Retinitis pigmentosa 39

Preferred Label : Retinitis pigmentosa 39;

Symbol : RP39;

CISMeF acronym : RP39;

Type : Phenotype, molecular basis known;

Prefixed ID : #613809;

Détails

Origin ID

613809;

UMLS CUI

C3151138;

Automatic exact mappings (from CISMeF team)
- usherin [ORDO Gene]
- usherin [HGNC gene]
Currated CISMeF NLP mapping
- retinitis pigmentosa 39 [DO Concept]
DO Cross reference
- retinitis pigmentosa 39 [DO Concept]
Genes related to phenotype
- Usherin [OMIM gene]
HPO term(s)
- Abnormal electroretinogram [HPO term]
- Attenuation of retinal blood vessels [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Rod-cone dystrophy [HPO term]
- Visual field defect [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinitis pigmentosa 39 [DO Concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients