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 HLD2;PMLD1 leukodystrophy, hypomyelinating, type 2 (HLD-2, Pelizaeus-Merzbacher like disease 1 (PMLD-1)) 608804 AR 7 7 GJC2 - -
00139 ID intellectual disability (ID) - - 2334 2032 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 542 more - -
03343 LMPHM3 lymphatic malformation 3 613480 AD 2 2 GJC2 - -
03283 SPG44 paraplegia, spastic, type 44, autosomal recessive (SPG-44) 613206 AR 2 1 GJC2 - -
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