Cone-rod dystrophy, X-linked, 2

Preferred Label : Cone-rod dystrophy, X-linked, 2;

Symbol : CORDX2;

CISMeF acronym : COD2; CORDX2;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : COD2; Cone dystrophy 2, X-linked;

Description : For a phenotypic description and a discussion of genetic heterogeneity of X-linked cone-rod dystrophy, see 304020.;

Inheritance : X-Linked;

Prefixed ID : %300085;

Details

Origin ID

300085;

UMLS CUI

C1848139;

Automatic exact mappings (from CISMeF team)
- component of oligomeric golgi complex 6 [ORDO Gene]
Currated CISMeF NLP mapping
- Cone-Rod dystrophy, X-Linked, 2 [MeSH concept]
- Cone-Rod dystrophy, X-Linked, 2 [MeSH Supplementary Concept]
- X-linked cone-rod dystrophy 2 [DO Concept]
- cone dystrophy x linked 2 [Disease (Nov.)]
DO Cross reference
- X-linked cone-rod dystrophy 2 [DO Concept]
HPO term(s)
- Cone dystrophy [HPO term]
- Cone/cone-rod dystrophy [HPO term]
- Progressive cone dystrophy [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Progressive cone dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cone-Rod dystrophy, X-Linked, 2 [MeSH Supplementary Concept]
- Cone-Rod dystrophy, X-Linked, 2 [MeSH concept]
- X-linked cone-rod dystrophy 2 [DO Concept]
- cone dystrophy x linked 2 [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients