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Ontology Browser

Term:
familial partial lipodystrophy (DOID:0050440)
Annotations: Rat: (10) Mouse: (10) Human: (12) Chinchilla: (10) Bonobo: (10) Dog: (10) Squirrel: (10) Pig: (10)
Parent Terms Term With Siblings Child Terms
familial partial lipodystrophy +   
Inherited conditions characterized by the partial loss of ADIPOSE TISSUE, either confined to the extremities with normal or increased fat deposits on the face, neck and trunk (type 1), or confined to the loss of SUBCUTANEOUS FAT from the limbs and trunk (type 2). Type 3 is associated with mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.

Synonyms
Exact Synonyms: Koberling Dunnigan Syndrome ;   familial partial lipodystrophies ;   familial partial lipodystrophy, Kobberling type ;   reverse partial lipodystrophies ;   reverse partial lipodystrophy
Narrow Synonyms: lipoatrophy with diabetes, hepatic steatosis, hypertrophic cardiomyopathy, and leukomelanodermic papules
Primary IDs: MESH:D052496
Alternate IDs: RDO:0007593
Xrefs: GARD:11962 ;   NCI:C84708 ;   OMIM:PS151660 ;   ORDO:98306
Definition Sources: MESH:D052496, http://en.wikipedia.org/wiki/Familial_partial_lipodystrophy, http://omim.org/entry/608600

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.