severe congenital neutropenia

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Summary

Literature (0)

DOID:0050590 - severe congenital neutropenia

Disease Ontology Definition:A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: csf3r, gfi1, vps45, g6pc3, g6pc3.2, was, hax1, jagn1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0018542 - severe congenital neutropenia

MONDO:0018542 - severe congenital neutropenia

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): neutropenia (is_a), physical disorder (is_a)