Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Hemophilia
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_646
ageOfOnset

Neonatal/infancy

Neonatale/prima infanzia

Neonatal/infância

Neonatal/infancy

Neonatal / infancia

Néonatal/petite enfance

Neonatal/Kleinkindalter
id_MedDRA

10061992
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hemophilia+a%5Bmajr%5D+OR+hemophilia+b%5Bmajr%5D
id_MIM

134510

134520

134540
id_OMS

D66

D67
id_Orpha

448
id_SNOMEDCT

90935002
id_UMLS

C0684275
inheritance

X-linked recessive

Recesivo ligado al X

Ligado ao X recessivo

Recessiva legata all'X

X-linked recessive

Récessif lié à l'X

X-chromosomal-rezessiv
patType

disease
prefixIRI

hrdo:pat_id_646
prefLabel

Hemofilia

Hemofilia

Hämophilie

Emofilia

Hemophilia

Hémophilie
prevalence

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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http://purl.obolibrary.org/obo/MONDO_0018660 EFO LOOM
http://purl.obolibrary.org/obo/DOID_2230 CLO LOOM
rgo:03228 GAMUTS LOOM
rgo:03228 GAMUTS LOOM
http://purl.obolibrary.org/obo/MONDO_0018660 MONDO LOOM
http://purl.jp/bio/4/id/200906041872150352 IOBC LOOM
http://www.projecthalo.com/aura#Hemophilia AURA LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/90935002 SNOMEDCT LOOM
http://purl.jp/bio/4/id/kb0000001115 IOBC LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Hemophilia PEDTERM LOOM
http://www.owl-ontologies.com/unnamed.owl#RID18906 DERMLEX LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0684275 OCHV LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Hemophilia APADISORDERS LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Hemophilia APAONTO LOOM
http://purl.obolibrary.org/obo/MONDO_0018660 DOVES LOOM
http://purl.obolibrary.org/obo/NCIT_C3093 BERO LOOM
http://purl.obolibrary.org/obo/NCIT_C3093 GSSO LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0684275 MEDLINEPLUS LOOM
http://www.orpha.net/ORDO/Orphanet_448 ORDO LOOM
http://localhost/plosthes.2017-1#1151 PLOSTHES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hemophilia CSEO LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_2895da09_a458_4718_a1ed_9f384f2ef17a STO-DRAFT LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_2895da09_a458_4718_a1ed_9f384f2ef17a CVAO LOOM
http://purl.bioontology.org/ontology/LNC/LA15174-8 LOINC LOOM
http://www.gamuts.net/entity#hemophilia GAMUTS LOOM
http://purl.bioontology.org/ontology/LNC/MTHU063038 LOINC LOOM
http://purl.bioontology.org/ontology/MEDDRA/10066439 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3093 NCIT LOOM
http://purl.obolibrary.org/obo/DOID_2230 CLO LOOM
urn:agi-folder:hemophilia BPT LOOM
https://github.com/sap218/coid/blob/master/coid.owl#COID_01068 COID LOOM
http://purl.bioontology.org/ontology/LNC/LP124919-4 LOINC LOOM
http://www.shojaee.com/shr/shr.owl#Hemophilia SHR LOOM