TERC Deficiency

Preferred Label : TERC Deficiency;

NCIt definition : A condition of decreased or absent presence of telomerase RNA component. Deficiency of telomerase RNA component is associated with autosomal dominant dyskeratosis congenita 1, telomere-related pulmonary fibrosis, and bone marrow failure 2.;

NCI Metathesaurus CUI : CL504863;

Details

Origin ID

C126290;

UMLS CUI

C4288142;

Currated CISMeF NLP mapping
- Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
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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