Metadata | |
---|---|
ID | DOID:0111907 |
Name | thrombophilia due to thrombin defect |
Definition | A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2. https://pubmed.ncbi.nlm.nih.gov/11570053/, https://pubmed.ncbi.nlm.nih.gov/22716977/ |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
prothrombin-related thrombophilia [EXACT] THPH1 [EXACT] thrombophilia due to factor 2 defect [EXACT] |
Parent Relationships |
is_a thrombophilia |