Granular Corneal Dystrophy

Preferred Label : Granular Corneal Dystrophy;

NCIt definition : A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene.;

Details

Origin ID

C34651;

UMLS CUI

C0018179;

Automatic exact mappings (from CISMeF team)
- Granular corneal dystrophy [ICD-11 More detail]
- Granular corneal dystrophy [ICD-9 code]
- corneal dystrophies, hereditary [MeSH Descriptor]
Currated CISMeF NLP mapping
- Granular corneal dystrophy [PASCAL descriptor]
- Granular corneal dystrophy [HPO term]
- Granular corneal dystrophy [MedDRA LLT]
- Granular corneal dystrophy (disorder) [SNOMED CT concept]
- granular corneal dystrophy [DO Concept]
- granular corneal dystrophy [Disease (Nov.)]
- granular corneal dystrophy [SNOMED Notion]
- granular dystrophy, corneal [MeSH concept]
- groenouw type I corneal dystrophy [MeSH Supplementary Concept]
DO Cross reference
- granular corneal dystrophy [DO Concept]
Has associated anatomic sites
- Cornea [NCIt concept]
- Eye [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Granular corneal dystrophy [MedDRA LLT]
- Granular corneal dystrophy [HPO term]
- Granular corneal dystrophy [ICD-9 code]
- Granular corneal dystrophy (disorder) [SNOMED CT concept]
- granular corneal dystrophy [DO Concept]
- granular corneal dystrophy [SNOMED Notion]
- granular dystrophy, corneal [MeSH concept]
Validated automatic mappings to BTNT
- corneal granular dystrophy type I [Disease (Nov.)]
disease_has_associated_gene
- TGFB1 Gene [NCIt concept]
- TGFB1 wt Allele [NCIt concept]
disease_mapped_to_gene
- TGFBI Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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