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DOID:0111234 - congenital muscular dystrophy-dystroglycanopathy A7
Disease Ontology Definition:A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1.
Synonyms: MDDGA7, Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related, congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7,
Echinobase Genes
:
crppa
| MIM:614643 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7; mddga7 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee