Dyskeratosis Congenita, Autosomal Recessive 5

Preferred Label : Dyskeratosis Congenita, Autosomal Recessive 5;

NCIt synonyms : Dyskeratosis Congenita, Autosomal Dominant 4; DKCB5; DKCA4;

NCIt definition : Dyskeratosis congenita caused by mutation(s) in the RTEL1 gene, encoding regulator of telomere elongation helicase 1.;

Details

Origin ID

C176928;

UMLS CUI

C3554656;

Automatic exact mappings (from CISMeF team)
- autosomal dominant dyskeratosis congenita 4 [DO Concept]
Currated CISMeF NLP mapping
- Dyskeratosis congenita, autosomal recessive 5 [OMIM Phenotype]
- autosomal recessive dyskeratosis congenita 5 [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 recessive 5 [OMIM Phenotype]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
disease_mapped_to_gene
- RTEL1 Gene [NCIt concept]
related_to_genetic_biomarker
- RTEL1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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