| 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 autosomal dominant disease is_a thrombophilia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |