FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term severe congenital neutropenia 7 ID (Ontology) DOID:0112129 (Human Disease)
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.
Also Known As "autosomal recessive severe congenital neutropenia due to CSF3R deficiency" ; "SCN7"
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autosomal genetic disease
 |__autosomal recessive disease____
physical disorder                  |
 |__severe congenital neutropenia__|
neutropenia                        |
 |__severe congenital neutropenia__|
                                   severe congenital neutropenia 7
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Is a severe congenital neutropenia
autosomal recessive disease
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Synonyms
  • "autosomal recessive severe congenital neutropenia due to CSF3R deficiency" EXACT
    "SCN7" EXACT OMO:0003012
Secondary IDs
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MIM:617014
ORDO:420702