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3-methylglutaconic aciduria type 3
Summary
- Synonym
-
- 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
- Definition
- A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene.
- Super Class
- 3-methylglutaconic aciduria autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110004
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
