Retinal cone dystrophy 1

Preferred Label : Retinal cone dystrophy 1;

Symbol : RCD1;

CISMeF acronym : RCD1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Retinal cone degeneration; Cone dystrophy, autosomal dominant;

Inheritance : Autosomal dominant (?6q25-q26);

Prefixed ID : %180020;

Details

Origin ID

180020;

UMLS CUI

C1867326;

Currated CISMeF NLP mapping
- retinal cone dystrophy 1 [MeSH concept]
- retinal cone dystrophy 1 [MeSH Supplementary Concept]
DO Cross reference
- cone dystrophy [DO Concept]
HPO term(s)
- Abnormal electroretinogram [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bull's eye maculopathy [HPO term]
- Color vision defect [HPO term]
- Cone/cone-rod dystrophy [HPO term]
- Photophobia [HPO term]
- Progressive visual loss [HPO term]
- Retinal degeneration [HPO term]
ORDO concept(s)
- Progressive cone dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinal cone dystrophy 1 [MeSH Supplementary Concept]
- retinal cone dystrophy 1 [MeSH concept]

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