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Standards Ontologies Notations
Guidelines
MIRAGE
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
Disease Ontology
DOID:0050590
Mondo Disease Ontology
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
1441 CSF3R colony stimulating factor 3 receptor
1991 ELANE elastase, neutrophil expressed
Related Glycoprotein
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: April 7, 2025