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Disease Ontology Browser
3-methylglutaconic aciduria type 3 (DOID:0110004)
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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
Alt IDs: OMIM:258501, ORDO:67047
Definition: A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene.

Disease References using Mouse Models (3)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
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