Search Ontology:
Human Disease
factor XI deficiency
- Term ID
- DOID:2229
- Synonyms
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- Congenital factor XI deficiency
- hemophilia C
- Hereditary factor XI deficiency disease
- plasma thromboplastin antecedent deficiency
- Rosenthal's disease
- Definition
- 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. (2)
- References
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- GARD:9670
- ICD10CM:D68.1
- ICD9CM:286.2
- MESH:D005173
- MIM:612416
- NCI:C84705
- SNOMEDCT_US_2023_03_01:49762007
- UMLS_CUI:C0015523
- Ontology
- Human Disease ( DOID:2229 )
- is a type of
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