3-Methylglutaconic Aciduria Type 3
Disease ID: disease_node_19194
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| Dbxref | MIM:258501, ORDO:67047 |
|---|---|
| Subclassof | DOID_0060336, DOID_0050737 |
| Data Source | DOID |
| Synonyms | 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 |
| Doid Label | 3-methylglutaconic aciduria type 3 |
| Doid Description | A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19194 |
| Doid Id | DOID_0110004 |
| Label | 3-Methylglutaconic Aciduria Type 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)