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DO Term : muscular dystrophy-dystroglycanopathy type C12 [DOID:0112381] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21.

synonyms:
muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related,
LGMD due to POMK deficiency,
OMIM:616094,
616094,
ORDO:445110,
MDDGC12,
Limb-girdle muscular dystrophy due to POMK deficiency

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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