cone-rod dystrophy 3
cone-rod dystrophy that has material basis in homozygous or compound heterozygous mutation in the ABCA4 on chromosome 1p22
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 3
en CONE-ROD DYSTROPHY 3; CORD3
en cone-rod dystrophy type 3
en CORD3
🔖 Identifiers · 8
- Disease Ontology ID
- DOID:0111013
- Exact match
- purl.obolibrary.org, identifiers.org
- GARD rare disease ID
- 10653
- MeSH descriptor ID
- C565827
- Mondo ID
- MONDO_0011395
- OMIM ID
- 604116
- UMLS CUI
- C1858806
- UniProt disease ID
- DI-00319
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Summary
cone-rod dystrophy 3 is a rare disease[1].