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optic atrophy 5
Summary
- Synonym
-
- OPA5
- Definition
- An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21.
- Super Class
- autosomal dominant disease optic atrophy
External Links
- Disease Ontology
- DOID:0111438
- Mondo Disease Ontology
- MeSH
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000726 | Dementia |
| HP:0000738 | Hallucinations |
| HP:0000819 | Diabetes mellitus |
| HP:0000821 | Hypothyroidism |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001257 | Spasticity |
| HP:0001258 | Spastic paraplegia |
| HP:0001263 | Global developmental delay |
| HP:0001269 | Hemiparesis |
