3-methylglutaconic aciduria type 1

Summary

DOID:0110002 - 3-methylglutaconic aciduria type 1

Disease Ontology Definition:A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22.

Synonyms: 3-methylglutaconic aciduria type I, 3-methylglutaconyl-CoA hydratase deficiency, 3MG-CoA hydratase deficiency, MGA type I, MGA1

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

: auh

MIM:

MIM:250950 - 3-@methylglutaconic aciduria, type i; mgca1

MIM:250950 - 3-@methylglutaconic aciduria, type i; mgca1

Other Model Organisms: Alliance, 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)