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| Term | high molecular weight kininogen deficiency | ID (Ontology) | DOID:0111676 (Human Disease) |
| Definition | A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene. | ||
| Also Known As | "congenital high-molecular-weight kininogen deficiency" ; "Fitzgerald trait" ; "HMWK deficiency" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ hematopoietic system disease | |__blood coagulation disease____| high molecular weight kininogen deficiency |
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| Is a |
autosomal recessive disease blood coagulation disease |
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GARD:2684 MESH:C537060 MIM:228960 NCI:C98946 ORDO:483 SNOMEDCT_US_2023_03_01:27312002 UMLS_CUI:C0272340 |
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