Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Gaucher disease
Synonyms

Acid beta-glucosidase deficiency

Glucocerebrosidase deficiency
ID

http://www.limics.org/hrdo/rdfns#pat_id_644
ageOfOnset

Variable
altLabel

Acid beta-glucosidase deficiency

Glucocerebrosidase deficiency
id_MedDRA

10018048
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22gaucher+disease%22%5BMeSH+Terms%5D+OR+Gaucher+Disease%5BTiab%5D
id_MeSH

D005776
id_OMS

E75.2
id_Orpha

355
id_SNOMEDCT

190794006
id_UMLS

C0017205
inheritance

Autosomal recessive
patType

disease
prefixIRI

hrdo:pat_id_644
prefLabel

Gaucher disease
prevalence

1-9 / 100 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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Mapping To Ontology Source
http://www.owl-ontologies.com/unnamed.owl#RID18218 DERMLEX LOOM
http://nanbyodata.jp/ontology/NANDO_2200562 NANDO LOOM
rgo:21673 GAMUTS LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038564 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/MONDO_0018150 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0018150 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018150 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0018150 EFO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.435.825.400 RH-MESH LOOM
http://purl.obolibrary.org/obo/DERMO_0000525 DERMO LOOM
http://doe-generated-ontology.com/OntoAD#C0017205 ONTOAD LOOM
http://purl.bioontology.org/ontology/LNC/MTHU036947 LOINC LOOM
http://purl.bioontology.org/ontology/LNC/LA14039-4 LOINC LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0017205 MEDLINEPLUS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D005776 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.398.641.803.441 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#5396 OCHV LOOM
http://identifiers.org/omim/230800 REXO LOOM
http://identifiers.org/omim/230800 GEXO LOOM
http://identifiers.org/omim/230800 RETO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61268 NCIT LOOM
http://purl.obolibrary.org/obo/OMIT_0006974 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.435.825.400 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIM_230800 CCO LOOM
http://purl.bioontology.org/ontology/MESH/D005776 MESH LOOM
http://bmi.utah.edu/ontologies/hfontology/C0017205 HFO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.435.825.400 RH-MESH LOOM
http://www.co-ode.org/ontologies/galen#GaucherDisease GALEN LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Gaucher_Disease ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Gaucher_Disease MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Gaucher_Disease EPISEM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.595.554.825.400 RH-MESH LOOM
http://purl.jp/bio/4/id/200906058846250543 IOBC LOOM
http://nanbyodata.jp/ontology/NANDO_1200056 NANDO LOOM
http://www.radlex.org/RID/RID34415 RADLEX LOOM
http://purl.bioontology.org/ontology/ICD10CM/E75.22 ICD10CM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.595.554.825.400 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.398.641.803.441 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.435.825.400 RH-MESH LOOM
http://purl.bioontology.org/ontology/LNC/LP113916-3 LOINC LOOM
http://purl.obolibrary.org/obo/NCIT_C61268 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Gaucher_Disease CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.584.687.803.441 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_355 ORDO LOOM