Retinitis pigmentosa 25

Preferred Label : Retinitis pigmentosa 25;

Symbol : RP25;

CISMeF acronym : RP25;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the Drosophila eyes shut gene (EYS, 612424.0001);

Prefixed ID : #602772;

Details

Origin ID

602772;

UMLS CUI

C1864446;

Broader ORDO disease(s)
- Retinitis pigmentosa [ORDO Disease]
Currated CISMeF NLP mapping
- retinitis pigmentosa 25 [DO Concept]
- retinitis pigmentosa 25 [MeSH concept]
- retinitis pigmentosa 25 [MeSH Supplementary Concept]
DO Cross reference
- retinitis pigmentosa 25 [DO Concept]
Genes related to phenotype
- Eyes shut homolog [OMIM gene]
HPO term(s)
- Attenuation of retinal blood vessels [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Chorioretinal atrophy [HPO term]
- Constriction of peripheral visual field [HPO term]
- Nyctalopia [HPO term]
- Optic disc pallor [HPO term]
- Photophobia [HPO term]
- Posterior subcapsular cataract [HPO term]
- Rod-cone dystrophy [HPO term]
- Undetectable electroretinogram [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinitis pigmentosa 25 [MeSH Supplementary Concept]
- retinitis pigmentosa 25 [MeSH concept]
- retinitis pigmentosa 25 [DO Concept]

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