Experimental Factor Ontology

Last uploaded: November 18, 2024

Details
Visualization
Notes ( 0 )
Class Mappings ( )

Preferred Name	paroxysmal nocturnal hemoglobinuria
Synonyms	hereditary paroxysmal nocturnal hemoglobinuria acquired paroxysmal nocturnal hemoglobinuria paroxysmal hemoglobinuria Marchiafava-Micheli disease inherited paroxysmal nocturnal hemoglobinuria 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://purl.obolibrary.org/obo/MONDO_0100244
closeMatch	http://identifiers.org/meddra/10034042
creator	https://orcid.org/0000-0001-5208-3432
database_cross_reference	icd11.foundation:859588467 MedDRA:10034042 SCTID:127057004 NCIT:C61233 Orphanet:447 DOID:0060284 OMIMPS:300818 UMLS:C0024790 SCTID:1963002 MEDGEN:7471 GARD:7337 HGNC:8957 HP:0004818 NORD:1557
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.
exactMatch	https://omim.org/phenotypicSeries/PS300818 http://identifiers.org/medgen/7471 http://identifiers.org/snomedct/1963002 http://linkedlifedata.com/resource/umls/id/C0024790 http://purl.obolibrary.org/obo/NCIT_C61233 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/859588467 http://purl.obolibrary.org/obo/DOID_0060284 http://purl.obolibrary.org/obo/Orphanet_447
has_exact_synonym	hereditary paroxysmal nocturnal hemoglobinuria acquired paroxysmal nocturnal hemoglobinuria paroxysmal hemoglobinuria Marchiafava-Micheli disease inherited paroxysmal nocturnal hemoglobinuria PNH
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4232
id	MONDO:0100244
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder
label	paroxysmal nocturnal hemoglobinuria
notation	MONDO:0100244
preferred label	paroxysmal nocturnal hemoglobinuria
prefLabel	paroxysmal nocturnal hemoglobinuria
see also	https://rarediseases.info.nih.gov/diseases/7337/paroxysmal-nocturnal-hemoglobinuria
subClassOf	http://purl.obolibrary.org/obo/MONDO_0003656 http://www.ebi.ac.uk/efo/EFO_1000639 http://purl.obolibrary.org/obo/MONDO_0024321 http://purl.obolibrary.org/obo/MONDO_0015909 http://purl.obolibrary.org/obo/MONDO_0004139
excluded_subClassOf	http://purl.obolibrary.org/obo/MONDO_0017748

Add comment

Add proposal

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display

Create mapping

Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0100244	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0100244	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0100244	DOVES	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0100244	KTAO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0100244	MONDO	LOOM
http://purl.obolibrary.org/obo/OMIM_300818	CCO	LOOM
http://nanbyodata.jp/ontology/NANDO_2200621	NANDO	LOOM
http://purl.bioontology.org/ontology/SNMI/DC-15600	SNMI	LOOM
http://www.limics.fr/ontologies/ontolurgences#HemoglobinurieNocturneParoxystique	ONTOLURGENCES	LOOM
rgo:05836	GAMUTS	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	CCONT	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://purl.obolibrary.org/obo/DERMO_0003178	DERMO	LOOM
http://nanbyodata.jp/ontology/NANDO_1200311	NANDO	LOOM
http://purl.obolibrary.org/obo/HP_0004818	HP	LOOM
http://purl.obolibrary.org/obo/HP_0004818	UPHENO	LOOM
http://purl.obolibrary.org/obo/DOID_0060284	DOID	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