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Disease Ontology Browser
severe congenital neutropenia 4 (DOID:0112136)
Alliance: disease page
Synonyms: autosomal recessive severe congenital neutropenia due to G6PC3 deficiency; Dursun syndrome; SCN4; severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
Alt IDs: OMIM:612541, ORDO:331176
Definition: A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory