factor XI deficiency (DOID:2229)
Alliance: disease page
Synonyms: Congenital factor XI deficiency; hemophilia C; Hereditary factor XI deficiency disease; plasma thromboplastin antecedent deficiency; Rosenthal's disease
Alt IDs: OMIM:612416, ICD10CM:D68.1, ICD9CM_2006:286.2, ICD9CM:286.2, MESH:D005173, NCI:C84705, UMLS_CUI:C0015523
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.