Corneal dystrophy, groenouw type I

Preferred Label : Corneal dystrophy, groenouw type I;

Symbol : CDGG1;

CISMeF acronym : CDGG1; GCD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Corneal dystrophy, punctate or nodular; Granular corneal dystrophy, type I; GCD1;

Inheritance : Autosomal dominant (5q22-q33.3);

Prefixed ID : #121900;

Details

Origin ID

121900;

UMLS CUI

C1641846;

Automatic exact mappings (from CISMeF team)
- Groenouw type I corneal dystrophy [PASCAL descriptor]
- Groenouw type I corneal dystrophy [MeSH concept]
- Groenouw type II corneal dystrophy [PASCAL descriptor]
- TGFBI wt Allele [NCIt concept]
- corneal dystrophies, hereditary [MeSH Descriptor]
- corneal dystrophy avellino type [MeSH Supplementary Concept]
- granular corneal dystrophy 1 [DO Concept]
- transforming growth factor beta induced [ORDO Gene]
- transforming growth factor beta induced [HGNC gene]
Currated CISMeF NLP mapping
- Granular corneal dystrophy type I [ORDO Disease]
- Granular corneal dystrophy type I (disorder) [SNOMED CT concept]
- corneal granular dystrophy type I [Disease (Nov.)]
- groenouw type I corneal dystrophy [MeSH Supplementary Concept]
DO Cross reference
- granular corneal dystrophy 1 [DO Concept]
Genes related to phenotype
- Transforming growth factor, beta-induced, 68-kd [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Granular corneal dystrophy [HPO term]
- Nodular corneal dystrophy [HPO term]
- Punctate corneal dystrophy [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Granular corneal dystrophy type I [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Granular corneal dystrophy type I [ORDO Disease]
- Granular corneal dystrophy type I (disorder) [SNOMED CT concept]
- Groenouw type I corneal dystrophy [MeSH concept]
- corneal granular dystrophy type I [Disease (Nov.)]
- groenouw type I corneal dystrophy [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients