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Summary Literature (0)
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,

Echinobase Genes :

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): 3-methylglutaconic aciduria (is_a)