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
04588 CMT-2V Charcot-Marie-Tooth disease?, axonal, type 2V (CMT-2V) 616491 - 0 0 NAGLU - -
01823 GSD-3 storage disease, glycogen, type III (GSD-3) 232400 - 26 9 AGL - -
00139 ID intellectual disability (ID) - - 1787 1520 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 535 more - -
01934 MPS-3B mucopolysaccharidosis, type IIIB (MPS-3B) 252920 - 3 3 NAGLU - -
05615 TNDM diabetes mellitus, transient neonatal (TNDM) - - 0 0 ABCC8, KCNJ11, PLAGL1 - -
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