All diseases

4 entries on 1 page. Showing entries 1 - 4.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00562 HRDS Hypoparathyroidism-retardation-dysmorphism syndrome 241410 AR - - TBCE - -
00139 ID intellectual disability (ID) - - 2708 2390 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 554 more - -
00561 KCS1 Kenny-Caffey syndrome, type 1 (KCS-1) 244460 AR - - TBCE - -
05254 PEAMO encephalopathy, progressive, with amyotrophy and optic atrophy (PEAMO) 617207 AR 1 1 TBCE - -
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