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| Term | muscular dystrophy-dystroglycanopathy type C12 | ID (Ontology) | DOID:0112381 (Human Disease) |
| 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. | ||
| Also Known As | "LGMD due to POMK deficiency" ; "Limb-girdle muscular dystrophy due to POMK deficiency" ; "MDDGC12" (for all, see Synonyms field below) | ||
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congenital muscular dystrophy |__muscular dystrophy-dystroglycanopathy__ autosomal genetic disease | |__autosomal recessive disease____________| muscular dystrophy-dystroglycanopathy type C12 |
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| Is a |
autosomal recessive disease muscular dystrophy-dystroglycanopathy |
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MIM:616094 ORDO:445110 |
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