Enhanced s-cone syndrome

Preferred Label : Enhanced s-cone syndrome;

Symbol : ESCS;

CISMeF acronym : ESCS;

Type : Phenotype, molecular basis known;

Included titles and symbols : Goldmann-favre syndrome; Retinoschisis with early hemeralopia; Favre hyaloideoretinal degeneration;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the nuclear receptor subfamily 2, group E, member 3 gene (NR2E3, 604485.0001);

Prefixed ID : #268100;

Details

Origin ID

268100;

UMLS CUI

C1849394;

Automatic exact mappings (from CISMeF team)
- Goldmann-Favre syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Goldmann-Favre syndrome [ORDO Disease]
- Goldmann-Favre syndrome [MeSH concept]
- Goldmann-Favre syndrome (disorder) [SNOMED CT concept]
- enhanced S-Cone syndrome [MeSH concept]
- enhanced S-Cone syndrome [MeSH Supplementary Concept]
- enhanced S-cone syndrome [DO Concept]
DO Cross reference
- enhanced S-cone syndrome [DO Concept]
Genes related to phenotype
- Nuclear receptor subfamily 2, group e, member 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Edema [HPO term]
- Hemeralopia [HPO term]
- Macular edema [HPO term]
- Nyctalopia [HPO term]
- Pigmentary retinopathy [HPO term]
- Retinoschisis [HPO term]
- Undetectable electroretinogram [HPO term]
- Vitreoretinopathy [HPO term]
ORDO concept(s)
- Goldmann-Favre syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- enhanced S-Cone syndrome [MeSH Supplementary Concept]
- enhanced S-Cone syndrome [MeSH concept]
- enhanced S-cone syndrome [DO Concept]

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