severe congenital neutropenia

Summary
Definition
A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.
Super Class
neutropenia physical disorder
External Links
Disease Ontology
DOID:0050590
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 51 - 56 of 56 in total
Gene ID Gene Symbol Description Source
56994 CHPT1 choline phosphotransferase 1
57126 CD177 CD177 molecule
79947 DHDDS dehydrodolichyl diphosphate synthase subunit
83666 PARP9 poly(ADP-ribose) polymerase family member 9
92579 G6PC3 glucose-6-phosphatase catalytic subunit 3
160418 TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
850633 HSP104 chaperone ATPase HSP104

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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