypotonic facies and epicanthal folds, as well as sensorineural hearing loss and peripheral neuropathy." []
synonym: "EIEE81" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 81" [UniProt]
xref: MedGen:CN262871
xref: MeSH:D013036
xref: MIM:618663 "phenotype"
[Term]
id: DI-05697
name: Halperin-Birk syndrome
def: "An autosomal recessive, congenital neurodevelopmental disorder characterized by intrauterine growth retardation, microcephaly, marked developmental delay, spastic quadriplegia with profound contractures, pseudobulbar palsy with recurrent aspirations, epilepsy, dysmorphism, neurosensory deafness, optic nerve atrophy with no eye fixation, and death in early childhood. Brain imaging shows semilobar holoprosencephaly and agenesis of corpus callosum." []
synonym: "NEDSOSB" [UniProt]
synonym: "Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies" [UniProt]
xref: MedGen:CN262656
xref: MeSH:D065886
xref: MIM:618651 "phenotype"
[Term]
id: DI-05698
name: Neurooculocardiogenitourinary syndrome
def: "An autosomal dominant multisystem disorder characterized by significant neurological impairment with structural brain defects and seizures, poor feeding, poor postnatal growth, ocular anomalies, dysmorphic facial features, and variable skeletal, cardiac and genitourinary defects. Death in infancy may occur." []
xref: MedGen:CN262657
xref: MeSH:D000015
xref: MIM:618652 "phenotype"
[Term]
id: DI-05699
name: Intellectual developmental disorder with impaired language and dysmorphic facies
def: "An autosomal dominant disorder characterized by intellectual disability, developmental delay, impaired language development, and dysmorphic features including telecanthus, epicanthus, arched eyebrows and low-set ears. Additional features include feeding difficulties, mild cardiac or genitourinary defects, and distal skeletal anomalies." []
xref: MedGen:CN262664
xref: MeSH:D065886
xref: MIM:618653 "phenotype"
[Term]
id: DI-05700
name: Congenital myopathy 8
def: "An autosomal dominant muscular disorder characterized by progressive early-onset muscle weakness, gait difficulties, loss of ambulation, and respiratory insufficiency. Morphological and ultrastructural analyses of muscle biopsies reveal type 1 fiber predominance, multiple structured cores forming a circular arrangement beneath the sarcolemma, and jagged Z-lines." []
synonym: "MSCD" [UniProt]
synonym: "Multiple structured core disease" [UniProt]
synonym: "MYOCOZ" [UniProt]
synonym: "Myopathy, congenital, with structured cores and Z-line abnormalities" [UniProt]
xref: MedGen:CN262665
xref: MeSH:D009135
xref: MIM:618654 "phenotype"
[Term]
id: DI-05701
name: Myopathy, distal, 6, adult onset, autosomal dominant
def: "An autosomal dominant muscular disorder characterized by adult onset of asymmetric distal muscle weakness, primarily affecting the lower limbs and resulting in gait difficulties. Some patients develop involvement of proximal and upper limb muscles." []
xref: MedGen:CN262666
xref: MeSH:D009135
xref: MIM:618655 "phenotype"
[Term]
id: DI-05702
name: Zimmermann-Laband syndrome 3
def: "A form of Zimmermann-Laband syndrome, a rare developmental disorder characterized by facial dysmorphism with bulbous nose and thick floppy ears, gingival enlargement, hypoplasia or aplasia of terminal phalanges and nails, hypertrichosis, joint hyperextensibility, and hepatosplenomegaly. Some patients manifest intellectual disability with or without epilepsy. ZLS3 inheritance is autosomal dominant." []
xref: MedGen:CN262700
xref: MeSH:D000015
xref: MIM:618658 "phenotype"
[Term]
id: DI-05703
name: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
def: "An autosomal dominant disorder characterized by intellectual disability, developmental delay, poor language acquisition, behavioral abnormalities, growth failure, feeding difficulties, microcephaly, facial dysmorphism, and mild skeletal anomalies of the hands and feet." []
xref: MedGen:CN262874
xref: MeSH:D065886
xref: MIM:618659 "phenotype"
[Term]
id: DI-05704
name: Hemolytic anemia due to glutathione reductase deficiency
def: "An autosomal recessive disease characterized by hemolytic anemia and impaired activity of glutathione reductase. Patients experience hemolytic anemia in response to oxidative stress or ingestion of fava beans." []
xref: MedGen:CN262919
xref: MeSH:D000745
xref: MIM:618660 "phenotype"
[Term]
id: DI-05705
name: Intellectual developmental disorder, autosomal recessive 72
def: "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT72 patients manifest moderate to severe intellectual disability, microcephaly, and dysmorphic facial features." []
xref: MedGen:CN262875
xref: MeSH:D008607
xref: MIM:618665 "phenotype"
[Term]
id: DI-05706
name: Hydrocephalus, congenital, 4
def: "An autosomal dominant form of congenital hydrocephalus, a disease characterized by in utero onset of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC4 occurs in the absence of obstruction to cerebrospinal fluid flow between the ventricles (communicating hydrocephalus). Affected individuals have neurodevelopmental delay and epilepsy." []
synonym: "HYDCC1" [UniProt]
synonym: "Hydrocephalus, congenital communicating, 1" [UniProt]
xref: MedGen:CN262876
xref: MeSH:D006849
xref: MIM:618667 "phenotype"
[Term]
id: DI-05707
name: Intellectual developmental disorder with speech delay, autism and dysmorphic facies
def: "An autosomal dominant disorder characterized by mild to severe intellectual disability, developmental delay, delayed or absent speech, hypotonia, short stature, autistic features, and highly variable dysmorphic facial features." []
xref: MedGen:CN262923
xref: MeSH:D065886
xref: MIM:618672 "phenotype"
[Term]
id: DI-05708
name: Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 5
def: "A disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length. PFBMFT5 inheritance is autosomal dominant." []
xref: MedGen:CN262924
xref: MeSH:D000080983
xref: MeSH:D011658
xref: MIM:618674 "phenotype"
[Term]
id: DI-05709
name: Megacystis-microcolon-intestinal hypoperistalsis syndrome
def: "A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a congenital visceral myopathy primarily affecting females, and characterized by loss of smooth muscle contraction in the bladder and intestine. Affected individuals present at birth with functional obstruction of intestine, microcolon, dilation of bladder, and secondary hydronephrosis. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure. MMIHS inheritance is autosomal recessive." []
synonym: "Berdon syndrome" [UniProt]
synonym: "Visceral myopathy" [UniProt]
xref: MedGen:CN969967
xref: MeSH:D007418
xref: MIM:249210 "phenotype"
[Term]
id: DI-05710
name: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy
def: "An X-linked recessive developmental disorder characterized by slowly progressive skeletal and neurologic abnormalities, including short stature, large and deformed joints, significant motor impairment, visual defects, and sometimes cognitive deficits. Affected individuals typically have normal early development in the first year or so of life, followed by development regression and the development of symptoms. Brain imaging shows white matter abnormalities consistent with hypomyelinating leukodystrophy." []
xref: MedGen:C1846148
xref: MeSH:D010009
xref: MIM:300232 "phenotype"
[Term]
id: DI-05711
name: Mitochondrial complex V deficiency, nuclear type 6
def: "An autosomal recessive mitochondrial disorder characterized by gross motor developmental delay manifesting in the first years of life, and subsequent episodic developmental regression. The episodes are associated with metabolic stress, including fever, illness, and general anesthesia. Patients develop gait difficulties or loss of ambulation, as well as other variable abnormalities, including abnormal movements, hemiplegia, and persistent lethargy. Brain imaging shows degenerative features in the basal ganglia and brainstem consistent with a diagnosis of Leigh syndrome." []
synonym: "Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6" [UniProt]
xref: MedGen:CN262927
xref: MeSH:D017237
xref: MIM:618683 "phenotype"
[Term]
id: DI-05712
name: Intellectual developmental disorder with short stature and behavioral abnormalities
def: "An autosomal recessive disorder with onset in infancy and characterized by intellectual disability, developmental delay, short stature, aphasia, and hypotonia. Additional features include seizures and behavioral abnormalities, such as inattention, hyperactivity and aggression." []
xref: MedGen:CN262929
xref: MeSH:D065886
xref: MIM:618687 "phenotype"
[Term]
id: DI-05713
name: Leukodystrophy, hypomyelinating, 19, transient infantile
def: "An autosomal dominant disorder characterized by marked hypomyelination on brain imaging, congenital nystagmus, and motor delay manifesting in early infancy. Both neurologic impairment and abnormal brain imaging spontaneously resolve during childhood." []
xref: MedGen:CN263108
xref: MeSH:D020279
xref: MIM:618688 "phenotype"
[Term]
id: DI-05714
name: Ciliary dyskinesia, primary, 42
def: "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Other more variable features may include infertility and mild hydrocephalus. Patients with this form of the disorder do not have situs abnormalities. CILD42 inheritance is autosomal recessive." []
synonym: "Ciliary dyskinesia, primary, 42, without situs inversus" [UniProt]
xref: MedGen:CN263051
xref: MeSH:D002925
xref: MIM:618695 "phenotype"
[Term]
id: DI-05715
name: Ciliary dyskinesia, primary, 43
def: "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients with this disorder also develop significant obstructive hydrocephalus. Other more variable features include infertility and about a 50% chance of situs inversus or other left-right asymmetry defects. CILD43 inheritance is autosomal dominant." []
synonym: "Ciliary dyskinesia, primary, 43 with or without situs inversus" [UniProt]
xref: MedGen:CN263052
xref: MeSH:D002925
xref: MIM:618699 "phenotype"
[Term]
id: DI-05716
name: Retinitis pigmentosa 87 with choroidal involvement
def: "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP87 is an autosomal dominant form characterized by a slowly progressive visual disturbance accompanied by extensive choroid/retinal atrophy that mimics certain aspects of choroideremia. Disease severity and age of onset are variable, and some carriers are unaffected." []
xref: MedGen:CN276908
xref: MeSH:D012174
xref: MIM:618697 "phenotype"
[Term]
id: DI-05717
name: Short stature and microcephaly with genital anomalies
def: "An autosomal recessive disease characterized by growth failure resulting in severe short stature, severe microcephaly, and delayed and dissociated bone age. Additional features include global psychomotor developmental delay, pubertal delay and genital anomalies." []
xref: MedGen:CN263059
xref: MeSH:D004392
xref: MeSH:D008831
xref: MeSH:D014564
xref: MIM:618702 "phenotype"
[Term]
id: DI-05718
name: Neurodevelopmental disorder with absent language and variable seizures
def: "A disorder characterized by neurodevelopmental abnormalities, including moderate to profound intellectual disability, with autistic features, seizures, severe impairments in speech, and gross motor delay." []
synonym: "Ito-Raymond syndrome" [UniProt]
xref: MedGen:CN263060
xref: MeSH:D065886
xref: MIM:618707 "phenotype"
[Term]
id: DI-05719
name: Neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures
def: "An autosomal dominant disorder characterized by developmental delay, intellectual disability, seizures, autism spectrum disorder, behavioral abnormalities, and variable non-specific brain malformations." []
synonym: "Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures" [UniProt]
xref: MedGen:CN263062
xref: MeSH:D065886
xref: MIM:618709 "phenotype"
[Term]
id: DI-05720
name: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
def: "An autosomal recessive disorder characterized by global developmental delay with severely impaired intellectual development, impaired motor development, axial and peripheral hypotonia, poor speech and significant behavioral abnormalities, including autism spectrum disorder, hyperactivity, mood disorders, aggression, hand and face stereotypies, sleep disturbances, anxiety, self-injurious behavior, and bruxism." []
xref: MedGen:CN263069
xref: MeSH:D065886
xref: MIM:618718 "phenotype"
[Term]
id: DI-05721
name: Megabladder, congenital
def: "An autosomal dominant congenital anomaly characterized by a massively dilated urinary bladder with disrupted smooth muscle in the bladder wall. MGBL is a sex-limited trait with 95% male predominance, and incomplete penetrance. Affected males frequently die in utero." []
xref: MedGen:CN263070
xref: MeSH:D014564
xref: MIM:618719 "phenotype"
[Term]
id: DI-05722
name: Developmental and epileptic encephalopathy 82
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE82 is an autosomal recessive metabolic encephalopathy characterized by epilepsy from the first year of life, global developmental delay, hypotonia and feeding difficulties apparent soon after birth, and intellectual and motor disabilities. Other features include poor overall growth, progressive microcephaly and biochemical abnormalities, including increased serum lactate and ammonia." []
synonym: "Deficiency of mitochondrial glutamate oxaloacetate transaminase" [UniProt]
synonym: "EIEE82" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 82" [UniProt]
synonym: "GOT2 deficiency" [UniProt]
xref: MedGen:CN263109
xref: MeSH:D013036
xref: MIM:618721 "phenotype"
[Term]
id: DI-05723
name: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
def: "An autosomal dominant neurodevelopmental disorder characterized by impaired intellectual development, developmental delay of varying severity, impaired motor skills and language delay. Additional clinical features include macrocephaly, obesity, overgrowth, craniofacial dysmorphism, epilepsy, and variable behavioral manifestations including autism and attention deficit-hyperactivity disorder." []
synonym: "NEDMS" [UniProt]
synonym: "Neurodevelopmental disorder with macrocephaly and with or without seizures" [UniProt]
xref: MedGen:CN263095
xref: MeSH:D065886
xref: MIM:618725 "phenotype"
[Term]
id: DI-05724
name: Premature ovarian failure 16
def: "An autosomal dominant form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol." []
xref: MedGen:CN263090
xref: MeSH:D016649
xref: MIM:618723 "phenotype"
[Term]
id: DI-05725
name: Microphthalmia, syndromic, 15
def: "A form of microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS15 is characterized by microphthalmia and/or coloboma, with developmental delay in which speech appears to be more severely affected than motor abilities. Additional ocular anomalies that have been observed include ptosis, keyhole-shaped pupils, microcornea, sclerocornea, and anterior segment dysgenesis." []
synonym: "Microphthalmia and/or coloboma with developmental delay" [UniProt]
xref: MeSH:D008850
xref: MIM:615145 "phenotype"
[Term]
id: DI-05726
name: Neuronal intranuclear inclusion disease
def: "An autosomal dominant, slowly progressive, neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in the central and peripheral nervous system, and also in the visceral organs. Clinical manifestations are variable and include pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction." []
xref: MedGen:C1863843
xref: MeSH:D019636
xref: MIM:603472 "phenotype"
[Term]
id: DI-05727
name: Heyn-Sproul-Jackson syndrome
def: "An autosomal dominant form of microcephalic dwarfism. Affected individuals have intrauterine growth retardation, postnatal growth restrictions, proportionate short stature, microcephaly, severe developmental delay and impaired intellectual development. More variable features include sparse hair, short broad metacarpals and phalanges, and mild recurrent infections." []
synonym: "Microcephaly, short stature, and impaired intellectual development" [UniProt]
xref: MedGen:CN263103
xref: MeSH:D004392
xref: MeSH:D008607
xref: MIM:618724 "phenotype"
[Term]
id: DI-05728
name: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
def: "A neuroectodermal syndrome characterized by linear hypopigmentation, alopecia, apparently asymptomatic leukoencephalopathy, and facial, ocular, dental and acral anomalies. Patients show no intellectual or neurologic impairment." []
xref: MedGen:CN263104
xref: MeSH:D004476
xref: MIM:618727 "phenotype"
[Term]
id: DI-05729
name: Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
def: "An autosomal dominant bone disease characterized by early postnatal growth deficiency, severe short stature, genu varum, platyspondyly and severe epiphyseal and metaphyseal changes in the lower limbs." []
xref: MedGen:CN263114
xref: MeSH:D010009
xref: MIM:618728 "phenotype"
[Term]
id: DI-05730
name: Liang-Wang syndrome
def: "An autosomal dominant syndrome characterized by a highly variable phenotype and severity. The broad spectrum of clinical features includes developmental delay, intellectual disability, ataxia, axial hypotonia, and poor or absent speech, visceral and cardiac malformations, connective tissue presentations with arterial involvement, bone dysplasia and characteristic craniofacial dysmorphism. About half of patients have cerebral and cerebellar atrophy, and thin corpus callosum." []
xref: MedGen:CN263138
xref: MeSH:D000015
xref: MIM:618729 "phenotype"
[Term]
id: DI-05731
name: Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
def: "An autosomal recessive neurodevelopmental disorder characterized by developmental delay, severe to profound intellectual disability, congenital microcephaly, cortical polymicrogyria, lissencephaly, reduced central white matter volume, and drug-resistant epilepsy, lack of speech, absent ambulation and a progressive neurodegenerative course in most patients. Early death may occur in some patients." []
xref: MedGen:CN263147
xref: MeSH:D065886
xref: MIM:618730 "phenotype"
[Term]
id: DI-05732
name: Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
def: "An autosomal recessive neurodevelopmental disorder characterized by severe developmental delay, impaired intellectual development, hypotonia, brain anomalies including cortical volume loss, corpus callosum dysgenesis and cerebellar hypoplasia, and variable dysmorphic features. Patients may have platyspondyly, scoliosis, and cardiac anomalies." []
xref: MedGen:CN263123
xref: MeSH:D065886
xref: MIM:618731 "phenotype"
[Term]
id: DI-05733
name: Poirier-Bienvenu neurodevelopmental syndrome
def: "An autosomal dominant neurodevelopmental disorder characterized by onset of seizures in infancy, developmental delay, impaired intellectual development, and poor or absent speech." []
xref: MedGen:CN263151
xref: MeSH:D065886
xref: MIM:618732 "phenotype"
[Term]
id: DI-05734
name: Neuromuscular oculoauditory syndrome
def: "An autosomal dominant neuromuscular disorder characterized by variable features including myopathy, neuropathy, hypotonia, joint contractures, growth delay, chorioretinal lacunae, sensorineuronal deafness, agenesis of the corpus callosum, and seizures." []
synonym: "Neuromuscular disease and ocular or auditory anomalies with or without seizures" [UniProt]
xref: MedGen:CN263124
xref: MeSH:D009468
xref: MIM:618733 "phenotype"
[Term]
id: DI-05735
name: Aneurysm, intracranial berry, 12
def: "A form of cerebral aneurysm, a focal abnormal dilatation of a blood vessel in the brain. Berry intracranial aneurysms, also known as saccular aneurysms, have a characteristic rounded shape and account for the vast majority of intracranial aneurysms. They are the most common cause of non-traumatic subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage." []
xref: MedGen:CN263139
xref: MeSH:D002532
xref: MIM:618734 "phenotype"
[Term]
id: DI-05736
name: Structural brain anomalies with impaired intellectual development and craniosynostosis
def: "A disease characterized by microcephaly, agenesis of corpus callosum, abnormal conformation of the ventricles and posterior fossa, hypoplasia of both cerebellar hemispheres, colpocephaly, and partial absence of the cerebellar vermis with fusion of the cerebellar hemispheres. Intellectual development is moderately to severely impaired. Bicoronal synostosis, scoliosis, and tethered cord may be present." []
xref: MedGen:CN263148
xref: MeSH:D003398
xref: MeSH:D008607
xref: MeSH:D009421
xref: MIM:618736 "phenotype"
[Term]
id: DI-05737
name: Cortical dysplasia, complex, with other brain malformations 15
def: "An autosomal recessive disorder characterized by global developmental delay, variably impaired intellectual development, speech delay, facial dysmorphism, microcephaly, and varying degrees of cortical malformations including pachygyria, thin corpus callosum and subcortical band heterotopia. Most patients have generalized seizures." []
synonym: "Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures" [UniProt]
synonym: "PAMDDFS" [UniProt]
xref: MedGen:CN263169
xref: MeSH:D008607
xref: MeSH:D054082
xref: MIM:618737 "phenotype"
[Term]
id: DI-05738
name: Developmental and epileptic encephalopathy 83
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE83 is an autosomal recessive form characterized by onset of frequent, intractable seizures in the first days to months of life. Affected individuals have profound developmental delay with no motor or language skill acquisition, and poor or absent visual tracking. Many patients die in the first years of life." []
synonym: "Barakat-Perenthaler syndrome" [UniProt]
synonym: "EIEE83" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 83" [UniProt]
xref: MedGen:CN263209
xref: MeSH:D013036
xref: MIM:618744 "phenotype"
[Term]
id: DI-05739
name: Spermatogenic failure 42
def: "An autosomal recessive infertility disorder characterized by almost immotile spermatozoa due to multiple morphologic abnormalities of the flagella, including short, absent, coiled, and bent flagella. Some spermatozoa also show abnormalities of the head, acrosome, midpiece, or endpiece." []
xref: MedGen:CN263203
xref: MeSH:D007248
xref: MIM:618745 "phenotype"
[Term]
id: DI-05740
name: Spermatogenic failure 43
def: "An autosomal recessive infertility disorder characterized by asthenospermia due to multiple morphologic abnormalities of sperm flagella, including short, absent, coiled, and bent flagella." []
xref: MedGen:CN263214
xref: MeSH:D007248
xref: MIM:618751 "phenotype"
[Term]
id: DI-05741
name: Intellectual developmental disorder with hypotonia and behavioral abnormalities
def: "An autosomal dominant neurodevelopmental disorder with onset in infancy. IDDHBA is characterized by hypotonia, global developmental delay, learning disability, and behavioral abnormalities, such as autistic features and attention deficit-hyperactivity disorder. Additional variable features may include non-specific facial dysmorphism, congenital heart defects, ocular anomalies, and poor feeding." []
xref: MedGen:CN263213
xref: MeSH:D065886
xref: MIM:618748 "phenotype"
[Term]
id: DI-05742
name: CATIFA syndrome
def: "An autosomal recessive disorder characterized by global developmental delay, intellectual disability, and behavioral abnormalities with mild to severe attention deficit-hyperactivity disorder. Motor, speech and cognitive deficits range from mild to severe. Patients show craniofacial dysmorphism including elongated face, short, broad upturned nose with anteverted nares and long philtrum. Additional clinical features are cleft lip/palate, tooth abnormalities, and visual impairment due to cataract, strabismus and poor visual tracking." []
synonym: "Cleft lip, cataract, tooth abnormality, intellectual disability, facial dysmorphism, attention-deficit hyperactivity disorder" [UniProt]
xref: MedGen:CN263223
xref: MeSH:D065886
xref: MIM:618761 "phenotype"
[Term]
id: DI-05743
name: Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT
def: "An autosomal recessive disease characterized by impaired innervation and autonomic dysfunction of the urinary bladder, hydronephrosis, vesicoureteral reflux, small kidneys, recurrent urinary tract infections, and progressive renal insufficiency. Additional autonomic features are impaired pupillary reflex and orthostatic hypotension. The disease manifests in utero or early childhood." []
synonym: "Atony of urinary bladder" [UniProt]
xref: MedGen:C0403645
xref: MeSH:D001750
xref: MIM:191800 "phenotype"
[Term]
id: DI-05744
name: Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay
def: "An autosomal recessive neurodevelopmental disorder characterized by infantile onset of hypotonia, global developmental delay, delayed walking, and severely impaired intellectual development with profound speech delay. Patients manifest cerebellar atrophy and childhood-onset epilepsy." []
xref: MedGen:C0266470
xref: MeSH:D065886
xref: MIM:213000 "phenotype"
[Term]
id: DI-05745
name: Hydrocephalus, normal pressure, 1
def: "An autosomal dominant neurologic disorder characterized by a slowly progressive gait disorder, urinary incontinence, progressive intellectual decline, and ventricular enlargement on brain imaging. Cerebrospinal fluid pressure tends to be in the high normal range." []
xref: MedGen:C0020258
xref: MeSH:D006850
xref: MIM:236690 "phenotype"
[Term]
id: DI-05746
name: Keratitis-ichthyosis-deafness syndrome, autosomal recessive
def: "An autosomal recessive form of keratitis-ichthyosis-deafness syndrome, a disease characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. KIDAR patients manifest ichthyosis, failure to thrive and developmental delay in childhood, thrombocytopenia, photophobia, and progressive hearing loss. Low plasma copper and ceruloplasmin levels have been reported in some patients." []
synonym: "Desmons syndrome" [UniProt]
synonym: "Ichthyosiform erythroderma, corneal involvement, and deafness" [UniProt]
synonym: "KID syndrome, autosomal recessive" [UniProt]
xref: MedGen:C1275089
xref: MeSH:D003638
xref: MeSH:D007057
xref: MeSH:D007634
xref: MIM:242150 "phenotype"
[Term]
id: DI-05747
name: Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome
def: "An autosomal recessive, lethal embryonic syndrome characterized by absent hindlimbs, pulmonary hypoplasia, severely hypoplastic or absent pelvic bones, hypoplasia of the sacrum, and ambiguous genitalia." []
xref: MedGen:C1832432
xref: MeSH:D004480
xref: MIM:601360 "phenotype"
[Term]
id: DI-05748
name: Intellectual developmental disorder, autosomal dominant 61
def: "An autosomal dominant form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD61 is characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder. Additional features are highly variable and may include non-specific dysmorphic features, obstipation, ocular anomalies, and poor overall growth." []
xref: MedGen:CN263231
xref: MeSH:D008607
xref: MIM:618009 "phenotype"
[Term]
id: DI-05749
name: Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
def: "An autosomal recessive disorder characterized by severely impaired global development apparent soon after birth, early-onset seizures, lack of psychomotor development, spastic quadriparesis, progressive cortical and cerebellar atrophy, and dysmorphic features, including microcephaly. Death in childhood may occur." []
xref: MedGen:CN263281
xref: MeSH:D065886
xref: MIM:618741 "phenotype"
[Term]
id: DI-05750
name: Neutropenia, severe congenital 8, autosomal dominant
def: "A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections." []
xref: MedGen:CN263232
xref: MeSH:D009503
xref: MIM:618752 "phenotype"
[Term]
id: DI-05751
name: Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
def: "An autosomal dominant disorder characterized by axial hypotonia apparent at birth, global developmental delay, intellectual disability, seizures, and autistic features. Involuntary hyperkinetic movements are present in some patients." []
xref: MedGen:CN263233
xref: MeSH:D065886
xref: MIM:618760 "phenotype"
[Term]
id: DI-05752
name: Joubert syndrome 36
def: "A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS36 inheritance is autosomal recessive." []
xref: MedGen:CN263245
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:618763 "phenotype"
[Term]
id: DI-05753
name: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
def: "A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC4 is an autosomal recessive, severe form with onset in utero. Patients manifest little or no fetal movements, significant contractures affecting the upper and lower limbs, dysmorphic facial features, optic atrophy, limb fractures, profound global developmental delay, seizures, and peripheral neuropathy. Many patients die in early childhood." []
synonym: "AMCNACC" [UniProt]
synonym: "Arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum" [UniProt]
synonym: "Zain syndrome" [UniProt]
xref: MedGen:C5231494
xref: MeSH:D001176
xref: MIM:618766 "phenotype"
[Term]
id: DI-05754
name: Corneal dystrophy, Meesmann 2
def: "A form of Meesmann corneal dystrophy, a corneal disease characterized by fragility of the anterior corneal epithelium. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris- laden intraepithelial cysts. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. MECD2 inheritance is autosomal dominant." []
xref: MedGen:CN263246
xref: MeSH:D053559
xref: MIM:618767 "phenotype"
[Term]
id: DI-05755
name: Spastic paraplegia 81, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG81 is a complicated form characterized by white matter abnormalities, hypomyelination with progressive white matter loss, delayed motor development, progressive spasticity, and impaired intellectual development and speech delay. Additional features may include bifid uvula, microcephaly, seizures, and variable ocular anomalies." []
xref: MedGen:CN263276
xref: MeSH:D015419
xref: MIM:618768 "phenotype"
[Term]
id: DI-05756
name: Spastic paraplegia 82, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG82 is a complicated form characterized by global developmental delay with regression, spastic para- or tetraparesis, epilepsy and progressive cerebral and cerebellar atrophy." []
xref: MedGen:CN263277
xref: MeSH:D015419
xref: MIM:618770 "phenotype"
[Term]
id: DI-05757
name: Lymphatic malformation 8
def: "A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Adult patients with lymphedema may suffer from recurrent local infections. Impaired lymphatic drainage in the fetus can develop into hydrops fetalis, a severe condition characterized by excessive fluid accumulation in more than two fetal extra-vascular compartments and body cavities, placental enlargement and edema, pericardial or pleural effusion, or ascites. LMPHM8 is an autosomal recessive form characterized by onset in utero and fetal death due to non-immune hydrops fetalis." []
xref: MedGen:CN263266
xref: MeSH:D015160
xref: MIM:618773 "phenotype"
[Term]
id: DI-05758
name: CEBALID syndrome
def: "An autosomal dominant developmental disorder characterized by global developmental delay, intellectual disability with severe expressive language delay, craniofacial dysmorphism, and structural brain abnormalities. Most patients have an atypical form of rhombencephalosynapsis, a distinctive brain malformation characterized by partial or complete loss of the cerebellar vermis with fusion of the cerebellar hemispheres. Other frequent features include perisylvian polymicrogyria, abnormal posterior clinoid processes, cerebellar hypoplasia or dysplasia, and persistent trigeminal artery." []
synonym: "Craniofacial defects, dysmorphic ears, structural brain abnormalities, expressive language delay, and impaired intellectual development" [UniProt]
synonym: "MCTT" [UniProt]
synonym: "MN1 C-terminal truncation syndrome" [UniProt]
xref: MedGen:CN263278
xref: MeSH:D008607
xref: MeSH:D065886
xref: MIM:618774 "phenotype"
[Term]
id: DI-05759
name: Mitochondrial complex III deficiency, nuclear type 10
def: "A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. MC3DN10 is an autosomal recessive form characterized by fetal bradycardia, poor feeding, hypotonia, hypertrophic cardiomyopathy, alopecia totalis, low mitochondrial complex III activity and lactic acidosis." []
xref: MedGen:CN263279
xref: MeSH:D028361
xref: MIM:618775 "phenotype"
[Term]
id: DI-05760
name: Mitochondrial complex I deficiency, nuclear type 34
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN34 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN263285
xref: MeSH:D028361
xref: MIM:618776 "phenotype"
[Term]
id: DI-05761
name: Deafness, autosomal dominant, 75
def: "A form of non-syndromic deafness characterized by late-onset hearing loss that involves mid and high frequencies, and progresses to encompass all frequencies." []
xref: MedGen:CN263282
xref: MeSH:D034381
xref: MIM:618778 "phenotype"
[Term]
id: DI-05762
name: Deafness, autosomal dominant, 76
def: "A form of non-syndromic deafness characterized by mild to profound sensorineural hearing loss and variable age at onset. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN263293
xref: MeSH:D034381
xref: MIM:618787 "phenotype"
[Term]
id: DI-05763
name: Coffin-Siris syndrome 11
def: "A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS11 is an autosomal dominant form characterized by developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and feet." []
xref: MedGen:CN263286
xref: MeSH:D000015
xref: MeSH:D008607
xref: MIM:618779 "phenotype"
[Term]
id: DI-05764
name: Congenital heart defects, multiple types, 7
def: "An autosomal dominant disorder with incomplete penetrance characterized by congenital developmental abnormalities involving structures of the heart. Common defects include tetralogy of Fallot, pulmonary stenosis or atresia, absent pulmonary valve, right aortic arch, double aortic arch, and major aortopulmonary collateral arteries." []
xref: MedGen:CN263280
xref: MeSH:D006330
xref: MIM:618780 "phenotype"
[Term]
id: DI-05765
name: Ciliary dyskinesia, primary, 44
def: "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD44 inheritance is autosomal recessive." []
synonym: "Ciliary dyskinesia, primary, 44 without situs inversus" [UniProt]
xref: MedGen:CN263303
xref: MeSH:D002925
xref: MIM:618781 "phenotype"
[Term]
id: DI-05766
name: Long QT syndrome 16
def: "An autosomal dominant form of long QT syndrome, a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy." []
xref: MedGen:CN263287
xref: MeSH:D008133
xref: MIM:618782 "phenotype"
[Term]
id: DI-05767
name: Ventricular tachycardia, catecholaminergic polymorphic, 6
def: "An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT6 inheritance is autosomal dominant." []
xref: MedGen:CN263316
xref: MeSH:D017180
xref: MIM:618782 "phenotype"
[Term]
id: DI-05768
name: Imagawa-Matsumoto syndrome
def: "An autosomal dominant syndrome characterized by generalized overgrowth, dysmorphic features, musculoskeletal abnormalities, developmental delay and intellectual disability. Some patients have genitourinary and structural brain abnormalities." []
xref: MedGen:CN263292
xref: MeSH:D000015
xref: MIM:618786 "phenotype"
[Term]
id: DI-05769
name: Developmental and epileptic encephalopathy 84
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE84 is an autosomal recessive form characterized by onset of refractory seizures in the first months of life." []
synonym: "EIEE84" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 84" [UniProt]
synonym: "Jamuar syndrome" [UniProt]
xref: MedGen:CN263317
xref: MeSH:D013036
xref: MIM:618792 "phenotype"
[Term]
id: DI-05770
name: Intellectual developmental disorder, autosomal dominant 62
def: "An autosomal dominant form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD62 is characterized by mild to moderately impaired intellectual development." []
xref: MedGen:CN263332
xref: MeSH:D008607
xref: MIM:618793 "phenotype"
[Term]
id: DI-05771
name: Juvenile arthritis
def: "A rare, familial form of juvenile arthritis characterized by autosomal recessive inheritance and onset in early childhood of symmetric, chronic joint inflammation. It causes joint swelling, pain, stiffness and restricted joint movement. JUVAR has high clinical variability. Some patients exhibit systemic symptoms, including quotidian fever, erythematous rash, generalized lymphadenopathy, hepatomegaly, and/or splenomegaly. Others display polyarthritis without systemic inflammation." []
xref: MedGen:C3495559
xref: MeSH:D001171
xref: MIM:618795 "phenotype"
[Term]
id: DI-05772
name: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
def: "An autosomal recessive disorder characterized by profound neurodevelopmental disability, muscular hypotonia, feeding abnormalities, recurrent fever episodes, infantile spasms, and moderate dysmorphic facial features. Brain imaging shows thin corpus or dysplastic corpus callosum, and additional unspecific abnormalities including gray matter heterotopias, ectopic posterior pituitary, signal abnormalities in basal ganglia, and stratum subependymale." []
xref: MedGen:CN263344
xref: MeSH:D065886
xref: MIM:618797 "phenotype"
[Term]
id: DI-05773
name: Spermatogenic failure 1
def: "An infertility disorder characterized by azoospermia due to spermatogenic arrest during meiosis. Meiotic arrest is characterized by germ cells that enter meiosis and undergo the first chromosomal reduction from 4n to 2n, but that are then unable to proceed further. This results in tubules containing spermatocytes as the latest developmental stage of germ cells. Meiotically arrested spermatocytes accumulate in the tubules and degenerate. Both autosomal recessive and autosomal dominant inheritance have been reported." []
synonym: "Oligochiasmic infertility" [UniProt]
synonym: "Oligosynaptic infertility" [UniProt]
xref: MedGen:C0403810
xref: MeSH:D007248
xref: MIM:258150 "phenotype"
[Term]
id: DI-05774
name: Deafness, autosomal dominant, 7
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA7 is a progressive form with highly variable age at onset and severity, even within families. The age at onset ranges from congenital to mid-adulthood." []
xref: MedGen:C1832379
xref: MeSH:D006319
xref: MIM:601412 "phenotype"
[Term]
id: DI-05775
name: Myopia 27, autosomal dominant
def: "A form of myopia, a refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. MYP27 patients are affected by early-onset high myopia with increased axial lengths. Fundus changes include optic nerve head crescent and tigroid appearance of the posterior retina." []
xref: MedGen:CN263398
xref: MeSH:D009216
xref: MIM:618827 "phenotype"
[Term]
id: DI-05776
name: Retinitis pigmentosa 88
def: "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP88 is an autosomal recessive form." []
xref: MedGen:CN263396
xref: MeSH:D012174
xref: MIM:618826 "phenotype"
[Term]
id: DI-05777
name: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly
def: "An autosomal dominant form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD63 is characterized by moderate to severe impaired intellectual development with poor or absent speech, global developmental delay, and variable behavioral abnormalities. Variable dysmorphic features are preset in half of the patients." []
xref: MedGen:CN263464
xref: MeSH:D008607
xref: MIM:618825 "phenotype"
[Term]
id: DI-05778
name: Basal ganglia calcification, idiopathic, 8, autosomal recessive
def: "A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas." []
xref: MedGen:CN263397
xref: MeSH:D001480
xref: MeSH:D002114
xref: MIM:618824 "phenotype"
[Term]
id: DI-05779
name: Hypotrichosis 5
def: "A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT5 is an autosomal dominant form characterized by little or no scalp hair at birth, wiry and irregular scalp hair in childhood, and sparse or no forehead and parietal hair at puberty. Eyebrows and eyelashes are thin, and pubic and axillary hair fails to develop. Scarring alopecia is modest, and vertex hair is normal." []
synonym: "Marie Unna hereditary hypotrichosis 2" [UniProt]
synonym: "MUHH2" [UniProt]
xref: MedGen:C2748535
xref: MeSH:D007039
xref: MIM:612841 "phenotype"
[Term]
id: DI-05780
name: Ciliary dyskinesia, primary, 45
def: "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD45 is an autosomal recessive form characterized by onset of symptoms in infancy or early childhood. Male patients have infertility due to immotile sperm." []
synonym: "Ciliary dyskinesia, primary, 45, without situs inversus" [UniProt]
xref: MedGen:CN263351
xref: MeSH:D002925
xref: MIM:618801 "phenotype"
[Term]
id: DI-05781
name: Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type
def: "An X-linked recessive disorder characterized by impaired intellectual development, global developmental delay, hypotonia, joint contractures, behavioral abnormalities, Marfanoid habitus, scoliosis, and mildly dysmorphic facies." []
xref: MedGen:CN263370
xref: MeSH:D038901
xref: MIM:301039 "phenotype"
[Term]
id: DI-05782
name: Beck-Fahrner syndrome
def: "A developmental disorder characterized by mild to severe intellectual disability, global developmental delay, hypotonia, autistic traits, movement disorders, growth abnormalities including overgrowth or poor growth, and facial dysmorphism. Both autosomal dominant and autosomal recessive inheritance has been reported." []
xref: MedGen:CN263349
xref: MeSH:D065886
xref: MIM:618798 "phenotype"
[Term]
id: DI-05783
name: Spinocerebellar ataxia, autosomal recessive, 28
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR28 patients manifest mild motor developmental delay, gait ataxia, and dysarthria. Some patients show mildly impaired intellectual development. Disease onset is in early childhood." []
xref: MedGen:CN263364
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:618800 "phenotype"
[Term]
id: DI-05784
name: Respiratory papillomatosis, juvenile recurrent, congenital
def: "An autosomal recessive disease characterized by recurrent growth of papillomas in the respiratory tract, and onset in early childhood. Papillomas are most commonly found in the larynx but may occur anywhere from the mouth to the bronchi. Children typically present within the first years of life with hoarseness or, in more severe cases, respiratory distress or stridor and airway obstruction. JRRP is associated with infection of the upper airway by human papillomaviruses of the alpha genus. The infection is thought to occur by vertical transmission at birth." []
xref: MedGen:CN263365
xref: MeSH:D012141
xref: MeSH:D030361
xref: MIM:618803 "phenotype"
[Term]
id: DI-05785
name: Sandestig-Stefanova syndrome
def: "An autosomal recessive syndrome characterized by pre- and postnatal microcephaly, trigonocephaly, congenital bilateral cataract, microphthalmia, cleft lip and palate or high-arched palate, camptodactyly, rocker-bottom feet, heart anomalies, specific brain changes such as loss of periventricular white matter, thin corpus callosum, and delayed myelinization." []
xref: MedGen:CN263352
xref: MeSH:D000015
xref: MIM:618804 "phenotype"
[Term]
id: DI-05786
name: Triokinase and FMN cyclase deficiency syndrome
def: "An autosomal recessive disease characterized by cataracts and developmental delay that may be associated with cerebellar hypoplasia. Additional features may include liver dysfunction, microcytic anemia, and fatal cardiomyopathy with lactic acidosis following a febrile illness." []
xref: MedGen:CN263353
xref: MeSH:D000015
xref: MIM:618805 "phenotype"
[Term]
id: DI-05787
name: T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
def: "An autosomal dominant disorder characterized by decreased numbers of T cells, particularly cytotoxic CD8+ T cells, and increased susceptibility to recurrent infections, mainly respiratory viral infections. Additional features may include impaired thymic development, skin abnormalities, such as atopic dermatitis, and nail dystrophy." []
xref: MedGen:CN263366
xref: MeSH:D008231
xref: MIM:618806 "phenotype"
[Term]
id: DI-05788
name: Intellectual developmental disorder with poor growth and with or without seizures or ataxia
def: "An autosomal recessive disorder characterized by global developmental delay apparent from infancy, impaired intellectual development, hypotonia, and poor overall growth with microcephaly. Additional variable features include dysmorphic features, cataracts, ataxia and seizures." []
xref: MedGen:CN263395
xref: MeSH:D065886
xref: MIM:618808 "phenotype"
[Term]
id: DI-05789
name: Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
def: "An autosomal recessive multisystem disorder with onset in utero and death in the neonatal period. Affected infants show respiratory insufficiency and almost no spontaneous movement at birth. Additional features include corneal clouding, seizures, dysmorphic facies, contractures, and progressive pontocerebellar hypoplasia with simplified gyral pattern and white matter abnormalities. Some patients may have cardiac anomalies or cardiac hypertrophy." []
synonym: "PHRINL syndrome" [UniProt]
xref: MedGen:CN263387
xref: MeSH:D000015
xref: MeSH:D002526
xref: MIM:618810 "phenotype"
[Term]
id: DI-05790
name: Mitochondrial DNA depletion syndrome 18
def: "An autosomal recessive mitochondrial disorder characterized by early- onset progressive weakness and atrophy of the distal limb muscles, loss of ambulation, and atrophy of the intrinsic hand muscles with clawed hands. Additional features include scoliosis, hypo- or hyperreflexia, and decreased pulmonary vital capacity. Examination of skeletal muscle shows mitochondrial respiratory chain deficiencies involving complexes I and IV, associated with mtDNA depletion." []
xref: MedGen:CN263372
xref: MeSH:D028361
xref: MIM:618811 "phenotype"
[Term]
id: DI-05791
name: Genitourinary and/or brain malformation syndrome
def: "An autosomal dominant syndrome characterized by multiple congenital anomalies including urogenital malformations and brain abnormalities ranging from agenesis of the corpus callosum to anencephaly." []
xref: MedGen:CN263373
xref: MeSH:D001927
xref: MeSH:D014564
xref: MIM:618820 "phenotype"
[Term]
id: DI-05792
name: Rhizomelic limb shortening with dysmorphic features
def: "An autosomal recessive skeletal dysplasia characterized by rhizomelic shortening of limbs as well as variable dysmorphic features, including macrocephaly, short neck, micrognathia, mild proptosis, downslanting palpebral fissures, depressed or broad nasal bridge and long philtrum." []
xref: MedGen:CN263374
xref: MeSH:D010009
xref: MIM:618821 "phenotype"
[Term]
id: DI-05793
name: Congenital myopathy 9A
def: "An autosomal recessive muscular disorder characterized by severe hypotonia apparent at birth, poor feeding, ulnar deviation of the hands, laterally deviated feet, fractures of the long bones, respiratory insufficiency due to muscle weakness, and death in infancy." []
synonym: "Myopathy, congenital, with respiratory insufficiency and bone fractures" [UniProt]
synonym: "MYORIBF" [UniProt]
xref: MedGen:CN263393
xref: MeSH:D009135
xref: MIM:618822 "phenotype"
[Term]
id: DI-05794
name: Congenital myopathy 9B, proximal, with minicore lesions
def: "An autosomal recessive, slowly progressive muscular disorder characterized by primarily proximal muscle weakness, neonatal hypotonia leading to delayed motor development, mildly delayed walking in childhood, and difficulty running or climbing. Cardiac function is unaffected, but most patients have obstructive sleep apnea. Muscle biopsy shows type 1 fiber predominance with disorganized Z-lines and minicores that disrupt the myofibrillar striation pattern." []
synonym: "Myopathy, congenital proximal, with minicore lesions" [UniProt]
synonym: "MYOPMIL" [UniProt]
xref: MedGen:CN263394
xref: MeSH:D009135
xref: MIM:618823 "phenotype"
[Term]
id: DI-05795
name: T-cell immunodeficiency with thymic aplasia
def: "An autosomal recessive disorder characterized by selective hypo- or aplasia of the thymus, T-cell immunodeficiency due to impaired T-cell development, and increased susceptibility to viral infections." []
synonym: "Immune defect due to absence of thymus" [UniProt]
synonym: "Nezelof syndrome" [UniProt]
synonym: "T-lymphocyte deficiency" [UniProt]
xref: MedGen:C2752083
xref: MeSH:D007153
xref: MIM:242700 "phenotype"
[Term]
id: DI-05796
name: Bone marrow failure syndrome 6
def: "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS6 is an autosomal dominant form characterized by intermittent neutropenia, lymphopenia, or anemia associated with hypocellular bone marrow, and increased susceptibility to cancer." []
xref: MedGen:CN280850
xref: MeSH:D000080983
xref: MIM:618849 "phenotype"
[Term]
id: DI-05797
name: Hypervalinemia and hyperleucine-isoleucinemia
def: "An autosomal recessive metabolic disorder characterized by highly elevated plasma concentrations of valine and leucine/isoleucine. Affected individuals suffer from headache and mild memory impairment." []
synonym: "Branched-chain aminotransferase deficiency" [UniProt]
synonym: "Hypervalinemia or hyperleucine-isoleucinemia" [UniProt]
xref: MedGen:CN280851
xref: MeSH:D000592
xref: MIM:618850 "phenotype"
[Term]
id: DI-05798
name: Hypogonadotropic hypogonadism 25 with anosmia
def: "A form of hypogonadotropic hypogonadism, a group of disorders characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone, and no other abnormalities of the hypothalamic- pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). HH25 is an autosomal dominant form with anosmia, characterized by intrafamilial variable expressivity and incomplete penetrance." []
xref: MedGen:CN272917
xref: MeSH:D017436
xref: MIM:618841 "phenotype"
[Term]
id: DI-05799
name: Anauxetic dysplasia 3
def: "An autosomal recessive skeletal dysplasia characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility and dislocations, short metacarpals, broad middle phalanges, and metaphyseal irregularities. Most patients also exhibit motor and cognitive delays." []
xref: MedGen:CN280852
xref: MeSH:D010009
xref: MIM:618853 "phenotype"
[Term]
id: DI-05800
name: Wieacker-Wolff syndrome, female-restricted
def: "An X-linked dominant neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero resulting in fetal akinesia, arthrogryposis multiplex congenita and diffuse contractures apparent at birth, global developmental delay with difficulty walking or inability to walk, hypotonia, variably impaired intellectual development, poor or absent speech and language, and dysmorphic features." []
xref: MedGen:CN272919
xref: MeSH:D001072
xref: MeSH:D003286
xref: MeSH:D009133
xref: MeSH:D009886
xref: MIM:301041 "phenotype"
[Term]
id: DI-05801
name: Holoprosencephaly 13, X-linked
def: "An X-linked form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. HPE13 features range from full alobar holoprosencephaly with cyclopia to semilobar holoprosencephaly or septooptic dysplasia. Dysmorphic features include microcephaly, hypotelorism, low-set ears, micrognathia, and cleft lip/palate. Patients with a more severe phenotype may die in the newborn period, whereas those with a less severe phenotype show global developmental delay." []
xref: MedGen:CN272930
xref: MeSH:D016142
xref: MIM:301043 "phenotype"
[Term]
id: DI-05802
name: Developmental and epileptic encephalopathy 85 with or without midline brain defects
def: "An X-linked form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE85 is characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features. Many patients have midline brain defects on brain imaging." []
synonym: "EIEE85" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 85, with or without midline brain defects" [UniProt]
xref: MedGen:CN272932
xref: MeSH:D013036
xref: MIM:301044 "phenotype"
[Term]
id: DI-05803
name: 46,XY sex reversal 11
def: "An autosomal dominant disorder of sex development. Affected individuals have a 46,XY karyotype and a genital phenotype that may range from predominantly female to predominantly male, including marked sex ambiguity. Approximately half of patients present with micropenis and bilateral or unilateral cryptorchidism, and half present with female-appearing or ambiguous external genitalia." []
synonym: "Anorchia, familial" [UniProt]
synonym: "Testicular regression syndrome" [UniProt]
synonym: "Testicular regression, embryonic" [UniProt]
synonym: "TRS" [UniProt]
synonym: "XY gonadal agenesis/dysgenesis syndrome" [UniProt]
xref: MedGen:C0266427
xref: MeSH:D006061
xref: MIM:273250 "phenotype"
[Term]
id: DI-05804
name: Congenital disorder of glycosylation 2R
def: "A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2R is an X-linked recessive disorder characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa. Some patients may also have mild intellectual impairment and dysmorphic features." []
synonym: "Congenital disorder of glycosylation, type IIr" [UniProt]
xref: MedGen:CN280849
xref: MeSH:D018981
xref: MIM:301045 "phenotype"
[Term]
id: DI-05805
name: Nabais Sa-de Vries syndrome 1
def: "An autosomal dominant disorder characterized by global developmental delay, impaired intellectual development, speech delay, and variable behavioral abnormalities. Affected individuals show congenital microcephaly and dysmorphic facial features, including round face, small palpebral fissures, highly arched eyebrows, and short nose." []
synonym: "Nabais Sa-de Vries syndrome, type 1" [UniProt]
synonym: "NEDMIDF" [UniProt]
synonym: "Neurodevelopmental disorder with microcephaly and dysmorphic facies" [UniProt]
xref: MedGen:CN272909
xref: MeSH:D065886
xref: MIM:618828 "phenotype"
[Term]
id: DI-05806
name: Nabais Sa-de Vries syndrome 2
def: "An autosomal dominant disorder characterized by global developmental delay apparent from birth, impaired intellectual development, speech delay, dysmorphic facial features, and additional anomalies including congenital heart defects, sleep disturbances, hypotonia, and variable endocrine abnormalities." []
synonym: "Nabais Sa-de Vries syndrome, type 2" [UniProt]
synonym: "NEDMACE" [UniProt]
synonym: "Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies" [UniProt]
xref: MedGen:CN272910
xref: MeSH:D065886
xref: MIM:618829 "phenotype"
[Term]
id: DI-05807
name: Epilepsy, early-onset, 2, with or without developmental delay
def: "An autosomal dominant neurologic disorder characterized by early onset of generalized tonic-clonic seizures associated with sharp wave and sharp slow wave discharges on EEG. Some EPEO2 patients have normal psychomotor development and normal brain imaging, whereas others may show developmental delay associated with abnormalities on brain imaging." []
xref: MedGen:CN272918
xref: MeSH:D004830
xref: MIM:618832 "phenotype"
[Term]
id: DI-05808
name: Combined oxidative phosphorylation deficiency 40
def: "An autosomal recessive mitochondrial disorder characterized by prenatal or infantile onset, fetal hydrops, severe hypertrophic cardiomyopathy, poor growth, sensorineural hearing loss, hepatic dysfunction, lactic acidosis, and decreased activities of mitochondrial respiratory complexes I, III, IV, and V. The disorder is lethal, with death occurring in infancy." []
xref: MedGen:CN272920
xref: MeSH:D028361
xref: MIM:618835 "phenotype"
[Term]
id: DI-05809
name: Combined oxidative phosphorylation deficiency 41
def: "An autosomal recessive mitochondrial disorder characterized by prenatal onset, fetal hydrops, intrauterine growth retardation, hypertrophic cardiomyopathy, respiratory insufficiency, lactic acidosis, and decreased activities of mitochondrial respiratory complexes I, III, IV, and V. The disorder is lethal, with death occurring in the perinatal period." []
xref: MedGen:CN272921
xref: MeSH:D028361
xref: MIM:618838 "phenotype"
[Term]
id: DI-05810
name: Combined oxidative phosphorylation deficiency 42
def: "An autosomal recessive mitochondrial disorder characterized by onset in the first months of life, cardiomyopathy, respiratory insufficiency, lactic acidosis, anemia, and variable impairment of mitochondrial respiratory complexes I, III, and IV. Death occurs in infancy." []
xref: MedGen:CN272922
xref: MeSH:D028361
xref: MIM:618839 "phenotype"
[Term]
id: DI-05811
name: Combined oxidative phosphorylation deficiency 43
def: "An autosomal recessive mitochondrial disorder characterized by onset at birth, intrauterine growth retardation, hypotonia, myopathy, feeding difficulties associated with gastroesophageal reflux, and persistently elevated serum lactate and creatine kinase. Brain imaging shows delayed myelination. Muscle biopsy shows decreased activities of mitochondrial respiratory chain complexes I, III, and IV." []
xref: MedGen:CN280853
xref: MeSH:D028361
xref: MIM:618851 "phenotype"
[Term]
id: DI-05812
name: Alopecia-intellectual disability syndrome 4
def: "An autosomal recessive disorder characterized by alopecia universalis, scaly skin, mild to severe intellectual disability, delayed or absent speech, and motor delay." []
xref: MedGen:CN272916
xref: MeSH:D000505
xref: MeSH:D008607
xref: MIM:618840 "phenotype"
[Term]
id: DI-05813
name: Vertebral, cardiac, renal, and limb defects syndrome 3
def: "An autosomal recessive, lethal disorder characterized by severe cardiac and renal anomalies, including hypoplastic or absent left ventricle, transposition of the great arteries, absent pulmonary trunk, and hypoplastic or absent kidneys. Patients also exhibit vertebral segmentation defects and shortening of the proximal long bones or micromelia. Death occurs in early infancy." []
synonym: "Congenital NAD deficiency disorder" [UniProt]
xref: MedGen:CN272929
xref: MeSH:D000015
xref: MIM:618845 "phenotype"
[Term]
id: DI-05814
name: Diets-Jongmans syndrome
def: "An autosomal dominant disorder characterized by varying degrees of intellectual disability, developmental delay, short stature, and characteristic facial features such as a wide mouth, a pointed chin, long ears and a low columella." []
synonym: "IDDFD" [UniProt]
synonym: "Intellectual developmental disorder with distinctive facial dysmorphism" [UniProt]
xref: MedGen:CN272931
xref: MeSH:D065886
xref: MIM:618846 "phenotype"
[Term]
id: DI-05815
name: Immunodeficiency 66
def: "An autosomal recessive primary immunologic disorder characterized by recurrent viral infections from infancy, associated with impaired neutrophil migration due to defects in cytoskeletal actin dynamics." []
xref: MedGen:CN280119
xref: MeSH:D007153
xref: MIM:618847 "phenotype"
[Term]
id: DI-05816
name: Muscular dystrophy, limb-girdle, autosomal recessive 26
def: "An autosomal recessive muscular disorder characterized by adult onset of weakness and atrophy of proximal limb muscles, elevated serum creatine kinase levels, and dystrophic findings on muscle biopsy. There is no cardiac or respiratory involvement." []
xref: MedGen:CN280722
xref: MeSH:D049288
xref: MIM:618848 "phenotype"
[Term]
id: DI-05817
name: Autoinflammation with episodic fever and lymphadenopathy
def: "An autosomal dominant immunologic disorder characterized by early onset of recurrent episodes of unexplained fever, lymphadenopathy, hepatosplenomegaly, and increased levels of inflammatory cytokines and chemokines in patient serum." []
synonym: "Cleavage-resistant RIPK1-induced autoinflammatory syndrome" [UniProt]
synonym: "CRIA syndrome" [UniProt]
xref: MedGen:CN280858
xref: MeSH:D056660
xref: MIM:618852 "phenotype"
[Term]
id: DI-05818
name: Retinal dystrophy with leukodystrophy
def: "An autosomal recessive disorder characterized by progressive leukodystrophy associated with developmental delay, spastic paraparesis, ataxia, and retinal dystrophy. Patients may show facial dysmorphism. Laboratory investigations reveal an abnormal profile of very-long chain fatty acid in plasma." []
xref: MedGen:CN280859
xref: MeSH:D020279
xref: MeSH:D058499
xref: MIM:618863 "phenotype"
[Term]
id: DI-05819
name: Al-Gazali syndrome
def: "A severe disorder characterized by prenatal growth retardation, large joints contractures, camptodactyly, bilateral talipes equinovarus, small mouth, anterior segment anomalies of the eyes, and early lethality. The transmission pattern of the disorder is consistent with autosomal recessive inheritance." []
xref: MedGen:C1836121
xref: MeSH:D000015
xref: MIM:609465 "phenotype"
[Term]
id: DI-05820
name: Cone-rod dystrophy 14
def: "An autosomal dominant form of cone-rod dystrophy, a retinal disease characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors." []
xref: MedGen:C1865869
xref: MeSH:D000071700
xref: MIM:602093 "phenotype"
[Term]
id: DI-05821
name: Autism 20
def: "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. The transmission pattern of AUTS20 is consistent with autosomal dominant inheritance." []
xref: MedGen:CN280925
xref: MeSH:D001321
xref: MIM:618830 "phenotype"
[Term]
id: DI-05822
name: Combined oxidative phosphorylation deficiency 44
def: "An autosomal recessive mitochondrial disorder characterized by onset in infancy or early childhood of global developmental delay, hypotonia, and abnormal movements. Combined oxidative phosphorylation deficiency is present in skeletal muscle. Most patients have seizures associated with status epilepticus. Additional variable features include optic atrophy, hypertrophic cardiomyopathy, stroke-like episodes, and increased lactate levels in serum and cerebrospinal fluid." []
xref: MedGen:CN280867
xref: MeSH:D028361
xref: MIM:618855 "phenotype"
[Term]
id: DI-05823
name: Diabetes mellitus, permanent neonatal, 2
def: "A form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Some PNDM2 patients may also have developmental delay, muscle weakness, epilepsy and dysmorphic features. PNDM2 transmission pattern is consistent with autosomal dominant inheritance." []
synonym: "DEND1" [UniProt]
synonym: "Developmental delay, epilepsy, and neonatal diabetes 1" [UniProt]
synonym: "Diabetes, permanent neonatal 2, with or without neurologic features" [UniProt]
xref: MedGen:CN280868
xref: MeSH:D003920
xref: MIM:618856 "phenotype"
[Term]
id: DI-05824
name: Diabetes mellitus, permanent neonatal, 3
def: "A form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Some PNDM3 patients may also have developmental delay, muscle weakness, and epilepsy. PNDM3 transmission pattern is consistent with autosomal dominant or autosomal recessive inheritance." []
synonym: "DEND2" [UniProt]
synonym: "Developmental delay, epilepsy, and neonatal diabetes 2" [UniProt]
synonym: "Diabetes, permanent neonatal 3, with or without neurologic features" [UniProt]
xref: MedGen:CN280869
xref: MeSH:D003920
xref: MIM:618857 "phenotype"
[Term]
id: DI-05825
name: Diabetes mellitus, permanent neonatal, 4
def: "A form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. PNDM4 transmission pattern is consistent with autosomal dominant or autosomal recessive inheritance." []
xref: MedGen:CN280870
xref: MeSH:D003920
xref: MIM:618858 "phenotype"
[Term]
id: DI-05826
name: Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
def: "An early-onset neurodevelopmental disorder characterized by intellectual disability, motor and speech delay, autistic features, hypotonia, feeding difficulties, spasticity or ataxic gait, and structural brain abnormalities including cerebral atrophy, cerebellar atrophy, and/or thin corpus callosum." []
xref: MedGen:CN280871
xref: MeSH:D065886
xref: MIM:618859 "phenotype"
[Term]
id: DI-05827
name: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
def: "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay with axial hypotonia, inability to sit or walk, impaired intellectual development with absent language, and early-onset intractable seizures in most patients. Additional features include poor overall growth, microcephaly, dysmorphic features, poor eye contact due to cortical blindness, and non-specific brain abnormalities." []
xref: MedGen:CN280872
xref: MeSH:D065886
xref: MIM:618862 "phenotype"
[Term]
id: DI-05828
name: Tremor, hereditary essential 6
def: "A form of essential tremor, a common movement disorder mainly characterized by postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial muscles may also be involved. The condition can be aggravated by emotions, hunger, fatigue and temperature extremes, and may cause a functional disability or even incapacitation. ETM6 inheritance is autosomal dominant." []
xref: MedGen:CN280880
xref: MeSH:D020329
xref: MIM:618866 "phenotype"
[Term]
id: DI-05829
name: Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
def: "An autosomal recessive neurodegenerative disease characterized by progressive ataxia, tremor, cognitive decline, dysphagia, optic atrophy, dysarthria, as well as urinary and bowel incontinence. Brain MRI demonstrates cerebellar atrophy and leukoencephalopathy." []
xref: MedGen:CN280881
xref: MeSH:D019636
xref: MeSH:D056784
xref: MIM:618868 "phenotype"
[Term]
id: DI-05830
name: Skeletal dysplasia, mild, with joint laxity and advanced bone age
def: "An autosomal recessive disorder characterized by skeletal dysplasia, short stature, short long bones, advanced bone age, joint laxity, and facial dysmorphism." []
xref: MedGen:CN280879
xref: MeSH:D001848
xref: MIM:618870 "phenotype"
[Term]
id: DI-05831
name: Nizon-Isidor syndrome
def: "An autosomal dominant neurodevelopmental disorder characterized by intellectual disability, global developmental delay, speech impairment, and behavioral abnormalities including autism spectrum disorder and aggressive behavior. Other features include a thin corpus callosum, and mild facial dysmorphism. Disease onset is in infancy or early childhood." []
xref: MedGen:CN280885
xref: MeSH:D008607
xref: MIM:618872 "phenotype"
[Term]
id: DI-05832
name: Lissencephaly 10
def: "A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS10 is an autosomal dominant form clinically characterized by variably delayed development, mildly to moderately impaired intellectual development, language delay, and seizures. Some patients have normal early development and borderline to mild cognitive impairment." []
xref: MedGen:CN280891
xref: MeSH:D054082
xref: MIM:618873 "phenotype"
[Term]
id: DI-05833
name: Seizures, early-onset, with neurodegeneration and brain calcification
def: "An autosomal recessive neurodegenerative disorder clinically characterized by refractory seizures apparent in the first year of life, mild early developmental delay, and developmental regression after seizure onset. Other features include hypotonia, hyperreflexia, peripheral spasticity, poor eye contact, absent speech, poor head control, and inability to walk. Brain imaging shows reduced white matter volume with delayed myelination, and punctate calcifications." []
xref: MedGen:CN280930
xref: MeSH:D004827
xref: MeSH:D019636
xref: MIM:618875 "phenotype"
[Term]
id: DI-05834
name: Epilepsy, progressive myoclonic 11
def: "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM11 is an autosomal dominant form. Clinical features include normal or mildly delayed early development, developmental regression after seizures onset, inability to walk, severely impaired intellectual development, poor or absent speech, spasticity, ataxia, and intention tremor. Brain imaging shows cerebellar atrophy in some patients." []
xref: MedGen:CN280919
xref: MeSH:D020191
xref: MIM:618876 "phenotype"
[Term]
id: DI-05835
name: Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
def: "An autosomal dominant disorder characterized by global developmental delay apparent in early childhood, cognitive impairment, ataxia, poor or absent speech with dysarthria, hypotonia, hypertonia, extrapyramidal signs, tremor, and abnormal involuntary movements. Affected individuals also exhibit neurological regression in the setting of febrile illness or infection. Many patients have seizures. Brain imaging shows diffuse white matter abnormalities with poor myelination." []
synonym: "LEUDEN syndrome" [UniProt]
xref: MedGen:CN280926
xref: MeSH:D056784
xref: MIM:618877 "phenotype"
[Term]
id: DI-05836
name: Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome
def: "A disorder characterized by delayed motor development, speech delay with dysarthria, hypertonia, progressive spasticity, hyperreflexia, and bradykinesia. Cognition is normal. Patients manifest anxiety and attention deficit-hyperactivity disorder." []
xref: MedGen:CN280927
xref: MeSH:D056784
xref: MIM:618878 "phenotype"
[Term]
id: DI-05837
name: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
def: "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, intellectual disability, hypotonia, cerebellar ataxia, cerebellar atrophy, delayed motor skills, poor or absent speech, and epilepsy in most patients. Some patients manifest facial dysmorphism. Disease onset is in infancy." []
synonym: "Glycosylphosphatidylinositol biosynthesis defect 22" [UniProt]
synonym: "GPIBD22" [UniProt]
xref: MedGen:CN280934
xref: MeSH:D065886
xref: MIM:618879 "phenotype"
[Term]
id: DI-05838
name: Glaucoma, primary closed-angle
def: "An autosomal dominant form of primary glaucoma, an ocular disease characterized by a marked increase of intraocular pressure causing damage to eye structures and function. GLCC is characterized by elevated intraocular pressure due to iridocorneal angle closure with retention of the aqueous humor in the anterior chamber. Iridocorneal angle changes are apparent in the fourth to fifth decade of life, and patients manifest age-related variation in the severity of glaucomatous damage." []
synonym: "Primary angle-closure glaucoma" [UniProt]
xref: MedGen:CN280897
xref: MeSH:D015812
xref: MIM:618880 "phenotype"
[Term]
id: DI-05839
name: Galactosemia 4
def: "A form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC4 inheritance is autosomal recessive." []
synonym: "Galactose mutarotase deficiency" [UniProt]
synonym: "Galactosemia IV" [UniProt]
xref: MedGen:CN280928
xref: MeSH:D005693
xref: MIM:618881 "phenotype"
[Term]
id: DI-05840
name: Imerslund-Grasbeck syndrome 2
def: "A form of Imerslund-Grasbeck syndrome, a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in infancy or early childhood. Clinical manifestations include failure to thrive, infections and neurological damage. Mild proteinuria, with no signs of kidney disease, is present in about half of the patients." []
synonym: "Megaloblastic anemia, Norwegian type" [UniProt]
xref: MedGen:CN280935
xref: MeSH:D000749
xref: MIM:618882 "phenotype"
[Term]
id: DI-05841
name: Hypoparathyroidism, familial isolated, 2
def: "An autosomal recessive form of hypoparathyroidism, a disorder characterized by hypocalcemia and hyperphosphatemia due to a deficiency of parathyroid hormone. Clinical features include seizures, tetany and cramps." []
xref: MedGen:CN280929
xref: MeSH:D007011
xref: MIM:618883 "phenotype"
[Term]
id: DI-05842
name: Proteinuria, chronic benign
def: "An autosomal recessive condition characterized by isolated, non- progressive proteinuria in absence of renal disease and hypertension. Onset of proteinuria is in the first decade of life." []
xref: MedGen:CN280936
xref: MeSH:D011507
xref: MIM:618884 "phenotype"
[Term]
id: DI-05843
name: Congenital disorder of glycosylation 2T
def: "A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2T is an autosomal recessive form characterized by global developmental delay, intellectual disability with language deficit, autistic features, behavioral abnormalities, epilepsy, chronic insomnia, white matter changes on brain imaging, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels." []
synonym: "CDG IIt" [UniProt]
synonym: "CDGIIt" [UniProt]
synonym: "Congenital disorder of glycosylation, type IIt" [UniProt]
xref: MedGen:CN280941
xref: MeSH:D018981
xref: MIM:618885 "phenotype"
[Term]
id: DI-05844
name: Pseudo-TORCH syndrome 3
def: "An autosomal recessive disorder characterized by developmental delay with acute episodes of fever and multisystemic organ involvement, including coagulopathy, elevated liver enzymes, and proteinuria, often associated with thrombotic microangiopathy. Brain imaging shows progressive intracranial calcifications, white matter abnormalities, and sometimes cerebral or cerebellar atrophy. Disease onset is in the neonatal period, and death in early childhood is common." []
xref: MedGen:CN280969
xref: MeSH:D009422
xref: MIM:618886 "phenotype"
[Term]
