Cone-rod dystrophy 15

Preferred Label : Cone-rod dystrophy 15;

Symbol : CORD15;

CISMeF acronym : CORD15; RP65;

Type : Phenotype, molecular basis known;

Included titles and symbols : Retinitis pigmentosa 65; RP65; MCDR5; Macular dystrophy, retinal, 5;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cadherin-related family, member 1 gene (CDHR1, 609502.0001);

Prefixed ID : #613660;

Détails

Origin ID

613660;

UMLS CUI

C3150912;

Currated CISMeF NLP mapping
- cone-rod dystrophy 15 [DO Concept]
DO Cross reference
- cone-rod dystrophy 15 [DO Concept]
Genes related to phenotype
- Cadherin-related family, member 1 [OMIM gene]
HPO term(s)
- Attenuation of retinal blood vessels [HPO term]
- Autosomal recessive inheritance [HPO term]
- Color vision defect [HPO term]
- Constriction of peripheral visual field [HPO term]
- Nyctalopia [HPO term]
- Photophobia [HPO term]
- Progressive visual loss [HPO term]
- Retinal pigment epithelial atrophy [HPO term]
- Rod-cone dystrophy [HPO term]
ORDO concept(s)
- Cone rod dystrophy [ORDO Disease]
- Retinitis pigmentosa [ORDO Disease]
See also inter- (CISMeF)
- cadherin related family member 1 [ORDO Gene]
- cadherin related family member 1 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cone-rod dystrophy 15 [DO Concept]
Validated automatic mappings to NTBT
- Cone rod dystrophy [ORDO Disease]

Position du mot-clé dans l'(les) arborescence(s) :

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