Retinitis pigmentosa 14

Preferred Label : Retinitis pigmentosa 14;

Symbol : RP14;

CISMeF acronym : RP14;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive (6p);

Prefixed ID : #600132;

Details

Origin ID

600132;

UMLS CUI

C1838603;

Broader ORDO disease(s)
- Retinitis pigmentosa [ORDO Disease]
Currated CISMeF NLP mapping
- retinitis pigmentosa 14 [DO Concept]
- retinitis pigmentosa 14 [Disease (Nov.)]
- retinitis pigmentosa 14 [MeSH concept]
- retinitis pigmentosa 14 [MeSH Supplementary Concept]
DO Cross reference
- retinitis pigmentosa 14 [DO Concept]
Genes related to phenotype
- Tub-like protein 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Constriction of peripheral visual field [HPO term]
- Nyctalopia [HPO term]
- Nystagmus [HPO term]
- Optic disc pallor [HPO term]
- Posterior subcapsular cataract [HPO term]
- Reduced visual acuity [HPO term]
- Retinal arteriolar constriction [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 14 [MeSH Supplementary Concept]
- retinitis pigmentosa 14 [MeSH concept]
- retinitis pigmentosa 14 [DO Concept]
- retinitis pigmentosa 14 [Disease (Nov.)]

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