cone-rod dystrophy 6
cone-rod dystrophy that has material basis in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1
Facts
4 properties- Instance of
- rare disease, class of disease[2]
- Subclass of
- cone-rod dystrophy[3]
- On focus list of Wikimedia project
- WikiProject Medicine[5]
🏷️ Also known as
en cone-rod dystrophy 6
en CONE-ROD DYSTROPHY 6; CORD6
en cone-rod dystrophy type 6
en CORD6
en RCD2
en retinal cone dystrophy 2
🔖 Identifiers · 8
- Disease Ontology ID
- DOID:0111011
- Exact match
- purl.obolibrary.org, identifiers.org
- GARD rare disease ID
- 10656
- MeSH descriptor ID
- C538363
- Mondo ID
- MONDO_0011143
- OMIM ID
- 601777
- UMLS CUI
- C1866293
- UniProt disease ID
- DI-00321
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Summary
cone-rod dystrophy 6 is a rare disease[1].