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.
Instance info
Hämophilie C (DE), Factor 11 Deficiency, Syndrome, Rosenthal's, Factor Eleven Deficiencies, Factor Eleven Deficiency, Syndrome, Rosenthal, Deficiencies, Factor XI, Hemophilia C, Factor 11 Deficiencies, Deficiencies, Factor Eleven, Deficiency, Factor XI, Plasma Thromboplastin Antecedent Deficiency, Deficiency, Factor Eleven, Factor XI Deficiencies, Rosenthal Syndrome, Rosenthal Syndromes, Rosenthal's Syndrome, PTA-Mangel (DE), Deficiencies, Factor 11, Faktor-XI-Mangel (DE), Rosenthals Syndrome, Deficiency, Factor 11, Rosenthal's Syndromes, Rosenthal-Syndrom (DE)
a blood coag disord
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
1
19730101
D005172
1973(1966)
19990101
20170502
C15.378.463.325,C15.378.100.141.325,C15.378.100.100.325,C16.320.099.325
1973
http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503
http://purl.bioontology.org/ontology/MESH/D005172
http://purl.bioontology.org/ontology/MESH/D014842,http://purl.bioontology.org/ontology/MESH/D005171,http://purl.bioontology.org/ontology/MESH/D010981,http://purl.bioontology.org/ontology/MESH/D014884,http://purl.bioontology.org/ontology/MESH/D005175,http://purl.bioontology.org/ontology/MESH/D005177,http://purl.bioontology.org/ontology/MESH/D013915,http://purl.bioontology.org/ontology/MESH/D014923,http://purl.bioontology.org/ontology/MESH/D020141,http://purl.bioontology.org/ontology/MESH/D022861,http://purl.bioontology.org/ontology/MESH/D004211,http://purl.bioontology.org/ontology/MESH/D001606,http://purl.bioontology.org/ontology/MESH/D005168,http://purl.bioontology.org/ontology/MESH/D002836,http://purl.bioontology.org/ontology/MESH/D007020,http://purl.bioontology.org/ontology/MESH/D005166,http://purl.bioontology.org/ontology/MESH/D016553,http://purl.bioontology.org/ontology/MESH/D014813,http://purl.bioontology.org/ontology/MESH/D013920,http://purl.bioontology.org/ontology/MESH/D020151,http://purl.bioontology.org/ontology/MESH/D020152,http://purl.bioontology.org/ontology/MESH/D020016,http://purl.bioontology.org/ontology/MESH/D055652,http://purl.bioontology.org/ontology/MESH/D006467,http://purl.bioontology.org/ontology/MESH/D000347
T015839,T000913561,T000913562,T015838,T000913563,T015837,T000913564,T015843,T015842,T751085
NLM (2018),ORD (2010),OMIM (2013),NLM (1966),NLM (1999),NLM (2010),UNK (19XX)
C0015523
http://purl.bioontology.org/ontology/STY/T047
T047