Corneal dystrophy, fuchs endothelial, 4

Preferred Label : Corneal dystrophy, fuchs endothelial, 4;

Symbol : FECD4;

CISMeF acronym : FECD4;

Type : Phenotype, molecular basis known;

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

Prefixed ID : #613268;

Details

Origin ID

613268;

UMLS CUI

C2750450;

Currated CISMeF NLP mapping
- corneal dystrophy, fuchs endothelial, 4 [MeSH concept]
- corneal dystrophy, fuchs endothelial, 4 [MeSH Supplementary Concept]
DO Cross reference
- Fuchs' endothelial dystrophy [DO Concept]
Genes related to phenotype
- Solute carrier family 4 (sodium borate cotransporter), member 11 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Corneal dystrophy [HPO term]
- Corneal guttata [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Fuchs endothelial corneal dystrophy [ORDO Disease]
See also inter- (CISMeF)
- Corneal dystrophy, Fuchs' endothelial, 2 [MeSH concept]
- corneal dystrophy, fuchs' endothelial, 2 [MeSH Supplementary Concept]
- solute carrier family 4 member 11 [ORDO Gene]
- solute carrier family 4 member 11 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- corneal dystrophy, fuchs endothelial, 4 [MeSH Supplementary Concept]
- corneal dystrophy, fuchs endothelial, 4 [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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