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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:prothrombin deficiency
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Accession:DOID:2235 term browser browse the term
Definition:A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11. (DO)
Synonyms:exact_synonym: factor II deficiencies;   factor II deficiency;   hypoprothrombinemia;   hypoprothrombinemias;   prothrombin deficiencies
 primary_id: MESH:D007020
 xref: NCI:C131737;   ORDO:325
For additional species annotation, visit the Alliance of Genome Resources.



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prothrombin deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F2 coagulation factor II ISO DNA:missense mutation: :p.R418W (human)
ClinVar Annotator: match by term: Factor II deficiency
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutation: :p.R271H, p.R382C, p.Q541X (human)
DNA:missense mutations, deletion, splice-site mutation: :multiple
ClinVar
CTD
RGD
PMID:3567158 PMID:6405779 PMID:7740448 PMID:13228032 PMID:19598065 More... RGD:1601108, RGD:10449425, RGD:10449424 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G F7 coagulation factor VII IEP protein:decreased expression:plasma (rat) RGD PMID:2810399 RGD:2312318 NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
JBrowse link
Congenital Prothrombin Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F2 coagulation factor II ISO DNA:deletion, missense mutations:cds:
ClinVar Annotator: match by term: Congenital prothrombin deficiency | ClinVar Annotator: match by term: Hereditary factor II deficiency disease | ClinVar Annotator: match by term: Prolonged prothrombin time
OMIM
ClinVar
RGD
PMID:444582 PMID:625142 PMID:1349838 PMID:1421398 PMID:1557383 More... RGD:11565075 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      hematopoietic system disease 2693
        blood coagulation disease 831
          Coagulation Protein Disorders 91
            prothrombin deficiency 2
              Acquired Hypoprothrombinemia 0
              Congenital Prothrombin Deficiency 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                prothrombin deficiency 2
                  Acquired Hypoprothrombinemia 0
                  Congenital Prothrombin Deficiency 1
paths to the root