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DO Term : autosomal recessive limb-girdle muscular dystrophy type 2U [DOID:0110295] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21.

synonyms:
ORDO:352479,
LGMD2U,
muscular dystrophy-dystroglycanopathy (limb-girdle) type C7,
ICD10CM:G71.0,
OMIM:616052,
autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency,
MDDGC7,
muscular dystrophy limb-girdle type 2U,
616052

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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