Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Preferred Name

FACTOR XI DEFICIENCY
Synonyms

PTA DEFICIENCY

ROSENTHAL SYNDROME

F11 DEFICIENCY

PLASMA THROMBOPLASTIN ANTECEDENT DEFICIENCY
ID

http://purl.bioontology.org/ontology/OMIM/612416
altLabel

PTA DEFICIENCY

ROSENTHAL SYNDROME

F11 DEFICIENCY

PLASMA THROMBOPLASTIN ANTECEDENT DEFICIENCY
cui

C0015523
Gene Locus

4q35
Gene Symbol

F11
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

612416
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

FACTOR XI DEFICIENCY
tui

T047
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Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRFRE/10018940 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10016082 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10018940 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10/D68.1 ICD10 CUI
http://purl.bioontology.org/ontology/ICD10/D68.1 ICD10 CUI
http://purl.bioontology.org/ontology/SCTSPA/49762007 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10010469 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/D68.1 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRGER/10010469 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10010469 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/49762007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10018940 MDRGER CUI
http://purl.bioontology.org/ontology/ICD9CM/286.2 ICD9CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10016082 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D005173 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D005173 MSHFRE CUI
http://purl.bioontology.org/ontology/RCD/D302. RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10060615 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10016082 MDRFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001202 NDFRT CUI
http://purl.bioontology.org/ontology/MDRGER/10060615 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10060615 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/DC-63240 SNMI CUI
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 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0020587 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0020587 DOVES LOOM
http://nanbyodata.jp/ontology/NANDO_2200679 NANDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131739 NCIT 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 DOID 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://purl.obolibrary.org/obo/DOID_2229 FNS-H 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