Corneal dystrophy, congenital stromal

Preferred Label : Corneal dystrophy, congenital stromal;

Symbol : CSCD;

CISMeF acronym : CSCD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Congenital stromal corneal dystrophy;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the decorin gene (DCN, 125255.0001);

Prefixed ID : #610048;

Details

Origin ID

610048;

UMLS CUI

C1864738;

Automatic exact mappings (from CISMeF team)
- Congenital stromal corneal dystrophy [ICD-11 More detail]
- DCN wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Congenital corneal dystrophy [MedDRA LLT]
- Congenital corneal dystrophy [HPO term]
- Congenital stromal corneal dystrophy [ORDO Disease]
- Congenital stromal corneal dystrophy (disorder) [SNOMED CT concept]
- congenital corneal dystrophy [Disease (Nov.)]
- congenital stromal corneal dystrophy [DO Concept]
- corneal dystrophy, congenital stromal [MeSH concept]
- corneal dystrophy, congenital stromal [MeSH Supplementary Concept]
DO Cross reference
- congenital stromal corneal dystrophy [DO Concept]
Genes related to phenotype
- Decorin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congenital corneal dystrophy [HPO term]
- Glaucoma [HPO term]
- Increased corneal thickness [HPO term]
- Progressive visual loss [HPO term]
- Strabismus [HPO term]
Not associated HPO term(s)
- Corneal erosion [HPO term]
- Photophobia [HPO term]
ORDO concept(s)
- Congenital stromal corneal dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital stromal corneal dystrophy [ORDO Disease]
- Congenital stromal corneal dystrophy (disorder) [SNOMED CT concept]
- corneal dystrophy, congenital stromal [MeSH Supplementary Concept]
- corneal dystrophy, congenital stromal [MeSH concept]

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