Cone-rod dystrophy 7

Preferred Label : Cone-rod dystrophy 7;

Symbol : CORD7;

CISMeF acronym : CORD7;

Type : Phenotype or locus, molecular basis unknown;

Prefixed ID : %603649;

Details

Origin ID

603649;

UMLS CUI

C1863634;

Automatic exact mappings (from CISMeF team)
- RIMS1 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Cone rod dystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- Cone-Rod dystrophy 7 [MeSH concept]
- Cone-Rod dystrophy 7 [MeSH Supplementary Concept]
- cone-rod dystrophy 7 [DO Concept]
DO Cross reference
- cone-rod dystrophy 7 [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bull's eye maculopathy [HPO term]
- Color vision defect [HPO term]
- Cone/cone-rod dystrophy [HPO term]
- Macular atrophy [HPO term]
- Visual impairment [HPO term]
Not associated HPO term(s)
- Retinal flecks [HPO term]
ORDO concept(s)
- Cone rod dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cone-Rod dystrophy 7 [MeSH Supplementary Concept]
- Cone-Rod dystrophy 7 [MeSH concept]
- cone-rod dystrophy 7 [DO Concept]
Validated automatic mappings to NTBT
- Cone rod dystrophy [ORDO Disease]

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