Optic Atrophy 11
Disease ID: disease_node_17292
Connections displayed (default: 10).
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| Dbxref | MIM:617302 |
|---|---|
| Subclassof | DOID_5723, DOID_0050737 |
| Data Source | DOID |
| Synonyms | OPA11 |
| Doid Label | optic atrophy 11 |
| Doid Description | An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the YME1L1 gene on chromosome 10p12.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17292 |
| Doid Id | DOID_0111436 |
| Label | Optic Atrophy 11 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Optic Atrophy(ID:disease_node_5715) (Disease)