Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Angelman syndrome
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_90
ageOfDeath

Normal
ageOfOnset

Neonatal/infancy
id_MedDRA

10049004
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Angelman+syndrome%5BTI%5D+OR+%22angelman+syndrome%22%5BMeSH+Terms%5D
id_MeSH

D017204
id_MIM

105830
id_OMS

Q93.5
id_Orpha

72
id_SNOMEDCT

76880004
id_UMLS

C0162635
inheritance

Sporadic
patType

malformation syndrome
prefixIRI

hrdo:pat_id_90
prefLabel

Angelman syndrome
prevalence

1-9 / 100 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_8
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0007113 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_1932 DOID LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D017204 RH-MESH LOOM
rgo:23699 GAMUTS LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00624 SNMI LOOM
http://purl.obolibrary.org/obo/MONDO_0007113 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0007113 HSPO LOOM
http://purl.obolibrary.org/obo/MONDO_0007113 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007113 DOVES LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/76880004 SNOMEDCT LOOM
http://purl.jp/bio/4/id/200906032858933884 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.095 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Angelman_Syndrome CSEO LOOM
http://purl.obolibrary.org/obo/OMIT_0017595 OMIT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039977 PMAPP-PMO LOOM
http://cbmi.med.harvard.edu/asdphenotype#Class_502 ASDPTO LOOM
http://nanbyodata.jp/ontology/NANDO_2200960 NANDO LOOM
http://purl.bioontology.org/ontology/OMIM/105830 OMIM LOOM
http://identifiers.org/omim/105830 REXO LOOM
http://identifiers.org/omim/105830 GEXO LOOM
http://identifiers.org/omim/105830 RETO LOOM
http://www.projecthalo.com/aura#Angelman-Syndrome AURA LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q93.51 ICD10CM LOOM
http://purl.obolibrary.org/obo/NCIT_C75462 BERO LOOM
http://purl.bioontology.org/ontology/MESH/D017204 MESH LOOM
http://nanbyodata.jp/ontology/NANDO_1200686 NANDO LOOM
http://www.orpha.net/ORDO/Orphanet_72 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.040 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.662.075 RH-MESH LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Angelman_Syndrome PEDTERM LOOM
http://localhost/plosthes.2017-1#6845 PLOSTHES LOOM
urn:agi-folder:angelman_syndrome BPT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#17919 OCHV LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0162635 OCHV LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1932 NATPRO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Angelman_Syndrome ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Angelman_Syndrome MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Angelman_Syndrome EPISEM LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14766 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.040 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75462 NCIT LOOM
http://purl.obolibrary.org/obo/OMIM_105830 CCO LOOM
http://id.nlm.nih.gov/mesh/D017204 MDM LOOM
http://purl.obolibrary.org/obo/DOID_1932 CLO LOOM
http://purl.obolibrary.org/obo/DOID_1932 DTO LOOM
http://purl.obolibrary.org/obo/DOID_1932 DOID LOOM
http://purl.obolibrary.org/obo/DOID_1932 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1932 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_1932 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1932 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1932 FNS-H LOOM