Cone-Rod Dystrophy 2

Preferred Label : Cone-Rod Dystrophy 2;

NCIt synonyms : CRD2; CORD2;

NCIt definition : An inherited condition caused by mutations in the CRX gene, encoding cone-rod homeobox protein. It is characterized by loss of visual acuity in early childhood or late adolescence, impaired color vision, loss of peripheral vision, and nyctalopia. The severity of symptoms may vary.;

Détails

Origin ID

C162399;

UMLS CUI

C3489532;

Automatic exact mappings (from CISMeF team)
- retinitis pigmentosa [MeSH Descriptor]
Currated CISMeF NLP mapping
- Cone-Rod dystrophy 2 [MeSH concept]
- Cone-rod dystrophy 2 [OMIM Phenotype]
- cone-rod dystrophy 2 [DO Concept]
Has associated anatomic sites
- Eye [NCIt concept]
- Retina [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cone-Rod dystrophy 2 [MeSH concept]
- Cone-rod dystrophy 2 [OMIM Phenotype]
- cone-rod dystrophy 2 [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Eye [NCIt concept]
- Retina [NCIt concept]
disease_mapped_to_gene
- CRX Gene [NCIt concept]

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

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