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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 the CSF3R gene 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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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory