Dyskeratosis Congenita, Autosomal Dominant 1

Preferred Label : Dyskeratosis Congenita, Autosomal Dominant 1;

NCIt synonyms : DKCA1; Dyskeratosis Congenita, Scoggins Type;

NCIt definition : Dyskeratosis congenita caused by autosomal dominant mutation(s) in the TERC gene, encoding telomerase RNA component.;

Details

Origin ID

C176921;

UMLS CUI

C4551974;

Currated CISMeF NLP mapping
- Dyskeratosis congenita, autosomal dominant 1 [OMIM Phenotype]
- autosomal dominant dyskeratosis congenita 1 [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 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Autosomal dominant dyskeratosis congenita [ICD-11 More detail]
- Autosomal dominant dyskeratosis congenita (disorder) [SNOMED CT concept]
- dyskeratosis congenita, autosomal dominant [MeSH concept]
- dyskeratosis congenita, autosomal dominant [MeSH Supplementary Concept]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
disease_mapped_to_gene
- TERC Gene [NCIt concept]
related_to_genetic_biomarker
- TERC Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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