Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	ASPARTOACYLASE
Synonyms	CANAVAN DISEASE
ID	http://purl.bioontology.org/ontology/OMIM/608034
altLabel	CANAVAN DISEASE ASPA CANAVAN DISEASE, MILD AMINOACYLASE 2 ACY2
cui	C4017127 C0206307 C1412591
Gene Locus	17pter-p13
Gene Symbol	ASPA
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/608034.0008 http://purl.bioontology.org/ontology/OMIM/608034.0003 http://purl.bioontology.org/ontology/OMIM/608034.0002 http://purl.bioontology.org/ontology/OMIM/608034.0001 http://purl.bioontology.org/ontology/OMIM/608034.0004 http://purl.bioontology.org/ontology/OMIM/608034.0007 http://purl.bioontology.org/ontology/OMIM/608034.0006 http://purl.bioontology.org/ontology/OMIM/608034.0005 http://purl.bioontology.org/ontology/OMIM/608034.0009 http://purl.bioontology.org/ontology/OMIM/608034.0010 http://purl.bioontology.org/ontology/OMIM/608034.0011 http://purl.bioontology.org/ontology/OMIM/608034.0012
MIMTYPEMEANING	Gene with known sequence
notation	608034
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	ASPARTOACYLASE
tui	T047 T033 T028

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10067608	MDRGER	CUI
http://purl.bioontology.org/ontology/LNC/LP19503-9	LOINC	CUI
http://purl.bioontology.org/ontology/MESH/D017825	MESH	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/80544005	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRFRE/10067608	MDRFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/80544005	SCTSPA	CUI
http://purl.bioontology.org/ontology/MSHFRE/D017825	MSHFRE	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003642	NDFRT	CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0206307	MEDLINEPLUS	CUI
http://purl.bioontology.org/ontology/ICD10CM/E75.28	ICD10CM	CUI
http://purl.bioontology.org/ontology/RCD/X005T	RCD	CUI
http://purl.bioontology.org/ontology/MEDDRA/10067608	MEDDRA	CUI
http://purl.bioontology.org/ontology/SNMI/DA-20168	SNMI	CUI
http://purl.obolibrary.org/obo/PR_000004378	EFO	LOOM
http://purl.obolibrary.org/obo/PR_000004378	OBA	LOOM
http://www.orpha.net/ORDO/Orphanet_121457	ORDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/74849006	SNOMEDCT	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