id: DI-05845
name: Liberfarb syndrome
def: "An autosomal recessive multisystem disorder affecting the eye, ear, bone, and brain development. Clinical features include early-onset retinal degeneration, congenital cataracts, sensorineural hearing loss, microcephaly, intellectual disability, white matter changes, mild facial dysmorphism, and skeletal dysplasia with platyspondyly, scoliosis and short stature." []
synonym: "SEMDLIBF" [UniProt]
synonym: "Spondyloepimetaphyseal dysplasia, Liberfarb type" [UniProt]
xref: MedGen:CN281158
xref: MeSH:D000015
xref: MeSH:D010009
xref: MIM:618889 "phenotype"
[Term]
id: DI-05846
name: Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
def: "An autosomal recessive disorder characterized by global developmental delay, brain abnormalities, mainly ventriculomegaly and/or brain atrophy, intellectual disability, absent speech, peripheral spasticity, and microcephaly. Additional variable features include early-onset seizures, optic atrophy, and dysmorphic facial features. Early death may occur." []
xref: MedGen:CN280970
xref: MeSH:D065886
xref: MIM:618890 "phenotype"
[Term]
id: DI-05847
name: Microcephaly, developmental delay, and brittle hair syndrome
def: "An autosomal recessive disorder characterized by developmental delay, motor and cognitive disabilities, brittle hair and nails, failure to thrive, and short stature." []
xref: MedGen:CN280942
xref: MeSH:D000015
xref: MIM:618891 "phenotype"
[Term]
id: DI-05848
name: Harderoporphyria
def: "An autosomal recessive form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. HARPO is a rare erythropoietic variant form characterized by neonatal hemolytic anemia, sometimes accompanied by skin lesions, and massive excretion of harderoporphyrin in feces." []
xref: MedGen:C0342859
xref: MeSH:D011164
xref: MIM:618892 "phenotype"
[Term]
id: DI-05849
name: Radioulnar synostosis, non-syndromic
def: "An autosomal dominant disease characterized by proximal fusion of the radius and ulna resulting in extremely limited pronation and supination of the forearm. There are two disease forms. Radioulnar synostosis type 1 is characterized by a proximal fusion between the radius and ulna, and the radial head is absent. Radioulnar synostosis type 2 is characterized by a fusion just distal to the proximal radial epiphysis, and congenital dislocation of the radial head. In radioulnar synostosis type 2 there is also a restriction of extension at the elbow." []
xref: MedGen:C0158761
xref: MeSH:D013580
xref: MIM:179300 "phenotype"
[Term]
id: DI-05850
name: Silver-Russell syndrome 4
def: "A form of Silver-Russell syndrome, a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. SRS4 inheritance is autosomal dominant." []
xref: MedGen:CN282529
xref: MeSH:D056730
xref: MIM:618907 "phenotype"
[Term]
id: DI-05851
name: Silver-Russell syndrome 5
def: "A form of Silver-Russell syndrome, a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. SRS5 inheritance is autosomal dominant." []
xref: MedGen:CN282530
xref: MeSH:D056730
xref: MIM:618908 "phenotype"
[Term]
id: DI-05852
name: Intellectual developmental disorder with autistic features and language delay, with or without seizures
def: "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, varying degrees of intellectual disability, autism spectrum disorder, and delayed language. Some patients develop seizures." []
xref: MedGen:CN282600
xref: MeSH:D065886
xref: MIM:618906 "phenotype"
[Term]
id: DI-05853
name: 46,XX sex reversal 5
def: "A condition in which male gonads develop in a genetic female (female to male sex reversal). Additional features in SRXX5 patients are congenital heart disease, congenital diaphragmatic hernia, and blepharophimosis-ptosis-epicanthus inversus syndrome. SRXX5 inheritance is autosomal dominant." []
xref: MedGen:CN281159
xref: MeSH:D058531
xref: MIM:618901 "phenotype"
[Term]
id: DI-05854
name: Developmental and epileptic encephalopathy 86
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE86 inheritance is autosomal recessive." []
synonym: "EIEE86" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 86" [UniProt]
xref: MedGen:CN282591
xref: MeSH:D013036
xref: MIM:618910 "phenotype"
[Term]
id: DI-05855
name: Neuronopathy, distal hereditary motor, autosomal recessive 8
def: "An autosomal recessive disorder characterized by motor axonal neuropathy, slowly progressive distal muscle weakness mainly affecting the lower limbs, difficulty walking, and increased serum sorbitol. Additional variable features are distal sensory impairment, upper limb tremor, scoliosis, and mild hearing loss." []
synonym: "SORDD" [UniProt]
xref: MedGen:C5394466
xref: MeSH:D002239
xref: MeSH:D009468
xref: MIM:618912 "phenotype"
[Term]
id: DI-05856
name: Fanconi renotubular syndrome 5
def: "A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS5 is an autosomal recessive mitochondrial disorder characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis." []
synonym: "Fanconi renotubular syndrome, Acadian variant" [UniProt]
xref: MedGen:CN282533
xref: MeSH:D005198
xref: MIM:618913 "phenotype"
[Term]
id: DI-05857
name: Fanconi renotubular syndrome 1
def: "A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS1 inheritance is autosomal dominant." []
synonym: "Adult Fanconi syndrome" [UniProt]
synonym: "Fanconi renotubular syndrome" [UniProt]
synonym: "Fanconi syndrome without cystinosis" [UniProt]
synonym: "FRTS" [UniProt]
synonym: "Luder-Sheldon syndrome" [UniProt]
synonym: "Renal Fanconi syndrome" [UniProt]
synonym: "RFS" [UniProt]
xref: MedGen:C0341703
xref: MedGen:C4551503
xref: MeSH:D005198
xref: MIM:134600 "phenotype"
[Term]
id: DI-05858
name: Neurodevelopmental, jaw, eye, and digital syndrome
def: "An autosomal dominant syndrome characterized by variable features including mild-to-severe developmental delay, speech delay, autistic and/or stereotypical behaviors, ocular anomalies, under- or overdeveloped jaw, and digital anomalies such as brachydactyly, clinodactyly, syndactyly, and contractures." []
xref: MedGen:CN282599
xref: MeSH:D009140
xref: MeSH:D065886
xref: MIM:618914 "phenotype"
[Term]
id: DI-05859
name: Deafness, autosomal dominant, 77
def: "A form of non-syndromic deafness characterized by adult onset of bilateral, postlingual, mild-to-severe sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN282602
xref: MeSH:D034381
xref: MIM:618915 "phenotype"
[Term]
id: DI-05860
name: Developmental and epileptic encephalopathy 87
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE87 inheritance is autosomal dominant." []
synonym: "EIEE87" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 87" [UniProt]
xref: MedGen:CN283238
xref: MeSH:D013036
xref: MIM:618916 "phenotype"
[Term]
id: DI-05861
name: Neurodevelopmental disorder with language impairment and behavioral abnormalities
def: "A neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, poor or absent speech, and behavioral abnormalities, such as autism spectrum disorder, repetitive behaviors, and hyperactivity. Some patients develop seizures and manifest developmental regression." []
xref: MedGen:CN283239
xref: MeSH:D065886
xref: MIM:618917 "phenotype"
[Term]
id: DI-05862
name: Periventricular nodular heterotopia 9
def: "A form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH9 is an autosomal dominant disorder with incomplete penetrance, characterized by impaired intellectual development, cognitive defects, learning disabilities, and behavior abnormalities. Some patients develop seizures." []
xref: MedGen:C5394503
xref: MeSH:D054091
xref: MIM:618918 "phenotype"
[Term]
id: DI-05863
name: Arrhythmogenic right ventricular dysplasia, familial, 14
def: "A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias." []
xref: MedGen:CN283234
xref: MeSH:D019571
xref: MIM:618920 "phenotype"
[Term]
id: DI-05864
name: Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
def: "An autosomal dominant, syndromic neurodevelopmental disorder characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, mirror movements, dysmorphic features, and ocular, cardiac, and genital anomalies." []
xref: MedGen:CN283241
xref: MeSH:D065886
xref: MIM:618929 "phenotype"
[Term]
id: DI-05865
name: Pyrin-associated autoinflammatory disease
def: "An autosomal dominant autoinflammatory disorder characterized by childhood onset of recurrent episodes of fever, neutrophilic dermatosis, myalgia and arthralgia. The neutrophilic dermatosis comprises a spectrum of clinical manifestations, including severe acne, sterile skin abscesses, pyoderma gangrenosum, and neutrophilic small-vessel vasculitis. Pathological examination of affected skin shows a dense, predominantly neutrophilic, vascular, perivascular, and interstitial infiltrate. PAAND has incomplete penetrance and variable expressivity." []
synonym: "AFND" [UniProt]
synonym: "Gomm-Button disease" [UniProt]
synonym: "Neutrophilic dermatosis, acute febrile" [UniProt]
synonym: "SS" [UniProt]
synonym: "Sweet syndrome" [UniProt]
xref: MedGen:C0085077
xref: MeSH:D056660
xref: MIM:608068 "phenotype"
[Term]
id: DI-05866
name: Hao-Fountain syndrome
def: "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, varying degrees of intellectual disability, autism spectrum disorder, poor or absent speech, and mild facial dysmorphism. Most patients develop seizures. Additional variable features include hypotonia, hypogonadism in males, and ocular anomalies." []
synonym: "Intellectual developmental disorder with impaired speech, behavioral abnormalities, and dysmorphic facies" [UniProt]
xref: MedGen:C4225667
xref: MeSH:D065886
xref: MIM:616863 "phenotype"
[Term]
id: DI-05867
name: Warfarin sensitivity, X-linked
def: "A condition characterized by sensitivity to warfarin, a drugs used as anti-coagulants for the prevention of thromboembolic diseases in subjects with deep vein thrombosis, atrial fibrillation, or mechanical heart valve replacement. Warfarin sensitive individuals develop bleeding complications when they are given warfarin within the therapeutic ranges." []
synonym: "Coumarin sensitivity, X-linked" [UniProt]
xref: MedGen:CN283288
xref: MeSH:D004351
xref: MIM:301052 "phenotype"
[Term]
id: DI-05868
name: Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
def: "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, hypotonia, severe to profound intellectual disability, early-onset epilepsy, and microcephaly. Neuroimaging shows cerebral atrophy, thin corpus callosum and hypomyelination in a majority of cases. Death in childhood may occur." []
xref: MedGen:CN283267
xref: MeSH:D065886
xref: MIM:618922 "phenotype"
[Term]
id: DI-05869
name: Episodic ataxia 9
def: "An autosomal dominant neurologic disorder characterized by episodic ataxia manifesting in the first years of life, early-onset seizures, difficulty walking, dizziness, slurred speech, headache, vomiting, and pain. The duration of ataxic episodes is heterogeneous. Most patients show episodes lasting minutes to maximum several hours, but periods lasting days up to weeks have been reported. Some patients have mildly delayed development with speech delay and/or autistic features or mildly impaired intellectual development." []
xref: MedGen:CN230100
xref: MeSH:D001259
xref: MIM:618924 "phenotype"
[Term]
id: DI-05870
name: Granulomatous disease, chronic, autosomal recessive, 5
def: "A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. CGD5 is an autosomal recessive form characterized by onset of recurrent infections and severe colitis in the first decade of life. Clinical manifestations include increased susceptibility to catalase-positive organisms, features of inflammatory bowel disease, lymphopenia, lymphadenitis, and autoinflammatory symptoms in some patients." []
synonym: "Granulomatous disease, chronic, due to CYBC1 deficiency" [UniProt]
xref: MedGen:CN283260
xref: MeSH:D006105
xref: MIM:618935 "phenotype"
[Term]
id: DI-05871
name: Treacher Collins syndrome 4
def: "A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. TCS4 inheritance pattern is autosomal dominant." []
synonym: "Treacher-Collins syndrome 4" [UniProt]
xref: MedGen:CN283261
xref: MeSH:D008342
xref: MIM:618939 "phenotype"
[Term]
id: DI-05872
name: Oculopharyngodistal myopathy 2
def: "A form of oculopharyngodistal myopathy, a muscle disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles in the muscle fibers and myopathic changes of differing severity. OPDM2 inheritance pattern is autosomal dominant." []
xref: MedGen:CN283268
xref: MeSH:D039141
xref: MIM:618940 "phenotype"
[Term]
id: DI-05873
name: Hyper-IgE syndrome 5, autosomal recessive, with recurrent infections
def: "An immunologic disorder characterized by recurrent sinopulmonary and deep skin infections, mostly caused by bacteria, including H. influenza and Staphylococcus aureus. Additional features include asthma, atopic dermatitis, and impaired inflammatory responses during infection. Disease onset is in early infancy." []
synonym: "Hyper-IgE recurrent infection syndrome 5, autosomal recessive" [UniProt]
xref: MedGen:CN283281
xref: MeSH:D007589
xref: MIM:618944 "phenotype"
[Term]
id: DI-05874
name: Arthrogryposis multiplex congenita 5
def: "A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC5 is an autosomal recessive form characterized by severe congenital contractures, developmental delay, strabismus and tremor." []
xref: MedGen:CN283302
xref: MeSH:D001176
xref: MIM:618947 "phenotype"
[Term]
id: DI-05875
name: Heterotaxy, visceral, 9, autosomal, with male infertility
def: "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX9 is an autosomal recessive form associated with male infertility, mainly due to defective sperm motility." []
xref: MedGen:CN283286
xref: MeSH:D059446
xref: MIM:618948 "phenotype"
[Term]
id: DI-05876
name: Suleiman-El-Hattab syndrome
def: "An autosomal recessive syndrome characterized by global developmental delay with poor expressive language, poor fine motor skills and hypotonia, microcephaly, feeding difficulties with failure to thrive, recurrent respiratory infections, cardiovascular malformations, cryptorchidism, happy demeanor, and facial dysmorphism. Distinctive facial features are excessive forehead hair, arched and thick eyebrows with synophrys, epicanthus, hypertelorism, thick eyelids with periorbital fullness, broad nasal bridge, long and smooth philtrum, thin upper lip, and low set prominent ears." []
xref: MedGen:CN283296
xref: MeSH:D065886
xref: MIM:618950 "phenotype"
[Term]
id: DI-05877
name: Combined oxidative phosphorylation deficiency 45
def: "An autosomal recessive mitochondrial disorder with onset in utero and characterized by poor overall growth, failure to thrive, global developmental delay, poor or absent speech, seizures, hypotonia, loss of walking, acute progressive neurologic deterioration, brain lesions, and facial dysmorphism. Laboratory studies show increased serum lactate and decreased mitochondrial respiratory chain enzyme activity in patient tissues." []
xref: MedGen:CN283297
xref: MeSH:D028361
xref: MIM:618951 "phenotype"
[Term]
id: DI-05878
name: Combined oxidative phosphorylation deficiency 46
def: "An autosomal recessive disorder characterized by childhood-onset mitochondrial respiratory chain complex deficiencies, particularly complexes I and IV, and hepatic disease." []
xref: MedGen:CN283298
xref: MeSH:D028361
xref: MIM:618952 "phenotype"
[Term]
id: DI-05879
name: Retinitis pigmentosa 89
def: "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP89 is an autosomal dominant form associated with features of ciliopathy, including postaxial polydactyly, and renal and hepatic disease." []
xref: MedGen:CN283270
xref: MeSH:D012174
xref: MIM:618955 "phenotype"
[Term]
id: DI-05880
name: Retinitis pigmentosa 32
def: "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP32 inheritance is autosomal recessive." []
xref: MedGen:C1835927
xref: MeSH:D012174
xref: MIM:609913 "phenotype"
[Term]
id: DI-05881
name: Periodic fever, immunodeficiency, and thrombocytopenia syndrome
def: "An immunologic disorder with variable manifestations including early- onset recurrent respiratory infections, stomatitis, cutaneous infections, and neutropenia." []
synonym: "Lazy leukocyte syndrome" [UniProt]
xref: MedGen:C0272174
xref: MeSH:D007153
xref: MIM:150550 "phenotype"
[Term]
id: DI-05882
name: Combined oxidative phosphorylation deficiency 47
def: "An autosomal recessive, multisystemic, mitochondrial disorder characterized by intrauterine growth retardation, swallowing difficulties with failure to thrive, hypoglycemia, dehydration, and hepatomegaly. Additional features include global developmental delay with impaired intellectual development and absent speech, microcephaly, facial dysmorphism, cataract, sensorineural deafness, skeletal features, and cryptorchidism. Laboratory studies show metabolic acidosis, increased serum lactate, and variably impaired activity of mitochondrial respiratory complexes I, III, IV, and V in different tissues." []
xref: MedGen:CN283299
xref: MeSH:D028361
xref: MIM:618958 "phenotype"
[Term]
id: DI-05883
name: Developmental and epileptic encephalopathy 88
def: "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE88 is an autosomal recessive severe form characterized by global developmental delay, epilepsy, and progressive microcephaly." []
synonym: "EIEE88" [UniProt]
synonym: "Epileptic encephalopathy, early infantile, 88" [UniProt]
xref: MedGen:CN283282
xref: MeSH:D013036
xref: MIM:618959 "phenotype"
[Term]
id: DI-05884
name: Mitchell syndrome
def: "A disorder characterized by episodic demyelination, sensorimotor polyneuropathy, and sensorineural hearing loss." []
xref: MedGen:CN283287
xref: MeSH:D002607
xref: MeSH:D015418
xref: MIM:618960 "phenotype"
[Term]
id: DI-05885
name: Spondylometaphyseal dysplasia with corneal dystrophy
def: "An autosomal recessive disorder characterized by postnatal growth deficiency, profound limb shortening with proximal and distal segments involvement, narrow chest, radiological abnormalities involving the spine, pelvis and metaphyses, corneal clouding, and intellectual disability." []
xref: MedGen:CN283284
xref: MeSH:D003317
xref: MeSH:D010009
xref: MIM:618961 "phenotype"
[Term]
id: DI-05886
name: Immunodeficiency 69
def: "A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. IMD69 is an autosomal recessive disorder manifesting with fever, hepatosplenomegaly, leukocytosis, and thrombocytosis during the acute infection." []
synonym: "IFNG deficiency, autosomal recessive" [UniProt]
synonym: "Immunodeficiency 69, mycobacteriosis, autosomal recessive" [UniProt]
xref: MedGen:CN283304
xref: MeSH:D007153
xref: MeSH:D009164
xref: MIM:618963 "phenotype"
[Term]
id: DI-05887
name: Immunodeficiency 70
def: "A primary immunodeficiency clinically characterized by human papillomavirus-associated warts on the hands, feet and face, recurrent bacterial infections, and autoinflammatory features, such as colitis, celiac disease, and retinal vasculitis. Immunologic workup shows decreased CD4+ T cells, decreased CD19+ B cells, and hypogammaglobulinemia. IMD70 inheritance is autosomal dominant with incomplete penetrance." []
xref: MedGen:CN283303
xref: MeSH:D007153
xref: MIM:618969 "phenotype"
[Term]
id: DI-05888
name: Cone-rod synaptic disorder syndrome, congenital non-progressive
def: "An autosomal recessive disorder characterized by reduced visual acuity, photophobia, nystagmus, distinctive electroretinographic features, neurodevelopmental delay, poor or absent language, autistic behaviors, and abnormal glucose homeostasis." []
xref: MedGen:CN283300
xref: MeSH:D014786
xref: MeSH:D065886
xref: MIM:618970 "phenotype"
[Term]
id: DI-05889
name: Immunodeficiency 74, COVID19-related, X-linked
def: "An X-linked recessive immunologic disorder characterized by impaired type I and type II interferon responses due to defective TLR7 signaling. Individuals with TLR7 deficiency develop severe respiratory insufficiency in response to infection with SARS-CoV-2 coronavirus. Death from respiratory failure may occur." []
synonym: "Respiratory insufficiency due to SARS-CoV-2 viral infection" [UniProt]
synonym: "TLR7 deficiency" [UniProt]
xref: MedGen:CN283338
xref: MeSH:D007153
xref: MIM:301051 "phenotype"
[Term]
id: DI-05890
name: Tolchin-Le Caignec syndrome
def: "An autosomal dominant disorder characterized by mildly to moderately impaired intellectual development and behavioral problems, such as autism, attention deficit and hyperactivity disorder, and aggressive episodes. Highly variable, additional features include osteochondroma, craniosynostosis, dysmorphic facies, arachnodactyly, and large head circumference." []
synonym: "Intellectual developmental disorder with behavioral abnormalities and variable bone defects" [UniProt]
xref: MedGen:CN283309
xref: MeSH:D065886
xref: MIM:618971 "phenotype"
[Term]
id: DI-05891
name: Mitochondrial DNA depletion syndrome 19
def: "An autosomal recessive mitochondrial disorder characterized by progressive and severe epileptic encephalopathy, hypotonia, poor spontaneous movements evolving to spastic quadriparesis and dyskinesias, and respiratory complex I deficiency and mitochondrial DNA depletion in skeletal muscle." []
xref: MedGen:CN283308
xref: MeSH:D028361
xref: MIM:618972 "phenotype"
[Term]
id: DI-05892
name: Sodium-dependent multivitamin transporter deficiency
def: "An autosomal recessive multisystemic metabolic disorder characterized by early infantile onset, progressive neurodegeneration, global developmental delay, and developmental regression with loss of early motor and cognitive milestones. Additional variable features include seizures, ataxia, spasticity, peripheral neuropathy, immune defects, and osteopenia. Treatment with biotin, pantothenic acid, and lipoate may result in clinical improvement." []
synonym: "NERIB" [UniProt]
synonym: "Neurodegeneration, infantile-onset, biotin-responsive" [UniProt]
synonym: "SMVT deficiency" [UniProt]
xref: MedGen:CN283310
xref: MeSH:D020271
xref: MIM:618973 "phenotype"
[Term]
id: DI-05893
name: Optic atrophy 12
def: "An autosomal dominant disease characterized by progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA12 patients manifest slowly progressive visual impairment with onset usually in the first decade. Some patients may exhibit additional features including impaired intellectual development, dystonia, movement disorders, or ataxia." []
xref: MedGen:CN283325
xref: MeSH:D015418
xref: MIM:618977 "phenotype"
[Term]
id: DI-05894
name: Li-Ghorbani-Weisz-Hubshman syndrome
def: "An autosomal dominant disorder characterized by global developmental delay, mild to moderate intellectual disability, speech and language impairment, and variable facial dysmorphism. Some patients have seizures and autistic features. Brain imaging abnormalities are observed in some patients and include decreased white matter volume, enlarged ventricles, thin corpus callosum, and gray matter nodular heterotopia." []
xref: MedGen:CN283319
xref: MeSH:D065886
xref: MIM:618974 "phenotype"
[Term]
id: DI-05895
name: Congenital myopathy 17
def: "An autosomal recessive muscular disorder characterized by hypotonia and respiratory insufficiency apparent soon after birth, high diaphragmatic dome on imaging, poor overall growth, pectus excavatum, dysmorphic facies, and renal anomalies in some affected individuals. Additional variable features include delayed motor development, mildly decreased endurance, distal arthrogryposis, and lung hypoplasia resulting in early death." []
synonym: "MYODRIF" [UniProt]
synonym: "Myopathy, congenital, due to MYOD1 deficiency" [UniProt]
synonym: "Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies" [UniProt]
xref: MedGen:CN283324
xref: MeSH:D009135
xref: MIM:618975 "phenotype"
[Term]
id: DI-05896
name: Immunodeficiency 72 with autoinflammation and lymphoproliferation
def: "An autosomal recessive immunologic disorder characterized by onset in the first year of life, recurrent bacterial and viral skin infections, severe respiratory tract infections leading to pneumonia and bronchiectasis, and poor specific antibody responses. Patients also exhibit atopic and inflammatory disease alongside chronic hepatosplenomegaly, lymphoproliferation and lymphadenopathy, and autoimmune manifestations." []
xref: MedGen:CN283327
xref: MeSH:D007153
xref: MIM:618982 "phenotype"
[Term]
id: DI-05897
name: Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant
def: "An autosomal dominant form of growth hormone insensitivity syndrome, a congenital disease characterized by short stature, growth hormone deficiency in the presence of normal to elevated circulating concentrations of growth hormone, resistance to exogeneous growth hormone therapy, and recurrent infections. GHISID2 patients usually have delayed bone age, delayed puberty, and decreased serum IGF1. Some patients may have features of mild immune dysregulation, such as eczema, increased serum IgE, asthma, or celiac disease." []
xref: MedGen:CN283329
xref: MeSH:D046150
xref: MIM:618985 "phenotype"
[Term]
id: DI-05898
name: Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia
def: "An autosomal dominant immunologic disorder characterized by respiratory infections, cellulitis, severe invasive infections, B- and T-cell lymphopenia, and impaired neutrophil chemotaxis. Disease onset is in infancy or early childhood." []
xref: MedGen:CN283330
xref: MeSH:D007153
xref: MIM:618986 "phenotype"
[Term]
id: DI-05899
name: Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia
def: "An autosomal recessive immunologic disorder characterized by recurrent respiratory infections, decreased B cells, hypogammaglobulinemia, and impaired neutrophil chemotaxis. Variable features are urticaria, recurrent erythematous plaques, food allergy, arthralgia, bronchiectasis, and lymphadenopathy. In addition, patients suffer from glomerulonephritis, coagulopathy, multiple hormone deficiencies, and abnormalities of neutrophil granules." []
xref: MedGen:CN283331
xref: MeSH:D007153
xref: MIM:618987 "phenotype"
[Term]
id: DI-05900
name: Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B15
def: "An autosomal recessive, congenital muscular disorder characterized by hyperCKemia, myopathic features observed on muscle biopsy, developmental delay, mildly impaired intellectual development with learning difficulties, epilepsy, and mild white matter abnormalities." []
synonym: "Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15" [UniProt]
xref: MedGen:CN283339
xref: MeSH:D009136
xref: MIM:618992 "phenotype"
[Term]
id: DI-05901
name: Ichthyosis, lamellar, autosomal dominant
def: "An autosomal dominant form of ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling. ADLI is characterized by onset at birth or within the first months of life, skin scaling on the entire body with relative sparing of face, anterior chest, and abdomen, and palmoplantar keratoderma. Patients may manifest mild erythema and moderate pruritus." []
synonym: "Lamellar ichthyosis, autosomal dominant" [UniProt]
xref: MedGen:C0432304
xref: MeSH:D007057
xref: MIM:146750 "phenotype"
[Term]
id: DI-05902
name: Pallister-Hall-like syndrome
def: "An autosomal recessive disorder characterized by a wide phenotypic spectrum of developmental anomalies affecting the brain, heart, skeleton and enteric nervous system. Clinical features include hypothalamic hamartoma, microcephaly, atrioventricular septal defect, postaxial polydactyly, narrow chest, shortening of long bones, and aganglionosis." []
synonym: "Hamartoma of hypothalamus" [UniProt]
synonym: "Hypothalamic hamartomas" [UniProt]
xref: MedGen:C0342418
xref: MeSH:D054975
xref: MIM:241800 "phenotype"
[Term]
id: DI-05903
name: Intellectual developmental disorder, X-linked, syndromic, Armfield type
def: "An X-linked recessive disorder characterized by global developmental delay with impaired intellectual development, walking difficulties and poor or absent speech. Affected individuals display a distinctive phenotype characterized by postnatal growth retardation, variable head circumference with a prominent forehead and dysmorphic facial features, ocular abnormalities, and seizures." []
xref: MedGen:C1846057
xref: MeSH:D038901
xref: MIM:300261 "phenotype"
[Term]
id: DI-05904
name: Immune dysregulation and systemic hyperinflammation syndrome
def: "An autosomal recessive disorder characterized by systemic hyperinflammation in the absence of an infectious agent or autoimmune trigger. Features include lymphadenopathy, hepatosplenomegaly, recurrent fever, and laboratory evidence of immune dysregulation with abnormal immune cell populations and increased serum levels of inflammatory cytokines." []
synonym: "FHL6" [UniProt]
synonym: "Hemophagocytic lymphohistiocytosis, familial, 6" [UniProt]
xref: MedGen:CN283343
xref: MeSH:D051359
xref: MIM:618998 "phenotype"
[Term]
id: DI-05905
name: Autoinflammation, immune dysregulation, and eosinophilia
def: "An autosomal dominant disorder characterized by immune dysregulation, severe atopic dermatitis, and chronic gastrointestinal inflammation. Additional features include asthma, food or environmental allergies, as well as poor overall growth with short stature." []
synonym: "Atopic dermatitis, enteritis, colitis, and eosinophilia" [UniProt]
xref: MedGen:CN283344
xref: MeSH:D005759
xref: MeSH:D056660
xref: MIM:618999 "phenotype"
[Term]
id: DI-05906
name: Intellectual developmental disorder with seizures and language delay
def: "An autosomal dominant neurodevelopmental disorder characterized by mild to profound intellectual development impairment, speech and language delay, and seizures. Autism and anxiety are common features. Facial dysmorphism, tapering fingers, and pigmentary skin changes may also be observed." []
xref: MedGen:CN283345
xref: MeSH:D065886
xref: MIM:619000 "phenotype"
[Term]
id: DI-05907
name: Mitochondrial complex I deficiency, nuclear type 35
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN35 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN283350
xref: MeSH:D028361
xref: MIM:619003 "phenotype"
[Term]
id: DI-05908
name: DEEAH syndrome
def: "An autosomal recessive disorder characterized by moderate to severe global developmental delay, impaired intellectual development, poor or absent speech, and endocrine, pancreatic exocrine and autonomic dysfunction, as well as hematologic abnormalities. Additional features include facial dysmorphism, seizures, undescended testes, and distal skeletal anomalies. Death in early childhood may occur." []
synonym: "Developmental delay with endocrine, exocrine, autonomic, and hematologic abnormalities" [UniProt]
xref: MedGen:CN283361
xref: MeSH:D000015
xref: MIM:619004 "phenotype"
[Term]
id: DI-05909
name: Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
def: "An autosomal recessive disorder characterized by global developmental delay, mildly to severely impaired intellectual development, poor speech and language acquisition. Some patients may have early normal development with onset of the disorder in the first years of life. More variable neurologic abnormalities include hypotonia, seizures, apnea, mild signs of autonomic or peripheral neuropathy, and autism." []
xref: MedGen:CN283362
xref: MeSH:D000015
xref: MIM:619005 "phenotype"
[Term]
id: DI-05910
name: Retinitis pigmentosa 90
def: "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP90 is an autosomal recessive form." []
xref: MedGen:CN283346
xref: MeSH:D012174
xref: MIM:619007 "phenotype"
[Term]
id: DI-05911
name: Oocyte/zygote/embryo maturation arrest 8
def: "An autosomal recessive infertility disorder due to failure of the fertilized ovum to undergo zygotic cleavage." []
synonym: "Oocyte maturation defect 8" [UniProt]
synonym: "OOMD8" [UniProt]
xref: MedGen:CN283352
xref: MeSH:D007247
xref: MIM:619009 "phenotype"
[Term]
id: DI-05912
name: Oocyte/zygote/embryo maturation arrest 9
def: "An autosomal recessive infertility disorder due to oocyte meiotic arrest at metaphase I. Abnormal zygotic cleavage has been observed in some patients." []
synonym: "Oocyte maturation defect 9" [UniProt]
synonym: "OOMD9" [UniProt]
xref: MedGen:CN283354
xref: MeSH:D007247
xref: MIM:619011 "phenotype"
[Term]
id: DI-05913
name: Combined oxidative phosphorylation deficiency 48
def: "An autosomal recessive, mitochondrial encephalomyopathy characterized by global developmental delay, microcephaly, failure to thrive, hypotonia, muscle weakness, external ophthalmoplegia, and seizures. Laboratory studies show metabolic acidosis, increased serum lactate, and combined oxidative phosphorylation deficiency in skeletal muscle." []
xref: MedGen:CN283360
xref: MeSH:D028361
xref: MIM:619012 "phenotype"
[Term]
id: DI-05914
name: Combined oxidative phosphorylation deficiency 49
def: "An autosomal recessive, mitochondrial myopathy characterized by progressive muscle weakness, intermittent muscle pain, exercise intolerance, elevated serum creatine kinase, and deficiencies of multiple respiratory chain enzymes." []
xref: MedGen:CN283408
xref: MeSH:D028361
xref: MIM:619024 "phenotype"
[Term]
id: DI-05915
name: Combined oxidative phosphorylation deficiency 50
def: "An autosomal recessive, mitochondrial encephalomyopathy characterized by intrauterine growth retardation, poor overall growth, delayed psychomotor development, hypotonia, muscle weakness, progressive loss of ambulation, and mitochondrial oxidative phosphorylation deficiency in patient tissues. Brain imaging shows partial agenesis of the corpus callosum." []
xref: MedGen:CN283409
xref: MeSH:D028361
xref: MIM:619025 "phenotype"
[Term]
id: DI-05916
name: Rajab interstitial lung disease with brain calcifications 2
def: "An autosomal recessive disorder characterized by interstitial lung disease, growth delay, hypotonia, liver disease, and brain abnormalities including diffuse, symmetrical brain calcifications and periventricular cysts." []
xref: MedGen:CN283355
xref: MeSH:D001927
xref: MeSH:D002114
xref: MeSH:D017563
xref: MIM:619013 "phenotype"
[Term]
id: DI-05917
name: IFAP syndrome 2
def: "An autosomal dominant form of IFAP syndrome, a disease characterized by a peculiar triad of follicular ichthyosis, total or subtotal atrichia, and photophobia of varying degree. IFAP2 patients manifest ichthyosis follicularis or follicular hyperkeratosis, hyperkeratotic plaques, sparse to no body hair, and photophobia with punctate corneal epithelial defects, corneal pannus, and complicated cataract. Ultrastructural hair analysis shows trichorrhexis nodosa." []
xref: MedGen:CN283356
xref: MeSH:D000505
xref: MeSH:D007057
xref: MeSH:D020795
xref: MIM:619016 "phenotype"
[Term]
id: DI-05918
name: Coenzyme Q10 deficiency, primary, 9
def: "A form of coenzyme Q10 deficiency, an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. COQ10D9 patients show cerebellar ataxia with cerebellar atrophy. Additional features include generalized tonic-clonic seizures, and cognitive disability. Disease onset is in the first decade of life." []
xref: MedGen:CN283411
xref: MeSH:D028361
xref: MIM:619028 "phenotype"
[Term]
id: DI-05919
name: Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies
def: "An autosomal recessive neurodevelopmental disorder that manifests in early infancy with infantile spasms and developmental delay. Clinical features include severely impaired intellectual development, epilepsy, autism, hyperactivity and other behavioral problems, and coarse facies. Brain MRI findings may include delayed myelination in the deep parietal lobes." []
xref: MedGen:CN283365
xref: MeSH:D065886
xref: MIM:619031 "phenotype"
[Term]
id: DI-05920
name: Vissers-Bodmer syndrome
def: "An autosomal dominant disorder characterized by global developmental delay, intellectual disability of varying degree, speech delay, motor delay, and hypotonia. Abnormal growth, and cerebral, skeletal, muscle and soft tissue abnormalities are frequently observed. Many patients have behavioral problems, including anxiety, obsessive compulsive disorder, autism spectrum disorder and attention deficit-hyperactivity disorder." []
xref: MedGen:CN283412
xref: MeSH:D065886
xref: MIM:619033 "phenotype"
[Term]
id: DI-05921
name: Optic atrophy 13 with retinal and foveal abnormalities
def: "An autosomal dominant disease characterized by visual impairment in association with bilateral optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. Many OPA13 patients also exhibit retinal pigmentary defects, attenuated retinal vasculature, macular dystrophy, and foveopathy. Some patients may develop additional systemic features, including sensorineural deafness and progressive nephropathy resulting in renal failure." []
xref: MedGen:C1833799
xref: MeSH:D015418
xref: MIM:165510 "phenotype"
[Term]
id: DI-05922
name: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
def: "An autosomal recessive neurodevelopmental disorder characterized by developmental delay manifesting in infancy, inability to walk independently, mild to severe intellectual disability, poor overall growth, progressive microcephaly, and axial hypotonia. Additional variable features include brainstem and cerebellar involvement, seizures, joint contractures, ocular disturbances, episodic respiratory failure, and facial dysmorphism." []
synonym: "Cerebral palsy, spastic quadriplegic, 1" [UniProt]
synonym: "CPSQ1" [UniProt]
xref: MedGen:CN283413
xref: MeSH:D065886
xref: MIM:619026 "phenotype"
[Term]
id: DI-05923
name: Spastic paraplegia 83, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG83 is characterized by juvenile onset of progressive lower limb spasticity resulting in gait instability." []
xref: MedGen:CN283414
xref: MeSH:D015419
xref: MIM:619027 "phenotype"
[Term]
id: DI-05924
name: Myopathy, epilepsy, and progressive cerebral atrophy
def: "An autosomal recessive disorder characterized by severe, early lethal neurodegeneration, myasthenic and myopathic features, progressive cerebral atrophy with myelination defects, and intractable epilepsy." []
xref: MedGen:CN292948
xref: MeSH:D065886
xref: MIM:619036 "phenotype"
[Term]
id: DI-05925
name: Myopathy, myofibrillar, 10
def: "A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM10 is an autosomal recessive disorder characterized by muscle pain, cramping, exercise fatigue, and progressive muscle rigidity." []
xref: MedGen:CN293343
xref: MeSH:D020914
xref: MIM:619040 "phenotype"
[Term]
id: DI-05926
name: Spinal muscular atrophy, infantile, James type
def: "An autosomal dominant form of spinal muscular atrophy, a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAJI is a severe disease characterized by hypotonia manifesting in the first weeks or months of life, delayed motor development, motor regression, and muscle weakness and atrophy primarily affecting distal muscles. Additional variable features include feeding difficulties, poor overall growth, foot deformities, kyphosis, hyperlordosis, scoliosis, vocal cord dysfunction, and respiratory insufficiency." []
xref: MedGen:CN293370
xref: MeSH:D009134
xref: MIM:619042 "phenotype"
[Term]
id: DI-05927
name: Spermatogenic failure 44
def: "An autosomal recessive infertility disorder caused by spermatogenesis defects and characterized by the presence of acephalic spermatozoa in the semen of affected individuals." []
xref: MedGen:CN293344
xref: MeSH:D007248
xref: MIM:619044 "phenotype"
[Term]
id: DI-05928
name: Mitochondrial complex IV deficiency, nuclear type 3
def: "An autosomal recessive mitochondrial disorder characterized by cytochrome c oxidase deficiency. Clinical features include muscle weakness, hypotonia, ataxia, ptosis, metabolic acidosis, poor feeding, delayed motor development, anemia, sensorineural hearing loss, and cardiomyopathy." []
xref: MedGen:CN293390
xref: MeSH:D017237
xref: MIM:619046 "phenotype"
[Term]
id: DI-05929
name: Mitochondrial complex IV deficiency, nuclear type 4
def: "An autosomal recessive mitochondrial disorder characterized by hypotonia, encephalopathy, metabolic acidosis, poor feeding, hepatomegaly, and hypertrophic cardiomyopathy in some patients. Death occurs in infancy. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV." []
xref: MedGen:CN293391
xref: MeSH:D017237
xref: MIM:619048 "phenotype"
[Term]
id: DI-05930
name: Mitochondrial complex IV deficiency, nuclear type 7
def: "An autosomal recessive mitochondrial disorder characterized by encephalomyopathy resulting in variable clinical manifestations. Features include muscle weakness, gait disturbances, neurodegeneration, cognitive decline, metabolic acidosis, feeding difficulties, poor overall growth, cortical visual impairment, and hypertrophic cardiomyopathy. Serum lactate levels are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV." []
xref: MedGen:CN293392
xref: MeSH:D017237
xref: MIM:619051 "phenotype"
[Term]
id: DI-05931
name: Mitochondrial complex IV deficiency, nuclear type 8
def: "An autosomal recessive mitochondrial disorder characterized by slowly progressive cognitive dysfunction, dystonia or visual impairment that appear after an uneventful early childhood. Additional features include gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability. Brain imaging shows white matter abnormalities in the basal ganglia. Serum lactate levels are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV." []
xref: MedGen:CN293393
xref: MeSH:D017237
xref: MIM:619052 "phenotype"
[Term]
id: DI-05932
name: Mitochondrial complex IV deficiency, nuclear type 10
def: "An autosomal recessive mitochondrial disorder that manifests with neonatal neurological and respiratory distress. Clinical features include facial dysmorphism, hypotelorism, microphthalmia, an ogival palate, and severe metabolic acidosis. Death occurs in early infancy. Autoptic examination reveals brain hypertrophy, diffuse alteration of white matter myelination, numerous cavities in the parieto-occipital region, brainstem and cerebellum, as well as hepatomegaly, hypertrophic cardiomyopathy, renal hypoplasia, and adrenal hyperplasia. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV." []
xref: MedGen:CN293394
xref: MeSH:D017237
xref: MIM:619053 "phenotype"
[Term]
id: DI-05933
name: Mitochondrial complex IV deficiency, nuclear type 11
def: "An autosomal recessive mitochondrial disorder with onset in childhood or adolescence. MC4DN11 is characterized by walking difficulties, cerebellar ataxia, dystonia, choreoathetotic movements and dysarthria. Additional features may include sensory axonal neuropathy, cerebellar atrophy, and mild speech delay. Cognitive function is normal. Serum lactate levels are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV." []
xref: MedGen:CN293395
xref: MeSH:D017237
xref: MIM:619054 "phenotype"
[Term]
id: DI-05934
name: Mitochondrial complex IV deficiency, nuclear type 12
def: "An autosomal recessive mitochondrial disorder with onset in early infancy. MC4DN12 features include poor overall growth, metabolic acidosis, profoundly delayed psychomotor development, seizures, hypotonia, and brain abnormalities. Death may occur in the first years of life. Serum lactate and creatine kinase levels are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV." []
xref: MedGen:CN293396
xref: MeSH:D017237
xref: MIM:619055 "phenotype"
[Term]
id: DI-05935
name: Mitochondrial complex IV deficiency, nuclear type 14
def: "An autosomal recessive mitochondrial disorder with onset in early childhood. MC4DN14 is characterized by developmental delay, cognitive impairment, motor delay, abnormal gait, sensorimotor demyelinating polyneuropathy, exercise intolerance, obesity, and short stature. Serum lactate levels are marginally increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV." []
xref: MedGen:CN293397
xref: MeSH:D017237
xref: MIM:619058 "phenotype"
[Term]
id: DI-05936
name: Mitochondrial complex IV deficiency, nuclear type 15
def: "An autosomal recessive mitochondrial disorder with onset in infancy. MC4DN15 is characterized by global developmental delay, poor feeding, metabolic acidosis, short stature, microcephaly, proximal muscle weakness, and distal spasticity. Additional manifestations include scoliosis, primary pulmonary hypertension, refractory seizures, and inability to walk. Serum and CSF lactate levels are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV." []
xref: MedGen:CN293384
xref: MeSH:D017237
xref: MIM:619059 "phenotype"
[Term]
id: DI-05937
name: Mitochondrial complex IV deficiency, nuclear type 16
def: "An autosomal recessive mitochondrial disorder with onset in infancy and variable manifestations. MC4DN16 features include feeding difficulties, poor overall growth, short stature, microcephaly, developmental regression, severe hypotonia, and seizures. Cerebral and cerebellar atrophy, and abnormal lesions in the basal ganglia can be observed on brain imaging. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV." []
xref: MedGen:CN293385
xref: MeSH:D017237
xref: MIM:619060 "phenotype"
[Term]
id: DI-05938
name: Mitochondrial complex IV deficiency, nuclear type 17
def: "An autosomal recessive mitochondrial disorder with highly variable clinical manifestations and severity. Clinical features vary from acute neurometabolic decompensation in late infancy to subtle neurological signs presenting in adolescence. Encephalopathic episodes are characterized by acute loss of developmental milestones including ability to walk or sit, loss of speech, episodes with somnolence and seizure, and pyramidal signs rapidly evolving into spastic tetraparesis. The clinical course subsequently tends to stabilize and in several subjects marked recovery of neurological milestones is observed over time. Brain imaging shows a cavitating leukodystrophy, predominantly involving the posterior cerebral white matter and the corpus callosum in the acute stage, after which the abnormalities partially improve and then stabilize. Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV." []
xref: MedGen:CN293386
xref: MeSH:D017237
xref: MIM:619061 "phenotype"
[Term]
id: DI-05939
name: Mitochondrial complex IV deficiency, nuclear type 18
def: "An autosomal recessive, muscle-specific, mitochondrial disorder with onset in infancy. MC4DN18 is characterized by hypotonia, limb and facial muscle weakness, and high arched palate. Some patients have respiratory insufficiency at birth and cardiomyopathy. Patient skeletal muscle shows decreased levels and activity of mitochondrial respiratory complex IV." []
xref: MedGen:CN293387
xref: MeSH:D017237
xref: MIM:619062 "phenotype"
[Term]
id: DI-05940
name: Mitochondrial complex IV deficiency, nuclear type 19
def: "An autosomal recessive mitochondrial disorder with onset in infancy or early childhood. MC4DN19 is characterized by global developmental delay, impaired intellectual development, developmental regression, loss of acquired motor and language skills, and motor dysfunction. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV." []
xref: MedGen:CN293388
xref: MeSH:D017237
xref: MIM:619063 "phenotype"
[Term]
id: DI-05941
name: Mitochondrial complex IV deficiency, nuclear type 20
def: "An autosomal recessive mitochondrial disorder with onset in early infancy. MC4DN20 is characterized by pulmonary arterial hypertension, poor feeding, failure to thrive, hypotonia, delayed development, increased serum lactate and metabolic acidosis. Death in infancy occurs due to cardiorespiratory failure. Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV." []
xref: MedGen:CN293389
xref: MeSH:D017237
xref: MIM:619064 "phenotype"
[Term]
id: DI-05942
name: Mitochondrial complex IV deficiency, nuclear type 21
def: "An autosomal recessive mitochondrial disorder with onset in infancy. MC4DN21 is characterized by congenital lactic acidosis, encephalopathy, global developmental delay, delayed speech, motor dysfunction, dystonia, and spasticity. Ataxia, peripheral neuropathy, and seizures may also occur. Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV." []
xref: MedGen:CN293398
xref: MeSH:D017237
xref: MIM:619065 "phenotype"
[Term]
id: DI-05943
name: Combined oxidative phosphorylation deficiency 51
def: "An autosomal recessive, mitochondrial disorder characterized by intrauterine growth retardation, low birth weight, poor overall growth, progressive limb rigidity, delayed psychomotor development, hearing loss, and optic atrophy. Brain imaging shows abnormal bilateral signs at the basal ganglia and brainstem. Patient cells show decreased mitochondrial complex I and IV levels and activities, and generalized mitochondrial translation defects." []
xref: MedGen:CN293374
xref: MeSH:D028361
xref: MIM:619057 "phenotype"
[Term]
id: DI-05944
name: Neurodevelopmental disorder with speech impairment and dysmorphic facies
def: "An autosomal dominant disorder characterized by global developmental delay, intellectual disability, speech delay, subtle facial dysmorphism, and behavioral and psychiatric problems." []
xref: MedGen:CN293373
xref: MeSH:D065886
xref: MIM:619056 "phenotype"
[Term]
id: DI-05945
name: Bachmann-Bupp syndrome
def: "An autosomal dominant disorder characterized by global developmental delay, alopecia, absolute or relative macrocephaly, and facial dysmorphism. Neuroimaging shows white matter abnormalities, prominent Virchow-Robin spaces, periventricular cysts, and abnormalities of the corpus callosum." []
synonym: "NEDABA" [UniProt]
synonym: "Neurodevelopmental disorder with alopecia and brain abnormalities" [UniProt]
xref: MedGen:CN295154
xref: MeSH:D065886
xref: MIM:619075 "phenotype"
[Term]
id: DI-05946
name: Vitamin D-dependent rickets 3
def: "An autosomal dominant disorder of vitamin D metabolism resulting in early-onset rickets, reduced serum levels of the vitamin D metabolites 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D, and deficient responsiveness to parent and activated forms of vitamin D." []
synonym: "Vitamin D-dependent rickets, type 3" [UniProt]
xref: MedGen:CN293406
xref: MeSH:D012279
xref: MIM:619073 "phenotype"
[Term]
id: DI-05947
name: Cleft palate, proliferative retinopathy, and developmental delay
def: "An autosomal recessive disorder characterized by mild to severe intellectual disability with delayed or absent speech, hypotonia, cleft palate, proliferative retinopathy, and combined sensorineural and conductive hearing loss. Brain imaging shows ventriculomegaly, widened subarachnoid spaces, partial agenesis of the corpus callosum, hypoplastic cerebellar vermis, and Dandy Walker malformation." []
xref: MedGen:CN293411
xref: MeSH:D002972
xref: MIM:619074 "phenotype"
[Term]
id: DI-05948
name: Mucoepithelial dysplasia, hereditary
def: "An autosomal dominant genodermatosis mainly characterized by chronic mucosal lesions associated with keratitis, non-scarring alopecia, keratosis pilaris and perineal intertrigo." []
xref: MedGen:C1274795
xref: MeSH:D000505
xref: MeSH:D007642
xref: MeSH:D012868
xref: MIM:158310 "phenotype"
[Term]
id: DI-05949
name: Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
def: "An autosomal dominant disorder characterized by decreased vision associated with optic nerve edema, evident in childhood. Low-grade ocular inflammation is common in affected individuals. Later in childhood or the second decade of life, patients have increasing visual impairment, abnormal cone function and loss of rod function. By the third decade of life, visual acuity ranges from counting fingers to no light perception. Patients also show anhidrosis, splenomegaly, mild pancytopenia, and most experience headaches that may be migraine- like in nature." []
synonym: "Splenomegaly, cytopenia, and vision loss" [UniProt]
xref: MedGen:C3554278
xref: MeSH:D007007
xref: MeSH:D013163
xref: MeSH:D058499
xref: MIM:614979 "phenotype"
[Term]
id: DI-05950
name: Mitochondrial complex IV deficiency, nuclear type 1
def: "An autosomal recessive disorder of the mitochondrial respiratory chain characterized by early-onset, rapidly progressive encephalopathy, neurodegeneration, and loss of motor and cognitive skills. Affected individuals show hypotonia, failure to thrive, loss of the ability to sit or walk, poor communication, poor eye contact, oculomotor abnormalities, as well as deafness, ataxia, tremor, and brisk tendon reflexes. Brain imaging shows bilateral symmetric lesions in the basal ganglia. Lactate levels in serum and cerebrospinal fluid are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. Death in childhood may occur, often due to central respiratory failure." []
xref: MedGen:C0268237
xref: MeSH:D030401
xref: MIM:220110 "phenotype"
[Term]
id: DI-05951
name: Leukodystrophy, hypomyelinating, 20
def: "An autosomal recessive disorder characterized by neuroregression and loss of motor, language and cognitive skills, after a normal early development. Disease onset is between 12 and 18 month of age. Patients show poor overall growth, microcephaly, feeding difficulties and spastic quadriplegia. Some patients may have seizures. Death in childhood may occur. Hypomyelinating leukodystrophy with subcortical and periventricular white matter abnormalities is seen on brain imaging." []
xref: MedGen:CN293420
xref: MeSH:D020279
xref: MIM:619071 "phenotype"
[Term]
id: DI-05952
name: Neurodevelopmental disorder with seizures and brain atrophy
def: "An autosomal recessive disorder characterized by brain atrophy, seizures, and developmental delay. Disease severity is variable. Severely affected individuals develop symptoms in utero, which may lead to spontaneous abortion. Patients at the mildest end of the phenotypic spectrum have onset of seizures later in childhood and show developmental delay with mildly impaired intellectual development and minimal brain atrophy." []
xref: MedGen:CN293421
xref: MeSH:D065886
xref: MIM:619072 "phenotype"
[Term]
id: DI-05953
name: Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy
def: "An autosomal recessive neurodevelopmental disorder characterized by severe global developmental delay, developmental regression with loss of milestones, severe microcephaly, and brain abnormalities, primarily cerebral atrophy and hypoplasia of the corpus callosum. Affected individuals develop seizures in the first year of life. Death in childhood may occur." []
xref: MedGen:CN293422
xref: MeSH:D065886
xref: MIM:619076 "phenotype"
[Term]
id: DI-05954
name: Inflammatory bowel disease 30
def: "A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology and a multifactorial inheritance pattern. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints." []
xref: MedGen:CN293414
xref: MeSH:D015212
xref: MIM:619079 "phenotype"
[Term]
id: DI-05955
name: VEXAS syndrome
def: "A sporadic, often fatal, treatment-refractory inflammatory syndrome that develops in late adulthood. Clinical features include fevers, cytopenias, characteristic vacuoles in myeloid and erythroid precursor cells, dysplastic bone marrow, neutrophilic cutaneous and pulmonary inflammation, chondritis, and vasculitis. The disease affects only males and is associated with de novo somatic mutations." []
synonym: "Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic" [UniProt]
synonym: "VEXAS syndrome, somatic" [UniProt]
xref: MedGen:CN293453
xref: MeSH:D007249
xref: MIM:301054 "phenotype"
[Term]
id: DI-05956
name: Kilquist syndrome
def: "An autosomal recessive, multisystem disorder characterized by severe global developmental delay, sensorineural hearing loss, poor overall growth, mild facial dysmorphism, gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, and a striking lack of tear fluid, saliva, and sweat." []
xref: MedGen:CN293532
xref: MeSH:D000015
xref: MeSH:D006319
xref: MeSH:D008607
xref: MIM:619080 "phenotype"
[Term]
id: DI-05957
name: Deafness, autosomal dominant, 78
def: "A form of non-syndromic deafness characterized by congenital, profound bilateral sensorineural hearing loss affecting all frequencies. Some patients may have mild motor delay early in life due to vestibular dysfunction. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN293443
xref: MeSH:D034381
xref: MIM:619081 "phenotype"
[Term]
id: DI-05958
name: Deafness, autosomal dominant, 79
def: "A form of non-syndromic, progressive sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA79 affected females appear to have milder hearing loss than males." []
xref: MedGen:CN293445
xref: MeSH:D034381
xref: MIM:619086 "phenotype"
[Term]
id: DI-05959
name: Delpire-McNeill syndrome
def: "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, hypotonia with delayed or absent walking, bilateral sensorineural deafness, poor or absent speech, and mild to severe intellectual disability. Additional variable features may include spasticity or minor involvement of other organ systems, such as hip dislocation or ventricular septal defect." []
xref: MedGen:CN293444
xref: MeSH:D065886
xref: MIM:619083 "phenotype"
[Term]
id: DI-05960
name: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1
def: "An autosomal dominant ocular disorder characterized by poor visual acuity in early childhood, due to congenital cataract and microcornea followed by rod-cone dystrophy, with later development of posterior staphyloma." []
xref: MedGen:CN293415
xref: MeSH:D058499
xref: MIM:619082 "phenotype"
[Term]
id: DI-05961
name: Noonan syndrome 13
def: "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS13 inheritance is autosomal dominant. There is considerable variability in severity." []
xref: MedGen:CN293446
xref: MeSH:D009634
xref: MIM:619087 "phenotype"
[Term]
id: DI-05962
name: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
def: "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay apparent in infancy, moderate to profound intellectual disability, poor or absent speech and language, delayed walking with variable gait abnormalities, and progressive microcephaly. Additional variable features include hypotonia, early- onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy." []
xref: MedGen:CN293519
xref: MeSH:D065886
xref: MIM:619091 "phenotype"
[Term]
id: DI-05963
name: Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
def: "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay apparent in infancy, delayed walking, ataxia, spasticity, impaired intellectual development with poor or absent speech and language, progressive microcephaly, and early-onset seizures in most patients. Facial dysmorphism and a demyelinating peripheral neuropathy may also be observed." []
xref: MedGen:CN293520
xref: MeSH:D065886
xref: MIM:619092 "phenotype"
[Term]
id: DI-05964
name: Deafness, autosomal recessive, 116
def: "A form of non-syndromic deafness characterized by slowly progressive, moderate to profound sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN293454
xref: MeSH:D006319
xref: MIM:619093 "phenotype"
[Term]
id: DI-05965
name: Spermatogenic failure 45
def: "An autosomal recessive infertility disorder caused by spermatogenesis defects resulting in severe teratozoospermia. SPGF45 is characterized by multiple morphologic abnormalities of spermatozoa flagella. Some spermatozoa also show abnormalities of the head." []
xref: MedGen:CN293455
xref: MeSH:D007248
xref: MIM:619094 "phenotype"
[Term]
id: DI-05966
name: Spermatogenic failure 46
def: "An autosomal recessive infertility disorder caused by spermatogenesis defects resulting in asthenoteratozoospermia. SPGF46 is characterized by multiple morphologic abnormalities of sperm flagella with disorganization of axonemal and periaxonemal structures. Flagella are absent, short, coiled, angulated, and/or of irregular caliber." []
xref: MedGen:CN293456
xref: MeSH:D007248
xref: MIM:619095 "phenotype"
[Term]
id: DI-05967
name: Spermatogenic failure 47
def: "An autosomal recessive infertility disorder caused by spermatogenesis defects resulting in asthenoteratozoospermia. SPGF47 is characterized by reduced sperm concentrations and immotile spermatozoa, with short or absent flagella as well as centriolar abnormalities." []
xref: MedGen:CN293511
xref: MeSH:D007248
xref: MIM:619102 "phenotype"
[Term]
id: DI-05968
name: Spermatogenic failure 48
def: "An autosomal recessive infertility disorder caused by spermatogenesis defects resulting in non-obstructive azoospermia." []
xref: MedGen:CN293534
xref: MeSH:D007248
xref: MIM:619108 "phenotype"
[Term]
id: DI-05969
name: Mismatch repair cancer syndrome 2
def: "An autosomal recessive form of mismatch repair cancer syndrome, a childhood cancer predisposition syndrome encompassing a broad tumor spectrum. This includes hematological malignancies, central nervous system tumors, Lynch syndrome-associated malignancies such as colorectal tumors as well as multiple intestinal polyps, embryonic tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature reminiscent of neurofibromatosis type 1, are often found as first manifestation of the underlying cancer." []
xref: MedGen:CN293538
xref: MeSH:D009386
xref: MIM:619096 "phenotype"
[Term]
id: DI-05970
name: Mismatch repair cancer syndrome 3
def: "An autosomal recessive form of mismatch repair cancer syndrome, a childhood cancer predisposition syndrome encompassing a broad tumor spectrum. This includes hematological malignancies, central nervous system tumors, Lynch syndrome-associated malignancies such as colorectal tumors as well as multiple intestinal polyps, embryonic tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature reminiscent of neurofibromatosis type 1, are often found as first manifestation of the underlying cancer." []
xref: MedGen:CN293539
xref: MeSH:D009386
xref: MIM:619097 "phenotype"
[Term]
id: DI-05971
name: Mismatch repair cancer syndrome 4
def: "An autosomal recessive form of mismatch repair cancer syndrome, a childhood cancer predisposition syndrome encompassing a broad tumor spectrum. This includes hematological malignancies, central nervous system tumors, Lynch syndrome-associated malignancies such as colorectal tumors as well as multiple intestinal polyps, embryonic tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature reminiscent of neurofibromatosis type 1, are often found as first manifestation of the underlying cancer." []
xref: MedGen:CN293540
xref: MeSH:D009386
xref: MIM:619101 "phenotype"
[Term]
id: DI-05972
name: Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
def: "An autosomal recessive disorder characterized by mild global developmental delay, mild to moderate intellectual disability, motor impairment, unsteady or ataxic gait, and severe speech delay apparent in the first years of life. Signs of a peripheral axonal neuropathy, including progressive distal muscle weakness and atrophy of the lower limbs, foot and hand deformities, and dysarthria, are observed in most patients. Some patients may have autistic features or attention deficit-hyperactivity disorder." []
xref: MedGen:CN293533
xref: MeSH:D065886
xref: MIM:619099 "phenotype"
[Term]
id: DI-05973
name: Mitral valve prolapse 3
def: "An autosomal dominant form of mitral valve prolapse, a valvular heart disease characterized by abnormally elongated and thickened mitral valve leaflets, that typically show myxomatous degeneration with increased leaflet compliance. It is associated with mitral regurgitation. Myxomatous mitral valves have an abnormal layered architecture characterized by loose collagen in fibrosa, expanded spongiosa strongly positive for proteoglycans, and disrupted elastin in atrialis. In classic mitral valve prolapse, leaflets are at least 5 mm thick, whereas in the non-classic form, they are less than 5 mm thick. Severe classic mitral valve prolapse is strongly associated with arrhythmias, endocarditis, heart failure, and need for valve surgery." []
synonym: "Mitral valve prolapse, myxomatous 3" [UniProt]
synonym: "MMVP3" [UniProt]
synonym: "Myxomatous mitral valve prolapse 3" [UniProt]
xref: MedGen:C1835814
xref: MeSH:D008945
xref: MIM:610840 "phenotype"
[Term]
id: DI-05974
name: Premature ovarian failure 17
def: "A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF17 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN293617
xref: MeSH:D016649
xref: MIM:619146 "phenotype"
[Term]
id: DI-05975
name: Focal segmental glomerulosclerosis 10
def: "An autosomal dominant form of focal segmental glomerulosclerosis, a renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation." []
synonym: "Glomerular basement membrane disease, nail-patella syndrome type" [UniProt]
synonym: "Nail-patella-like renal disease" [UniProt]
synonym: "NPLRD" [UniProt]
xref: MedGen:C0403548
xref: MeSH:D005923
xref: MIM:256020 "phenotype"
[Term]
id: DI-05976
name: Spermatogenic failure 49
def: "An autosomal recessive infertility disorder characterized by asthenoteratozoospermia and multiple morphologic abnormalities of the sperm flagella, primarily coiled and short flagella, with markedly reduced or absent motility." []
xref: MedGen:CN293615
xref: MeSH:D007248
xref: MIM:619144 "phenotype"
[Term]
id: DI-05977
name: Spermatogenic failure 50
def: "An autosomal recessive infertility disorder characterized by azoospermia due to meiotic arrest at the zygotene stage of prophase I." []
xref: MedGen:CN293616
xref: MeSH:D007248
xref: MIM:619145 "phenotype"
[Term]
id: DI-05978
name: COACH syndrome 2
def: "A form of COACH syndrome, a disorder characterized by cerebellar vermis hypoplasia, developmental delay, impaired intellectual development, ataxia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. COACH2 inheritance is autosomal recessive." []
xref: MedGen:CN293566
xref: MeSH:D001259
xref: MeSH:D002526
xref: MeSH:D003103
xref: MeSH:D008107
xref: MIM:619111 "phenotype"
[Term]
id: DI-05979
name: COACH syndrome 3
def: "A form of COACH syndrome, a disorder characterized by cerebellar vermis hypoplasia, developmental delay, impaired intellectual development, ataxia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. COACH3 inheritance is autosomal recessive." []
xref: MedGen:CN293567
xref: MeSH:D001259
xref: MeSH:D002526
xref: MeSH:D003103
xref: MeSH:D008107
xref: MIM:619113 "phenotype"
[Term]
id: DI-05980
name: Arthrogryposis, distal, 1C
def: "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA1C patients show multiple congenital contractures, scoliosis, short stature, and segmental amyoplasia. DA1C inheritance can be autosomal recessive or autosomal dominant." []
synonym: "Arthrogryposis, distal, type 1C" [UniProt]
xref: MedGen:CN293563
xref: MeSH:D001176
xref: MIM:619110 "phenotype"
[Term]
id: DI-05981
name: Monosomy 7 myelodysplasia and leukemia syndrome 1
def: "A hematologic disorder characterized by bone marrow dyspoiesis and pancytopenia manifesting in early childhood, associated with monosomy 7 in the bone marrow. Disease severity ranges from transient thrombocytopenia or anemia, or normal peripheral blood counts with transient bone marrow abnormalities or transient monosomy 7, to frank myelodysplastic syndrome or acute myelogenous leukemia. M7MLS1 inheritance is autosomal dominant with incomplete penetrance and variable expressivity." []
synonym: "Chromosome 7q deletion" [UniProt]
synonym: "Familial mosaic monosomy 7 syndrome" [UniProt]
synonym: "MLSM7" [UniProt]
synonym: "Monosomy of bone marrow" [UniProt]
xref: MedGen:C1854978
xref: MeSH:D009190
xref: MeSH:D010198
xref: MIM:252270 "phenotype"
[Term]
id: DI-05982
name: Monosomy 7 myelodysplasia and leukemia syndrome 2
def: "A hematologic disorder manifesting in early childhood and characterized by bone marrow dyspoiesis, pancytopenia, myelodysplastic syndrome or acute myelogenous leukemia, associated with monosomy 7 in the bone marrow. Disease severity is highly variable. Inheritance is autosomal dominant with incomplete penetrance." []
xref: MedGen:CN293581
xref: MeSH:D009190
xref: MeSH:D010198
xref: MIM:619041 "phenotype"
[Term]
id: DI-05983
name: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
def: "A neurodevelopmental disorder characterized by severe global developmental delay, intellectual disability, poor or absent language, behavioral abnormalities, severe sleep disturbance, seizures, cerebral malformations, and craniofacial dysmorphism. Progressive cerebellar atrophy is also observed. Additional features may include genitourinary tract anomalies, hearing loss, and mild distal skeletal defects." []
xref: MedGen:CN293573
xref: MeSH:D065886
xref: MIM:619103 "phenotype"
[Term]
id: DI-05984
name: Neuronopathy, distal hereditary motor, autosomal dominant 13
def: "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. HMND13 is characterized by distal muscular atrophy primarily affecting the upper limbs. Lower limb involvement may occur at the same time or later. Clinical features are highly variable even within families, and include poor fine hand motor skills, difficulty walking, foot deformities, spasticity and hyperreflexia. Some HMND13 patients show axonal peripheral neuropathy and distal sensory impairment. HMND13 inheritance is autosomal dominant with incomplete penetrance." []
synonym: "DHMN5C" [UniProt]
synonym: "Distal hereditary motor neuronopathy type VC" [UniProt]
synonym: "Distal spinal muscular atrophy type 5C" [UniProt]
synonym: "DSMA5C" [UniProt]
synonym: "DSMAVC" [UniProt]
synonym: "HMN5C" [UniProt]
synonym: "Neuronopathy, distal hereditary motor, 5C" [UniProt]
synonym: "Neuronopathy, distal hereditary motor, type VC" [UniProt]
synonym: "Spinal muscular atrophy, distal, type 5C" [UniProt]
synonym: "Spinal muscular atrophy, distal, type VC" [UniProt]
xref: MedGen:C5436838
xref: MeSH:D009134
xref: MIM:619112 "phenotype"
[Term]
id: DI-05985
name: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
def: "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, moderate to severe intellectual disability, spastic paraparesis, ataxia, and/or peripheral neuropathy. Patients also exhibit dysmorphic features and congenital microcephaly. Most affected individuals develop progressive hypertrophic cardiomyopathy in childhood or have cardiac developmental anomalies. Brain imaging shows corpus callosum abnormalities in all patients, and perisylvian polymicrogyria-like pattern in some individuals." []
xref: MedGen:CN293584
xref: MeSH:D065886
xref: MIM:619121 "phenotype"
[Term]
id: DI-05986
name: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
def: "An autosomal dominant connective tissue disorder characterized by osteopenia, bone fragility, long bone fractures, blue sclerae, joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, and vascular fragility." []
xref: MedGen:CN248508
xref: MeSH:D004535
xref: MeSH:D010013
xref: MIM:619115 "phenotype"
[Term]
id: DI-05987
name: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
def: "An autosomal dominant connective tissue disorder characterized by osteopenia, bone fragility, long bone fractures, blue sclerae, joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, and vascular fragility." []
xref: MedGen:CN293583
xref: MeSH:D004535
xref: MeSH:D010013
xref: MIM:619120 "phenotype"
[Term]
id: DI-05988
name: Vertebral hypersegmentation and orofacial anomalies
def: "An autosomal dominant disease characterized by supernumerary ribs, supernumerary cervical, thoracic and/or lumbar vertebrae, and orofacial anomalies such as cleft lip with or without cleft palate in most patients." []
xref: MedGen:CN293577
xref: MeSH:D002971
xref: MeSH:D002972
xref: MeSH:D013122
xref: MIM:619122 "phenotype"
[Term]
id: DI-05989
name: Cardiofacioneurodevelopmental syndrome
def: "An autosomal recessive disorder characterized by global developmental delay, feeding difficulties, microcephaly and dysmorphic features. Additional features include cleft lip, cleft palate, variable cardiac defects, and abdominal situs inversus with asplenia. Brain imaging reveals cerebellar hypoplasia." []
xref: MedGen:CN293580
xref: MeSH:D000015
xref: MIM:619123 "phenotype"
[Term]
id: DI-05990
name: Developmental and epileptic encephalopathy 89
def: "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE89 is an autosomal recessive severe form characterized by profound global developmental delay with impaired intellectual development, absent speech, inability to sit or walk due to axial hypotonia and spastic quadriparesis, and onset of seizures in the first days or months of life." []
