Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Sturge-Weber syndrome
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_591
ageOfOnset

Neonatal/infancy

Neonatale/prima infanzia

Neonatal/infância

Neonatal/infancy

Neonatal / infancia

Néonatal/petite enfance

Neonatal/Kleinkindalter
id_MedDRA

10042265

10057653
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Sturge+Weber%5Bti%5D+OR+Sturge-Weber+syndrome%5Bmajr%5D
id_MeSH

D013341
id_MIM

185300
id_OMS

Q85.8
id_Orpha

3205
id_SNOMEDCT

19886006
id_UMLS

C0038505
inheritance

Esporádico

Sporadic

Sporadisch

Sporadique

Sporadica

Sporadic

Esporádica
patType

malformation syndrome
prefixIRI

hrdo:pat_id_591
prefLabel

Sindrome di Sturge-Weber

Sturge-Weber syndrome

Síndrome de Sturge-Weber

Syndrome de Sturge-Weber

Sturge-Weber-Syndrom

Síndrome de Sturge-Weber
prevalence

Inconnu

Unknown

Unknown

Desconocido

Unbekannt

Desconhecido

Sconosciuto
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_8
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0111563 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0008501 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008501 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0111563 DOID LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/19886006 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.562.800 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.907.077.850 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D013341 MDM LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Sturge-Weber_Syndrome ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Sturge-Weber_Syndrome MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Sturge-Weber_Syndrome EPISEM LOOM
http://purl.bioontology.org/ontology/MEDDRA/10042265 MEDDRA LOOM
http://www.gamuts.net/entity#Sturge_Weber_syndrome GAMUTS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3391 NCIT LOOM
http://www.orpha.net/ORDO/Orphanet_3205 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.557.645.375.850 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D013341 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0008501 DOVES LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#11796 OCHV LOOM
http://purl.obolibrary.org/obo/DERMO_0001978 DERMO LOOM
http://purl.bioontology.org/ontology/RCD/PK61. RCD LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036296 PMAPP-PMO LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Sturge-Weber_Syndrome PEDTERM LOOM
http://identifiers.org/omim/185300 REXO LOOM
http://identifiers.org/omim/185300 GEXO LOOM
http://identifiers.org/omim/185300 RETO LOOM
http://purl.bioontology.org/ontology/ISSVA/ISSVA_140 ISSVA LOOM
http://purl.bioontology.org/ontology/MESH/D013341 MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/PK61.00 RCTV2 LOOM
http://purl.obolibrary.org/obo/NCIT_C3391 BERO LOOM
http://purl.bioontology.org/ontology/OMIM/185300 OMIM LOOM
http://purl.obolibrary.org/obo/DOID_0111563 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_0111563 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0111563 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0111563 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0111563 FNS-H LOOM
http://purl.jp/bio/4/id/200906038977310206 IOBC LOOM
http://purl.obolibrary.org/obo/OMIT_0014216 OMIT LOOM