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DO Term : autosomal recessive limb-girdle muscular dystrophy type 2N [DOID:0110298] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3.

synonyms:
ICD10CM:G71.0,
LGMD2N,
ORDO:206559,
613158,
OMIM:613158,
muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2,
muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related

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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