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DOID:0110003 - 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
Disease Ontology Definition:A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13.
Synonyms: 3-methylglutaconic aciduria type 7, 3-methylglutaconic aciduria type VII, MEGCANN, MGA7, MGCA7
Xenbase Genes : clpb
MONDO:0014561 - 3-methylglutaconic aciduria, type VIIB |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee