Corneal endothelial dystrophy

Preferred Label : Corneal endothelial dystrophy;

Symbol : CHED;

CISMeF acronym : CHED; CHED2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CHED2; Corneal dystrophy, congenital hereditary endothelial; Congenital hereditary endothelial dystrophy of cornea; Corneal endothelial dystrophy 2, autosomal recessive;

Description : Corneal endothelial dystrophy is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. There are both autosomal dominant (CHED1; 121700) and autosomal recessive (CHED2) forms, with the latter being more common and more severe (summary by Vithana et al., 2006).;

Inheritance : Autosomal recessive;

Prefixed ID : #217700;

Details

Origin ID

217700;

UMLS CUI

C1857569;

Automatic exact mappings (from CISMeF team)
- Chandler syndrome [DO Concept]
- Congenital hereditary endothelial dystrophy (disorder) [SNOMED CT concept]
- Corneal endothelial dystrophy (disorder) [SNOMED CT concept]
- Endothelial corneal dystrophy [ICD-11 Subcategory]
- Endothelial corneal dystrophy [MedDRA LLT]
- Endothelial corneal dystrophy [ICD-9 code]
- corneal endothelial dystrophy [DO Concept]
- cyclin dependent kinase 13 [HGNC gene]
- endothelial corneal dystrophy [SNOMED Notion]
- ovo like zinc finger 2 [ORDO Gene]
- ovo like zinc finger 2 [HGNC gene]
- symbol withdrawn CHED1 [HGNC gene]
Currated CISMeF NLP mapping
- Congenital hereditary endothelial dystrophy type 2 (disorder) [SNOMED CT concept]
- Congenital hereditary endothelial dystrophy type II [ORDO Disease]
- Corneal endothelial dystrophy type 2 [MeSH concept]
- congenital hereditary endothelial dystrophy of cornea [DO Concept]
- congenital hereditary endothelial dystrophy type II [Disease (Nov.)]
- corneal endothelial dystrophy type 2 [MeSH Supplementary Concept]
DO Cross reference
- congenital hereditary endothelial dystrophy of cornea [DO Concept]
Genes related to phenotype
- Solute carrier family 4 (sodium borate cotransporter), member 11 [OMIM gene]
HPO term(s)
- Abnormal Descemet membrane morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital corneal dystrophy [HPO term]
- Corneal opacity [HPO term]
- Increased corneal thickness [HPO term]
- Opacification of the corneal stroma [HPO term]
ORDO concept(s)
- Congenital hereditary endothelial dystrophy type II [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital hereditary endothelial dystrophy type 2 (disorder) [SNOMED CT concept]
- Congenital hereditary endothelial dystrophy type II [ORDO Disease]
- Corneal endothelial dystrophy type 2 [MeSH concept]
- corneal endothelial dystrophy type 2 [MeSH Supplementary Concept]

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