Dyskeratosis Congenita, Autosomal Recessive 1

Preferred Label : Dyskeratosis Congenita, Autosomal Recessive 1;

NCIt synonyms : DKCB1;

NCIt definition : Dyskeratosis congenita caused by autosomal recessive mutation(s) in the NOP10 gene, encoding H/ACA ribonucleoprotein complex subunit 3.;

Details

Origin ID

C176925;

UMLS CUI

C1857144;

Currated CISMeF NLP mapping
- Dyskeratosis congenita, autosomal recessive 1 [OMIM Phenotype]
- autosomal recessive 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 recessive 1 [OMIM Phenotype]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
disease_mapped_to_gene
- NOP10 Gene [NCIt concept]
related_to_genetic_biomarker
- NOP10 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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