severe congenital neutropenia

Summary

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 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

: vps45

MIM:

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

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: 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)