| Metadata | |
|---|---|
| ID | DOID:2229 |
| PURL | http://purl.obolibrary.org/obo/DOID_2229 Copy |
| Name | factor XI deficiency |
| Definition | 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. https://www.omim.org/entry/612416, https://ghr.nlm.nih.gov/condition/factor-xi-deficiency |
| Xrefs |
SNOMEDCT_US_2025_09_01:49762007 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Congenital factor XI deficiency [EXACT] hemophilia C [EXACT] Hereditary factor XI deficiency disease [EXACT] plasma thromboplastin antecedent deficiency [EXACT] Rosenthal's disease [EXACT] |
| Parent Relationships |
is_a hemophilia |
| Subclass Logical Relationships |
has material basis in some autosomal inheritance has symptom some bleeding disease has basis in some gene |