Medical Subject Headings

Last uploaded: January 31, 2024

Preferred Name	Neutropenia, Severe Congenital, Autosomal Dominant 1
Synonyms
ID	http://purl.bioontology.org/ontology/MESH/C565969
cui	C1859966
Has mapping qualifier	http://purl.bioontology.org/ontology/MESH/Q000151
HM	D009503/Q000151
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D009503
MDA	20121105
MeSH Frequency	0
MMR	20131106
notation	C565969
prefLabel	Neutropenia, Severe Congenital, Autosomal Dominant 1
SC	3
Scope Statement	PROM mutation in the neutrophil elastase gene ELANE
TERMUI	T807704
TH	OMIM (2013)
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/130130	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/202700	OMIM	CUI
http://purl.obolibrary.org/obo/OMIM_202700	CCO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C565969	RH-MESH	LOOM