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DO Term : autosomal recessive limb-girdle muscular dystrophy type 2D [DOID:0110278] 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 alpha-sarcoglycan gene (SGCA) on chromosome 17q.

synonyms:
DMDA2,
ORDO:62,
primary adhalinopathy,
608099,
ICD10CM:G71.0,
muscular dystrophy, limb-girdle, type 2D,
Duchenne-like autosomal recessive muscular dystrophy type 2,
Alpha-sarcoglycanopathy,
OMIM:608099,
LGMD2D

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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