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:

Echinobase Genes : vps45


OMIM:

MIM:202700 - neutropenia, severe congenital, 1, autosomal dominant; scn1

MIM:300299 - neutropenia, severe congenital, x-linked; scnx

MIM:612541 - neutropenia, severe congenital, 4, autosomal recessive; scn4 dursun syndrome, included;; pulmonary arterial hypertension, leukopenia, and atrial septal defect, included

MIM:615285 - neutropenia, severe congenital, 5, autosomal recessive; scn5

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

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