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Preferred Name

fucosidosis
Synonyms

alpha fucosidase deficiency
Definitions

lysosomal storage disease caused by defective alpha-L-fucosidase and accumulation of fucose containing glycoconjugates; clinical symptoms include psychomotor deterioration, growth retardation, hepatosplenomegaly, cardiomegaly, and seizures.
ID

http://purl.bioontology.org/ontology/CSP/1849-8519
altLabel

alpha fucosidase deficiency
cui

C0016788
definition

lysosomal storage disease caused by defective alpha-L-fucosidase and accumulation of fucose containing glycoconjugates; clinical symptoms include psychomotor deterioration, growth retardation, hepatosplenomegaly, cardiomegaly, and seizures.
DID

1849-8519
Inverse of RB

http://purl.bioontology.org/ontology/CSP/4001-0049

http://purl.bioontology.org/ontology/CSP/0551-8201

http://purl.bioontology.org/ontology/CSP/1849-5878
Inverse of RO

http://purl.bioontology.org/ontology/CSP/1254-7856
notation

1849-8519
prefLabel

fucosidosis
tui

T047
subClassOf

http://purl.bioontology.org/ontology/CSP/4001-0049

http://purl.bioontology.org/ontology/CSP/0551-8201

http://purl.bioontology.org/ontology/CSP/1849-5878
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/NDFRT/N0000001296 NDFRT CUI
http://purl.bioontology.org/ontology/RCD/C31y1 RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/64716005 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/MTHU012937 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/230000 OMIM CUI
http://purl.bioontology.org/ontology/SNMI/D6-72300 SNMI CUI
http://purl.bioontology.org/ontology/OMIM/612280 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/64716005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD10CM/E77.1 ICD10CM CUI
http://purl.bioontology.org/ontology/MSHFRE/D005645 MSHFRE CUI
http://purl.bioontology.org/ontology/MESH/D005645 MESH CUI
http://purl.obolibrary.org/obo/MONDO_0009254 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009254 MONDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200553 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200130 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_14500 DOID LOOM
http://purl.bioontology.org/ontology/RCTV2/C31y100 RCTV2 LOOM
http://purl.bioontology.org/ontology/RCD/C31y1 RCD LOOM
http://purl.obolibrary.org/obo/NCIT_C61274 BERO LOOM
http://www.orpha.net/ORDO/Orphanet_349 ORDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036657 PMAPP-PMO LOOM
http://identifiers.org/omim/230000 REXO LOOM
http://identifiers.org/omim/230000 GEXO LOOM
http://identifiers.org/omim/230000 RETO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_13 HRDO LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Fucosidosis PEDTERM LOOM
http://purl.jp/bio/4/id/200906090563818161 IOBC LOOM
http://purl.obolibrary.org/obo/DOID_14500 CLO LOOM
http://purl.obolibrary.org/obo/DOID_14500 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14500 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14500 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14500 FNS-H LOOM
http://purl.bioontology.org/ontology/OMIM/230000 OMIM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.595.554.295 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0009254 DOVES LOOM
http://www.gamuts.net/entity#fucosidosis GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.202.303 RH-MESH LOOM
http://purl.obolibrary.org/obo/DERMO_0000523 DERMO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/64716005 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.435.295 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.595.554.295 RH-MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15122 DERMLEX LOOM
http://purl.obolibrary.org/obo/OMIT_0006847 OMIT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14500 NATPRO LOOM
http://purl.bioontology.org/ontology/MESH/D005645 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.435.295 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.435.295 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Fucosidosis CSEO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61274 NCIT LOOM
http://purl.obolibrary.org/obo/OMIM_230000 CCO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.202.303 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.435.295 RH-MESH LOOM
http://purl.org/skeletome/bonedysplasia#Fucosidosis BDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D005645 RH-MESH LOOM