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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:0000135 | Hypogonadism |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000505 | Visual impairment |
| HP:0000508 | Ptosis |
| HP:0000518 | Cataract |
| HP:0000551 | Color vision defect |
| HP:0000602 | Ophthalmoplegia |
| HP:0000603 | Central scotoma |
| HP:0000639 | Nystagmus |
| HP:0000648 | Optic atrophy |
