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Echinobase
Summary Literature (0)
DOID:0112133 - severe congenital neutropenia 3


Disease Ontology Definition: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: Kostmann disease, Kostmann syndrome, SCN3, infantile agranulocytosis,

Echinobase Genes :



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), severe congenital neutropenia (is_a)