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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
Referenced OMIM:
| OMIM:250950 - 3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1 |
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes
:
auh
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s):
3-methylglutaconic aciduria (is_a)
