# Stargardt disease

> age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness

**Wikidata**: [Q1317319](https://www.wikidata.org/wiki/Q1317319)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Stargardt_disease)  
**Source**: https://4ort.xyz/entity/stargardt-disease


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. UniProt
5. A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1
6. Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies
7. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000198691/MONDO_0009549)
9. Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases
10. Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice
11. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy
12. [Identifiers.org](https://registry.identifiers.org/registry/doid)
13. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)