Retinitis pigmentosa 40

Preferred Label : Retinitis pigmentosa 40;

Symbol : RP40;

CISMeF acronym : RP40;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the retinal rod photoreceptor cGMP phosphodiesterase, beta subunit gene (PDE6B, 180072.0001);

Prefixed ID : #613801;

Détails

Origin ID

613801;

UMLS CUI

C3151107;

Automatic exact mappings (from CISMeF team)
- phosphodiesterase 6B [ORDO Gene]
- phosphodiesterase 6B [HGNC gene]
Currated CISMeF NLP mapping
- retinitis pigmentosa 40 [DO Concept]
DO Cross reference
- retinitis pigmentosa 40 [DO Concept]
Genes related to phenotype
- Phosphodiesterase 6b [OMIM gene]
HPO term(s)
- Abnormal light- and dark-adapted electroretinogram [HPO term]
- Attenuation of retinal blood vessels [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Cataract [HPO term]
- Childhood onset [HPO term]
- Nyctalopia [HPO term]
- Rod-cone dystrophy [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinitis pigmentosa 40 [DO Concept]

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

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