xref: MedGen:CN293592
xref: MeSH:D013036
xref: MIM:619124 "phenotype"
[Term]
id: DI-05991
name: Kaya-Barakat-Masson syndrome
def: "An autosomal recessive neurodevelopmental disorder characterized by impaired intellectual development, absent speech, hypotonia, profound developmental and motor delay with dystonia, poor coordination and spasticity, and visual deficits with brain MRI evidence of ventricle enlargement, myelination alterations and cerebellar atrophy." []
xref: MedGen:CN293591
xref: MeSH:D065886
xref: MIM:619125 "phenotype"
[Term]
id: DI-05992
name: Immunodeficiency 75 with lymphoproliferation
def: "An autosomal recessive immunologic disorder characterized by recurrent infections, mainly viral and affecting the respiratory tract, immunodeficieny, immune dysregulation, and the development of lymphoproliferative disorders, including lymphoma." []
xref: MedGen:CN293597
xref: MeSH:D007153
xref: MIM:619126 "phenotype"
[Term]
id: DI-05993
name: Mandibuloacral dysplasia progeroid syndrome
def: "A form of mandibuloacral dysplasia, a rare progeroid disorder with clinical and genetic heterogeneity, characterized by growth retardation, craniofacial dysmorphic features due to distal bone resorption, musculoskeletal and skin abnormalities associated with lipodystrophy. MDPS is an autosomal recessive disorder. Clinical features include poor growth, osteoporosis, osteopenia, acroosteolysis of distal phalanges, arterial calcification, renal glomerulosclerosis and severe hypertension." []
xref: MedGen:CN293587
xref: MeSH:D008060
xref: MeSH:D019588
xref: MeSH:D030981
xref: MIM:619127 "phenotype"
[Term]
id: DI-05994
name: Thrombocytopenia 7
def: "A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC7 is an autosomal dominant form with highly variable severity, ranging from absence of bleeding symptoms to epistaxis or more severe bleeding episodes." []
synonym: "Thrombocytopenia, autosomal dominant, 7" [UniProt]
xref: MedGen:CN293599
xref: MeSH:D013921
xref: MIM:619130 "phenotype"
[Term]
id: DI-05995
name: Osteogenesis imperfecta 21
def: "An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI21 is a progressively deforming form characterized by multiple fractures appearing at birth or early childhood." []
synonym: "Osteogenesis imperfecta, type XXI" [UniProt]
xref: MedGen:CN293593
xref: MeSH:D010013
xref: MIM:619131 "phenotype"
[Term]
id: DI-05996
name: Ritscher-Schinzel syndrome 3
def: "A form of Ritscher-Schinzel syndrome, a developmental malformation syndrome characterized by cerebellar brain malformations, congenital heart defects, and craniofacial abnormalities. RTSC3 is an autosomal recessive form. Affected individuals show cranio-cerebello-cardiac anomalies, coloboma, microphthalmia, chondrodysplasia punctata, complicated skeletal malformations, periventricular nodular heterotopia and proteinuria." []
xref: MedGen:CN293598
xref: MeSH:D003616
xref: MeSH:D006344
xref: MeSH:D019465
xref: MIM:619135 "phenotype"
[Term]
id: DI-05997
name: Cardioacrofacial dysplasia 1
def: "An autosomal dominant disease characterized by dysmorphic facial features, congenital cardiac defects, primarily common atrium or atrioventricular septal defect, and limb anomalies, including short limbs, brachydactyly and postaxial polydactyly." []
xref: MedGen:CN293613
xref: MeSH:D006330
xref: MeSH:D017880
xref: MIM:619142 "phenotype"
[Term]
id: DI-05998
name: Cardioacrofacial dysplasia 2
def: "An autosomal dominant disease characterized by dysmorphic facial features, congenital cardiac defects, primarily common atrium or atrioventricular septal defect, and limb anomalies, including short limbs, brachydactyly and postaxial polydactyly. CAFD2 patients may show developmental delay of variable severity, intellectual disability, autistic features and focal seizures." []
xref: MedGen:CN293614
xref: MeSH:D006330
xref: MeSH:D017880
xref: MIM:619143 "phenotype"
[Term]
id: DI-05999
name: Nivelon-Nivelon-Mabille syndrome
def: "An autosomal recessive syndrome characterized by progressive microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia. Additional variable features include early infantile-onset seizures, intrauterine and postnatal growth retardation, generalized chondrodysplasia, and micromelia. 46,XY gonadal dysgenesis may be present." []
synonym: "Chondrodysplasia-pseudohermaphroditism syndrome" [UniProt]
xref: MedGen:C1838654
xref: MeSH:D010009
xref: MeSH:D058490
xref: MIM:600092 "phenotype"
[Term]
id: DI-06000
name: Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
def: "A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. FTDALS8 is an autosomal dominant form." []
xref: MedGen:CN293619
xref: MeSH:D000690
xref: MeSH:D057174
xref: MIM:619132 "phenotype"
[Term]
id: DI-06001
name: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
def: "A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. FTDALS5 is an autosomal dominant form with age-dependent penetrance. Penetrance is estimated to be 50% by age 56 and 100% by age 61." []
xref: MedGen:CN293621
xref: MeSH:D000690
xref: MeSH:D057174
xref: MIM:619141 "phenotype"
[Term]
id: DI-06002
name: Amyotrophic lateral sclerosis 26, with or without frontotemporal dementia
def: "A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS26 inheritance is autosomal dominant. Some patients may develop frontotemporal dementia." []
xref: MedGen:CN293620
xref: MeSH:D000690
xref: MIM:619133 "phenotype"
[Term]
id: DI-06003
name: Carpal tunnel syndrome 2
def: "An autosomal dominant form of carpal tunnel syndrome, a condition characterized by entrapment of the median nerve within the carpal tunnel. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. This condition may be associated with repetitive occupational trauma, wrist injuries, amyloid neuropathies, rheumatoid arthritis." []
xref: MedGen:CN293659
xref: MeSH:D002349
xref: MIM:619161 "phenotype"
[Term]
id: DI-06004
name: Hermansky-Pudlak syndrome 11
def: "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS." []
xref: MedGen:CN295243
xref: MeSH:D022861
xref: MIM:619172 "phenotype"
[Term]
id: DI-06005
name: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
def: "An autosomal dominant disease characterized by developmental delay, intellectual disability, hypotonia, poor growth, short stature, microcephaly, and variable craniofacial dysmorphism. Patients often present weakness, hyporeflexia, and electrophysiologic abnormalities consistent with an axonal sensorimotor peripheral neuropathy. Additional features may include hearing loss, pigmentary retinopathy, and abnormalities on brain imaging, including cerebral or cerebellar atrophy, hypomyelination, and lesions in the basal ganglia or brainstem. Disease severity is highly variable." []
xref: MedGen:CN293638
xref: MeSH:D000015
xref: MIM:619090 "phenotype"
[Term]
id: DI-06006
name: Lessel-Kreienkamp syndrome
def: "An autosomal dominant disorder characterized by global developmental delay, intellectual disability of variable degree, and speech and language delay apparent from infancy or early childhood. Behavioral disorders are observed in most patients. Additional variable features include seizures, hypotonia, gait abnormalities, visual and cardiac defects, and non-specific facial dysmorphism." []
xref: MedGen:CN294831
xref: MeSH:D065886
xref: MIM:619149 "phenotype"
[Term]
id: DI-06007
name: Intellectual developmental disorder with paroxysmal dyskinesia or seizures
def: "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, language delay, and early- onset paroxysmal hyperkinetic movement disorder that manifests as sudden falls or backward propulsion, eye or head deviation, and dystonic limb posturing followed by chorea and dyskinetic movements. Some patients may also develop epileptic seizures or only have seizures without a movement disorder." []
xref: MedGen:CN295212
xref: MeSH:D065886
xref: MIM:619150 "phenotype"
[Term]
id: DI-06008
name: AMED syndrome, digenic
def: "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. AMEDS is an autosomal recessive, digenic form characterized by childhood onset of bone marrow failure resulting in aplastic anemia, in association with global developmental delay, intellectual disability, and poor overall growth with short stature." []
synonym: "ADDS" [UniProt]
synonym: "Aldehyde degradation deficiency syndrome" [UniProt]
synonym: "BMFS7" [UniProt]
synonym: "Bone marrow failure syndrome 7, digenic" [UniProt]
xref: MedGen:CN295213
xref: MeSH:D000080983
xref: MIM:619151 "phenotype"
[Term]
id: DI-06009
name: Nephrotic syndrome 22
def: "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS22 is an autosomal recessive, steroid-resistant form characterized by onset of progressive kidney dysfunction in infancy." []
xref: MedGen:CN295220
xref: MeSH:D009404
xref: MIM:619155 "phenotype"
[Term]
id: DI-06010
name: Neurodevelopmental disorder with or without early-onset generalized epilepsy
def: "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development, speech delay, and behavioral abnormalities including autism or autistic features, attention deficits and hyperactivity, or aggressive behavior. About half of patients develop early-onset generalized epilepsy with different seizure types. The disease is apparent from infancy or early childhood." []
xref: MedGen:CN295223
xref: MeSH:D065886
xref: MIM:619157 "phenotype"
[Term]
id: DI-06011
name: Albinism, oculocutaneous, 8
def: "A form of oculocutaneous albinism, a disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. OCA8 is an autosomal recessive form characterized by mild hair and skin hypopigmentation, associated with ocular features including nystagmus, reduced visual acuity, iris transillumination, and hypopigmentation of the retina." []
synonym: "Oculocutaneous albinism, type VIII" [UniProt]
xref: MedGen:CN295224
xref: MeSH:D016115
xref: MIM:619165 "phenotype"
[Term]
id: DI-06012
name: Leber hereditary optic neuropathy, modifier
def: "A form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Leber hereditary optic neuropathy is maternally inherited in most case and results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. Mutations in modifier genes can influence disease expression. LOAM exhibits increased penetrance and earlier age of onset compared to Leber optic atrophy caused by MTND4 primary mutations, due to the action of mutations in PRICKLE3 as a modifier gene." []
synonym: "Leber hereditary optic neuropathy susceptibility" [UniProt]
synonym: "Leber hereditary optic neuropathy, modifier of" [UniProt]
synonym: "LOAS" [UniProt]
synonym: "Modifier of Leber hereditary optic neuropathy" [UniProt]
xref: MedGen:C1839891
xref: MeSH:D029242
xref: MIM:308905 "phenotype"
[Term]
id: DI-06013
name: Chorioretinal atrophy, progressive bifocal
def: "An autosomal dominant, progressive chorioretinal dystrophy characterized by atrophic macular and nasal retinal lesions evident soon after birth, nystagmus, myopia, and poor vision. Retinal detachment is observed in some patients." []
synonym: "Progressive bifocal chorioretinal atrophy" [UniProt]
xref: MedGen:C1833321
xref: MeSH:D012164
xref: MIM:600790 "phenotype"
[Term]
id: DI-06014
name: Mitochondrial complex II deficiency, nuclear type 2
def: "A form of mitochondrial complex II deficiency, a disorder with heterogeneous clinical manifestations. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre syndrome. MC2DN2 inheritance is autosomal recessive." []
xref: MedGen:CN295237
xref: MeSH:D028361
xref: MIM:619166 "phenotype"
[Term]
id: DI-06015
name: Mitochondrial complex II deficiency, nuclear type 3
def: "A form of mitochondrial complex II deficiency, a disorder with heterogeneous clinical manifestations. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre syndrome. MC2DN3 inheritance is autosomal recessive." []
xref: MedGen:CN295238
xref: MeSH:D028361
xref: MIM:619167 "phenotype"
[Term]
id: DI-06016
name: Mitochondrial complex I deficiency, nuclear type 36
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN36 is characterized by global developmental delay, hypotonia, and failure to thrive apparent from infancy or early childhood. Affected individuals usually do not acquire ambulation, show progressive spasticity, and have impaired intellectual development with absent speech. MC1DN36 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN295239
xref: MeSH:D028361
xref: MIM:619170 "phenotype"
[Term]
id: DI-06017
name: Intellectual developmental disorder, X-linked 50
def: "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations." []
synonym: "MRX50" [UniProt]
xref: MedGen:C1848087
xref: MeSH:D038901
xref: MIM:300115 "phenotype"
[Term]
id: DI-06018
name: Erythrokeratodermia variabilis et progressiva 7
def: "A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. EKVP7 is an autosomal recessive form characterized by palmoplantar keratoderma that extends to the dorsal surface of the hands and feet, as well as erythematous annular skin lesions. Pruritus, woolly hair, and dystrophic nails may also be present." []
xref: MedGen:CN295313
xref: MeSH:D056266
xref: MIM:619209 "phenotype"
[Term]
id: DI-06019
name: Olmsted syndrome 2
def: "A form of Olmsted syndrome, a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes. OLMS2 is an autosomal dominant form with onset in the first months of life or in early childhood." []
synonym: "Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 2" [UniProt]
synonym: "PPKM2" [UniProt]
xref: MedGen:CN295312
xref: MeSH:D007645
xref: MIM:619208 "phenotype"
[Term]
id: DI-06020
name: Premature ovarian failure 18
def: "A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF18 is an autosomal recessive form characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life. The uterus is small, ovaries may be small or rudimentary, and do not show follicular activity." []
xref: MedGen:CN295302
xref: MeSH:D016649
xref: MIM:619203 "phenotype"
[Term]
id: DI-06021
name: Spermatogenic failure 52
def: "An autosomal recessive infertility disorder characterized by azoospermia due to meiotic arrest at the spermatocyte stage." []
xref: MedGen:CN295301
xref: MeSH:D007248
xref: MIM:619202 "phenotype"
[Term]
id: DI-06022
name: Spermatogenic failure 51
def: "An autosomal recessive infertility disorder characterized by asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic abnormalities, including absent, short, bent, coiled and irregular- caliber flagella. Abnormalities of the sperm head, base, and acrosome have also been observed." []
xref: MedGen:CN295265
xref: MeSH:D007248
xref: MIM:619177 "phenotype"
[Term]
id: DI-06023
name: Spermatogenic failure, X-linked, 3
def: "An infertility disorder characterized by asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic abnormalities, including absent, short, coiled, and irregular-caliber flagella." []
xref: MedGen:CN295284
xref: MeSH:D007248
xref: MIM:301059 "phenotype"
[Term]
id: DI-06024
name: Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
def: "An X-linked recessive, congenital disorder characterized by central nervous system, craniofacial, cardiac, skeletal, and genitourinary anomalies. Clinical features include poor growth, short stature, global developmental delay, impaired intellectual development, microcephaly, hydrocephalus, hypotonia, congenital heart defects, hypospadias, and other variable abnormalities. Brain imaging typically shows ventriculomegaly and thin corpus callosum. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade." []
synonym: "Linkage-specific deubiquitylation deficiency-induced embryonic defects" [UniProt]
synonym: "LINKED syndrome" [UniProt]
xref: MedGen:CN295264
xref: MeSH:D065886
xref: MIM:301056 "phenotype"
[Term]
id: DI-06025
name: Developmental and epileptic encephalopathy 90
def: "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE90 is an X-linked form characterized by onset of refractory seizures in the first days or months of life." []
xref: MedGen:CN295287
xref: MeSH:D013036
xref: MIM:301058 "phenotype"
[Term]
id: DI-06026
name: Immunodeficiency 76
def: "An autosomal recessive immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Affected individuals have T-cell lymphopenia and variable B-cell or immunoglobulin abnormalities. Some patients develop B-cell lymphoma, others manifest neurologic features." []
xref: MedGen:CN295271
xref: MeSH:D007153
xref: MIM:619164 "phenotype"
[Term]
id: DI-06027
name: Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities
def: "An autosomal dominant, progressive, neurodegenerative disorder characterized by severe global developmental delay, impaired intellectual development, poor or absent speech, hypotonia, impaired motor development, respiratory insufficiency, and feeding difficulties. Most patients have visual defects, including cortical visual blindness, nystagmus, and esotropia. Brain imaging shows abnormalities affecting the brainstem, cerebellum, and corticospinal tracts. Disease onset is in infancy or early childhood." []
xref: MedGen:CN295280
xref: MeSH:D020271
xref: MIM:619173 "phenotype"
[Term]
id: DI-06028
name: Deafness, autosomal recessive, 117
def: "A form of non-syndromic deafness characterized by prelingual, moderate-to-profound sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN295244
xref: MeSH:D006319
xref: MIM:619174 "phenotype"
[Term]
id: DI-06029
name: Proteasome-associated autoinflammatory syndrome 5
def: "An autosomal recessive, autoinflammatory disorder characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration in the skin, fever, failure to thrive, and persistent hepatosplenomegaly. Disease onset is in early infancy." []
xref: MedGen:CN295285
xref: MeSH:D056660
xref: MIM:619175 "phenotype"
[Term]
id: DI-06030
name: Oocyte/zygote/embryo maturation arrest 10
def: "An autosomal recessive infertility disorder due to abnormal fertilization of mature oocytes, with development of multiple pronuclei or absent pronucleus, and early embryonic arrest." []
synonym: "Oocyte maturation defect 10" [UniProt]
synonym: "OOMD10" [UniProt]
xref: MedGen:CN295260
xref: MeSH:D007247
xref: MIM:619176 "phenotype"
[Term]
id: DI-06031
name: Leukoencephalopathy, progressive, infantile-onset, with or without deafness
def: "An autosomal recessive, complex neurodegenerative disorder apparent from infancy. LEPID is characterized by early-onset progressive leukoencephalopathy with brainstem and spinal cord calcifications, sensorineural deafness in most patients, global developmental delay with cognitive impairment and poor or absent speech, developmental regression, and neurologic deterioration. Additional more variable features may include poor overall growth with microcephaly, seizures, visual loss, microcytic anemia, and hepatic enlargement or abnormal liver enzymes. Premature death is common." []
xref: MedGen:CN295784
xref: MeSH:D056784
xref: MIM:619147 "phenotype"
[Term]
id: DI-06032
name: Deafness, congenital, and adult-onset progressive leukoencephalopathy
def: "An autosomal recessive, complex neurodegenerative disorder characterized by congenital sensorineural deafness, and progressive motor and cognitive decline apparent in young adulthood. Brain imaging shows diffuse white matter abnormalities affecting various brain regions, consistent with a progressive leukoencephalopathy. More variable additional features may include visual impairment and axonal peripheral neuropathy. Premature death may occurr in some patients." []
xref: MedGen:CN295785
xref: MeSH:D056784
xref: MIM:619196 "phenotype"
[Term]
id: DI-06033
name: Nephrotic syndrome 23
def: "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS23 is an autosomal recessive form characterized by onset of proteinuria in the first or second decade of life, and variable outcome. Some patients have normal renal function after many years, whereas others may progress to chronic kidney disease." []
xref: MedGen:CN295786
xref: MeSH:D009404
xref: MIM:619201 "phenotype"
[Term]
id: DI-06034
name: Oculomotor-abducens synkinesis
def: "An autosomal recessive disorder characterized by ptosis and elevation of the eyelid on ipsilateral abduction. OCABSN features are consistent with abnormal innervation of the levator palpebrae superioris muscle, which raises the eyelid, and the lateral rectus muscle, which controls lateral eye movement." []
xref: MedGen:CN295793
xref: MeSH:D015835
xref: MeSH:D046608
xref: MIM:619215 "phenotype"
[Term]
id: DI-06035
name: Neuronopathy, hereditary motor, autosomal recessive 7
def: "An autosomal recessive, neuromyopathic disorder that manifests in childhood or adulthood with proximal and distal muscle weakness predominantly of the lower limbs. Affected individuals have difficulty climbing stairs and problems standing on the heels. Most patients have foot deformities, and some may have leg muscle atrophy. Muscle biopsy and electrophysiologic studies are consistent with both a myopathic process and an axonal motor neuropathy." []
synonym: "HMNMYO" [UniProt]
synonym: "Neuropathy, hereditary motor, autosomal recessive 7" [UniProt]
synonym: "Neuropathy, hereditary motor, with myopathic features" [UniProt]
xref: MedGen:C5543119
xref: MeSH:D009468
xref: MIM:619216 "phenotype"
[Term]
id: DI-06036
name: ENDOVE syndrome, limb-only type
def: "An autosomal recessive disorder characterized by severe shortening and deformation of the legs and feet, 3/4 syndactyly of the hands, and toenails partially displaced to plantar surface. Radiographs show normal femora but severely shortened tibiae, triangular fibulae and malformed or absent bones in the feet. In addition, genitourinary anomalies have been observed." []
synonym: "Mesomelia of lower extremities with hand and foot anomalies" [UniProt]
synonym: "MLEHF" [UniProt]
xref: MedGen:CN295791
xref: MeSH:D001848
xref: MeSH:D013576
xref: MIM:619217 "phenotype"
[Term]
id: DI-06037
name: ENDOVE syndrome, limb-brain type
def: "An autosomal recessive disorder characterized by marked mesomelic shortening of the lower limbs, severe hypoplasia of the tibia and fibula, absent talus, and rudimentary and short foot bones. Hands show short and malformed fingers with a missing digit, and nails are absent on some fingers. Affected individuals manifest neurologic symptoms including seizures and generalized hypotonia. Brain imaging reveals absence of the cerebellum and hypoplasia of the brain stem." []
synonym: "Mesomelia of lower extremities with hand, foot, and brain anomalies" [UniProt]
synonym: "MLEHFB" [UniProt]
xref: MedGen:CN295792
xref: MeSH:D001848
xref: MeSH:D001927
xref: MIM:619218 "phenotype"
[Term]
id: DI-06038
name: Sulfide:quinone oxidoreductase deficiency
def: "An autosomal recessive disorder of hydrogen sulfide metabolism characterized by a variable phenotype. Some patients present with encephalopathy, clinical manifestations of Leigh syndrome, and may have a fatal disease course. Others are asymptomatic. Additional features may include lactic acidosis and decreased mitochondrial respiratory chain complex IV activity in tissues." []
xref: MedGen:CN295794
xref: MeSH:D008661
xref: MIM:619221 "phenotype"
[Term]
id: DI-06039
name: Mitochondrial complex II deficiency, nuclear type 4
def: "A form of mitochondrial complex II deficiency, a disorder with heterogeneous clinical manifestations. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre syndrome. MC2DN4 is a severe, autosomal recessive form characterized by early-onset progressive neurodegeneration with leukoencephalopathy." []
xref: MedGen:CN295804
xref: MeSH:D028361
xref: MIM:619224 "phenotype"
[Term]
id: DI-06040
name: Blistering, acantholytic, of oral and laryngeal mucosa
def: "An autosomal recessive disorder characterized by recurrent, suprabasal acantholytic blisters in the oral and laryngeal mucosa. Skin, conjunctival and genital mucosa, nail folds, and nails are unaffected. Normal structure is observed in the scalp epidermis and hair follicle." []
xref: MedGen:CN295805
xref: MeSH:D001768
xref: MeSH:D009059
xref: MIM:619226 "phenotype"
[Term]
id: DI-06041
name: Vertebral, cardiac, tracheoesophageal, renal, and limb defects
def: "An autosomal dominant disorder with incomplete penetrance and variable expressivity, characterized by cardiac, vertebral, tracheo-esophageal, renal and limb defects. Some patients also exhibit craniofacial abnormalities." []
xref: MedGen:CN295807
xref: MeSH:D000015
xref: MIM:619227 "phenotype"
[Term]
id: DI-06042
name: Macroglobulinemia, Waldenstrom, 1
def: "A malignant B-cell neoplasm characterized by lymphoplasmacytic infiltration of the bone marrow and hypersecretion of monoclonal immunoglobulin M (IgM) protein. Clinical features are variable and include anemia, thrombocytopenia, hepatosplenomegaly, and lymphadenopathy. Many patients have asymptomatic or indolent disease." []
synonym: "Macroglobulinemia, Waldenstrom, somatic" [UniProt]
xref: MedGen:C1835192
xref: MedGen:C3549870
xref: MeSH:D008258
xref: MIM:153600 "phenotype"
[Term]
id: DI-06043
name: Myopathy, myofibrillar, 11
def: "A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM11 is an autosomal recessive form characterized by onset of slowly progressive proximal muscle weakness in the first decade of life. More variable features may include decreased respiratory forced vital capacity, variable cardiac features, and calf hypertrophy. Skeletal muscle biopsy shows myopathic changes with variation in fiber size, type 1 fiber predominance, centralized nuclei, eccentrically placed core-like lesions, and distortion of the myofibrillary pattern with Z-line streaming and abnormal myofibrillar aggregates or inclusions." []
xref: MedGen:CN295281
xref: MeSH:D020914
xref: MIM:619178 "phenotype"
[Term]
id: DI-06044
name: Microcephaly 26, primary, autosomal dominant
def: "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH26 is an autosomal dominant, progressive form apparent at birth or in early infancy. It is associated with relative short stature, variable severity of intellectual disability, and neurological features as the core symptoms. Brain imaging shows a simplified gyral pattern of the cortex and abnormal corpus callosum in some patients." []
xref: MedGen:CN295292
xref: MeSH:D008831
xref: MIM:619179 "phenotype"
[Term]
id: DI-06045
name: Microcephaly 27, primary, autosomal dominant
def: "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH27 is an autosomal dominant form apparent in early childhood and associated with global developmental delay, delayed walking, inability to walk, impaired intellectual development, and poor or absent speech. Brain imaging may show enlarged ventricles or gyral abnormalities in some patients." []
xref: MedGen:CN295291
xref: MeSH:D008831
xref: MIM:619180 "phenotype"
[Term]
id: DI-06046
name: Gastric adenocarcinoma and proximal polyposis of the stomach
def: "A familial gastric polyposis syndrome characterized by autosomal dominant transmission of fundic gland polyposis with occasional hyperplastic and adenomatous polyps, sparing of the gastric antrum, and a significant risk of intestinal-type gastric adenocarcinoma development. Colorectal polyposis is not observed, and family history does not include colorectal cancer." []
synonym: "Fundic gland polyposis" [UniProt]
synonym: "Polyposis of gastric fundus without polyposis coli" [UniProt]
synonym: "Polyposis, gastric" [UniProt]
xref: MedGen:C4749917
xref: MeSH:D013274
xref: MIM:619182 "phenotype"
[Term]
id: DI-06047
name: Proteasome-associated autoinflammatory syndrome 4
def: "An autosomal recessive, autoinflammatory disorder characterized by panniculitis and erythematous skin lesions apparent in early infancy. Additional features include hepatosplenomegaly, lymphadenopathy, autoimmune hemolytic anemia, fever, generalized lipodystrophy, myositis, joint contractures, and mild motor and speech delay." []
xref: MedGen:CN295286
xref: MeSH:D056660
xref: MIM:619183 "phenotype"
[Term]
id: DI-06048
name: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
def: "An autosomal recessive disorder characterized by reduced growth, skeletal abnormalities, a distinctive craniofacial appearance, and dental anomalies. Cardiac anomalies have been reported in some patients." []
xref: MedGen:CN295282
xref: MeSH:D001848
xref: MeSH:D014076
xref: MeSH:D019465
xref: MIM:619184 "phenotype"
[Term]
id: DI-06049
name: Joubert syndrome 37
def: "A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS37 inheritance is autosomal recessive." []
xref: MedGen:CN295300
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:619185 "phenotype"
[Term]
id: DI-06050
name: Intellectual developmental disorder, autosomal dominant 64
def: "An autosomal dominant form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD64 is characterized by mildly to severely impaired intellectual development, speech delay, and autism spectrum disorder in most patients. Additional variable features may include motor delay, attention deficit-hyperactivity disorder, and non-specific dysmorphic features." []
xref: MedGen:CN295315
xref: MeSH:D008607
xref: MIM:619188 "phenotype"
[Term]
id: DI-06051
name: Li-Campeau syndrome
def: "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, intellectual disability, epilepsy, ptosis, hypothyroidism, and variable cardiac and genital anomalies. Additional features may include seizures, short stature, hypotonia, and brain imaging anomalies, such as cortical atrophy." []
xref: MedGen:CN295289
xref: MeSH:D065886
xref: MIM:619189 "phenotype"
[Term]
id: DI-06052
name: Epilepsy, progressive myoclonic 12
def: "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM12 is an autosomal recessive form characterized by onset of tonic-clonic seizures and/or myoclonus in the second decade of life. Affected individuals develop cerebellar ataxia associated with progressive cerebral and cerebellar atrophy on brain imaging. Most patients lose ambulation and become wheelchair-bound. Additional more variable features include mild cognitive dysfunction or psychiatric manifestations, such as depression or anxiety." []
xref: MedGen:CN295304
xref: MeSH:D020191
xref: MIM:619191 "phenotype"
[Term]
id: DI-06053
name: Neurofacioskeletal syndrome with or without renal agenesis
def: "An autosomal recessive syndrome characterized by developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, flexion contractures, brachydactyly of hands and feet with broad fingertips and toes, and dysmorphic features such as coarse face, upslanted palpebral fissures, broad nasal tip and wide mouth. Some patients manifest unilateral or bilateral renal agenesis." []
synonym: "Neurodevelopmental disorder with corpus callosum agenesis, craniofacial dysmorphism, and skeletal anomalies, with or without renal agenesis" [UniProt]
xref: MedGen:CN295290
xref: MeSH:D000015
xref: MIM:619194 "phenotype"
[Term]
id: DI-06054
name: Azoospermia, obstructive, with nephrolithiasis
def: "An X-linked recessive, male infertility disorder characterized by epidydimal obstruction, hypercalciuria and kidney stones." []
xref: MedGen:CN295913
xref: MeSH:D007248
xref: MeSH:D053040
xref: MIM:301060 "phenotype"
[Term]
id: DI-06055
name: Immunodeficiency 78 with autoimmunity and developmental delay
def: "An autosomal recessive disorder characterized by immune dysregulation, increased susceptibility to bacterial, viral and fungal infections, recurrent sinopulmonary or skin infections, and autoimmune abnormalities including hemolytic anemia and autoimmune cytopenias. Patients also have global developmental delay with speech delay and variable intellectual disability. Disease onset is in infancy or early childhood." []
xref: MedGen:CN295833
xref: MeSH:D001327
xref: MeSH:D007153
xref: MIM:619220 "phenotype"
[Term]
id: DI-06056
name: Immunodeficiency 77
def: "An autosomal dominant disorder characterized by recurrent, persistent bacterial and fungal infections with multiple unusual organisms. Skin and pulmonary infections are the most common. Patient macrophages show impaired killing of intracellular bacteria and organisms, including non-tubercular mycobacteria, Pseudomonas, Candida, and Aspergillus." []
xref: MedGen:CN295865
xref: MeSH:D007153
xref: MIM:619223 "phenotype"
[Term]
id: DI-06057
name: Developmental delay with dysmorphic facies and dental anomalies
def: "A disorder characterized by mild global developmental delay, impaired intellectual development, walking by 2 to 3 years, and slow language acquisition.The severity of the disorder ranges from moderate cognitive deficits to mild learning difficulties or behavioral abnormalities. Most patients have dysmorphic facial features, abnormal dentition and non-specific visual defects. DEFDA transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance and variable expressivity." []
xref: MedGen:CN295863
xref: MeSH:D014071
xref: MeSH:D065886
xref: MIM:619228 "phenotype"
[Term]
id: DI-06058
name: Den Hoed-de Boer-Voisin syndrome
def: "A disorder characterized by global developmental delay, moderately to severely impaired intellectual development, poor or absent speech, delayed motor skills, and early-onset epilepsy in many patients. Most affected individuals have feeding difficulties, poor overall growth, dysmorphic facial features, and significant dental anomalies resembling amelogenesis imperfecta. More variable features include visual defects, behavioral abnormalities, and non-specific involvement of other organ systems. DHDBV transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance and variable expressivity." []
synonym: "Kohlschutter-Tonz syndrome-like" [UniProt]
synonym: "KTZSL" [UniProt]
xref: MedGen:CN295864
xref: MeSH:D014071
xref: MeSH:D065886
xref: MIM:619229 "phenotype"
[Term]
id: DI-06059
name: Bile acid conjugation defect 1
def: "An autosomal recessive metabolic disorder characterized by reduced biliary secretion of conjugated bile acids, fat malabsorption, and fat-soluble vitamin deficiency. Clinical manifestations include rickets with variable growth failure due to vitamin D deficiency, and coagulopathy due to deficiency of vitamin K-dependent clotting factors. Additional variable features include pruritis, anemia, hepatomegaly, and bile duct proliferation on liver biopsy. Laboratory studies show abnormally increased levels of unconjugated bile acids." []
xref: MedGen:CN296017
xref: MeSH:D008661
xref: MIM:619232 "phenotype"
[Term]
id: DI-06060
name: Short stature, oligodontia, dysmorphic facies, and motor delay
def: "An autosomal recessive disorder with phenotypic variability. The main clinical features include endosteal hyperostosis, short stature, oligodontia, mild facial dysmorphisms, and delayed motor development. Some patients show progeroid features." []
xref: MedGen:CN295849
xref: MeSH:D000015
xref: MIM:619234 "phenotype"
[Term]
id: DI-06061
name: Immunodeficiency 79
def: "An autosomal recessive disorder characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus (HPV). Some patients may also have recurrent respiratory infections. Laboratory studies show a complete absence of CD4+ T cells." []
synonym: "CD4 deficiency" [UniProt]
xref: MedGen:CN296016
xref: MeSH:D007153
xref: MIM:619238 "phenotype"
[Term]
id: DI-06062
name: Neurodevelopmental disorder with or without autism or seizures
def: "An autosomal dominant disorder manifesting in infancy and characterized by global developmental delay, variably impaired intellectual development, and speech delay. Some patients have seizures, others have autistic features or behavioral abnormalities. Additional variable features include cardiac defects, failure to thrive, or brain imaging anomalies." []
xref: MedGen:CN295979
xref: MeSH:D065886
xref: MIM:619239 "phenotype"
[Term]
id: DI-06063
name: Global developmental delay with speech and behavioral abnormalities
def: "An autosomal dominant disorder manifesting in infancy or early childhood. It is characterized by mildly delayed fine and motor skills, mildly impaired intellectual development, speech and language delay, and variable behavioral abnormalities, mostly autism and attention deficit-hyperactivity disorder. Additional non-specific features include facial dysmorphism, myopia or strabismus, and skeletal defects." []
xref: MedGen:CN296018
xref: MeSH:D065886
xref: MIM:619243 "phenotype"
[Term]
id: DI-06064
name: Premature ovarian failure 19
def: "A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF19 is an autosomal recessive form characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life." []
xref: MedGen:CN295867
xref: MeSH:D016649
xref: MIM:619245 "phenotype"
[Term]
id: DI-06065
name: Vitreoretinopathy with phalangeal epiphyseal dysplasia
def: "An autosomal dominant disorder characterized by rhegmatogenous retinal detachment, premature arthropathy, and development of phalangeal epiphyseal dysplasia resulting in brachydactyly." []
xref: MedGen:C1852989
xref: MeSH:D001848
xref: MeSH:D012164
xref: MeSH:D059327
xref: MIM:619248 "phenotype"
[Term]
id: DI-06066
name: Juberg-Hayward syndrome
def: "An autosomal recessive syndrome characterized by cleft lip/palate, microcephaly, ptosis, hypoplasia or aplasia of thumbs, short stature, dislocation of radial head, and fusion of humerus and radius leading to elbow restriction." []
synonym: "Cleft Lip/Palate with abnormal thumbs and microcephaly" [UniProt]
synonym: "Cleft lip/palate with radial head and digital anomalies" [UniProt]
synonym: "Orocraniodigital syndrome" [UniProt]
xref: MedGen:C0796099
xref: MeSH:D009958
xref: MIM:216100 "phenotype"
[Term]
id: DI-06067
name: Hypercholanemia, familial, 2
def: "An autosomal recessive inborn error of metabolism characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy, fat malabsorption and impaired absorption of fat-soluble vitamins, including D and K. Most patients are asymptomatic. Some neonates may have transient jaundice or transiently elevated liver enzymes." []
synonym: "NTCP deficiency" [UniProt]
synonym: "NTCPD" [UniProt]
xref: MedGen:CN296310
xref: MeSH:D008286
xref: MeSH:D043202
xref: MIM:619256 "phenotype"
[Term]
id: DI-06068
name: Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
def: "An autosomal recessive disorder characterized by global developmental delay apparent from birth, moderate-to-severe intellectual disability, poor or absent speech, and hypotonia. Most patients have variable dysmorphic facial features. Brain imaging shows corpus callosum agenesis, mild ventriculomegaly, simplified gyral pattern, and cerebral atrophy." []
xref: MedGen:CN296165
xref: MeSH:D065886
xref: MIM:619244 "phenotype"
[Term]
id: DI-06069
name: Neurodevelopmental disorder with dysmorphic facies and variable seizures
def: "An autosomal recessive disorder characterized by global developmental delay apparent in early childhood, mildly impaired intellectual development, speech delay, behavioral abnormalities, and non-specific dysmorphic facial features. Some patients may have seizures, brain imaging abnormalities, mild skeletal defects, and renal abnormalities." []
xref: MedGen:CN296333
xref: MeSH:D065886
xref: MIM:619264 "phenotype"
[Term]
id: DI-06070
name: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
def: "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, and poor or absent speech. More severely affected individuals do not achieve independent ambulation, whereas others develop some speech and can walk, or show regression later in childhood. Additional features include axial hypotonia, peripheral spasticity, dystonia, cataracts, and seizures. Brain imaging usually shows cerebellar hypoplasia, thin corpus callosum, cerebral atrophy, and hypomyelination." []
xref: MedGen:CN296469
xref: MeSH:D065886
xref: MIM:619286 "phenotype"
[Term]
id: DI-06071
name: Baralle-Macken syndrome
def: "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, poor or absent speech, and difficulty walking or inability to walk. Affected individuals have early-onset cataracts. Additional variable features are microcephaly, facial dysmorphism, metabolic abnormalities, spasticity, and lymphopenia." []
synonym: "Neurodevelopmental disorder with cataracts and variable microcephaly" [UniProt]
xref: MedGen:CN296196
xref: MeSH:D065886
xref: MIM:619255 "phenotype"
[Term]
id: DI-06072
name: Spermatogenic failure 53
def: "An autosomal recessive infertility disorder characterized by impaired oocyte fertilization due to oocyte activation failure, in association with structural anomalies in sperm heads." []
xref: MedGen:CN296166
xref: MeSH:D007248
xref: MIM:619258 "phenotype"
[Term]
id: DI-06073
name: Neurodegeneration with ataxia and late-onset optic atrophy
def: "An autosomal dominant disorder characterized by slowly progressive cerebellar and gait ataxia, optic atrophy, and myopathy or myalgia. Additional features can include cardiomyopathy, psychiatric disturbances, and peripheral sensory impairment. Disease onset is usually in mid-adulthood." []
xref: MedGen:CN296311
xref: MeSH:D019636
xref: MIM:619259 "phenotype"
[Term]
id: DI-06074
name: Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and Leber congenital amaurosis
def: "An autosomal recessive disorder characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature due to spondyloepiphyseal dysplasia, and motor and intellectual delay. Brain imaging shows abnormalities including delayed myelination, leukoencephalopathy, and cerebellar hypoplasia." []
synonym: "Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis" [UniProt]
xref: MedGen:CN296249
xref: MeSH:D002493
xref: MeSH:D006319
xref: MeSH:D010009
xref: MeSH:D057130
xref: MIM:619260 "phenotype"
[Term]
id: DI-06075
name: Nephrotic syndrome 24
def: "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS24 is an autosomal recessive, slowly progressive form. Most patients eventually develop end-stage renal disease." []
xref: MedGen:CN296327
xref: MeSH:D009404
xref: MIM:619263 "phenotype"
[Term]
id: DI-06076
name: Glanzmann thrombasthenia 2
def: "A form of Glanzmann thrombasthenia, a disorder characterized by failure of platelet aggregation, absent or diminished clot retraction, and mucocutaneous bleeding of mild-to-moderate severity. Glanzmann thrombasthenia has been classified into clinical types I and II. In type I, platelets show absence of glycoprotein IIb-IIIa complexes at their surface and lack fibrinogen and clot retraction capability. In type II, the platelets express glycoprotein IIb-IIIa complexes at reduced levels, have detectable amounts of fibrinogen, and have low or moderate clot retraction capability." []
synonym: "BDPLT23" [UniProt]
synonym: "Bleeding disorder, platelet-type, 23" [UniProt]
xref: MedGen:CN296334
xref: MeSH:D013915
xref: MIM:619267 "phenotype"
[Term]
id: DI-06077
name: Bleeding disorder, platelet-type, 24
def: "An autosomal dominant disorder of platelet production characterized by congenital macrothrombocytopenia and platelet anisocytosis. Affected individuals may have no or only mildly increased bleeding tendency." []
synonym: "Bleeding disorder, platelet-type, 24, autosomal dominant" [UniProt]
synonym: "Glanzmann thrombasthenia-like with macrothrombocytopenia 2" [UniProt]
xref: MedGen:CN296335
xref: MeSH:D001791
xref: MeSH:D006470
xref: MIM:619271 "phenotype"
[Term]
id: DI-06078
name: Alzahrani-Kuwahara syndrome
def: "An autosomal recessive disorder characterized by severe global developmental delay, impaired intellectual function, poor or absent speech, microcephaly, and facial dysmorphism. Additional variable features include early-onset cataracts, hypotonia, lower limb spasticity, and congenital heart malformations." []
synonym: "Neurodevelopmental disorder with dysmorphic facies and cataracts" [UniProt]
xref: MedGen:CN296411
xref: MeSH:D065886
xref: MIM:619268 "phenotype"
[Term]
id: DI-06079
name: Odontochondrodysplasia 2 with hearing loss and diabetes
def: "An autosomal recessive disorder characterized by dentinogenesis imperfecta, delayed tooth eruption, growth retardation with proportionate short stature, skeletal abnormalities, and dysmorphic facies in association with insulin-dependent diabetes mellitus, sensorineural hearing loss, and mild intellectual disability." []
xref: MedGen:CN296332
xref: MeSH:D001847
xref: MeSH:D003920
xref: MeSH:D008607
xref: MeSH:D014071
xref: MeSH:D034381
xref: MIM:619269 "phenotype"
[Term]
id: DI-06080
name: Mitochondrial complex I deficiency, nuclear type 37
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN37 features include developmental delay, cerebral atrophy, epilepsy, growth retardation, congenital myopathy with disproportion of fibers, and severely decreased activity of complex I. MC1DN37 transmission pattern is consistent with autosomal recessive inheritance." []
xref: MedGen:CN296338
xref: MeSH:D028361
xref: MIM:619272 "phenotype"
[Term]
id: DI-06081
name: CIMDAG syndrome
def: "An autosomal dominant syndrome characterized by global developmental delay, severely impaired intellectual development, poor or absent speech, microcephaly, growth retardation, poor motor skills with inability to walk, hypotonia and spasticity, and cataracts. Cerebral and cerebellar atrophy, thin corpus callosum, and delayed myelination are apparent on brain imaging. Affected individuals show hematologic abnormalities mostly consistent with congenital dyserythropoietic anemia." []
synonym: "Cerebellar hypoplasia, cataracts, impaired intellectual development, congenital microcephaly, dystonia, dyserythropoietic anemia, and growth retardation" [UniProt]
xref: MedGen:CN296467
xref: MeSH:D000740
xref: MeSH:D065886
xref: MIM:619273 "phenotype"
[Term]
id: DI-06082
name: Deafness, autosomal dominant, 80
def: "A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA80 is characterized by severe inner ear malformations, bilateral cochlear aplasia and absent eighth cranial nerve." []
xref: MedGen:CN296336
xref: MeSH:D006319
xref: MIM:619274 "phenotype"
[Term]
id: DI-06083
name: Microcephaly, epilepsy, and diabetes syndrome 2
def: "An autosomal recessive disorder characterized by neonatal or early- onset diabetes, severe microcephaly, and epilepsy." []
xref: MedGen:CN296389
xref: MeSH:D003920
xref: MeSH:D004827
xref: MeSH:D008831
xref: MIM:619278 "phenotype"
[Term]
id: DI-06084
name: Parkinsonism with polyneuropathy
def: "An autosomal dominant disorder characterized by late-onset, levodopa- responsive parkinsonism with asymmetric tremor, rigidity and bradykinesia. Patients also manifest a sensorimotor polyneuropathy with variable degrees of distal legs and hands muscle atrophy and weakness, and absent deep tendon reflexes." []
xref: MedGen:CN296412
xref: MeSH:D011115
xref: MeSH:D020734
xref: MIM:619279 "phenotype"
[Term]
id: DI-06085
name: Immunodeficiency 14B, autosomal recessive
def: "An autosomal recessive, primary immunodeficiency characterized by recurrent sinopulmonary infections apparent in early childhood. Some patients may develop inflammatory bowel disease or osteomyelitis. Immunological features include hypogammaglobulinemia, decreased levels of B cells, and evidence of impaired immune-mediated cytotoxicity and defective T-cell function." []
xref: MedGen:CN296456
xref: MeSH:D007153
xref: MIM:619281 "phenotype"
[Term]
id: DI-06086
name: Mahvash disease
def: "An autosomal recessive disorder characterized by alpha-cell hyperplasia of the pancreas, hyperglucagonemia without glucagonoma syndrome, aminoacidemia, and occasional hypoglycemia. The disease may lead to glucagonomas and/or primitive neuroectodermal tumors." []
synonym: "Alpha-cell hyperplasia with glucagonemia" [UniProt]
xref: MedGen:C4763635
xref: MeSH:D010182
xref: MIM:619290 "phenotype"
[Term]
id: DI-06087
name: Pontocerebellar hypoplasia 14
def: "A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH14 is a severe autosomal recessive form characterized by progressive microcephaly, and poor or absent psychomotor development with severely impaired intellectual development apparent from birth. Other features may include hypotonia, spastic quadriplegia, and early- onset seizures. Early death may occur in some patients." []
xref: MedGen:CN296511
xref: MeSH:D002526
xref: MIM:619301 "phenotype"
[Term]
id: DI-06088
name: Pontocerebellar hypoplasia 15
def: "A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH15 is a severe autosomal recessive form characterized by progressive microcephaly, and poor or absent psychomotor development with severely impaired intellectual development apparent from birth. Other features may include spastic quadriplegia, early-onset seizures, and chronic anemia and thrombocytopenia." []
xref: MedGen:CN296512
xref: MeSH:D002526
xref: MIM:619302 "phenotype"
[Term]
id: DI-06089
name: Megaloblastic anemia, folate-responsive
def: "An autosomal recessive metabolic disorder characterized by megaloblastic anemia resulting from decreased folate transport into erythrocytes. Disease manifestations include hemolytic anemia, hyperhomocysteinemia, and low vitamin B12. Serum folate levels are normal, but erythrocyte folate levels are decreased. Treatment with oral folate corrects the anemia and normalizes homocysteine." []
synonym: "Folate level in erythrocytes" [UniProt]
xref: MedGen:C1866295
xref: MeSH:D000749
xref: MeSH:D008661
xref: MIM:601775 "phenotype"
[Term]
id: DI-06090
name: Roifman-Chitayat syndrome
def: "An autosomal recessive digenic disorder characterized by global developmental delay, variable neurologic features such as seizures and ataxia, optic atrophy, dysmorphic facial features, distal skeletal anomalies, and recurrent invasive infections due to combined immunodeficiency." []
synonym: "Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay" [UniProt]
xref: MedGen:C2750068
xref: MeSH:D001847
xref: MeSH:D007153
xref: MeSH:D009422
xref: MIM:613328 "phenotype"
[Term]
id: DI-06091
name: Dystonia 30
def: "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT30 is characterized by early onset and predominantly cervical, bulbar, orofacial, and upper limb involvement. Some patients have a more complex phenotype with neurocognitive impairment, including mild intellectual disability or psychiatric manifestations. Loss of ambulation is observed in some cases. DYT30 inheritance is autosomal dominant with incomplete penetrance." []
xref: MedGen:CN296513
xref: MeSH:D004421
xref: MIM:619291 "phenotype"
[Term]
id: DI-06092
name: Pontocerebellar hypoplasia 1E
def: "A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH1E is an autosomal recessive form characterized by severe hypotonia and respiratory insufficiency apparent soon after birth. Additional features may include optic atrophy, peripheral neuropathy, dysmorphic features, congenital contracture or foot deformities, and seizures. Death occurs in the first days or weeks of life. Postmortem brain imaging show pontocerebellar atrophy and loss of anterior motor neurons in the spinal cord." []
xref: MedGen:CN296586
xref: MeSH:D002526
xref: MIM:619303 "phenotype"
[Term]
id: DI-06093
name: Pontocerebellar hypoplasia 1F
def: "A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH1F is an autosomal recessive form characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features. Brain imaging shows pontocerebellar hypoplasia, thin corpus callosum, cerebral atrophy, and delayed myelination." []
xref: MedGen:CN296587
xref: MeSH:D002526
xref: MIM:619304 "phenotype"
[Term]
id: DI-06094
name: Blepharophimosis-impaired intellectual development syndrome
def: "An autosomal dominant congenital syndrome characterized by blepharophimosis, facial dysmorphism, global development delay, delayed motor skills, impaired intellectual development with poor or absent speech, and behavioral abnormalities in some patients. Additional variable features include distal skeletal anomalies, feeding difficulties with poor growth, respiratory infections, and hypotonia with peripheral spasticity." []
xref: MedGen:CN296514
xref: MeSH:D005124
xref: MeSH:D008607
xref: MIM:619293 "phenotype"
[Term]
id: DI-06095
name: KINSSHIP syndrome
def: "An autosomal dominant disease characterized by developmental delay, impaired intellectual development, seizures, short stature, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive." []
synonym: "Mesomelic dysplasia, AFF3-related" [UniProt]
synonym: "Mesomelic dysplasia, Steichen-Gersdorf type" [UniProt]
xref: MedGen:CN296671
xref: MeSH:D004392
xref: MeSH:D008607
xref: MeSH:D014564
xref: MIM:619297 "phenotype"
[Term]
id: DI-06096
name: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
def: "An autosomal recessive disorder characterized by global developmental delay, intellectual disability, facial dysmorphism, and abnormalities of the cerebellum observed on brain imaging. Disease severity is variable. Some affected individuals have poor overall growth with microcephaly, delayed walking, spasticity, and poor or absent speech. Others may achieve more significant developmental milestones. Additional variable manifestations may include cardiac ventricular septal defect, spasticity, cataracts, optic nerve hypoplasia, seizures, and joint contractures." []
xref: MedGen:CN296589
xref: MeSH:D065886
xref: MIM:619306 "phenotype"
[Term]
id: DI-06097
name: Leukodystrophy, hypomyelinating, 21
def: "An autosomal recessive neurodegenerative disorder characterized by global developmental delay, loss of motor, speech and cognitive milestones in the first decades of life, and diffuse hypomyelination of the white matter and atrophy of the cerebellum and corpus callosum observed on brain imaging. Clinical features include nystagmus, ataxia, dystonia, and spasticity. Other more variable features are feeding difficulties, poor overall growth with microcephaly, optic atrophy, and seizures.The disorder is progressive and may lead to premature death." []
xref: MedGen:CN296583
xref: MeSH:D020279
xref: MIM:619310 "phenotype"
[Term]
id: DI-06098
name: Hiatt-Neu-Cooper neurodevelopmental syndrome
def: "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, delayed walking or inability to walk, impaired intellectual development, poor or absent speech, axial hypotonia, and facial dysmorphism. Additional variable features may include seizures, autistic or behavioral abnormalities, and brain abnormalities." []
xref: MedGen:CN296588
xref: MeSH:D065886
xref: MIM:619311 "phenotype"
[Term]
id: DI-06099
name: Radio-Tartaglia syndrome
def: "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, hypotonia, mild motor difficulties, impaired intellectual development, speech delay, craniofacial dysmorphism, and variable behavioral abnormalities." []
xref: MedGen:CN296672
xref: MeSH:D065886
xref: MIM:619312 "phenotype"
[Term]
id: DI-06100
name: Immunodeficiency 80 with or without congenital cardiomyopathy
def: "An autosomal recessive immunologic disorder with variable manifestations including decreased B and T cells, reduced effector and memory T cells, NK cell deficiency, chronic cytomegalovirus infection. Restrictive cardiomyopathy and hypoplasia of the spleen and thymus have also been reported in some patients." []
xref: MedGen:CN296698
xref: MeSH:D007153
xref: MIM:619313 "phenotype"
[Term]
id: DI-06101
name: Buratti-Harel syndrome
def: "An autosomal dominant neurodevelopmental disorder characterized by hypotonia apparent in early infancy, global developmental delay, delayed walking, language and speech delay, impaired intellectual development, and dysmorphic facial features." []
xref: MedGen:CN296784
xref: MeSH:D065886
xref: MIM:619314 "phenotype"
[Term]
id: DI-06102
name: Developmental and epileptic encephalopathy 6B
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE6B is an autosomal dominant condition characterized by onset of seizures in early infancy, profoundly impaired intellectual development, and a hyperkinetic movement disorder." []
synonym: "Developmental and epileptic encephalopathy 6B, non-Dravet" [UniProt]
xref: MedGen:CN296778
xref: MeSH:D013036
xref: MIM:619317 "phenotype"
[Term]
id: DI-06103
name: Oculogastrointestinal neurodevelopmental syndrome
def: "An autosomal recessive neurodevelopmental disorder characterized by growth deficits, microcephaly, global developmental delay, hearing loss, and microphthalmia and/or coloboma. Other congenital anomalies include imperforate anus, horseshoe kidney, and structural cardiac defects. Some patients have been reported with normal motor and cognitive development." []
xref: MedGen:CN296590
xref: MeSH:D065886
xref: MIM:619318 "phenotype"
[Term]
id: DI-06104
name: Lymphatic malformation 9
def: "A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. Impaired lymphatic drainage in the fetus can develop into hydrops fetalis, a severe condition characterized by excessive fluid accumulation in more than two fetal extra-vascular compartments and body cavities, placental enlargement and edema, pericardial or pleural effusion, or ascites. LMPHM9 is an autosomal dominant form with variable expressivity and incomplete penetrance, characterized by the onset of lower-extremity lymphedema in the first decades of life." []
xref: MedGen:CN296786
xref: MeSH:D008209
xref: MIM:619319 "phenotype"
[Term]
id: DI-06105
name: Intellectual developmental disorder, autosomal dominant 65
def: "An autosomal dominant form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD65 is characterized by delayed motor and speech acquisition, variably impaired intellectual development, behavioral abnormalities, and dysmorphic facial features. Additional variable features include feeding difficulties, hypotonia, and seizures." []
xref: MedGen:CN296787
xref: MeSH:D008607
xref: MIM:619320 "phenotype"
[Term]
id: DI-06106
name: Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
def: "An autosomal recessive disorder characterized by pre- and postnatal growth restriction with microcephaly, distinctive craniofacial features, congenital alopecia, hypoplastic kidneys with renal insufficiency, global developmental delay, severe congenital sensorineural hearing loss, hydrocephalus, genital hypoplasia, and early mortality." []
xref: MedGen:CN296673
xref: MeSH:D000505
xref: MIM:619321 "phenotype"
[Term]
id: DI-06107
name: Marbach-Rustad progeroid syndrome
def: "An autosomal dominant syndrome characterized by progeria-like appearance with little subcutaneous fat and triangular facies, growth retardation, short stature, hypoplastic mandible crowded with unerupted supernumerary teeth, and cerebellar intention tremor." []
xref: MedGen:CN296744
xref: MeSH:D019588
xref: MIM:619322 "phenotype"
[Term]
id: DI-06108
name: Neurodevelopmental disorder with seizures and gingival overgrowth
def: "An autosomal recessive disorder with variable clinical manifestations including delayed development, hypotonia, seizures, gingival hypertrophy associated with a prominent mandible or cherubism in the first years of life. Some patients have early normal development followed by developmental regression. Additional variable features are coarse facial features, optic atrophy, sensorineural hearing loss, and ataxia. Brain imaging may show cerebellar or cerebral atrophy and enlarged ventricles." []
xref: MedGen:CN296788
xref: MeSH:D065886
xref: MIM:619323 "phenotype"
[Term]
id: DI-06109
name: Coffin-Siris syndrome 12
def: "A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS12 is an autosomal dominant form characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity. Most CSS12 patients do not have the classic hypoplastic fifth digit/nail abnormalities that are often observed in other forms the disease." []
xref: MedGen:CN296800
xref: MeSH:D000015
xref: MeSH:D008607
xref: MIM:619325 "phenotype"
[Term]
id: DI-06110
name: BDV syndrome
def: "An autosomal recessive disorder characterized by obesity, intellectual disability, and hypogonadotropic hypogonadism. Additional variable features include central hypothyroidism, hypotonia, and developmental delay." []
synonym: "Blakemore-Durmaz-Vasileiou syndrome" [UniProt]
synonym: "IDDHH" [UniProt]
synonym: "Intellectual developmental disorder and hypogonadotropic hypogonadism" [UniProt]
xref: MedGen:CN296785
xref: MeSH:D007006
xref: MeSH:D008607
xref: MIM:619326 "phenotype"
[Term]
id: DI-06111
name: Leukodystrophy, hypomyelinating, 22
def: "An autosomal dominant disorder characterized by global developmental delay, mildly impaired intellectual development, motor impairment, limb spasticity, dysarthria, and eye abnormalities including hypermetropia. Brain imaging shows hypomyelinating leukodystrophy." []
xref: MedGen:CN296799
xref: MeSH:D020279
xref: MIM:619328 "phenotype"
[Term]
id: DI-06112
name: Fibromuscular dysplasia, multifocal
def: "An autosomal dominant vascular disorder with incomplete penetrance, characterized by fibrous tissue and webs developing in the artery wall and leading to multiple arterial stenoses. Patients with multifocal fibromuscular dysplasia can develop arterial tortuosity, macroaneurysms, and dissections. Arterial rupture may occur." []
xref: MedGen:CN296779
xref: MeSH:D005352
xref: MIM:619329 "phenotype"
[Term]
id: DI-06113
name: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
def: "An autosomal recessive disorder characterized by global developmental delay with predominantly motor abnormalities, axial hypotonia with decreased or absent reflexes, gait ataxia and appendicular spasticity. Affected individuals have cognitive impairment and speech delay. Brain imaging shows cerebellar atrophy." []
xref: MedGen:CN296891
xref: MeSH:D065886
xref: MIM:619333 "phenotype"
[Term]
id: DI-06114
name: Arthrogryposis multiplex congenita 6
def: "A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC6 is an autosomal recessive lethal form. Death usually occurs in utero or in infancy." []
xref: MedGen:CN296892
xref: MeSH:D001176
xref: MIM:619334 "phenotype"
[Term]
id: DI-06115
name: Cataracts, spastic paraparesis, and speech delay
def: "An autosomal dominant disease characterized by bilateral cataracts apparent at birth or in infancy, spastic paraparesis, truncal hypotonia, delayed psychomotor development, and speech delay." []
xref: MedGen:CN296801
xref: MeSH:D002386
xref: MeSH:D009461
xref: MIM:619338 "phenotype"
[Term]
id: DI-06116
name: Bartsocas-Papas syndrome 2
def: "An autosomal recessive, severe form of popliteal pterygium syndrome. Popliteal pterygia syndromes have considerable variability in severity and in the associated phenotypic features but they are all characterized by cutaneous webbing across one or more major joints, cleft lip and/or palate, syndactyly, and genital malformations." []
synonym: "Popliteal pterygium syndrome, Bartsocas-Papas type 2" [UniProt]
xref: MedGen:CN296811
xref: MeSH:D000015
xref: MIM:619339 "phenotype"
[Term]
id: DI-06117
name: Developmental and epileptic encephalopathy 96
def: "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE96 is an autosomal dominant form characterized by onset of seizures in the first days or weeks of life. Affected infants also have hypotonia with respiratory insufficiency that may result in premature death." []
xref: MedGen:CN296895
xref: MeSH:D013036
xref: MIM:619340 "phenotype"
[Term]
id: DI-06118
name: Dysostosis multiplex, Ain-Naz type
def: "An autosomal recessive, severe skeletal disease characterized by features of dysostosis multiplex, severe short stature, coarse facies with broad nose and prominent lips, protruding abdomens, and progressive skeletal changes causing gradual mobility loss. Death in childhood or early adulthood may occur." []
xref: MedGen:CN296810
xref: MeSH:D004413
xref: MIM:619345 "phenotype"
[Term]
id: DI-06119
name: Visceral myopathy 2
def: "A form of visceral myopathy, a gastrointestinal pseudo-obstruction disorder characterized by impaired function of enteric smooth muscle cells, intestinal dysmotility and paresis, severe abdominal pain, and malnutrition. The disease shows inter- and intrafamilial variability. VSCM2 inheritance is autosomal dominant." []
xref: MedGen:CN296893
xref: MeSH:D007418
xref: MIM:619350 "phenotype"
[Term]
id: DI-06120
name: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
def: "A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a congenital visceral myopathy primarily affecting females, and characterized by loss of smooth muscle contraction in the bladder and intestine. Affected individuals present at birth with functional obstruction of intestine, microcolon, dilation of bladder, and secondary hydronephrosis. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure. MMIHS2 inheritance is autosomal recessive." []
xref: MedGen:CN296894
xref: MeSH:D007418
xref: MIM:619351 "phenotype"
[Term]
id: DI-06121
name: Mitochondrial complex IV deficiency, nuclear type 22
def: "An autosomal recessive mitochondrial disorder characterized by hypertrophic cardiomyopathy, encephalopathy, fatal lactic acidosis, and isolated complex IV deficiency." []
xref: MedGen:CN296896
xref: MeSH:D017237
xref: MIM:619355 "phenotype"
[Term]
id: DI-06122
name: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
def: "An autosomal dominant arrhythmogenic disorder characterized by syncope, cardiac arrest and/or sudden unexpected death, often in association with physical exertion or acute emotional stress. Patients who survive manifest polymorphic ventricular tachycardia and ventricular fibrillation. Unlike typical catecholaminergic ventricular tachycardia, arrhythmias are not reproducible on exercise stress testing or adrenaline challenge." []
synonym: "RYR2 calcium release deficiency syndrome" [UniProt]
xref: MedGen:C0003811
xref: MeSH:D017180
xref: MIM:115000 "phenotype"
[Term]
id: DI-06123
name: Hypotaurinemic retinal degeneration and cardiomyopathy
def: "An autosomal recessive disorder characterized by low plasma taurine, childhood-onset progressive retinal degeneration, and cardiomyopathy." []
xref: MedGen:C1840385
xref: MeSH:D009202
xref: MeSH:D012162
xref: MIM:145350 "phenotype"
[Term]
id: DI-06124
name: Angioedema, hereditary, 4
def: "A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE4 is an autosomal dominant form with incomplete penetrance, variable expressivity, and female predominance." []
xref: MedGen:CN297073
xref: MeSH:D054179
xref: MIM:619360 "phenotype"
[Term]
id: DI-06125
name: Angioedema, hereditary, 5
def: "A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE5 is an autosomal dominant form characterized by onset of episodic swelling of the face, lips, hands, and abdomen in the second decade of life." []
xref: MedGen:CN297074
xref: MeSH:D054179
xref: MIM:619361 "phenotype"
[Term]
id: DI-06126
name: Angioedema, hereditary, 6
def: "A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE6 is an autosomal dominant form with onset in adulthood." []
xref: MedGen:CN297075
xref: MeSH:D054179
xref: MIM:619363 "phenotype"
[Term]
id: DI-06127
name: Angioedema, hereditary, 7
def: "A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE7 is an autosomal dominant form characterized by onset of recurrent swelling of the face, lips, and oral mucosa in the second decade." []
xref: MedGen:CN297076
xref: MeSH:D054179
xref: MIM:619366 "phenotype"
[Term]
id: DI-06128
name: Angioedema, hereditary, 8
def: "A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE8 inheritance is autosomal dominant." []
xref: MedGen:CN297077
xref: MeSH:D054179
xref: MIM:619367 "phenotype"
[Term]
id: DI-06129
name: Megacystis-microcolon-intestinal hypoperistalsis syndrome 3
def: "A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a congenital visceral myopathy primarily affecting females, and characterized by loss of smooth muscle contraction in the bladder and intestine. Affected individuals present at birth with functional obstruction of intestine, microcolon, dilation of bladder, and secondary hydronephrosis. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure. MMIHS3 inheritance is autosomal recessive." []
xref: MedGen:CN296939
xref: MeSH:D007418
xref: MIM:619362 "phenotype"
[Term]
id: DI-06130
name: Megacystis-microcolon-intestinal hypoperistalsis syndrome 4
def: "A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a congenital visceral myopathy primarily affecting females, and characterized by loss of smooth muscle contraction in the bladder and intestine. Affected individuals present at birth with functional obstruction of intestine, microcolon, dilation of bladder, and secondary hydronephrosis. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure. MMIHS4 inheritance is autosomal recessive." []
xref: MedGen:CN297340
xref: MeSH:D007418
xref: MIM:619365 "phenotype"
[Term]
id: DI-06131
name: Hypertriglyceridemia 2
def: "An autosomal dominant form of hypertriglyceridemia, a disorder characterized by elevated plasma triglyceride levels. HYTG2 patients also have increased total cholesterol levels and low levels of high density lipoprotein (HDL) cholesterol. Reduced penetrance has been observed." []
xref: MedGen:CN296937
xref: MeSH:D015228
xref: MIM:619324 "phenotype"
[Term]
id: DI-06132
name: Ataxia, intention tremor, and hypotonia syndrome, childhood-onset
def: "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, mildly impaired intellectual development with speech delay or learning disabilities, delayed walking due to ataxia, intention tremor, and hypotonia apparent from early childhood. Brain imaging shows cerebellar atrophy in some patients." []
xref: MedGen:CN297072
xref: MeSH:D065886
xref: MIM:619352 "phenotype"
[Term]
id: DI-06133
name: Deafness, cataract, impaired intellectual development, and polyneuropathy
def: "An autosomal recessive disease characterized by early onset of deafness, cataract, severe developmental delay, and severely impaired intellectual development. Patients later develop polyneuropathy of the lower extremities, associated with depigmentation of the hair in that area." []
xref: MedGen:CN296938
xref: MeSH:D009422
xref: MIM:619354 "phenotype"
[Term]
id: DI-06134
name: Lymphatic malformation 10
def: "A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM10 is an autosomal dominant form characterized by the onset of swelling in the lower extremities within the first year of life. Lymphedema may also occur in the neck, upper extremities, and scrotum or labia majora. Gradual resorption generally occurs, although some patients may experience progression complicated by cellulitis. Incomplete penetrance has been observed in some families." []
xref: MedGen:CN296940
xref: MeSH:D008209
xref: MIM:619369 "phenotype"
[Term]
id: DI-06135
name: Cardiomyopathy, dilated, 2D
def: "A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2D is an autosomal recessive, severe form with neonatal onset." []
xref: MedGen:CN296941
xref: MeSH:D002311
xref: MIM:619371 "phenotype"
[Term]
id: DI-06136
name: Lymphatic malformation 11
def: "A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM11 is an autosomal dominant form characterized by onset of lower extremity edema in the second or third decade of life. Some affected individuals may have subclinical lymphatic malformations." []
xref: MedGen:CN299205
xref: MeSH:D008209
xref: MIM:619401 "phenotype"
[Term]
id: DI-06137
name: Neurodevelopmental disorder with infantile epileptic spasms
def: "An autosomal dominant neurodevelopmental disorder characterized by onset of severe and frequent epileptic spasms within the first year of life. Affected individuals have global developmental delay with delayed walking and poor or absent speech. More variable features may include poor overall growth, high-arched palate, and delayed myelination on brain imaging." []
xref: MedGen:CN297468
xref: MeSH:D065886
xref: MIM:619373 "phenotype"
[Term]
id: DI-06138
name: Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
def: "An autosomal recessive disorder characterized by global developmental delay, severely impaired intellectual development, hypotonia, coarse facial features, and muscle weakness, often resulting in the inability to walk or sit. Additional features include feeding difficulties, respiratory distress, scoliosis, poor visual function, and rotary nystagmus. Brain imaging shows variable abnormalities, including enlarged ventricles, decreased white matter volume, white matter changes, thin corpus callosum, and cerebellar hypoplasia." []
xref: MedGen:CN299209
xref: MeSH:D065886
xref: MIM:619383 "phenotype"
[Term]
id: DI-06139
name: Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
