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
00196 CGL2 lipodystrophy, congenital generalized, type 2 (CGL-2) 269700 AR 97 97 BSCL2 - -
00195 HMN5A neuropathy, motor, distal, hereditary, type Va (HMN-5A) 600794 AD 23 22 BSCL2, GARS - -
04135 PELD encephalopathy, progressive, with/without lipodystrophy (PELD) 615924 AR 0 0 BSCL2 - -
00197 SPG17 paraplegia, spastic, autosomal dominant, type 17 (SPG-17, Silver) 270685 AD 33 33 BSCL2 - -
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