ZFIN Human Disease: severe congenital neutropenia 6

OBO ID: DOID:0112134

Term Name:	severe congenital neutropenia 6		Search Ontology:
Synonyms:	autosomal recessive severe congenital neutropenia due to JAGN1 deficiency SCN6
Definition:	A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the JAGN1 gene on chromosome 3p25.3. https://pubmed.ncbi.nlm.nih.gov/25129144/
References:	OMIM:616022 ORDO:423384
Ontology:	Human Disease ( DOID:0112134 )

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 6 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
JAGN1	jagn1b jagn1a	Neutropenia, severe congenital, 6, autosomal recessive	616022

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None