Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Holoprosencephaly
Synonyms

HPE
ID

http://www.limics.org/hrdo/rdfns#pat_id_301
ageOfDeath

Any age
ageOfOnset

Neonatal/infancy
altLabel

HPE
id_MedDRA

10056304
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28holoprosencephaly%5Bmh%5D+OR+Holoprosencephaly%5Bti%5D%29+NOT+%28mice%5Bmh%5D+OR+mouse%5Btw%5D%29
id_MeSH

D016142
id_MIM

142945

142946

157170

236100

605934

609408

609637

610828

610829

612530

614226
id_OMS

Q04.2
id_Orpha

2162
id_SNOMEDCT

30915001
id_UMLS

C0079541
inheritance

Multigenic/multifactorial

Sporadic
patType

malformation syndrome
prefixIRI

hrdo:pat_id_301
prefLabel

Holoprosencephaly
prevalence

Unknown
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_8
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_4621 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0016296 MONDO LOOM
http://purl.bioontology.org/ontology/MESH/D016142 MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0016698 OMIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74988 NCIT LOOM
http://purl.bioontology.org/ontology/ICD10/Q04.2 ICD10 LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.500.034.875 RH-MESH LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q04.2 NLMVS LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q04.2 ICD10CM LOOM
http://purl.jp/bio/4/id/200906079467141955 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D016142 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#15186 OCHV LOOM
rgo:07521 GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_4621 CLO LOOM
http://purl.obolibrary.org/obo/DOID_4621 DTO LOOM
http://purl.obolibrary.org/obo/DOID_4621 DOID LOOM
http://purl.obolibrary.org/obo/DOID_4621 BAO LOOM
http://purl.obolibrary.org/obo/DOID_4621 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_4621 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_4621 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_4621 FNS-H LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU000059 OMIM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Holoprosencephaly CSEO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0079541 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.380 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0016296 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0016296 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0016296 DOVES LOOM
http://purl.bioontology.org/ontology/MEDDRA/10056304 MEDDRA LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:1756 IFAR LOOM
http://www.orpha.net/ORDO/Orphanet_2162 ORDO LOOM
http://purl.bioontology.org/ontology/RCD/P225. RCD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.410 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/P225.00 RCTV2 LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.207.410 RH-MESH LOOM
http://purl.obolibrary.org/obo/HP_0001360 HP LOOM
http://purl.obolibrary.org/obo/HP_0001360 UPHENO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085538 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.666.410 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.207.410 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_2200819 NANDO LOOM
http://purl.obolibrary.org/obo/MP_0005157 MP LOOM
http://purl.obolibrary.org/obo/MP_0005157 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0005157 CHIRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.666.034.875 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.380 RH-MESH LOOM
http://purl.org/obo/owl/HP#HP_0001360 BDO LOOM
http://purl.obolibrary.org/obo/NCIT_C74988 BERO LOOM
http://purl.bioontology.org/ontology/LNC/LA19658-6 LOINC LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_4621 NATPRO LOOM