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Human Disease
severe congenital neutropenia 7
- Term ID
- DOID:0112129
- Synonyms
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- autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- SCN7
- 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. (2)
- References
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- MIM:617014
- ORDO:420702
- Ontology
- Human Disease ( DOID:0112129 )
- is a type of
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Zebrafish Models