Term Name: | 3-methylglutaconic aciduria type 3 |
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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 |
Definition: | A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene. |
Ontology: | Human Disease [DOID:0110004] ( DOID:0110004 ) |