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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.


show annotations for term's descendants           Sort by:
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:25741868 PMID:32581362 PMID:34355501 NCBI chr16:46,917,929...46,958,735
Ensembl chr16:46,918,401...46,943,395 		JBrowse link
G Dux4 double homeobox 4 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr16:1,558,430...1,570,045
Ensembl chr16:1,558,766...1,568,565 		JBrowse link
G F11 coagulation factor XI ISO
ISS		 DNA:missense, nonsense, duplication, deletion:cds:
DNA:nonsense mutation:exon:G263X(human)
CTD Direct Evidence: marker/mechanism
OMIM:612416
ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar Annotator: match by term: Plasma factor XI deficiency		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:1547342 PMID:2052060 PMID:2813350 PMID:7669672 PMID:7888672 More... RGD:1598923, RGD:11041741, RGD:11041742 NCBI chr16:46,987,988...47,009,015
Ensembl chr16:46,986,107...47,008,437 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107 		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 chr16:50,925,783...50,946,661
Ensembl chr16:50,925,803...50,946,661 		JBrowse link
G Frg2 FSHD region gene 2 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr14:80,427,260...80,429,560
Ensembl chr14:80,427,673...80,429,181 		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 chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053 		JBrowse link
G Mtnr1a melatonin receptor 1A ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr16:47,144,461...47,163,919
Ensembl chr16:47,144,461...47,163,919 		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 chr16:48,994,968...49,005,343
Ensembl chr16:48,997,252...49,005,417 		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 chr16:48,944,712...48,960,949
Ensembl chr16:48,944,838...48,955,453 		JBrowse link
G Zfp42 zinc finger protein 42 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr16:48,836,463...48,845,443
Ensembl chr16:48,836,648...48,845,401 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      hematopoietic system disease 3339
        blood coagulation disease 959
          Inherited Blood Coagulation Disease 213
            factor XI deficiency 11
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              factor XI deficiency 11
paths to the root