Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Hemophilia

Synonyms
Definitions

A rare hematological disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency.

ID

http://www.orpha.net/ORDO/Orphanet_448

definition

A rare hematological disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448

has_age_of_onset

Antenatal

Infancy

Neonatal

has_inheritance

X-linked recessive

hasDbXref

MedDRA:10061992

UMLS:C0684275

label

Hemophilia

notation

Clinical group

ORPHA:448

prefixIRI

ORDO:Orphanet_448

prefLabel

Hemophilia

present_in

China AND has_point_prevalence_average_value : 6.46 AND has_point_prevalence_range : 1-9 / 100 000

Europe AND has_point_prevalence_average_value : 7.7 AND has_point_prevalence_range : 1-9 / 100 000

Europe AND has_annual_incidence_average_value : 6.25 AND has_annual_incidence_range : 1-9 / 100 000

subClassOf

http://www.orpha.net/ORDO/Orphanet_557492

http://www.orpha.net/ORDO/Orphanet_68334

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_448 EFO SAME_URI
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://www.limics.org/hrdo/rdfns#pat_id_646 HRDO 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://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
http://www.gamuts.net/entity#hemophilia GAMUTS REST
http://www.gamuts.net/entity#hemophilia GAMUTS REST
http://www.gamuts.net/entity#hemophilia GAMUTS REST