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DOID:0111231 - congenital muscular dystrophy-dystroglycanopathy type A8
Disease Ontology Definition:A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1.
Synonyms: MDDGA8, Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related, congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8,
Xenbase Genes :
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee