| Metadata | |
|---|---|
| ID | DOID:0111900 |
| Name | autosomal dominant thrombophilia due to protein S deficiency |
| Definition | A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROS1 gene on chromosome 3q11.1. https://pubmed.ncbi.nlm.nih.gov/7545463/, https://pubmed.ncbi.nlm.nih.gov/6239102/, https://pubmed.ncbi.nlm.nih.gov/7780139/ |
| Xrefs | |
| Synonyms |
THPH5 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a protein S deficiency |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |