| Metadata | |
|---|---|
| ID | DOID:0111676 |
| Name | high molecular weight kininogen deficiency |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/12576314, https://www.ncbi.nlm.nih.gov/pubmed/2989293 |
| Xrefs |
SNOMEDCT_US_2023_03_01:27312002 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
congenital high-molecular-weight kininogen deficiency [EXACT] Fitzgerald trait [EXACT] HMWK deficiency [EXACT] |
| Parent Relationships |