3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia

Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Echinobase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.

Echinobase

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

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)