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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: Dursun syndrome, SCN4, autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, 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](img/icons/info1.png)
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee