Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023

Preferred Name	aspartoacylase
Synonyms	Canavan disease
ID	http://www.orpha.net/ORDO/Orphanet_121457
alternative_term	Canavan disease aminoacylase 2 ASP ACY2
hasDbXref	Ensembl:ENSG00000108381 Genatlas:ASPA Reactome:P45381 SwissProt:P45381 OMIM:608034 HGNC:756
label	aspartoacylase
prefixIRI	ORDO:Orphanet_121457
prefLabel	aspartoacylase
symbol	ASPA
subClassOf	http://www.orpha.net/ORDO/Orphanet_410298

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/PR_000004378	EFO	LOOM
http://purl.obolibrary.org/obo/PR_000004378	OBA	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/74849006	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/OMIM/608034	OMIM	LOOM
http://www.ncbi.nlm.nih.gov/gene/11484	NIFSTD	LOOM
http://purl.uniprot.org/uniprot/P45381	FTC	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192694	NCIT	LOOM
http://purl.obolibrary.org/obo/PR_000004378	PR	LOOM
http://purl.obolibrary.org/obo/PR_000004378	NIFSTD	LOOM
http://purl.obolibrary.org/obo/dinto_1644	DINTO	LOOM
http://purl.bioontology.org/ontology/SNMI/F-6B1A0	SNMI	LOOM
http://purl.bioontology.org/ontology/RCD/X80Hb	RCD	LOOM
http://purl.bioontology.org/ontology/MESH/C019751	MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C019751	RH-MESH	LOOM