familial hemophagocytic lymphohistiocytosis 1

Summary
Synonym
  • FHL1
  • HLH1
  • HPLH1
Definition
A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the HPLH1 gene on chromosome 9q21.3-q22.
Super Class
autosomal recessive disease hemophagocytic lymphohistiocytosis
External Links
Disease Ontology
DOID:0110921
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23583 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 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: August 19, 2024