TERT Deficiency

Preferred Label : TERT Deficiency;

NCIt definition : A condition of decreased or absent presence of telomerase reverse transcriptase. Deficiency of this protein is associated with autosomal dominant dyskeratosis congenital 2, autosomal recessive dyskeratosis congenita 4, telomere-related pulmonary fibrosis, and bone marrow failure 1.;

NCI Metathesaurus CUI : CL504864;

Details

Origin ID

C126291;

UMLS CUI

C4288141;

See also inter- (CISMeF)
- Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
disease_mapped_to_gene
- TERT Gene [NCIt concept]
related_to_genetic_biomarker
- TERT Gene [NCIt concept]

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