Preferred Name

congenital generalized lipodystrophy

Synonyms
Definitions

OMIM mapping confirmed by DO. [SN]. A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance.

ID

http://purl.obolibrary.org/obo/DOID_0050585

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

OMIM:PS608594

GARD:13388

definition

A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance.

disease has basis in

http://purl.obolibrary.org/obo/HP_0001197

has material basis in

http://purl.obolibrary.org/obo/GENO_0000148

has_obo_namespace

disease_ontology

id

DOID:0050585

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim

label

congenital generalized lipodystrophy

notation

DOID:0050585

prefLabel

congenital generalized lipodystrophy

subClassOf

http://purl.obolibrary.org/obo/DOID_0080298

http://purl.obolibrary.org/obo/DOID_0080015

http://purl.obolibrary.org/obo/DOID_0050737

Delete Subject Author Type Created
No notes to display