Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

CANAVAN DISEASE
Synonyms

ASPARTOACYLASE DEFICIENCY
ID

http://purl.bioontology.org/ontology/OMIM/271900
altLabel

ASPARTOACYLASE DEFICIENCY

SPONGY DEGENERATION OF CENTRAL NERVOUS SYSTEM

AMINOACYLASE 2 DEFICIENCY

ASPA DEFICIENCY

ASP DEFICIENCY

CANAVAN-VAN BOGAERT-BERTRAND DISEASE

ACY2 DEFICIENCY
cui

C0206307
Gene Locus

17pter-p13
Gene Symbol

ASPA
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU008396

http://purl.bioontology.org/ontology/OMIM/MTHU009238

http://purl.bioontology.org/ontology/OMIM/MTHU009237

http://purl.bioontology.org/ontology/OMIM/MTHU009233

http://purl.bioontology.org/ontology/OMIM/MTHU009241

http://purl.bioontology.org/ontology/OMIM/MTHU001370

http://purl.bioontology.org/ontology/OMIM/MTHU009234

http://purl.bioontology.org/ontology/OMIM/MTHU005283

http://purl.bioontology.org/ontology/OMIM/MTHU009236

http://purl.bioontology.org/ontology/OMIM/MTHU009239

http://purl.bioontology.org/ontology/OMIM/MTHU002823

http://purl.bioontology.org/ontology/OMIM/MTHU009235

http://purl.bioontology.org/ontology/OMIM/MTHU036360

http://purl.bioontology.org/ontology/OMIM/MTHU004625

http://purl.bioontology.org/ontology/OMIM/MTHU009240

http://purl.bioontology.org/ontology/OMIM/MTHU000235
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

271900
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

CANAVAN DISEASE
Scope Statement

Prevalent in Ashkenazi Jews [MISCELLANEOUS]

Onset of symptoms at 2-4 months [MISCELLANEOUS]

Normal first month [MISCELLANEOUS]

Death within first decade [MISCELLANEOUS]

Caused by mutation in the aspartoacylase gene (ASPA, 608034.0001) [MOLECULAR BASIS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10067608 MDRGER 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/MONDO_0010079 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0010079 MONDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200834 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200948 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_3613 DOID LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.362.375 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D017825 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.362.375 RH-MESH LOOM
http://doe-generated-ontology.com/OntoAD#C0206307 ONTOAD LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#20897 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.500.300 RH-MESH LOOM
http://identifiers.org/omim/271900 REXO LOOM
http://identifiers.org/omim/271900 GEXO LOOM
http://identifiers.org/omim/271900 RETO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Canavan_Disease CSEO LOOM
http://purl.obolibrary.org/obo/MONDO_0010079 DOVES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84611 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.314.400.375 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIM_271900 CCO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3613 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.362.375 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_8 HRDO LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12529 BIRNLEX LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038376 PMAPP-PMO LOOM
http://www.orpha.net/ORDO/Orphanet_141 ORDO LOOM
http://purl.obolibrary.org/obo/OMIT_0018104 OMIT LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0206307 MEDLINEPLUS LOOM
http://purl.bioontology.org/ontology/ICD10CM/E75.28 ICD10CM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.150 RH-MESH LOOM
http://purl.jp/bio/4/id/200906066593819946 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D017825 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10067608 MEDDRA LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0206307 OCHV LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12529 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12529 NIFSTD LOOM
http://purl.obolibrary.org/obo/NCIT_C84611 BERO LOOM
http://www.gamuts.net/entity#Canavan_disease GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_3613 CLO LOOM
http://purl.obolibrary.org/obo/DOID_3613 DTO LOOM
http://purl.obolibrary.org/obo/DOID_3613 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3613 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3613 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3613 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.695.625.375 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.362.375 RH-MESH LOOM