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Disease Ontology Browser
severe congenital neutropenia 7 (DOID:0112129)
Alliance: disease page
Synonyms: 'autosomal recessive severe congenital neutropenia due to CSF3R deficiency'; 'SCN7'
Alt IDs: OMIM:617014, ORDO:420702
Definition: A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in CSF3R on chromosome 1p34.3.

Contributing Projects:
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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MGI 6.20
The Jackson Laboratory