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DO Term : severe congenital neutropenia 3 [DOID:0112133] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21.3.
  • synonyms:
  • SCN3,
  • Kostmann disease,
  • infantile agranulocytosis,
  • ORDO:99749,
  • Kostmann syndrome,
  • 610738,
  • OMIM:610738,
  • GARD:302
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Disease

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents