Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Porencephaly
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_2654
ageOfOnset

Neonatal/infancy

Neonatale/prima infanzia

Neonatal/infância

Neonatal/infancy

Neonatal / infancia

Néonatal/petite enfance

Neonatal/Kleinkindalter
id_MedDRA

10036172
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Porencephaly%5Bti%5D+%28familial+OR+congenital+OR+hereditary%29
id_MIM

175780

614483
id_OMS

Q04.6
id_Orpha

2940
inheritance

Multigénico/multifactorial

Esporádico

Multigenica/multifattoriale

Multigenic/multifactorial

Polygénique/polyfactoriel

Multigénica/multifactorial

Sporadic

Sporadisch

Sporadique

Sporadica

Sporadic

Multigenic/multifactorial

Esporádica

Polygenetisch/Multifaktoriell
patType

disease
prefixIRI

hrdo:pat_id_2654
prefLabel

Porencéphalie

Porencefalia familiar

Porencefalia

Porencefalia familiar

Porencephaly

Porenzephalie
prevalence

Inconnu

Unknown

Unknown

Desconocido

Unbekannt

Desconhecido

Sconosciuto
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0017410 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0060263 DOID LOOM
http://nanbyodata.jp/ontology/NANDO_1201074 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_0060263 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0017410 EFO LOOM
http://purl.obolibrary.org/obo/DOID_0060263 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0060263 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0060263 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0060263 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0060263 FNS-H LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Porencephaly ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Porencephaly MEPO LOOM
http://www.orpha.net/ORDO/Orphanet_2940 ORDO LOOM
http://purl.obolibrary.org/obo/OMIT_0028719 OMIT LOOM
http://purl.obolibrary.org/obo/MONDO_0017410 DOVES LOOM
http://purl.bioontology.org/ontology/CST/PORENCEPHALY COSTART LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0302892 OCHV LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:1786 IFAR LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#28016 OCHV LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036542 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU007068 OMIM LOOM
http://purl.bioontology.org/ontology/RCD/P243. RCD LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0151860 OCHV LOOM
http://radlex.org/RID/RID5047 RADLEX LOOM
http://scai.fraunhofer.de/CSEO#CSEO_00000281 CSEO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10036172 MEDDRA LOOM
http://purl.bioontology.org/ontology/MESH/D065708 MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/P243.00 RCTV2 LOOM
http://purl.org/obo/owl/HP#HP_0002132 BDO LOOM