3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia

Summary

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 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

: clpb

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014561 - 3-methylglutaconic aciduria, type VIIB

MONDO:0014561 - 3-methylglutaconic aciduria, type VIIB

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), autosomal recessive disease (is_a)