Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Details
Visualization
Notes ( 0 )
Class Mappings ( )

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

Add comment

Add proposal

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display

Create mapping

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	OBA	LOOM
http://purl.obolibrary.org/obo/PR_000004378	EFO	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