cone-rod dystrophy 7
cone-rod dystrophy that has material basis in heterozygous mutation in the RIMS1 gene on chromosome 6q13
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 7
en CONE-ROD DYSTROPHY 7; CORD7
en Cone-Rod Dystrophy type 7
en CORD7
🔖 Identifiers · 7
- Disease Ontology ID
- DOID:0111012
- Exact match
- purl.obolibrary.org, identifiers.org, www.orpha.net
- MeSH descriptor ID
- C566350
- Mondo ID
- MONDO_0011355
- OMIM ID
- 603649
- UMLS CUI
- C1863634
- UniProt disease ID
- DI-00322
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Summary
cone-rod dystrophy 7 is a rare disease[1].