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DOID:0111240 - congenital muscular dystrophy-dystroglycanopathy type A2
Disease Ontology Definition:A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3.
Synonyms: MDDGA2, Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related, congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2,
Xenbase Genes :
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee