Retinopathy, pericentral pigmentary, autosomal recessive

Preferred Label : Retinopathy, pericentral pigmentary, autosomal recessive;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Retinitis pigmentosa, pericentral;

Inheritance : Autosomal recessive;

Prefixed ID : 268060;

Details

Origin ID

268060;

UMLS CUI

C1849398;

Automatic exact mappings (from CISMeF team)
- Pericentral retinitis pigmentosa [HPO term]
Currated CISMeF NLP mapping
- autosomal recessive pericentral pigmentary retinopathy [DO Concept]
- retinopathy, pericentral pigmentary, autosomal recessive [MeSH concept]
- retinopathy, pericentral pigmentary, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive pericentral pigmentary retinopathy [DO Concept]
HPO term(s)
- Astigmatism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hypermetropia [HPO term]
- Pigmentary retinopathy [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pericentral retinitis pigmentosa [HPO term]
- autosomal recessive pericentral pigmentary retinopathy [DO Concept]
- retinopathy, pericentral pigmentary, autosomal recessive [MeSH Supplementary Concept]
- retinopathy, pericentral pigmentary, autosomal recessive [MeSH concept]

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