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Standards Ontologies Notations
X-linked dyskeratosis congenita

Summary
Synonym
  • DKCX
  • Zinsser-Cole-Engman syndrome
Definition
A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28.
Super Class
X-linked recessive disease dyskeratosis congenita
Disease Ontology
DOID:0070025
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1736 DKC1 dyskerin pseudouridine synthase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
245474 Dkc1 dyskeratosis congenita 1, dyskerin
Displaying 1 entry
Gene ID Gene Symbol Description Source
170944 Dkc1 dyskerin pseudouridine synthase 1
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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