Medical Subject Headings

Last uploaded: August 28, 2024

Preferred Name	Factor XI Deficiency
Synonyms	Factor 11 Deficiency Rosenthal Syndrome Deficiency, Factor Eleven Rosenthal Syndromes Factor XI Deficiencies Rosenthals Syndrome Hemophilia C Rosenthal's Syndromes Factor Eleven Deficiency Syndrome, Rosenthal's Syndrome, Rosenthal Plasma Thromboplastin Antecedent Deficiency Deficiencies, Factor XI Deficiency, Factor XI Deficiency, Factor 11 Deficiencies, Factor 11 Deficiencies, Factor Eleven Factor Eleven Deficiencies Rosenthal's Syndrome Factor 11 Deficiencies
Definitions	A hereditary deficiency of blood coagulation factor XI (also known as plasma thromboplastin antecedent or PTA or antihemophilic factor C) resulting in a systemic blood-clotting defect called hemophilia C or Rosenthal's syndrome, that may resemble classical hemophilia.
ID	http://purl.bioontology.org/ontology/MESH/D005173
altLabel	Factor 11 Deficiency Rosenthal Syndrome Deficiency, Factor Eleven Rosenthal Syndromes Factor XI Deficiencies Rosenthals Syndrome Hemophilia C Rosenthal's Syndromes Factor Eleven Deficiency Syndrome, Rosenthal's Syndrome, Rosenthal Plasma Thromboplastin Antecedent Deficiency Deficiencies, Factor XI Deficiency, Factor XI Deficiency, Factor 11 Deficiencies, Factor 11 Deficiencies, Factor Eleven Factor Eleven Deficiencies Rosenthal's Syndrome Factor 11 Deficiencies
AN	a blood coag disord
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui	C0015523
DC	1
definition	A hereditary deficiency of blood coagulation factor XI (also known as plasma thromboplastin antecedent or PTA or antihemophilic factor C) resulting in a systemic blood-clotting defect called hemophilia C or Rosenthal's syndrome, that may resemble classical hemophilia.
DX	19730101
FX	D005172
HN	1973(1966)
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Inverse of RO	http://purl.bioontology.org/ontology/MESH/D005172
Machine permutation	1973
MDA	19990101
MMR	20170502
MN	C15.378.463.325 C15.378.100.141.325 C16.320.099.325 C15.378.100.100.325
notation	D005173
prefLabel	Factor XI Deficiency
TERMUI	T000913563 T000913564 T000913562 T015843 T000913561 T751085 T015839 T015842 T015838 T015837
TH	OMIM (2013) NLM (1999) NLM (1966) UNK (19XX) NLM (2010) NLM (2018) ORD (2010)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D020147 http://purl.bioontology.org/ontology/MESH/D025861 http://purl.bioontology.org/ontology/MESH/D006474

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/ICD10/D68.1	ICD10	CUI
http://purl.bioontology.org/ontology/OMIM/264900	OMIM	CUI
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/OMIM/612416	OMIM	CUI
http://purl.bioontology.org/ontology/SCTSPA/49762007	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10010469	MDRFRE	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU005159	OMIM	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/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://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://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://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