| 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 | |
| Subsets |
DO_rare_slim |
| 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 |