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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:

In OMIM:
OMIM:202700 - NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT; SCN1
OMIM:300299 - NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; SCNX
OMIM:612541 - NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4
OMIM:615285 - NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE; SCN5

In Mondo Disease Ontology:
MONDO:0018542 - severe congenital neutropenia

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : gfi1, vps45, g6pc3.1, g6pc3.2, was, jagn1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): neutropenia (is_a)