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
00705 - Metachondromatosis 156250 - - - PTPN11 - -
00139 ID intellectual disability (ID) - - - - AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 515 more - -
00704 JMML;CMML leukemia, juvenile myelomonocytic (JMML, leukemia, chronic myelomonocytic (CMML)) 607785 - - - ARHGAP26, EZH2, MLLT11, NF1, PTPN11 - -
00703 LPRD-1 LEOPARD syndrome, type 1 (LPRD-1) 151100 - - - PTPN11 - -
00383 NS1 Noonan syndrome 1 (NS1) 163950 - - - PTPN11 - -
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