Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

Preferred Name	constitutional neutropenia
Synonyms	infantile genetic agranulocytosis congenital neutropenia genetic infantile agranulocytosis Kostmann syndrome Kostmann disease Kostmann neutropenia
Definitions	A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood.
ID	http://purl.obolibrary.org/obo/MONDO_0015134
has_exact_synonym	infantile genetic agranulocytosis congenital neutropenia genetic infantile agranulocytosis
has_narrow_synonym	Kostmann syndrome Kostmann disease Kostmann neutropenia
label	constitutional neutropenia
prefixIRI	MONDO:0015134
prefLabel	constitutional neutropenia
textual definition	A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0015133 http://purl.obolibrary.org/obo/MONDO_0009332 http://purl.obolibrary.org/obo/MONDO_0001475

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0015134	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0015134	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0015134	KTAO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0015134	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0015134	MONDO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_14923	HRDO	LOOM
http://www.orpha.net/ORDO/Orphanet_101987	ORDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0015134	KTAO	LOOM