Corneal dystrophy, lattice type iiia

Preferred Label : Corneal dystrophy, lattice type iiia;

Symbol : CDL3A;

CISMeF acronym : CDL3A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lattice corneal dystrophy, type iiia;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transforming growth factor, beta-induced, 68kD gene (TGFBI, 601692.0005);

Prefixed ID : #608471;

Details

Origin ID

608471;

UMLS CUI

C1837974;

Currated CISMeF NLP mapping
- corneal dystrophy, lattice type IIIA [MeSH concept]
- corneal dystrophy, lattice type IIIA [MeSH Supplementary Concept]
Genes related to phenotype
- Transforming growth factor, beta-induced, 68-kd [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Corneal erosion [HPO term]
- Lattice corneal dystrophy [HPO term]
- Reduced visual acuity [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Lattice corneal dystrophy type I [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- corneal dystrophy, lattice type IIIA [MeSH Supplementary Concept]
- corneal dystrophy, lattice type IIIA [MeSH concept]

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