Gelatinous Drop-Like Corneal Dystrophy

Preferred Label : Gelatinous Drop-Like Corneal Dystrophy;

NCIt synonyms : CDGDL;

NCIt definition : An autosomal recessive corneal dystrophy caused by mutation(s) in the TACSTD2 gene, encoding tumor-associated calcium signal transducer 2. It is characterized by severe corneal amyloidosis that may result in blindness.;

Details

Origin ID

C142805;

UMLS CUI

C0339273;

Currated CISMeF NLP mapping
- Corneal dystrophy, gelatinous drop-like [MeSH concept]
- Corneal dystrophy, gelatinous drop-like [OMIM Phenotype]
- Gelatinous drop-like corneal dystrophy [PASCAL descriptor]
- Gelatinous drop-like corneal dystrophy [ORDO Disease]
- Gelatinous drop-like corneal dystrophy [ICD-11 More detail]
- Gelatinous droplike corneal dystrophy (disorder) [SNOMED CT concept]
- corneal dystrophy, gelatinous drop-like [MeSH Supplementary Concept]
- gelatinous drop-like corneal dystrophy [DO Concept]
DO Cross reference
- gelatinous drop-like 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)
- Corneal dystrophy, gelatinous drop-like [OMIM Phenotype]
- Corneal dystrophy, gelatinous drop-like [MeSH concept]
- Gelatinous drop-like corneal dystrophy [ORDO Disease]
- Gelatinous drop-like corneal dystrophy [PASCAL descriptor]
- Gelatinous droplike corneal dystrophy (disorder) [SNOMED CT concept]
- Lattice corneal dystrophy Type III (disorder) [SNOMED CT concept]
- corneal dystrophy, gelatinous drop-like [MeSH Supplementary Concept]
- gelatinous drop-like corneal dystrophy [DO Concept]
- lattice corneal dystrophy type III [Disease (Nov.)]
Validated automatic mappings to BTNT
- Lattice corneal dystrophy Type III (disorder) [SNOMED CT concept]
- lattice corneal dystrophy type III [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- TACSTD2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients