Retinitis pigmentosa 33

Preferred Label : Retinitis pigmentosa 33;

Symbol : RP33;

CISMeF acronym : RP33;

Type : Phenotype, molecular basis known;

Prefixed ID : #610359;

Details

Origin ID

610359;

UMLS CUI

C1835895;

Broader ORDO disease(s)
- Retinitis pigmentosa [ORDO Disease]
Currated CISMeF NLP mapping
- retinitis pigmentosa 33 [DO Concept]
- retinitis pigmentosa 33 [MeSH concept]
- retinitis pigmentosa 33 [MeSH Supplementary Concept]
DO Cross reference
- retinitis pigmentosa 33 [DO Concept]
Genes related to phenotype
- Small nuclear ribonucleoprotein, 200-kd [OMIM gene]
HPO term(s)
- Attenuation of retinal blood vessels [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Nyctalopia [HPO term]
- Optic disc pallor [HPO term]
- Retinal pigment epithelial atrophy [HPO term]
- Rod-cone dystrophy [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 33 [MeSH Supplementary Concept]
- retinitis pigmentosa 33 [MeSH concept]
- retinitis pigmentosa 33 [DO Concept]

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