Retinitis pigmentosa 51

Preferred Label : Retinitis pigmentosa 51;

Symbol : RP51;

CISMeF acronym : RP51;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tetratricopeptide repeat domain-containing protein-8 gene (TTC8, 608132.0005);

Prefixed ID : #613464;

Details

Origin ID

613464;

UMLS CUI

C3150715;

Automatic exact mappings (from CISMeF team)
- tetratricopeptide repeat domain 8 [ORDO Gene]
- tetratricopeptide repeat domain 8 [HGNC gene]
Currated CISMeF NLP mapping
- retinitis pigmentosa 51 [DO Concept]
DO Cross reference
- retinitis pigmentosa 51 [DO Concept]
Genes related to phenotype
- Tetratricopeptide repeat domain-containing protein 8 [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]
- High myopia [HPO term]
- Macular degeneration [HPO term]
- Nyctalopia [HPO term]
- Pallor [HPO term]
- Photophobia [HPO term]
- Reduced visual acuity [HPO term]
- Rod-cone dystrophy [HPO term]
- Visual impairment [HPO term]
Not associated HPO term(s)
- Abnormality of the kidney [HPO term]
- Global developmental delay [HPO term]
- Obesity [HPO term]
- Polydactyly [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinitis pigmentosa 51 [DO Concept]

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