Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Achondroplasia
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_148
ageOfDeath

Elderly
ageOfOnset

Neonatal/infancy
id_MedDRA

10000452
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Achondroplasia%22%5BMeSH+Major+Topic%5D+AND+%22humans%22%5BMeSH+Terms%5D
id_MeSH

D000130
id_MIM

100800
id_OMS

Q77.4
id_Orpha

15
id_SNOMEDCT

86268005
id_UMLS

C0001080
inheritance

Autosomal dominant
patType

disease
prefixIRI

hrdo:pat_id_148
prefLabel

Achondroplasia
prevalence

1-9 / 100 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_4480 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0007037 MONDO LOOM
http://purl.org/skeletome/bonedysplasia#Achondroplasia BDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.708.017 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D000130 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0007037 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0007037 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007037 DOVES LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0001080 MEDLINEPLUS LOOM
http://purl.bioontology.org/ontology/OMIM/100800 OMIM LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00A16 SNMI LOOM
http://purl.bioontology.org/ontology/RCD/XE1M7 RCD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.343.110 RH-MESH LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Achondroplasia PEDTERM LOOM
http://www.projecthalo.com/aura#Achondroplasia AURA LOOM
http://identifiers.org/omim/100800 REXO LOOM
http://identifiers.org/omim/100800 GEXO LOOM
http://identifiers.org/omim/100800 RETO LOOM
http://purl.jp/bio/4/id/200906065894508826 IOBC LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q77.4 ICD10CM LOOM
http://localhost/plosthes.2017-1#11376 PLOSTHES LOOM
http://www.co-ode.org/ontologies/galen#Achondroplasia GALEN LOOM
urn:agi-pathway:uuid-708db1ba-e8b3-4b18-b3b1-e89e3e4a653f BPT LOOM
http://www.radlex.org/RID/RID34620 RADLEX LOOM
http://purl.bioontology.org/ontology/MESH/D000130 MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/86268005 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/OMIM_100800 CCO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_4480 NATPRO LOOM
http://www.orpha.net/ORDO/Orphanet_15 ORDO LOOM
http://purl.obolibrary.org/obo/DOID_4480 CLO LOOM
http://purl.obolibrary.org/obo/DOID_4480 DTO LOOM
http://purl.obolibrary.org/obo/DOID_4480 DOID LOOM
http://purl.obolibrary.org/obo/DOID_4480 BAO LOOM
http://purl.obolibrary.org/obo/DOID_4480 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_4480 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_4480 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_4480 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_4480 FNS-H LOOM
http://purl.bioontology.org/ontology/RCTV2/PG41.00 RCTV2 LOOM
urn:agi-folder:achondroplasia BPT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34345 NCIT LOOM
http://nanbyodata.jp/ontology/NANDO_1200877 NANDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036720 PMAPP-PMO LOOM
rgo:12490 GAMUTS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Achondroplasia CSEO LOOM
http://nanbyodata.jp/ontology/NANDO_2201009 NANDO LOOM
http://purl.bioontology.org/ontology/ICD10/Q77.4 ICD10 LOOM
http://purl.bioontology.org/ontology/CSP/1849-0171 CRISP LOOM
http://purl.obolibrary.org/obo/NCIT_C34345 BERO LOOM
http://purl.obolibrary.org/obo/OMIT_0001572 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.240.500 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0001080 OCHV LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#628 OCHV LOOM
http://purl.bioontology.org/ontology/MEDDRA/10000452 MEDDRA LOOM