Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0003202 | Skeletal muscle atrophy |
| HP:0003326 | Myalgia |
| HP:0003691 | Scapular winging |
| HP:0007141 | Sensorimotor neuropathy |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem |
| HP:0007371 | Corpus callosum atrophy |
| HP:0009921 | Duane anomaly |
| HP:0011968 | Feeding difficulties |
| HP:0012378 | Fatigue |
| HP:0012511 | Temporal optic disc pallor |
