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DO Term : severe congenital neutropenia 7 [DOID:0112129] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • SCN7,
  • ORDO:420702,
  • autosomal recessive severe congenital neutropenia due to CSF3R deficiency,
  • OMIM:617014,
  • 617014
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Ontology Term --> Direct children

Ontology Term --> Direct parents