def: "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, seizures or tonic posturing, dysmorphic facial features, and hypoplastic terminal phalanges and nails." []
synonym: "Glycosylphosphatidylinositol biosynthesis defect 24" [UniProt]
synonym: "GPIBD24" [UniProt]
synonym: "OORS syndrome" [UniProt]
xref: MedGen:CN297337
xref: MeSH:D001848
xref: MeSH:D008607
xref: MeSH:D009260
xref: MeSH:D012640
xref: MIM:619356 "phenotype"
[Term]
id: DI-06140
name: Immunodeficiency 81
def: "An autosomal recessive disorder characterized by recurrent infections, including fungal infections, associated with T cell, neutrophil, and NK cell dysfunction. B cells may also show maturation abnormalities. Other features include autoimmune hemolytic anemia and abnormal platelet aggregation." []
xref: MedGen:CN297551
xref: MeSH:D007153
xref: MIM:619374 "phenotype"
[Term]
id: DI-06141
name: Autoinflammatory syndrome, familial, with or without immunodeficiency
def: "An autosomal dominant, autoinflammatory disorder with incomplete penetrance characterized by autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. Additional variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus. Immunodeficiency is present in some patients. Disease onset is usually in the first decades of life, although later onset has been reported." []
xref: MedGen:CN297552
xref: MeSH:D056660
xref: MIM:619375 "phenotype"
[Term]
id: DI-06142
name: Faundes-Banka syndrome
def: "An autosomal dominant disorder characterized by variable combinations of developmental delay, microcephaly, micrognathia and dysmorphic features." []
xref: MedGen:CN297085
xref: MeSH:D065886
xref: MIM:619376 "phenotype"
[Term]
id: DI-06143
name: Osteootohepatoenteric syndrome
def: "An autosomal recessive disorder characterized by cholestasis, congenital diarrhea, impaired hearing, and bone fragility. Some patients also display mild developmental delay and intellectual disability." []
xref: MedGen:CN297086
xref: MeSH:D001847
xref: MeSH:D004066
xref: MeSH:D034381
xref: MIM:619377 "phenotype"
[Term]
id: DI-06144
name: Spermatogenic failure 54
def: "An autosomal recessive male infertility disorder characterized by oligoteratoasthenozoospermia.Semen analysis shows markedly reduced sperm counts and severely reduced or absent sperm motility." []
xref: MedGen:CN297469
xref: MeSH:D007248
xref: MIM:619379 "phenotype"
[Term]
id: DI-06145
name: Spermatogenic failure 55
def: "An autosomal recessive male infertility disorder characterized by asthenozoospermia.Semen analysis shows severely reduced sperm motility." []
xref: MedGen:CN297470
xref: MeSH:D007248
xref: MIM:619380 "phenotype"
[Term]
id: DI-06146
name: Immunodeficiency 82 with systemic inflammation
def: "An autosomal dominant immunologic disorder with onset in early childhood. It is characterized by recurrent infections with various organisms, and multi-organ inflammation that manifests as colitis, hepatitis, arthritis and dermatitis. Patients have a propensity for the development of lymphoma, usually in adulthood. Disease severity is variable." []
xref: MedGen:CN297563
xref: MeSH:D007153
xref: MIM:619381 "phenotype"
[Term]
id: DI-06147
name: Leber-like hereditary optic neuropathy, autosomal recessive 1
def: "An autosomal recessive form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance." []
synonym: "MC1DN38" [UniProt]
synonym: "Mitochondrial complex I deficiency, nuclear type 38" [UniProt]
xref: MedGen:CN297341
xref: MeSH:D015418
xref: MIM:619382 "phenotype"
[Term]
id: DI-06148
name: Combined oxidative phosphorylation deficiency 52
def: "An autosomal recessive mitochondrial disorder with onset in infancy, characterized by lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, multisystem organ failure and abnormal mitochondria." []
xref: MedGen:CN297342
xref: MeSH:D028361
xref: MIM:619386 "phenotype"
[Term]
id: DI-06149
name: Inflammatory bowel disease 31, autosomal recessive
def: "A form of inflammatory bowel disease, a chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology and a multifactorial inheritance pattern. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. IBD31 patients suffer from infantile ulcerative colitis and present with recurrent bloody diarrhea with anemia and leukocytosis, extensive lymphoplasmocytic infiltration, cryptitis, and apoptotic crypt abcesses throughout the colon and rectum." []
synonym: "Inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive" [UniProt]
synonym: "Inflammatory bowel disease, early-onset, autosomal recessive" [UniProt]
xref: MedGen:CN299111
xref: MeSH:D015212
xref: MIM:619398 "phenotype"
[Term]
id: DI-06150
name: Cardiomyopathy, familial hypertrophic, 28
def: "A form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH28 is an autosomal dominant form with incomplete penetrance." []
xref: MedGen:CN299210
xref: MeSH:D024741
xref: MIM:619402 "phenotype"
[Term]
id: DI-06151
name: Hypokalemic tubulopathy and deafness
def: "An autosomal recessive disease characterized by renal tubulopathy with hypokalemia, salt wasting, disturbed acid-base homeostasis, and sensorineural deafness." []
xref: MedGen:CN299282
xref: MeSH:D006319
xref: MeSH:D015499
xref: MIM:619406 "phenotype"
[Term]
id: DI-06152
name: Hypertrophic osteoarthropathy, primary, autosomal dominant
def: "A form of primary hypertrophic osteoarthropathy, a disease characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and variable features of pachydermia that include thickened facial skin and a thickened scalp. PHOAD patients may also experience joint swelling and pain, and some have reported gastrointestinal symptoms, including watery diarrhea. Males are more commonly affected, and more severely affected, than females." []
xref: MedGen:C2674695
xref: MeSH:D010004
xref: MIM:167100 "phenotype"
[Term]
id: DI-06153
name: Sick sinus syndrome 4
def: "The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. SSS4 is characterized by early and progressive sinus node and atrioventricular conduction dysfunction. Some affected individuals are asymptomatic. SSS4 inheritance is autosomal dominant." []
xref: MedGen:CN300240
xref: MeSH:D012804
xref: MIM:619464 "phenotype"
[Term]
id: DI-06154
name: Microcephaly 28, primary, autosomal recessive
def: "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH28 is an autosomal recessive form characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood." []
xref: MedGen:CN300070
xref: MeSH:D008831
xref: MIM:619453 "phenotype"
[Term]
id: DI-06155
name: Cardiomyopathy, familial restrictive 6
def: "A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. RCM6 is an autosomal recessive, severe form characterized by prenatal onset, irreversible heart failure and early death." []
xref: MedGen:CN299794
xref: MeSH:D002313
xref: MIM:619433 "phenotype"
[Term]
id: DI-06156
name: Anencephaly 2
def: "A form of anencephaly, an extreme neural tube defect resulting in the absence of brain tissues, and death in utero or perinatally. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed. ANPH2 features may also include frontonasal dysplasia with midline cleft of the upper lip and alveolar ridge, bifid nose, and clinical anophthalmia. ANPH2 inheritance is autosomal recessive." []
xref: MedGen:CN300068
xref: MeSH:D000757
xref: MIM:619452 "phenotype"
[Term]
id: DI-06157
name: Spinocerebellar ataxia, autosomal recessive, 29
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR29 is a progressive disease characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development." []
synonym: "Barakat-Van Ham-Kaya syndrome" [UniProt]
synonym: "BAVAHAKA" [UniProt]
synonym: "NEDHCA" [UniProt]
synonym: "Neurodevelopmental disorder with hypotonia and cerebellar ataxia" [UniProt]
xref: MedGen:CN299631
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:619389 "phenotype"
[Term]
id: DI-06158
name: Spinocerebellar ataxia, autosomal recessive, 30
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR30 is a progressive disease characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia. Affected individuals may also have psychiatric abnormalities." []
xref: MedGen:CN299630
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:619405 "phenotype"
[Term]
id: DI-06159
name: Spinocerebellar ataxia, autosomal recessive, 31
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR30 is characterized by global developmental delay, hypotonia, variably impaired intellectual and language development, ataxic gait, tremor, and dysarthria. Most affected individuals have optic atrophy. Additional features may include retinitis pigmentosa, sensorineural deafness, dysmorphic facial features, and possibly endocrine dysfunction." []
xref: MedGen:CN299706
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:619422 "phenotype"
[Term]
id: DI-06160
name: WHIM syndrome 2
def: "An autosomal recessive form of WHIM syndrome, a primary immunodeficiency disorder characterized by warts, hypogammaglobulinemia, infections, and myelokathexis. Myelokathexis is a unique form of non-cyclic severe congenital neutropenia caused by accumulation of mature and degenerating neutrophils in the bone marrow. Monocytopenia and lymphopenia, especially B lymphopenia, also commonly occur. There is significant phenotypic variation among patients, such that some individuals may have an incomplete form of the disorder in which one or more of the classic tetrad features are not present." []
synonym: "Warts, hypogammaglobulinemia, infections, and myelokathexis 2" [UniProt]
xref: MedGen:CN299632
xref: MeSH:D000081207
xref: MIM:619407 "phenotype"
[Term]
id: DI-06161
name: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
def: "An autosomal recessive disorder with variable clinical manifestations and severity. Main features include cholestatic hepatitis, poor feeding, poor overall growth, and hypoglycemia apparent from infancy. Most patients have variable global developmental delay, sensorineural deafness, retinal abnormalities with visual defects, and hypotonia. Some patients have endocrine abnormalities. Brain imaging often shows dysmyelination, thin corpus callosum, cerebral atrophy, and white matter abnormalities. Death in early childhood may occur." []
xref: MedGen:CN299634
xref: MeSH:D000015
xref: MIM:619418 "phenotype"
[Term]
id: DI-06162
name: Martsolf syndrome 2
def: "An autosomal recessive disorder characterized by congenital cataracts, mildly to severely impaired intellectual development, and facial dysmorphism. Other features include brain malformations, microcephaly, and hypogonadism-hypogenitalism." []
xref: MedGen:CN299633
xref: MeSH:D002386
xref: MeSH:D007006
xref: MeSH:D008607
xref: MIM:619420 "phenotype"
[Term]
id: DI-06163
name: Combined oxidative phosphorylation deficiency 53
def: "An autosomal recessive mitochondrial disorder characterized by global developmental delay, hypomyelination, cerebral atrophy, microcephaly, liver dysfunction, and recurrent autoinflammation." []
synonym: "Elbracht-Isikay syndrome" [UniProt]
synonym: "Global developmental delay, progressive microcephaly, structural brain abnormalities, and autoinflammation" [UniProt]
xref: MedGen:CN299635
xref: MeSH:D028361
xref: MIM:619423 "phenotype"
[Term]
id: DI-06164
name: Mitochondrial DNA depletion syndrome 16B, neuroophthalmic type
def: "An autosomal recessive disorder characterized by childhood onset of progressive neuroophthalmic manifestations with optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia, and generalized chorea associated with mtDNA depletion." []
xref: MedGen:CN299804
xref: MeSH:D028361
xref: MIM:619425 "phenotype"
[Term]
id: DI-06165
name: White-Kernohan syndrome
def: "An autosomal dominant disorder characterized by global developmental delay, variably impaired intellectual development, hypotonia, and characteristic facial features. Some patients may have genitourinary and skeletal abnormalities." []
synonym: "Global developmental delay, hypotonia, and characteristic facial features" [UniProt]
xref: MedGen:CN299973
xref: MeSH:D065886
xref: MIM:619426 "phenotype"
[Term]
id: DI-06166
name: Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
def: "A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a congenital visceral myopathy primarily affecting females, and characterized by loss of smooth muscle contraction in the bladder and intestine. Affected individuals present at birth with functional obstruction of intestine, microcolon, dilation of bladder, and secondary hydronephrosis. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure. MMIHS5 is an autosomal dominant form with significant inter- and intrafamilial variability." []
xref: MedGen:CN299793
xref: MeSH:D007418
xref: MIM:619431 "phenotype"
[Term]
id: DI-06167
name: Ritscher-Schinzel syndrome 4
def: "An autosomal dominant form of Ritscher-Schinzel syndrome, a developmental malformation syndrome characterized by cerebellar brain anomalies associated with global developmental delay and impaired intellectual development, congenital heart defects, and craniofacial abnormalities." []
xref: MedGen:CN300065
xref: MeSH:D003616
xref: MeSH:D006344
xref: MeSH:D019465
xref: MIM:619435 "phenotype"
[Term]
id: DI-06168
name: Ciliary dyskinesia, primary, 46
def: "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD46 is an autosomal recessive form. No situs abnormalities have been observed." []
xref: MedGen:CN299795
xref: MeSH:D002925
xref: MIM:619436 "phenotype"
[Term]
id: DI-06169
name: Immunodeficiency 84
def: "An autosomal recessive immunologic disorder characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development. There may also be variable T-cell abnormalities. Patients have increased susceptibility to infection with Epstein-Barr virus and a propensity for the development of lymphoma in adulthood." []
xref: MedGen:CN300222
xref: MeSH:D007153
xref: MIM:619437 "phenotype"
[Term]
id: DI-06170
name: Encephalitis, acute, infection (viral)-induced, 11
def: "An autosomal recessive disorder characterized by increased susceptibility to viral encephalitis affecting the brainstem and induced by neurotropic viruses, such as herpes simplex virus-1, influenza B virus or norovirus." []
xref: MedGen:CN300067
xref: MeSH:D018792
xref: MIM:619441 "phenotype"
[Term]
id: DI-06171
name: Diarrhea 12, with microvillus atrophy
def: "An autosomal recessive congenital enteropathy characterized by intractable secretory diarrhea, resulting in severe dehydration and metabolic acidosis. DIAR12 can be diagnosed based on variable loss of brush-border microvilli, microvillus inclusions, and accumulation of subapical vesicles in villus enterocytes." []
synonym: "Microvillus inclusion disease 2" [UniProt]
synonym: "MVID2" [UniProt]
xref: MedGen:CN300062
xref: MeSH:D003968
xref: MeSH:D008286
xref: MIM:619445 "phenotype"
[Term]
id: DI-06172
name: Retinal dystrophy and microvillus inclusion disease
def: "An autosomal recessive disease characterized by early-onset, severe retinal dystrophy associated with intractable congenital diarrhea. Intestinal biopsies show loss of microvilli, microvillus inclusions, and accumulation of subapical vesicles in villus enterocytes." []
xref: MedGen:CN300063
xref: MeSH:D003968
xref: MeSH:D008286
xref: MeSH:D058499
xref: MIM:619446 "phenotype"
[Term]
id: DI-06173
name: Cutis laxa, autosomal recessive, 2E
def: "A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. ARCL2E patients present with cutis laxa, inguinal hernia, craniofacial dysmorphology, variable heart defects, and prominent skeletal features including craniosynostosis, short stature, brachydactyly, and syndactyly." []
synonym: "Cutis laxa, autosomal recessive, type IIE" [UniProt]
xref: MedGen:CN300064
xref: MeSH:D003483
xref: MIM:619451 "phenotype"
[Term]
id: DI-06174
name: Hemolytic disease of fetus and newborn, RH-induced
def: "A disease that occurs in pregnancies in which mothers who lack the D antigen (RhD) of the Rh blood group have been exposed to the RhD- positive red cells of the fetus. The resulting maternal autoantibodies cross the placenta and destroy fetal red cells." []
synonym: "RH disease" [UniProt]
synonym: "RH fetomaternal incompatibility" [UniProt]
xref: MedGen:CN300241
xref: MeSH:D004899
xref: MIM:619462 "phenotype"
[Term]
id: DI-06175
name: Aicardi-Goutieres syndrome 8
def: "A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. AGS8 inheritance is autosomal recessive." []
xref: MedGen:CN300345
xref: MeSH:D009421
xref: MeSH:D020274
xref: MIM:619486 "phenotype"
[Term]
id: DI-06176
name: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
def: "A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM12 is an autosomal recessive, severe form characterized by progressive myopathy with onset shortly after birth, tremor or clonus at birth, and cardiomyopathy usually leading to death by 6 months of age. Skeletal and cardiac muscle tissues show fiber-type disproportion with small type I and normal sized type II fibers, and myofibrillar disorganization." []
xref: MedGen:CN300317
xref: MeSH:D020914
xref: MIM:619424 "phenotype"
[Term]
id: DI-06177
name: Focal segmental glomerulosclerosis and neurodevelopmental syndrome
def: "An autosomal dominant disorder characterized by global developmental delay associated with variable features of focal segmental glomerulosclerosis, a renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early- onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and non-specific dysmorphic facial features, are commonly observed." []
xref: MedGen:CN301126
xref: MeSH:D005923
xref: MeSH:D065886
xref: MIM:619428 "phenotype"
[Term]
id: DI-06178
name: Luo-Schoch-Yamamoto syndrome
def: "An autosomal dominant disorder characterized by intrauterine growth retardation, severe intellectual disability, behavioral problems, early-onset seizures, feeding difficulties, and dysmorphic features. White matter abnormalities and delayed myelination are observed on brain imaging." []
xref: MedGen:CN300315
xref: MeSH:D008607
xref: MeSH:D012640
xref: MIM:619460 "phenotype"
[Term]
id: DI-06179
name: Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
def: "An autosomal recessive form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS7B is characterized by defects at the pre-synaptic neuromuscular junction and severe generalized muscle weakness apparent from birth. Decreased fetal movements may be apparent in utero. Affected infants have generalized hypotonia, head lag, and facial muscle weakness with ptosis. Some patients may have respiratory involvement." []
xref: MedGen:CN300319
xref: MeSH:D020294
xref: MIM:619461 "phenotype"
[Term]
id: DI-06180
name: Portal hypertension, non-cirrhotic, 2
def: "An autosomal recessive disorder characterized by portal hypertension associated with hepatosplenomegaly, in absence of cirrhosis. Portal hypertension is defined by a portal venous system pressure that is at least 5 mm Hg higher than the pressure in the inferior vena cava. High pressure in the portal venous system leads to shunting of blood through vessels that are poorly suited to carrying large blood volumes, resulting in collateral circulation and splenomegaly. NCPH2 patients have jaundice, hyperbilirubinemia, pancytopenia, including neutropenia, lymphopenia, and thrombocytopenia, hepatosplenomegaly, and esophageal varices. Some patients may have recurrent infections or features suggestive of an immunodeficiency." []
xref: MedGen:CN300302
xref: MeSH:D006975
xref: MIM:619463 "phenotype"
[Term]
id: DI-06181
name: Visceral neuropathy, familial, 1, autosomal recessive
def: "An autosomal recessive disorder characterized by intestinal dysmotility due to aganglionosis (Hirschsprung disease), hypoganglionosis, and/or chronic intestinal pseudoobstruction. Additional variable features are progressive peripheral neuropathy, arthrogryposis, hypoplasia or aplasia of the olfactory bulb and of the external auditory canals, microtia or anotia, and facial dysmorphism. Some patients present structural cardiac anomalies and arthrogryposis with multiple pterygia." []
xref: MedGen:C1855733
xref: MeSH:D007410
xref: MeSH:D009422
xref: MIM:243180 "phenotype"
[Term]
id: DI-06182
name: Visceral neuropathy, familial, 2, autosomal recessive
def: "An autosomal recessive disorder characterized by intestinal dysmotility due to aganglionosis (Hirschsprung disease), hypoganglionosis, and/or chronic intestinal pseudoobstruction. Patients also show peripheral axonal neuropathy, hypotonia, mild developmental delay, unilateral ptosis, and sensorineural hearing loss." []
xref: MedGen:CN300314
xref: MeSH:D007410
xref: MeSH:D009422
xref: MIM:619465 "phenotype"
[Term]
id: DI-06183
name: Galloway-Mowat syndrome 9
def: "A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS9 inheritance is autosomal recessive." []
xref: MedGen:CN301228
xref: MeSH:D008831
xref: MeSH:D009404
xref: MeSH:D009422
xref: MIM:619603 "phenotype"
[Term]
id: DI-06184
name: Galloway-Mowat syndrome 10
def: "A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS10 is an autosomal recessive form with fatal outcome. Patients manifest congenital hypothyroidism in addition to neurologic, renal and dysmorphic features." []
xref: MedGen:CN301234
xref: MeSH:D008831
xref: MeSH:D009404
xref: MeSH:D009422
xref: MIM:619609 "phenotype"
[Term]
id: DI-06185
name: Ciliary dyskinesia, primary, 47, and lissencephaly
def: "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD47 is an autosomal recessive form characterized by onset soon after birth or in early childhood. Affected individuals also have neurologic features, such as impaired intellectual development and central hypotonia, associated with structural brain abnormalities, most notably lissencephaly and thin or absent corpus callosum. No situs abnormalities have been observed." []
xref: MedGen:CN300320
xref: MeSH:D002925
xref: MIM:619466 "phenotype"
[Term]
id: DI-06186
name: Nephronophthisis-like nephropathy 2
def: "A disorder with features of nephronophthisis, a cystic kidney disease leading to end-stage renal failure. Nephronophthisis is histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Typical clinical manifestation are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms are frequent. NPHPL2 is an autosomal recessive form characterized by onset of progressive renal insufficiency in the first decades of life." []
xref: MedGen:CN300326
xref: MeSH:D052177
xref: MIM:619468 "phenotype"
[Term]
id: DI-06187
name: Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities
def: "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, speech delay, delayed walking, and behavioral abnormalities. Some patients develop spastic tetraplegia with inability to walk independently and never gain proper speech. Affected individuals may have variable additional features, including poor overall growth, hypotonia, tremor, ocular anomalies, seizures, and non-specific dysmorphic facial features." []
xref: MedGen:CN300330
xref: MeSH:D065886
xref: MIM:619470 "phenotype"
[Term]
id: DI-06188
name: Spermatogenic failure 57
def: "An autosomal recessive male infertility disorder characterized by non- obstructive azoospermia, due to error-prone meiosis and spermatogenic arrest at the late pachytene stage." []
xref: MedGen:CN300452
xref: MeSH:D007248
xref: MIM:619528 "phenotype"
[Term]
id: DI-06189
name: Spermatogenic failure 56
def: "An autosomal recessive male infertility disorder characterized by severely reduced sperm motility, due to multiple morphologic abnormalities of the flagella." []
xref: MedGen:CN300395
xref: MeSH:D007248
xref: MIM:619515 "phenotype"
[Term]
id: DI-06190
name: Bardet-Biedl syndrome 20
def: "A form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease." []
xref: MedGen:C4310707
xref: MeSH:D020788
xref: MIM:619471 "phenotype"
[Term]
id: DI-06191
name: VISS syndrome
def: "An autosomal recessive disease characterized by early-onset thoracic aortic aneurysm, aneurysm and tortuosity of other arteries, motor developmental delay, connective tissue findings such as joint hypermobility, skin laxity and hernias, and craniofacial dysmorphic features. Immune dysregulation has been reported in some patients." []
xref: MedGen:CN300318
xref: MeSH:D001014
xref: MeSH:D002658
xref: MeSH:D003240
xref: MIM:619472 "phenotype"
[Term]
id: DI-06192
name: Oculopharyngodistal myopathy 3
def: "A form of oculopharyngodistal myopathy, a rare hereditary muscle disease characterized by progressive distal limb weakness, ptosis, ophthalmoplegia, bulbar muscle weakness and rimmed vacuoles on muscle biopsy. In addition to muscular features, OPDM3 patients may develop pigmentary retinopathy, peripheral neuropathy, or hearing loss. Cognition is usually not affected, but there may be deficits or psychiatric manifestations. Brain imaging tends to show a leukoencephalopathy, often with a characteristic linear signal along the corticomedullary junction on brain imaging. OPDM3 is a slowly progressive form with an autosomal dominant transmission pattern, and variable age at onset ranging from childhood to late adulthood." []
xref: MedGen:CN301128
xref: MeSH:D039141
xref: MIM:619473 "phenotype"
[Term]
id: DI-06193
name: Developmental delay, impaired speech, and behavioral abnormalities
def: "An autosomal dominant disorder characterized by developmental delay with speech impairment, mild to severe intellectual disability, and behavioral abnormalities including autistic features. Additional variable manifestations may include dysmorphic facial features, seizures, hypotonia, motor abnormalities, and hearing loss." []
xref: MedGen:CN300333
xref: MeSH:D065886
xref: MIM:619475 "phenotype"
[Term]
id: DI-06194
name: Joubert syndrome 38
def: "A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS38 inheritance is autosomal recessive." []
xref: MedGen:CN301127
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:619476 "phenotype"
[Term]
id: DI-06195
name: Short-rib thoracic dysplasia 21 without polydactyly
def: "A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome." []
xref: MedGen:CN301129
xref: MeSH:D012779
xref: MIM:619479 "phenotype"
[Term]
id: DI-06196
name: Facioscapulohumeral muscular dystrophy 3, digenic
def: "A form of facioscapulohumeral muscular dystrophy, a degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. FSHD3 is a digenic form characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs. Muscle involvement is usually asymmetric, and other muscle groups may become involved with progression of the disease." []
xref: MedGen:CN301148
xref: MeSH:D020391
xref: MIM:619477 "phenotype"
[Term]
id: DI-06197
name: Facioscapulohumeral muscular dystrophy 4, digenic
def: "A digenic form of facioscapulohumeral muscular dystrophy, a degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. With disease progression, other muscles may also become affected. There is significant clinical variability and incomplete penetrance." []
xref: MedGen:CN301149
xref: MeSH:D020391
xref: MIM:619478 "phenotype"
[Term]
id: DI-06198
name: Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
def: "An autosomal dominant disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, and autistic-like behaviors. Corpus callosum anomalies are visible on brain imaging. Most patients have dysmorphic features including tall forehead, down-slanting palpebral fissures, ear anomalies and broad nasal bridge. Other variably present clinical features include seizures, sleeping difficulties and precocious puberty." []
xref: MedGen:CN300336
xref: MeSH:D008607
xref: MIM:619480 "phenotype"
[Term]
id: DI-06199
name: Bile acid malabsorption, primary, 2
def: "An autosomal recessive disorder characterized by chronic diarrhea, severe fat-soluble vitamin deficiency, and features of cholestatic liver disease." []
xref: MedGen:CN300335
xref: MeSH:D008286
xref: MIM:619481 "phenotype"
[Term]
id: DI-06200
name: Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
def: "An autosomal recessive form of congenital central hypoventilation syndrome, a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, or an identifiable brainstem lesion. CCHS2 is characterized by shallow breathing and apneic spells apparent in the neonatal period. Some patients have other features of autonomic dysfunction, including bladder dysfunction, sinus bradycardia, and temperature dysregulation." []
xref: MedGen:CN300369
xref: MeSH:D001049
xref: MeSH:D007040
xref: MIM:619482 "phenotype"
[Term]
id: DI-06201
name: Cholestasis, progressive familial intrahepatic, 6
def: "An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC6 patients have elevated liver transaminases and congenital diarrhea." []
xref: MedGen:CN301147
xref: MeSH:D002780
xref: MIM:619484 "phenotype"
[Term]
id: DI-06202
name: Parkinson disease 24, autosomal dominant
def: "An autosomal dominant form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK24 shows incomplete penetrance." []
xref: MedGen:CN300371
xref: MeSH:D010300
xref: MIM:619491 "phenotype"
[Term]
id: DI-06203
name: Spermatogenic failure 58
def: "An autosomal recessive male infertility disorder characterized by absent or severely reduced sperm motility, due to multiple morphological abnormalities of the sperm flagellum." []
xref: MedGen:CN301082
xref: MeSH:D007248
xref: MIM:619585 "phenotype"
[Term]
id: DI-06204
name: Spermatogenic failure 59
def: "An autosomal recessive male infertility disorder characterized by non- obstructive azoospermia, due to sperm maturation arrest." []
xref: MedGen:CN305050
xref: MeSH:D007248
xref: MIM:619645 "phenotype"
[Term]
id: DI-06205
name: Spermatogenic failure 60
def: "An autosomal recessive male infertility disorder characterized by non- obstructive azoospermia, due to sperm maturation arrest before the pachytene stage." []
xref: MedGen:CN305321
xref: MeSH:D007248
xref: MIM:619646 "phenotype"
[Term]
id: DI-06206
name: Spermatogenic failure 61
def: "An autosomal recessive male infertility disorder characterized by non- obstructive azoospermia, due to complete meiotic arrest at the primary spermatocyte stage." []
xref: MedGen:CN305322
xref: MeSH:D007248
xref: MIM:619672 "phenotype"
[Term]
id: DI-06207
name: Spermatogenic failure 62
def: "An autosomal recessive male infertility disorder characterized by non- obstructive azoospermia, due to complete metaphase arrest at the spermatocyte stage." []
xref: MedGen:CN305323
xref: MeSH:D007248
xref: MIM:619673 "phenotype"
[Term]
id: DI-06208
name: Spermatogenic failure 63
def: "An autosomal recessive male infertility disorder characterized by severe oligozoospermia and reduced progressive sperm motility." []
xref: MeSH:D007248
xref: MIM:619689 "phenotype"
[Term]
id: DI-06209
name: DEGCAGS syndrome
def: "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, coarse facial features, and abnormalities of the cardiovascular, gastrointestinal, genitourinary and skeletal system. Other common features included anemia or pancytopenia, immunodeficiency and recurrent infections, and sensorineural hearing impairment. Death in childhood may occur." []
synonym: "Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities" [UniProt]
xref: MedGen:CN300351
xref: MeSH:D065886
xref: MIM:619488 "phenotype"
[Term]
id: DI-06210
name: Deafness, autosomal dominant, 81
def: "A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DNFA81 is characterized by postlingual onset of slowly progressive deafness." []
xref: MedGen:CN300360
xref: MeSH:D006319
xref: MIM:619500 "phenotype"
[Term]
id: DI-06211
name: Short stature, Dauber-Argente type
def: "An autosomal recessive disorder characterized by progressive postnatal growth failure, moderate microcephaly, thin long bones, mildly decreased bone density, and elevated serum levels of total IGF1, IGFBP3 and IGFBP5. Levels of circulating free IGF1 are reduced." []
xref: MedGen:CN300348
xref: MeSH:D004392
xref: MIM:619489 "phenotype"
[Term]
id: DI-06212
name: Cardiomyopathy, dilated, 2E
def: "A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2E is an autosomal recessive form with neonatal or early childhood onset and rapid progression to cardiac failure." []
xref: MedGen:CN301152
xref: MeSH:D002311
xref: MIM:619492 "phenotype"
[Term]
id: DI-06213
name: Congenital disorder of glycosylation 2V
def: "A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2V is an autosomal recessive form characterized by neurodevelopmental delay and variable facial dysmorphic features." []
synonym: "Congenital disorder of glycosylation, type 2V" [UniProt]
xref: MedGen:CN300357
xref: MeSH:D018981
xref: MIM:619493 "phenotype"
[Term]
id: DI-06214
name: Chopra-Amiel-Gordon syndrome
def: "An autosomal dominant disorder characterized by developmental delay, intellectual disability, speech delay, and dysmorphic facial features. Additional features include growth failure, feeding difficulties, non- specific brain abnormalities, ophthalmological abnormalities, gait and balance disturbance, joint hypermobility, and predisposition to recurrent infections." []
xref: MedGen:CN300380
xref: MeSH:D065886
xref: MIM:619504 "phenotype"
[Term]
id: DI-06215
name: Central hypoventilation syndrome, congenital, 3
def: "A form of congenital central hypoventilation syndrome, a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, or an identifiable brainstem lesion. CCHS3 is an autosomal recessive, neonatal form characterized by slow and shallow breathing due to a deficiency in autonomic control of respiration. Affected individuals present with respiratory insufficiency and absence of the hypercapnic reflex that stimulates breathing. Additional features include gastrointestinal problems, poor heat tolerance and paroxysmal hypertension." []
xref: MedGen:CN300491
xref: MeSH:D001049
xref: MeSH:D007040
xref: MIM:619483 "phenotype"
[Term]
id: DI-06216
name: Ventriculomegaly and arthrogryposis
def: "An autosomal recessive disorder with fatal outcome, characterized by prenatal onset of severe features including limb contractures, arthrogryposis, and enlarged brain ventricles that may be associated with hydrocephalus, abnormalities of the corpus callosum, and cerebellar hypoplasia. Some affected fetuses may also have congenital heart disease and hydrops fetalis. Death occurs in utero." []
xref: MedGen:CN300393
xref: MeSH:D001176
xref: MeSH:D006849
xref: MIM:619501 "phenotype"
[Term]
id: DI-06217
name: Neurodevelopmental disorder with hypotonia and dysmorphic facies
def: "An autosomal dominant disorder characterized by global developmental delay, hypotonia, and variably impaired intellectual development, often with speech delay and delayed walking. Most patients have dysmorphic facial features. Clinical features are highly variable and may include congenital cardiac defects, non-specific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism." []
xref: MedGen:CN300394
xref: MeSH:D065886
xref: MIM:619503 "phenotype"
[Term]
id: DI-06218
name: Immunodeficiency 85
def: "An autosomal dominant immunologic disorder characterized by early- onset autoimmunity and features of combined immunodeficiency such as hypogammaglobulinemia and abnormal T-cell function. Clinical manifestations include atopic eczema and recurrent respiratory infections in the first decade of life, autoimmune enteropathy, growth failure, autoimmune oligoarthritis, interstitial pneumonitis, and EBV viremia." []
xref: MedGen:CN300408
xref: MeSH:D007153
xref: MIM:619510 "phenotype"
[Term]
id: DI-06219
name: Neurodevelopmental disorder with hypotonia and brain abnormalities
def: "An autosomal dominant disorder characterized by onset in infancy or early childhood, global developmental delay, hypotonia, impaired intellectual development, and poor or absent speech. Additional variable manifestations may be present, including feeding difficulties, seizures, behavioral abnormalities, and non-specific dysmorphic facial features. Brain imaging shows variable abnormalities, including corpus callosum and cerebellar defects, and decreased white matter volume." []
xref: MedGen:CN300409
xref: MeSH:D065886
xref: MIM:619512 "phenotype"
[Term]
id: DI-06220
name: Neurodevelopmental disorder with seizures and brain abnormalities
def: "An autosomal recessive neurologic disorder characterized by global developmental delay and onset of seizures in the first months of life, and structural brain defects on brain imaging. Additional features may include pigmentary retinopathy with poor visual fixation and spasticity." []
xref: MedGen:CN300410
xref: MeSH:D065886
xref: MIM:619517 "phenotype"
[Term]
id: DI-06221
name: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
def: "An autosomal recessive disorder characterized by early-onset progressive muscle weakness, sensorineural hearing loss, and primary amenorrhea due to ovarian insufficiency. Some patients become wheelchair-bound by the second decade, whereas others have a milder phenotype and maintain independent ambulation into adulthood. Most patients have respiratory insufficiency." []
xref: MedGen:CN300442
xref: MeSH:D006319
xref: MeSH:D009136
xref: MeSH:D016649
xref: MIM:619518 "phenotype"
[Term]
id: DI-06222
name: Charcot-Marie-Tooth disease, axonal, 2FF
def: "A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2FF is characterized by early-childhood onset of difficulties walking or running due to atrophy and weakness of the lower limbs. Some patients lose independent ambulation. There is also prominent involvement of the upper limbs." []
synonym: "Charcot-Marie-Tooth disease, axonal, type 2FF" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy, type 2FF" [UniProt]
xref: MedGen:CN300474
xref: MeSH:D002607
xref: MIM:619519 "phenotype"
[Term]
id: DI-06223
name: Epilepsy, idiopathic generalized 18
def: "An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. EIG18 is characterized by onset of myoclonic seizures in infancy. Although the seizures remit, some patients may have later speech or cognitive impairment." []
xref: MedGen:CN300443
xref: MeSH:D004829
xref: MIM:619521 "phenotype"
[Term]
id: DI-06224
name: Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
def: "An autosomal dominant disorder characterized by dysmorphic craniofacial features, mild developmental delay, mildly impaired intellectual development or learning difficulties, speech delay, and behavioral abnormalities. About half of patients have congenital anomalies of the kidney and urinary tract and/or congenital cardiac defects, including septal defects." []
xref: MedGen:CN300451
xref: MeSH:D006330
xref: MeSH:D014564
xref: MeSH:D019465
xref: MeSH:D065886
xref: MIM:619522 "phenotype"
[Term]
id: DI-06225
name: Anemia, sideroblastic, 5
def: "A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA5 inheritance is autosomal recessive." []
xref: MedGen:CN300476
xref: MeSH:D000756
xref: MIM:619523 "phenotype"
[Term]
id: DI-06226
name: Congenital disorder of glycosylation 2W
def: "A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2W is an autosomal dominant disorder characterized by liver dysfunction and coagulation deficiencies." []
synonym: "Congenital disorder of glycosylation, type IIw" [UniProt]
xref: MedGen:CN300449
xref: MeSH:D018981
xref: MIM:619525 "phenotype"
[Term]
id: DI-06227
name: Pontocerebellar hypoplasia 16
def: "A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH16 is an autosomal recessive, severe form characterized by hypotonia and severe global developmental delay apparent from early infancy. Other features may include stereotypic movements, spasticity, and progressive microcephaly." []
xref: MedGen:CN300499
xref: MeSH:D002526
xref: MIM:619527 "phenotype"
[Term]
id: DI-06228
name: Cone-rod dystrophy 22
def: "An autosomal recessive form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors." []
xref: MedGen:CN300475
xref: MeSH:D058499
xref: MIM:619531 "phenotype"
[Term]
id: DI-06229
name: Neuroocular syndrome 1
def: "An autosomal dominant form of neuroocular syndrome, a group of disorders characterized by developmental delay, impaired intellectual development and ocular anomalies as primary findings. Variable eye abnormalities include anophthalmia, microphthalmia, and coloboma. Other common features include congenital heart and kidney defects, hypotonia, failure to thrive, and microcephaly." []
xref: MedGen:CN300501
xref: MeSH:D000013
xref: MeSH:D005124
xref: MeSH:D065886
xref: MIM:619539 "phenotype"
[Term]
id: DI-06230
name: King-Denborough syndrome
def: "An autosomal dominant disorder characterized by the triad of dysmorphic features, congenital myopathy, and susceptibility to malignant hyperthermia. Variable expressivity has been reported in several cases." []
synonym: "King syndrome" [UniProt]
xref: MedGen:C1840365
xref: MeSH:D008305
xref: MIM:619542 "phenotype"
[Term]
id: DI-06231
name: Boudin-Mortier syndrome
def: "An autosomal recessive disorder characterized by tall stature, long digits, and extra epiphyses in the hands and feet. In addition, some patients show joint hypermobility and dilation of the aortic root." []
synonym: "Tall stature and long digits with extra epiphyses" [UniProt]
xref: MedGen:CN300502
xref: MeSH:D006130
xref: MeSH:D017880
xref: MIM:619543 "phenotype"
[Term]
id: DI-06232
name: Hypoplastic femurs and pelvis
def: "An autosomal dominant disorder characterized by isolated bilateral hypoplasia of the femoral and pelvic bones." []
xref: MedGen:CN300513
xref: MeSH:D001848
xref: MIM:619545 "phenotype"
[Term]
id: DI-06233
name: Deafness, autosomal recessive, 118, with cochlear aplasia
def: "A form of non-syndromic deafness characterized by congenital profound sensorineural hearing loss and cochlear aplasia. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN300600
xref: MeSH:D006319
xref: MIM:619553 "phenotype"
[Term]
id: DI-06234
name: Retinitis pigmentosa 91
def: "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP91 is an autosomal dominant form with bone-spicule pigmentation, attenuation of retinal vessels, and optic disk pallor on funduscopy. Patients may also experience early macular involvement, with photophobia and reduced visual acuity, and some show a bull's eye pattern of macular atrophy." []
synonym: "BCAMD" [UniProt]
synonym: "Macular dystrophy, benign concentric annular" [UniProt]
synonym: "Macular dystrophy, concentric annular" [UniProt]
synonym: "MCDCA" [UniProt]
xref: MedGen:C1828210
xref: MeSH:D012174
xref: MIM:153870 "phenotype"
[Term]
id: DI-06235
name: Epilepsy, idiopathic generalized 17
def: "A form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. Both autosomal dominant and autosomal recessive EIG17 inheritance have been reported." []
xref: MedGen:C1865342
xref: MeSH:D004829
xref: MIM:602477 "phenotype"
[Term]
id: DI-06236
name: Febrile seizures, familial, 2
def: "Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. FEB2 transmission pattern is consistent with autosomal dominant inheritance." []
xref: MedGen:C1865342
xref: MeSH:D003294
xref: MIM:602477 "phenotype"
[Term]
id: DI-06237
name: Cataract 49
def: "A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT49 is an autosomal dominant form characterized by congenital cataract located in the posterior region of the lens. Visual impairment has onset in early childhood." []
synonym: "Cataract 49, posterior" [UniProt]
xref: MedGen:CN301093
xref: MeSH:D002386
xref: MIM:619593 "phenotype"
[Term]
id: DI-06238
name: Rhizomelic dysplasia, Ain-Naz type
def: "An autosomal recessive skeletal dysplasia characterized by short stature, marked rhizomelic shortening of the limbs, platyspondyly, hip dysplasia, and large hands and feet relative to height." []
xref: MedGen:CN301098
xref: MeSH:D010009
xref: MIM:619598 "phenotype"
[Term]
id: DI-06239
name: Joubert syndrome 39
def: "A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS39 inheritance is autosomal recessive." []
xref: MedGen:CN300809
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:619562 "phenotype"
[Term]
id: DI-06240
name: Joubert syndrome 40
def: "A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS40 inheritance is autosomal recessive." []
xref: MedGen:CN301081
xref: MeSH:D002526
xref: MeSH:D005124
xref: MeSH:D052177
xref: MIM:619582 "phenotype"
[Term]
id: DI-06241
name: Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
def: "An autosomal dominant disorder characterized by axial hypotonia and global developmental delay. Affected individuals show impaired intellectual development, delayed walking, poor speech, and behavioral abnormalities. Some patients have a more severe phenotype with early- onset seizures resembling epileptic encephalopathy, inability to walk or speak, and hypomyelination on brain imaging." []
xref: MedGen:CN301097
xref: MeSH:D065886
xref: MIM:619580 "phenotype"
[Term]
id: DI-06242
name: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
def: "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development and speech delay that are observed in most patients. Disease manifestations are variable and include infantile-onset hypotonia, poor motor development, poor feeding and overall growth, and ataxic gait due to cerebellar ataxia. Additional variable features are dysarthria, nystagmus, variable ocular anomalies, spasticity, hyperreflexia, and non-specific dysmorphic features. Brain imaging shows cerebellar hypoplasia, often with brainstem hypoplasia, enlarged ventricles, delayed myelination, and thin corpus callosum. A significant number of patients develop cardiac conduction defects in childhood or adolescence." []
xref: MedGen:CN301080
xref: MeSH:D000075224
xref: MeSH:D001927
xref: MeSH:D009461
xref: MIM:619576 "phenotype"
[Term]
id: DI-06243
name: Heterotaxy, visceral, 12, autosomal
def: "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. Early death may occur. HTX12 inheritance is autosomal recessive." []
xref: MedGen:CN306198
xref: MeSH:D059446
xref: MIM:619702 "phenotype"
[Term]
id: DI-06244
name: Developmental delay with or without intellectual impairment or behavioral abnormalities
def: "An autosomal dominant disorder characterized by a highly variable phenotype of developmental delay, intellectual disability, learning or behavioral problems, muscular hypotonia, and neonatal feeding difficulties." []
xref: MedGen:CN301040
xref: MeSH:D065886
xref: MIM:619575 "phenotype"
[Term]
id: DI-06245
name: Charcot-Marie-Tooth disease, axonal, 2HH
def: "An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2HH is characterized by vocal fold paresis that remains throughout life and may be severe. Additional features include pes cavus, scoliosis, distal sensory impairment with hyporeflexia, mild distal muscle weakness and atrophy primarily affecting the lower limbs, although the upper limbs may also be involved." []
synonym: "Charcot-Marie-Tooth disease, axonal, type 2HH" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy, type 2HH" [UniProt]
xref: MedGen:CN301079
xref: MeSH:D002607
xref: MIM:619574 "phenotype"
[Term]
id: DI-06246
name: Immunodeficiency 87 and autoimmunity
def: "An autosomal recessive disorder with onset in infancy or early childhood. It is characterized by increased susceptibility to infections, often Epstein-Barr virus, as well as lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. The disorder results primarily from defects in T-cell function." []
xref: MedGen:CN301078
xref: MeSH:D007153
xref: MIM:619573 "phenotype"
[Term]
id: DI-06247
name: Muscular dystrophy, limb-girdle, autosomal recessive 27
def: "An autosomal recessive muscular disorder characterized by progressive muscle weakness most prominent in the proximal lower limb and axial muscles, and resulting in walking difficulty or loss of ambulation. Additional more variable features include neck muscle weakness, scoliosis, and joint contractures. Some affected individuals manifest impaired intellectual development or speech delay, cardiomyopathy, and cardiac arrhythmia. Muscle biopsy shows non-specific dystrophic changes." []
xref: MedGen:CN301075
xref: MeSH:D049288
xref: MIM:619566 "phenotype"
[Term]
id: DI-06248
name: Developmental and epileptic encephalopathy 97
def: "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE97 is an autosomal dominant form." []
xref: MedGen:CN300807
xref: MeSH:D013036
xref: MIM:619561 "phenotype"
[Term]
id: DI-06249
name: Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies
def: "An autosomal recessive syndrome characterized by short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies." []
synonym: "SIMHA syndrome" [UniProt]
xref: MedGen:CN300601
xref: MeSH:D001848
xref: MeSH:D008607
xref: MIM:619557 "phenotype"
[Term]
id: DI-06250
name: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
def: "An autosomal dominant disorder characterized by global developmental delay, impaired intellectual development, poor or absent speech, hypotonia, ophthalmologic abnormalities, and non-specific dysmorphic features. Some affected individuals have seizures, and a few have involvement of other organ systems." []
xref: MedGen:CN300808
xref: MeSH:D065886
xref: MIM:619556 "phenotype"
[Term]
id: DI-06251
name: Epidermolysis bullosa simplex 2A, generalized severe
def: "A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2A is an autosomal dominant, severe form characterized by extensive intraepidermal blistering from the time of birth with herpetiform marginal spreading and central healing. Oral mucosal involvement, nail dystrophy, onychogryposis, formation of milia, and palmoplantar hyperkeratosis are common features." []
synonym: "Epidermolysis bullosa simplex 2a, Dowling-Meara type" [UniProt]
xref: MedGen:CN301077
xref: MeSH:D016110
xref: MIM:619555 "phenotype"
[Term]
id: DI-06252
name: Epidermolysis bullosa simplex 2B, generalized intermediate
def: "A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2B is an autosomal dominant form characterized by generalized blistering manifesting at birth. The tendency to blistering diminishes in adolescence, when it may become localized to hands and feet." []
synonym: "Epidermolysis bullosa simplex 2B, Koebner type" [UniProt]
xref: MedGen:CN301100
xref: MeSH:D016110
xref: MIM:619588 "phenotype"
[Term]
id: DI-06253
name: Epidermolysis bullosa simplex 2C, localized
def: "A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2C is an autosomal dominant form with intraepidermal blistering mainly restricted to hands and feet beginning in infancy. Nails may be thick and dystrophic." []
synonym: "Epidermolysis bullosa simplex 2C, Weber-Cockayne type" [UniProt]
xref: MedGen:CN301101
xref: MeSH:D016110
xref: MIM:619594 "phenotype"
[Term]
id: DI-06254
name: Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive
def: "A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2D is an autosomal recessive form characterized by widespread intraepidermal skin blistering and erosions from birth. Death may occur in the neonatal period." []
xref: MedGen:CN301099
xref: MeSH:D016110
xref: MIM:619599 "phenotype"
[Term]
id: DI-06255
name: Immunodeficiency 86
def: "An autosomal recessive disorder characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine. Affected individuals usually develop localized mycobacterial lymphadenopathy." []
synonym: "Immunodeficiency 86, mycobacteriosis, autosomal recessive" [UniProt]
xref: MedGen:CN300806
xref: MeSH:D007153
xref: MIM:619549 "phenotype"
[Term]
id: DI-06256
name: Cerebral cavernous malformations 4
def: "A form of cerebral cavernous malformations, a congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. CCM4 cases occur sporadically." []
xref: MedGen:CN119550
xref: MeSH:D020786
xref: MIM:619538 "phenotype"
[Term]
id: DI-06257
name: Biliary, renal, neurologic, and skeletal syndrome
def: "An autosomal recessive ciliopathy with multisystemic manifestations including severe neonatal cholestasis that progresses to liver fibrosis and cirrhosis, postaxial polydactyly, hydrocephalus, retinal abnormalities, and situs inversus. Additional features may include congenital cardiac defects, echogenic kidneys with renal failure, ocular abnormalities, joint hyperextensibility, and dysmorphic facial features. Some patients have global developmental delay. Brain imaging typically shows dilated ventricles, hypomyelination, and white matter abnormalities, although some patients have been described with abnormal pituitary development." []
synonym: "BRENS syndrome" [UniProt]
xref: MedGen:CN300605
xref: MeSH:D000072661
xref: MIM:619534 "phenotype"
[Term]
id: DI-06258
name: Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies
def: "A disorder characterized by severe developmental delay with impaired intellectual development and poor speech, coarse facial dysmorphisms, and Blaschkoid pigmentary mosaicism. Additional clinical features may include epilepsy, orthopedic abnormalities, hypotonia, and growth abnormalities. The disorder affects both males and females." []
xref: MedGen:CN301092
xref: MeSH:D038901
xref: MIM:301066 "phenotype"
[Term]
id: DI-06259
name: Usmani-Riazuddin syndrome, autosomal dominant
def: "A neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, and behavioral abnormalities. More variable additional features may include seizures and distal limb anomalies." []
xref: MedGen:CN300604
xref: MeSH:D065886
xref: MIM:619467 "phenotype"
[Term]
id: DI-06260
name: Usmani-Riazuddin syndrome, autosomal recessive
def: "A neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, spasticity, and behavioral abnormalities. More variable additional features may include seizures, scoliosis, and joint laxity." []
xref: MedGen:CN300606
xref: MeSH:D065886
xref: MIM:619548 "phenotype"
[Term]
id: DI-06261
name: Dystonia 31
def: "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT31 is an autosomal recessive, progressive form with onset from childhood to young adulthood. Involuntary muscle twisting movements and postural abnormalities affect the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties." []
synonym: "Zech-Boesch syndrome" [UniProt]
xref: MedGen:CN301208
xref: MeSH:D004421
xref: MIM:619565 "phenotype"
[Term]
id: DI-06262
name: Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
def: "An autosomal dominant disorder characterized by developmental delay, speech delay, mild to severe intellectual disability, hypotonia, musculoskeletal features, and behavioral abnormalities including autistic features. Skeletal anomalies include joint hypermobility, chronic musculoskeletal pain, scoliosis, and pectus defects. Affected individuals also have non-specific and variable dysmorphic facial features." []
xref: MedGen:CN301221
xref: MeSH:D065886
xref: MIM:619595 "phenotype"
[Term]
id: DI-06263
name: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
def: "An autosomal recessive disease characterized by fetal akinesia, and generalized joint contractures and arthrogryposis at birth. Affected newborns have severe respiratory insufficiency and significant dysmorphic facial features. Malformations of cortical development are seen on brain imaging, most commonly polymicrogyria or other gyral anomalies. Death usually occurs in infancy." []
xref: MedGen:CN301231
xref: MeSH:D000013
xref: MIM:619602 "phenotype"
[Term]
id: DI-06264
name: Developmental and epileptic encephalopathy 98
def: "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE98 is an autosomal dominant form characterized by onset of seizures in the first decade." []
xref: MedGen:CN301232
xref: MeSH:D013036
xref: MIM:619605 "phenotype"
[Term]
id: DI-06265
name: Developmental and epileptic encephalopathy 99
def: "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE99 is an autosomal dominant form characterized by onset of seizures in early childhood." []
xref: MedGen:CN301233
xref: MeSH:D013036
xref: MIM:619606 "phenotype"
[Term]
id: DI-06266
name: Heterotaxy, visceral, 10, autosomal, with male infertility
def: "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX10 is an autosomal recessive form associated with male infertility." []
xref: MedGen:CN301171
xref: MeSH:D059446
xref: MIM:619607 "phenotype"
[Term]
id: DI-06267
name: Heterotaxy, visceral, 11, autosomal, with male infertility
def: "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX11 is an autosomal recessive form associated with male infertility due to reduced flagellar motility." []
xref: MedGen:CN301172
xref: MeSH:D059446
xref: MIM:619608 "phenotype"
[Term]
id: DI-06268
name: Interstitial lung disease 1
def: "A form of interstitial lung disease, a heterogeneous group of diseases affecting the distal part of the lung and characterized by a progressive remodeling of the alveolar interstitium. The disease spectrum ranges from idiopathic interstitial pneumonia or pneumonitis to idiopathic pulmonary fibrosis, that is associated with an increased risk of developing lung cancer. Clinical features of interstitial lung disease include dyspnea, clubbing of the fingers, and restrictive lung capacity. ILD1 inheritance can be autosomal dominant with incomplete penetrance, and autosomal recessive." []
xref: MedGen:CN304681
xref: MeSH:D054990
xref: MIM:619611 "phenotype"
[Term]
id: DI-06269
name: Delayed puberty, self-limited
def: "A condition defined as the absence of testicular enlargement in boys or breast development in girls at an age that is 2-2.5 SD later than the population mean. DPSL is often familial and is highly heritable, most commonly seen with an autosomal dominant inheritance pattern." []
synonym: "Constitutional delay of puberty" [UniProt]
xref: MedGen:CN301235
xref: MeSH:D011628
xref: MIM:619613 "phenotype"
[Term]
id: DI-06270
name: Retinitis pigmentosa 92
def: "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP92 is an autosomal recessive, mild form with onset of night blindness and vision loss in the third to sixth decades of life." []
xref: MedGen:CN301253
xref: MeSH:D012174
xref: MIM:619614 "phenotype"
[Term]
id: DI-06271
name: Deafness, autosomal recessive, 119
def: "A form of non-syndromic deafness characterized by mild to profound sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN304366
xref: MeSH:D006319
xref: MIM:619615 "phenotype"
[Term]
id: DI-06272
name: Neurodevelopmental disorder with hearing loss and spasticity
def: "An autosomal recessive neurodevelopmental disorder characterized by hearing loss, global developmental delay, impaired intellectual development, hypotonia, spastic-dystonic cerebral palsy, focal or generalized epilepsy, and microcephaly." []
xref: MedGen:CN304367
xref: MeSH:D065886
xref: MIM:619616 "phenotype"
[Term]
id: DI-06273
name: Spastic paraplegia 84, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG84 is characterized by onset of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity in the first 2 decades of life." []
xref: MedGen:CN304704
xref: MeSH:D015419
xref: MIM:619621 "phenotype"
[Term]
id: DI-06274
name: Immunodeficiency 88
def: "An autosomal recessive disorder characterized by the development of disseminated mycobacterial disease following vaccination with BCG. Clinical features included fever, lymphadenopathy, and cutaneous eruption." []
synonym: "Immunodeficiency 88, mycobacteriosis, autosomal recessive" [UniProt]
xref: MedGen:CN304965
xref: MeSH:D007153
xref: MIM:619630 "phenotype"
[Term]
id: DI-06275
name: Immunodeficiency 89 and autoimmunity
def: "An autosomal recessive disorder characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease." []
xref: MedGen:CN304966
xref: MeSH:D007153
xref: MIM:619632 "phenotype"
[Term]
id: DI-06276
name: Acromesomelic dysplasia 4
def: "A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD4 radiographic hallmarks include mild to moderate platyspondyly, moderate brachydactyly, iliac flaring, and metaphyseal alterations of the long bones that progressively increase with age. AMD4 inheritance is autosomal recessive." []
xref: MedGen:CN304774
xref: MeSH:D004392
xref: MIM:619636 "phenotype"
[Term]
id: DI-06277
name: Spondylometaphyseal dysplasia, Pagnamenta type
def: "A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDP is an autosomal recessive form characterized by short stature and mild platyspondyly with no disproportion between the limbs. Mild metaphyseal changes are present." []
xref: MedGen:CN304775
xref: MeSH:D010009
xref: MIM:619638 "phenotype"
[Term]
id: DI-06278
name: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
def: "An autosomal dominant disorder characterized by humoral immunodeficiency with undetectable B cells, distal limb anomalies, dysmorphic facial features, and urogenital malformations." []
synonym: "BILU syndrome" [UniProt]
synonym: "Hoffman syndrome" [UniProt]
xref: MedGen:C1836437
xref: MeSH:D000015
xref: MeSH:D007153
xref: MIM:609296 "phenotype"
[Term]
id: DI-06279
name: Dystonia 32
def: "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT32 is an autosomal recessive, slowly progressive form with onset in adulthood and generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia." []
xref: MedGen:CN304979
xref: MeSH:D004421
xref: MIM:619637 "phenotype"
[Term]
id: DI-06280
name: Loeys-Dietz syndrome 6
def: "A form of Loeys-Dietz syndrome, a syndrome with widespread systemic involvement characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Most LDS6 patients have thoracic aortic aneurysm involving the ascending aorta and/or aortic root, but cerebral and iliac arteries can be affected, and abdominal aortic aneurysm has been observed. Arterial tortuosity involving cerebral vessels, the aorta, and/or iliac arteries has also been reported. LDS6 inheritance is autosomal dominant." []
xref: MedGen:CN305191
xref: MeSH:D055947
xref: MIM:619656 "phenotype"
[Term]
id: DI-06281
name: Oocyte/zygote/embryo maturation arrest 11
def: "An autosomal recessive disorder characterized by decreased or absent fertility and poor embryonic outcomes with assisted reproductive technology." []
synonym: "Oocyte maturation defect 11" [UniProt]
synonym: "OOMD11" [UniProt]
xref: MedGen:CN305006
xref: MeSH:D007247
xref: MIM:619643 "phenotype"
[Term]
id: DI-06282
name: Hardikar syndrome
def: "An X-linked dominant, multiple congenital anomaly syndrome characterized by foregut malformations, intestinal malrotation, liver and biliary tract disease, genitourinary abnormalities, facial clefting, and pigmentary retinopathy. Some patients may have congenital cardiac defects or vascular abnormalities, including aortic coarctation and carotid/intracranial aneurysms. Neurodevelopment and cognition is normal." []
synonym: "Cholestasis with pigmentary retinopathy and cleft palate syndrome" [UniProt]
xref: MedGen:C0795969
xref: MeSH:D000015
xref: MIM:301068 "phenotype"
[Term]
id: DI-06283
name: Sd(a) polyagglutination syndrome
def: "A condition characterized by red blood cells agglutination upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory. SDPS depends on the strength of expression of the Sd(a) antigen on red blood cells. Most people have weak anti-Sd(a) antibodies in their serum, which is usually of no clinical importance, but can result in red cell agglutination if they are transfused with cells showing strong Sd(a) expression." []
xref: MedGen:CN305190
xref: MIM:615018 "phenotype"
[Term]
id: DI-06284
name: Neurodevelopmental disorder with hypotonia and gross motor and speech delay
def: "An autosomal recessive disorder characterized by severe global developmental delay apparent from infancy, axial hypotonia, limited or absent ability to walk, impaired intellectual development, and poor or absent speech. Additional features may include seizures, behavioral problems, distal skeletal anomalies, and facial dysmorphism." []
xref: MedGen:CN304980
xref: MeSH:D065886
xref: MIM:619639 "phenotype"
[Term]
id: DI-06285
name: Hengel-Maroofian-Schols syndrome
def: "An autosomal recessive disorder characterized by severe global developmental delay apparent from infancy or early childhood. Affected individuals have delayed walking or inability to walk, impaired intellectual development with poor or absent speech, lower limb spasticity, poor overall growth, and dysmorphic facial features. Some patients develop seizures. Brain imaging shows thinning of the posterior part of the corpus callosum, delayed myelination, and cerebral and cerebellar atrophy." []
synonym: "Neurodevelopmental disorder with spasticity, facial dysmorphism, and brain abnormalities" [UniProt]
xref: MedGen:CN305051
xref: MeSH:D065886
xref: MIM:619641 "phenotype"
[Term]
id: DI-06286
name: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia
def: "An autosomal recessive disorder characterized by severe global developmental delay, axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements." []
xref: MedGen:CN305152
xref: MeSH:D065886
xref: MIM:619651 "phenotype"
[Term]
id: DI-06287
name: Neurodevelopmental disorder, non-progressive, with spasticity and transient opisthotonus
def: "An autosomal recessive disorder characterized by delayed motor milestones, delayed walking, speech delay, axial hypotonia, and peripheral spasticity apparent from infancy or early childhood. Affected individuals often show transient opisthotonic posturing in infancy, and later show abnormal involuntary movements. Variably impaired intellectual development, and brain myelination defects are present in some patients." []
xref: MedGen:CN305249
xref: MeSH:D065886
xref: MIM:619653 "phenotype"
[Term]
id: DI-06288
name: Immunodeficiency 91 and hyperinflammation
def: "An autosomal recessive disorder characterized by immunodeficiency, recurrent infections, and hyperinflammation with systemic involvement. Most patients eventually develop hepatic or renal failure, may have compromised neurologic function, lymphadenopathy or hepatosplenomegaly. Early death often occurs due to multiorgan failure." []
xref: MedGen:CN305189
xref: MeSH:D007153
xref: MIM:619644 "phenotype"
[Term]
id: DI-06289
name: Dyskinesia with orofacial involvement, autosomal recessive
def: "An autosomal recessive disorder characterized by abnormal involuntary movements mainly affecting the limbs and causing walking difficulties, oro-facial dyskinesia, and speech delay. Some patients develop neuropsychiatric features. Cardiomyopathy has rarely been described and may be a manifestation of the disorder." []
xref: MedGen:CN305151
xref: MeSH:D020820
xref: MIM:619647 "phenotype"
[Term]
id: DI-06290
name: Zaki syndrome
def: "An autosomal recessive disorder characterized by developmental delay, progressive microcephaly, and short stature, as well as dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate. Other variable features have been observed, including ocular, skeletal, cardiac, and renal anomalies." []
xref: MedGen:CN305088
xref: MeSH:D000015
xref: MIM:619648 "phenotype"
[Term]
id: DI-06291
name: Immunodeficiency 92
def: "An autosomal recessive disorder characterized by recurrent bacterial, viral, fungal, or parasitic infections appearing in infancy or early childhood. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets." []
xref: MedGen:CN305208
xref: MeSH:D007153
xref: MIM:619652 "phenotype"
[Term]
id: DI-06292
name: Congenital heart defects, multiple types, 8, with or without heterotaxy
def: "An autosomal dominant disorder characterized by congenital developmental abnormalities involving structures of the heart. Common CHTD8 features include double-outlet right ventricle, unbalanced complete atrioventricular canal, and valvular anomalies. Vascular anomalies include dextroposition of the great arteries, anomalous pulmonary venous return, and superior vena cava to left atrium defect. Patients may also exhibit laterality defects, including dextrocardia, atrial isomerism, dextrogastria, left-sided gallbladder, and intestinal malrotation." []
xref: MedGen:CN305192
xref: MeSH:D006330
xref: MIM:619657 "phenotype"
[Term]
id: DI-06293
name: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
def: "An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. Some PFIC7 patients develop hearing loss in childhood." []
xref: MedGen:CN305244
xref: MeSH:D002780
xref: MeSH:D034381
xref: MIM:619658 "phenotype"
[Term]
id: DI-06294
name: Cholestasis, progressive familial intrahepatic, 8
def: "An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC8 onset is in early infancy." []
xref: MedGen:CN305247
xref: MeSH:D002780
xref: MIM:619662 "phenotype"
[Term]
id: DI-06295
name: Ovarian dysgenesis 9
def: "An autosomal recessive form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads." []
xref: MedGen:CN305248
xref: MeSH:D023961
xref: MIM:619665 "phenotype"
[Term]
id: DI-06296
name: Marbach-Schaaf neurodevelopmental syndrome
def: "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, speech delay, behavioral abnormalities, hypotonia, and movement disorders including dyspraxia, apraxia, and clumsiness. More variable features include high pain tolerance, sleep disturbances, and variable non-specific dysmorphic features." []
xref: MedGen:CN305324
xref: MeSH:D065886
xref: MIM:619680 "phenotype"
[Term]
id: DI-06297
name: Osteosclerotic metaphyseal dysplasia
def: "An autosomal recessive skeletal dysplasia characterized by osteosclerosis at multiple skeletal sites, predominantly at the metaphyses of the long bones and vertebral bodies." []
xref: MedGen:C3554665
xref: MeSH:D010026
xref: MIM:615198 "phenotype"
[Term]
id: DI-06298
name: Leukoencephalopathy, hereditary diffuse, with spheroids 2
def: "An autosomal dominant neurodegenerative disorder characterized by progressive cognitive and executive dysfunction, psychiatric disturbances, and neurologic symptoms, such as gait abnormalities, paresis, seizures, and rigidity. Symptom onset is usually in adulthood, although earlier onset has been reported. Some patients have an acute encephalopathic course with severe neurologic decline resulting in early death, whereas other patients have a more protracted and chronic disease course. Neuropathologic examination shows a leukoencephalopathy with axonal spheroids and myelination defects." []
synonym: "HDLS-S" [UniProt]
synonym: "Leukoencephalopathy, hereditary diffuse, with spheroids, Swedish type" [UniProt]
synonym: "Swedish type hereditary diffuse leukoencephalopathy with spheroids" [UniProt]
xref: MedGen:CN305734
xref: MeSH:D056784
xref: MIM:619661 "phenotype"
[Term]
id: DI-06299
name: Trichothiodystrophy 8, non-photosensitive
def: "A form of trichothiodystrophy, a disease characterized by sulfur- deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD8 is an autosomal recessive, non- photosensitive form characterized by brittle hair and nails, scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay." []
synonym: "Trichothiodystrophy 8, nonphotosensitive" [UniProt]
xref: MedGen:CN305738
xref: MeSH:D054463
xref: MIM:619691 "phenotype"
[Term]
id: DI-06300
name: Trichothiodystrophy 9, non-photosensitive
def: "A form of trichothiodystrophy, a disease characterized by sulfur- deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD9 is an autosomal recessive, non- photosensitive form characterized by brittle hair and nails, scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay." []
xref: MedGen:CN305739
xref: MeSH:D054463
xref: MIM:619692 "phenotype"
[Term]
id: DI-06301
name: Dystonia, early-onset, and/or spastic paraplegia
def: "An autosomal dominant, highly penetrant movement disorder characterized by spastic paraplegia and/or dystonia to varying degrees in affected individuals. Cognition is not affected. There is high intra- and interfamilial variability in phenotype and age of onset. Some patients have onset of progressive focal or generalized dystonia in the first decade, whereas others develop progressive spastic paraplegia as adults. Some affected individuals have manifestations of both disorders." []
xref: MedGen:CN305735
xref: MeSH:D015419
xref: MeSH:D020821
xref: MIM:619681 "phenotype"
[Term]
id: DI-06302
name: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis
def: "An autosomal recessive disorder with onset at birth, characterized by severe global developmental delay, profoundly impaired intellectual development, progressive microcephaly, seizures, and transient neonatal cholestasis. Brain imaging shows agenesis or hypoplasia of the corpus callosum. Death in early childhood may occur." []
xref: MedGen:CN305736
xref: MeSH:D065886
xref: MIM:619685 "phenotype"
[Term]
id: DI-06303
