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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:thrombophilia due to thrombin defect
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Accession:DOID:0111907 term browser browse the term
Definition:A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2. (DO)
Synonyms:exact_synonym: THPH1;   THROMBOPHILIA DUE TO FACTOR 2 DEFECT;   prothrombin-related thrombophilia
 primary_id: OMIM:188050
 xref: GARD:10815
For additional species annotation, visit the Alliance of Genome Resources.


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thrombophilia due to thrombin defect term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13a1 coagulation factor XIII A1 chain ISO OMIM NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700
JBrowse link
G F2 coagulation factor II ISO ClinVar Annotator: match by term: THROMBOPHILIA DUE TO FACTOR 2 DEFECT
ClinVar Annotator: match by term: Thrombophilia due to thrombin defect
ClinVar
OMIM
PMID:2222810 PMID:2429850 PMID:6305407 PMID:6405779 PMID:8696333 More... NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Thrombophilia due to thrombin defect ClinVar PMID:11950065 PMID:12816860 PMID:16246256 PMID:19486170 PMID:24033266 More... NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
JBrowse link
G Habp2 hyaluronan binding protein 2 ISO OMIM NCBI chr 1:255,315,870...255,350,161
Ensembl chr 1:255,315,915...255,350,160
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: THROMBOPHILIA DUE TO FACTOR 2 DEFECT ClinVar
OMIM
PMID:1522835 PMID:7564788 PMID:7647779 PMID:7741859 PMID:8542260 More... NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      hematopoietic system disease 1908
        blood coagulation disease 648
          thrombophilia 39
            thrombophilia due to thrombin defect 5
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                thrombophilia due to thrombin defect 5
paths to the root