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DO Term : autosomal recessive limb-girdle muscular dystrophy type 2H [DOID:0110282] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q.

synonyms:
OMIM:254110,
ORDO:1878,
sarcotubular myopathy,
254110,
ICD10CM:G71.0,
LGMD2H,
limb-girdle muscular dystrophy due to TRIM32 deficiency,
muscular dystrophy Hutterite type

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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