Retinitis pigmentosa 6

Preferred Label : Retinitis pigmentosa 6;

Symbol : RP6;

CISMeF acronym : RP6;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Retinitis pigmentosa, X-linked recessive, 6;

Description : For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.;

Inheritance : X-linked;

Prefixed ID : %312612;

Details

Origin ID

312612;

UMLS CUI

C1839368;

Broader ORDO disease(s)
- Retinitis pigmentosa [ORDO Disease]
Currated CISMeF NLP mapping
- retinitis pigmentosa 6 [DO Concept]
- retinitis pigmentosa 6 [Disease (Nov.)]
- retinitis pigmentosa 6 [MeSH concept]
- retinitis pigmentosa 6 [MeSH Supplementary Concept]
DO Cross reference
- retinitis pigmentosa 6 [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Chorioretinal degeneration [HPO term]
- Constriction of peripheral visual field [HPO term]
- Immotile cilia [HPO term]
- Nyctalopia [HPO term]
- Pigmentary retinopathy [HPO term]
- Recurrent respiratory infections [HPO term]
- Rod-cone dystrophy [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinitis pigmentosa 6 [MeSH Supplementary Concept]
- retinitis pigmentosa 6 [MeSH concept]
- retinitis pigmentosa 6 [DO Concept]
- retinitis pigmentosa 6 [Disease (Nov.)]

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