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Metadata
ID DOID:0110004
Name 3-methylglutaconic aciduria type 3
Definition A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene.
https://www.ncbi.nlm.nih.gov/pubmed/11668429, https://www.ncbi.nlm.nih.gov/pubmed/12126933
Xrefs

OMIM:258501

ORDO:67047

Synonyms

3-methylglutaconic aciduria type III [EXACT]

autosomal recessive optic atrophy plus syndrome [EXACT]

autosomal recessive optic atrophy type 3 [EXACT]

Costeff optic atrophy syndrome [EXACT]

Costeff syndrome [EXACT]

infantile optic atrophy with chorea and spastic paraplegia [EXACT]

Iraqi-Jewish optic atrophy plus [EXACT]

MGA3 [EXACT]

Parent Relationships

is_a 3-methylglutaconic aciduria

is_a autosomal recessive disease

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