Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Paroxysmal nocturnal hemoglobinuria
Synonyms

PNH

Marchiafava-Micheli disease
ID

http://www.limics.org/hrdo/rdfns#pat_id_21
ageOfDeath

Any age
ageOfOnset

Adolescence / Young adulthood
altLabel

PNH

Marchiafava-Micheli disease
id_MedDRA

10034042
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hemoglobinuria%2C+paroxysmal%5Bmh%5D+OR+Paroxysmal+nocturnal+hemoglobinuria%5BTi%5D+OR+paroxysmal+hemoglobinuria%5Bti%5D
id_MeSH

D006457
id_MIM

300818
id_OMS

D59.5
id_Orpha

447
id_SNOMEDCT

1963002
id_UMLS

C0024790
inheritance

Sporadic
patType

disease
prefixIRI

hrdo:pat_id_21
prefLabel

Paroxysmal nocturnal hemoglobinuria
prevalence

1-9 / 1 000 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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http://purl.obolibrary.org/obo/DOID_0060284 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0100244 EFO LOOM
http://purl.obolibrary.org/obo/DOID_0060284 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0100244 MONDO LOOM
http://purl.obolibrary.org/obo/HP_0004818 HP LOOM
http://purl.obolibrary.org/obo/OMIM_300818 CCO LOOM
http://purl.bioontology.org/ontology/SNMI/DC-15600 SNMI LOOM
http://www.limics.fr/ontologies/ontolurgences#HemoglobinurieNocturneParoxystique ONTOLURGENCES LOOM
http://www.phoc.org.cn/pmo/class/PMO_00008171 PMAPP-PMO LOOM
http://www.orpha.net/ORDO/Orphanet_447 ORDO LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_64599171_5fff_45c6_b111_bf447c351abc STO-DRAFT LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_64599171_5fff_45c6_b111_bf447c351abc CVAO LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000471836 PDQ LOOM
http://purl.bioontology.org/ontology/CSP/1418-5897 CRISP LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61233 NCIT LOOM
http://purl.obolibrary.org/obo/MONDO_0100244 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0100244 KTAO LOOM
http://id.nlm.nih.gov/mesh/D006457 MDM LOOM
http://purl.obolibrary.org/obo/NCIT_C61233 BERO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10055629 MEDDRA LOOM
http://www.gamuts.net/entity#paroxysmal_nocturnal_hemoglobinuria GAMUTS LOOM
http://purl.obolibrary.org/obo/DERMO_0003178 DERMO LOOM
http://purl.obolibrary.org/obo/HP_0004818 UPHENO LOOM
http://purl.obolibrary.org/obo/DOID_0060284 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0060284 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0060284 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0060284 FNS-H LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/1963002 SNOMEDCT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Paroxysmal_Nocturnal_Hemoglobinuria CSEO LOOM