About: X-linked severe congenital neutropenia

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	severe congenital neutropenia X-linked recessive disease nodeID://b50946135 nodeID://b50946136
label	X-linked severe congenital neutropenia
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0112128
database_cross_reference	GARD:3981 MESH:C564539 NCI:C176818 OMIM:300299 ORDO:86788 SNOMEDCT_US_2021_09_01:718882006 UMLS_CUI:C1845987
has_exact_synonym	SCNX XLN
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50946137

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