3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Disease ID: disease_node_19198
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| Dbxref | MIM:614739, ORDO:352328 |
|---|---|
| Subclassof | DOID_0060336, DOID_0050737 |
| Data Source | DOID |
| Synonyms | 3-methylglutaconic aciduria type 6, MEGDEL, MEGDEL syndrome, MGCA6 |
| Doid Label | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| Doid Description | A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19198 |
| Doid Id | DOID_0110001 |
| Label | 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)