Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Paroxysmal nocturnal hemoglobinuria

Synonyms

PNH

Definitions

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.

ID

http://www.orpha.net/ORDO/Orphanet_447

alternative_term

PNH

Marchiafava-Micheli disease

definition

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447

has_age_of_onset

All ages

has_inheritance

Not applicable

hasDbXref

MeSH:D006457

OMIM:300818

MedDRA:10034042

OMIM:615399

UMLS:C0024790

ICD-10:D59.5

ICD-11:3A21.0

label

Paroxysmal nocturnal hemoglobinuria

notation

ORPHA:447

part_of

http://www.orpha.net/ORDO/Orphanet_164823

http://www.orpha.net/ORDO/Orphanet_182047

http://www.orpha.net/ORDO/Orphanet_158300

http://www.orpha.net/ORDO/Orphanet_309515

prefixIRI

ORDO:Orphanet_447

prefLabel

Paroxysmal nocturnal hemoglobinuria

present_in

Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000

United Kingdom AND has_annual_incidence_average_value : 0.35 AND has_annual_incidence_range : 1-9 / 1 000 000

United Kingdom AND has_point_prevalence_average_value : 3.81 AND has_point_prevalence_range : 1-9 / 100 000

treeView

http://www.orpha.net/ORDO/Orphanet_164823

http://www.orpha.net/ORDO/Orphanet_182047

http://www.orpha.net/ORDO/Orphanet_158300

http://www.orpha.net/ORDO/Orphanet_309515

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_447 EFO SAME_URI
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.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.limics.org/hrdo/rdfns#pat_id_21 HRDO 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
http://www.gamuts.net/entity#paroxysmal_nocturnal_hemoglobinuria GAMUTS REST