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RGD DISEASE ONTOLOGY - ANNOTATIONS

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.

Term:factor XI deficiency
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Accession:DOID:2229 term browser browse the term
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. (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
 primary_id: MESH:D005173
 alt_id: OMIA:000363;   OMIM:612416
 xref: GARD:9670;   ICD10CM:D68.1;   ICD9CM:286.2;   NCI:C84705
For additional species annotation, visit the Alliance of Genome Resources.


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factor XI deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:32581362 NCBI chr16:50,111,803...50,136,741
Ensembl chr16:50,111,306...50,136,727
JBrowse link
G F11 coagulation factor XI ISO ClinVar Annotator: match by OMIM:612416
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
OMIM
ClinVar
PMID:1547342 PMID:2052060 PMID:2813350 PMID:7669672 PMID:7888672 PMID:8832909 PMID:9401068 PMID:9787168 PMID:10444286 PMID:10593931 PMID:10606881 PMID:10706758 PMID:11122101 PMID:11127865 PMID:11418471 PMID:11895778 PMID:12586617 PMID:12716376 PMID:12879434 PMID:14508802 PMID:14717969 PMID:15026311 PMID:15090552 PMID:15140127 PMID:15140147 PMID:15180874 PMID:15456490 PMID:15531455 PMID:15634276 PMID:15728123 PMID:15749683 PMID:15842381 PMID:15870541 PMID:15946525 PMID:15953011 PMID:15968392 PMID:16079124 PMID:16086308 PMID:16519703 PMID:16607084 PMID:16787881 PMID:16835901 PMID:17229051 PMID:17549289 PMID:18005151 PMID:18024374 PMID:18327400 PMID:18388506 PMID:18446632 PMID:18515884 PMID:18758779 PMID:18832909 PMID:18839438 PMID:19367158 PMID:19652879 PMID:20015217 PMID:20398070 PMID:20523169 PMID:21192253 PMID:21457405 PMID:21649796 PMID:21668437 PMID:21718436 PMID:21824284 PMID:22016685 PMID:22159456 PMID:22197449 PMID:23305485 PMID:23315997 PMID:23332144 PMID:23929304 PMID:24033266 PMID:24112640 PMID:24982842 PMID:25074526 PMID:25158988 PMID:25681615 PMID:25741868 PMID:25741869 PMID:26558335 PMID:26879396 PMID:27067486 PMID:27710856 PMID:27723456 PMID:28492532 PMID:28960694 PMID:31064749 PMID:32581362, PMID:2813350, PMID:11127865, PMID:10706758 RGD:1598923, RGD:11041741, RGD:11041742 NCBI chr16:50,179,458...50,201,644
Ensembl chr16:50,179,458...50,201,698
JBrowse link
G Klkb1 kallikrein B1 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:32581362 NCBI chr16:50,151,127...50,175,407
Ensembl chr16:50,152,008...50,175,458
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      hematopoietic system disease 1647
        hemorrhagic disease 616
          factor XI deficiency 3
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              factor XI deficiency 3
paths to the root