Mondo Disease Ontology

Last uploaded: January 7, 2025
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Preferred Name

hemophilia
Synonyms

hemophilia
Definitions

Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency.
ID

http://purl.obolibrary.org/obo/MONDO_0018660
database_cross_reference

SCTID:90935002

MEDGEN:146334

GARD:10418

MedDRA:10061992

Orphanet:448

NCIT:C3093

UMLS:C0684275
definition

Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency.
has_exact_synonym

hemophilia
id

MONDO:0018660
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-simple#otar

http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-simple#rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping

http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare
label

hemophilia
notation

MONDO:0018660
prefLabel

hemophilia
skos_closeMatch

http://identifiers.org/meddra/10061992
skos_exactMatch

http://identifiers.org/snomedct/90935002

http://linkedlifedata.com/resource/umls/id/C0684275

http://identifiers.org/medgen/146334

http://purl.obolibrary.org/obo/NCIT_C3093

http://purl.obolibrary.org/obo/Orphanet_448
treeView

http://purl.obolibrary.org/obo/MONDO_0002242
excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019039
subClassOf

http://purl.obolibrary.org/obo/MONDO_0002242
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0018660 CCONT SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018660 DOVES SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018660 EFO SAME_URI
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 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0018660 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0018660 EFO 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://www.orpha.net/ORDO/Orphanet_448 ORDO 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://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
rgo:03228 GAMUTS 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