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DO Term : autosomal recessive limb-girdle muscular dystrophy type 2O [DOID:0110292] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34.

synonyms:
ICD10CM:G71.0,
ORDO:206564,
MDDGC3,
LGMD2O,
613157,
muscular dystrophy-dystroglycanopathy (limb-girdle) type C3,
muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related,
OMIM:613157

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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