ZFIN Human Disease: severe congenital neutropenia 7

OBO ID: DOID:0112129

Term Name:	severe congenital neutropenia 7		Search Ontology:
Synonyms:	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:	OMIM:617014 ORDO:420702
Ontology:	Human Disease ( DOID:0112129 )

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 7 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CSF3R	csf3r	Neutropenia, severe congenital, 7, autosomal recessive	617014

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None