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Congenital Generalized Lipodystrophy

Disease ID: disease_node_20148

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DbxrefGARD:13388, MIM:PS608594
SubclassofDOID_0080298, DOID_0050737, DOID_0080015
Data SourceDOID
Doid Labelcongenital generalized lipodystrophy
Doid DescriptionA lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance. OMIM mapping confirmed by DO. [SN].
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_20148
Doid IdDOID_0050585
Disease Has Basis InHP_0001197
LabelCongenital Generalized Lipodystrophy