name: Spastic paraplegia 85, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG85 is an autosomal recessive form characterized by onset of motor symptoms in the first few years of life. Patients may have upper limb involvement and demonstrate axonal polyneuropathy. Additional features include optic atrophy, dysarthria, dysphagia, ataxia, and urinary incontinence. Brain imaging may show cerebellar atrophy." []
xref: MedGen:CN305737
xref: MeSH:D015419
xref: MIM:619686 "phenotype"
[Term]
id: DI-06304
name: Dystonia 33
def: "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT33 is a slowly progressive form characterized by onset of focal or generalized dystonia in the first decades of life. Disease manifestations are variable. Some patients show ambulation difficulties, dysarthria, or dysphagia. Some affected individuals may manifest motor delay, lower limb spasticity, and mild developmental delay with intellectual disability. DYT33 penetrance is incomplete. Inheritance can be autosomal dominant or recessive." []
xref: MedGen:CN305744
xref: MeSH:D004421
xref: MIM:619687 "phenotype"
[Term]
id: DI-06305
name: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
def: "An autosomal recessive neurodegenerative disorder with systemic manifestations. Affected individuals show delayed motor development and ataxic gait in early childhood that progresses to spastic paraplegia with loss of ambulation in the first decades of life. Additional features include progressive sensorineural hearing loss, hepatic dysfunction, and dilated cardiomyopathy. Death occurs in the first or second decades. Brain imaging shows hypomyelination, diffuse white matter abnormalities, and thin corpus callosum." []
xref: MedGen:CN305777
xref: MeSH:D020279
xref: MIM:619688 "phenotype"
[Term]
id: DI-06306
name: Spermatogenic failure 64
def: "An autosomal recessive male infertility disorder characterized by oligoasthenoteratozoospermia or non-obstructive azoospermia. Some patients have absent sperm due to meiotic arrest at the diplotene stage. Others show low sperm counts and reduced progressive motility." []
xref: MedGen:CN305740
xref: MeSH:D007248
xref: MIM:619696 "phenotype"
[Term]
id: DI-06307
name: Spermatogenic failure 65
def: "An autosomal recessive male infertility disorder characterized by asthenoteratozoospermia. Progressive sperm motility is severely reduced or absent due to multiple morphologic abnormalities of the flagella." []
xref: MedGen:CN306027
xref: MeSH:D007248
xref: MIM:619712 "phenotype"
[Term]
id: DI-06308
name: Brunet-Wagner neurodevelopmental syndrome
def: "An autosomal recessive disorder characterized by severe developmental delay, intellectual disability, poor or absent speech, infantile hypotonia, inability to walk, behavioral abnormalities, and dysmorphic features." []
xref: MedGen:CN305745
xref: MeSH:D065886
xref: MIM:619690 "phenotype"
[Term]
id: DI-06309
name: Agammaglobulinemia 9, autosomal recessive
def: "A form of agammaglobulinemia, a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life." []
synonym: "Agammaglobulinemia, autosomal recessive, due to SLC39A7 defect" [UniProt]
xref: MedGen:CN305778
xref: MeSH:D000361
xref: MIM:619693 "phenotype"
[Term]
id: DI-06310
name: Agammaglobulinemia 10, autosomal dominant
def: "A form of agammaglobulinemia, a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life." []
synonym: "Agammaglobulinemia, autosomal dominant, due to SPI1 defect" [UniProt]
xref: MedGen:CN306197
xref: MeSH:D000361
xref: MIM:619707 "phenotype"
[Term]
id: DI-06311
name: Developmental delay with variable neurologic and brain abnormalities
def: "An autosomal dominant disorder characterized by onset of motor and speech delay in early childhood. Disease severity and clinical manifestations are highly variable. Most patients have delayed walking and variably impaired intellectual development. Additional features may include seizures, spasticity, and ocular abnormalities. Brain imaging often shows thin corpus callosum and may show white matter atrophy, myelination abnormalities, or enlarged ventricles." []
xref: MedGen:CN305919
xref: MeSH:D065886
xref: MIM:619694 "phenotype"
[Term]
id: DI-06312
name: Rauch-Steindl syndrome
def: "An autosomal dominant disorder characterized by poor pre- and postnatal growth, facial dysmorphism, and variable developmental delay with delayed motor and speech acquisition and impaired intellectual. Other features may include hypotonia and behavioral abnormalities." []
xref: MedGen:CN305780
xref: MeSH:D065886
xref: MIM:619695 "phenotype"
[Term]
id: DI-06313
name: Oocyte/zygote/embryo maturation arrest 12
def: "An autosomal recessive disorder characterized by infertility due to early embryonic arrest." []
synonym: "Oocyte maturation defect 12" [UniProt]
synonym: "OOMD12" [UniProt]
xref: MedGen:CN305741
xref: MeSH:D007247
xref: MIM:619697 "phenotype"
[Term]
id: DI-06314
name: Mucopolysaccharidosis 10
def: "A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPS10 is an autosomal recessive childhood-onset disorder. Clinical features include disproportionate short-trunk short stature and skeletal, cardiac, and ophthalmologic abnormalities." []
synonym: "ARSK deficiency" [UniProt]
synonym: "Arylsulfatase K deficiency" [UniProt]
synonym: "Mucopolysaccharidosis, type X" [UniProt]
xref: MedGen:CN305743
xref: MeSH:D009083
xref: MIM:619698 "phenotype"
[Term]
id: DI-06315
name: Ferguson-Bonni neurodevelopmental syndrome
def: "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, and hypotonia with early motor delay. Additional features may include dysmorphic facies, mild skeletal abnormalities, and hearing loss." []
xref: MedGen:CN305921
xref: MeSH:D065886
xref: MIM:619699 "phenotype"
[Term]
id: DI-06316
name: Yoon-Bellen neurodevelopmental syndrome
def: "An autosomal recessive disorder characterized by global developmental delay, and variably impaired intellectual development. Additional variable features may include hypotonia, spasticity, ataxia, hearing loss, visual problems, seizures, and non-specific anomalies on brain imaging." []
xref: MedGen:CN305922
xref: MeSH:D065886
xref: MIM:619701 "phenotype"
[Term]
id: DI-06317
name: Immunodeficiency 93 and hypertrophic cardiomyopathy
def: "An autosomal recessive disorder characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life." []
xref: MedGen:CN306132
xref: MeSH:D007153
xref: MIM:619705 "phenotype"
[Term]
id: DI-06318
name: Gastrointestinal defects and immunodeficiency syndrome 2
def: "A severe autosomal recessive disorder characterized by multiple intestinal atresia apparent soon after birth. Affected infants have a distended abdomen, bowel obstruction and do not pass meconium. There is some evidence of inflammatory bowel disease. Death occurs in the first weeks of life. Some patients may also have immunodeficiency." []
synonym: "Multiple intestinal atresia with or without leukopenia" [UniProt]
xref: MedGen:CN306133
xref: MeSH:D007409
xref: MIM:619708 "phenotype"
[Term]
id: DI-06319
name: Congenital disorder of glycosylation 1W, autosomal dominant
def: "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1WAD patients show variable skeletal anomalies, short stature, macrocephaly, and dysmorphic features. Some have impaired intellectual development. Additional features include increased muscle tone and muscle cramps." []
synonym: "Congenital disorder of glycosylation, type Iw, autosomal dominant" [UniProt]
xref: MedGen:CN306031
xref: MeSH:D018981
xref: MIM:619714 "phenotype"
[Term]
id: DI-06320
name: Intellectual developmental disorder, autosomal recessive 73
def: "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT73 patients manifest global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features." []
xref: MedGen:CN306203
xref: MeSH:D008607
xref: MIM:619717 "phenotype"
[Term]
id: DI-06321
name: Hypogonadotropic hypogonadism 26 with or without anosmia
def: "A form of hypogonadotropic hypogonadism, a group of disorders characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone, and no other abnormalities of the hypothalamic- pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). HH26 is characterized by micropenis and cryptorchidism at birth in male patients, and absent puberty and anosmia in male or female patients. Some affected individuals also exhibit craniosynostosis. Inheritance can be autosomal dominant or autosomal recessive." []
xref: MedGen:CN306196
xref: MeSH:D017436
xref: MIM:619718 "phenotype"
[Term]
id: DI-06322
name: Intellectual disability and myopathy syndrome
def: "An autosomal recessive disorder characterized by global developmental delay, mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and white matter abnormalities on brain imaging. Variable additional features may include sensorineural hearing loss, dysmorphic facies, and progressive heart disease." []
xref: MedGen:CN306199
xref: MeSH:D065886
xref: MIM:619719 "phenotype"
[Term]
id: DI-06323
name: Dystonia 34, myoclonic
def: "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT34 is an autosomal dominant form characterized by childhood-onset dystonia predominantly affecting hands and neck, with a fast tremor with superimposed myoclonus and, in some individuals, subtle cerebellar signs." []
xref: MedGen:CN306202
xref: MeSH:D004421
xref: MIM:619724 "phenotype"
[Term]
id: DI-06324
name: Neurodevelopmental disorder with or without variable movement or behavioral abnormalities
def: "An autosomal dominant disorder characterized by motor and language developmental delay, intellectual disability often associated with early-onset movement disorders comprising cerebellar ataxia and/or extrapyramidal symptoms. Other variable features include autism spectrum disorder or autistic features and epilepsy." []
xref: MedGen:CN306201
xref: MeSH:D065886
xref: MIM:619725 "phenotype"
[Term]
id: DI-06325
name: Craniotubular dysplasia, Ikegawa type
def: "An autosomal recessive, sclerosing bone disorder characterized by proportional or short-limbed short stature in association with macrocephaly, dolichocephaly, or prominent forehead. Radiography shows hyperostosis of the calvaria and skull base, with metadiaphyseal undermodeling of the long tubular bones and mild shortening and diaphyseal broadening of the short tubular bones. Affected individuals experience progressive vision loss in the first decade of life due to optic nerve compression, and deafness may develop in the second decade of life." []
xref: MedGen:CN306204
xref: MeSH:D001847
xref: MIM:619727 "phenotype"
[Term]
id: DI-06326
name: Thrombophilia 13, X-linked, due to factor VIII defect
def: "An X-linked dominant, hemostatic disorder associated with markedly elevated F8 levels, and characterized by severe thrombophilia." []
xref: MedGen:CN306820
xref: MeSH:D019851
xref: MIM:301071 "phenotype"
[Term]
id: DI-06327
name: Bryant-Li-Bhoj neurodevelopmental syndrome 1
def: "An autosomal dominant disorder predominantly characterized by global developmental delay, impaired intellectual development, poor or absent speech, and delayed motor milestones. Clinical manifestations are highly variable, including abnormal head shape, dysmorphic facial features, oculomotor abnormalities, feeding problems, and non-specific brain imaging abnormalities. Additional features may include hearing loss, seizures, short stature, and mild skeletal defects." []
xref: MedGen:CN306229
xref: MeSH:D065886
xref: MIM:619720 "phenotype"
[Term]
id: DI-06328
name: Bryant-Li-Bhoj neurodevelopmental syndrome 2
def: "An autosomal dominant disorder predominantly characterized by global developmental delay, impaired intellectual development, poor or absent speech, and delayed motor milestones. Clinical manifestations are highly variable, including abnormal head shape, dysmorphic facial features, oculomotor abnormalities, feeding problems, and non-specific brain imaging abnormalities. Additional features may include hearing loss, seizures, short stature, and mild skeletal defects." []
xref: MedGen:CN306230
xref: MeSH:D065886
xref: MIM:619721 "phenotype"
[Term]
id: DI-06329
name: Inclusion body myopathy and brain white matter abnormalities
def: "An autosomal dominant, adult-onset disorder characterized predominantly by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging. Additional features may include dysarthria, dysphagia, low back pain, and hyporeflexia. Muscle biopsy shows fiber type variation, internal nuclei, rimmed vacuoles, and cytoplasmic protein aggregates or inclusions. Cognitive impairment or frontotemporal dementia occurs in some patients." []
synonym: "MSP6" [UniProt]
synonym: "Multisystem proteinopathy 6" [UniProt]
xref: MedGen:CN306476
xref: MeSH:D018979
xref: MeSH:D049288
xref: MeSH:D057180
xref: MIM:619733 "phenotype"
[Term]
id: DI-06330
name: Spastic paraplegia 86, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG86 is an autosomal recessive form associated with impaired intellectual development, poor or absent speech, and behavioral abnormalities. Brain imaging shows thin corpus callosum and white matter abnormalities. Rare patients may have seizures." []
xref: MedGen:CN306413
xref: MeSH:D015419
xref: MIM:619735 "phenotype"
[Term]
id: DI-06331
name: Teebi hypertelorism syndrome 2
def: "A form of Teebi hypertelorism syndrome, a syndrome characterized by an abnormally increased distance between ocular orbits, and facial features that can resemble craniofrontonasal dysplasia such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin. Some affected individuals have limb, urogenital, umbilical and cardiac defects. Developmental delay and/or impaired intellectual development have been observed in some patients. TBHS2 inheritance is autosomal dominant." []
xref: MedGen:CN306231
xref: MeSH:D006972
xref: MIM:619736 "phenotype"
[Term]
id: DI-06332
name: Combined oxidative phosphorylation deficiency 54
def: "An autosomal recessive, multisystem disorder with highly variable manifestations resulting from defective mitochondrial transcription and translation. Clinical features include early-onset sensorineural hearing loss, sometimes associated with global developmental delay or primary ovarian failure, peripheral hypertonia, seizures, muscle weakness, behavioral abnormalities, and leukoencephalopathy on brain imaging. Serum lactate may or may not be elevated." []
xref: MedGen:CN306409
xref: MeSH:D028361
xref: MIM:619737 "phenotype"
[Term]
id: DI-06333
name: Combined oxidative phosphorylation deficiency 55
def: "A mitochondrial disease characterized by global developmental delay, hypotonia, short stature, and impaired intellectual development with speech disabilities in childhood. Indolent progressive external ophthalmoplegia may be present in some patients. COXPD55 transmission pattern is consistent with autosomal dominant inheritance in some families, and with autosomal recessive inheritance in others." []
xref: MedGen:CN306435
xref: MeSH:D028361
xref: MIM:619743 "phenotype"
[Term]
id: DI-06334
name: Parkinsonism-dystonia 3, childhood-onset
def: "An autosomal recessive neurodegenerative disorder with onset in infancy or early childhood. Affected individuals present with progressive movement abnormalities, including parkinsonism with tremor, dystonia, myoclonus ataxia, and hyperkinetic movements such as ballismus. The parkinsonism features may be responsive to treatment with levodopa, although many patients develop levodopa-induced dyskinesia. Some patients may have mild cognitive impairment or psychiatric disturbances." []
xref: MedGen:CN306512
xref: MeSH:D004421
xref: MeSH:D020734
xref: MIM:619738 "phenotype"
[Term]
id: DI-06335
name: Charcot-Marie-Tooth disease, demyelinating, 1I
def: "An autosomal dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1I is characterized predominantly by delayed motor development in the first years of life associated with gait abnormalities, sensory ataxia, hyporeflexia, and distal sensory impairment due to a sensorimotor peripheral neuropathy that mainly affects the lower limbs. The disorder is progressive, and some may have upper limb involvement. A subset of patients has central nervous system involvement that manifests as global developmental delay with impaired intellectual development and speech difficulties." []
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1I" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy, type 1I" [UniProt]
xref: MedGen:CN306474
xref: MeSH:D002607
xref: MIM:619742 "phenotype"
[Term]
id: DI-06336
name: Charcot-Marie-Tooth disease, demyelinating, 1H
def: "An autosomal dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1H is characterized by peripheral sensorimotor neuropathy with onset usually in adulthood. Affected individuals present with foot deformities, upper or lower limb sensory disturbances, and motor deficits, mainly impaired gait. Rare patients may have hyperelastic skin or develop age-related macular degeneration." []
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1H" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy, type 1H" [UniProt]
synonym: "Hereditary motor and sensory neuropathy, IH" [UniProt]
synonym: "HNARMD" [UniProt]
synonym: "Neuropathy, hereditary, with or without age-related macular degeneration" [UniProt]
xref: MedGen:CN306957
xref: MeSH:D002607
xref: MIM:619764 "phenotype"
[Term]
id: DI-06337
name: Epidermolysis bullosa, junctional 2A, intermediate
def: "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB2A is an autosomal recessive, intermediate form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. In intermediate forms of junctional epidermolysis bullosa, blistering does not lead to the formation of chronic granulation tissue and does not affect the lifespan of affected individuals. Nail dystrophy and dental enamel defects are present. Scarring or non-scarring alopecia and diffuse hair loss may occur." []
synonym: "Epidermolysis bullosa, junctional 2A, generalized intermediate" [UniProt]
synonym: "Epidermolysis bullosa, junctional 2A, non-Herlitz type" [UniProt]
xref: MedGen:CN307699
xref: MeSH:D016109
xref: MIM:619783 "phenotype"
[Term]
id: DI-06338
name: Epidermolysis bullosa, junctional 2B, severe
def: "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB2B is an autosomal recessive form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. It belongs to the severe spectrum of junctional epidermolysis bullosa (previously known as generalized severe or Herlitz type), characterized by onset of blistering over large regions of the body at birth or in early infancy. Blistering also affects the mucous membranes, such as the moist lining of the mouth and digestive tract, which can make it difficult to eat and digest food. The extensive blistering leads to scarring and the formation of red, bumpy patches called granulation tissue. Other complications can include fusion of the fingers and toes, abnormalities of the fingernails and toenails, joint deformities, dental enamel defects, and alopecia. Severe, junctional forms are associated with death in the first 6 to 24 months of life." []
synonym: "Epidermolysis bullosa, junctional 2B, generalized severe" [UniProt]
synonym: "Epidermolysis bullosa, junctional 2B, Herlitz type" [UniProt]
xref: MedGen:CN307700
xref: MeSH:D016109
xref: MIM:619784 "phenotype"
[Term]
id: DI-06339
name: Epidermolysis bullosa, junctional 3B, severe
def: "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB3B is an autosomal recessive form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. It belongs to the severe spectrum of junctional epidermolysis bullosa (previously known as generalized severe or Herlitz type), characterized by onset of blistering over large regions of the body at birth or in early infancy. Blistering also affects the mucous membranes, such as the moist lining of the mouth and digestive tract, which can make it difficult to eat and digest food. The extensive blistering leads to scarring and the formation of red, bumpy patches called granulation tissue. Other complications can include fusion of the fingers and toes, abnormalities of the fingernails and toenails, joint deformities, dental enamel defects, and alopecia. Severe, junctional forms are associated with death in the first 6 to 24 months of life." []
synonym: "Epidermolysis bullosa, junctional 3B, generalized severe" [UniProt]
synonym: "Epidermolysis bullosa, junctional 3B, Herlitz type" [UniProt]
xref: MedGen:CN307702
xref: MeSH:D016109
xref: MIM:619786 "phenotype"
[Term]
id: DI-06340
name: Epidermolysis bullosa, junctional 3A, intermediate
def: "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB3A is an autosomal recessive, intermediate form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. In intermediate forms of junctional epidermolysis bullosa, blistering does not lead to the formation of chronic granulation tissue and does not affect the lifespan of affected individuals. Nail dystrophy and dental enamel defects are present. Scarring or non-scarring alopecia and diffuse hair loss may occur." []
synonym: "Epidermolysis bullosa, junctional 3A, generalized intermediate" [UniProt]
synonym: "Epidermolysis bullosa, junctional 3A, non-Herlitz type" [UniProt]
xref: MedGen:CN307701
xref: MeSH:D016109
xref: MIM:619785 "phenotype"
[Term]
id: DI-06341
name: Epidermolysis bullosa, junctional 4, intermediate
def: "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB4 is an autosomal recessive, intermediate form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. In intermediate forms of junctional epidermolysis bullosa, blistering does not lead to the formation of chronic granulation tissue and does not affect the lifespan of affected individuals. Nail dystrophy and dental enamel defects are present. Scarring or non-scarring alopecia and diffuse hair loss may occur. JEB4 patients manifest blisters at birth or shortly afterward. Blisters may heal with atrophic scarring and variable hypo- or hyperpigmentation. Oral mucosa may be involved." []
synonym: "Epidermolysis bullosa, generalized atrophic benign" [UniProt]
synonym: "Epidermolysis bullosa, junctional 4, non-Herlitz type" [UniProt]
synonym: "Epidermolysis bullosa, junctional, localisata variant" [UniProt]
synonym: "GABEB" [UniProt]
xref: MedGen:CN307703
xref: MeSH:D016109
xref: MIM:619787 "phenotype"
[Term]
id: DI-06342
name: Epidermolysis bullosa, junctional 5A, intermediate
def: "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB5A is an autosomal recessive, intermediate form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. In intermediate forms of junctional epidermolysis bullosa, blistering does not lead to the formation of chronic granulation tissue and does not affect the lifespan of affected individuals. Nail dystrophy and dental enamel defects are present. Scarring or non-scarring alopecia and diffuse hair loss may occur." []
synonym: "Epidermolysis bullosa, junctional 5A, generalized intermediate" [UniProt]
synonym: "Epidermolysis bullosa, junctional 5A, non-Herlitz type" [UniProt]
xref: MedGen:CN307704
xref: MeSH:D016109
xref: MIM:619816 "phenotype"
[Term]
id: DI-06343
name: Epidermolysis bullosa, junctional 6, with pyloric atresia
def: "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB6 is an autosomal recessive form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. Clinical manifestations include severe blistering, atrophic scarring, nail dystrophy, and pyloric atresia. Congenital absence of skin (aplasia cutis congenita) is common, and ear anomalies are also relatively common. Disease course is usually severe and often lethal in the neonatal period." []
xref: MedGen:CN307705
xref: MeSH:D016109
xref: MIM:619817 "phenotype"
[Term]
id: DI-06344
name: Noonan syndrome 14
def: "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. NS14 inheritance is autosomal recessive." []
xref: MedGen:CN306436
xref: MeSH:D009634
xref: MIM:619745 "phenotype"
[Term]
id: DI-06345
name: Cardiomyopathy, dilated, 2F
def: "A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2F is an autosomal recessive, early-onset form." []
xref: MedGen:CN306446
xref: MeSH:D002311
xref: MIM:619747 "phenotype"
[Term]
id: DI-06346
name: Immunodeficiency 94 with autoinflammation and dysmorphic facies
def: "An autosomal dominant disorder characterized by onset in early infancy, lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features." []
xref: MedGen:CN306774
xref: MeSH:D007153
xref: MIM:619750 "phenotype"
[Term]
id: DI-06347
name: Stuve-Wiedemann syndrome 2
def: "A form of Stuve-Wiedemann syndrome, an autosomal recessive disease characterized by bowing of tubular bones and other skeletal and craniofacial abnormalities, respiratory distress, feeding difficulties, and hyperthermic episodes. Most patients do not survive past infancy. STWS2 patients manifest skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response." []
xref: MedGen:CN306477
xref: MeSH:D010009
xref: MeSH:D054969
xref: MIM:619751 "phenotype"
[Term]
id: DI-06348
name: Hyper-IgE syndrome 4A, autosomal dominant, with recurrent infections
def: "An immunologic disorder characterized by recurrent mainly sino- pulmonary infections associated with increased serum IgE. Some patients have onset of symptoms in early childhood and develop complications, including bronchiectasis or hemoptysis, whereas others have later onset of less severe infections. Immunologic workup usually shows normal leukocyte levels, although some patients may demonstrate alterations in lymphocyte subsets, including T cells. Affected individuals also have variable skeletal abnormalities, including high- arched palate, hyperextensible joints, scoliosis, and bone fractures." []
synonym: "Hyper-IgE recurrent infection syndrome 4A, autosomal dominant" [UniProt]
xref: MedGen:CN306775
xref: MeSH:D007589
xref: MIM:619752 "phenotype"
[Term]
id: DI-06349
name: Hypogonadotropic hypogonadism 27 without anosmia
def: "A form of hypogonadotropic hypogonadism, a group of disorders characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone, and no other abnormalities of the hypothalamic- pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). HH27 is an autosomal recessive normosmic form characterized by lack of pubertal development associated with onset of obesity in early adolescence." []
xref: MedGen:CN306632
xref: MeSH:D017436
xref: MIM:619755 "phenotype"
[Term]
id: DI-06350
name: Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 1
def: "An autosomal dominant disorder with onset in infancy, characterized by poor overall growth, microcephaly, hypotonia, profound global developmental delay, impaired intellectual development, poor or absent speech, and characteristic dysmorphic facial features, including hypertelorism and abnormal nose. Other variable neurologic and systemic features may also occur." []
xref: MedGen:CN306733
xref: MeSH:D065886
xref: MIM:619758 "phenotype"
[Term]
id: DI-06351
name: Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 2
def: "An autosomal dominant disorder characterized by poor overall growth, microcephaly, hypotonia, profound global developmental delay, impaired intellectual development, absent speech, and characteristic dysmorphic facial features, including hypertelorism, abnormal nose, and wide mouth." []
xref: MedGen:CN306735
xref: MeSH:D065886
xref: MIM:619759 "phenotype"
[Term]
id: DI-06352
name: Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
def: "An autosomal recessive disorder characterized by delayed motor development, ataxia with cerebellar hypoplasia, severe progressive scoliosis, moderate to severe intellectual disability, and delayed puberty with congenital hypogonadotropic hypogonadism." []
xref: MedGen:CN306734
xref: MeSH:D002526
xref: MeSH:D007006
xref: MeSH:D008607
xref: MIM:619761 "phenotype"
[Term]
id: DI-06353
name: Kury-Isidor syndrome
def: "An autosomal dominant neurodevelopmental disorder characterized mainly by mild global developmental delay apparent from infancy or early childhood, and behavioral problems, including autism in most patients. Intellectual development may be mildly delayed, borderline, or even normal. Additional variable systemic features may include poor overall growth, hypotonia, distal skeletal anomalies, seizures, and non- specific dysmorphic facial features." []
xref: MedGen:CN306819
xref: MeSH:D065886
xref: MIM:619762 "phenotype"
[Term]
id: DI-06354
name: Craniofacial microsomia 1
def: "A form of craniofacial microsomia, a disorder characterized by a spectrum of craniofacial malformations ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or facial nerve. CFM1 is an autosomal dominant form characterized by mandibular hypoplasia, microtia, facial and preauricular skin tags, epibulbar dermoids, and lateral oral clefts. Affected individuals also present skeletal and cardiac abnormalities." []
synonym: "Facio-auriculo-vertebral spectrum" [UniProt]
synonym: "Facioauriculovertebral sequence" [UniProt]
synonym: "FAV sequence" [UniProt]
synonym: "Goldenhar syndrome" [UniProt]
synonym: "Hemifacial microsomia" [UniProt]
synonym: "HFM" [UniProt]
synonym: "OAV dysplasia" [UniProt]
synonym: "OAVS" [UniProt]
synonym: "Oculo-auriculo-vertebral spectrum" [UniProt]
synonym: "Oculoauricular vertebral dysplasia" [UniProt]
synonym: "Oculoauriculovertebral spectrum" [UniProt]
xref: MedGen:C0265240
xref: MeSH:D006053
xref: MIM:164210 "phenotype"
[Term]
id: DI-06355
name: Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 6
def: "An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length." []
xref: MedGen:CN306958
xref: MeSH:D000080983
xref: MeSH:D011658
xref: MIM:619767 "phenotype"
[Term]
id: DI-06356
name: Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
def: "An autosomal dominant disease characterized by pharyngeal lymphoid hypertrophy, with adenoid overgrowth, sleep apnea, macrocephaly without structural brain abnormalities, and impaired intellectual development. An increased fraction of fetal hemoglobin has been observed in some patients." []
xref: MedGen:CN306945
xref: MeSH:D065886
xref: MIM:619769 "phenotype"
[Term]
id: DI-06357
name: Myopia 28, autosomal recessive
def: "A form of myopia, a refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. MYP28 patients are affected by early-onset high myopia in the first decade of life. Retinal detachment may occur, and early-onset cataract has been reported." []
xref: MedGen:CN306975
xref: MeSH:D009216
xref: MIM:619781 "phenotype"
[Term]
id: DI-06358
name: Immunodeficiency 95
def: "An autosomal recessive disorder characterized by the onset of recurrent and severe viral respiratory infections in infancy or early childhood, and impaired interferon production during viral infection." []
xref: MedGen:CN306973
xref: MeSH:D007153
xref: MIM:619773 "phenotype"
[Term]
id: DI-06359
name: Immunodeficiency 96
def: "An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis." []
xref: MedGen:CN306974
xref: MeSH:D007153
xref: MIM:619774 "phenotype"
[Term]
id: DI-06360
name: Congenital disorder of deglycosylation 2
def: "An autosomal recessive disorder characterized by facial dysmorphism, congenital anomalies such as tongue hamartoma, variable degrees of intellectual disability, and brain anomalies including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis." []
xref: MedGen:CN306959
xref: MeSH:D002239
xref: MIM:619775 "phenotype"
[Term]
id: DI-06361
name: Developmental and epileptic encephalopathy 100
def: "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE100 is an autosomal dominant, severe form characterized by global developmental delay and onset of variable types of seizures in the first months or years of life." []
xref: MedGen:CN307030
xref: MeSH:D013036
xref: MIM:619777 "phenotype"
[Term]
id: DI-06362
name: Mitochondrial DNA depletion syndrome 20, MNGIE type
def: "An autosomal recessive mitochondrial disorder characterized by severe gut dysmotility, muscle weakness and atrophy, neurological abnormalities including epilepsy, migraine, stroke-like episodes, learning difficulties or cognitive decline, and neurogenic bladder. Brain imaging usually shows diffuse leukoencephalopathy and may show cerebellar atrophy. Disease onset can range from infancy to the teenage years." []
synonym: "Mitochondrial neurogastrointestinal encephalomyopathy syndrome, LIG3-related" [UniProt]
xref: MedGen:CN307037
xref: MeSH:D017237
xref: MIM:619780 "phenotype"
[Term]
id: DI-06363
name: Anemia, congenital dyserythropoietic, 3A
def: "An autosomal dominant blood disorder characterized by ineffective erythropoiesis, hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow." []
synonym: "Anemia with multinucleated erythroblasts erythroreticulosis, hereditary benign" [UniProt]
synonym: "Anemia, congenital dyserythropoietic, type III" [UniProt]
synonym: "Anemia, congenital dyserythropoietic, type IIIA" [UniProt]
synonym: "CDA, type IIIA" [UniProt]
synonym: "CDAN3" [UniProt]
synonym: "Dyserythropoietic anemia, congenital, type IIIA" [UniProt]
xref: MedGen:C0271934
xref: MeSH:D000742
xref: MIM:105600 "phenotype"
[Term]
id: DI-06364
name: Anemia, congenital dyserythropoietic, 3B, autosomal recessive
def: "An autosomal recessive blood disorder characterized by marked dyserythropoiesis, hemolytic anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts in the bone marrow." []
xref: MedGen:CN307040
xref: MeSH:D000742
xref: MIM:619789 "phenotype"
[Term]
id: DI-06365
name: Oculopharyngodistal myopathy 4
def: "A form of oculopharyngodistal myopathy, a muscle disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles in the muscle fibers and myopathic changes of differing severity. OPDM4 is an autosomal dominant form characterized by slow progression and onset of symptoms in the second or third decades." []
xref: MedGen:CN307058
xref: MeSH:D039141
xref: MIM:619790 "phenotype"
[Term]
id: DI-06366
name: Restrictive dermopathy 2
def: "An autosomal dominant form of restrictive dermopathy, a genodermatosis mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial dysmorphism, sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life." []
synonym: "Restrictive dermopathy 2 , lethal" [UniProt]
xref: MedGen:CN307038
xref: MeSH:D012868
xref: MIM:619793 "phenotype"
[Term]
id: DI-06367
name: Osteogenesis imperfecta 22
def: "An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI22 is a severe form of the disease." []
synonym: "Osteogenesis imperfecta, type XXII" [UniProt]
xref: MedGen:CN307041
xref: MeSH:D010013
xref: MIM:619795 "phenotype"
[Term]
id: DI-06368
name: Neurodevelopmental disorder with central hypotonia and dysmorphic facies
def: "An autosomal dominant disease characterized by global developmental delay, impaired intellectual development, seizures, distinctive facial features, scoliosis, delayed closure of the anterior fontanel, and non-specific brain abnormalities." []
xref: MedGen:CN307059
xref: MeSH:D065886
xref: MIM:619797 "phenotype"
[Term]
id: DI-06369
name: Spermatogenic failure 66
def: "An autosomal recessive male infertility disorder characterized by globozoospermia. Affected individuals have a normal sperm count, but spermatozoa are round-headed and lack the acrosome. In addition to pure globozoospermia, some patients have a mixture of acrosomeless spermatozoa and spermatozoa with small or detached acrosomes, which is defined as acrosomal hypoplasia." []
xref: MedGen:CN307060
xref: MeSH:D007248
xref: MIM:619799 "phenotype"
[Term]
id: DI-06370
name: Spermatogenic failure 67
def: "An autosomal recessive male infertility disorder characterized by globozoospermia. Affected individuals have a normal sperm count, but spermatozoa are round-headed and lack the acrosome. In addition to pure globozoospermia, some patients have a mixture of acrosomeless spermatozoa and spermatozoa with small or detached acrosomes, which is defined as acrosomal hypoplasia." []
xref: MedGen:CN307171
xref: MeSH:D007248
xref: MIM:619803 "phenotype"
[Term]
id: DI-06371
name: Spermatogenic failure 68
def: "An autosomal recessive male infertility disorder characterized by globozoospermia. Affected individuals have a normal sperm count, but spermatozoa are round-headed and lack the acrosome. In addition to pure globozoospermia, some patients have a mixture of acrosomeless spermatozoa and spermatozoa with small or detached acrosomes, which is defined as acrosomal hypoplasia." []
xref: MedGen:CN307172
xref: MeSH:D007248
xref: MIM:619805 "phenotype"
[Term]
id: DI-06372
name: Deafness, autosomal dominant, 82
def: "A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DNFA82 is characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade." []
xref: MedGen:CN307254
xref: MeSH:D006319
xref: MIM:619804 "phenotype"
[Term]
id: DI-06373
name: Developmental and epileptic encephalopathy 101
def: "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE101 is an autosomal recessive, severe form characterized by onset of seizures in early infancy. Death in infancy may occur." []
xref: MedGen:CN307272
xref: MeSH:D013036
xref: MIM:619814 "phenotype"
[Term]
id: DI-06374
name: Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
def: "An autosomal recessive disease characterized by visual impairment due to rod-cone dystrophy, sensorineural hearing loss, and Fanconi-type renal dysfunction resulting in rickets-like skeletal changes. Death may occur in childhood or young adulthood due to renal failure. Disease onset is before age 5 years." []
xref: MedGen:C1849333
xref: MeSH:D006319
xref: MeSH:D015499
xref: MeSH:D058499
xref: MIM:268315 "phenotype"
[Term]
id: DI-06375
name: Intellectual developmental disorder, FRA12A type
def: "An autosomal dominant disorder characterized by impaired intellectual development with or without other anomalies, in association with a folate-sensitive chromosomal fragile site at 12q13. Main features are global developmental delay, significant learning disability, epileptic seizures, and behavioral problems. The disorder can be inherited without phenotypic effects." []
synonym: "Intellectual developmental disorder, autosomal dominant, FRA12A type" [UniProt]
xref: MedGen:C1969893
xref: MeSH:D038901
xref: MIM:136630 "phenotype"
[Term]
id: DI-06376
name: Neurodevelopmental disorder with epilepsy and hemochromatosis
def: "An X-liked recessive disorder characterized by severe developmental delay, intellectual disability, early-onset epilepsy, and early systemic iron overload resulting in juvenile-onset hemochromatosis. Variable additional features may include joint contractures, visual or hearing impairment, and skin abnormalities." []
synonym: "FCCS" [UniProt]
synonym: "Ferro-cerebro-cutaneous syndrome" [UniProt]
xref: MedGen:CN307964
xref: MeSH:D065886
xref: MIM:301072 "phenotype"
[Term]
id: DI-06377
name: Autoinflammatory syndrome, familial, X-linked, Behcet-like 2
def: "An X-linked recessive, autoinflammatory disorder characterized by ulceration of the oral mucosa and skin inflammation. Additional variable features may include gastrointestinal ulceration, arthritis, recurrent fevers, and iron deficiency anemia. Disease onset is in early childhood." []
synonym: "Deficiency in ELF4, X-linked" [UniProt]
synonym: "DEX" [UniProt]
xref: MedGen:CN307999
xref: MeSH:D056660
xref: MIM:301074 "phenotype"
[Term]
id: DI-06378
name: Myopathy, distal, 7, adult-onset, X-linked
def: "An X-linked recessive, slowly progressive muscular disorder characterized by adult onset of distal muscle weakness predominantly, affecting the lower limbs. Some patients also have proximal muscle weakness. Histopathological and electron microscopic analysis of patient muscle biopsies reveals myopathic findings with rimmed vacuoles and the presence of sarcoplasmic inclusions, some with amyloid-like characteristics." []
xref: MedGen:CN308192
xref: MeSH:D009135
xref: MIM:301075 "phenotype"
[Term]
id: DI-06379
name: Intellectual developmental disorder, X-linked, syndromic, Pilorge type
def: "A disorder characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities. Variable features include motor incoordination, seizures, and ocular abnormalities. Disease onset is in infancy, and severity is higly variable." []
xref: MedGen:CN308206
xref: MeSH:D038901
xref: MIM:301076 "phenotype"
[Term]
id: DI-06380
name: Spermatogenic failure, X-linked, 4
def: "A male infertility disorder characterized by non-obstructive azoospermia or oligoasthenoteratozoospermia. Some patients present spermatogenic maturation arrest with an almost complete absence of early and late primary spermatocytes." []
xref: MedGen:CN308093
xref: MeSH:D007248
xref: MIM:301077 "phenotype"
[Term]
id: DI-06381
name: Immunodeficiency 98 with autoinflammation, X-linked
def: "An X-linked disorder characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Features include mouth ulcers, fever, poor early growth, hepatosplenomegaly, lymphadenopathy, polyarthritis, and non- infectious enteritis." []
synonym: "Inflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by TLR8" [UniProt]
synonym: "INFLTR8" [UniProt]
xref: MedGen:CN311637
xref: MeSH:D007153
xref: MIM:301078 "phenotype"
[Term]
id: DI-06382
name: Immunodeficiency 97 with autoinflammation
def: "An autosomal recessive disorder with variable features. Affected individuals have childhood-onset antibody defects, cytopenias, and T lymphocytic pneumonitis and colitis. Some patients may have features of hemophagocytic lymphohistiocytosis." []
xref: MedGen:CN307962
xref: MeSH:D007153
xref: MIM:619802 "phenotype"
[Term]
id: DI-06383
name: Spinocerebellar ataxia 49
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA49 is an autosomal dominant, slowly progressive form characterized by ataxia, nystagmus, dysarthria, polyneuropathy, pyramidal signs, cerebellar atrophy and distinctive cerebral demyelination. Affected individuals present with horizontal and vertical gaze-evoked nystagmus and hyperreflexia as initial clinical signs. Age of disease onset ranges from the second to seventh decades, even within the same family." []
xref: MedGen:CN307998
xref: MeSH:D020754
xref: MIM:619806 "phenotype"
[Term]
id: DI-06384
name: Deafness, autosomal dominant, 83
def: "A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DNFA83 is characterized by progressive, mild to profound hearing loss." []
xref: MedGen:CN307961
xref: MeSH:D006319
xref: MIM:619808 "phenotype"
[Term]
id: DI-06385
name: Deafness, autosomal dominant, 84
def: "A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA84 is characterized by slowly progressive, postlingual hearing loss." []
xref: MedGen:CN307959
xref: MeSH:D006319
xref: MIM:619810 "phenotype"
[Term]
id: DI-06386
name: Neutropenia, severe congenital 9, autosomal dominant
def: "A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. SCN9 is characterized by onset of neutropenia in the first years of life. Rare patients may exhibit additional features such as seizures, learning difficulties, or cataracts. Patients with SCN9 do not have 3- methylglutaconic aciduria." []
xref: MedGen:CN308094
xref: MeSH:D009503
xref: MIM:619813 "phenotype"
[Term]
id: DI-06387
name: 3-methylglutaconic aciduria 7A
def: "An autosomal dominant inborn error of metabolism with a highly variable phenotype. Primary disease symptoms are increased levels of 3-methylglutaconic acid, neurologic deterioration and neutropenia. Other common features include progressive encephalopathy, movement abnormalities, delayed psychomotor development, impaired intellectual development, cataracts, seizures, and recurrent infections." []
synonym: "3-methylglutaconic aciduria with neurologic involvement and neutropenia, autosomal dominant" [UniProt]
synonym: "3-methylglutaconic aciduria, type VIIA, autosomal dominant" [UniProt]
xref: MedGen:CN308208
xref: MeSH:D008661
xref: MIM:619835 "phenotype"
[Term]
id: DI-06388
name: Agammaglobulinemia 8B, autosomal recessive
def: "A form of agammaglobulinemia, a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. AGM8B is characterized by onset of recurrent infections in early childhood. AGM8B patients may show dysmorphic facies and subtle abnormalities of other immune cells, such as T cells." []
synonym: "Agammaglobulinemia, autosomal recessive, due to TCF3 defect" [UniProt]
xref: MedGen:CN308189
xref: MeSH:D000361
xref: MIM:619824 "phenotype"
[Term]
id: DI-06389
name: Aortic aneurysm, familial thoracic 12
def: "A form of thoracic aortic aneurysm, a disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. AAT12 is an autosomal dominant disease manifesting with aortic dissection and progressive dilation of the aortic root, ascending aorta, and abdominal aorta." []
xref: MedGen:CN307963
xref: MeSH:D017545
xref: MIM:619825 "phenotype"
[Term]
id: DI-06390
name: Spermatogenic failure 69
def: "An autosomal recessive male infertility disorder characterized by low sperm concentrations, globozoospermia, and absence of sperm acrosome." []
xref: MedGen:CN307965
xref: MeSH:D007248
xref: MIM:619826 "phenotype"
[Term]
id: DI-06391
name: Spermatogenic failure 70
def: "An autosomal recessive male infertility disorder characterized by azoospermia, sperm immotility or necrozoospermia. Hypospermatogenesis and meiotic arrest have also been observed." []
xref: MedGen:CN307996
xref: MeSH:D007248
xref: MIM:619828 "phenotype"
[Term]
id: DI-06392
name: Spermatogenic failure 71
def: "An autosomal recessive male infertility disorder characterized by non- obstructive azoospermia." []
xref: MedGen:CN308000
xref: MeSH:D007248
xref: MIM:619831 "phenotype"
[Term]
id: DI-06393
name: Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
def: "An autosomal recessive disorder characterized by global developmental delay apparent from infancy or early childhood, impaired intellectual development, and behavioral and psychiatric abnormalities. Some patients present seizures and facial dysmorphism. Brain imaging often shows cortical anomalies." []
xref: MedGen:CN311634
xref: MeSH:D008607
xref: MIM:619827 "phenotype"
[Term]
id: DI-06394
name: Ovarian dysgenesis 10
def: "An autosomal recessive form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads." []
xref: MedGen:CN308095
xref: MeSH:D023961
xref: MIM:619834 "phenotype"
[Term]
id: DI-06395
name: Auditory neuropathy, autosomal dominant 3
def: "A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. Affected individuals typically respond to sound but have difficulties in speech discrimination. AUNA3 is a late- onset, progressive form." []
xref: MedGen:CN308001
xref: MeSH:D006319
xref: MIM:619832 "phenotype"
[Term]
id: DI-06396
name: Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
def: "An autosomal recessive disorder characterized by developmental delay apparent from infancy or early childhood, intellectual disability, hypotonia, peripheral neuropathy, and/or spasticity. Disease severity is highly variable. Most affected individuals have skeletal defects and dysmorphic facial features. Some may have ocular or auditory problems, behavioral abnormalities, and non-specific findings on brain imaging." []
xref: MedGen:CN311878
xref: MeSH:D065886
xref: MIM:619833 "phenotype"
[Term]
id: DI-06397
name: Hypoalphalipoproteinemia, primary, 2, intermediate
def: "An autosomal dominant disorder of lipoprotein metabolism, biochemically characterized by partial apoA-I deficiency and reduced serum high-density lipoprotein cholesterol (HDL-C). Affected individuals have half the normal plasma apoA-I and HDL-C levels, and may develop xanthomas and corneal opacities. Most patients do not have increased cardiovascular risk." []
synonym: "Hypoalphalipoproteinemia, primary, 2, autosomal dominant" [UniProt]
xref: MedGen:CN311635
xref: MeSH:D052456
xref: MIM:619836 "phenotype"
[Term]
id: DI-06398
name: Macrothrombocytopenia, isolated, 2, autosomal dominant
def: "A congenital blood disorder characterized by increased platelet size and decreased number of circulating platelets. Affected individuals usually are asymptomatic and do not have increased bleeding episodes." []
xref: MedGen:CN311879
xref: MeSH:D013921
xref: MIM:619840 "phenotype"
[Term]
id: DI-06399
name: Chilton-Okur-Chung neurodevelopmental syndrome
def: "A disorder characterized by developmental delay, intellectual disability, hypotonia, and structural brain abnormalities including cerebellar vermis hypoplasia and agenesis or hypoplasia of the corpus callosum. Most patients have behavioral abnormalities, including autism spectrum disorder, attention deficit and hyperactivity disorder, and aggression. About half of patients have dysmorphic facial features. Rare involvement of other organ systems may be present." []
xref: MedGen:CN311959
xref: MeSH:D065886
xref: MIM:619841 "phenotype"
[Term]
id: DI-06400
name: Intellectual developmental disorder with or without peripheral neuropathy
def: "An autosomal recessive disorder characterized by global developmental delay appearing in infancy or early childhood, intellectual disability, and progressive sensorimotor neuropathy with associated distal weakness. Affected individuals have hypotonia and delayed walking with an unsteady gait and frequent falls. Additional features may include dysarthria and subtle facial dysmorpism." []
xref: MedGen:CN312011
xref: MeSH:D065886
xref: MIM:619844 "phenotype"
[Term]
id: DI-06401
name: Retinitis pigmentosa 93
def: "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP93 is an autosomal recessive, mild to moderate form, with onset in the second or third decade of life." []
xref: MedGen:CN311569
xref: MeSH:D012174
xref: MIM:619845 "phenotype"
[Term]
id: DI-06402
name: Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
def: "An autosomal recessive immunologic disorder characterized by recurrent sinopulmonary infections appearing in early childhood, B- and T-cell lymphopenia, and progressive severe hypogammaglobulinemia with decreased memory B cells. Patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo." []
xref: MedGen:CN312012
xref: MeSH:D007153
xref: MIM:619846 "phenotype"
[Term]
id: DI-06403
name: Neurodegeneration, childhood-onset, with progressive microcephaly
def: "An autosomal recessive disorder characterized by global developmental delay apparent from infancy. Most severely affected individuals have severe and progressive microcephaly, early-onset seizures, lack of visual tracking, and almost no developmental milestones, resulting in early death. Less severely affected individuals have a small head circumference and severely impaired intellectual development with poor speech and motor delay. Additional features may include poor overall growth, axial hypotonia, limb hypertonia with spasticity, undescended testes, and cerebral atrophy with neuronal loss." []
xref: MedGen:CN312015
xref: MeSH:D065886
xref: MIM:619847 "phenotype"
[Term]
id: DI-06404
name: Cholestasis, progressive familial intrahepatic, 9
def: "An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC9 onset is in infancy or early childhood." []
xref: MedGen:CN312013
xref: MeSH:D002780
xref: MIM:619849 "phenotype"
[Term]
id: DI-06405
name: Leukodystrophy, hypomyelinating, 24
def: "An autosomal dominant disorder characterized by global developmental delay apparent in infancy, impaired intellectual development, and loss of developmental milestones and ambulation. Brain imaging shows non- progressive severe cerebral atrophy, ventriculomegaly, hypomyelinating leukodystrophy, and thinning of the corpus callosum." []
xref: MedGen:CN311638
xref: MeSH:D020279
xref: MIM:619851 "phenotype"
[Term]
id: DI-06406
name: Thyroid hormone metabolism, abnormal, 2
def: "An autosomal dominant disorder characterized by slightly increased thyroid-stimulating hormone levels, and elevated serum reverse triiodothyronine (rT3) levels and rT3/T3 ratios." []
xref: MedGen:CN311881
xref: MeSH:D013959
xref: MIM:619855 "phenotype"
[Term]
id: DI-06407
name: Autoinflammatory-pancytopenia syndrome
def: "An autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging." []
xref: MedGen:CN312016
xref: MeSH:D007249
xref: MeSH:D010198
xref: MIM:619858 "phenotype"
[Term]
id: DI-06408
name: Phosphoribosylaminoimidazole carboxylase deficiency
def: "An autosomal recessive inborn error of purine metabolism, clinically characterized by multiple congenital anomalies and early neonatal death." []
xref: MedGen:CN312014
xref: MeSH:D011686
xref: MIM:619859 "phenotype"
[Term]
id: DI-06409
name: Deafness, autosomal dominant, 21
def: "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA21 is an autosomal dominant, progressive form with incomplete penetrance. Age at onset ranges from infancy to late adulthood." []
xref: MedGen:C1846922
xref: MeSH:D006319
xref: MIM:607017 "phenotype"
[Term]
id: DI-06410
name: Systemic lupus erythematosus 17
def: "A form of systemic lupus erythematosus, a chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. SLEB17 is an X-linked dominant form characterized by onset of systemic autoinflammatory symptoms in the first decades of life." []
xref: MedGen:CN312033
xref: MeSH:D008180
xref: MIM:301080 "phenotype"
[Term]
id: DI-06411
name: Autoinflammatory disease, systemic, X-linked
def: "An X-linked disorder characterized by systemic autoinflammation appearing in the first months of life. Clinical manifestations are variable, including lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional features may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy." []
xref: MedGen:CN312438
xref: MeSH:D056660
xref: MIM:301081 "phenotype"
[Term]
id: DI-06412
name: Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
def: "An autosomal dominant disorder characterized by global developmental delay, impaired intellectual development, delayed or absent speech, hypotonia, behavioral abnormalities, and epilepsy that ranges from self-limiting to intractable. More variable features include non- specific dysmorphic facial features, distal skeletal anomalies, and brain imaging abnormalities." []
xref: MedGen:CN312022
xref: MeSH:D065886
xref: MIM:619854 "phenotype"
[Term]
id: DI-06413
name: Spinocerebellar ataxia, autosomal recessive, 32
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR32 is characterized by the onset of gait ataxia in the second or third decades of life. Other classic features include upper limb ataxia, oculomotor signs, dysphagia, and dysarthria. Some patients may have hyper- or hypokinetic movement abnormalities. Brain imaging shows cerebellar atrophy. Atrophy can extend to the brainstem and medullary olives." []
xref: MedGen:CN312030
xref: MeSH:D002524
xref: MeSH:D013132
xref: MIM:619862 "phenotype"
[Term]
id: DI-06414
name: Leukodystrophy, childhood-onset, remitting
def: "An autosomal dominant disorder characterized by loss of developmental abilities, demyelination and leukodystrophy on brain imaging, triggered by fever or infection in the first year of life. Abnormalities almost completely resolve over a period of 1 to 2 years, and affected children regain normal development accompanied by remyelination." []
xref: MedGen:CN312034
xref: MeSH:D020279
xref: MIM:619864 "phenotype"
[Term]
id: DI-06415
name: Spermatogenic failure 72
def: "An autosomal recessive male infertility disorder characterized by asthenoteratospermia and multiple morphologic abnormalities of the flagella, including coiled, short, angulated, absent, and irregular- caliber flagella, resulting in absent sperm motility." []
xref: MedGen:CN312023
xref: MeSH:D007248
xref: MIM:619867 "phenotype"
[Term]
id: DI-06416
name: Spermatogenic failure 73
def: "An autosomal recessive male infertility disorder characterized by non- obstructive azoospermia due to meiotic arrest." []
xref: MedGen:CN312036
xref: MeSH:D007248
xref: MIM:619878 "phenotype"
[Term]
id: DI-06417
name: Spermatogenic failure 74
def: "An autosomal recessive male infertility disorder characterized by non- obstructive azoospermia due to complete meiotic arrest at the spermatocyte zygotene or pachytene stage. Some men exhibit reduced testicular volume and/or reduced testosterone level." []
xref: MedGen:CN315601
xref: MeSH:D007248
xref: MIM:619937 "phenotype"
[Term]
id: DI-06418
name: Cholestasis, progressive familial intrahepatic, 10
def: "A form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC10 is an autosomal recessive form with highly variable phenotype and severity, manifesting in the first months or years of life." []
xref: MedGen:CN312031
xref: MeSH:D002780
xref: MIM:619868 "phenotype"
[Term]
id: DI-06419
name: Cholestasis, progressive familial intrahepatic, 11
def: "An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease." []
xref: MedGen:CN312035
xref: MeSH:D002780
xref: MIM:619874 "phenotype"
[Term]
id: DI-06420
name: Neurocardiofaciodigital syndrome
def: "An autosomal recessive syndrome characterized by severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with a supernumerary hypoplastic digit between the fourth and fifth digits of the hands and/or feet. Other features include eye abnormalities, hearing impairment, and electroencephalogram anomalies." []
xref: MedGen:CN312025
xref: MeSH:D000015
xref: MeSH:D017880
xref: MIM:619869 "phenotype"
[Term]
id: DI-06421
name: Corneal dystrophy, punctiform and polychromatic pre-Descemet
def: "An autosomal dominant corneal dystrophy characterized by the presence of punctiform, multicolored opacities in the posterior stroma, immediately anterior to Descemet membrane. Affected individuals are typically asymptomatic." []
xref: MedGen:CN312029
xref: MeSH:D003317
xref: MIM:619871 "phenotype"
[Term]
id: DI-06422
name: Immunodeficiency 101, varicella zoster virus-specific
def: "An autosomal dominant immunologic disorder characterized by reactivation of varicella zoster virus (VZV) infection in adulthood after primary childhood infection with VZV. The viral reactivation manifests as central nervous system vasculitis with stroke-like episodes and lacunar infarcts on brain imaging. Features include headache, hemiparesis, impaired balance, and other neurologic signs." []
xref: MedGen:CN312176
xref: MeSH:D007153
xref: MIM:619872 "phenotype"
[Term]
id: DI-06423
name: Parenti-Mignot neurodevelopmental syndrome
def: "An autosomal dominant neurodevelopmental disorder characterized by intellectual disability, speech delay, motor delay, behavioral problems, and epilepsy." []
xref: MedGen:CN312032
xref: MeSH:D065886
xref: MIM:619873 "phenotype"
[Term]
id: DI-06424
name: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
def: "An autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Affected individuals have hypotonia, poor or absent motor skills, feeding difficulties with poor overall growth, microcephaly, mild dysmorphic features, and early-onset seizures. Additional variable features include nystagmus, cortical blindness, and spasticity." []
xref: MedGen:CN315591
xref: MeSH:D065886
xref: MIM:619876 "phenotype"
[Term]
id: DI-06425
name: Dentici-Novelli neurodevelopmental syndrome
def: "An autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Disease severity is variable. More severely affected individuals have profound intellectual disability, axial hypotonia, peripheral spasticity, prenatal and postnatal microcephaly, early-onset seizures, brain imaging abnormalities, and are unable to walk or speak. Patients with a less severe phenotype may achieve some developmental goals and show less severe intellectual disability." []
xref: MedGen:CN312177
xref: MeSH:D065886
xref: MIM:619877 "phenotype"
[Term]
id: DI-06426
name: Neurodevelopmental disorder with poor growth and skeletal anomalies
def: "An autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Affected individuals present with progressive microcephaly, hypotonia, delayed walking, poor or absent speech, intellectual disability, and variable skeletal anomalies. Variable features include seizures, non- specific dysmorphic facial features, oculomotor apraxia, and non- specific brain imaging abnormalities." []
xref: MedGen:CN312178
xref: MeSH:D065886
xref: MIM:619880 "phenotype"
[Term]
id: DI-06427
name: Neurodevelopmental disorder with language delay and seizures
def: "An autosomal recessive disorder characterized by global developmental delay, intellectual disability, speech delay, and seizures. Additional features may include axial hypotonia, peripheral hypertonia, hypothyroidism, and non-specific dysmorphic features or brain imaging abnormalities." []
xref: MedGen:CN315588
xref: MeSH:D065886
xref: MIM:619908 "phenotype"
[Term]
id: DI-06428
name: Neurodevelopmental disorder with dystonia and seizures
def: "An autosomal recessive disorder characterized by global developmental delay, inability to walk or speak, profoundly impaired intellectual development, and early-onset dystonia. Additional features may include other extrapyramidal movements, seizures or seizure-like activity, and cerebellar hypoplasia on brain imaging." []
xref: MedGen:CN315597
xref: MeSH:D065886
xref: MIM:619922 "phenotype"
[Term]
id: DI-06429
name: Meckel syndrome 14
def: "A form of Meckel syndrome, an autosomal recessive disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Death occurs in the prenatal or perinatal period." []
xref: MedGen:CN312037
xref: MeSH:D002925
xref: MeSH:D004677
xref: MeSH:D007690
xref: MIM:619879 "phenotype"
[Term]
id: DI-06430
name: Developmental and epileptic encephalopathy 102
def: "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE102 is an autosomal recessive form characterized by onset of variable types of seizures in infancy." []
xref: MedGen:CN312435
xref: MeSH:D013036
xref: MIM:619881 "phenotype"
[Term]
id: DI-06431
name: Developmental and epileptic encephalopathy 103
def: "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE103 is an autosomal dominant form characterized by onset of various types of seizures in the first year of life." []
xref: MedGen:CN315596
xref: MeSH:D013036
xref: MIM:619913 "phenotype"
[Term]
id: DI-06432
name: Osteoporosis, childhood- or juvenile-onset, with developmental delay
def: "An autosomal dominant disorder characterized by decreased bone mass and deterioration of bone microarchitecture, fragile bones, recurrent fractures following minor trauma, and developmental delay of variable severity." []
xref: MedGen:CN312434
xref: MeSH:D010024
xref: MeSH:D065886
xref: MIM:619884 "phenotype"
[Term]
id: DI-06433
name: Renal hypodysplasia/aplasia 4
def: "An autosomal recessive, severe congenital anomaly of the kidney and urinary tract characterized by bilateral renal agenesis, and severely reduced or absent amniotic fluid during pregnancy. Patients exhibit the Potter sequence, including flattened nose, ear anomalies, and receding chin. Some affected individuals have limb contractures and joint dislocations. Bilateral renal agenesis is almost invariably fatal in utero or in the perinatal period." []
xref: MedGen:CN312433
xref: MeSH:D007674
xref: MIM:619887 "phenotype"
[Term]
id: DI-06434
name: Holoprosencephaly 14
def: "An autosomal recessive form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. In its most severe form (alobar holoprosencephaly), the forebrain consists of a single ventricle, and midbrain structures may be malformed as well. In the most extreme cases, anophthalmia or cyclopia is evident along with a congenital absence of the mature nose. In milder forms (semilobar or lobar holoprosencephaly), rudimentary midline structures are present. The less severe form features facial dysmorphism characterized by ocular hypertelorism, defects of the upper lip and/or nose, and absence of the olfactory nerves or corpus callosum." []
xref: MedGen:CN312436
xref: MeSH:D016142
xref: MIM:619895 "phenotype"
[Term]
id: DI-06435
name: Cardiomyopathy, dilated, 2G
def: "A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2G is an autosomal recessive form characterized by early-onset, severe cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy." []
xref: MedGen:CN312437
xref: MeSH:D002311
xref: MIM:619897 "phenotype"
[Term]
id: DI-06436
name: Hepatorenocardiac degenerative fibrosis
def: "An autosomal recessive disorder characterized by progressive degenerative liver fibrosis, fibrocystic kidney disease, and hypertrophic cardiomyopathy with atypical fibrotic patterns on histopathology. Disease onset is variable, ranging from childhood to adulthood." []
xref: MedGen:CN312439
xref: MeSH:D024741
xref: MIM:619902 "phenotype"
[Term]
id: DI-06437
name: Pulmonary hypertension, primary, 5
def: "A form of primary pulmonary hypertension, a disease defined by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. Primary pulmonary hypertension exhibits incomplete penetrance, sex bias and variable age of onset, both within and between families. PPH5 is an autosomal recessive form characterized by the onset in infancy. Death in early childhood is common." []
xref: MedGen:C1849552
xref: MeSH:D006976
xref: MIM:265400 "phenotype"
[Term]
id: DI-06438
name: Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia
def: "An autosomal dominant disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis in the first months of life. Disease development appears to be influenced or triggered by viral infection. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly." []
synonym: "PAPHG" [UniProt]
synonym: "Pulmonary alveolar proteinosis with hypogammaglobulinemia" [UniProt]
xref: MedGen:C4747984
xref: MeSH:D007153
xref: MeSH:D011649
xref: MIM:618042 "phenotype"
[Term]
id: DI-06439
name: Immunodeficiency 102
def: "An X-linked recessive disorder characterized by recurrent sinopulmonary, cutaneous and mucosal infections, and refractory autoimmune cytopenias that appear in early childhood. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. The disorder may also manifest as a hyperinflammatory state with immune dysregulation." []
xref: MedGen:CN313131
xref: MeSH:D007153
xref: MIM:301082 "phenotype"
[Term]
id: DI-06440
name: Hemolytic anemia due to elevated adenosine deaminase
def: "An X-linked disorder characterized by onset of mild to moderate red cell anemia soon after birth or in childhood. The anemia is associated with significantly increased adenosine deaminase activity, specifically in erythrocyte precursors." []
synonym: "Hemolytic anemia due to elevated erythrocyte ADA" [UniProt]
synonym: "Hemolytic anemia due to erythrocyte adenosine deaminase overproduction" [UniProt]
xref: MedGen:C1863235
xref: MeSH:D000745
xref: MIM:301083 "phenotype"
[Term]
id: DI-06441
name: Peripheral motor neuropathy, childhood-onset, biotin-responsive
def: "An autosomal recessive disorder characterized by distal muscle weakness and atrophy appearing late in the first decade of life. The disorder predominantly affects the upper limbs and hands, resulting in difficulties with fine motor skills. Some patients may have lower limb involvement, resulting in gait difficulties. Additional features may include spasticity, ataxia, and cerebellar signs. Sensation is intact, and patients have normal cognitive development. Treatment with biotin, pantothenic acid, and lipoic acid may result in clinical improvement." []
xref: MedGen:CN315395
xref: MeSH:D010523
xref: MIM:619903 "phenotype"
[Term]
id: DI-06442
name: Pontocerebellar hypoplasia 17
def: "A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH17 is an autosomal recessive, severe form clinically characterized by neonatal hypotonia, feeding and respiratory difficulties, central apnea, and bradycardia. Most affected individuals die in infancy. Brain imaging shows cerebellar and brainstem hypoplasia." []
synonym: "Pontocerebellar hypoplasia, type 17" [UniProt]
xref: MedGen:CN315589
xref: MeSH:D002526
xref: MIM:619909 "phenotype"
[Term]
id: DI-06443
name: Intellectual developmental disorder, autosomal dominant 66
def: "An autosomal dominant disorder characterized by mild to moderate global development delay, impaired intellectual development, and speech delay. Additional common symptoms include autism, seizures, and distal limb abnormalities. Disease severity is highly variable." []
xref: MedGen:CN315590
xref: MeSH:D008607
xref: MIM:619910 "phenotype"
[Term]
id: DI-06444
name: Intellectual developmental disorder, autosomal dominant 67
def: "An autosomal dominant disorder characterized by global development delay and impaired intellectual development apparent from infancy or early childhood. Additional features may include behavioral abnormalities, and language and sleeping difficulties." []
xref: MedGen:CN315598
xref: MeSH:D008607
xref: MIM:619927 "phenotype"
[Term]
id: DI-06445
name: Intellectual developmental disorder, autosomal recessive 76
def: "An autosomal recessive disorder characterized by global developmental delay, severely impaired intellectual development, absent speech, seizures, sleep disturbances, and feeding difficulties." []
xref: MedGen:CN315599
xref: MeSH:D008607
xref: MIM:619931 "phenotype"
[Term]
id: DI-06446
name: Dystonia 35, childhood-onset
def: "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT35 is an autosomal recessive form characterized by the onset of a dystonic movement disorder in the first year of life." []
xref: MedGen:CN315593
xref: MeSH:D004421
xref: MIM:619921 "phenotype"
[Term]
id: DI-06447
name: Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
def: "An autosomal dominant disorder characterized by global developmental delay affecting motor, cognitive, and speech domains apparent in early childhood or infancy. Most patients also show movement abnormalities, often hypotonia with later development of dopa-responsive dystonia or parkinsonism. About half of patients develop various types of seizures." []
xref: MedGen:CN315592
xref: MeSH:D065886
xref: MIM:619911 "phenotype"
[Term]
id: DI-06448
name: Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 3
def: "An autosomal dominant disorder characterized by global developmental delay with poor overall growth, impaired intellectual development, and speech difficulties. More variable features include hypotonia, microcephaly, and dysmorphic facies." []
xref: MedGen:CN315799
xref: MeSH:D065886
xref: MIM:619950 "phenotype"
[Term]
id: DI-06449
name: Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 4
def: "An autosomal dominant disorder characterized by global developmental delay with poor overall growth, variably impaired intellectual development, learning difficulties, distal skeletal anomalies, and dysmorphic facies. Some patients have visual or hearing deficits." []
xref: MedGen:CN315800
xref: MeSH:D065886
xref: MIM:619951 "phenotype"
[Term]
id: DI-06450
name: Spinocerebellar ataxia 25
def: "An autosomal dominant form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA25 is characterized by the onset of lower limb ataxia and gait difficulties in the first few decades of life, although later onset has been reported. There is incomplete penetrance and variable expressivity, even within families." []
xref: MedGen:C1837518
xref: MeSH:D020754
xref: MIM:608703 "phenotype"
[Term]
id: DI-06451
name: Spermatogenic failure 2
def: "An autosomal recessive disorder characterized by male infertility due to non-obstructive azoospermia. Testicular histopathology reveals no round spermatids or spermatozoa in the seminiferous tubules of SPGF2 patients, consistent with meiotic arrest." []
xref: MedGen:C1862459
xref: MeSH:D007248
xref: MIM:108420 "phenotype"
[Term]
id: DI-06452
name: Spermatogenic failure 75
def: "An autosomal recessive disorder characterized by male infertility due to non-obstructive azoospermia resulting from maturation arrest at the spermatocyte stage." []
xref: MedGen:CN315673
xref: MeSH:D007248
xref: MIM:619949 "phenotype"
[Term]
id: DI-06453
name: Braddock-Carey syndrome 2
def: "An autosomal recessive disease characterized by microcephaly, congenital thrombocytopenia, and facial dysmorphisms including Pierre- Robin sequence." []
xref: MedGen:CN315827
xref: MeSH:D010855
xref: MeSH:D019465
xref: MIM:619981 "phenotype"
[Term]
id: DI-06454
name: Macular dystrophy, retinal, 4
def: "An autosomal dominant retinal disease characterized by late-onset macular degeneration, with multiple drusen-like deposits, macular geographic atrophy, and choroidal neovascularization. Patients also exhibit extensive retinal dysfunction with impaired rod function." []
xref: MedGen:CN315822
xref: MeSH:D008268
xref: MIM:619977 "phenotype"
