Corneal dystrophy, fuchs endothelial, 3

Preferred Label : Corneal dystrophy, fuchs endothelial, 3;

Symbol : FECD3;

CISMeF acronym : FECD3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fcd2 locus; Corneal dystrophy, fuchs endothelial, late-onset;

Description : For a phenotypic description and a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by a trinucleotide repeat expansion (CTG)n in the transcription factor-4 gene (TCF4, 602272.0007);

Prefixed ID : #613267;

Details

Origin ID

613267;

UMLS CUI

C2750451;

Currated CISMeF NLP mapping
- corneal dystrophy, fuchs endothelial, 3 [MeSH concept]
- corneal dystrophy, fuchs endothelial, 3 [MeSH Supplementary Concept]
DO Cross reference
- Fuchs' endothelial dystrophy [DO Concept]
Genes related to phenotype
- Transcription factor 4 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Edema [HPO term]
ORDO concept(s)
- Fuchs endothelial corneal dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- corneal dystrophy, fuchs endothelial, 3 [MeSH Supplementary Concept]
- corneal dystrophy, fuchs endothelial, 3 [MeSH concept]
Validated automatic mappings to NTBT
- Fuchs endothelial corneal dystrophy [ORDO Disease]
- Fuchs' endothelial dystrophy [DO Concept]

Keyword's position in hierarchy(ies) :

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