Retinitis pigmentosa 58

Preferred Label : Retinitis pigmentosa 58;

Symbol : RP58;

CISMeF acronym : RP58;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the zinc finger protein 513 gene (ZNF513, 613598.0001);

Prefixed ID : #613617;

Details

Origin ID

613617;

UMLS CUI

C3150879;

Automatic exact mappings (from CISMeF team)
- zinc finger and BTB domain containing 18 [ORDO Gene]
- zinc finger and BTB domain containing 18 [HGNC gene]
- zinc finger protein 513 [ORDO Gene]
- zinc finger protein 513 [HGNC gene]
Currated CISMeF NLP mapping
- retinitis pigmentosa 58 [DO Concept]
DO Cross reference
- retinitis pigmentosa 58 [DO Concept]
Genes related to phenotype
- Zinc finger protein 513 [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]
- Nyctalopia [HPO term]
- Optic disc pallor [HPO term]
- Peripheral visual field loss [HPO term]
- Rod-cone dystrophy [HPO term]
- Severely reduced visual acuity [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinitis pigmentosa 58 [DO Concept]

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