| Metadata | |
|---|---|
| ID | DOID:0111905 |
| Name | autosomal recessive thrombophilia due to protein S deficiency |
| Definition | A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the PROS1 gene on chromosome 3q11.1. https://pubmed.ncbi.nlm.nih.gov/10063989/, https://pubmed.ncbi.nlm.nih.gov/20484936/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive thrombophilia due to congenital protein S deficiency [EXACT] severe hereditary thrombophilia due to congenital protein S deficiency [EXACT] THPH6 [EXACT] |
| Parent Relationships |
is_a protein S deficiency |