Dyskeratosis Congenita, Autosomal Dominant 3

Preferred Label : Dyskeratosis Congenita, Autosomal Dominant 3;

NCIt synonyms : DKCA3;

NCIt definition : Dyskeratosis congenita caused by autosomal dominant mutation(s) in the TINF2 gene, encoding TERF1-interacting nuclear factor 2. Mutations in TINF2 may also lead to another phenotype known as Revesz syndrome (Dyskeratosis Congenita, Autosomal Dominant 5).;

Details

Origin ID

C176923;

UMLS CUI

C3151445;

Currated CISMeF NLP mapping
- Dyskeratosis congenita, autosomal dominant 3 [OMIM Phenotype]
- autosomal dominant dyskeratosis congenita 3 [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 3 [OMIM Phenotype]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
disease_mapped_to_gene
- TINF2 Gene [NCIt concept]
related_to_genetic_biomarker
- TINF2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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