Factor Xii Deficiency
Disease ID: disease_node_3152
Connections displayed (default: 10).
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| Dbxref | GARD:6558, MESH:D005175, MIM:234000, NCI:C131740, ORDO:330, SNOMEDCT_US_2023_03_01:46981006, UMLS_CUI:C0015526 |
|---|---|
| Subclassof | DOID_0050737, DOID_1247 |
| Data Source | DOID, MESH |
| Synonyms | Factor XII deficiency disease, Hageman Factor deficiency, deficiency, Hageman |
| Mesh Id | D005175 |
| Mesh Label | Factor XII Deficiency |
| Mesh Subclassof | D020147, D025861, D006474 |
| Doid Label | factor XII deficiency |
| Doid Description | A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_3152 |
| Doid Id | DOID_2231 |
| Label | Factor Xii Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Blood Coagulation Disorders(ID:disease_node_1621) (Disease)