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MIRAGE
Stargardt disease
Summary
- Synonym
-
- STARGARDT DISEASE 1
- Definition
- An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.
- Super Class
- age related macular degeneration
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O35600 | Retinal-specific phospholipid-transporting ATPase ABCA4 | |
| Q9EQC4 | Very long chain fatty acid elongase 4 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007663 | Reduced visual acuity |
| HP:0000608 | Macular degeneration |
| HP:0007814 | Retinal pigment epithelial mottling |
| HP:0000551 | Color vision defect |
| HP:0007704 | Paroxysmal involuntary eye movements |
| HP:0008059 | Aplasia/Hypoplasia of the macula |
| HP:0000649 | Abnormality of visual evoked potentials |
| HP:0000493 | Abnormal foveal morphology |
| HP:0000662 | Nyctalopia |
| HP:0007722 | Retinal pigment epithelial atrophy |
