Factor Xi Deficiency
Disease ID: disease_node_3148
Connections displayed (default: 10).
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| Dbxref | GARD:9670, ICD10CM:D68.1, ICD9CM:286.2, MESH:D005173, MIM:612416, NCI:C84705, SNOMEDCT_US_2023_03_01:49762007, UMLS_CUI:C0015523 |
|---|---|
| Subclassof | DOID_0061030, DOID_0050739 |
| Data Source | DOID, MESH |
| Synonyms | Congenital factor XI deficiency, Hereditary factor XI deficiency disease, Rosenthal's disease, hemophilia C, plasma thromboplastin antecedent deficiency |
| Mesh Id | D005173 |
| Mesh Label | Factor XI Deficiency |
| Mesh Subclassof | D020147, D025861, D006474 |
| Doid Label | factor XI deficiency |
| Doid Description | A hemophilia that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2. OMIM mapping confirmed by DO. [SN]. |
| Has Symptom | SYMP_0000007 |
| Has Material Basis In | GENO_0000934 |
| Disease Node Id | disease_node_3148 |
| Doid Id | DOID_2229 |
| Label | Factor Xi Deficiency |
- Outgoing r'ship
HAS_SYMPTOMto/from Bleeding(ID:disease_node_21108) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Hemophilia(ID:disease_node_15603) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Genetic Disease(ID:disease_node_15586) (Disease)