Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Osteopetrosis
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_3700
ageOfOnset

Variable
id_MedDRA

10031280
id_Medline

neant
id_MeSH

D010022
id_OMS

Q78.2
id_Orpha

2781
id_SNOMEDCT

1926006
inheritance

X-linked recessive

Autosomal dominant

Autosomal recessive
patType

group of phenomes
prefixIRI

hrdo:pat_id_3700
prefLabel

Osteopetrosis
prevalence

Unknown
subClassOf

http://www.limics.org/hrdo/rdfns#pat_id_16849

http://www.limics.org/hrdo/rdfns#pat_id_12355
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_13533 DOID LOOM
http://purl.obolibrary.org/obo/HP_0011002 OBA LOOM
http://purl.obolibrary.org/obo/MONDO_0017198 MONDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Osteopetrosis CSEO LOOM
http://vocab.vodan-totafrica.info/vodana-terms/vdiseases/LD24.10 VODANADISEASES LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#9093 OCHV LOOM
http://nanbyodata.jp/ontology/NANDO_1200998 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_13533 DTO LOOM
http://purl.obolibrary.org/obo/DOID_13533 DOID LOOM
http://purl.obolibrary.org/obo/DOID_13533 BAO LOOM
http://purl.obolibrary.org/obo/DOID_13533 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_13533 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_13533 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_13533 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_13533 FNS-H LOOM
http://purl.bioontology.org/ontology/RCD/PG52. RCD LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0029454 OCHV LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q78.2 ICD10CM LOOM
urn:agi-folder:osteopetrosis BPT LOOM
http://scai.fraunhofer.de/CSEO#CSEO_00000256 CSEO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/1926006 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/OMIT_0011028 OMIT LOOM
http://purl.bioontology.org/ontology/ICD9CM/756.52 ICD9CM LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085629 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.708.702.678 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0017198 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0017198 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0017198 DOVES LOOM
http://purl.obolibrary.org/obo/MP_0000067 MP LOOM
http://purl.obolibrary.org/obo/MP_0000067 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0000067 CHIRO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10031280 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26840 NCIT LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:1404 IFAR LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D010022 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D010022 MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/PG52.00 RCTV2 LOOM
http://purl.jp/bio/4/id/200906070677476987 IOBC LOOM
http://purl.obolibrary.org/obo/HP_0011002 CCONT LOOM
http://purl.obolibrary.org/obo/HP_0011002 EFO LOOM
http://purl.obolibrary.org/obo/HP_0011002 HP LOOM
http://purl.obolibrary.org/obo/HP_0011002 UPHENO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU056843 OMIM LOOM
http://www.radlex.org/RID/RID5392 RADLEX LOOM
http://purl.obolibrary.org/obo/NCIT_C26840 BERO LOOM
http://purl.bioontology.org/ontology/ICD10/Q78.2 ICD10 LOOM
http://purl.obolibrary.org/obo/MPATH_592 MPATH LOOM
http://nanbyodata.jp/ontology/NANDO_2201013 NANDO LOOM
http://purl.bioontology.org/ontology/CSP/1849-7232 CRISP LOOM
rgo:08695 GAMUTS LOOM