Metadata | |
---|---|
ID | DOID:2231 |
Name | factor XII deficiency |
Definition | A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33. http://omim.org/entry/234000, https://rarediseases.org/rare-diseases/factor-xii-deficiency/ |
Xrefs |
SNOMEDCT_US_2023_03_01:46981006 |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
deficiency, Hageman [EXACT] Factor XII deficiency disease [EXACT] Hageman Factor deficiency [EXACT] |
Parent Relationships |