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
02177 - superactivity, phosphoribosylpyrophosphate synthetase 300661 XLR 9 9 PRPS1 - -
02215 ARTS;MRXS18 Arts syndrome (ARTS, MRXS18) 301835 XLR 2 2 PRPS1 - -
02254 CMTX5 Charcot-Marie-Tooth disease, X-linked recessive, type 5 (CMTX-5) 311070 XLR 3 2 PRPS1 - -
00021 DFNX1 deafness, X-linked, type 1 (DFNX-1) 304500 XL 1 1 PRPS1 - -
00139 ID intellectual disability (ID) - - 2356 2055 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 543 more - -
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