ZFIN Human Disease: X-linked severe congenital neutropenia

OBO ID: DOID:0112128

Term Name:	X-linked severe congenital neutropenia		Search Ontology:
Synonyms:	SCNX XLN
Definition:	A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23. https://pubmed.ncbi.nlm.nih.gov/11242115/
References:	GARD:3981 MESH:C564539 NCI:C176818 OMIM:300299 ORDO:86788 SNOMEDCT_US_2023_03_01:718882006 UMLS_CUI:C1845987
Ontology:	Human Disease ( DOID:0112128 )

Relationships

is a type of:	severe congenital neutropenia X-linked recessive disease severe congenital neutropenia X-linked recessive disease Show first 5 Terms

OTHER X-linked severe congenital neutropenia PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
WAS	wasa wasb	Neutropenia, severe congenital, X-linked	300299

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None