Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

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Preferred Name	paroxysmal nocturnal hemoglobinuria
Synonyms	PNH hereditary paroxysmal nocturnal hemoglobinuria paroxysmal hemoglobinuria Marchiafava-Micheli disease acquired paroxysmal nocturnal hemoglobinuria inherited paroxysmal nocturnal hemoglobinuria
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://purl.obolibrary.org/obo/MONDO_0100244
created_by	https://orcid.org/0000-0001-5208-3432
has_exact_synonym	PNH hereditary paroxysmal nocturnal hemoglobinuria paroxysmal hemoglobinuria Marchiafava-Micheli disease acquired paroxysmal nocturnal hemoglobinuria inherited paroxysmal nocturnal hemoglobinuria
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4232
label	paroxysmal nocturnal hemoglobinuria
prefixIRI	MONDO:0100244
prefLabel	paroxysmal nocturnal hemoglobinuria
seeAlso	https://rarediseases.info.nih.gov/diseases/7337/paroxysmal-nocturnal-hemoglobinuria
textual 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.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0003656 http://purl.obolibrary.org/obo/MONDO_0015610 http://purl.obolibrary.org/obo/MONDO_0024321 http://purl.obolibrary.org/obo/MONDO_0006504 http://purl.obolibrary.org/obo/MONDO_0003664

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0100244	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0100244	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0100244	KTAO	SAME_URI
http://purl.obolibrary.org/obo/HP_0004818	HP	LOOM
http://purl.obolibrary.org/obo/HP_0004818	HP	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/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	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