familial partial lipodystrophy type 6

Summary

DOID:0070206 - familial partial lipodystrophy type 6

Disease Ontology Definition:A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13.

Synonyms: familial partial lipodystrophy associated with LIPE mutations, FPLD6, LIPE-related familial partial lipodystrophy, LIPE-related FPLD

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

: lipe

MIM:

MIM:615980 - LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6; FPLD6

MIM:615980 - LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6; FPLD6

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

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

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