Corneal dystrophy, lattice type I

Preferred Label : Corneal dystrophy, lattice type I;

Symbol : CDL1;

CISMeF acronym : CDL1; LCD; LCD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : LCD; Lattice corneal dystrophy, type I; LCD1;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the 68-kD transforming growth factor-beta-induced gene (TGFBI, 601692.0003);

Prefixed ID : #122200;

Détails

Origin ID

122200;

UMLS CUI

C1690006;

Automatic exact mappings (from CISMeF team)
- Cornelia de Lange syndrome 1 [HGNC gene]
- Liver Dysplastic Foci [NCIt concept]
- TGFBI wt Allele [NCIt concept]
- meretoja syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Lattice corneal dystrophy Type I (disorder) [SNOMED CT concept]
- Lattice corneal dystrophy type I [ORDO Disease]
- lattice corneal dystrophy type 1 [MeSH Supplementary Concept]
- lattice corneal dystrophy type I [Disease (Nov.)]
DO Cross reference
- lattice corneal dystrophy [DO Concept]
Genes related to phenotype
- Transforming growth factor, beta-induced, 68-kd [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Lattice corneal dystrophy [HPO term]
- Progressive visual loss [HPO term]
- Recurrent corneal erosions [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)
- Lattice corneal dystrophy Type I (disorder) [SNOMED CT concept]
- Lattice corneal dystrophy type 1 [MeSH concept]
- Lattice corneal dystrophy type I [ORDO Disease]
- lattice corneal dystrophy type 1 [MeSH Supplementary Concept]
- lattice corneal dystrophy type I [Disease (Nov.)]

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