ZFIN Human Disease: severe congenital neutropenia 3

OBO ID: DOID:0112133

Term Name:	severe congenital neutropenia 3		Search Ontology:
Synonyms:	infantile agranulocytosis Kostmann disease Kostmann syndrome SCN3
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. (2)
References:	GARD:302 OMIM:610738 ORDO:99749
Ontology:	Human Disease ( DOID:0112133 )

Relationships

is a type of:	autosomal recessive disease severe congenital neutropenia autosomal recessive disease severe congenital neutropenia Show first 5 Terms

OTHER severe congenital neutropenia 3 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
HAX1	hax1	Neutropenia, severe congenital 3, autosomal recessive	610738

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None