Questions, Feedback & Help
Send us an email and we'll get back to you ASAP. Or you can read our Frequently Asked Questions.

WormBase Tree Display for DO_term: DOID:0111233

expand all nodes | collapse all nodes | view schema

Name Class

DOID:0111233Namecongenital muscular dystrophy-dystroglycanopathy A14
StatusValid
DefinitionA congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31.
SynonymExactMDDGA14
Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14
ParentIs_aDOID:0111229
DB_infoDatabaseOMIMdisease615350
Attribute_ofGene_by_orthologyWBGene00016583