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DOID:0111235 - congenital muscular dystrophy-dystroglycanopathy type A12
Disease Ontology Definition:A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21.
Synonyms: MDDGA12, Walker-Warburg syndrome or muscle-eye-brain disease POMK-related, congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12,
Xenbase Genes :
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee