Summary Literature (0)

DOID:0110004 - 3-methylglutaconic aciduria type 3

Disease Ontology Definition:A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene.

Synonyms: 3-methylglutaconic aciduria type III, autosomal recessive optic atrophy plus syndrome, autosomal recessive optic atrophy type 3, Costeff optic atrophy syndrome, Costeff syndrome, infantile optic atrophy with chorea and spastic paraplegia, Iraqi-Jewish optic atrophy plus, MGA3

Echinobase Genes : opa3


OMIM:

MIM:258501 - 3-@methylglutaconic aciduria, type iii; mgca3

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee