Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Osteogenesis imperfecta
Synonyms

OI

Osteopsathyrosis

Brittle bone disease

Porak and Durante disease

Glass bone disease

Lobstein disease
ID

http://www.limics.org/hrdo/rdfns#pat_id_654
ageOfOnset

Variable
altLabel

OI

Osteopsathyrosis

Brittle bone disease

Porak and Durante disease

Glass bone disease

Lobstein disease
id_MedDRA

10031243
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22osteogenesis+imperfecta%22%5BMeSH+Terms%5D+OR+%28Osteogenesis+imperfecta%5BTi%5D+OR+Lobstein+Disease%5Bti%5D+OR+Lobstein%27s+Disease%5Bti%5D%29
id_MeSH

D010013
id_MIM

166200

166210

166220

166230

259420

259440

610682

610915

610967

610968

613848

613849

613982

614856

615066
id_OMS

Q78.0
id_Orpha

666
id_SNOMEDCT

78314001
id_UMLS

C0029434
inheritance

Autosomal dominant

Autosomal recessive
patType

disease
prefixIRI

hrdo:pat_id_654
prefLabel

Osteogenesis imperfecta
prevalence

1-9 / 100 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_12347 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0019019 MONDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.708.685 RH-MESH LOOM
http://purl.obolibrary.org/obo/DERMO_0001816 DERMO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12347 NATPRO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#9082 OCHV LOOM
http://purl.bioontology.org/ontology/RCTV2/PG51.00 RCTV2 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q78.0 ICD10CM LOOM
rgo:09488 GAMUTS LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036731 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/MONDO_0019019 GCBO LOOM
http://purl.obolibrary.org/obo/MONDO_0019019 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0019019 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019019 DOVES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Osteogenesis_Imperfecta CSEO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26837 NCIT LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Osteogenesis_Imperfecta PEDTERM LOOM
http://localhost/plosthes.2017-1#6630 PLOSTHES LOOM
http://purl.bioontology.org/ontology/CSP/1849-7175 CRISP LOOM
http://purl.bioontology.org/ontology/RCD/XE1MD RCD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.300.200.540 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.737 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_666 ORDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/78314001 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0029434 MEDLINEPLUS LOOM
http://purl.obolibrary.org/obo/OMIT_0011019 OMIT LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14895 DERMLEX LOOM
http://purl.obolibrary.org/obo/NCIT_C26837 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D010013 RH-MESH LOOM
http://purl.jp/bio/4/id/200906078673978709 IOBC LOOM
http://purl.bioontology.org/ontology/ICD9CM/756.51 ICD9CM LOOM
http://nanbyodata.jp/ontology/NANDO_1200873 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_12347 CLO LOOM
http://purl.obolibrary.org/obo/DOID_12347 DTO LOOM
http://purl.obolibrary.org/obo/DOID_12347 DOID LOOM
http://purl.obolibrary.org/obo/DOID_12347 BAO LOOM
http://purl.obolibrary.org/obo/DOID_12347 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_12347 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_12347 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_12347 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_12347 FNS-H LOOM
http://purl.bioontology.org/ontology/ICD10/Q78.0 ICD10 LOOM
http://www.radlex.org/RID/RID34746 RADLEX LOOM
http://purl.bioontology.org/ontology/ICPC2P/L82018 ICPC2P LOOM
http://nanbyodata.jp/ontology/NANDO_2201011 NANDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10031243 MEDDRA LOOM
http://purl.bioontology.org/ontology/MESH/D010013 MESH LOOM