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Summary Literature (0)
DOID:0070202 - familial partial lipodystrophy type 2


Disease Ontology Definition:A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.

Synonyms: FPLD2, familial lipodystrophy of limbs and lower trunk, familial partial lipodystrophy Dunnigan type, reverse partial lipodystrophy

Referenced OMIM:
OMIM:151660 - LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : pparg, lmna

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant disease (is_a), familial partial lipodystrophy (is_a)


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