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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: Congenital factor II deficiency;   factor II deficiencies;   factor II deficiency;   hypoprothrombinemia;   hypoprothrombinemias;   prothrombin deficiencies
 primary_id: MESH:D007020
 xref: NCI:C131737;   NCI:C26799;   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, thrombin ISO DNA:missense mutation: :p.R418W (human)
ClinVar Annotator: match by term: Congenital factor II deficiency | ClinVar Annotator: match by term: Factor II deficiency
DNA:missense mutations, deletion, splice-site mutation: :multiple
DNA:missense mutations, nonsense mutation: :p.R271H, p.R382C, p.Q541X (human)
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:2222810 PMID:2429850 PMID:2825773 PMID:3567158 PMID:6305407 More... RGD:1601108, RGD:10449424, RGD:10449425 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 chr16:76,489,775...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, thrombin 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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
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 21109
    disease of anatomical entity 18151
      hematopoietic system disease 3315
        blood coagulation disease 943
          Coagulation Protein Disorders 102
            prothrombin deficiency 2
              Acquired Hypoprothrombinemia 0
              Congenital Prothrombin Deficiency 1
Path 2
Term Annotations click to browse term
  disease 21109
    Developmental Disease 18429
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18284
        genetic disease 18227
          monogenic disease 10210
            autosomal genetic disease 9353
              autosomal recessive disease 6380
                prothrombin deficiency 2
                  Acquired Hypoprothrombinemia 0
                  Congenital Prothrombin Deficiency 1
paths to the root