Cone-rod dystrophy 5

Preferred Label : Cone-rod dystrophy 5;

Symbol : CORD5;

CISMeF acronym : CORD5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant.;

Prefixed ID : #600977;

Details

Origin ID

600977;

UMLS CUI

C1832976;

Broader ORDO disease(s)
- Cone rod dystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- Cone-Rod dystrophy 5 [MeSH concept]
- Cone-Rod dystrophy 5 [MeSH Supplementary Concept]
- cone-rod dystrophy 5 [DO Concept]
DO Cross reference
- cone-rod dystrophy 5 [DO Concept]
Genes related to phenotype
- Phosphatidylinositol transfer protein, membrane-associated, 3 [OMIM gene]
HPO term(s)
- Macular degeneration [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 5 [MeSH Supplementary Concept]
- Cone-Rod dystrophy 5 [MeSH concept]
- cone-rod dystrophy 5 [DO Concept]
Validated automatic mappings to NTBT
- Cone rod dystrophy [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients