Dyskeratosis Congenita, Autosomal Recessive 3

Preferred Label : Dyskeratosis Congenita, Autosomal Recessive 3;

NCIt synonyms : DKCB3;

NCIt definition : Dyskeratosis congenita caused by autosomal recessive mutation(s) in the WRAP53 gene, encoding telomerase Cajal body protein 1.;

Details

Origin ID

C176927;

UMLS CUI

C3151442;

Currated CISMeF NLP mapping
- Dyskeratosis congenita, autosomal recessive 3 [OMIM Phenotype]
- autosomal recessive 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 recessive 3 [OMIM Phenotype]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
disease_mapped_to_gene
- WRAP53 Gene [NCIt concept]
related_to_genetic_biomarker
- WRAP53 Gene [NCIt concept]

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