factor XI deficiency
Information
- Disease name
- factor XI deficiency
- Disease ID
- DOID:2229
- Description
- "A blood coagulation disease 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." [url:https\://ghr.nlm.nih.gov/condition/factor-xi-deficiency, url:https\://www.omim.org/entry/612416]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT02785718 | Unknown status | N/A | The Proteins of the Contact Activation System | June 2015 | September 2016 |
- Disase is a (Disease Ontology)
- DOID:1247
- Cross Reference ID (Disease Ontology)
- GARD:9670
- Cross Reference ID (Disease Ontology)
- ICD10CM:D68.1
- Cross Reference ID (Disease Ontology)
- ICD9CM:286.2
- Cross Reference ID (Disease Ontology)
- MESH:D005173
- Cross Reference ID (Disease Ontology)
- MIM:612416
- Cross Reference ID (Disease Ontology)
- NCI:C84705
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:49762007
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0015523
- Exact Synonym (Disease Ontology)
- Congenital factor XI deficiency
- Exact Synonym (Disease Ontology)
- hemophilia C
- Exact Synonym (Disease Ontology)
- Hereditary factor XI deficiency disease
- Exact Synonym (Disease Ontology)
- plasma thromboplastin antecedent deficiency
- Exact Synonym (Disease Ontology)
- Rosenthal's disease
- MeSH unique ID (MeSH (Medical Subject Headings))
- D005173