| Metadata | |
|---|---|
| ID | DOID:0111909 |
| Name | autosomal dominant thrombophilia due to protein C deficiency |
| Definition | A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3. https://pubmed.ncbi.nlm.nih.gov/2437584/, https://pubmed.ncbi.nlm.nih.gov/10942114/, https://pubmed.ncbi.nlm.nih.gov/6547008/ |
| Xrefs | |
| Synonyms |
autosomal dominant PROC deficiency [EXACT] autosomal dominant protein C deficiency [EXACT] THPH3 [EXACT] |
| Parent Relationships |
is_a protein C deficiency |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |