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Echinobase
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, Costeff optic atrophy syndrome, Costeff syndrome, Iraqi-Jewish optic atrophy plus, MGA3, autosomal recessive optic atrophy plus syndrome, autosomal recessive optic atrophy type 3, infantile optic atrophy with chorea and spastic paraplegia,

Echinobase Genes : opa3


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

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)