All diseases

4 entries on 1 page. Showing entries 1 - 4.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
02794 HLD-2;PMLD-1 leukodystrophy, hypomyelinating, type 2 (HLD-2, Pelizaeus-Merzbacher like disease 1 (PMLD-1)) 608804 - - - GJC2 - -
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 - -
03343 LMPH-1C lymphedema, hereditary, type Ic (LMPH-1C) 613480 - - - GJC2 - -
03283 SPG-44 paraplegia, spastic, type 44, autosomal recessive (SPG-44) 613206 - - - GJC2 - -
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