[Term]
id: DI-06455
name: Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
def: "An autosomal recessive disorder with onset soon after birth or in early infancy. Affected individuals do not show developmental progress, are unable to sit or walk, do not acquire speech, have poor visual fixation, and show poor overall growth associated with feeding problems. Additional variable features include seizures, spasticity, and joint contractures. Brain imaging shows hypomyelination, thin corpus callosum, and cerebral and cerebellar atrophy." []
xref: MedGen:CN315825
xref: MeSH:D065886
xref: MIM:619972 "phenotype"
[Term]
id: DI-06456
name: Neurodevelopmental disorder with epilepsy and brain atrophy
def: "An autosomal recessive disorder characterized by global developmental delay, early-onset progressive myoclonus epilepsy and ataxia. Brain imaging shows progressive atrophy." []
xref: MedGen:CN315821
xref: MeSH:D065886
xref: MIM:619971 "phenotype"
[Term]
id: DI-06457
name: Developmental and epileptic encephalopathy 104
def: "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE104 is an autosomal dominant form characterized by onset of developmental delay and drug-resistant focal and generalized tonic-clonic seizures in the first few months of life." []
xref: MedGen:CN315820
xref: MeSH:D013036
xref: MIM:619970 "phenotype"
[Term]
id: DI-06458
name: Congenital myopathy 11
def: "An autosomal recessive skeletal muscle disorder characterized clinically by severe hypotonia apparent at birth, motor delay, and walking difficulties. The course of the disease is non-progressive, and affected individuals achieve independent ambulation and tend to show improvement of muscle weakness throughout childhood and early adulthood." []
synonym: "MYONP" [UniProt]
synonym: "Myopathy, congenital, non-progressive" [UniProt]
xref: MedGen:CN315819
xref: MeSH:D009135
xref: MIM:619967 "phenotype"
[Term]
id: DI-06459
name: Spastic paraplegia 87, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG87 is characterized by onset of lower limb spasticity in infancy or early childhood, and lack of upper limbs and bulbar regions involvement. Affected individuals have mildly delayed walking, spastic gait, and hyperreflexia. Some patients may also have mild intellectual disability or speech problems." []
xref: MedGen:CN315824
xref: MeSH:D015419
xref: MIM:619966 "phenotype"
[Term]
id: DI-06460
name: Craniofacial dysmorphism, skeletal anomalies and impaired intellectual development syndrome 2
def: "An autosomal recessive disorder characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech." []
xref: MedGen:CN315814
xref: MeSH:D008607
xref: MeSH:D009139
xref: MeSH:D019465
xref: MIM:616994 "phenotype"
[Term]
id: DI-06461
name: Intellectual developmental disorder, autosomal dominant 69
def: "An autosomal dominant disorder characterized by developmental delay and variably impaired intellectual development. Additional features may include intention tremor in infancy and seizures in childhood, with remission of these in adolescence." []
xref: MedGen:CN315797
xref: MeSH:D008607
xref: MIM:617863 "phenotype"
[Term]
id: DI-06462
name: Intellectual developmental disorder, autosomal dominant 68
def: "An autosomal dominant disorder characterized by developmental delay, intellectual disability, microcephaly, poor growth, feeding difficulties, and dysmorphic features. Some patients may have autism spectrum disorder or attention deficit-hyperactivity disorder." []
xref: MedGen:CN315798
xref: MeSH:D008607
xref: MIM:619934 "phenotype"
[Term]
id: DI-06463
name: Knobloch syndrome 2
def: "An autosomal dominant form of Knobloch syndrome characterized by high myopia, vitreoretinal degeneration, retinal detachment, occipital encephalocele or scalp lesions, and mild to severe psychomotor delay." []
xref: MedGen:C5676897
xref: MeSH:D004677
xref: MeSH:D012163
xref: MIM:618458 "phenotype"
[Term]
id: DI-06464
name: Immunodeficiency 105
def: "An autosomal recessive disorder characterized by recurrent infections in early infancy, decreased or absent numbers of non-functional T cells, normal or increased levels of B cells, hypogammaglobulinemia, and normal or low NK cells. Clinical manifestations may include pneumonia, dermatitis, and lymphadenopathy." []
synonym: "SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" [UniProt]
synonym: "Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" [UniProt]
xref: MedGen:CN315595
xref: MeSH:D007153
xref: MIM:619924 "phenotype"
[Term]
id: DI-06465
name: Immunodeficiency 106, susceptibility to viral infections
def: "An autosomal recessive immunologic disorder characterized by increased susceptibility to viral infections beginning in infancy or early childhood. IMD106 affected individuals may demonstrate adverse reactions to vaccination with live attenuated viral vaccines, most notably measles, mumps and rubella (MMR) and yellow fever vaccines. A subset of IMD106 patients develop severe reactions, including excessive hyperinflammatory response, encephalopathy, acute respiratory distress syndrome, and multiorgan failure. IMD106 may also predispose to severe respiratory infection with SARS-CoV-2." []
synonym: "IFNAR1 deficiency" [UniProt]
xref: MedGen:CN315600
xref: MeSH:D007153
xref: MIM:619935 "phenotype"
[Term]
id: DI-06466
name: Premature ovarian failure 20
def: "A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF20 inheritance is autosomal recessive." []
xref: MedGen:CN315602
xref: MeSH:D016649
xref: MIM:619938 "phenotype"
[Term]
id: DI-06467
name: Carey-Fineman-Ziter syndrome 2
def: "An autosomal recessive disorder characterized by weakness of the facial musculature, hypomimic facies, increased overbite, micrognathia, and facial dysmorphism. Some patients manifest failure to thrive, axial hypotonia, and progressive scoliosis." []
xref: MedGen:CN315603
xref: MeSH:D009135
xref: MeSH:D010855
xref: MeSH:D020331
xref: MIM:619941 "phenotype"
[Term]
id: DI-06468
name: Waardenburg syndrome 2F
def: "A form of Waardenburg syndrome, an auditory-pigmentary disorder characterized by sensorineural deafness, pigmentary disturbances of the hair, skin and eyes, and absence of dystopia canthorum which is the lateral displacement of the inner canthus of each eye. WS2F is an autosomal recessive form with variable expressivity, characterized by congenital or neonatal-onset sensorineural hearing loss." []
xref: MedGen:CN315606
xref: MeSH:D014849
xref: MIM:619947 "phenotype"
[Term]
id: DI-06469
name: Dworschak-Punetha neurodevelopmental syndrome
def: "An autosomal recessive disorder characterized by global developmental delay, mildly impaired intellectual development, speech delay, and behavioral abnormalities including autism spectrum disorder and hyperactivity. Additional variable additional features include optic disk hypoplasia, ptosis, hypo- or hyperpigmented skin lesions, non- specific facial dysmorphism, and abnormalities of the ventricles or corpus callosum seen on brain imaging." []
xref: MedGen:CN315809
xref: MeSH:D065886
xref: MIM:619955 "phenotype"
[Term]
id: DI-06470
name: Attention deficit-hyperactivity disorder 8
def: "A form of attention deficit-hyperactivity disorder, a neurobehavioral developmental condition primarily characterized by the coexistence of attentional problems and hyperactivity, with each feature occurring infrequently alone. ADHD8 is an autosomal recessive form with onset in early childhood, usually by age 3 years. ADHD8 patients may manifest mild developmental delay with autism." []
xref: MedGen:CN315801
xref: MeSH:D001289
xref: MIM:619957 "phenotype"
[Term]
id: DI-06471
name: ACCES syndrome
def: "An autosomal dominant syndrome characterized by a highly variable phenotypic spectrum. Clinical features include aplasia cutis congenita, thin scalp hair, dry skin, dental anomalies, ectrodactyly, and skeletal and neurodevelopmental abnormalities. Craniofacial, cardiac, renal and genital anomalies have also been reported. Affected individuals have early growth deficiencies that improve with age." []
synonym: "Aplasia cutis congenita with ectrodactyly skeletal syndrome" [UniProt]
xref: MedGen:CN315802
xref: MeSH:D004476
xref: MIM:619959 "phenotype"
[Term]
id: DI-06472
name: Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures
def: "An autosomal dominant disorder characterized by mild to moderately impaired intellectual development, language delay, motor deficits, and behavioral abnormalities including aggression, hyperactivity, and autism spectrum disorder. About half of individuals develop various types of seizures. More variable features include dysmorphic facial features, mild ocular anomalies, and non-specific findings on brain imaging." []
xref: MedGen:CN315959
xref: MeSH:D065886
xref: MIM:619964 "phenotype"
[Term]
id: DI-06473
name: Tumor predisposition syndrome 2
def: "An autosomal recessive condition characterized by predisposition to develop a variety of tumors or malignancies, including acute myeloid leukemia, myelodysplastic syndrome, colorectal adenomatous polyposis and carcinoma, and uveal melanoma." []
synonym: "MANS" [UniProt]
synonym: "MBD4-associated neoplasia syndrome" [UniProt]
xref: MedGen:CN315913
xref: MeSH:D009386
xref: MIM:619975 "phenotype"
[Term]
id: DI-06474
name: Developmental and epileptic encephalopathy 105 with hypopituitarism
def: "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE105 is an autosomal recessive form characterized by onset of seizures in the first weeks or months of life. Affected individuals have hypopituitarism in association with profoundly impaired development with almost no acquisition of skills, brain atrophy, thin corpus callosum, and small pituitary gland." []
xref: MedGen:CN315914
xref: MeSH:D013036
xref: MIM:619983 "phenotype"
[Term]
id: DI-06475
name: Glycosylphosphatidylinositol biosynthesis defect 25
def: "An autosomal recessive disorder with onset in early infancy and characterized by global developmental delay with almost no milestone achievement, brain anomalies, hypotonia, and contractures. Death may occur in early childhood." []
synonym: "Neurodevelopmental disorder with hypotonia and contractures" [UniProt]
xref: MedGen:CN315915
xref: MeSH:D008607
xref: MIM:619985 "phenotype"
[Term]
id: DI-06476
name: Immunodeficiency 107, susceptibility to invasive Staphylococcus aureus infection
def: "An autosomal dominant immunologic disorder characterized by increased susceptibility to invasive and severe Staphylococcus aureus infection, causing life-threatening skin or pulmonary necrosis. Clinically, penetrance is incomplete and expressivity is variable." []
xref: MedGen:CN315939
xref: MeSH:D007153
xref: MIM:619986 "phenotype"
[Term]
id: DI-06477
name: Intellectual developmental disorder, autosomal recessive 77
def: "An autosomal recessive neurodevelopmental disorder apparent from infancy and characterized by global developmental delay, variably impaired cognitive development, delayed walking, and poor speech in some cases." []
xref: MedGen:CN315937
xref: MeSH:D008607
xref: MIM:619988 "phenotype"
[Term]
id: DI-06478
name: Neurodevelopmental disorder with speech delay and variable ocular anomalies
def: "An autosomal recessive disorder characterized by global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism, and ophthalmological abnormalities. Brain imaging is usually normal, but abnormalities of the corpus callosum have been reported." []
xref: MedGen:CN315940
xref: MeSH:D065886
xref: MIM:619989 "phenotype"
[Term]
id: DI-06479
name: Liver disease, severe congenital
def: "An autosomal recessive disease characterized by severe neonatal liver cirrhosis and progressive hepatic dysfunction. Affected individuals have feeding difficulties, poor overall growth, and failure to thrive with signs of malnutrition. Additional features include jaundice, abdominal distension, hepatomegaly or hepatosplenomegaly, and ascites in most patients." []
xref: MedGen:CN315947
xref: MeSH:D008107
xref: MIM:619991 "phenotype"
[Term]
id: DI-06480
name: Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
def: "An autosomal recessive disorder characterized by characterized by mild to moderate intellectual disability, dysmorphic facial features, intention tremor, dyspraxia, and vertical strabismus." []
xref: MedGen:CN315941
xref: MeSH:D065886
xref: MIM:619995 "phenotype"
[Term]
id: DI-06481
name: Advanced sleep phase syndrome, familial, 4
def: "An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms." []
xref: MedGen:CN235882
xref: MeSH:D020178
xref: MIM:620015 "phenotype"
[Term]
id: DI-06482
name: Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities
def: "An autosomal recessive disorder characterized by developmental delay apparent in infancy, impaired intellectual development with poor or absent speech, epilepsy, variable microcephaly, hypotonia, and spastic cerebral palsy. Brain abnormalities include simplified gyral pattern, defects of the operculum, and vermian hypoplasia. Death in early childhood may occur." []
xref: MedGen:CN315948
xref: MeSH:D065886
xref: MIM:620001 "phenotype"
[Term]
id: DI-06483
name: Hypothyroidism, congenital, non-goitrous, 4
def: "A form of central hypothyroidism, a disorder characterized by insufficient stimulation by thyroid stimulating hormone of an otherwise normal thyroid gland. CHNG4 is an autosomal recessive form characterized by isolated thyrotropin deficiency that, if untreated, results in severe growth retardation and intellectual disability." []
synonym: "Pituitary cretinism" [UniProt]
synonym: "Thyroid-stimulating hormone deficiency" [UniProt]
synonym: "Thyrotropin deficiency, isolated" [UniProt]
synonym: "TSH deficiency" [UniProt]
xref: MedGen:C0271789
xref: MedGen:C3665349
xref: MeSH:D003409
xref: MIM:275100 "phenotype"
[Term]
id: DI-06484
name: Primordial dwarfism-immunodeficiency-lipodystrophy syndrome
def: "An autosomal recessive syndrome characterized by growth failure with in utero growth retardation and severe postnatal growth restriction, severe microcephaly, absence of subcutaneous fat, and significant haematological and immune dysfunction. Patients have hypo- or agammaglobulinemia, lymphopenia, anemia, and thrombocytopenia. Most affected individuals die in early childhood from either respiratory or gastrointestinal infections." []
xref: MedGen:CN315942
xref: MeSH:D004392
xref: MeSH:D007153
xref: MeSH:D008060
xref: MIM:620005 "phenotype"
[Term]
id: DI-06485
name: Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects
def: "An autosomal recessive disorder characterized by global developmental delay, intellectual disability, distal deformities with diminished reflexes, visible facial myokymia, and distinctive electromyographic features suggestive of motor nerve instability." []
xref: MedGen:CN315960
xref: MeSH:D008607
xref: MIM:620007 "phenotype"
[Term]
id: DI-06486
name: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
def: "An autosomal recessive disorder characterized by severe palmoplantar keratoderma, generalized ichthyosis, and sensorineural bilateral hearing loss. Additional variable features include contractures, mild bleeding diathesis, and psychomotor retardation." []
synonym: "ARKID syndrome" [UniProt]
xref: MedGen:CN315949
xref: MeSH:D006319
xref: MeSH:D007057
xref: MeSH:D007645
xref: MIM:620009 "phenotype"
[Term]
id: DI-06487
name: Cholestasis, progressive familial intrahepatic, 12
def: "A form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC12 is an autosomal recessive form characterized by neonatal-onset jaundice and conjugated hyperbilirubinemia, associated with intense pruritus." []
synonym: "Cholestasis, isolated low -GGT" [UniProt]
xref: MedGen:CN315950
xref: MeSH:D002780
xref: MIM:620010 "phenotype"
[Term]
id: DI-06488
name: Neuronopathy, distal hereditary motor, autosomal recessive 6
def: "A form of distal spinal muscular atrophy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMNR6 is characterized by onset of distal muscle weakness in early infancy. Affected individuals often present at birth with distal joint contractures or foot deformities and show delayed motor development, often with inability to walk or frequent falls. Patients often show respiratory distress or diaphragmatic palsy." []
synonym: "Distal spinal muscular atrophy, autosomal recessive, 6" [UniProt]
synonym: "DSMA6" [UniProt]
synonym: "Neuropathy, distal hereditary motor, autosomal recessive 6" [UniProt]
xref: MedGen:C5774201
xref: MeSH:D009134
xref: MIM:620011 "phenotype"
[Term]
id: DI-06489
name: Developmental delay, hypotonia, and impaired language
def: "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, language difficulties, hypotonia, and gastrointestinal problems. Brain imaging shows variable structural abnormalities affecting the cerebellum, corpus collosum, and white matter." []
xref: MedGen:CN315965
xref: MeSH:D065886
xref: MIM:620012 "phenotype"
[Term]
id: DI-06490
name: Lymphatic malformation 12
def: "A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM12 is an autosomal recessive, severe form often resulting in fetal or perinatal demise. It is characterized by dysfunction of core collecting lymphatic vessels, including the thoracic duct and cisterna chyli, non-immune hydrops fetalis, chylothorax, pleural effusions, and chylous ascites." []
synonym: "CCLA" [UniProt]
synonym: "Central conducting lymphatic anomaly" [UniProt]
xref: MedGen:CN315961
xref: MeSH:D008209
xref: MIM:620014 "phenotype"
[Term]
id: DI-06491
name: Arthrogryposis, distal, 11
def: "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA11 is an autosomal dominant form characterized mainly by camptodactyly. Other features include absent flexion creases and limited forearm supination." []
xref: MedGen:CN315964
xref: MeSH:D001176
xref: MIM:620019 "phenotype"
[Term]
id: DI-06492
name: Stickler syndrome 6
def: "A form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondyly and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. STL6 is an autosomal recessive form characterized by early-onset progressive hearing loss and progressive myopia, with variable manifestation of facial dysmorphism and skeletal anomalies." []
synonym: "Stickler syndrome, type VI" [UniProt]
xref: MedGen:CN315969
xref: MeSH:D003240
xref: MeSH:D005128
xref: MeSH:D034381
xref: MIM:620022 "phenotype"
[Term]
id: DI-06493
name: Melanoma, uveal, 1
def: "Most common intraocular malignancy, arising from melanocytes in the iris, ciliary body, or choroid. Metastases develop in more than 30% of case patients, almost invariably in the liver, with poor prognosis." []
xref: MedGen:C1847724
xref: MeSH:D008545
xref: MIM:606660 "phenotype"
[Term]
id: DI-06494
name: Melanoma, uveal, 2
def: "Most common intraocular malignancy, arising from melanocytes in the iris, ciliary body, or choroid. Metastases develop in more than 30% of case patients, almost invariably in the liver, with poor prognosis." []
xref: MedGen:C1847723
xref: MeSH:D008545
xref: MIM:606661 "phenotype"
[Term]
id: DI-06495
name: Retinitis pigmentosa 94, variable age at onset, autosomal recessive
def: "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field." []
xref: MedGen:C1858677
xref: MeSH:D012174
xref: MIM:604232 "phenotype"
[Term]
id: DI-06496
name: Intellectual developmental disorder with autism and dysmorphic facies
def: "An autosomal recessive neurodevelopmental disorder characterized by moderate to severe intellectual disability with autistic features, myopathy, and facial dysmorphism." []
xref: MedGen:CN315972
xref: MeSH:D065886
xref: MIM:620021 "phenotype"
[Term]
id: DI-06497
name: Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures
def: "An autosomal recessive neurodevelopmental disorder characterized by severe global developmental delay, impaired intellectual development, microcephaly, early-onset seizures, and movement abnormalities." []
xref: MedGen:CN316036
xref: MeSH:D065886
xref: MIM:620023 "phenotype"
[Term]
id: DI-06498
name: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
def: "An autosomal recessive disorder characterized by global developmental delay, severe to profound intellectual disability, progressive microcephaly, refractory early-onset epilepsy, white matter abnormalities, and periventricular calcifications." []
xref: MedGen:CN315973
xref: MeSH:D065886
xref: MIM:620024 "phenotype"
[Term]
id: DI-06499
name: Neurodevelopmental disorder with microcephaly, short stature, and speech delay
def: "An autosomal recessive disorder characterized by global developmental delay, short stature, severely impaired intellectual development, microcephaly, poor or absent speech, and behavioral abnormalities including autistic features and aggressive behavior." []
xref: MedGen:CN318218
xref: MeSH:D065886
xref: MIM:620027 "phenotype"
[Term]
id: DI-06500
name: Diaphragmatic hernia 4, with cardiovascular defects
def: "An autosomal recessive form of congenital diaphragmatic hernia, a posterolateral defect of the diaphragm, generally located on the left side, that permits the herniation of abdominal viscera into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects." []
xref: MedGen:CN316037
xref: MeSH:D065630
xref: MIM:620025 "phenotype"
[Term]
id: DI-06501
name: Developmental and epileptic encephalopathy 106
def: "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE106 is an autosomal recessive form characterized by onset of seizures in the first year of life. Affected individuals have profound global developmental delay, limited ability to move, and severely impaired intellectual development with absent speech. Non- specific brain abnormalities may be observed on MRI." []
xref: MedGen:CN318219
xref: MeSH:D013036
xref: MIM:620028 "phenotype"
[Term]
id: DI-06502
name: Developmental and epileptic encephalopathy 107
def: "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE107 is an autosomal recessive form characterized by onset of seizures in the first months of life. Affected individuals have severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia." []
xref: MedGen:CN320153
xref: MeSH:D013036
xref: MIM:620033 "phenotype"
[Term]
id: DI-06503
name: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
def: "An autosomal dominant disorder characterized by global developmental delay apparent from infancy, intellectual disability, poor or absent speech, behavioral abnormalities, and hypotonia with delayed walking or inability to walk. Additional features include epilepsy, mild skeletal defects, and non-specific dysmorphic features." []
xref: MedGen:CN322036
xref: MeSH:D065886
xref: MIM:620029 "phenotype"
[Term]
id: DI-06504
name: Ciliary dyskinesia, primary, 48, without situs inversus
def: "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD48 is an autosomal recessive form. No situs abnormalities have been observed." []
xref: MedGen:CN322038
xref: MeSH:D002925
xref: MIM:620032 "phenotype"
[Term]
id: DI-06505
name: Neurodevelopmental disorder with microcephaly, hypotonia, and absent language
def: "An autosomal recessive disorder characterized by microcephaly, intellectual disability with absent speech, severe developmental delay, short stature, and hypotonia. Affected individuals also manifest aggressive behavior and have hearing loss." []
xref: MedGen:CN322037
xref: MeSH:D065886
xref: MIM:620038 "phenotype"
[Term]
id: DI-06506
name: Dyskeratosis congenita, digenic
def: "A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. DKCD transmission pattern is consistent with digenic inheritance." []
xref: MedGen:CN322046
xref: MeSH:D019871
xref: MIM:620040 "phenotype"
[Term]
id: DI-06507
name: Bone marrow failure and diabetes mellitus syndrome
def: "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFDMS is an autosomal recessive form characterized by various degrees of bone marrow failure, ranging from dyserythropoiesis to bone marrow aplasia, with onset in infancy or early childhood, and non-autoimmune insulin-dependent diabetes mellitus appearing in the first or second decades. Many patients show pigmentary skin abnormalities and short stature." []
xref: MedGen:CN322047
xref: MeSH:D000080983
xref: MeSH:D003920
xref: MIM:620044 "phenotype"
[Term]
id: DI-06508
name: Intestinal dysmotility syndrome
def: "An autosomal recessive disorder characterized by impaired intestinal peristalsis, recurrent episodes of haemorrhagic diarrhea, and distention of intestinal loops. Intestinal and hepatic portal venous gas, dysmorphic features, and developmental delay may also be present." []
xref: MedGen:CN322040
xref: MeSH:D007410
xref: MIM:620045 "phenotype"
[Term]
id: DI-06509
name: Microcephaly 29, primary, autosomal recessive
def: "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH29 is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities. Affected individuals also have poor overall growth with short stature, mild dysmorphic facial features, and seizures." []
xref: MedGen:CN322045
xref: MeSH:D008831
xref: MIM:620047 "phenotype"
[Term]
id: DI-06510
name: Nephrotic syndrome 26
def: "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS26 is an autosomal recessive form characterized by onset of proteinuria in the first months or years of life. Some patients respond to steroids, whereas others show steroid resistance and progression to end-stage renal disease." []
xref: MedGen:CN322054
xref: MeSH:D009404
xref: MIM:620049 "phenotype"
[Term]
id: DI-06511
name: Familial apolipoprotein gene cluster deletion syndrome
def: "An autosomal dominant disorder of lipoprotein metabolism. Affected individuals do not produce ApoA-I, ApoC-III and ApoA-IV lipoproteins, have marked plasma high density lipoprotein (HDL) deficiency, and manifest premature atherosclerosis and coronary artery disease." []
xref: MedGen:CN322055
xref: MeSH:D000012
xref: MIM:620058 "phenotype"
[Term]
id: DI-06512
name: Immunodeficiency 108 with autoinflammation
def: "An autosomal recessive disorder characterized by autoinflammation and immune impairment of neutrophils, manifesting around adolescence. Affected individuals have recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers. Additional features include recurrent infections, particularly of the skin and nails, poor wound healing, and mild bleeding tendencies." []
synonym: "Pelger-Huet-like anomaly and episodic fever with abdominal pain" [UniProt]
xref: MedGen:C1850054
xref: MeSH:D007153
xref: MIM:260570 "phenotype"
[Term]
id: DI-06513
name: Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly
def: "An autosomal recessive disorder with onset in infancy and characterized by global developmental delay, intellectual disability, dysmorphic facial features, coarse facies, and behavioral problems. Affected individuals may have variable findings on brain imaging, such as cortical atrophy, thin corpus callosum and enlarged ventricles. Laboratory studies show nuclear lobulation defects in a subset of neutrophils, indicating a pseudo-Pelger-Huet anomaly." []
xref: MedGen:CN322317
xref: MeSH:D008607
xref: MIM:620075 "phenotype"
[Term]
id: DI-06514
name: Polycystic kidney disease 7
def: "A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occur in other organs, particularly the liver. PKD7 inheritance is autosomal dominant." []
xref: MedGen:CN322272
xref: MeSH:D007690
xref: MIM:620056 "phenotype"
[Term]
id: DI-06515
name: Retinitis pigmentosa 95
def: "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP95 is an autosomal recessive form characterized by pale optic disks, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation." []
xref: MedGen:CN322361
xref: MeSH:D012174
xref: MIM:620102 "phenotype"
[Term]
id: DI-06516
name: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2
def: "An autosomal recessive syndrome characterized by developmental delay with variably impaired intellectual development and speech delay, short stature, abnormal head circumference, dysmorphic facial features, and sparse scalp hair. Affected individuals may have other abnormalities, including congenital cardiac defects and distal skeletal anomalies." []
synonym: "Diphthamide deficiency syndrome 2" [UniProt]
xref: MedGen:CN322057
xref: MeSH:D001848
xref: MeSH:D008607
xref: MIM:620062 "phenotype"
[Term]
id: DI-06517
name: Developmental delay, behavioral abnormalities, and neuropsychiatric disorders
def: "An autosomal dominant disorder characterized by mild global developmental delay, normal or variably impaired intellectual development, and behavioral or neuropsychiatric disorders, including autism spectrum disorder, attention deficit-hyperactivity disorder, and executive functioning deficits. Additional features may include speech delay, dysmorphic features, hypotonia, sleep disturbances, and seizures." []
xref: MedGen:CN322275
xref: MeSH:D001848
xref: MeSH:D008607
xref: MIM:620065 "phenotype"
[Term]
id: DI-06518
name: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
def: "An autosomal recessive disorder characterized by global developmental delay, intellectual disability, facial dysmorphism, and microcephaly." []
xref: MedGen:CN322058
xref: MeSH:D008607
xref: MIM:620066 "phenotype"
[Term]
id: DI-06519
name: Cardiac valvular dysplasia 2
def: "An autosomal recessive form of congenital heart defects, characterized primarily by congenital stenosis and insufficiency of the semilunar valves, although mild insufficiency of the atrioventricular valves has been observed as well. Other features include subaortic stenosis and dilation of the ascending aorta and/or pulmonary artery in some patients." []
xref: MedGen:CN322059
xref: MeSH:D006349
xref: MIM:620067 "phenotype"
[Term]
id: DI-06520
name: Charcot-Marie-Tooth disease, axonal, 2II
def: "A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy." []
synonym: "Charcot-Marie-Tooth disease, axonal, type 2II" [UniProt]
synonym: "Charcot-Marie-Tooth neuropathy, type 2II" [UniProt]
xref: MedGen:CN322276
xref: MeSH:D002607
xref: MIM:620068 "phenotype"
[Term]
id: DI-06521
name: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
def: "An autosomal recessive disorder characterized by distinct craniofacial features, multisystem dysfunction, profound neurodevelopmental delays, and neonatal death." []
xref: MedGen:CN322274
xref: MeSH:D065886
xref: MIM:620070 "phenotype"
[Term]
id: DI-06522
name: Birk-Aharoni syndrome
def: "An autosomal recessive disorder characterized by failure to thrive, severe developmental delay, intellectual disability, spastic tetraplegia with central hypotonia, chorea, hearing loss, micropenis and undescended testes, as well as mild elevation of liver enzymes." []
synonym: "NEDGTH" [UniProt]
synonym: "Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss" [UniProt]
xref: MedGen:CN322301
xref: MeSH:D065886
xref: MIM:620071 "phenotype"
[Term]
id: DI-06523
name: Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
def: "An autosomal dominant disorder characterized by global developmental delay with impaired intellectual development and poor or absent speech, corpus callosum structural defects and cerebellar hypoplasia on brain imaging, poor overall growth, facial dysmorphism, and skeletal defects. Variable additional findings include hypotonia, seizures, and ocular defects." []
xref: MedGen:CN322299
xref: MeSH:D065886
xref: MIM:620073 "phenotype"
[Term]
id: DI-06524
name: Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
def: "An autosomal dominant disorder characterized by global developmental delay, severely impaired intellectual development with poor or absent speech, characteristic dysmorphic facial features, and variable skeletal abnormalities. Additional features include feeding difficulties, inability to walk or walking with an abnormal gait, and cerebellar or other abnormalities on brain imaging." []
xref: MedGen:CN322327
xref: MeSH:D065886
xref: MIM:620083 "phenotype"
[Term]
id: DI-06525
name: Neurodevelopmental disorder with eye movement abnormalities and ataxia
def: "An autosomal dominant disorder apparent from infancy and characterized by global developmental delay, intellectual disability, speech difficulties, ataxia, seizures, and abnormalities of eye movement." []
xref: MedGen:CN322365
xref: MeSH:D065886
xref: MIM:620094 "phenotype"
[Term]
id: DI-06526
name: Diamond-Blackfan anemia 21
def: "An autosomal recessive form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. DBA21 patients manifest bone marrow failure, short stature, facial and acromelic dysmorphic features, and intellectual disability." []
xref: MedGen:CN322290
xref: MeSH:D029503
xref: MIM:620072 "phenotype"
[Term]
id: DI-06527
name: Bent bone dysplasia syndrome 2
def: "An autosomal recessive bone dysplasia characterized by defects in both the axial and appendicular skeleton, with radiographic findings showing undermineralized bone and a distinct angulation of the mid femoral shaft. Extraskeletal features include facial dysmorphisms, abnormally formed ears with tags, wide spaced nipples, and atrial septal defects. Elbow fusions, ulnar flexion contractions at the wrist, bilateral talipes equinovarus, and failure to mount a respiratory effort at birth suggest abnormalities in muscle function." []
xref: MedGen:CN322300
xref: MeSH:D001848
xref: MIM:620076 "phenotype"
[Term]
id: DI-06528
name: Neuronopathy, distal hereditary motor, autosomal dominant 10
def: "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. HMND10 is characterized by length- dependent motor neuropathy primarily affecting the lower limbs, and onset of distal muscle weakness and atrophy in early childhood resulting in walking difficulties and gait abnormalities. Some affected individuals have pyramidal signs, including hyperreflexia. More variable features may include mild intellectual disability, minor gyration defects on brain imaging, foot deformities, and connective tissue defects." []
synonym: "DHMN10" [UniProt]
synonym: "HMN10" [UniProt]
synonym: "Neuronopathy, distal hereditary motor, 10" [UniProt]
synonym: "Neuronopathy, distal hereditary motor, type X" [UniProt]
synonym: "Neuropathy, distal hereditary motor, type X" [UniProt]
xref: MedGen:C5774234
xref: MeSH:D009134
xref: MIM:620080 "phenotype"
[Term]
id: DI-06529
name: Spermatogenic failure 76
def: "An autosomal recessive male infertility disorder characterized by oligoasthenoteratozoospermia, and abnormally shaped spermatozoa in the semen of affected individuals. Sperm flagella have multiple morphological abnormalities, including short, absent, and irregular caliber flagella." []
xref: MedGen:CN322310
xref: MeSH:D007248
xref: MIM:620084 "phenotype"
[Term]
id: DI-06530
name: Spermatogenic failure 77
def: "An autosomal recessive male infertility disorder characterized by oligozoospermia or azoospermia, and abnormally shaped spermatozoa in the semen of affected individuals. Sperm abnormalities include double and triple tails, with amorphous or fragmented and enlarged heads, as well as pinhead sperm. Testicular tissue shows arrest at the round spermatid stage." []
xref: MedGen:CN322363
xref: MeSH:D007248
xref: MIM:620103 "phenotype"
[Term]
id: DI-06531
name: Glioma 7
def: "Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes." []
xref: MedGen:C2751638
xref: MeSH:D005910
xref: MIM:613032 "phenotype"
[Term]
id: DI-06532
name: Intellectual developmental disorder with ocular anomalies and distinctive facial features
def: "An autosomal dominant disorder characterized by global developmental delay, mild intellectual disability, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features including long, upslanting palpebral fissures, bitemporal narrowing of the forehead, arched eyebrows, and epicanthal folds." []
xref: MedGen:CN322328
xref: MeSH:D065886
xref: MIM:620086 "phenotype"
[Term]
id: DI-06533
name: Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction
def: "An autosomal recessive disorder characterized primarily by global developmental delay and variably impaired intellectual development with speech delay apparent from infancy. Affected individuals have hypotonia, poor feeding, poor overall growth, and respiratory distress early in life. Other features include visual impairment due to optic atrophy, sensorineural hearing loss, and neuromuscular abnormalities. Features suggestive of a mitochondrial disorder include cataracts, cardiomyopathy, diabetes mellitus, combined oxidative phosphorylation deficiency, and increased lactate. Some patients develop seizures, some have dysmorphic facial features, and some have non-specific abnormalities on brain imaging. Death in childhood may occur." []
xref: MedGen:CN322360
xref: MeSH:D008607
xref: MeSH:D019636
xref: MeSH:D028361
xref: MIM:620089 "phenotype"
[Term]
id: DI-06534
name: Cleidocranial dysplasia 2
def: "A form of cleidocranial dysplasia, a rare skeletal disorder with significant clinical variability, even within families. Patients typically present with delayed closure of cranial sutures and fontanels with multiple Wormian bones, retarded ossification of the skull, shortening of the distal phalanges, dental anomalies including supernumerary teeth and eruption failure, clavicular hypoplasia or aplasia, wide pubic symphysis, vertebral anomalies, and short stature. Craniofacial features are subtle and characterized by prominent parietal and frontal bones, widely spaced eyes, depressed nasal bridge and small maxilla. Some CLCD2 patients present mild to moderate developmental delay. CLCD2 inheritance is autosomal dominant." []
xref: MedGen:CN322350
xref: MeSH:D002973
xref: MIM:620099 "phenotype"
[Term]
id: DI-06535
name: Amelogenesis imperfecta 1K
def: "A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. AI1K is an autosomal dominant form characterized by hypoplastic enamel in all teeth." []
synonym: "Amelogenesis imperfecta, hypoplastic type IK" [UniProt]
xref: MedGen:CN322364
xref: MeSH:D000567
xref: MIM:620104 "phenotype"
[Term]
id: DI-06536
name: Orofaciodigital syndrome 19
def: "A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD19 is an autosomal recessive form characterized by tongue nodules, dental and digital anomalies, narrow high-arched or cleft palate, and retrognathia. Some patients have notching of the upper or lower lip." []
synonym: "OFDS XIX" [UniProt]
synonym: "Oro-facio-digital syndrome, type XIX" [UniProt]
synonym: "Orofaciodigital syndrome XIX" [UniProt]
xref: MedGen:CN322366
xref: MeSH:D009958
xref: MIM:620107 "phenotype"
[Term]
id: DI-06537
name: Pseudohypoaldosteronism 1B2, autosomal recessive
def: "A form of pseudohypoaldosteronism type 1, a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. The disorder affects multiple organs, and is characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss." []
synonym: "Pseudohypoaldosteronism, type IB2, autosomal recessive" [UniProt]
xref: MedGen:CN322488
xref: MeSH:D011546
xref: MIM:620125 "phenotype"
[Term]
id: DI-06538
name: Pseudohypoaldosteronism 1B3, autosomal recessive
def: "A form of pseudohypoaldosteronism type 1, a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. The disorder affects multiple organs, and is characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss." []
synonym: "Pseudohypoaldosteronism, type IB3, autosomal recessive" [UniProt]
xref: MedGen:CN322489
xref: MeSH:D011546
xref: MIM:620126 "phenotype"
[Term]
id: DI-06539
name: Ichthyosis, annular epidermolytic, 2
def: "A form of annular epidermolytic ichthyosis, an autosomal dominant skin disorder characterized by polycyclic, migratory erythematous and scaly plaques. AEI2 patients manifest erythema and blistering of skin at birth that improves without scarring, as well as palmoplantar keratoderma." []
xref: MedGen:CN322561
xref: MeSH:D007057
xref: MIM:620148 "phenotype"
[Term]
id: DI-06540
name: Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
def: "A neurologic disorder characterized by variable combinations of epileptic seizure, and a varying degree of intellectual disability and developmental delay. Some patients have dysmorphic facial features or mild skeletal anomalies. In general, males are more severely affected than females, although there is evidence for incomplete penetrance in both sexes." []
xref: MedGen:CN322486
xref: MeSH:D004827
xref: MIM:301091 "phenotype"
[Term]
id: DI-06541
name: Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2
def: "A disorder apparent in infancy and characterized by euthyroid hypermetabolism, failure to thrive despite excessive caloric intake, intermittent hyperthermia, and developmental delay." []
xref: MedGen:CN322462
xref: MeSH:D008659
xref: MIM:620085 "phenotype"
[Term]
id: DI-06542
name: Developmental delay with variable intellectual disability and dysmorphic facies
def: "An autosomal dominant disorder characterized by various degrees of developmental delay, mild to moderate intellectual disability, learning difficulties, hypotonia, autistic features, behavior abnormalities, and dysmorphic facial features apparent from infancy or early childhood." []
xref: MedGen:CN322372
xref: MeSH:D065886
xref: MIM:620098 "phenotype"
[Term]
id: DI-06543
name: Spastic paraplegia 88, autosomal dominant
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG88 is characterized by onset of symptoms in the first year of life. Most SPG88 patients have a pure form of the disorder, although rarely patients may manifest additional features, including peripheral neuropathy, speech delay, attention deficit-hyperactivity disorder, and non-specific brain imaging abnormalities." []
xref: MedGen:CN322373
xref: MeSH:D015419
xref: MIM:620106 "phenotype"
[Term]
id: DI-06544
name: Charcot-Marie-Tooth disease, demyelinating, 1J
def: "An autosomal dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet." []
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1J" [UniProt]
xref: MedGen:CN322377
xref: MeSH:D002607
xref: MIM:620111 "phenotype"
[Term]
id: DI-06545
name: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities
def: "An autosomal recessive neurodevelopmental disorder characterized by developmental delay, intellectual disability, and absent speech. Patients have microcephaly, hypoplasia or agenesis of the corpus callosum, growth retardation, and craniofacial dysmorphism." []
xref: MedGen:CN322432
xref: MeSH:D065886
xref: MIM:620113 "phenotype"
[Term]
id: DI-06546
name: Neurodevelopmental disorder with speech impairment and with or without seizures
def: "An autosomal dominant disorder with variable manifestations. Severely affected individuals have profound global developmental delay, hypotonia, delayed or absent walking, absent speech, feeding difficulties, cortical visual impairment, and onset of hyperexcitability and seizures in the first months or years of life. Some patients manifest a milder phenotype characterized by mild to moderate cognitive impairment and mild speech delay, usually without seizures." []
xref: MedGen:CN322434
xref: MeSH:D065886
xref: MIM:620114 "phenotype"
[Term]
id: DI-06547
name: Developmental and epileptic encephalopathy 108
def: "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE108 is an autosomal dominant form characterized by the onset of multiple types of seizures in the first 2 years of life." []
xref: MedGen:CN322463
xref: MeSH:D013036
xref: MIM:620115 "phenotype"
[Term]
id: DI-06548
name: Iron overload
def: "A disorder of iron homeostasis with incomplete and age-dependent penetrance. It is characterized by adult onset of increased hepatic and systemic iron levels, increased serum ferritin, normal or high transferrin saturation, and inappropriately low or normal levels of hepcidin. The severity of the phenotype depends on age, sex, as well as additional genetic or acquired factors including alcohol consumption and increased body weight." []
xref: MedGen:CN322493
xref: MeSH:D019190
xref: MIM:620121 "phenotype"
[Term]
id: DI-06549
name: Dyskeratosis congenita, autosomal recessive, 8
def: "A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. Additional DKCB8 features include microcephaly, intrauterine growth retardation, and developmental anomalies in some patients. DKCB8 patients exhibit normal global telemore length, although there is evidence of telomere instability." []
xref: MedGen:CN322494
xref: MeSH:D019871
xref: MIM:620133 "phenotype"
[Term]
id: DI-06550
name: Mitochondrial complex I deficiency, nuclear type 39
def: "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN39 is an autosomal recessive form characterized by intrauterine growth retardation, anemia, and postpartum hypertrophic cardiomyopathy, lactic acidosis, encephalopathy, and a severe complex I defect with a fatal outcome." []
xref: MedGen:CN322490
xref: MeSH:D028361
xref: MIM:620135 "phenotype"
[Term]
id: DI-06551
name: Mitochondrial complex III deficiency, nuclear type 11
def: "A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. MC3DN11 is an autosomal recessive form characterized by recurrent episodes of severe lactic acidosis, hyperammonemia, hypoglycemia, and encephalopathy." []
xref: MedGen:CN322495
xref: MeSH:D028361
xref: MIM:620137 "phenotype"
[Term]
id: DI-06552
name: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
def: "An autosomal recessive muscular disorder characterized by mild muscle weakness, early fatigue after mild to moderate physical exertion, exercise-induced muscle pain, variable susceptibility to episodes of rhabdomyolysis, and elevated serum creatine kinase levels. Rarely, affected individuals may demonstrate cardiac involvement, including left ventricular dysfunction or rhythm abnormalities." []
xref: MedGen:CN322496
xref: MeSH:D009135
xref: MIM:620138 "phenotype"
[Term]
id: DI-06553
name: Combined oxidative phosphorylation deficiency 56
def: "An autosomal recessive mitochondrial disease characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis." []
xref: MedGen:CN322492
xref: MeSH:D028361
xref: MIM:620139 "phenotype"
[Term]
id: DI-06554
name: Developmental delay, language impairment, and ocular abnormalities
def: "An autosomal dominant disorder characterized by mild motor delay, mildly impaired intellectual development, and significant speech impairment. Most affected individuals have microcephaly and may have mild dysmorphic features. Variable ocular anomalies include strabismus, cataracts, and cortical visual impairment." []
xref: MedGen:CN322497
xref: MeSH:D065886
xref: MIM:620141 "phenotype"
[Term]
id: DI-06555
name: Ichthyosis histrix, Lambert type
def: "An autosomal dominant form of ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling. IHL is characterized by normal skin at birth that develops striking spiny hyperkeratotic lesions within a few months. There is sparing of the face, palms, and soles, and affected individuals do not experience blistering." []
synonym: "Ichthyosis hystrix gravior" [UniProt]
synonym: "Porcupine man" [UniProt]
xref: MedGen:C0432311
xref: MeSH:D007057
xref: MIM:146600 "phenotype"
[Term]
id: DI-06556
name: Spinocerebellar ataxia 27B, late-onset
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA27B is an autosomal dominant, slowly progressive form characterized by the onset of gait and appendicular ataxia in adulthood." []
xref: MedGen:CN322670
xref: MeSH:D020754
xref: MIM:620174 "phenotype"
[Term]
id: DI-06557
name: Developmental and epileptic encephalopathy 109
def: "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE109 is an autosomal dominant form characterized by the onset of various types of seizures in the first months or years of life." []
xref: MedGen:CN322562
xref: MeSH:D013036
xref: MIM:620145 "phenotype"
[Term]
id: DI-06558
name: Developmental and epileptic encephalopathy 110
def: "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE110 is an autosomal recessive form characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life." []
xref: MedGen:CN322563
xref: MeSH:D013036
xref: MIM:620149 "phenotype"
[Term]
id: DI-06559
name: Hypomagnesemia 7, renal, with or without dilated cardiomyopathy
def: "An autosomal dominant renal disease characterized by hypomagnesemia, hypokalemia, salt wasting, and nephrocalcinosis. A subset of patients develop severe dilated cardiomyopathy." []
xref: MedGen:CN322565
xref: MeSH:D015499
xref: MIM:620152 "phenotype"
[Term]
id: DI-06560
name: Mosaic variegated aneuploidy syndrome 4
def: "A form of mosaic variegated aneuploidy syndrome, a severe disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. MVA4 inheritance is autosomal recessive." []
xref: MedGen:CN322564
xref: MeSH:D025063
xref: MIM:620153 "phenotype"
[Term]
id: DI-06561
name: Oocyte/zygote/embryo maturation arrest 13
def: "An autosomal recessive female infertility disorder characterized by embryonic development arrest and embryo implantation failure." []
synonym: "Oocyte maturation defect 13" [UniProt]
synonym: "OOMD13" [UniProt]
xref: MedGen:CN322566
xref: MeSH:D007247
xref: MIM:620154 "phenotype"
[Term]
id: DI-06562
name: Microcephaly 30, primary, autosomal recessive
def: "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH30 is characterized by small head, poor overall growth, and global developmental delay with variably impaired intellectual development. Affected individuals may also have variable congenital anomalies, including atrial septal defect, dysmorphic facial features, tracheal stenosis, and anomalies of the skin and teeth." []
xref: MedGen:CN322671
xref: MeSH:D008831
xref: MIM:620183 "phenotype"
[Term]
id: DI-06563
name: Rabin-Pappas syndrome
def: "An autosomal dominant neurodevelopmental disorder characterized by severely impaired global development, intellectual disability, microcephaly, facial dysmorphism, and variable congenital anomalies affecting the skeletal, genitourinary, cardiac, and other organ systems." []
xref: MedGen:CN322640
xref: MeSH:D065886
xref: MIM:620155 "phenotype"
[Term]
id: DI-06564
name: Cortical dysplasia, complex, with other brain malformations 11
def: "An autosomal recessive disorder of aberrant neuronal migration during brain development. CDCBM11 is characterized by dilated ventricles and reduced white matter, and is associated with axonal developmental defects." []
xref: MedGen:CN322567
xref: MeSH:D054220
xref: MIM:620156 "phenotype"
[Term]
id: DI-06565
name: Intellectual developmental disorder, autosomal dominant 70
def: "An autosomal dominant disorder characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities." []
xref: MedGen:CN322641
xref: MeSH:D008607
xref: MIM:620157 "phenotype"
[Term]
id: DI-06566
name: Spinocerebellar ataxia 50
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA50 is an autosomal dominant form characterized by cerebellar ataxia, oculomotor apraxia and other eye movement abnormalities, and cerebellar atrophy on brain imaging." []
xref: MedGen:CN322654
xref: MeSH:D020754
xref: MIM:620158 "phenotype"
[Term]
id: DI-06567
name: Hypotrichosis 15
def: "A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT15 is an autosomal recessive form characterized by sparse to absent scalp and body hair. Eyebrows and eyelashes may be sparse or absent as well." []
xref: MedGen:CN322667
xref: MeSH:D007039
xref: MIM:620177 "phenotype"
[Term]
id: DI-06568
name: Tooth agenesis, selective, 10
def: "A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). STHAG10 inheritance is autosomal recessive." []
xref: MedGen:CN322655
xref: MeSH:D000848
xref: MIM:620173 "phenotype"
[Term]
id: DI-06569
name: Spermatogenic failure 78
def: "An autosomal recessive, male infertility disorder characterized by a high proportion of sperm head anomalies, primarily tapered and microcephalic heads, and an abnormal acrosome structure." []
xref: MedGen:CN322644
xref: MeSH:D007248
xref: MIM:620170 "phenotype"
[Term]
id: DI-06570
name: Congenital myopathy 15
def: "An autosomal dominant myopathy characterized by neonatal onset of hypotonia, muscle weakness, and respiratory muscle involvement resulting in severe respiratory insufficiency. The disorder improves over time, although forced vital capacity remains decreased. Other features include facial weakness, often with ptosis or external ophthalmoplegia, jaw or distal joint contractures, scoliosis, and osteopenia." []
synonym: "MYONRI" [UniProt]
synonym: "Myopathy, congenital, with neonatal respiratory insufficiency" [UniProt]
xref: MedGen:CN322668
xref: MeSH:D009135
xref: MIM:620161 "phenotype"
[Term]
id: DI-06571
name: Muscular dystrophy, congenital, with or without seizures
def: "An autosomal recessive muscular dystrophy characterized by hypotonia and elevated serum creatine kinase levels apparent from birth. Patients have progressive muscle weakness, areflexia, and may develop seizures in early childhood or have abnormal epileptiform findings on electroencephalogram studies." []
xref: MedGen:CN322669
xref: MeSH:D009136
xref: MIM:620166 "phenotype"
[Term]
id: DI-06572
name: Lacrimo-auriculo-dento-digital syndrome 2
def: "A form of lacrimo-auriculo-dento-digital syndrome, an autosomal dominant disease characterized by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. In addition to these cardinal features, facial dysmorphism, malformations of the kidney and respiratory system and abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed." []
synonym: "Lacrimoauriculodentodigital syndrome 2" [UniProt]
synonym: "LADD syndrome 2" [UniProt]
xref: MedGen:CN322764
xref: MeSH:D000015
xref: MeSH:D007766
xref: MeSH:D014071
xref: MeSH:D034381
xref: MIM:620192 "phenotype"
[Term]
id: DI-06573
name: Lacrimo-auriculo-dento-digital syndrome 3
def: "A form of lacrimo-auriculo-dento-digital syndrome, an autosomal dominant disease characterized by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. In addition to these cardinal features, facial dysmorphism, malformations of the kidney and respiratory system and abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed." []
xref: MedGen:CN322763
xref: MeSH:D000015
xref: MeSH:D007766
xref: MeSH:D014071
xref: MeSH:D034381
xref: MIM:620193 "phenotype"
[Term]
id: DI-06574
name: Spastic paraplegia 79A, autosomal dominant, with ataxia
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG79A is a slowly progressive form characterized by late-onset spastic ataxia, neuropathy, and often optic atrophy." []
xref: MedGen:CN323172
xref: MeSH:D015418
xref: MIM:620221 "phenotype"
[Term]
id: DI-06575
name: Hijazi-Reis syndrome
def: "A neurodevelopmental disorder characterized by hypotonia, abnormal gait, developmental delay, intellectual disability especially affecting expressive language, and autistic behavior. Additional features include facial dysmorphism,ocular anomalies, and gastrointestinal issues. Rare patients have seizures. Disease severity is variable. Males tend to be more severely affected than females." []
synonym: "NEDGFAX" [UniProt]
synonym: "Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked" [UniProt]
xref: MedGen:CN323006
xref: MeSH:D065886
xref: MIM:301094 "phenotype"
[Term]
id: DI-06576
name: Intellectual developmental disorder, X-linked 110
def: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period." []
xref: MedGen:CN322943
xref: MeSH:D065886
xref: MIM:301095 "phenotype"
[Term]
id: DI-06577
name: Combined oxidative phosphorylation deficiency 57
def: "An autosomal recessive mitochondrial disease characterized by multisystemic features including encephalopathy, neurodevelopmental regression, ocular anomalies, decreased vision, auditory neuropathy, sensorineural hearing loss, and cardiac defects. Disease severity is variable, ranging from premature death in infancy to permanent disability in young adulthood." []
xref: MedGen:CN322762
xref: MeSH:D028361
xref: MIM:620167 "phenotype"
[Term]
id: DI-06578
name: Deafness, autosomal dominant, 85
def: "A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA85 is characterized by progressive hearing loss, with onset in childhood or young adulthood." []
xref: MedGen:CN323173
xref: MeSH:D006319
xref: MIM:620227 "phenotype"
[Term]
id: DI-06579
name: Spermatogenic failure 79
def: "An autosomal recessive, male infertility disorder characterized by asthenoteratozoospermia with acrosome hypoplasia, disruption of the mitochondrial sheath, and reduced progressive sperm motility. The disorder is due to an abnormal acrosome reaction and impaired membrane potential after capacitation." []
xref: MedGen:CN322769
xref: MeSH:D007248
xref: MIM:620196 "phenotype"
[Term]
id: DI-06580
name: Spermatogenic failure 80
def: "An autosomal recessive, male infertility disorder characterized by reduced or absent progressive sperm motility due to multiple morphologic abnormalities of the flagella, including short, coiled, absent, and irregular-caliber flagella." []
xref: MedGen:CN323007
xref: MeSH:D007248
xref: MIM:620222 "phenotype"
[Term]
id: DI-06581
name: Retinitis pigmentosa 96
def: "An autosomal dominant form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field." []
xref: MedGen:CN323194
xref: MeSH:D012174
xref: MIM:620228 "phenotype"
[Term]
id: DI-06582
name: Atelis syndrome 1
def: "A form of Atelis syndrome, an autosomal recessive neurodevelopmental disorder characterized by mild to severe developmental delay, learning difficulties, microcephaly, and growth restriction with short stature. Additional features include anemia, skin hyperpigmentation, ocular anomalies, congenital heart defects, and mild skeletal abnormalities. Death in childhood may occur. Patient cells show spontaneous chromosome breakage and chromosomal anomalies, hallmarked by segmented and dicentric chromosomes and mosaic variegated hyperploidy." []
synonym: "Mosaic variegated aneuploidy syndrome 5" [UniProt]
synonym: "MVA5" [UniProt]
synonym: "Poor growth, microcephaly, developmental delay, and anemia" [UniProt]
xref: MedGen:CN322767
xref: MeSH:D025063
xref: MeSH:D065886
xref: MIM:620184 "phenotype"
[Term]
id: DI-06583
name: Atelis syndrome 2
def: "A form of Atelis syndrome, an autosomal recessive neurodevelopmental disorder characterized by mild to severe developmental delay, learning difficulties, microcephaly, and growth restriction with short stature. Additional features include anemia, skin hyperpigmentation, ocular anomalies, congenital heart defects, and mild skeletal abnormalities. Death in childhood may occur. Patient cells show spontaneous chromosome breakage and chromosomal anomalies, hallmarked by segmented and dicentric chromosomes and mosaic variegated hyperploidy." []
synonym: "Mosaic variegated aneuploidy syndrome 6" [UniProt]
synonym: "MVA6" [UniProt]
synonym: "Poor growth, microcephaly, dysmorphic facies, and cardiac defects" [UniProt]
xref: MedGen:CN322768
xref: MeSH:D025063
xref: MeSH:D065886
xref: MIM:620185 "phenotype"
[Term]
id: DI-06584
name: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
def: "An autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, delayed or absent pubertal development, and thyroid abnormalities. Additional features may include developmental delay, growth failure and short stature." []
xref: MedGen:CN322761
xref: MeSH:D000015
xref: MeSH:D003409
xref: MIM:620186 "phenotype"
[Term]
id: DI-06585
name: Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition
def: "A form of mosaic variegated aneuploidy syndrome, a severe disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. MVA7 is an autosomal recessive form characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood. Affected individuals show dysmorphic facies and may have early developmental delay." []
xref: MedGen:CN322838
xref: MeSH:D025063
xref: MIM:620189 "phenotype"
[Term]
id: DI-06586
name: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities
def: "An autosomal recessive neurodevelopmental disorder characterized by severe developmental and speech delay, dysmorphic facial features, ear anomalies, high arched palate, strabismus, hypotonia, and keratosis pilaris. Early obesity and seizures may be present in affected individuals." []
xref: MedGen:CN322830
xref: MeSH:D065886
xref: MIM:620191 "phenotype"
[Term]
id: DI-06587
name: Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies
def: "An autosomal recessive neurodevelopmental disorder characterized by severe global developmental delay, brain malformation, microcephaly, growth deficiency, and distinct facial dysmorphism. Disease severity is variable and death in infancy may occur." []
xref: MedGen:CN322770
xref: MeSH:D065886
xref: MIM:620194 "phenotype"
[Term]
id: DI-06588
name: Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
def: "An autosomal recessive disorder characterized by moderate to severe global developmental delay, facial dysmorphism, and ischiopubic synchondrosis hypoplasia. Affected individuals show infection- triggered lymphopenia, and loss of developmental milestones associated with epileptic spasms. Diminished white matter volume, enlarged ventricles, and thin corpus callosum are visible on brain imaging." []
xref: MedGen:CN323171
xref: MeSH:D065886
xref: MIM:620210 "phenotype"
[Term]
id: DI-06589
name: Obesity and hypopigmentation
def: "An autosomal dominant disorder characterized by early-onset obesity, overgrowth, hyperinsulinemia, and hypopigmentation of the skin. Some affected individuals experience hyperphagia and exhibit reduced energy expenditure." []
xref: MedGen:CN322831
xref: MeSH:D009765
xref: MIM:620195 "phenotype"
[Term]
id: DI-06590
name: Ciliary dyskinesia, primary, 49, without situs inversus
def: "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD49 is an autosomal recessive form without situs abnormalities. Affected males also show infertility due to defective flagellar morphology and function." []
xref: MedGen:CN322839
xref: MeSH:D002925
xref: MIM:620197 "phenotype"
[Term]
id: DI-06591
name: Hyperinsulinemic hypoglycemia, familial, 8
def: "A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF8 is an autosomal recessive form characterized by episodes of symptomatic hypoglycemia provoked by protein feeding, and persistent mild hyperammonemia. Affected children tend to have recurrent generalized seizures." []
xref: MedGen:CN323170
xref: MeSH:D006946
xref: MeSH:D007003
xref: MIM:620211 "phenotype"
[Term]
id: DI-06592
name: Inflammatory poikiloderma with hair abnormalities and acral keratoses
def: "An autosomal recessive disorder characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses." []
xref: MedGen:CN322829
xref: MeSH:D012871
xref: MIM:620199 "phenotype"
[Term]
id: DI-06593
name: Congenital disorder of glycosylation 2Y
def: "A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2Y is an autosomal recessive form characterized by poor overall growth and global developmental delay with impaired intellectual development. Other features may include hypotonia, seizures, brain imaging abnormalities, dysmorphic features, and various skeletal defects." []
synonym: "Congenital disorder of glycosylation, type IIy" [UniProt]
xref: MedGen:CN322950
xref: MeSH:D018981
xref: MIM:620200 "phenotype"
[Term]
id: DI-06594
name: Congenital disorder of glycosylation 2Z
def: "A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2Z is an autosomal recessive form characterized by a predominantly neurological phenotype with psychomotor disability, hypotonia, epilepsy and structural brain abnormalities. Biochemically, CDG2Z is characterized by combined O- and N-linked glycosylation defects." []
synonym: "Congenital disorder of glycosylation, type IIz" [UniProt]
xref: MedGen:CN322951
xref: MeSH:D018981
xref: MIM:620201 "phenotype"
[Term]
id: DI-06595
name: Cardiomyopathy, dilated, 2H
def: "A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2H is an autosomal recessive form characterized by rapid progression and death in early infancy." []
xref: MedGen:CN322941
xref: MeSH:D002311
xref: MIM:620203 "phenotype"
[Term]
id: DI-06596
name: Cone-rod dystrophy 23
def: "An autosomal recessive form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors." []
xref: MedGen:C3150691
xref: MeSH:D000071700
xref: MIM:613428 "phenotype"
[Term]
id: DI-06597
name: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures
def: "An autosomal dominant disorder characterized by global developmental delay, moderate to severely impaired intellectual development, poor or absent speech, congenital hypotonia, dysmorphic facial features, exotropia, and musculoskeletal issues such as hip dysplasia, hip dislocation and scoliosis. About half of patients develop various types of seizures." []
xref: MedGen:CN323205
xref: MeSH:D065886
xref: MIM:620224 "phenotype"
[Term]
id: DI-06598
name: Short QT syndrome 7
def: "An autosomal dominant form of short QT syndrome, a heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It can cause syncope and sudden death." []
xref: MedGen:CN323197
xref: MeSH:D001145
xref: MIM:620231 "phenotype"
[Term]
id: DI-06599
name: Joint contractures, osteochondromas, and B-cell lymphoma
def: "An autosomal recessive disorder characterized by musculoskeletal and hematopoietic issues. Affected individuals develop painless fixed joint contractures in early childhood, have osteochondromas, osteopenia, and can develop B-cell lymphomas." []
xref: MedGen:CN323201
xref: MeSH:D009140
xref: MeSH:D015831
xref: MeSH:D016393
xref: MIM:620232 "phenotype"
[Term]
id: DI-06600
name: Respiratory infections, recurrent, and failure to thrive with or without diarrhea
def: "An autosomal recessive disorder characterized by neonatal onset of recurrent pulmonary infections, coughing, wheezy episodes, interstitial lung disease, and bronchiectasis. Episodes of vomiting and chronic diarrhea result in failure to thrive. Results of sweat chloride and pancreatic elastase tests are normal." []
xref: MedGen:CN323198
xref: MeSH:D003967
xref: MeSH:D012141
xref: MIM:620233 "phenotype"
[Term]
id: DI-06601
name: Rhabdomyolysis 1
def: "An autosomal recessive disorder characterized by severe and recurrent rhabdomyolysis, usually with onset in the teenage years. Some of the episodes may be triggered by exercise or heat; others occur spontaneously. Rhabdomyolysis is the rapid breakdown of damaged or injured skeletal myofibres and may require intensive care management. Muscle breakdown results in release of myofibrillar content into the extracellular space and circulation, resulting in hyperCKemia (hyperCK) and myoglobinuria. RHABDO1 patients may have a history of myalgia and muscle cramps that precede the initial rhabdomyolysis episodes." []
xref: MedGen:CN323202
xref: MeSH:D012206
xref: MIM:620235 "phenotype"
[Term]
id: DI-06602
name: Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies
def: "A form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH29 is an autosomal recessive form associated with a poor prognosis due to lethal arrhythmias and cardiac failure. Cardiac muscle biopsies show intermyofibrillar accumulation of glycogen and polyglucosan bodies within cardiomyocytes. Intermyofibrillar glycogen accumulation is also present in skeletal muscle." []
xref: MedGen:CN323199
xref: MeSH:D024741
xref: MIM:620236 "phenotype"
[Term]
id: DI-06603
name: Cardiomyopathy, dilated, 1OO
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1OO inheritance is autosomal dominant." []
xref: MedGen:CN323380
xref: MeSH:D002311
xref: MIM:620247 "phenotype"
[Term]
id: DI-06604
name: Intellectual developmental disorder, autosomal recessive 78
def: "An autosomal recessive neurodevelopmental disorder characterized by usually mild intellectual disability, microcephaly, and short stature. Additional features may include ocular abnormalities and mild skeletal defects." []
xref: MedGen:CN323272
xref: MeSH:D008607
xref: MIM:620237 "phenotype"
[Term]
id: DI-06605
name: Deafness, autosomal recessive, 120
def: "A form of non-syndromic deafness characterized by congenital or prelingual onset of severe to profound sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN323203
xref: MeSH:D006319
xref: MIM:620238 "phenotype"
[Term]
id: DI-06606
name: Hydrocephalus, congenital, 5
def: "A form of congenital hydrocephalus, a disease characterized by in utero onset of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC5 is an autosomal dominant form with incomplete penetrance and variable expressivity, associated with aqueductal stenosis apparent from birth. Some patients may have neurodevelopmental delay, seizures, or structural brain abnormalities." []
xref: MedGen:CN323379
xref: MeSH:D006849
xref: MIM:620241 "phenotype"
[Term]
id: DI-06607
name: Developmental delay with hypotonia, myopathy, and brain abnormalities
def: "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay and muscle weakness apparent in infancy, microcephaly, seizures, central hypotonia, and skeletal muscle myopathy. Brain imaging shows cerebral atrophy, thinning of the corpus callosum, and delayed myelination." []
xref: MedGen:CN323357
xref: MeSH:D065886
xref: MIM:620240 "phenotype"
[Term]
id: DI-06608
name: Neurodevelopmental disorder with poor growth and behavioral abnormalities
def: "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, absent speech, and behavioral abnormalities, including hyperactivity and attention deficit disorder. Affected individuals show failure to thrive with poor overall growth, and some have microcephaly. Additional features may include non-specific facial dysmorphism, hypotonia, and feeding difficulties." []
xref: MedGen:CN323359
xref: MeSH:D065886
xref: MIM:620242 "phenotype"
[Term]
id: DI-06609
name: Leukodystrophy, hypomyelinating, 25
def: "A form of hypomyelinating leukodystrophy, a group of heterogeneous disorders characterized by persistent deficit of myelin observed on brain imaging. HLD25 is an autosomal dominant form with onset in early infancy and characterized by nystagmus, hypotonia, and delayed global development. Most patients show gradual clinical improvement over time with resolution of the nystagmus in early childhood. Many achieve developmental milestones and may have normal cognition, although some affected individuals may have persistent neurologic deficits. Brain imaging shows hypomyelination that may also improve with time." []
xref: MedGen:CN323365
xref: MeSH:D020279
xref: MIM:620243 "phenotype"
[Term]
id: DI-06610
name: Cataract 50 with or without glaucoma
def: "A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT50 is an autosomal dominant form characterized by early onset. Affected individuals may also exhibit high-tension glaucoma and variable anterior segment defects." []
xref: MedGen:CN323383
xref: MeSH:D002386
xref: MIM:620253 "phenotype"
[Term]
id: DI-06611
name: Lymphatic malformation 13
def: "A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM13 is an autosomal recessive form characterized by fetal onset of pleural and peritoneal effusions and the presence of moderate to severe non-immune hydrops fetalis that often resolves with age. Affected individuals show relatively normal growth and development, apart from mild ascites and hemangiomas. Most patients have congenital cardiac defects." []
synonym: "Hydrops fetalis, nonimmune, with cardiac defects and hemangiomas" [UniProt]
xref: MedGen:CN323358
xref: MeSH:D008209
xref: MIM:620244 "phenotype"
[Term]
id: DI-06612
name: Episodic kinesigenic dyskinesia 3
def: "A form of paroxysmal kinesigenic dyskinesia, a neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements. These attacks can involve dystonic postures, chorea, or athetosis. EKD3 is an autosomal dominant form with incomplete penetrance and onset in late childhood or early adolescence. Symptoms are usually triggered by sudden movement or stress, and resolve in most patients in their early twenties or later." []
synonym: "Dystonia 36" [UniProt]
synonym: "DYT36" [UniProt]
xref: MedGen:CN323378
xref: MeSH:D004421
xref: MIM:620245 "phenotype"
[Term]
id: DI-06613
name: Congenital myopathy 18
def: "A congenital myopathy of variable severity, ranging from severe fetal akinesia to milder forms of muscle weakness. Most affected individuals show delayed motor development with generalized hypotonia and progressive axial and limb muscle weakness beginning soon after birth or in infancy. Additional features may include swallowing difficulties, external ophthalmoplegia, ptosis, high-arched palate, and respiratory insufficiency. Muscle biopsy shows variable morphologic abnormalities, including alveolar changes in the intermyofibrillar network, fiber size variability, focal disorganization, internal nuclei, and dilated sarcoplasmic reticulum and T-tubules. CMYO18 inheritance is autosomal dominant or recessive." []
