RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
F11 deficiency; PLASMA FACTOR XI DEFICIENCY; PTA DEFICIENCY; Rosenthal syndrome; Rosenthal syndromes; Rosenthal's Syndrome; Rosenthal's disease; Rosenthals Syndrome; congenital factor XI deficiency; factor XI deficiencies; hemophilia C; hereditary factor XI deficiency disease; plasma thromboplastin antecedent deficiency
DNA:missense, nonsense, duplication, deletion:cds: DNA:nonsense mutation:exon:G263X(human) ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar Annotator: match by term: Plasma factor XI deficiency CTD Direct Evidence: marker/mechanism OMIM:612416
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