Mondo Disease Ontology

Last uploaded: January 7, 2025

Preferred Name	Niemann-Pick disease type E
Synonyms
Definitions	Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease.
ID	http://purl.obolibrary.org/obo/MONDO_0020384
database_cross_reference	Orphanet:99022 UMLS:C0268248 SCTID:73399005 MEDGEN:82781
definition	Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease.
id	MONDO:0020384
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare
label	Niemann-Pick disease type E
notation	MONDO:0020384
prefLabel	Niemann-Pick disease type E
skos_exactMatch	http://linkedlifedata.com/resource/umls/id/C0268248 http://identifiers.org/medgen/82781 http://identifiers.org/snomedct/73399005
treeView	http://purl.obolibrary.org/obo/MONDO_0001982
subClassOf	http://purl.obolibrary.org/obo/MONDO_0001982

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0020384	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0020384	DOVES	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0020384	EFO	SAME_URI
http://www.limics.org/hrdo/rdfns#pat_id_14039	HRDO	LOOM
http://id.nlm.nih.gov/mesh/D052537	MDM	LOOM
http://purl.bioontology.org/ontology/SNMI/D6-74050	SNMI	LOOM
http://purl.obolibrary.org/obo/MONDO_0020384	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0020384	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0020384	EFO	LOOM