autosomal dominant dyskeratosis congenita 2

Summary
Synonym
  • DKCA2
Definition
A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33.
Super Class
autosomal dominant disease dyskeratosis congenita
Disease Ontology
DOID:0070016
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7015 TERT telomerase reverse transcriptase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024