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DO Term : congenital generalized lipodystrophy type 4 [DOID:0111138] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2.

synonyms:
congenital generalised lipodystrophy type 4,
generalised congenital lipodystrophy with myopathy,
OMIM:613327,
generalized congenital lipodystrophy with myopathy,
generalised congenital lipodystrophy type 4,
Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy,
613327,
generalized congenital lipodystrophy type 4,
ICD10CM:E88.1,
ORDO:228429,
GARD:10937

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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