Cone-rod dystrophy 12

Preferred Label : Cone-rod dystrophy 12;

Symbol : CORD12;

CISMeF acronym : CORD12;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive; Autosomal dominant (in one family);

Molecular basis : Caused by mutation in the prominin 1 gene (PROM1, 604365.0003);

Prefixed ID : #612657;

Details

Origin ID

612657;

UMLS CUI

C2675210;

Broader ORDO disease(s)
- Cone rod dystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- Cone-Rod dystrophy 12 [MeSH concept]
- Cone-Rod dystrophy 12 [MeSH Supplementary Concept]
- cone-rod dystrophy 12 [DO Concept]
DO Cross reference
- cone-rod dystrophy 12 [DO Concept]
Genes related to phenotype
- Prominin 1 [OMIM gene]
HPO term(s)
- Abnormal light- and dark-adapted electroretinogram [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bull's eye maculopathy [HPO term]
- Central scotoma [HPO term]
- Color vision defect [HPO term]
- Cone/cone-rod dystrophy [HPO term]
- Nyctalopia [HPO term]
- Reduced visual acuity [HPO term]
ORDO concept(s)
- Cone rod dystrophy [ORDO Disease]
See also inter- (CISMeF)
- prominin 1 [ORDO Gene]
- prominin 1 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cone-Rod dystrophy 12 [MeSH Supplementary Concept]
- Cone-Rod dystrophy 12 [MeSH concept]
- cone-rod dystrophy 12 [DO Concept]
Validated automatic mappings to NTBT
- Cone rod dystrophy [ORDO Disease]

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