Thrombophilia Due To Hrg Deficiency
Disease ID: disease_node_17042
Connections displayed (default: 10).
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| Dbxref | MIM:613116, ORDO:217467, UMLS_CUI:C2751090 |
|---|---|
| Subclassof | DOID_2452, DOID_0050736 |
| Data Source | DOID |
| Synonyms | THPH11, hereditary thrombophilia due to congenital HRG deficiency, hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency |
| Doid Label | thrombophilia due to HRG deficiency |
| Doid Description | A thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in HRG on chromosome 3q27.3. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17042 |
| Doid Id | DOID_0111903 |
| Label | Thrombophilia Due To Hrg Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Thrombophilia(ID:disease_node_10025) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)