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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 the CSF3R gene on chromosome 1p34.3.

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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