Retinitis pigmentosa 68

Preferred Label : Retinitis pigmentosa 68;

Symbol : RP68;

CISMeF acronym : RP68;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 7, member 14 gene (SLC7A14, 615720.0001);

Prefixed ID : #615725;

Details

Origin ID

615725;

UMLS CUI

C3810380;

CISMeF manual mappings
- retinitis pigmentosa 68 [DO Concept]
DO Cross reference
- retinitis pigmentosa 68 [DO Concept]
Genes related to phenotype
- Solute carrier family 7, member 14 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Nyctalopia [HPO term]
- Retinal atrophy [HPO term]
- Rod-cone dystrophy [HPO term]
- Visual field defect [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinitis pigmentosa 68 [DO Concept]

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