severe congenital neutropenia 4

Summary

DOID:0112136 - severe congenital neutropenia 4

Disease Ontology Definition:A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31.

Synonyms: autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Dursun syndrome, SCN4, severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome

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

: g6pc3, g6pc3.2

MIM:

MIM:612541 - NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4

MIM:612541 - NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4

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

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

Parent(s): autosomal recessive disease (is_a), severe congenital neutropenia (is_a)