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Ontology Browser
Term:
Congenital Generalized Lipodystrophy Type 5 (DOID:9003348)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
congenital generalized lipodystrophy type 1  
congenital generalized lipodystrophy type 2  
congenital generalized lipodystrophy type 3  
congenital generalized lipodystrophy type 4  
Congenital Generalized Lipodystrophy Type 5  
An autosomal recessive metabolic disorder characterized by childhood onset of lipodystrophy, severe nonalcoholic fatty liver disease, dyslipidemia, hypertriglyceridemia, low HDL, and insulin-resistant diabetes mellitus. Caused by compound heterozygous mutation in the PCYT1A gene on chromosome 3q29.
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 

Synonyms
Exact Synonyms: CGL5
Primary IDs: OMIM:620680
Definition Sources: OMIM:620680

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