muscular dystrophy-dystroglycanopathy type C12 Disease Ontology Browser

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Disease Ontology Browser

muscular dystrophy-dystroglycanopathy type C12 (DOID:0112381)
Alliance: disease page
Synonyms: LGMD due to POMK deficiency; Limb-girdle muscular dystrophy due to POMK deficiency; MDDGC12; muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related
Alt IDs: OMIM:616094, ORDO:445110
Definition: 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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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