muscular dystrophy-dystroglycanopathy type C12

Summary

DOID:0112381 - muscular dystrophy-dystroglycanopathy type C12

Disease Ontology 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.

Synonyms: LGMD due to POMK deficiency, Limb-girdle muscular dystrophy due to POMK deficiency, MDDGC12, muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pomk

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), muscular dystrophy-dystroglycanopathy (is_a)