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
00139 ID intellectual disability (ID) - - 2473 2159 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 543 more - -
01056 JBTS10 Joubert syndrome, type 10 (JBTS-10) 300804 XLR - - OFD1 - -
01054 OFD1 orofaciodigital syndrome, type I (OFD-1) 311200 XLD 4 3 OFD1 - -
02154 RP23 retinitis pigmentosa, type 23 (RP23) 300424 XLR - - OFD1 - -
01055 SGBS2 Simpson-Golabi-Behmel syndrome, type 2 (SGBS-2) 300209 XLR 2 2 OFD1 - -
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