Cell Line Ontology

Last uploaded: June 28, 2024
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Preferred Name

Fabry disease
Synonyms

"Fabry's disease" EXACT [SNOMEDCT_2005_07_31:190792005]

"Alpha-galactosidase A deficiency" EXACT [SNOMEDCT_2005_07_31:236536000]

"alpha galactosidase deficiency" EXACT [CSP2005:1849-9034]

"Angiokeratoma Corporis Diffusum" EXACT [NCI2004_11_17:C27528]

"Alpha-galactosidase A deficiency" EXACT [SNOMEDCT_2005_07_31:190796008]

"deficiency of melibiase" EXACT [SNOMEDCT_2005_07_31:124464003]

"Fabry's disease" EXACT [MTHICD9_2006:272.7]

"Fabry's disease (disorder)" EXACT [SNOMEDCT_2005_07_31:16652001]
ID

http://purl.obolibrary.org/obo/DOID_14499
alternative term

"Fabry's disease" EXACT [SNOMEDCT_2005_07_31:190792005]

"Alpha-galactosidase A deficiency" EXACT [SNOMEDCT_2005_07_31:236536000]

"alpha galactosidase deficiency" EXACT [CSP2005:1849-9034]

"Angiokeratoma Corporis Diffusum" EXACT [NCI2004_11_17:C27528]

"Alpha-galactosidase A deficiency" EXACT [SNOMEDCT_2005_07_31:190796008]

"deficiency of melibiase" EXACT [SNOMEDCT_2005_07_31:124464003]

"Fabry's disease" EXACT [MTHICD9_2006:272.7]

"Fabry's disease (disorder)" EXACT [SNOMEDCT_2005_07_31:16652001]
label

Fabry disease
prefixIRI

DOID:14499
prefLabel

Fabry disease
see also

MSH2010_2010_02_22:D000795

URI: http://www.ebi.ac.uk/cellline#Fabry_disease

NCI2009_04D:C27528

SNOMEDCT_2010_1_31:236536000

UMLS_CUI:C0002986

SNOMEDCT_2010_1_31:190792005

OMIM2009_05_01:301500

SNOMEDCT_2010_1_31:16652001

SNOMEDCT_2010_1_31:124464003

OMIM2009_05_01:MTHU001048

SNOMEDCT_2010_1_31:190796008
subClassOf

http://purl.obolibrary.org/obo/DOID_665

http://purl.obolibrary.org/obo/DOID_1927
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_14499 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_14499 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_14499 BMONT SAME_URI
http://purl.obolibrary.org/obo/DOID_14499 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_14499 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_14499 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_14499 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_14499 FNS-H SAME_URI
http://purl.obolibrary.org/obo/DOID_14499 BAO LOOM
http://purl.bioontology.org/ontology/LNC/LA14036-0 LOINC LOOM
http://purl.obolibrary.org/obo/MONDO_0010526 EFO LOOM
http://purl.bioontology.org/ontology/LNC/MTHU036941 LOINC LOOM
http://purl.bioontology.org/ontology/LNC/LP113911-4 LOINC LOOM
http://purl.bioontology.org/ontology/OMIM/301500 OMIM LOOM
http://purl.obolibrary.org/obo/MONDO_0010526 MONDO LOOM
http://purl.bioontology.org/ontology/MESH/D000795 MESH LOOM
http://purl.obolibrary.org/obo/DOID_14499 DOID LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Fabry_Disease CSEO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036615 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/LNC/LA14036-0 LOINC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.907.253.329.374 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_2200563 NANDO LOOM
http://purl.bioontology.org/ontology/OMIM/301500 OMIM LOOM
http://localhost/plosthes.2017-1#1540613 PLOSTHES LOOM
http://purl.obolibrary.org/obo/MONDO_0010526 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0010526 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0010526 KTAO LOOM
http://purl.obolibrary.org/obo/MONDO_0010526 EFO LOOM
http://purl.obolibrary.org/obo/OMIT_0002202 OMIT LOOM
http://purl.bioontology.org/ontology/LNC/MTHU036941 LOINC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84701 NCIT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_94 HRDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0002986 OCHV LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15120 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.398.641.803.300 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D000795 MESH LOOM
rgo:13286 GAMUTS LOOM
http://purl.obolibrary.org/obo/DERMO_0000522 DERMO LOOM
http://purl.bioontology.org/ontology/LNC/LP113911-4 LOINC LOOM
http://id.nlm.nih.gov/mesh/D000795 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.435.825.200 RH-MESH LOOM
http://bmi.utah.edu/ontologies/hfontology/C0002986 HFO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.398.641.803.300 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14499 NATPRO LOOM
http://www.ustb.edu.cn/thesauri/tocr/v1/data#C571342296272859267 ACVD_ONTOLOGY LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_01a40b76_217e_4e2c_9392_94eb44f0cfa5 STO-DRAFT LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_01a40b76_217e_4e2c_9392_94eb44f0cfa5 CVAO LOOM
http://purl.obolibrary.org/obo/OMIM_301500 CCO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.435.825.200 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#1173 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D000795 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.300.275.374 RH-MESH LOOM
http://identifiers.org/omim/301500 REXO LOOM
http://identifiers.org/omim/301500 GEXO LOOM
http://identifiers.org/omim/301500 RETO LOOM
http://www.co-ode.org/ontologies/galen#FabryDisease GALEN LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.435.825.200 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.435.825.200 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.595.554.825.200 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.584.687.803.300 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.322.124 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_14499 BMONT LOOM
http://purl.obolibrary.org/obo/DOID_14499 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14499 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14499 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_14499 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14499 FNS-H LOOM
http://nanbyodata.jp/ontology/NANDO_1200157 NANDO LOOM
http://purl.obolibrary.org/obo/NCIT_C84701 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.595.554.825.200 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_324 ORDO LOOM