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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
familial partial lipodystrophy type 1 
familial partial lipodystrophy type 2  
familial partial lipodystrophy type 3  
familial partial lipodystrophy type 4  
familial partial lipodystrophy type 5  
familial partial lipodystrophy type 6  
Familial Partial Lipodystrophy Type 7  
Familial Partial Lipodystrophy Type 8  
Familial Partial Lipodystrophy Type 9  
An autosomal recessive metabolic disorder characterized by the loss of adipose tissue resulting in a lean appearance with muscular hypertrophy, usually most apparent in the limbs and trunk. Caused by homozygous mutation in the PLAAT3 gene on chromosome 11q12.

Synonyms
Exact Synonyms: FPLD9
Primary IDs: OMIM:620683
Definition Sources: OMIM:620683

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