Newfoundland rod-cone dystrophy

Preferred Label : Newfoundland rod-cone dystrophy;

Symbol : NFRCD;

CISMeF acronym : NFRCD;

Type : Phenotype, molecular basis known;

Prefixed ID : #607476;

Détails

Origin ID

607476;

UMLS CUI

C1843815;

Currated CISMeF NLP mapping
- Newfoundland cone-rod dystrophy [DO Concept]
- newfoundland Rod-Cone dystrophy [MeSH concept]
- newfoundland Rod-Cone dystrophy [MeSH Supplementary Concept]
DO Cross reference
- Newfoundland cone-rod dystrophy [DO Concept]
Genes related to phenotype
- Retinaldehyde-binding protein 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Color vision defect [HPO term]
- Nyctalopia [HPO term]
- Retinal dystrophy [HPO term]
- Scotoma [HPO term]
- Visual impairment [HPO term]
Not associated HPO term(s)
- Bone spicule pigmentation of the retina [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Newfoundland cone-rod dystrophy [DO Concept]
- newfoundland Rod-Cone dystrophy [MeSH Supplementary Concept]
- newfoundland Rod-Cone dystrophy [MeSH concept]

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

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