Dyskeratosis Congenita, Autosomal Dominant 2

Preferred Label : Dyskeratosis Congenita, Autosomal Dominant 2;

NCIt synonyms : DKCA2; Dyskeratosis Congenita, Autosomal Recessive 4; DKCB4;

NCIt definition : Dyskeratosis congenita caused by mutation(s) in the TERT gene, encoding telomerase reverse transcriptase.;

Details

Origin ID

C176922;

UMLS CUI

C3151443;

Automatic exact mappings (from CISMeF team)
- autosomal recessive dyskeratosis congenita 4 [DO Concept]
Currated CISMeF NLP mapping
- Dyskeratosis congenita, autosomal dominant 2 [OMIM Phenotype]
- autosomal dominant dyskeratosis congenita 2 [DO Concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dyskeratosis congenita, autosomal dominant 2 [OMIM Phenotype]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
disease_mapped_to_gene
- TERT Gene [NCIt concept]
related_to_genetic_biomarker
- TERT Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients