Autosomal Recessive Thrombophilia Due To Protein S Deficiency
Disease ID: disease_node_15583
Connections displayed (default: 10).
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| Dbxref | MIM:614514, ORDO:743, UMLS_CUI:C3281092 |
|---|---|
| Subclassof | DOID_0050737, DOID_2451 |
| Data Source | DOID |
| Synonyms | THPH6, autosomal recessive thrombophilia due to congenital protein S deficiency, severe hereditary thrombophilia due to congenital protein S deficiency |
| Doid Label | autosomal recessive thrombophilia due to protein S deficiency |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15583 |
| Doid Id | DOID_0111905 |
| Label | Autosomal Recessive Thrombophilia Due To Protein S Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Protein S Deficiency(ID:disease_node_9711) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)