Epithelial recurrent erosion dystrophy

Preferred Label : Epithelial recurrent erosion dystrophy;

Symbol : ERED;

CISMeF acronym : ERED;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Corneal erosions, recurring hereditary;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha-1 type XVII collagen gene (COL17A1, 113811.0015);

Prefixed ID : #122400;

Details

Origin ID

122400;

UMLS CUI

C1852551;

Automatic exact mappings (from CISMeF team)
- COL17A1 wt Allele [NCIt concept]
- Epithelial recurrent erosion dystrophy [ICD-11 More detail]
- epithelial recurrent erosion dystrophy [DO Concept]
Currated CISMeF NLP mapping
- Epithelial recurrent erosion dystrophy [ORDO Disease]
- Epithelial recurrent erosion dystrophy of cornea (disorder) [SNOMED CT concept]
- epithelial recurrent erosion dystrophy [MeSH concept]
- epithelial recurrent erosion dystrophy [MeSH Supplementary Concept]
DO Cross reference
- epithelial recurrent erosion dystrophy [DO Concept]
False automatic mappings
- Eritrea [NCIt concept]
Genes related to phenotype
- Collagen, type XVII, alpha-1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Corneal erosion [HPO term]
- Epiphora [HPO term]
- Pain [HPO term]
- Photophobia [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Epithelial recurrent erosion dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epithelial recurrent erosion dystrophy [ORDO Disease]
- Epithelial recurrent erosion dystrophy of cornea (disorder) [SNOMED CT concept]
- epithelial recurrent erosion dystrophy [MeSH Supplementary Concept]
- epithelial recurrent erosion dystrophy [MeSH concept]

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