synonym: "DHPR congenital myopathy" [UniProt]
synonym: "DHPRM" [UniProt]
synonym: "Dihydropyridine receptor congenital myopathy" [UniProt]
synonym: "Myopathy, congenital, due to dihydropyridine receptor defect" [UniProt]
xref: MedGen:CN323391
xref: MeSH:D020512
xref: MIM:620246 "phenotype"
[Term]
id: DI-06614
name: Deafness, autosomal dominant, 86
def: "A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA86 is characterized by progressive, bilateral hearing loss that is most predominant in the high frequencies, begins mildly during the fourth decade and gradually progresses to severe-to-profound deafness in the seventh and eighth decades. Affected subjects have tinnitus, while vestibular dysfunction or other clinical abnormalities are not present." []
xref: MedGen:CN323707
xref: MeSH:D006319
xref: MIM:620280 "phenotype"
[Term]
id: DI-06615
name: Deafness, autosomal dominant, 87
def: "A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA87 is characterized by prelingual, profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct." []
xref: MedGen:CN323708
xref: MeSH:D006319
xref: MIM:620281 "phenotype"
[Term]
id: DI-06616
name: Deafness, autosomal dominant, 88
def: "A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA88 is characterized by postlingual, progressive and severe hearing loss with tinnitus." []
xref: MedGen:CN323709
xref: MeSH:D006319
xref: MIM:620283 "phenotype"
[Term]
id: DI-06617
name: Spermatogenic failure, X-linked, 5
def: "A male infertility disorder characterized by reduced progressive sperm motility and multiple morphologic sperm abnormalities, resulting in asthenoteratozoospermia." []
xref: MedGen:CN323713
xref: MeSH:D007248
xref: MIM:301099 "phenotype"
[Term]
id: DI-06618
name: Spermatogenic failure, X-linked, 6
def: "A male infertility disorder due to asthenoteratozoospermia and characterized by reduced progressive sperm motility and morphologic sperm abnormalities, such as thin heads and short or coiled flagella." []
xref: MedGen:CN323714
xref: MeSH:D007248
xref: MIM:301101 "phenotype"
[Term]
id: DI-06619
name: Spermatogenic failure 81
def: "A male infertility disorder due to oligoasthenoteratozoospermia and characterized by reduced progressive sperm motility. Patient spermatozoa exhibit acrosomal hypoplasia and detachment of the acrosome from the sperm head." []
xref: MedGen:CN323666
xref: MeSH:D007248
xref: MIM:620277 "phenotype"
[Term]
id: DI-06620
name: Congenital myopathy 10B, mild variant
def: "An autosomal recessive skeletal muscle disorder characterized by infantile or childhood onset of proximal and distal weakness of upper and lower limbs, facial weakness, areflexia, dysphagia, and respiratory distress. Muscle biopsy shows myopathic changes including type 1 fiber predominance, minicore lesions, and myofibrillar disorganization." []
synonym: "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant" [UniProt]
xref: MedGen:C3541476
xref: MeSH:D020512
xref: MIM:620249 "phenotype"
[Term]
id: DI-06621
name: Congenital myopathy 2B, severe infantile, autosomal recessive
def: "An autosomal recessive skeletal muscle disorder characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood. Longer survival has been reported." []
xref: MedGen:CN323652
xref: MeSH:D020512
xref: MIM:620265 "phenotype"
[Term]
id: DI-06622
name: Congenital myopathy 2C, severe infantile, autosomal dominant
def: "An autosomal dominant skeletal muscle disorder characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life. Patients present at birth with hypotonia, lack of antigravity movements, poor head control, and difficulties feeding or breathing, often requiring tube-feeding and mechanical ventilation. Decreased fetal movements may be observed in some cases." []
xref: MedGen:CN323668
xref: MeSH:D020512
xref: MIM:620278 "phenotype"
[Term]
id: DI-06623
name: Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
def: "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, hypotonia, and seizures. Other features include peripheral spasticity with hyperreflexia, variable dysmorphic features, impaired intellectual development, behavioral abnormalities, and hypoplasia or absence of the corpus callosum on brain imaging." []
xref: MedGen:CN323717
xref: MeSH:D065886
xref: MIM:620250 "phenotype"
[Term]
id: DI-06624
name: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia
def: "A form of hypomyelinating leukodystrophy, a group of heterogeneous disorders characterized by persistent deficit of myelin observed on brain imaging. HLD26 is an autosomal recessive form characterized by severe psychomotor delay, limited or absent speech, abnormal development of brain white matter, corpus callosum hypoplasia, and cerebral atrophy. Other features include pre- and postnatal growth retardation, chondrodysplasia, and early-onset scoliosis." []
xref: MedGen:CN323397
xref: MeSH:D020279
xref: MIM:620269 "phenotype"
[Term]
id: DI-06625
name: Deafness, autosomal dominant, 89
def: "An autosomal dominant form of non-syndromic deafness characterized by progressive hearing loss, with onset at birth or early childhood." []
xref: MedGen:CN323706
xref: MeSH:D006319
xref: MIM:620284 "phenotype"
[Term]
id: DI-06626
name: Mitochondrial complex IV deficiency, nuclear type 23
def: "A primary mitochondrial disease, a clinically heterogeneous group of disorders arising from dysfunction of the mitochondrial respiratory chain. MC4DN23 is an autosomal recessive form characterized by infantile-onset encephalopathy. Clinical features include brain atrophy, severe developmental delay, seizures, and dyskinetic movement abnormalities." []
xref: MedGen:CN323667
xref: MeSH:D017237
xref: MIM:620275 "phenotype"
[Term]
id: DI-06627
name: Oocyte/zygote/embryo maturation arrest 14
def: "An autosomal recessive female infertility disorder characterized by oocyte maturation arrest, fertilization failure, and/or early embryonic arrest." []
synonym: "Oocyte maturation defect 14" [UniProt]
synonym: "OOMD14" [UniProt]
xref: MedGen:CN323665
xref: MeSH:D007247
xref: MIM:620276 "phenotype"
[Term]
id: DI-06628
name: Immunodeficiency 109 with lymphoproliferation
def: "An autosomal recessive primary immune disorder characterized by recurrent sinopulmonary infections, susceptibility to infection with Epstein-Barr virus (EBV), persistent EBV viremia, and EBV-induced lymphoproliferation or B-cell lymphoma." []
xref: MedGen:CN323711
xref: MeSH:D007153
xref: MIM:620282 "phenotype"
[Term]
id: DI-06629
name: Amyotrophic lateral sclerosis 27, juvenile
def: "A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS27 is an autosomal dominant form manifesting as toe walking and gait abnormalities in early childhood." []
xref: MedGen:CN323710
xref: MeSH:D000690
xref: MIM:620285 "phenotype"
[Term]
id: DI-06630
name: Myopathy, sarcoplasmic body
def: "An autosomal dominant, slowly progressive muscle disorder manifesting in adulthood with proximal and axial weakness that progresses to involve distal muscles. Patients may lose ambulation after a long disease course, and some individuals develop respiratory or cardiac symptoms. Muscle pathology features include sarcoplasmic bodies in skeletal and cardiac muscles." []
synonym: "Myoglobinopathy" [UniProt]
xref: MedGen:CN323719
xref: MeSH:D009135
xref: MIM:620286 "phenotype"
[Term]
id: DI-06631
name: Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
def: "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay with intellectual disability of varying severity, speech and motor delay, and behavioral abnormalities, including autistic features. About half of patients develop seizures." []
xref: MedGen:CN323721
xref: MeSH:D065886
xref: MIM:620292 "phenotype"
[Term]
id: DI-06632
name: Congenital heart defects, multiple types, 9
def: "An autosomal recessive disorder characterized by congenital developmental abnormalities involving structures of the heart. CHTD9 features include common arterial trunk, tetralogy of Fallot, interrupted aortic arch, right aortic arch, ventricular hypoplasia, and hypoplastic left heart, as well as other vascular and valvular anomalies." []
xref: MedGen:CN323722
xref: MeSH:D006330
xref: MIM:620294 "phenotype"
[Term]
id: DI-06633
name: Autoinflammation with pulmonary and cutaneous vasculitis
def: "An autosomal dominant disorder characterized by cutaneous vasculitis and chronic pulmonary inflammation that evolves to fibrosis. AIPCV manifests soon after birth with petechial skin lesions, followed by progressive pulmonary involvement causing restrictive lung disease and respiratory insufficiency." []
xref: MedGen:CN323730
xref: MeSH:D056660
xref: MIM:620296 "phenotype"
[Term]
id: DI-06634
name: Spermatogenic failure, X-linked, 7
def: "A male infertility disorder characterized by a significant reduction in sperm count and motility, and aberrant sperm morphology with abnormalities of the head and flagella. Patient sperm show insufficient individualization, excessive residual cytoplasm, and defects in acrosome development." []
xref: MedGen:CN327027
xref: MeSH:D007248
xref: MIM:301106 "phenotype"
[Term]
id: DI-06635
name: Mitochondrial trifunctional protein deficiency 2
def: "An autosomal recessive metabolic disorder of long-chain fatty acid oxidation, biochemically characterized by loss of all enzyme activities of the mitochondrial trifunctional protein complex. The disease phenotype ranges from a fatal form characterized by early- onset cardiomyopathy, cardiac failure and early death to less severe, late-onset forms with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy as key features." []
xref: MedGen:CN323725
xref: MeSH:D008052
xref: MeSH:D017240
xref: MIM:620300 "phenotype"
[Term]
id: DI-06636
name: Pituitary hormone deficiency, combined or isolated, 8
def: "An autosomal dominant disorder characterized by short stature due to growth hormone deficiency, variable deficiencies of other pituitary hormones, and pituitary abnormalities. Many CPHD8 patients present with pituitary stalk interruption syndrome that is characterized by pituitary gland insufficiency, thin or discontinuous pituitary stalk, anterior pituitary hypoplasia, and ectopic positioning of the posterior pituitary gland." []
xref: MedGen:CN323743
xref: MeSH:D004393
xref: MIM:620303 "phenotype"
[Term]
id: DI-06637
name: Neurooculorenal syndrome
def: "An autosomal recessive syndrome characterized by variable clinical features including congenital renal anomalies, neurodevelopmental defects, intellectual impairment, cardiac defects, and ocular anomalies. Some affected individuals present in utero with renal agenesis and structural brain abnormalities incompatible with life." []
xref: MedGen:CN323744
xref: MeSH:D000013
xref: MIM:620305 "phenotype"
[Term]
id: DI-06638
name: Nystagmus 8, congenital, autosomal recessive
def: "A form of nystagmus, a condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. NYS8 patients manifest bilateral horizontal nystagmus in the absence of other neurologic signs or symptoms. Brain imaging is normal." []
xref: MedGen:C3151571
xref: MeSH:D020417
xref: MIM:257400 "phenotype"
[Term]
id: DI-06639
name: Neurodegeneration and seizures due to copper transport defect
def: "An autosomal recessive disorder of copper metabolism characterized by global developmental delay, seizures, cortical and cerebellar atrophy, and axial hypotonia. Death in infancy may occur." []
xref: MedGen:CN323733
xref: MeSH:D008664
xref: MeSH:D020739
xref: MIM:620306 "phenotype"
[Term]
id: DI-06640
name: Congenital myopathy 20
def: "An autosomal recessive neuromuscular disorder characterized by variable manifestations. Some patients have congenital limb or distal contractures manifesting soon after birth, while others develop muscle weakness with difficulty running and climbing stairs in early childhood. Additional features may include facial dysmorphism, and delayed development with intellectual disability. Skeletal muscle biopsy may show variation in fiber size with type 1 fiber predominance and atrophy, hypertrophic type 2 fibers, and abundant nemaline bodies." []
xref: MedGen:CN324005
xref: MeSH:D020914
xref: MIM:620310 "phenotype"
[Term]
id: DI-06641
name: Premature ovarian failure 21
def: "A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF21 inheritance is autosomal dominant." []
xref: MedGen:CN323742
xref: MeSH:D016649
xref: MIM:620311 "phenotype"
[Term]
id: DI-06642
name: Cortical dysplasia, complex, with other brain malformations 12
def: "An autosomal recessive disorder of aberrant neuronal migration during brain development. CDCBM12 is characterized by severe to profound neurodevelopmental delay, microcephaly, cortical visual impairment, craniofacial dysmorphism, and seizures. Brain imaging shows lissencephaly, severe hypoplasia or absence of the corpus callosum, cerebellar hypodysplasia, and dysplasia of the basal ganglia, hippocampus and midbrain." []
xref: MedGen:CN324006
xref: MeSH:D054220
xref: MIM:620316 "phenotype"
[Term]
id: DI-06643
name: Oocyte/zygote/embryo maturation arrest 17
def: "A rare cause of female primary infertility. In affected women, ovulation and fertilization proceed normally but embryos are arrested at early stages of development or cannot establish pregnancy after implantation. Inheritance is autosomal recessive." []
xref: MedGen:CN324063
xref: MeSH:D007246
xref: MIM:620319 "phenotype"
[Term]
id: DI-06644
name: Hematuria, benign familial, 2
def: "An autosomal dominant condition characterized by non-progressive isolated microscopic hematuria that does not result in renal failure. It is characterized pathologically by thinning of the glomerular basement membrane." []
xref: MedGen:CN325325
xref: MeSH:D006417
xref: MIM:620320 "phenotype"
[Term]
id: DI-06645
name: C1q deficiency 2
def: "An autosomal recessive disorder caused by impaired activation of the complement classical pathway. It generally leads to severe immune complex disease characterized by recurrent skin lesions, chronic infections, an increased risk of systemic lupus erythematosus, and glomerulonephritis." []
synonym: "Complement component C1q deficiency 2" [UniProt]
xref: MedGen:CN325326
xref: MeSH:D007105
xref: MIM:620321 "phenotype"
[Term]
id: DI-06646
name: C1q deficiency 3
def: "An autosomal recessive disorder caused by impaired activation of the complement classical pathway. It generally leads to severe immune complex disease characterized by recurrent skin lesions, chronic infections, an increased risk of systemic lupus erythematosus, and glomerulonephritis." []
synonym: "Complement component C1q deficiency 3" [UniProt]
xref: MedGen:CN325327
xref: MeSH:D007105
xref: MIM:620322 "phenotype"
[Term]
id: DI-06647
name: Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities
def: "An autosomal recessive disorder characterized by global developmental delay apparent in infancy, severely impaired intellectual development, absent speech, and aggressive behavior." []
xref: MedGen:CN323718
xref: MeSH:D065886
xref: MIM:620270 "phenotype"
[Term]
id: DI-06648
name: Leukoencephalopathy with vanishing white matter 2
def: "An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy." []
synonym: "Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure" [UniProt]
xref: MedGen:CN327004
xref: MeSH:D056784
xref: MIM:620312 "phenotype"
[Term]
id: DI-06649
name: Leukoencephalopathy with vanishing white matter 3
def: "An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy." []
synonym: "Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure" [UniProt]
xref: MedGen:CN327005
xref: MeSH:D056784
xref: MIM:620313 "phenotype"
[Term]
id: DI-06650
name: Leukoencephalopathy with vanishing white matter 4
def: "An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy." []
synonym: "Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure" [UniProt]
xref: MedGen:CN327006
xref: MeSH:D056784
xref: MIM:620314 "phenotype"
[Term]
id: DI-06651
name: Leukoencephalopathy with vanishing white matter 5
def: "An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy." []
synonym: "CLE" [UniProt]
synonym: "Cree leukoencephalopathy" [UniProt]
synonym: "Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure" [UniProt]
xref: MedGen:CN327007
xref: MeSH:D056784
xref: MIM:620315 "phenotype"
[Term]
id: DI-06652
name: Macular dystrophy, retinal, 5
def: "An autosomal recessive, late-onset form of of macular dystrophy, a group of inherited retinal disorders that cause significant visual loss, most often as a result of progressive macular atrophy. MCDR5 symptoms include reduced visual acuity, difficulty reading, photopsias in the central visual field, poor contrast vision, and metamorphopsia. Night blindness is uncommon." []
xref: MeSH:D008268
xref: MIM:613660 "phenotype"
[Term]
id: DI-06653
name: Retinitis pigmentosa 65
def: "An autosomal recessive form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP65 is an adult- onset form, with night blindness developing in the second to fourth decades of life." []
xref: MedGen:C3552852
xref: MeSH:D012174
xref: MIM:613660 "phenotype"
[Term]
id: DI-06654
name: Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities
def: "An autosomal recessive disorder apparent from early infancy and characterized by global developmental delay, delayed or absent walking, impaired intellectual development, poor or absent speech, and postnatal progressive microcephaly. Additional variable features include cortical visual impairment, seizures, hypotonia, spasticity, and sensorineural deafness. Brain anomalies including myelination defects, cortical atrophy, or thin corpus callosum are present in most patients." []
xref: MedGen:CN327015
xref: MeSH:D065886
xref: MIM:620317 "phenotype"
[Term]
id: DI-06655
name: Spastic paraplegia 70, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG70 features may also include global developmental delay with variably impaired intellectual development, speech delay, feeding difficulties, and dysmorphic facial features. SPG70 is characterized by onset of symptoms in infancy." []
xref: MedGen:CN327016
xref: MeSH:D015419
xref: MIM:620323 "phenotype"
[Term]
id: DI-06656
name: Congenital myopathy 21 with early respiratory failure
def: "An autosomal recessive muscle disorder characterized by diaphragmatic weakness, respiratory impairment, and spinal rigidity. Disease onset ranges from early childhood to adulthood and severity is variable. Death from respiratory failure may occur in severe cases. Some affected individuals may show developmental delay and hypertrophic cardiomyopathy." []
xref: MedGen:CN327014
xref: MeSH:D020914
xref: MIM:620326 "phenotype"
[Term]
id: DI-06657
name: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
def: "An autosomal recessive disorder characterized by congenital microcephaly, profound global developmental delay, exaggerated startle response, refractory myoclonic seizures, progressive widespread neurodegeneration, and premature death." []
xref: MedGen:CN327017
xref: MeSH:D065886
xref: MIM:620327 "phenotype"
[Term]
id: DI-06658
name: Diarrhea 13
def: "An autosomal recessive disorder characterized by neonatal onset of recurrent vomiting and diarrhea, leading to severe failure to thrive." []
xref: MedGen:CN327033
xref: MeSH:D003968
xref: MIM:620357 "phenotype"
[Term]
id: DI-06659
name: Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities
def: "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, hypotonia, speech delay, and impaired intellectual development. Most patients manifest neurobehavioral features including autism spectrum disorder and attention- deficit/hyperactivity disorder. Other frequent features include hypersensitivity to sensory stimuli and sleep problems." []
xref: MedGen:CN327018
xref: MeSH:D065886
xref: MIM:620330 "phenotype"
[Term]
id: DI-06660
name: Hatipoglu immunodeficiency syndrome
def: "An autosomal recessive immunologic disorder manifesting in infancy or early childhood, and characterized by failure to thrive, short stature, skin pigmentation abnormalities, pancytopenia, and susceptibility to recurrent infections." []
synonym: "IMD111" [UniProt]
synonym: "Immunodeficiency 111" [UniProt]
xref: MedGen:CN327028
xref: MeSH:D007153
xref: MIM:620331 "phenotype"
[Term]
id: DI-06661
name: Oocyte/zygote/embryo maturation arrest 18
def: "An autosomal recessive female infertility disorder. In affected women, ovulation and fertilization proceed normally but embryos are arrested at early stages of development or cannot establish pregnancy after implantation." []
xref: MedGen:CN327002
xref: MeSH:D007246
xref: MIM:620332 "phenotype"
[Term]
id: DI-06662
name: Oocyte/zygote/embryo maturation arrest 19
def: "An autosomal recessive female infertility disorder characterized by reduced fertilization rate, oocyte maturation arrest at germinal vesicle stage, and early embryonic arrest." []
xref: MedGen:CN327003
xref: MeSH:D007246
xref: MIM:620333 "phenotype"
[Term]
id: DI-06663
name: Cone-rod dystrophy 24
def: "An autosomal dominant form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors." []
xref: MedGen:CN327019
xref: MeSH:D000071700
xref: MIM:620342 "phenotype"
[Term]
id: DI-06664
name: Basal cell nevus syndrome 2
def: "A form of basal cell nevus syndrome, a disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas." []
synonym: "NBCCS2" [UniProt]
synonym: "Nevoid basal cell carcinoma syndrome 2" [UniProt]
xref: MedGen:CN327020
xref: MeSH:D001478
xref: MIM:620343 "phenotype"
[Term]
id: DI-06665
name: Prolonged electroretinal response suppression 2
def: "A form of bradyopsia, an ocular disorder characterized by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia. PERRS2 is an autosomal recessive form with onset in childhood." []
synonym: "Bradyopsia 2" [UniProt]
xref: MedGen:CN327021
xref: MeSH:D015785
xref: MIM:620344 "phenotype"
[Term]
id: DI-06666
name: Developmental and epileptic encephalopathy 31B
def: "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE31B is an autosomal recessive form with onset in the first months of life." []
xref: MedGen:CN327029
xref: MeSH:D013036
xref: MIM:620352 "phenotype"
[Term]
id: DI-06667
name: Spermatogenic failure 82
def: "An autosomal recessive male infertility disorder characterized by asthenoteratozoospermia and multiple morphologic abnormalities of the sperm flagella." []
xref: MedGen:CN327030
xref: MeSH:D007248
xref: MIM:620353 "phenotype"
[Term]
id: DI-06668
name: Spermatogenic failure 83
def: "An autosomal recessive male infertility disorder characterized by asthenoteratozoospermia. Patient sperm exhibit an asymmetric fibrous sheath of the flagella." []
xref: MedGen:CN327031
xref: MeSH:D007248
xref: MIM:620354 "phenotype"
[Term]
id: DI-06669
name: Ciliary dyskinesia, primary, 50
def: "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD50 is an autosomal recessive form characterized by chronic sinusitis and bronchitis as well as male infertility. Patient sperm have markedly reduced progressive motility, and multiple morphologic abnormalities of the flagella." []
xref: MedGen:CN327032
xref: MeSH:D002925
xref: MIM:620356 "phenotype"
[Term]
id: DI-06670
name: Intellectual developmental disorder, X-linked 111
def: "A neurodevelopmental disorder characterized by moderate to severe intellectual disability, delayed development, speech delay, and neuropsychiatric and behavioral problems such as anxiety, attention deficit-hyperactivity disorder and autism spectrum disorder." []
xref: MedGen:CN327048
xref: MeSH:D065886
xref: MIM:301107 "phenotype"
[Term]
id: DI-06671
name: Epidermolytic hyperkeratosis 2A
def: "An autosomal dominant form of epidermolytic hyperkeratosis, a skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop. EHK2 inheritance is autosomal dominant or autosomal recessive." []
xref: MedGen:CN327122
xref: MeSH:D017488
xref: MIM:620150 "phenotype"
[Term]
id: DI-06672
name: Congenital myopathy 22A, classic
def: "A form of congenital myopathy, a clinically and genetically heterogeneous group of muscle disorders characterized by hypotonia and muscle weakness apparent at birth, and specific pathological features on muscle biopsy. CMYO22A is an autosomal recessive form characterized by fetal hypokinesia, polyhydramnios, and severe neonatal hypotonia associated with respiratory insufficiency. Affected individuals who survive the neonatal period have delayed motor development, difficulty walking, proximal muscle weakness of the upper and lower limbs, facial and neck muscle weakness, easy fatigability, and mild limb contractures or foot deformities." []
xref: MedGen:CN327123
xref: MeSH:D020914
xref: MIM:620351 "phenotype"
[Term]
id: DI-06673
name: Congenital myopathy 22B, severe fetal
def: "A severe congenital myopathy, a clinically and genetically heterogeneous group of muscle disorders characterized by hypotonia and muscle weakness apparent at birth, and specific pathological features on muscle biopsy. CMYO22B is an autosomal recessive form characterized by onset in utero. Affected individuals show fetal akinesia, and develop fetal hydrops with pulmonary hypoplasia, severe joint contractures, and generalized muscle hypoplasia. Death occurs in utero or soon after birth." []
xref: MedGen:CN327124
xref: MeSH:D020914
xref: MIM:620369 "phenotype"
[Term]
id: DI-06674
name: Mitochondrial complex V deficiency, nuclear type 4A
def: "An autosomal dominant mitochondrial disorder characterized by failure to thrive, feeding difficulties, hyperlactatemia, hyperammonemia, and increased serum alanine levels. Some affected individuals show spontaneous resolution of the symptoms in early childhood and have subsequent normal growth and development, whereas others show developmental delay with impaired intellectual development and movement abnormalities, including dystonia, ataxia, or spasticity." []
synonym: "Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A" [UniProt]
xref: MedGen:CN327049
xref: MeSH:D028361
xref: MIM:620358 "phenotype"
[Term]
id: DI-06675
name: Mitochondrial complex V deficiency, nuclear type 7
def: "An autosomal recessive, severe, mitochondrial disorder apparent soon after birth. It is characterized by multisystemic features that include hypotonia, developmental delay, progressive epileptic encephalopathy, progressive cerebral atrophy, white matter abnormalities on brain imaging, and hypertrophic cardiomyopathy in some patients. Death in infancy or early childhood may occur." []
synonym: "Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7" [UniProt]
xref: MedGen:CN327046
xref: MeSH:D028361
xref: MIM:620359 "phenotype"
[Term]
id: DI-06676
name: Combined low LDL and fibrinogen
def: "An autosomal recessive condition characterized by low plasma LDL- cholesterol and fibrinogen levels, and associated with a decreased risk of coronary artery disease." []
xref: MedGen:CN327138
xref: MeSH:D008661
xref: MIM:620364 "phenotype"
[Term]
id: DI-06677
name: Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 7
def: "An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other features include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk. Phenotype, age at onset, and severity are determined by telomere length. PFBMFT7 patients manifest anemia, lymphopenia, liver involvement with portal hypertension and hepatopulmonary syndrome, premature graying of the hair, nail dystrophy, and predisposition to squamous cell cancers or myelodysplasia." []
xref: MedGen:CN327130
xref: MeSH:D000080983
xref: MeSH:D011658
xref: MIM:620365 "phenotype"
[Term]
id: DI-06678
name: Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 8
def: "An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other features include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk. Phenotype, age at onset, and severity are determined by telomere length. PFBMFT8 is characterized by the onset of progressive pulmonary fibrosis in adulthood, signs of bone marrow failure, such as thrombocytopenia, liver dysfunction, and features of dyskeratosis congenita, including premature graying of the hair, in some affected individuals." []
xref: MedGen:CN327131
xref: MeSH:D000080983
xref: MeSH:D011658
xref: MIM:620367 "phenotype"
[Term]
id: DI-06679
name: Osteopetrosis, autosomal recessive 9
def: "A form of osteopetrosis, a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB9 is characterized by increased bone density and bone fragility, as well as renal failure." []
xref: MedGen:CN327045
xref: MeSH:D010022
xref: MIM:620366 "phenotype"
[Term]
id: DI-06680
name: Cerebroretinal microangiopathy with calcifications and cysts 3
def: "An autosomal recessive disorder characterized by intrauterine growth retardation, retinal exudates, global developmental delay, neurologic regression, intracranial calcifications, and leukoencephalopathy." []
xref: MedGen:CN327132
xref: MeSH:D002114
xref: MeSH:D056784
xref: MeSH:D058456
xref: MeSH:D059345
xref: MIM:620368 "phenotype"
[Term]
id: DI-06681
name: Charcot-Marie-Tooth disease, axonal, 2GG
def: "An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2GG is an autosomal dominant form characterized by slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs and causing difficulty walking. Some individuals may also have involvement of the hands." []
synonym: "Charcot-Marie-Tooth disease, axonal, type 2GG" [UniProt]
xref: MedGen:C5561933
xref: MeSH:D002607
xref: MIM:606483 "phenotype"
[Term]
id: DI-06682
name: Intellectual developmental disorder, autosomal recessive 79
def: "An autosomal recessive neurodevelopmental disorder apparent from infancy and characterized by global developmental delay, severe intellectual disability, poor or absent speech, ataxia, and postnatal microcephaly." []
xref: MedGen:CN371899
xref: MeSH:D008607
xref: MIM:620393 "phenotype"
[Term]
id: DI-06683
name: RECON progeroid syndrome
def: "An autosomal recessive syndrome characterized by short stature, progeroid facial features, a hypoplastic nose, xeroderma, skin photosensitivity, muscle wasting with reduced subcutaneous fat, and slender elongated thumbs." []
xref: MedGen:CN327050
xref: MeSH:D019588
xref: MIM:620370 "phenotype"
[Term]
id: DI-06684
name: Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
def: "An autosomal recessive disease characterized by prenatal or neonatal onset of intracranial hemorrhage, ventriculomegaly and cerebral calcifications. Affected individuals have profound global developmental delay, intellectual disability, epilepsy, absent or severely delayed speech, and varying degrees of spasticity. Death in utero or in early childhood may occur." []
xref: MedGen:CN327133
xref: MeSH:D020300
xref: MeSH:D065886
xref: MIM:620371 "phenotype"
[Term]
id: DI-06685
name: Hypersulfaturia
def: "An autosomal recessive inborn error of sulfate homeostasis resulting in urinary sulfate wasting and low plasma sulfate. Clinical features include costochondritis, perichondritis of the costovertebral joints, and chest pain." []
xref: MedGen:CN327134
xref: MeSH:D008659
xref: MIM:620372 "phenotype"
[Term]
id: DI-06686
name: Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis
def: "A form of nephrolithiasis, a condition in which urinary supersaturation leads to calcium oxalate stone formation in the urinary system. CAON2 is an autosomal dominant form often resultings in nephrocalcinosis." []
xref: MedGen:CN327135
xref: MeSH:D053040
xref: MIM:620374 "phenotype"
[Term]
id: DI-06687
name: Muscular dystrophy, limb-girdle, autosomal recessive 28
def: "An autosomal recessive form of limb girdle muscular dystrophy, a group of genetically heterogeneous muscular disorders that share proximal muscle weakness as the major attribute. Most limb girdle muscular dystrophies present with elevated creatinine kinase and myopathic electromyographic features. Disease is usually progressive to a variable degree, ranging from minor disability to complete inability to ambulate, and can involve the large proximal muscles, as well as axial and facial muscles. Different disease forms may exhibit skeletal muscle hypertrophy, kyphoscoliosis, and contractures or involve other muscle groups and manifest with distal weakness, cardiomyopathy, dysphagia, and respiratory difficulties. LGMDR28 is characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs, and highly variable age at onset. Most patients have limited ambulation or become wheelchair-bound within a few decades, and respiratory insufficiency commonly occurs." []
xref: MedGen:CN327136
xref: MeSH:D049288
xref: MIM:620375 "phenotype"
[Term]
id: DI-06688
name: Autoinflammatory disease, systemic, with vasculitis
def: "An autosomal dominant disorder characterized by systemic autoinflammation manifesting in the first hours of life with diffuse purpuric skin lesions, fever, hepatosplenomegaly, and increased C- reactive protein. Additional clinical features include periorbital edema, conjunctivitis, urticaria, atopic dermatitis, abdominal pain, and arthralgia. Laboratory studies may show leukocytosis, thrombocytopenia, and autoantibodies." []
synonym: "LAVLI syndrome" [UniProt]
xref: MedGen:CN327139
xref: MeSH:D056660
xref: MIM:620376 "phenotype"
[Term]
id: DI-06689
name: Spastic paraplegia 89, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or weakness and stiffness may spread to other parts of the body. SPG89 affected individuals show delayed motor development, abnormal spastic gait, and hyperreflexia of the lower limbs. Some patients may have mildly impaired intellectual development or learning difficulties. SPG89 disease onset is in the first years of life." []
xref: MedGen:CN371829
xref: MeSH:D015419
xref: MIM:620379 "phenotype"
[Term]
id: DI-06690
name: Oocyte/zygote/embryo maturation arrest 20
def: "An autosomal recessive, female infertility disorder characterized by early embryonic arrest and fragmentation. Early embryo fragmentation is defined by the presence of anucleate cell fragments derived from the blastomeres. Excessive embryo fragmentation is associated with deleterious outcomes, including decreased implantation rate." []
xref: MedGen:CN327140
xref: MeSH:D007246
xref: MIM:620383 "phenotype"
[Term]
id: DI-06691
name: Auditory neuropathy, autosomal dominant 2
def: "A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. Affected individuals typically respond to sound but have difficulties in speech discrimination. AUNA2 is characterized by postlingual onset of progressive bilateral sensorineural hearing loss in the second decade, leading to profound deafness in the fifth decade. The outer hair cell function is preserved initially but declines with age." []
xref: MedGen:CN371828
xref: MeSH:D006319
xref: MIM:620384 "phenotype"
[Term]
id: DI-06692
name: Nemaline myopathy 5B, autosomal recessive, childhood-onset
def: "A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM5B is characterized by proximal muscle weakness of the lower and upper limbs, gait abnormalities, and delayed motor development in some affected individuals. Most patients remain ambulatory even into late adulthood and develop restrictive respiratory insufficiency with decreased forced vital capacity." []
xref: MedGen:CN371905
xref: MeSH:D017696
xref: MIM:620386 "phenotype"
[Term]
id: DI-06693
name: Nemaline myopathy 5C, autosomal dominant
def: "A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM5C is a relatively mild skeletal muscle disorder appearing in the first or second decades. Main clinical features include difficulty walking on the heels, waddling gait, proximal muscle weakness affecting the upper and lower limbs, and Gowers sign. Patients remain ambulatory into late adulthood." []
xref: MedGen:CN371906
xref: MeSH:D017696
xref: MIM:620389 "phenotype"
[Term]
id: DI-06694
name: Bazex-Dupre-Christol syndrome
def: "An X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face and extensor surfaces of the elbows or knees, and the development of basocellular neoplasms including basal cell nevi and basal cell carcinomas from the second decade onwards. Other reported features include associated hair shaft abnormalities (pili torti and trichorrhexis nodosa) admixed with hypotrichosis, prominent milia affecting the face, hypohidrosis, pinched nose with hypoplastic nasal alae and prominent columella, atopic diathesis with comedones, keratosis pilaris, joint hypermobility, lingua plicata and hyperpigmentation of the forehead." []
synonym: "Bazex syndrome" [UniProt]
synonym: "BZX" [UniProt]
synonym: "Follicular atrophoderma and basal cell carcinomas" [UniProt]
synonym: "Follicular atrophoderma and basal cell epitheliomata" [UniProt]
xref: MedGen:C0346104
xref: MeSH:D002280
xref: MeSH:D007039
xref: MIM:301845 "phenotype"
[Term]
id: DI-06695
name: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1
def: "An X-linked dominant disorder characterized by infantile onset of steroid-resistant nephrotic syndrome, cataracts, sensorineural deafness, and enterocolitis. Males are more severely affected than females, and death occurs in early childhood. Affected females develop early-onset hearing impairment, early-onset cataracts, but only rarely have nephrotic syndrome. They do not have enterocolitis." []
xref: MedGen:CN372217
xref: MeSH:D002386
xref: MeSH:D003638
xref: MeSH:D009404
xref: MIM:301108 "phenotype"
[Term]
id: DI-06696
name: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2
def: "An autosomal recessive disorder characterized by infantile onset of steroid-resistant nephrotic syndrome, cataracts, sensorineural deafness, and enterocolitis. It results in death in early childhood." []
xref: MedGen:CN372218
xref: MeSH:D002386
xref: MeSH:D003638
xref: MeSH:D009404
xref: MIM:620425 "phenotype"
[Term]
id: DI-06697
name: Glycine encephalopathy 2
def: "A form of glycine encephalopathy, a metabolic disorder characterized by a high concentration of glycine in the body fluids. Affected individuals typically have severe neurological symptoms, including seizure, lethargy, and muscular hypotonia soon after birth. Most of them die within the neonatal period. Atypical cases have later disease onset and less severely affected psychomotor development." []
xref: MedGen:CN371930
xref: MeSH:D020158
xref: MIM:620398 "phenotype"
[Term]
id: DI-06698
name: Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 9
def: "An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other features include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk. Phenotype, age at onset, and severity are determined by telomere length. PFBMFT9 is characterized by the development of pulmonary fibrosis or hematologic abnormalities in adulthood. Liver disease may also be present. There is incomplete penetrance and evidence of genetic anticipation." []
synonym: "Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9" [UniProt]
xref: MedGen:CN371932
xref: MeSH:D000080983
xref: MeSH:D011658
xref: MIM:620400 "phenotype"
[Term]
id: DI-06699
name: Spermatogenic failure 84
def: "An autosomal recessive male infertility disorder characterized by multiple morphologic abnormalities of the sperm flagella, resulting in severely reduced motility. Some patients also have a reduced sperm count." []
xref: MedGen:CN371965
xref: MeSH:D007248
xref: MIM:620409 "phenotype"
[Term]
id: DI-06700
name: Palmoplantar keratoderma, epidermolytic, 2
def: "A form of epidermolytic palmoplantar keratoderma, a dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present knuckle pads, thick pads of skin appearing over the proximal phalangeal joints. EPPK2 is an autosomal dominant form in which hyperkeratosis is restricted to palms and soles and is apparent from birth or childhood." []
synonym: "Greither syndrome" [UniProt]
synonym: "Keratosis of Greither" [UniProt]
xref: MedGen:CN372185
xref: MeSH:D053546
xref: MIM:620411 "phenotype"
[Term]
id: DI-06701
name: Ciliary dyskinesia, primary, 51
def: "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD51 is an autosomal recessive form characterized by male infertility due to multiple morphologic abnormalities of the sperm flagella, resulting in severely reduced progressive motility. Affected individuals have recurrent upper and lower respiratory infections, and some exhibit dextrocardia and/or situs inversus." []
xref: MedGen:CN372242
xref: MeSH:D002925
xref: MIM:620438 "phenotype"
[Term]
id: DI-06702
name: Spastic paraplegia 90A, autosomal dominant
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or weakness and stiffness may spread to other parts of the body. SPG90A affected individuals have motor impairment and progressive lower extremity spasticity as well as neurologic findings, cognitive impairment, and hearing loss." []
xref: MedGen:CN372196
xref: MeSH:D015419
xref: MIM:620416 "phenotype"
[Term]
id: DI-06703
name: Spastic paraplegia 90B, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or weakness and stiffness may spread to other parts of the body. SPG90B is an autosomal recessive form characterized by motor impairment and progressive lower extremity spasticity as well as neurologic findings, cognitive impairment, and hearing loss." []
xref: MedGen:CN372197
xref: MeSH:D015419
xref: MIM:620417 "phenotype"
[Term]
id: DI-06704
name: Retinitis pigmentosa 97
def: "An autosomal dominant form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP97 is characterized by onset of night blindness and visual field defects in the first decade of life." []
xref: MedGen:CN372204
xref: MeSH:D012174
xref: MIM:620422 "phenotype"
[Term]
id: DI-06705
name: Multiple mitochondrial dysfunctions syndrome 7
def: "An autosomal recessive disorder biochemically characterized by glycine accumulation in body fluids, including the cerebrospinal fluid, with an elevated cerebrospinal fluid/plasma glycine ratio. The broad clinical spectrum ranges from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, limited verbal communication, behavioral problems, seizures and variable movement problems. Death in infancy or early childhood may occur." []
xref: MedGen:CN372213
xref: MeSH:D028361
xref: MIM:620423 "phenotype"
[Term]
id: DI-06706
name: Dystonia 37, early-onset, with striatal lesions
def: "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT37 is an autosomal recessive form characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life. Affected individuals show delayed motor development and may have impaired intellectual development." []
xref: MedGen:CN372239
xref: MeSH:D004421
xref: MIM:620427 "phenotype"
[Term]
id: DI-06707
name: Cardiomyopathy, dilated, 1PP
def: "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1PP inheritance is autosomal dominant." []
xref: MeSH:D002311
xref: MIM:617047 "phenotype"
[Term]
id: DI-06708
name: Arrhythmogenic right ventricular dysplasia, familial, 15
def: "A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. ARVD15 inheritance is autosomal dominant." []
synonym: "Arrhythmogenic right ventricular cardiomyopathy, familial, 15" [UniProt]
xref: MeSH:D019571
xref: MIM:617047 "phenotype"
[Term]
id: DI-06709
name: Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
def: "An autosomal recessive disorder apparent from infancy or early childhood, and characterized by global developmental delay, intellectual disability, motor and speech impairment, and brain abnormalities. Specifically, brain imaging shows progressive cortical atrophy, cortical gyral simplification, and delayed myelination affecting cerebrum and cerebellum. Ocular defects can include optic atrophy, nystagmus, strabismus, and retinal dystrophy. Disease severity is variable and some patients may die in childhood." []
xref: MedGen:CN372247
xref: MeSH:D065886
xref: MIM:620428 "phenotype"
[Term]
id: DI-06710
name: Autoimmune disease, multisystem, infantile-onset, 3
def: "An autosomal recessive disorder characterized by autoimmune manifestations apparent in the first months or years of life. Clinical features may include hypothyroidism, type 1 diabetes mellitus, systemic inflammatory manifestations such as fever and hepatomegaly, and autoimmune cytopenias." []
synonym: "CBLB deficiency" [UniProt]
xref: MedGen:CN372248
xref: MeSH:D001327
xref: MIM:620430 "phenotype"
[Term]
id: DI-06711
name: Lipomatosis, multiple symmetric, with or without peripheral neuropathy
def: "An autosomal recessive disorder characterized by the growth of unencapsulated, lipomatous masses affecting the upper body, especially the cervical and thoracic regions. Lipomatosis can be disfiguring, and lipoma growth around the neck may cause difficulty swallowing or breathing. The age at onset ranges from childhood to young adulthood. Some patients develop distal muscle weakness and atrophy due to axonal peripheral neuropathy." []
synonym: "Launois-Bensaude lipomatosis" [UniProt]
synonym: "Lipodystrophy, cephalothoracic" [UniProt]
synonym: "Lipomatosis, familial benign cervical" [UniProt]
synonym: "Madelung Disease" [UniProt]
xref: MedGen:C0023804
xref: MeSH:D008069
xref: MIM:151800 "phenotype"
[Term]
id: DI-06712
name: Autoinflammatory disease, multisystem, with immune dysregulation, X-linked
def: "An X-linked recessive disorder apparent in infancy or early childhood, and characterized by immune dysregulation, variable cytopenias, and systemic or organ-specific autoinflammatory manifestations. Clinical features include systemic lupus erythematosus, panniculitis, inflammatory bowel disease, pulmonary disease, or arthritis associated with recurrent fever, leukocytosis, lymphoproliferation, and hepatosplenomegaly in the absence of an infectious agent. Death in childhood has been reported." []
synonym: "DOCK11 deficiency" [UniProt]
xref: MedGen:CN372269
xref: MeSH:D001327
xref: MIM:301109 "phenotype"
[Term]
id: DI-06713
name: Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature
def: "An X-linked, atypical form of hemolytic uremic syndrome, characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end- stage renal disease. AHUS8 patients have short stature with short limbs, in addition to acute renal dysfunction with proteinuria, thrombotic microangiopathy, anemia, thrombocytopenia, increased serum lactate dehydrogenase, and schistocytes on peripheral blood smear. More variable features include immunodeficiency with recurrent infections, developmental delay, and dysmorphic features. The age at onset of renal symptoms is variable, ranging from infancy to the early twenties. Female carriers may be mildly affected." []
xref: MedGen:CN372341
xref: MeSH:D065766
xref: MIM:301110 "phenotype"
[Term]
id: DI-06714
name: Intellectual developmental disorder, X-linked 112
def: "A neurodevelopmental disorder characterized by developmental delay, impaired intellectual development, language and motor delay, autism or autistic traits, and variable dysmorphic features." []
xref: MedGen:CN372342
xref: MeSH:D065886
xref: MIM:301111 "phenotype"
[Term]
id: DI-06715
name: Intellectual developmental disorder, autosomal dominant 72
def: "An autosomal dominant disorder characterized by mild developmental delay and intellectual disability, predominant speech delay, autistic or attention deficit-hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight, and dysmorphic facial features." []
xref: MedGen:CN372259
xref: MeSH:D065886
xref: MIM:620439 "phenotype"
[Term]
id: DI-06716
name: Intellectual developmental disorder, autosomal dominant 73
def: "An autosomal dominant disorder characterized by intellectual disability ranging from mild to severe, developmental delay, speech delay, behavioral abnormalities, and non-specific dysmorphic facial features." []
synonym: "T4ND" [UniProt]
synonym: "TAF4-related NDD" [UniProt]
synonym: "TAF4-related neurodevelopmental disorder" [UniProt]
xref: MedGen:CN372452
xref: MeSH:D065886
xref: MIM:620450 "phenotype"
[Term]
id: DI-06717
name: Breast-ovarian cancer, familial, 5
def: "A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate." []
xref: MedGen:CN372367
xref: MeSH:D001943
xref: MeSH:D010051
xref: MIM:620442 "phenotype"
[Term]
id: DI-06718
name: Disabling pansclerotic morphea of childhood
def: "An autosomal dominant, severe systemic inflammatory disorder that is part of the juvenile localized scleroderma spectrum. DPMC is characterized by poor wound healing with rapidly progressive deep fibrosis involving the mucous membranes, dermis, subcutaneous fat, fascia, muscles, and bone, leading to contractures, musculoskeletal atrophy, and articular ankylosis. Systemic manifestations include cytopenias and hypogammaglobulinemia, but scleroderma-associated autoantibodies are usually not present. The disorder is associated with high morbidity and mortality due to squamous-cell carcinoma, restrictive pulmonary disease, sepsis, and gangrene." []
synonym: "Scleroderma, juvenile localized" [UniProt]
xref: MedGen:CN372343
xref: MeSH:D012594
xref: MIM:620443 "phenotype"
[Term]
id: DI-06719
name: Prostate cancer, hereditary, 9
def: "A condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma." []
xref: MedGen:C1970250
xref: MeSH:D011471
xref: MIM:610997 "phenotype"
[Term]
id: DI-06720
name: Craniofacial microsomia 2
def: "A form of craniofacial microsomia, a disorder characterized by a spectrum of craniofacial malformations ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or facial nerve. Most CFM2 patients exhibit isolated unilateral or bilateral grade II/III microtia, with or without atresia, although some patients show only minor external ear defects. Mandibular hypoplasia, micrognathia, and dental anomalies have also been observed. CFM2 inheritance can be autosomal dominant or autosomal recessive." []
xref: MedGen:CN372345
xref: MeSH:D006053
xref: MIM:620444 "phenotype"
[Term]
id: DI-06721
name: Neurodevelopmental disorder with microcephaly and movement abnormalities
def: "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development with language impairment ranging from delayed speech to non-verbal, and delayed walking with an abnormal gait. Affected individuals may show hypotonia or hypertonia with spasticity, ataxia, and choreoathetoid movements. Most patients have microcephaly, non-specific dysmorphic features and short stature. Additional variable features include ocular defects, seizures, brain malformations, and skeletal defects." []
xref: MedGen:CN372368
xref: MeSH:D065886
xref: MIM:620445 "phenotype"
[Term]
id: DI-06722
name: Megalencephalic leukoencephalopathy with subcortical cysts 3
def: "An autosomal dominant disorder characterized by increased head circumference apparent in infancy, followed by progressive motor and cognitive decline in early childhood. Affected individuals either do not achieve walking or lose independent ambulation in the first or second decades. Cognitive impairment is variable and accompanied by poor speech and dysarthria. Most patients have early-onset seizures, which may be mild or refractory. Brain imaging shows unremitting megalencephalic leukoencephalopathy with subcortical cysts and swelling of the cerebral white matter." []
xref: MedGen:CN372365
xref: MeSH:D056784
xref: MIM:620447 "phenotype"
[Term]
id: DI-06723
name: Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting
def: "An autosomal recessive disorder characterized by macrocephaly apparent in infancy, developmental delay, delayed walking, variable cognitive decline, behavioral abnormalities, and early-onset seizures. Brain imaging shows swelling of the cerebral white matter and subcortical cysts in the anterior temporal region. The severity of neurologic dysfunction and brain abnormalities tends to improve with time, indicating a remitting disease course." []
xref: MedGen:CN372366
xref: MeSH:D056784
xref: MIM:620448 "phenotype"
[Term]
id: DI-06724
name: Immunodeficiency 112
def: "An autosomal recessive, primary immunologic disorder characterized by variable abnormalities affecting lymphoid immunity, including hypogammaglobulinemia, lymphopenia or paradoxical lymphocytosis, and recurrent bacterial, viral, and fungal infections." []
xref: MedGen:CN372451
xref: MeSH:D007153
xref: MIM:620449 "phenotype"
[Term]
id: DI-06725
name: Combined oxidative phosphorylation deficiency 58
def: "An autosomal recessive mitochondrial disease manifesting in the first 5 years of life and characterized by a wide range of clinical presentations. Clinical features include neonatal lactic acidosis, epileptic encephalopathy, developmental delay and impaired intellectual development with non-specific brain abnormalities, or mitochondrial myopathy with a treatable neuromuscular transmission defect." []
xref: MedGen:CN372447
xref: MeSH:D028361
xref: MIM:620451 "phenotype"
[Term]
id: DI-06726
name: Dystonia 22, juvenile-onset
def: "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT22JO is an autosomal recessive form characterized by progressive, generalized dystonia associated with intellectual disability, cognitive decline, and cerebellar atrophy." []
xref: MedGen:CN372450
xref: MeSH:D004421
xref: MIM:620453 "phenotype"
[Term]
id: DI-06727
name: Dystonia 22, adult-onset
def: "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT22AO is an autosomal recessive form characterized by focal dystonia or tremor and mild cognitive impairment." []
xref: MedGen:CN372449
xref: MeSH:D004421
xref: MIM:620456 "phenotype"
[Term]
id: DI-06728
name: Congenital disorder of glycosylation 2AA
def: "A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2AA is an autosomal recessive, early fatal form characterized by severe liver disease, skeletal abnormalities, and protein glycosylation defects." []
synonym: "Congenital disorder of glycosylation, type IIaa" [UniProt]
xref: MedGen:CN372448
xref: MeSH:D018981
xref: MIM:620454 "phenotype"
[Term]
id: DI-06729
name: Auriculocondylar syndrome 4
def: "An autosomal dominant form of auriculocondylar syndrome, a craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects." []
xref: MedGen:CN372444
xref: MeSH:D004427
xref: MeSH:D018640
xref: MIM:620457 "phenotype"
[Term]
id: DI-06730
name: Auriculocondylar syndrome 2B
def: "An autosomal recessive form of auriculocondylar syndrome, a craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects." []
xref: MedGen:CN372443
xref: MeSH:D004427
xref: MeSH:D018640
xref: MIM:620458 "phenotype"
[Term]
id: DI-06731
name: Birt-Hogg-Dube syndrome 2
def: "A form of Birt-Hogg-Dube syndrome, a rare genodermatosis usually manifesting in adulthood and characterized by multiple fibrofolliculomas, trichodiscomas, and acrochordons. Patients with this syndrome have an increased susceptibility to develop renal cell carcinoma, lung cysts, and spontaneous pneumothorax. BHD2 inheritance is autosomal dominant." []
xref: MedGen:CN372445
xref: MeSH:D058249
xref: MIM:620459 "phenotype"
[Term]
id: DI-06732
name: Myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominant
def: "An autosomal dominant, slowly progressive myopathy characterized by skeletal muscle weakness variably affecting the distal or proximal lower limbs. Some patients may also have upper limb involvement or neck muscle weakness. Skeletal muscle biopsy shows distinctive myopathic features including rimmed ubiquitin-positive autophagic vacuolation and abnormal subsarcolemmal protein aggregation." []
synonym: "Vacuolar Neuromyopathy" [UniProt]
xref: MedGen:C1866139
xref: MeSH:D009136
xref: MIM:601846 "phenotype"
[Term]
id: DI-06733
name: Amyotrophic lateral sclerosis 28
def: "A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS28 is an autosomal dominant form characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness. Facial involvement is rare, but some patients may have respiratory insufficiency." []
xref: MedGen:CN372468
xref: MeSH:D000690
xref: MIM:620452 "phenotype"
[Term]
id: DI-06734
name: Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
def: "A disorder characterized by global developmental delay, intellectual disability, poor or absent speech, hypotonia, epilepsy, and structural brain anomalies. Inheritance is autosomal dominant or autosomal recessive." []
xref: MedGen:CN372453
xref: MeSH:D065886
xref: MIM:620455 "phenotype"
[Term]
id: DI-06735
name: Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
def: "An autosomal dominant disorder characterized by developmental delay, intellectual disability, speech delay, hypotonia, behavioral abnormalities, and non-specific dysmorphic facial features. Some patients have variable skeletal and cardiac anomalies." []
xref: MedGen:CN372727
xref: MeSH:D065886
xref: MIM:620489 "phenotype"
[Term]
id: DI-06736
name: Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
def: "A disorder characterized by global developmental delay, speech delay, variably impaired intellectual development, behavioral abnormalities, and dysmorphic facial features. Additional features include early feeding difficulties, failure to thrive, short stature, mild visual impairment, hypotonia, seizures, and distal skeletal defects of the hands and feet." []
xref: MedGen:CN372729
xref: MeSH:D065886
xref: MIM:620494 "phenotype"
[Term]
id: DI-06737
name: Oculopharyngeal muscular dystrophy 2
def: "An autosomal dominant, early-onset myopathy characterized by progressive muscle weakness, ptosis, ophthalmoplegia, dysphagia, and variable degrees of respiratory insufficiency." []
xref: MedGen:CN372469
xref: MeSH:D039141
xref: MIM:620460 "phenotype"
[Term]
id: DI-06738
name: Woolly hair-skin fragility syndrome
def: "An autosomal recessive genodermatosis characterized by woolly hair texture with slow hair growth, and skin fragility present at birth or appearing in the neonatal period. Skin fragility then resolves or only persists as minor skin peeling, predominantly affecting the palms and soles." []
xref: MedGen:C1843292
xref: MeSH:D006201
xref: MeSH:D012873
xref: MIM:620415 "phenotype"
[Term]
id: DI-06739
name: Encephalitis, acute, infection-induced, 12
def: "An autosomal recessive disorder apparent in infancy or early childhood, and characterized by acute encephalopathy triggered by viral infections and febrile illness. Neurologic features of the acute episodes include seizures, hemiplegia, decreased consciousness, hypotonia, abnormal posturing, feeding problems, and respiratory insufficiency. Disease severity is variable, ranging from death to normal neurologic outcomes." []
synonym: "ANE2" [UniProt]
synonym: "Encephalopathy, acute necrotizing 2" [UniProt]
synonym: "Encephalopathy, acute, infection-induced, 12" [UniProt]
xref: MedGen:CN372695
xref: MeSH:D018792
xref: MIM:620461 "phenotype"
[Term]
id: DI-06740
name: Cardiomyopathy, dilated, 2I
def: "A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2I is an autosomal recessive, severe form characterized by onset in infancy or childhood." []
xref: MedGen:CN372470
xref: MeSH:D002311
xref: MIM:620462 "phenotype"
[Term]
id: DI-06741
name: Epilepsy, early-onset, 3, with or without developmental delay
def: "An autosomal dominant neurologic disorder characterized by various types of seizures with onset in the first months or years of life. Many patients present with febrile seizures and later develop afebrile seizures. Some affected individuals have global developmental delay or regression, impaired intellectual development, poor or absent speech, and motor delay. Additional variable features include hypotonia, gait ataxia, behavioral abnormalities, and anomalies on brain imaging." []
xref: MedGen:CN372699
xref: MeSH:D004830
xref: MIM:620465 "phenotype"
[Term]
id: DI-06742
name: Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay
def: "An autosomal recessive form of congenital cranial dysinnervation disorder. This term defines a heterogeneous group of neurodevelopmental disorders caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. CCDDRD is characterized by developmental delay, corneal opacity, absent corneal reflex, expressionless face with asymmetry, sensorineural hearing loss, trigeminal nerve hypoplasia, and bilateral agenesis or severe hypoplasia of the VIII nerve with marked atresia of the internal auditory canals and cochlear labyrinth malformation. Additional features include hypotonia, impaired intellectual development, and behavioral abnormalities." []
xref: MedGen:CN372703
xref: MeSH:D000093922
xref: MIM:620469 "phenotype"
[Term]
id: DI-06743
name: Congenital smooth muscle hamartoma, with or without hemihypertrophy
def: "A benign skin lesion that usually presents as an indurated, slightly pigmented or flesh-colored plaque with perifollicular papules or coarse hair. Histopathologically, there is excessive proliferation of ectopic smooth muscle within the dermis. Hair follicles are normal in number and hyperkeratosis, acanthosis and hyperpigmentation of the basal cell layer can sometimes be seen. Rarely, CSMH is associated with hemihypertrophy." []
xref: MedGen:CN372696
xref: MeSH:D006222
xref: MIM:620470 "phenotype"
[Term]
id: DI-06744
name: Thrombocytopenia 8, with dysmorphic features and developmental delay
def: "A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC8 is an autosomal dominant form characterized by early- childhood onset of thrombocytopenia with platelet anisotropy. Affected individuals also have dysmorphic facial features and variable developmental delay with speech delay and mildly impaired intellectual development." []
xref: MedGen:CN372714
xref: MeSH:D013921
xref: MIM:620475 "phenotype"
[Term]
id: DI-06745
name: Thrombocytopenia 9
def: "A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC9 is an autosomal dominant form characterized by low platelet counts in the absence of significant bleeding tendency. Some individuals may have mild mucocutaneous bleeding, whereas others may be asymptomatic." []
synonym: "Thrombocytopenia, autosomal dominant, 9" [UniProt]
xref: MedGen:CN372715
xref: MeSH:D013921
xref: MIM:620478 "phenotype"
[Term]
id: DI-06746
name: Amegakaryocytic thrombocytopenia, congenital, 2
def: "A form of congenital amegakaryocytic thrombocytopenia, a hematologic disorder characterized by severe reduction of megakaryocytes and platelets at birth, and evolving into generalized bone marrow aplasia during childhood. CAMT2 is an autosomal recessive form. Most patients present with thrombocytopenia that progresses to pancytopenia." []
xref: MedGen:CN372721
xref: MeSH:D000080984
xref: MeSH:D013921
xref: MIM:620481 "phenotype"
[Term]
id: DI-06747
name: Becker nevus syndrome
def: "A syndrome characterized by the association of Becker nevi with musculoskeletal abnormalities, unilateral breast hypoplasia, intellectual disability, developmental delay, and cardiomyopathy. Becker nevus is a cutaneous hamartoma that appears in childhood as a unilateral tan patch and increases in thickness, pigmentation, and hair growth during adolescence. Histologically, epidermal acanthosis is accompanied by irregularly dispersed ectopic smooth muscle bundles and increased terminal hair follicles. Most cases are sporadic." []
synonym: "Becker nevus, isolated" [UniProt]
synonym: "Becker nevus, syndromic or isolated, somatic mosaic" [UniProt]
xref: MedGen:C1858042
xref: MeSH:D009506
xref: MeSH:D012878
xref: MIM:604919 "phenotype"
[Term]
id: DI-06748
name: Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development
def: "An autosomal recessive, early-onset form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK25 is characterized by onset of parkinsonism in late childhood or adolescence, developmental delay and intellectual disability. Cognitive impairment is mild to moderate and non- progressive." []
xref: MedGen:CN372710
xref: MeSH:D020734
xref: MIM:620482 "phenotype"
[Term]
id: DI-06749
name: Variegate porphyria, childhood-onset
def: "An autosomal recessive form of variegate porphyria, a disorder of heme biosynthesis that results from diminished activity of protoporphyrinogen oxidase. VPCO is characterized by severe protoporphyrinogen oxidase deficiency, onset of photosensitization by porphyrins in early childhood, skin scarring and hyperpigmentation, and skeletal abnormalities of the hand. Additional variable features are short stature, impaired intellectual development, and seizures. VPCO patients rarely experience acute neuropsychiatric or abdominal attacks." []
synonym: "Variegate porphyria, homozygous variant" [UniProt]
xref: MedGen:C3149848
xref: MedGen:CN372717
xref: MeSH:D046350
xref: MIM:620483 "phenotype"
[Term]
id: DI-06750
name: Thrombocytopenia 10
def: "A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC10 is an autosomal recessive form characterized by decreased numbers of platelets apparent from birth or early childhood." []
synonym: "Thrombocytopenia, autosomal recessive, 10" [UniProt]
xref: MedGen:CN372722
xref: MeSH:D013921
xref: MIM:620484 "phenotype"
[Term]
id: DI-06751
name: Bleeding disorder, platelet-type, 25
def: "An autosomal dominant disorder characterized by increased bleeding tendency due to decreased or dysfunctional platelets. Platelet morphologic and functional defects are variable. Some individuals have normal numbers of enlarged platelets." []
xref: MedGen:CN372723
xref: MeSH:D001791
xref: MeSH:D006470
xref: MIM:620486 "phenotype"
[Term]
id: DI-06752
name: Spermatogenic failure 85
def: "An autosomal recessive male infertility disorder characterized by globozoospermia and reduced progressive sperm motility." []
xref: MedGen:CN372716
xref: MeSH:D007248
xref: MIM:620490 "phenotype"
[Term]
id: DI-06753
name: Chronic recurrent multifocal osteomyelitis 3
def: "An autosomal dominant autoinflammatory bone disease characterized by early-childhood onset of bone pain and arthritis caused by sterile osteomyelitis." []
synonym: "CMO" [UniProt]
synonym: "Osteomyelitis, chronic multifocal" [UniProt]
xref: MedGen:C0410422
xref: MeSH:D056660
xref: MIM:259680 "phenotype"
[Term]
id: DI-06754
name: Myopathy, distal, 3
def: "An autosomal dominant skeletal muscle disorder characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties. Proximal muscle involvement may occur later in the disease, but patients typically remain ambulatory. Muscle biopsy shows myopathic changes with rimmed vacuoles." []
synonym: "Finnish upper limb onset distal myopathy" [UniProt]
xref: MedGen:C1864706
xref: MeSH:D049310
xref: MIM:610099 "phenotype"
[Term]
id: DI-06755
name: Spermatogenic failure 86
def: "An autosomal recessive male infertility disorder characterized by acrosomal defects of the spermatozoa, resulting in oocyte activation deficiency and fertilization failure." []
xref: MedGen:CN372737
xref: MeSH:D007248
xref: MIM:620499 "phenotype"
[Term]
id: DI-06756
name: Spermatogenic failure 87
def: "An autosomal recessive male infertility disorder characterized by inability of mutant sperm to penetrate the zona pellucida, resulting in fertilization failure." []
xref: MedGen:CN372738
xref: MeSH:D007248
xref: MIM:620500 "phenotype"
[Term]
id: DI-06757
name: Ziegler-Huang syndrome
def: "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. ZHS is an autosomal recessive form characterized by growth retardation, testicular hypoplasia, and bone marrow failure with thrombocytopenia and macrocytic anemia appearing in childhood." []
synonym: "BMFS8" [UniProt]
synonym: "Bone marrow failure syndrome 8" [UniProt]
xref: MedGen:CN372739
xref: MeSH:D000080983
xref: MIM:620501 "phenotype"
[Term]
id: DI-06758
name: Neurodevelopmental disorder with language delay and variable cognitive abnormalities
def: "An autosomal dominant disorder characterized by language delay ranging from mild to severe, varying degrees of intellectual disability, and learning difficulties. Additional features include early motor delay, muscular hypotonia, behavioral abnormalities, sleep disorders, and seizures." []
xref: MedGen:CN372879
xref: MeSH:D065886
xref: MIM:620502 "phenotype"
[Term]
id: DI-06759
name: Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
def: "An autosomal recessive disorder characterized by delayed motor development and developmental regression after the first year of life, followed by progressive spasticity with gait alterations, paraparesis, and oromotor dysfunction. Most individuals have cerebral, cerebellar, or basal ganglia volume loss." []
xref: MedGen:CN375537
xref: MeSH:D065886
xref: MIM:620515 "phenotype"
[Term]
id: DI-06760
name: Developmental and epileptic encephalopathy 111
def: "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE111 is an autosomal recessive form characterized by the onset of seizures in the first days, months, or years of life. Brain imaging shows frontal, parietal, and perisylvian polymicrogyria, dysmorphic basal ganglia and corpus callosum, and hypoplastic pons. Death in early childhood may occur." []
xref: MedGen:CN375466
xref: MeSH:D013036
xref: MIM:620504 "phenotype"
[Term]
id: DI-06761
name: Ichthyosis with erythrokeratoderma
def: "An autosomal dominant genodermatosis characterized by early-onset ichthyosiform erythroderma with excessive skin scaling and peeling, and erythematous hyperkeratotic plaques. Lesions are present at birth or appear soon after." []
xref: MedGen:CN372962
xref: MeSH:D007057
xref: MIM:620507 "phenotype"
[Term]
id: DI-06762
name: Xerosis and growth failure with immune and pulmonary dysfunction syndrome
def: "An autosomal recessive disorder characterized by premature birth, severe intrauterine growth deficiency, congenital ichthyosis-like features such as collodion membrane, severe skin peeling and xerosis, and death before the first year of life. Patients also exhibit bronchopulmonary disease, thrombocytopenia, and neutropenia. Additional variable features include cardiac anomalies, seizures, encephalopathy, cholestasis, and cataract." []
xref: MedGen:CN374328
xref: MeSH:D000015
xref: MeSH:D007057
xref: MIM:620510 "phenotype"
[Term]
id: DI-06763
name: Fliedner-Zweier syndrome
def: "An autosomal dominant neurodevelopmental disorder characterized by variable features including mild intellectual disability, seizures, behavioral abnormalities, and various skeletal and structural anomalies." []
xref: MedGen:CN375328
xref: MeSH:D065886
xref: MIM:620511 "phenotype"
[Term]
id: DI-06764
name: Immune dysregulation, autoimmunity, and autoinflammation
def: "An autosomal dominant disorder characterized by anemia and thrombocytopenia associated with circulating autoantibodies, positive Coombs test, immune dysregulation, and increased levels of proinflammatory cytokines." []
xref: MedGen:CN375536
xref: MeSH:D007154
xref: MIM:620514 "phenotype"
[Term]
id: DI-06765
name: Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities
def: "An autosomal recessive disorder characterized by life-threatening dilated cardiomyopathy in early childhood, with or without features of inflammation on cardiac histology. There is also a variably expressed ectodermal phenotype, including wooly or wiry hair, wedged teeth, xerotic skin, and dystrophic nails. Cleft lip and palate and corneal abnormalities have also been observed." []
xref: MedGen:CN375523
xref: MeSH:D004476
xref: MeSH:D009202
xref: MIM:620519 "phenotype"
[Term]
id: DI-06766
name: Neuronopathy, distal hereditary motor, autosomal dominant 11
def: "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. HMND11 is an autosomal dominant form with incomplete penetrance, characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties. Some affected individuals may have distal upper limb and hand involvement or mild distal sensory abnormalities, but motor symptoms dominate the clinical picture." []
xref: MedGen:CN375538
xref: MeSH:D009134
xref: MIM:620528 "phenotype"
[Term]
id: DI-06767
name: Taurodontism, microdontia, and dens invaginatus
def: "An X-linked recessive disorder characterized by the triad of taurodontism, microdontia, and dens invaginatus. Taurodontism is a rare developmental dental condition that largely affects the molar teeth and may be associated with hypodontia. In taurodontism, the crown of the molar tooth and pulp chamber are disproportionately longer than the roots. Microdontia, a mild form of hypodontia, is defined as smaller than normal teeth with shortened crowns (vertically or mesio-distally) and loss of contact areas between the teeth. Dens invaginatus or dens invagination is a tooth developmental anomaly that results from either the dental papilla folding into the developing tooth or the entire enamel organ folding into the dental papilla. In both instances, this leads to the formation of a tooth within a tooth." []
