| Metadata | |
|---|---|
| ID | DOID:3756 |
| Name | protein C deficiency |
| Definition | A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14. https://pubmed.ncbi.nlm.nih.gov/10942114/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:76407009 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Parent Relationships |
is_a thrombophilia |