All diseases

8 entries on 1 page. Showing entries 1 - 8.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01639 AKU alkaptonuria (AKU) 203500 AR 1 - HGD - -
02310 D2HGA1 aciduria, D-2-hydroxyglutaric, type 1 (D2HGA-1) 600721 AR 36 29 D2HGDH - autosomal recessive
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 - -
01847 L2HGA aciduria, L-2-hydroxyglutaric (L2HGA) 236792 AR 215 214 L2HGDH - -
00401 NLS1 Neu-Laxova syndrome (NLS) 256520 AR 7 8 PHGDH - -
00399 NPHS nephrotic syndrome (NPHS) - - 108 90 ADCK4, ARHGDIA, DAAM2, DGKE, EMP2, LAMB2, NPHS1, NPHS2, NUP205, NUP93, PLCE1, PTPRO, WT1 - -
03867 NPHS8 nephrotic syndrome, type 8 (NPHS-8) 615244 AR - - ARHGDIA - -
02392 PHGDHD deficiency, phosphoglycerate dehydrogenase (PHGDHD) 601815 AR - - PHGDH - -
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