xref: MedGen:C1839235
xref: MeSH:D014071
xref: MIM:313490 "phenotype"
[Term]
id: DI-06768
name: Spastic paraplegia 72B, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG72B is a pure form of spastic paraplegia with onset of difficulty walking and stiff legs associated with hyperreflexia and extensor plantar responses in early childhood. Cognition, speech, and ocular function are normal." []
xref: MedGen:CN375817
xref: MeSH:D015419
xref: MIM:620606 "phenotype"
[Term]
id: DI-06769
name: Neuronopathy, distal hereditary motor, autosomal recessive 9
def: "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. HMNR9 is a slowly progressive form characterized by juvenile onset of distal muscle weakness and atrophy particularly affecting the lower limbs, although most patients also have upper limb involvement. Additional features include pes cavus, foot drop, and inability to walk on the heels or tiptoes. Some patients may have mild sensory abnormalities or pyramidal signs." []
synonym: "Neuropathy, distal hereditary motor, autosomal recessive 9" [UniProt]
xref: MedGen:CN375610
xref: MeSH:D009134
xref: MIM:620402 "phenotype"
[Term]
id: DI-06770
name: Spastic paraplegia 18A, autosomal dominant
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG18A is a pure form. Age at onset of symptoms varies considerably from childhood to adulthood." []
xref: MedGen:CN375606
xref: MeSH:D015419
xref: MIM:620512 "phenotype"
[Term]
id: DI-06771
name: Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
def: "An immunologic disorder characterized by severe allergic disease with onset in infancy. Common features are treatment-resistant atopic dermatitis, food allergies, asthma, eosinophilic gastrointestinal disease, and severe episodes of anaphylaxis. Half of the patients present with recurrent skin, respiratory, and viral infections. Clinical laboratory testing is notable for eosinophilia and markedly elevated serum IgE levels." []
xref: MedGen:CN375558
xref: MeSH:D007589
xref: MIM:620532 "phenotype"
[Term]
id: DI-06772
name: Neutropenia, severe congenital, 10, autosomal recessive
def: "A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l, and early onset of severe bacterial infections. SCN10 is characterized by infantile onset of neutropenia. Anemia and thrombocytopenia may be transiently present." []
xref: MedGen:CN375555
xref: MeSH:D009503
xref: MIM:620534 "phenotype"
[Term]
id: DI-06773
name: Developmental delay, dysmorphic facies, and brain anomalies
def: "An autosomal dominant disorder characterized by global developmental delay with intellectual disability and speech delay, epilepsy, hypotonia, short stature, microcephaly, intermittent exotropia, and non-specific facial dysmorphism. Brain imaging shows a thin corpus callosum and/or delayed myelination." []
xref: MedGen:CN375600
xref: MeSH:D065886
xref: MIM:620535 "phenotype"
[Term]
id: DI-06774
name: Alport syndrome 3B, autosomal recessive
def: "A form of Alport syndrome, a syndrome characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness." []
xref: MedGen:CN375559
xref: MeSH:D009394
xref: MIM:620536 "phenotype"
[Term]
id: DI-06775
name: Developmental and epileptic encephalopathy 112
def: "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE112 is an autosomal dominant form characterized by onset in infancy, and a wide range of seizure types including focal and generalized seizures. Cognitive outcomes range from normal intellect to profound intellectual development impairment." []
xref: MedGen:CN375607
xref: MeSH:D013036
xref: MIM:620537 "phenotype"
[Term]
id: DI-06776
name: Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG91 is an autosomal dominant form characterized by gait abnormalities, sometimes associated with cerebellar ataxia. Additional features may include sensory abnormalities, peripheral neuropathy, optic neuropathy, developmental delay, impaired intellectual development, and seizures. Most patients have symptoms onset in the first decade of life, although age at onset is highly variable and ranges from birth to young adulthood." []
xref: MedGen:CN375611
xref: MeSH:D015419
xref: MIM:620538 "phenotype"
[Term]
id: DI-06777
name: Developmental delay with or without epilepsy
def: "An autosomal dominant neurodevelopmental disorder apparent from infancy or early childhood, and characterized by impaired intellectual development, speech delay, motor delay, and behavioral abnormalities. About half of patients develop various types of seizures. Some affected individuals have cerebellar atrophy and ataxia." []
xref: MedGen:CN375612
xref: MeSH:D065886
xref: MIM:620540 "phenotype"
[Term]
id: DI-06778
name: Neuronopathy, distal hereditary motor, autosomal recessive 10
def: "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. HMNR10 is a slowly progressive form characterized by distal muscle weakness and atrophy predominantly affecting the lower limbs, and resulting in gait abnormalities. Upper limb involvement is seen in some patients. HMNR10 has mostly juvenile or adult onset, although symptoms may manifest in infancy or childhood in some patients." []
synonym: "Neuropathy, distal hereditary motor, autosomal recessive 10" [UniProt]
synonym: "VRK1-related motor neuron disease" [UniProt]
xref: MedGen:CN375628
xref: MeSH:D009134
xref: MIM:620542 "phenotype"
[Term]
id: DI-06779
name: Arthrogryposis, distal, 12
def: "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA12 is an autosomal recessive form characterized by congenital contractures, primarily affecting the small joints of the fingers and toes. Additional features include knee, Achilles tendon, and toe contractures, spinal stiffness, scoliosis, and orthodontic abnormalities." []
synonym: "Arthrogryposis, distal, type 12" [UniProt]
xref: MedGen:CN375615
xref: MeSH:D001176
xref: MIM:620545 "phenotype"
[Term]
id: DI-06780
name: Congenital disorder of glycosylation 2BB
def: "A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2BB is an autosomal recessive form characterized by global developmental delay, severe intellectual disability, microcephaly, epilepsy, facial dysmorphism, and variable neurological findings." []
synonym: "CDG IIbb" [UniProt]
synonym: "CDGIIBB" [UniProt]
synonym: "Congenital disorder of glycosylation, type IIbb" [UniProt]
xref: MedGen:CN375616
xref: MeSH:D018981
xref: MIM:620546 "phenotype"
[Term]
id: DI-06781
name: Spermatogenic failure 88
def: "An autosomal recessive male infertility disorder characterized by non- obstructive azoospermia due to primary spermatogenic arrest." []
xref: MedGen:CN375625
xref: MeSH:D007248
xref: MIM:620547 "phenotype"
[Term]
id: DI-06782
name: Premature ovarian failure 22
def: "A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF22 is an autosomal recessive form characterized by infertility, and small to atrophic ovaries and no visible ovarian follicles." []
xref: MedGen:CN375626
xref: MeSH:D016649
xref: MIM:620548 "phenotype"
[Term]
id: DI-06783
name: Optic atrophy 14
def: "A disease characterized by visual impairment in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA14 is an autosomal dominant form characterized by adult-onset progressive reduction in visual acuity, and pale and excavated optic disk. Optical coherence tomography discloses a severe loss of the retinal nerve fiber layer." []
xref: MedGen:CN375629
xref: MeSH:D015418
xref: MIM:620550 "phenotype"
[Term]
id: DI-06784
name: Deafness, autosomal recessive, 121
def: "A form of non-syndromic deafness characterized by congenital or prelingual onset of moderate sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN375630
xref: MeSH:D034381
xref: MIM:620551 "phenotype"
[Term]
id: DI-06785
name: Craniometadiaphyseal osteosclerosis with hip dysplasia
def: "An autosomal recessive skeletal dysplasia characterized by macrocephaly, cranial hyperostosis, and vertebral endplate sclerosis. Other frequent findings include hip dysplasia, heart malformations, variable developmental delay, and hematological anomalies. Bone biopsy shows evidence of increased osteoblast and reduced osteoclast function at the growth plate resorption zone, leading to coarse trabeculae." []
xref: MedGen:CN375632
xref: MeSH:D010026
xref: MIM:620558 "phenotype"
[Term]
id: DI-06786
name: Immunodeficiency 113 with autoimmunity and autoinflammation
def: "An autosomal recessive immunologic disorder characterized by recurrent and severe infections, early-onset autoimmunity, inflammation, and facial dysmorphism. Features of autoimmunity and autoinflammation include hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants." []
xref: MedGen:CN375816
xref: MeSH:D007153
xref: MIM:620565 "phenotype"
[Term]
id: DI-06787
name: Leber-like hereditary optic neuropathy, autosomal recessive 2
def: "An autosomal recessive form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. LHONAR2 is characterized by subacute bilateral or asymmetrical visual loss, optic nerve pseudoedema and peripapillary telangiectasia in the early phase of the disease, and eventual partial recovery in some patients." []
xref: MedGen:CN375805
xref: MeSH:D015418
xref: MIM:620569 "phenotype"
[Term]
id: DI-06788
name: Ciliary dyskinesia, primary, 52
def: "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD52 is an autosomal recessive form characterized by laterality defects, and mild respiratory symptoms." []
synonym: "Ciliary dyskinesia, primary, 52, with or without situs inversus" [UniProt]
xref: MedGen:CN375806
xref: MeSH:D002925
xref: MIM:620570 "phenotype"
[Term]
id: DI-06789
name: Otosclerosis 11
def: "A form of otosclerosis, a pathological condition of the ear characterized by formation of spongy bone in the labyrinth capsule, especially in front of and posterior to the footplate of the stapes, resulting in conductive hearing impairment. Cochlear otosclerosis may also develop, resulting in sensorineural hearing loss. OTSC11 is an autosomal dominant form characterized by onset of progressive deafness in the second to third decade of life. Deafness ranges from moderate to severe, and may be conductive, sensorineural, or mixed." []
xref: MedGen:CN375808
xref: MeSH:D010040
xref: MIM:620576 "phenotype"
[Term]
id: DI-06790
name: Optic atrophy 15
def: "A disease characterized by visual impairment in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA15 is an autosomal recessive form." []
xref: MedGen:CN375811
xref: MeSH:D015418
xref: MIM:620583 "phenotype"
[Term]
id: DI-06791
name: Optic atrophy 16
def: "A disease characterized by visual impairment in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA16 is an autosomal recessive form. Patients also show mild sensorineural hearing impairment." []
xref: MedGen:CN375824
xref: MeSH:D015418
xref: MIM:620629 "phenotype"
[Term]
id: DI-06792
name: Garg-Mishra progeroid syndrome
def: "An autosomal recessive syndrome characterized by a progeroid appearance, severe dwarfism, mandibular hypoplasia, hyperopia, and partial lipodystrophy." []
xref: MedGen:CN375812
xref: MeSH:D019588
xref: MIM:620601 "phenotype"
[Term]
id: DI-06793
name: Lymphatic malformation 14
def: "A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM14 is an autosomal dominant form." []
xref: MedGen:CN375813
xref: MeSH:D008209
xref: MIM:620602 "phenotype"
[Term]
id: DI-06794
name: Immunodeficiency 114, folate-responsive
def: "An autosomal recessive immunologic disorder manifesting in early infancy and characterized by recurrent skin and respiratory infections, mucosal bleeding, oral ulcers, chronic diarrhea, and poor overall growth. Affected individuals have lymphopenia, low serum immunoglobulins, and impaired T cell proliferation. Some patients have global developmental delay." []
xref: MedGen:CN375822
xref: MeSH:D007153
xref: MIM:620603 "phenotype"
[Term]
id: DI-06795
name: Immunodeficiency 115 with autoinflammation
def: "An autosomal recessive immunologic disorder manifesting in early infancy and characterized by combined immunodeficiency, recurrent bacterial, viral, and fungal infections, as well as autoinflammatory features, including arthritis and dermatitis." []
xref: MedGen:CN375834
xref: MeSH:D007153
xref: MIM:620632 "phenotype"
[Term]
id: DI-06796
name: Long-Olsen-Distelmaier syndrome
def: "An autosomal dominant syndrome characterized by lethal dilated cardiomyopathy, bilateral cataracts, mild facial dysmorphisms, and liver dysfunction. Some patients have brain abnormalities, including pachygyria, polymicrogyria, and septo-optic dysplasia. Death occurs in infancy." []
synonym: "Long-Olsen syndrome" [UniProt]
xref: MedGen:CN375818
xref: MeSH:D000015
xref: MeSH:D002311
xref: MIM:620609 "phenotype"
[Term]
id: DI-06797
name: Oocyte/zygote/embryo maturation arrest 21
def: "An autosomal dominant, female infertility disorder characterized by zygote development arrest due to failure of pronuclei fusion." []
xref: MedGen:CN375823
xref: MeSH:D007246
xref: MIM:620610 "phenotype"
[Term]
id: DI-06798
name: Cardiomyopathy, dilated, 2J
def: "A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2J is an autosomal recessive form characterized by onset of heart failure within the first year of life." []
xref: MedGen:CN375833
xref: MeSH:D002311
xref: MIM:620635 "phenotype"
[Term]
id: DI-06799
name: Osteogenesis imperfecta 23
def: "An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI23 is a mild form characterized by osteopenia with or without recurrent fractures, platyspondyly, short and bowed long bones, and widened metaphyses. Platyspondyly and metaphyseal enlargement is present in infancy but resolve in middle childhood." []
synonym: "Osteogenesis imperfecta, type XXIII" [UniProt]
xref: MedGen:CN375836
xref: MeSH:D010013
xref: MIM:620639 "phenotype"
[Term]
id: DI-06800
name: Diaphragmatic hernia 5, X-linked
def: "A form of congenital diaphragmatic hernia, a posterolateral defect of the diaphragm, generally located on the left side, that permits the herniation of abdominal viscera into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. DIH5 is usually transmitted in an X-linked recessive pattern with males being severely affected. Early death is frequent." []
xref: MedGen:C1844025
xref: MeSH:D065630
xref: MIM:306950 "phenotype"
[Term]
id: DI-06801
name: Atrial fibrillation, familial, 8
def: "A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure." []
xref: MedGen:C2751607
xref: MeSH:D001281
xref: MIM:613055 "phenotype"
[Term]
id: DI-06802
name: Myoclonic epilepsy of Lafora 2
def: "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. MELF2 is an autosomal recessive, severe form characterized by onset of progressive neurodegeneration between 8 and 18 years of age. Initial features can include headache, myoclonic jerks, generalized seizures, and often visual hallucination. Typically, as seizures increase in frequency, cognitive function declines towards dementia, and affected individuals die usually within 10 years after onset. At the cellular level, MELF2 is characterized by accumulation of starch-like polyglucosans called Lafora bodies (LBs) that are most abundant in organs with the highest glucose metabolism: brain, heart, liver and skeletal muscle." []
xref: MedGen:C1850764
xref: MeSH:D020192
xref: MIM:620681 "phenotype"
[Term]
id: DI-06803
name: Spinocerebellar ataxia 4
def: "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA4 is characterized by the onset of balance disturbances and gait and limb ataxia usually in the fourth decade, although earlier onset in the teens or twenties has been reported. There is evidence of genetic anticipation within families. Inheritance is autosomal dominant." []
synonym: "Spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy" [UniProt]
xref: MedGen:C0752122
xref: MeSH:D020754
xref: MIM:600223 "phenotype"
[Term]
id: DI-06804
name: Prieto syndrome
def: "An X-linked recessive disorder characterized by impaired intellectual development, developmental delay, autism spectrum disorder, variable epilepsy, craniofacial dysmorphism, and structural brain abnormalities including polymicrogyria and cerebral atrophy." []
synonym: "MRXS2" [UniProt]
xref: MedGen:C1839730
xref: MeSH:D038901
xref: MIM:309610 "phenotype"
[Term]
id: DI-06805
name: Lui-Jee-Baron syndrome
def: "An X-linked disorder characterized by prenatal onset, generalized overgrowth, extreme tall stature, enlarged liver and spleen, macrocephaly, dysmorphic features, and normal development. Hemizygous males are more severely affected than heterozygous females." []
xref: MedGen:CN375869
xref: MeSH:D001848
xref: MIM:301114 "phenotype"
[Term]
id: DI-06806
name: Cornelia de Lange syndrome 6
def: "A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. CDLS6 inheritance is autosomal dominant." []
xref: MedGen:CN375871
xref: MeSH:D003635
xref: MIM:620568 "phenotype"
[Term]
id: DI-06807
name: Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline
def: "A neurodegenerative disorder characterized by early-onset ataxia, dysarthria, cognitive decline, sensorimotor axonal neuropathy and muscle weakness. Brain imaging shows cerebellar atrophy." []
xref: MedGen:CN375865
xref: MeSH:D020271
xref: MIM:620636 "phenotype"
[Term]
id: DI-06808
name: Tan-Almurshedi syndrome
def: "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, intellectual deficit, poor or absent speech, failure to thrive, short stature, microcephaly, and craniofacial anomalies." []
xref: MedGen:CN375863
xref: MeSH:D065886
xref: MIM:620641 "phenotype"
[Term]
id: DI-06809
name: Ciliary dyskinesia, primary, 53
def: "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left- right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD53 is an autosomal recessive form characterized by randomization of the left-right body asymmetry and respiratory symptoms." []
xref: MedGen:CN375856
xref: MeSH:D007619
xref: MIM:620642 "phenotype"
[Term]
id: DI-06810
name: Combined oxidative phosphorylation deficiency 59
def: "An autosomal recessive mitochondrial disease presenting with multisystem manifestations of variable severity. The disease spectrum ranges from lethal infantile Leigh syndrome to a milder disorder characterized by hypertrophic cardiomyopathy, lactic acidosis, attention deficit-hyperactivity disorder, and survival into adulthood." []
xref: MedGen:CN375857
xref: MeSH:D007888
xref: MIM:620646 "phenotype"
[Term]
id: DI-06811
name: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6
def: "A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged red fibers are seen on muscle biopsy." []
xref: MedGen:CN375864
xref: MeSH:D017246
xref: MIM:620647 "phenotype"
[Term]
id: DI-06812
name: Diabetes, deafness, developmental delay, and short stature syndrome
def: "An autosomal recessive, multisystem disorder characterized by childhood-onset non-autoimmune diabetes mellitus, short stature, bilateral sensorineural deafness, developmental delay, mildly impaired intellectual development, and microcephaly." []
xref: MedGen:CN375862
xref: MeSH:D002658
xref: MeSH:D003920
xref: MeSH:D006319
xref: MIM:620651 "phenotype"
[Term]
id: DI-06813
name: Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly
def: "An autosomal recessive disorder characterized by global developmental delay, mildly to moderately impaired intellectual development, attention deficit-hyperactivity disorder, hypotonia, seizure, poor social skills, and autistic traits. Brain imaging shows fronto- temporal lissencephaly and pachygyria." []
xref: MedGen:CN375872
xref: MeSH:D054082
xref: MeSH:D065886
xref: MIM:620653 "phenotype"
[Term]
id: DI-06814
name: Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies
def: "A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC11 is an autosomal dominant, syndromic form. Affected individuals have chronic and persistent thrombocytopenia, dysmorphic facial features, and multiple congenital anomalies with involvement of the cardiovascular, genitourinary, neurologic and skeletal systems. Additional features include leukopenia or anemia, poor growth with microcephaly, hypotonia, and mildly impaired intellectual development or learning disabilities." []
xref: MedGen:CN375875
xref: MeSH:D000015
xref: MeSH:D013921
xref: MIM:620654 "phenotype"
[Term]
id: DI-06815
name: Alfadhel syndrome
def: "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay and regression, intellectual disability, hypotonia, delayed motor development, stereotypy, behavioral abnormalities, and dysmorphic features." []
xref: MedGen:CN375873
xref: MeSH:D065886
xref: MIM:620655 "phenotype"
[Term]
id: DI-06816
name: Hoxha-Aliu syndrome
def: "An autosomal recessive disorder characterized by mild intellectual disability, eyelid ptosis, and limb anomalies including brachydactyly, clinodactyly, dysplastic or absent nails, brachytelephalangy, short metacarpals, and toe syndactyly." []
xref: MedGen:CN375878
xref: MeSH:D008607
xref: MeSH:D017880
xref: MIM:620662 "phenotype"
[Term]
id: DI-06817
name: Spondyloepimetaphyseal dysplasia, Guo-Campeau type
def: "An autosomal recessive, severe bone disease characterized by short stature, scoliosis, platyspondyly, irregular vertebral plates, facial dysmorphism, and variable anomalies of the pelvis, hips, and extremities including short, rudimentary, or absent digits." []
xref: MedGen:CN375879
xref: MeSH:D010009
xref: MIM:620663 "phenotype"
[Term]
id: DI-06818
name: Immunodeficiency 118
def: "An X-linked recessive disorder characterized by increased susceptibility to disseminated mycobacterial infections in infancy, notably after Bacillus Calmette-Guerin (BCG) vaccination. Initial clinical features include fever, lymphadenopathy, hepatosplenomegaly, abscesses, and osteomyelitis. Affected males usually recover with treatment, have no other infections, and show normal growth and development." []
synonym: "Immunodeficiency 118, mycobacteriosis, X-linked recessive" [UniProt]
xref: MedGen:CN376196
xref: MeSH:D007153
xref: MIM:301115 "phenotype"
[Term]
id: DI-06819
name: Spastic ataxia 10, autosomal recessive
def: "A form of spastic ataxia, a heterogeneous group of progressive neurodegenerative disorders characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. SPAX10 is a slowly progressive form with age at onset ranging from infancy to adulthood. Some patients show cerebellar atrophy on brain imaging." []
xref: MedGen:CN375955
xref: MeSH:D002524
xref: MIM:620666 "phenotype"
[Term]
id: DI-06820
name: Immunodeficiency 117
def: "An autosomal recessive immunologic disorder characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood, after exposure to weakly virulent mycobacteria. Affected individuals develop mycobacterial disease after BCG (bacille Calmette-Guerin) vaccination. Immunologic workup shows impaired development of myeloid and lymphoid cell subsets that secrete and respond to gamma-interferon." []
synonym: "Immunodeficiency 117, mycobacteriosis, autosomal recessive" [UniProt]
xref: MedGen:CN375951
xref: MeSH:D007153
xref: MIM:620668 "phenotype"
[Term]
id: DI-06821
name: Neurodegeneration with brain iron accumulation 9
def: "An autosomal dominant neurodegenerative disorder associated with iron accumulation, primarily in the basal ganglia. It is characterized by global developmental delay apparent from infancy, and progressive decline of motor and cognitive skills. Clinical features include delayed walking or inability to walk, spasticity with hyperreflexia, ataxia, dystonia, and poor or absent language." []
xref: MedGen:CN375952
xref: MeSH:D001480
xref: MeSH:D019636
xref: MIM:620669 "phenotype"
[Term]
id: DI-06822
name: Immunodeficiency, common variable, 15
def: "An autosomal dominant immunologic disorder resulting in recurrent severe infections since early childhood or infancy, and characterized by hypogammaglobulinemia with antibody deficiencies of IgM, IgG, and IgA due to impaired plasma cell homeostasis, although other B cell subset numbers are normal. T and NK cells are also normal. CVID15 inheritance is autosomal dominant." []
xref: MedGen:CN375956
xref: MeSH:D017074
xref: MIM:620670 "phenotype"
[Term]
id: DI-06823
name: Neutropenia, severe congenital, 11, autosomal dominant
def: "A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l, and early onset of severe bacterial infections. SCN11 is characterized by the onset of recurrent infections, mainly bacterial, in early childhood." []
xref: MedGen:CN375957
xref: MeSH:D009503
xref: MIM:620674 "phenotype"
[Term]
id: DI-06824
name: Leukodystrophy, hypomyelinating, 27
def: "A form of hypomyelinating leukodystrophy, a group of heterogeneous disorders characterized by persistent deficit of myelin observed on brain imaging. HLD27 is an autosomal recessive form characterized by global developmental delay apparent from infancy, poor or absent speech, ataxic gait or inability to sit or walk, spasticity, and abnormal eye movements. Some patients have seizures. Brain imaging shows hypomyelinating leukodystrophy, cerebellar atrophy, and thin corpus callosum." []
xref: MedGen:CN376030
xref: MeSH:D020279
xref: MIM:620675 "phenotype"
[Term]
id: DI-06825
name: Lipodystrophy, familial partial, 8
def: "An autosomal dominant form of partial lipodystrophy, a disorder characterized by abnormal subcutaneous fat distribution. FPLD8 patients show selective loss of subcutaneous adipose tissue from the limbs, beginning around 13 to 15 years of age, and abnormal accumulation of subcutaneous adipose tissue in the dorsal neck and face, as well as in the posterior thoracic and abdominal regions. The disorder is associated with metabolic abnormalities, including diabetes mellitus and hyperlipidemia." []
xref: MedGen:CN376064
xref: MeSH:D052496
xref: MIM:620679 "phenotype"
[Term]
id: DI-06826
name: Lipodystrophy, familial partial, 9
def: "An autosomal recessive form of partial lipodystrophy, a disorder characterized by abnormal subcutaneous fat distribution. FPLD9 patients are lean and show muscular hypertrophy, insulin-resistant diabetes with hyperinsulinemia, hypertriglyceridemia with low high- density lipoprotein (HDL) cholesterol, liver steatosis, and polycystic ovary syndrome with hirsutism. Some patients have more generalized lipoatrophy, whereas others have abnormal fat accumulation in the face and neck regions and show cushingoid or acromegalic facial features. Most patients also have neurologic features, including demyelinating polyneuropathy, developmental delay and intellectual disability." []
xref: MedGen:CN376198
xref: MeSH:D052496
xref: MIM:620683 "phenotype"
[Term]
id: DI-06827
name: Lipodystrophy, congenital generalized, 5
def: "A form of congenital generalized lipodystrophy, a metabolic disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and diabetes mellitus. CGL5 is an autosomal recessive form with onset in early childhood. Affected individuals also have short stature." []
xref: MedGen:CN376065
xref: MeSH:D052497
xref: MIM:620680 "phenotype"
[Term]
id: DI-06828
name: Premature ovarian failure 23
def: "A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF23 inheritance is autosomal recessive." []
xref: MedGen:CN376115
xref: MeSH:D016649
xref: MIM:620686 "phenotype"
[Term]
id: DI-06829
name: Moyamoya disease 7
def: "A form of Moyamoya disease, a progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. MYMY7 inheritance can be autosomal dominant or autosomal recessive." []
xref: MedGen:CN376272
xref: MeSH:D009072
xref: MIM:620687 "phenotype"
[Term]
id: DI-06830
name: Developmental dysplasia of the hip 3
def: "An autosomal dominant form of congenital dysplasia of the hip, a common skeletal anomaly in which the normal seating of the femoral head in the acetabulum is disrupted. Its severity ranges from mild instability of the femoral head with slight capsular laxity, permitting minimal lateral displacement, through moderate lateral displacement of the femoral head, without loss of contact of the head with the acetabulum, up to complete dislocation of the femoral head from the acetabulum." []
xref: MedGen:CN376199
xref: MeSH:D000082602
xref: MIM:620690 "phenotype"
[Term]
id: DI-06831
name: Intellectual developmental disorder, X-linked, syndromic, Gustavson type
def: "An X-linked disorder characterized by profound intellectual disability, microcephaly, severe structural brain abnormalities, epileptic seizures, severe vision defect, hearing loss, congenital heart defects, psychomotor deficits, and death in infancy or early childhood." []
synonym: "Gustavson syndrome" [UniProt]
synonym: "Intellectual developmental disorder with optic atrophy, deafness, and seizures" [UniProt]
synonym: "Mental retardation with optic atrophy, deafness, and seizures" [UniProt]
xref: MedGen:C0795965
xref: MeSH:D038901
xref: MIM:309555 "phenotype"
[Term]
id: DI-06832
name: Hyperemesis gravidarum
def: "An autosomal dominant condition characterized by severe nausea and vomiting in pregnancy. It occurs in up to 2% of pregnancies and leads to significant weight loss, dehydration, electrolyte imbalance, and ketonuria. It is associated with both maternal and fetal morbidity." []
xref: MedGen:CN376898
xref: MeSH:D006939
xref: MIM:620730 "phenotype"
[Term]
id: DI-06833
name: Bethlem myopathy 1B
def: "A form of Bethlem myopathy, a slowly progressive muscular dystrophy characterized by joint contractures, most frequently affecting the elbows and ankles, and muscle weakness and wasting involving the proximal and extensor muscles more than the distal and flexor ones. The clinical onset more often occurs in childhood or adulthood, but it can be prenatal with decreased fetal movements or neonatal with hypotonia. The hallmark of Bethlem myopathy is long finger flexion contractures. Inheritance can be autosomal dominant or autosomal recessive." []
xref: MedGen:CN376902
xref: MeSH:D009136
xref: MIM:620725 "phenotype"
[Term]
id: DI-06834
name: Bethlem myopathy 1C
def: "A form of Bethlem myopathy, a slowly progressive muscular dystrophy characterized by joint contractures, most frequently affecting the elbows and ankles, and muscle weakness and wasting involving the proximal and extensor muscles more than the distal and flexor ones. The clinical onset more often occurs in childhood or adulthood, but it can be prenatal with decreased fetal movements or neonatal with hypotonia. The hallmark of Bethlem myopathy is long finger flexion contractures. BTHLM1C inheritance is autosomal dominant." []
xref: MedGen:CN376903
xref: MeSH:D009136
xref: MIM:620726 "phenotype"
[Term]
id: DI-06835
name: Ullrich congenital muscular dystrophy 1B
def: "A form of Ullrich congenital muscular dystrophy, a disease characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis (rough skin). More severely affected patients manifest at birth and never achieve independent ambulation, while patients with milder phenotypes might maintain ambulation into adulthood. Inheritance can be autosomal dominant or autosomal recessive." []
xref: MedGen:CN376896
xref: MeSH:D009136
xref: MIM:620727 "phenotype"
[Term]
id: DI-06836
name: Ullrich congenital muscular dystrophy 1C
def: "A form of Ullrich congenital muscular dystrophy, a disease characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis (rough skin). More severely affected patients manifest at birth and never achieve independent ambulation, while patients with milder phenotypes might maintain ambulation into adulthood. Inheritance can be autosomal dominant or autosomal recessive." []
xref: MedGen:CN376897
xref: MeSH:D009136
xref: MIM:620728 "phenotype"
[Term]
id: DI-06837
name: Epidermolytic hyperkeratosis 2B, autosomal recessive
def: "An autosomal recessive form of epidermolytic hyperkeratosis, a skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop." []
xref: MedGen:CN376785
xref: MeSH:D017488
xref: MIM:620707 "phenotype"
[Term]
id: DI-06838
name: Intellectual developmental disorder, X-linked 113
def: "A disorder characterized by mild intellectual disability, and developmental delay mainly affecting verbal and non-verbal communication skills. Motor development is normal." []
xref: MedGen:CN376362
xref: MeSH:D065886
xref: MIM:301116 "phenotype"
[Term]
id: DI-06839
name: Intellectual developmental disorder, autosomal dominant 74
def: "An autosomal dominant disorder characterized by global developmental delay, including delay of motor skills and speech delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphology." []
xref: MedGen:CN376303
xref: MeSH:D065886
xref: MIM:620688 "phenotype"
[Term]
id: DI-06840
name: Intellectual developmental disorder, autosomal recessive 81
def: "An autosomal recessive disorder characterized by variable features including mild to severe developmental delay, hypotonia, feeding difficulties, extreme fatigue, and neurobehavioral abnormalities." []
xref: MedGen:CN376308
xref: MeSH:D065886
xref: MIM:620700 "phenotype"
[Term]
id: DI-06841
name: Yuksel-Vogel-Bauer syndrome
def: "An autosomal recessive disorder characterized by multisystemic manifestations including cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations." []
xref: MedGen:CN376339
xref: MeSH:D065886
xref: MIM:620703 "phenotype"
[Term]
id: DI-06842
name: Encephalopathy, porphyria-related
def: "An autosomal recessive disorder characterized by rapidly progressive neurologic abnormalities apparent in early infancy. Clinical features include global developmental delay, impaired intellectual development, hypotonia, ataxia, dysarthria, spasticity, ocular abnormalities, and peripheral neuropathy. Laboratory studies show increased plasma and urinary levels of porphyrin precursors. Death in childhood may occur." []
xref: MedGen:CN376852
xref: MeSH:D001927
xref: MIM:620704 "phenotype"
[Term]
id: DI-06843
name: Spermatogenic failure 89
def: "An autosomal recessive male infertility disorder due to severely reduced progressive motility of sperm." []
xref: MedGen:CN376340
xref: MeSH:D007248
xref: MIM:620705 "phenotype"
[Term]
id: DI-06844
name: Leukoencephalopathy, porphyria-related
def: "An autosomal recessive disorder characterized by slowly progressive spasticity, ataxia, peripheral neuropathy, with or without mild cognitive impairment, and/or ocular disease with onset in childhood or adolescence." []
xref: MedGen:CN376853
xref: MeSH:D001927
xref: MIM:620711 "phenotype"
[Term]
id: DI-06845
name: Polydactyly-macrocephaly syndrome
def: "An autosomal dominant syndrome characterized by progressive macrocephaly and post-axial polydactyly, a condition defined by the occurrence of supernumerary digits affecting the fifth finger and/or toe. Additional variable features include ocular anomalies, global developmental delay and autistic traits." []
xref: MedGen:CN376787
xref: MeSH:D017689
xref: MeSH:D058627
xref: MIM:620712 "phenotype"
[Term]
id: DI-06846
name: Deafness, autosomal recessive, 122
def: "A form of non-syndromic deafness characterized by adult-onset progressive, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN376840
xref: MeSH:D006319
xref: MIM:620714 "phenotype"
[Term]
id: DI-06847
name: Bleeding disorder, vascular-type
def: "An autosomal dominant disorder characterized by increased bleeding tendency, without platelet dysfunction. Affected individuals experience spontaneous episodic bleeding, usually beginning in childhood. Clinical manifestations include epistaxis, oral cavity bleeding, menorrhagia, and excessive bleeding during surgery or childbirth." []
xref: MedGen:CN376839
xref: MeSH:D006474
xref: MIM:620715 "phenotype"
[Term]
id: DI-06848
name: Orofaciodigital syndrome 20
def: "A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD20 is an autosomal recessive form characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones." []
synonym: "Orofaciodigital syndrome XX" [UniProt]
xref: MedGen:CN376838
xref: MeSH:D009958
xref: MIM:620718 "phenotype"
[Term]
id: DI-06849
name: Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism
def: "An autosomal dominant disorder characterized by global developmental delay, impaired intellectual development, early-onset seizures, poor overall growth, delayed walking, hypotonia and/or ataxia, and facial dysmorphism. Some patients have hypoplasia of the corpus callosum and cerebral atrophy." []
xref: MedGen:CN376901
xref: MeSH:D065886
xref: MIM:620719 "phenotype"
[Term]
id: DI-06850
name: Deafness, autosomal dominant, 90
def: "A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA90 is characterized by bilateral progressive hearing loss that affects all frequencies." []
xref: MedGen:CN376841
xref: MeSH:D006319
xref: MIM:620722 "phenotype"
[Term]
id: DI-06851
name: Hyperferritinemia
def: "An autosomal recessive condition characterized by increased serum ferritin levels in the absence of iron overload or other clinical symptoms." []
xref: MedGen:CN376904
xref: MeSH:D000085583
xref: MIM:620729 "phenotype"
[Term]
id: DI-06852
name: Microphthalmia/Coloboma 11
def: "A form of colobomatous microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like coloboma, opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). MCOPCB11 is an autosomal dominant form with incomplete penetrance." []
xref: MedGen:CN376899
xref: MeSH:D003103
xref: MeSH:D008850
xref: MIM:620731 "phenotype"
[Term]
id: DI-06853
name: Cardiomyopathy, familial hypertrophic, 30, atrial
def: "An autosomal recessive heart disease characterized by enlarged and thickened left atrium, left atrial fibrosis, atrial arrhythmias, and hypertension." []
xref: MedGen:CN376925
xref: MeSH:D009202
xref: MIM:620734 "phenotype"
[Term]
id: DI-06854
name: Orofaciodigital syndrome 2
def: "A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD2 is an autosomal recessive form characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies, maxillary hypoplasia, conductive hearing loss, polydactyly, syndactyly, brachydactyly, and mesomelic lower limb shortening." []
synonym: "Mohr syndrome" [UniProt]
synonym: "OFDS II" [UniProt]
synonym: "Oral-facial-digital syndrome II" [UniProt]
synonym: "Orofaciodigital syndrome II" [UniProt]
xref: MedGen:C0026363
xref: MeSH:D009958
xref: MIM:252100 "phenotype"
[Term]
id: DI-06855
name: Muscular dystrophy, congenital, with rapid progression
def: "An autosomal recessive congenital disease that manifests with severely progressive muscular dystrophy, and results in death in infancy or early childhood. Clinical features include hypotonia and poor feeding, delayed motor development, progressive weakness and lethargy, and respiratory insufficiency. Some patients may have refractory epilepsy and cataracts." []
xref: MedGen:C1850840
xref: MeSH:D009136
xref: MIM:254100 "phenotype"
[Term]
id: DI-06856
name: Episodic ataxia 8
def: "A form of episodic ataxia, a neurologic disorder characterized by episodes of poor coordination and balance. EA8 affected individuals have attacks of unsteadiness, general weakness, and slurred speech. Additional variable features include twitching around the eyes, nystagmus, myokymia, and persistent intention tremor. Inheritance is autosomal dominant." []
xref: MedGen:C4015108
xref: MeSH:D001259
xref: MIM:616055 "phenotype"
[Term]
id: DI-06857
name: Macular dystrophy with or without cone dysfunction
def: "A form of macular dystrophy, a retinal disease in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea. MDCD is a progressive, autosomal recessive form characterized by reduced visual acuity and macular atrophy involving the fovea. Some patients also exhibit mild generalized cone dysfunction." []
xref: MedGen:CN377233
xref: MeSH:D008268
xref: MIM:620762 "phenotype"
[Term]
id: DI-06858
name: Glaucoma 1, open angle, H
def: "A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. GLC1H is an autosomal dominant form manifesting at age between 3 and 40 years, in most patients. Some affected individuals present with glaucoma after age 35 or 40 years." []
xref: MedGen:C1969811
xref: MeSH:D005902
xref: MIM:611276 "phenotype"
[Term]
id: DI-06859
name: Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities
def: "An autosomal recessive disorder characterized by failure to thrive, global developmental delay with intellectual disability and absent speech, seizures, hypotonia, inability to walk, orofacial dyskinesia, involuntary movements, and structural brain abnormalities." []
xref: MedGen:CN376932
xref: MeSH:D065886
xref: MIM:620732 "phenotype"
[Term]
id: DI-06860
name: Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
def: "An autosomal recessive disorder characterized by hypotonia in infancy, delayed psychomotor development and intellectual impairment. Affected individuals commonly display traits associated with autistic spectrum disorder including anxiety, hyperactivity and stereotyped movements. Episodes of seizures in the first few years of life may occur. Brain imaging shows abnormalities of the lateral ventricles." []
xref: MedGen:CN377037
xref: MeSH:D065886
xref: MIM:620746 "phenotype"
[Term]
id: DI-06861
name: Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities
def: "An autosomal recessive disorder manifesting in late infancy or early childhood. It is characterized by developmental delay, intellectual disability, learning difficulties, behavioral abnormalities, and parkinsonism and spasticity usually developing in the third or fourth decades." []
xref: MedGen:CN377229
xref: MeSH:D065886
xref: MIM:620747 "phenotype"
[Term]
id: DI-06862
name: Spermatogenic failure 90
def: "An autosomal recessive male infertility disorder due to severely reduced progressive motility of sperm." []
xref: MedGen:CN376944
xref: MeSH:D007248
xref: MIM:620744 "phenotype"
[Term]
id: DI-06863
name: Deafness, autosomal recessive, 123
def: "A form of non-syndromic deafness characterized by bilateral, severe to profound sensorineural hearing loss with onset in the first decade of life. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN376948
xref: MeSH:D006319
xref: MIM:620745 "phenotype"
[Term]
id: DI-06864
name: Megalencephaly-polydactyly syndrome
def: "An autosomal dominant syndrome characterized by megalencephaly, ventriculomegaly, postaxial polydactyly, and increased risk of neuroblastoma." []
xref: MedGen:CN377205
xref: MeSH:D017689
xref: MeSH:D058627
xref: MIM:620748 "phenotype"
[Term]
id: DI-06865
name: Generalized epilepsy with febrile seizures plus 12
def: "An autosomal dominant neurologic disorder with variable expressivity and incomplete penetrance. Affected individuals have variable types of seizures, most often febrile seizures, sometimes combined with non- febrile focal or generalized seizures. Rarely, afebrile tonic-clonic seizures have been observed." []
xref: MedGen:CN377231
xref: MeSH:D003294
xref: MeSH:D004829
xref: MIM:620755 "phenotype"
[Term]
id: DI-06866
name: Developmental and epileptic encephalopathy 114
def: "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE114 is an autosomal dominant form characterized by moderate-to-severe intellectual disability, onset of epilepsy within the first 18 months of life, and a choreiform, dystonic or dyskinetic movement disorder." []
xref: MedGen:CN377244
xref: MeSH:D013036
xref: MIM:620774 "phenotype"
[Term]
id: DI-06867
name: Thrombocytopenia 12 with or without myopathy
def: "A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC12 is an autosomal recessive form manifesting from infancy or early childhood with bleeding episodes. Clinical features include petechiae, easy bruising, epistaxis, hematomas, menorrhagia, and increased bleeding after trauma or surgery. Rare patients may have thrombocytopenia without bleeding. Some affected individuals have myopathic features, usually apparent in the second or third decades of life." []
xref: MedGen:CN377238
xref: MeSH:D009135
xref: MeSH:D013921
xref: MIM:620757 "phenotype"
[Term]
id: DI-06868
name: Corneal dystrophy, Lisch epithelial
def: "An autosomal dominant corneal dystrophy characterized by gray, band- shaped and feathery opacities in the cornea, that sometimes appear in whorled patterns. The opaque bands consist of clear, densely crowded, intra-epithelial blisters. Vision may be impaired if the bands involve the central cornea." []
synonym: "Band-shaped and whorled microcystic corneal epithelial dystrophy" [UniProt]
synonym: "Lisch epithelial corneal dystrophy" [UniProt]
xref: MedGen:C2749050
xref: MeSH:D003317
xref: MIM:620763 "phenotype"
[Term]
id: DI-06869
name: Seckel syndrome 11
def: "A form of Seckel syndrome, a rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability." []
xref: MedGen:CN377239
xref: MeSH:D004392
xref: MeSH:D008831
xref: MIM:620767 "phenotype"
[Term]
id: DI-06870
name: Jeffries-Lakhani neurodevelopmental syndrome
def: "An autosomal recessive neurodevelopmental disorder characterized by developmental delay, early-onset epilepsy, and hypotonia apparent from infancy. Clinical features include motor delay, speech delay, and impaired intellectual development. About half of patients are non- ambulatory and/or non-verbal. Some patients have cardiac rhythm disturbances, and some experience recurrent infections. Premature death due to cardiac arrhythmia or epilepsy may occur." []
xref: MedGen:CN377243
xref: MeSH:D065886
xref: MIM:620771 "phenotype"
[Term]
id: DI-06871
name: Developmental and epileptic encephalopathy 113
def: "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE113 is an autosomal recessive form characterized by severe early-onset recurrent epilepsy." []
xref: MedGen:CN377240
xref: MeSH:D013036
xref: MIM:620772 "phenotype"
[Term]
id: DI-06872
name: Polycystic lung disease
def: "An autosomal recessive disease characterized by pulmonary alveolar proteinosis, marked peribronchovascular and parenchymal lymphocytosis, peribronchiolar pulmonary fibrosis, progressive diffuse parenchymal lung cyst formation and enlargement, progressive obstructive airflow limitation, and recurrent secondary infections. Additional features may include digital clubbing, allergies, and atopic dermatitis." []
synonym: "Cystic disease of lung" [UniProt]
xref: MedGen:C0555214
xref: MeSH:D008171
xref: MIM:219600 "phenotype"
[Term]
id: DI-06873
name: Hemifacial myohyperplasia
def: "A rare disease characterized by facial asymmetry due to unilateral muscular hypertrophy mimicking spasm and orofacial dystonia." []
xref: MedGen:C1847521
xref: MeSH:D005146
xref: MIM:606773 "phenotype"
[Term]
id: DI-06874
name: Cutis laxa, autosomal recessive, 1D
def: "A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. ARCL1D features include skin laxity, thin and translucent skin with easy bruising, facial dysmorphism, joint hypermobility, muscle hypotonia, and multiple severe herniations. Skin laxity may progress with age." []
xref: MedGen:CN377272
xref: MeSH:D003483
xref: MIM:620780 "phenotype"
[Term]
id: DI-06875
name: Intellectual developmental disorder, X-linked, syndromic 37
def: "A syndromic neurodevelopmental disorder characterized by developmental delay, intellectual disability, behavioral abnormalities, hypotonia, congenital anomalies, and facial dysmorphism." []
xref: MedGen:CN377268
xref: MeSH:D038901
xref: MeSH:D065886
xref: MIM:301118 "phenotype"
[Term]
id: DI-06876
name: Intellectual developmental disorder, autosomal recessive 82
def: "An autosomal recessive disorder characterized by developmental delay, motor and speech delay, intellectual disability, and behavioral anomalies." []
xref: MedGen:CN377626
xref: MeSH:D065886
xref: MIM:620779 "phenotype"
[Term]
id: DI-06877
name: Pulmonary hypertension, primary, 6
def: "A form of primary pulmonary hypertension, a disease defined by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. Primary pulmonary hypertension exhibits incomplete penetrance, sex bias and variable age of onset, both within and between families. PPH6 is an autosomal recessive form." []
xref: MedGen:CN377269
xref: MeSH:D006976
xref: MIM:620777 "phenotype"
[Term]
id: DI-06878
name: Otosclerosis 12
def: "A form of otosclerosis, a pathological condition of the ear characterized by formation of spongy bone in the labyrinth capsule, especially in front of and posterior to the footplate of the stapes, resulting in conductive hearing impairment. Cochlear otosclerosis may also develop, resulting in sensorineural hearing loss. OTSC12 is an autosomal dominant form with incomplete penetrance." []
xref: MedGen:CN377642
xref: MeSH:D010040
xref: MIM:620792 "phenotype"
[Term]
id: DI-06879
name: Neuromuscular disorder, congenital, with dysmorphic facies
def: "An autosomal recessive neuromuscular disorder characterized by multiple congenital joint contractures, hypotonia, muscle weakness, and facial dysmorphism. Patients may also exhibit motor delay, speech delay, impaired intellectual development, and abnormal brain imaging." []
xref: MedGen:CN377270
xref: MeSH:D009468
xref: MIM:620775 "phenotype"
[Term]
id: DI-06880
name: Thrombocytopenia 13, syndromic
def: "An autosomal recessive form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC13 patients have enlarged, gray platelets with defective function. Some affected individuals have leukopenia or anemia and pancytopenia. Additional variable features include mitral valve malformations, pyloric stenosis, and impaired intellectual development." []
synonym: "Thrombocytopenia, autosomal recessive, 13" [UniProt]
xref: MedGen:CN377271
xref: MeSH:D013921
xref: MIM:620776 "phenotype"
[Term]
id: DI-06881
name: Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder
def: "An autosomal dominant disorder with variable expressivity and incomplete penetrance. It is characterized by language impairment, speech delay, intellectual disability, attention deficit hyperactivity disorder and autism spectrum disorder. Additional variable features include developmental delay, seizures, skeletal anomalies, respiratory difficulties, and ophthalmologic anomalies." []
xref: MedGen:CN377634
xref: MeSH:D065886
xref: MIM:620782 "phenotype"
[Term]
id: DI-06882
name: Developmental and epileptic encephalopathy 115
def: "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE115 is an autosomal recessive, severe form characterized by onset soon after birth. Affected individuals show massive reduction of white matter, hypo- or aplasia of the corpus callosum, and neurodevelopmental arrest. Death in the first year of life may occur." []
xref: MedGen:CN377534
xref: MeSH:D013036
xref: MIM:620783 "phenotype"
[Term]
id: DI-06883
name: Neurodevelopmental disorder plus optic atrophy
def: "An autosomal recessive disorder characterized by mild developmental delay, intellectual disability and childhood-onset optic atrophy or ataxia." []
xref: MedGen:CN377627
xref: MeSH:D009896
xref: MeSH:D065886
xref: MIM:620784 "phenotype"
[Term]
id: DI-06884
name: Neurodevelopmental disorder with progressive movement abnormalities
def: "An autosomal recessive, progressive disorder characterized by global developmental delay, intellectual disability, significant expressive language impairment, behavioral abnormalities, and movement disorders including dystonia, spasticity and cerebellar ataxia associated with gait impairment. Additional features include facial dysmorphism, oculomotor anomalies, microcephaly, seizures and brain imaging abnormalities. Parkinsonism may develop in older patients." []
xref: MedGen:CN377640
xref: MeSH:D065886
xref: MIM:620785 "phenotype"
[Term]
id: DI-06885
name: Basal ganglia calcification, idiopathic, 9, autosomal recessive
def: "A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas." []
xref: MedGen:CN377636
xref: MeSH:D001480
xref: MeSH:D002114
xref: MIM:620786 "phenotype"
[Term]
id: DI-06886
name: Aplasia cutis-enamel dysplasia
def: "An autosomal dominant disorder characterized by congenital absence of a portion of skin of the scalp with or without skull defects, enamel hypoplasia, and neurodevelopmental delay with autism spectrum disorder." []
xref: MedGen:CN377641
xref: MeSH:D004476
xref: MeSH:D065886
xref: MIM:620789 "phenotype"
[Term]
id: DI-06887
name: Neurodevelopmental disorder with hypotonia and seizures
def: "An autosomal recessive, severe disorder characterized by global developmental delay, language impairment, impaired intellectual development, hypotonia, and early-onset seizures." []
xref: MedGen:CN377645
xref: MeSH:D065886
xref: MIM:620790 "phenotype"
[Term]
id: DI-06888
name: Deafness, autosomal recessive, 124
def: "A form of non-syndromic deafness characterized by progressive sensorineural hearing loss with onset at birth. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN377639
xref: MeSH:D006319
xref: MIM:620794 "phenotype"
[Term]
id: DI-06889
name: Autoinflammation with episodic fever and immune dysregulation
def: "An autosomal recessive disorder characterized by recurrent fever and autoinflammation with onset in infancy or early childhood. Variable clinical manifestations include lymphadenopathy, hepatosplenomegaly, gastrointestinal inflammation, polyarthritis and joint inflammation, parotitis, and immune dysregulation." []
synonym: "Sharpenia" [UniProt]
xref: MedGen:CN377644
xref: MeSH:D056660
xref: MIM:620795 "phenotype"
[Term]
id: DI-06890
name: Proteasome-associated autoinflammatory syndrome 6
def: "An autosomal dominant, autoinflammatory disorder characterized by recurrent fever, skin rash, myositis, liver dysfunction, splenomegaly, pulmonary hypertension, and basal ganglia calcifications. Disease onset is in early infancy." []
xref: MedGen:CN377643
xref: MeSH:D056660
xref: MIM:620796 "phenotype"
[Term]
id: DI-06891
name: Developmental and epileptic encephalopathy 116
def: "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE116 is autosomal dominant form characterized by severe developmental delay, seizures, and white matter abnormalities." []
xref: MedGen:CN377722
xref: MeSH:D013036
xref: MIM:620806 "phenotype"
[Term]
id: DI-06892
name: Neuroocular syndrome 2, paroxysmal type
def: "A form of neuroocular syndrome, a group of disorders characterized by developmental delay, impaired intellectual development and ocular anomalies as primary findings. NOC2 is an autosomal dominant form characterized by eye deviation or nystagmus with abnormal head posturing apparent from birth or early infancy. Affected individuals also have hypotonia, mild developmental delay, dysarthria, and gait ataxia. Most patients have mildly impaired intellectual development." []
synonym: "Benign paroxysmal tonic upgaze of childhood with ataxia" [UniProt]
synonym: "Paroxysmal tonic upgaze, benign childhood, with ataxia" [UniProt]
xref: MedGen:C1868576
xref: MeSH:D005124
xref: MeSH:D065886
xref: MIM:168885 "phenotype"
[Term]
id: DI-06893
name: Spermatogenic failure, X-linked, 8
def: "A male infertility disorder characterized by a significant reduction in progressive sperm motility, and aberrant sperm morphology. Patient sperm show head and midpiece defects with deformed and detached acrosomes, and flagellar defects." []
xref: MedGen:CN377823
xref: MeSH:D007248
xref: MIM:301119 "phenotype"
[Term]
id: DI-06894
name: Amyloidosis, hereditary systemic 3
def: "A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD3 clinical features include amyloid neuropathy, nephropathy, hepatopathy, and cardiomyopathy. Inheritance is autosomal dominant." []
synonym: "Amyloidosis, Iowa type" [UniProt]
synonym: "Amyloidosis, type III" [UniProt]
synonym: "Amyloidosis, type VI" [UniProt]
synonym: "Amyloidosis, van Allen type" [UniProt]
xref: MedGen:C4551500
xref: MeSH:D028226
xref: MIM:620657 "phenotype"
[Term]
id: DI-06895
name: Amyloidosis, hereditary systemic 5
def: "A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD5 primarily affects the viscera, and the predominant clinical features are renal dysfunction of varying severity, and intra-abdominal bleeding. Inheritance is autosomal dominant." []
xref: MedGen:CN377809
xref: MeSH:D028226
xref: MIM:620658 "phenotype"
[Term]
id: DI-06896
name: Amyloidosis, hereditary systemic 6
def: "A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD6 is mainly characterized by gastrointestinal and cardiac symptoms. Neurologic involvement, sicca syndrome, and carpal tunnel syndrome may also be present. Inheritance is autosomal dominant." []
xref: MedGen:CN377810
xref: MeSH:D028226
xref: MIM:620659 "phenotype"
[Term]
id: DI-06897
name: Premature ovarian failure 24
def: "A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF24 inheritance is autosomal recessive." []
xref: MedGen:CN377825
xref: MeSH:D016649
xref: MIM:620840 "phenotype"
[Term]
id: DI-06898
name: Spermatogenic failure 91
def: "An autosomal recessive, male infertility disorder due to globozoospermia and asthenoteratozoospermia. Patient sperm show defects of the head, including a misshapen rounded head and detachment of the acrosome, and the sperm fail to attach to the zona pellucida of the egg." []
xref: MedGen:CN377824
xref: MeSH:D007248
xref: MIM:620838 "phenotype"
[Term]
id: DI-06899
name: MHC class I deficiency 2
def: "An autosomal recessive, progressive disorder characterized by chronic bacterial infections of the upper and lower respiratory tract apparent in the first or second decades of life, nasal polyps, and ulcers with granulomatous inflammation affecting the nasal cavity, upper respiratory tract, or skin. Patients may develop bronchiectasis and respiratory failure." []
xref: MedGen:CN377817
xref: MeSH:D007153
xref: MIM:620813 "phenotype"
[Term]
id: DI-06900
name: MHC class I deficiency 3
def: "An autosomal recessive disorder characterized by glomerulonephritis and markedly reduced cell surface expression of class I HLA antigens. Additional features are herpes zoster infection and polyps of the stomach and colon." []
xref: MedGen:CN377818
xref: MeSH:D007153
xref: MIM:620814 "phenotype"
[Term]
id: DI-06901
name: Rothmund-Thomson syndrome 4
def: "A form of Rothmund-Thomson syndrome, a disorder characterized by sparse hair, eyebrows and eyelashes, juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dysplastic nails, and skeletal and dental abnormalities. Inheritance is autosomal recessive. RTS4 patients also exhibit microcephaly and photosensitivity with bullae. Growth failure is severe, with some individuals showing signs of growth hormone or combined pituitary hormone deficiency." []
synonym: "Rothmund-Thomson syndrome, type 4" [UniProt]
xref: MedGen:CN377741
xref: MeSH:D004392
xref: MeSH:D008831
xref: MeSH:D019066
xref: MIM:620819 "phenotype"
[Term]
id: DI-06902
name: El Hayek-Chahrour neurodevelopmental syndrome
def: "An autosomal recessive neurodevelopmental disorder characterized by lack of speech, intellectual disability, autism, and developmental delay." []
xref: MedGen:CN377742
xref: MeSH:D065886
xref: MIM:620820 "phenotype"
[Term]
id: DI-06903
name: Immunodeficiency 119
def: "An autosomal recessive immunologic disorder characterized by childhood-onset of recurrent respiratory tract infections, susceptibility to chronic DNA-based viral infections, hypogammaglobulinemia, and panlymphopenia." []
xref: MedGen:CN377829
xref: MeSH:D007153
xref: MIM:620825 "phenotype"
[Term]
id: DI-06904
name: Immunodeficiency 120
def: "An autosomal recessive immunologic disorder manifesting in early childhood with recurrent upper and lower respiratory tract infections, lymphopenia, and hypogammaglobulinemia. Affected individuals may also develop persistent viral infections, particularly of the herpes family. Additional variable features include hearing loss, speech delay, short stature, and mildly impaired intellectual development." []
xref: MedGen:CN377830
xref: MeSH:D007153
xref: MIM:620836 "phenotype"
[Term]
id: DI-06905
name: MHC class II deficiency 2
def: "An autosomal recessive disorder characterized by immunodeficiency and recurrent bacterial, viral, fungal and parasitic infections in early infancy. Additional manifestations include failure to thrive, chronic diarrhea, and autoimmune features and allergies that may be present in some patients. Death often occurs in infancy or early childhood." []
synonym: "Bare lymphocyte syndrome, type II, complementation group B" [UniProt]
xref: MedGen:CN377819
xref: MeSH:D007153
xref: MIM:620815 "phenotype"
[Term]
id: DI-06906
name: MHC class II deficiency 3
def: "An autosomal recessive disorder characterized by immunodeficiency and recurrent bacterial, viral, fungal and parasitic infections from birth, usually affecting the respiratory and gastrointestinal tract. Most patients die in infancy or early childhood." []
synonym: "Bare lymphocyte syndrome, type II, complementation group C" [UniProt]
xref: MedGen:CN377820
xref: MeSH:D007153
xref: MIM:620816 "phenotype"
[Term]
id: DI-06907
name: MHC class II deficiency 5
def: "An autosomal recessive disorder characterized by a defect in constitutive and inducible surface expression of MHC class II molecules on B cells, monocytes, and activated T cells. Affected individuals may present in infancy with infections and hypogammaglobulinemia, but the disease course is mostly benign and patients do not develop severe infections. Some individuals may be asymptomatic." []
synonym: "Bare lymphocyte syndrome, type II, complementation group E" [UniProt]
xref: MedGen:C1859538
xref: MeSH:D007153
xref: MIM:620818 "phenotype"
[Term]
id: DI-06908
name: MHC class II deficiency 4
def: "An autosomal recessive disorder characterized by immunodeficiency, failure to thrive, and recurrent bacterial, viral, fungal and parasitic infections from birth, usually affecting the respiratory and gastrointestinal tract. Patients may die in infancy or early childhood." []
synonym: "Bare lymphocyte syndrome, type II, complementation group D" [UniProt]
xref: MedGen:CN377821
xref: MeSH:D007153
xref: MIM:620817 "phenotype"
[Term]
id: DI-06909
name: Spermatogenic failure 92
def: "An autosomal recessive, male infertility disorder characterized by asthenozoospermia and defects of the radial spokes and doublet microtubules of sperm flagellum observed by ultrastructural analysis." []
xref: MedGen:CN377832
xref: MeSH:D007248
xref: MIM:620848 "phenotype"
[Term]
id: DI-06910
name: Spermatogenic failure 93
def: "An autosomal recessive, male infertility disorder characterized by asthenozoospermia and multiple morphologic abnormalities of the sperm flagella." []
xref: MedGen:CN377835
xref: MeSH:D007248
xref: MIM:620849 "phenotype"
[Term]
id: DI-06911
name: Spermatogenic failure 94
def: "An autosomal recessive, male infertility disorder characterized by reduced progressive sperm motility and multiple morphologic abnormalities of the flagella, including irregularly shaped, short, absent, coiled, and multiple tails." []
xref: MedGen:CN377842
xref: MeSH:D007248
xref: MIM:620850 "phenotype"
[Term]
id: DI-06912
name: Immunodeficiency 121 with autoinflammation
def: "An autosomal dominant immunologic disorder characterized by severe combined immunodeficiency with T- and B-cell lymphopenia and low- normal NK cell numbers, failure to thrive, diarrhea, alopecia, and desquamating erythematous rash. Remaining T cells have limited T-cell receptor repertoires, a skewed memory phenotype, and an elevated CD4/CD8 ratio. Bone marrow examination indicates severely impaired B- cell maturation with limited V(D)J recombination." []
xref: MedGen:CN377841
xref: MeSH:D007153
xref: MIM:620807 "phenotype"
[Term]
id: DI-06913
name: Auroneurodental syndrome
def: "An autosomal recessive syndrome characterized by progressive high- frequency sensorineural hearing loss, craniofacial dysmorphism, developmental delay and mild proximal and axial muscle weakness." []
xref: MedGen:CN377834
xref: MeSH:D006319
xref: MIM:620830 "phenotype"
[Term]
id: DI-06914
name: Neurodevelopemental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities
def: "An autosomal recessive, severe disorder apparent from infancy and characterized by global developmental delay, poor or absent speech, severe intellectual disability, hypotonia, and musculoskeletal and gastrointestinal abnormalities. Brain imaging shows aplasia or hypoplasia of corpus callosum in most patients." []
xref: MedGen:CN377843
xref: MeSH:D065886
xref: MIM:620852 "phenotype"
[Term]
id: DI-06915
name: Ehlers-Danlos syndrome, classic-like, 3
def: "A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSCLL3 is an autosomal dominant form. Affected individuals have joint hypermobility, frequent joint dislocations, atrophic scarring, prolonged bleeding time and age- related aortic dilatation and rupture." []
xref: MedGen:CN377850
xref: MeSH:D004535
xref: MIM:620865 "phenotype"
[Term]
id: DI-06916
name: Prostate cancer, hereditary, X-linked 3
def: "A condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma." []
xref: MedGen:CN378110
xref: MeSH:D011471
xref: MIM:301120 "phenotype"
[Term]
id: DI-06917
name: Spastic paraplegia 30B, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG30B patients have a pure form of the disorder, limited to spastic paraplegia, whereas others may have a complicated form that includes additional features such as cognitive dysfunction, learning disabilities, peripheral sensorimotor neuropathy, urinary sphincter problems, and/or cerebellar atrophy." []
xref: MedGen:CN377893
xref: MeSH:D015419
xref: MIM:620607 "phenotype"
[Term]
id: DI-06918
name: Muscular dystrophy, limb-girdle, autosomal recessive 29
def: "An autosomal recessive form of limb girdle muscular dystrophy, a group of genetically heterogeneous muscular disorders that share proximal muscle weakness as the major attribute. Most limb girdle muscular dystrophies present with elevated creatinine kinase and myopathic electromyographic features. Disease is usually progressive to a variable degree, ranging from minor disability to complete inability to ambulate, and can involve the large proximal muscles, as well as axial and facial muscles. Different disease forms may exhibit skeletal muscle hypertrophy, kyphoscoliosis, and contractures or involve other muscle groups and manifest with distal weakness, cardiomyopathy, dysphagia, and respiratory difficulties. LGMDR29 is characterized by muscle weakness predominantly affecting the proximal lower limbs, although upper limb involvement also occurs. Additional features include joint contractures, spinal abnormalities, and significant restrictive ventilatory dysfunction. In rare cases, central nervous system involvement has been reported, including cataracts, developmental delay, and brain imaging abnormalities." []
xref: MedGen:CN378116
xref: MeSH:D049288
xref: MIM:620793 "phenotype"
[Term]
id: DI-06919
name: Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity
def: "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. HMNR11 is an autosomal recessive form characterized by slowly progressive muscle weakness in the distal upper and lower limbs, lower limb spasticity and hyperreflexia, with onset in the first decade of life. Affected individuals have difficulty walking, although ambulation is retained into adulthood. Nerve conduction studies reveal axonal motor neuropathy with neurogenic changes in the electromyography." []
xref: MedGen:CN377891
xref: MeSH:D009134
xref: MIM:620854 "phenotype"
[Term]
id: DI-06920
name: Immunodeficiency 122
def: "An autosomal recessive, severe immunologic disorder characterized by recurrent viral and bacterial infections of the respiratory tract and skin, appearing in early infancy. Additional clinical features include poor overall growth, global developmental delay with poor motor skills, impaired intellectual development, and poor or absent speech acquisition. Some patients have diffuse skin rash, erythroderma, sensorineural hearing loss, lymphadenopathy, dysmorphic facial features, and tooth abnormalities. Death in early childhood may occur." []
xref: MedGen:CN377892
xref: MeSH:D007153
xref: MIM:620869 "phenotype"
[Term]
id: DI-06921
name: Deafness, autosomal recessive, 125
def: "A form of non-syndromic deafness characterized by congenital sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information." []
xref: MedGen:CN377894
xref: MeSH:D006319
xref: MIM:620877 "phenotype"
[Term]
id: DI-06922
name: Autoinflammation with arthritis and vasculitis
def: "An autosomal recessive disorder characterized by onset of chronic and systemic autoinflammation in infancy or early childhood. Affected individuals have recurrent fever, erythematous skin rashes, vasculitis, oral aphthous lesions, and polyarthritis. Additional variable features are poor overall growth, microcytic anemia, mild intellectual disability, and seizures." []
xref: MedGen:CN378117
xref: MeSH:D056660
xref: MIM:620880 "phenotype"
[Term]
id: DI-06923
name: Multiple mitochondrial dysfunctions syndrome 9B
def: "An autosomal recessive disorder characterized by optic and/or auditory neuropathy with onset in the first two decades of life, in some cases associated with developmental delay or regression, global hypotonia, pyramidal, cerebellar signs, and seizures." []
xref: MedGen:CN378115
xref: MeSH:D028361
xref: MIM:620887 "phenotype"
[Term]
id: DI-06924
name: Cardiomyopathy, dilated, 2K
def: "A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2K is an autosomal recessive form characterized by predominantly left ventricular involvement, although patients with biventricular disease have been observed." []
xref: MedGen:CN378114
xref: MeSH:D002311
xref: MIM:620894 "phenotype"
[Term]
id: DI-06925
name: Ovarian dysgenesis 11
def: "An autosomal recessive form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads." []
xref: MedGen:CN378113
xref: MeSH:D023961
xref: MIM:620897 "phenotype"
[Term]
id: DI-06926
name: Polycystic kidney disease 8
def: "A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts may also occur in other organs, particularly the liver. PKD8 inheritance is autosomal dominant." []
xref: MedGen:CN378119
xref: MeSH:D007690
xref: MIM:620903 "phenotype"
[Term]
id: DI-06927
name: Spastic paraplegia 92, autosomal recessive
def: "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG92 is an autosomal recessive form characterized by onset of lower limb spasticity and gait abnormalities in the first or second decade of life. Some patients have mild cognitive deficits." []
xref: MedGen:CN378154
xref: MeSH:D015419
xref: MIM:620911 "phenotype"
[Term]
id: DI-06928
name: Parkinson disease 26, autosomal dominant
def: "An autosomal dominant form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK26 shows incomplete penetrance." []
xref: MedGen:CN378153
xref: MeSH:D010300
xref: MIM:620923 "phenotype"
[Term]
id: DI-06929
name: Spermatogenic failure 95
def: "An autosomal recessive, male infertility disorder characterized by markedly reduced progressive sperm motility and multiple morphologic abnormalities of the flagella, including irregularly shaped, short, absent, coiled, and bent flagella." []
xref: MedGen:CN378155
xref: MeSH:D007248
xref: MIM:620917 "phenotype"
[Term]
id: DI-06930
name: Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1
def: "An autosomal recessive disorder characterized by microcephaly, profound neurodevelopmental impairment, distinctive craniofacial features, ectodermal defects, and tetraparesis." []
xref: MedGen:CN378152
xref: MeSH:D065886
xref: MIM:620888 "phenotype"
[Term]
id: DI-06931
name: Immunodeficiency 123 with HPV-related verrucosis
def: "An autosomal recessive immunologic disorder characterized by susceptibility to human papilloma virus (HPV) infections and the development of HPV-related common verrucosis in the first decade of life. In some patients with HPV2 infection, warts may progress to severe generalized hyperkeratotic cutaneous papillomatosis with cutaneous horns ('tree-man' phenotype). In patients with HPV4 infection, warts remains stable and may even regress with age." []
xref: MedGen:CN378121
xref: MeSH:D007153
xref: MIM:620901 "phenotype"
[Term]
id: DI-06932
name: Immunodeficiency 125
def: "An autosomal recessive immunologic disorder characterized by failure to thrive and chronic diarrhea in infancy, and recurrent bacterial, viral, and fungal infections. Patients have severe human papilloma virus (HPV) infections with disseminated common warts, and the bone marrow is hypoplastic with low levels of CD34+ hematopoietic stem cells. Counts of B cells, monocytes, and dendritic cells are low in patients blood." []
xref: MedGen:CN378160
xref: MeSH:D007153
xref: MIM:620926 "phenotype"