All diseases

5 entries on 1 page. Showing entries 1 - 5.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
03805 AGS6 Aicardi-Goutieres syndrome, type 6 (AGS6) 615010 AR - - ADAR - -
01291 DSH dyschromatosis symmetrica hereditaria (DSH) 127400 AD 8 8 ADAR - autosomal dominant
00139 ID intellectual disability (ID) - - 2800 2481 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 556 more - -
05611 NDD neurodevelopmental disorder (NDD) - - 4453 4273 ACBD6, ADARB1, AP1G1, ARFGEF1, ATG12, ATP9A, CAMK2D, CAMSAP1, CAPRIN1, CASP2, CHASERR, CHKA, CLCN3, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, 94 more - -
05960 NEDHYMS neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) 618862 AR - - ADARB1 - -
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