FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

factor XI deficiency
Synonyms
Definitions

A blood coagulation disease that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2.

ID

http://purl.obolibrary.org/obo/DOID_2229

definition

A blood coagulation disease that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

factor XI deficiency

prefixIRI

DOID:2229

prefLabel

factor XI deficiency

subClassOf

http://purl.obolibrary.org/obo/DOID_0050739

http://purl.obolibrary.org/obo/DOID_1247

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Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_2229 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_2229 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_2229 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_2229 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_2229 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/MONDO_0020587 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_2229 DOID LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036575 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/MONDO_0020587 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0020587 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0020587 EFO LOOM
http://nanbyodata.jp/ontology/NANDO_2200679 NANDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131739 NCIT LOOM
http://purl.bioontology.org/ontology/OMIM/612416 OMIM LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU005159 OMIM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.463.325 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#4866 OCHV LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0015523 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.100.141.325 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10016082 MEDDRA LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/767713001 SNOMEDCT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2229 NATPRO LOOM
http://purl.bioontology.org/ontology/MESH/D005173 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.100.100.325 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_2229 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2229 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2229 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_2229 NIFSTD LOOM
http://identifiers.org/omim/612416 REXO LOOM
http://identifiers.org/omim/612416 GEXO LOOM
http://identifiers.org/omim/612416 RETO LOOM
http://purl.bioontology.org/ontology/RCD/D302. RCD LOOM
http://id.nlm.nih.gov/mesh/D005173 MDM LOOM
http://purl.jp/bio/4/id/200906089933750210 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D005173 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.099.325 RH-MESH LOOM
http://www.semanticweb.org/ontologies/2010/10/BPO.owl#factor_XI_deficiency BHO LOOM
http://purl.obolibrary.org/obo/OMIT_0006397 OMIT LOOM
http://purl.obolibrary.org/obo/NCIT_C131739 BERO LOOM
http://purl.obolibrary.org/obo/OMIM_612416 CCO LOOM