Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Cystinosis
Synonyms

Protein defect of cystin transport
ID

http://www.limics.org/hrdo/rdfns#pat_id_11
ageOfDeath

Adult
ageOfOnset

Variable
altLabel

Protein defect of cystin transport
id_MedDRA

10011777
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=cystinosis%5Bmajr%5D
id_MeSH

D003554
id_MIM

219750

219800

219900
id_OMS

E72.0
id_Orpha

213
id_SNOMEDCT

190681003
id_UMLS

C0010690
inheritance

Autosomal recessive
patType

disease
prefixIRI

hrdo:pat_id_11
prefLabel

Cystinosis
prevalence

1-9 / 1 000 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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Delete Mapping To Ontology Source
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.595.377 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0004840 OMIT LOOM
http://nanbyodata.jp/ontology/NANDO_1200161 NANDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Cystinosis CSEO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0010690 OCHV LOOM
http://purl.obolibrary.org/obo/MONDO_0016239 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0016239 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0016239 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0016239 KTAO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1064 NATPRO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2976 NCIT LOOM
http://purl.bioontology.org/ontology/RCTV2/C300000 RCTV2 LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/190681003 SNOMEDCT LOOM
http://nanbyodata.jp/ontology/NANDO_2200571 NANDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#3556 OCHV LOOM
http://purl.bioontology.org/ontology/MESH/D003554 MESH LOOM
http://purl.bioontology.org/ontology/CSP/1849-0607 CRISP LOOM
http://purl.obolibrary.org/obo/DOID_1064 CLO LOOM
http://purl.obolibrary.org/obo/DOID_1064 DTO LOOM
http://purl.obolibrary.org/obo/DOID_1064 DOID LOOM
http://purl.obolibrary.org/obo/DOID_1064 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1064 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1064 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_1064 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1064 FNS-H LOOM
http://purl.bioontology.org/ontology/SNMI/D6-B5000 SNMI LOOM
http://www.co-ode.org/ontologies/galen#Cystinosis GALEN LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.595.377 RH-MESH LOOM
http://purl.jp/bio/4/id/200906000377020479 IOBC LOOM
http://purl.bioontology.org/ontology/ICD10CM/E72.04 ICD10CM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D003554 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_213 ORDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10011777 MEDDRA LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036683 PMAPP-PMO LOOM
rgo:01885 GAMUTS LOOM
http://purl.obolibrary.org/obo/NCIT_C2976 BERO LOOM
http://purl.bioontology.org/ontology/RCD/C3000 RCD LOOM