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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 Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004936554:2,872,729...2,996,821
Ensembl chrNW_004936554:2,872,713...2,996,823
JBrowse link
G Frg1 FSHD region gene 1 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004936554:160,360...176,442 JBrowse link
G Klkb1 kallikrein B1 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:32581362 PMID:34355501 NCBI chrNW_004936554:3,227,395...3,256,710
Ensembl chrNW_004936554:3,228,735...3,256,710
JBrowse link
G LOC101967202 coagulation factor XI ISO 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 More... NCBI chrNW_004936554:3,205,539...3,223,228
Ensembl chrNW_004936554:3,205,539...3,219,311
JBrowse link
G LOC101967774 cytochrome P450 4V2 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:32581362 PMID:34355501 NCBI chrNW_004936554:3,272,139...3,293,288
Ensembl chrNW_004936554:3,272,073...3,293,564
JBrowse link
G Mtnr1a melatonin receptor 1A ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004936554:3,013,106...3,047,171
Ensembl chrNW_004936554:3,013,050...3,047,179
JBrowse link
G Triml1 tripartite motif family like 1 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004936554:1,627,624...1,633,479
Ensembl chrNW_004936554:1,627,624...1,633,479
JBrowse link
G Triml2 tripartite motif family like 2 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004936554:1,676,443...1,687,779
Ensembl chrNW_004936554:1,676,443...1,687,758
JBrowse link
G Zfp42 ZFP42 zinc finger protein ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004936554:1,786,355...1,787,125 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14107
      hematopoietic system disease 2985
        blood coagulation disease 858
          Inherited Blood Coagulation Disease 194
            factor XI deficiency 9
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16378
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16321
        genetic disease 16308
          monogenic disease 9557
            autosomal genetic disease 8837
              factor XI deficiency 9
paths to the root