familial partial lipodystrophy type 2

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pparg, lmna

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007906 - familial partial lipodystrophy, Dunnigan type

MONDO:0007906 - familial partial lipodystrophy, Dunnigan type

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), familial partial lipodystrophy (is_a)