All diseases

6 entries on 1 page. Showing entries 1 - 6.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
06939 HDKR Hardikar syndrome 301068 XLD 1 1 MED12 - -
00139 ID intellectual disability (ID) - - 2695 2377 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
01075 MRXSLF Lujan-Fryns syndrome 309520 XLR 1 1 MED12 - -
06604 NIZIDS Nizon-Isidor syndrome 618872 AD 1 1 MED12L - -
02198 OHDOX Ohdo syndrome, X-linked (OHDOX) 300895 XLR - - MED12 - -
01074 OKS Opitz-Kaveggia syndrome (OKS) 305450 XLR 10 10 MED12 - -
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