All diseases

7 entries on 1 page. Showing entries 1 - 7.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01058 - Proud syndrome 300004 XL - - ARX - -
00264 DEE1 encephalopathy, developmental and epileptic, type 1 308350 XLR 34 31 ARX - -
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 - -
00266 LISX2;XLAG lissencephaly, X-linked, type 2 (LISX-2, with ambiguous genitalia (XLAG)) 300215 XL 9 - ARX - -
00187 MRX;IDX mental retardation, X-linked (MRX, intellectual disability (IDX)) - - 1921 1900 ARX, CXorf56, IL1RAPL1 - X-linked
01057 MRXARX mental retardation, X-linked, type 29 and others (MRX29) 300419 XLR - - ARX - -
00265 PRTS mental retardation, Partington syndrome (PRTS) 309510 XLR 2 1 ARX - -
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