ZFIN Human Disease: severe congenital neutropenia 4

OBO ID: DOID:0112136

Term Name:	severe congenital neutropenia 4		Search Ontology:
Synonyms:	autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Dursun syndrome SCN4 severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
Definition:	A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31. https://pubmed.ncbi.nlm.nih.gov/19118303/
References:	OMIM:612541 ORDO:331176
Ontology:	Human Disease ( DOID:0112136 )

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 4 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
G6PC3	g6pc3	Dursun syndrome	612541
		Neutropenia, severe congenital 4, autosomal recessive	612541

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None