Orphanet Rare Disease Ontology

Last uploaded: December 4, 2024

Preferred Name	Acid sphingomyelinase deficiency
Synonyms	ASMD
ID	http://www.orpha.net/ORDO/Orphanet_618899
alternative_term	ASMD
expertlink	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=618899
hasDbXref	UMLS:C5243927
label	Acid sphingomyelinase deficiency
notation	ORPHA:618899 Clinical group
prefixIRI	ORDO:Orphanet_618899
prefLabel	Acid sphingomyelinase deficiency
subClassOf	http://www.orpha.net/ORDO/Orphanet_264719 http://www.orpha.net/ORDO/Orphanet_264992 http://www.orpha.net/ORDO/Orphanet_506210 http://www.orpha.net/ORDO/Orphanet_79225 http://www.orpha.net/ORDO/Orphanet_557492 http://www.orpha.net/ORDO/Orphanet_101940

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0100464	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0100464	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0100464	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0100464	EFO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10083873	MEDDRA	LOOM
http://nanbyodata.jp/ontology/NANDO_1201084	NANDO	LOOM