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DOID:0081133 - 3-methylglutaconic aciduria type 7a
Disease Ontology Definition:A 3-methylglutaconic aciduria that is characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia and that has_material_basis_in heterozygous dominant-negative mutation in the CLPB gene on chromosome 11q13.
Synonyms:
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 with cataracts, neurologic involvement and neutropenia (is_a),
autosomal dominant disease (is_a)