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DO Term : congenital generalized lipodystrophy type 1 [DOID:0111135] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3.

synonyms:
608594,
GARD:84,
Brunzell syndrome AGPAT2-related,
ICD10CM:E88.1,
OMIM:608594,
Berardinelli-Seip Congenital Lipodystrophy, Type 1

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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