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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
PMID:3567158 PMID:6405779 PMID:7740448, PMID:1349838, PMID:8839854, PMID:14629473 RGD:1601108, RGD:10449425, RGD:10449424 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F7 coagulation factor VII IEP protein:decreased expression:plasma (rat) RGD PMID:2810399 RGD:2312318 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
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 ClinVar Annotator: match by OMIM:613679
ClinVar Annotator: match by null
DNA:deletion, missense mutations:cds:
ClinVar Annotator: match by term: Hereditary factor II deficiency disease
ClinVar Annotator: match by term: Prothrombin deficiency, congenital
ClinVar Annotator: match by term: Prolonged prothrombin time
OMIM
ClinVar
PMID:444582 PMID:625142 PMID:1349838 PMID:1421398 PMID:1557383 PMID:2222810 PMID:2429850 PMID:2719946 PMID:3242619 PMID:3567158 PMID:3771562 PMID:3801671 PMID:6085205 PMID:6305407 PMID:6405779 PMID:7740448 PMID:8696333 PMID:8896550 PMID:8916933 PMID:9106528 PMID:9292507 PMID:9462220 PMID:9493607 PMID:9531249 PMID:9569177 PMID:9694698 PMID:9869612 PMID:10027711 PMID:10233438 PMID:10233439 PMID:10336270 PMID:10348710 PMID:10348711 PMID:10348712 PMID:10406905 PMID:10477778 PMID:10544935 PMID:10651742 PMID:11154146 PMID:11358905 PMID:11443298 PMID:11506076 PMID:11796466 PMID:11874997 PMID:11904676 PMID:12149217 PMID:13217497 PMID:13228032 PMID:14489469 PMID:15059842 PMID:15534175 PMID:16487178 PMID:16493002 PMID:19159930 PMID:19289024 PMID:19531787 PMID:19554541 PMID:19560233 PMID:19598065 PMID:19652888 PMID:20301327 PMID:21243428 PMID:21349849 PMID:23429074 PMID:24033266 PMID:25741868 PMID:27031503 PMID:28492532 PMID:31064749, PMID:11154146 RGD:11565075 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      hematopoietic system disease 1642
        hemorrhagic disease 614
          prothrombin deficiency 2
            Acquired Hypoprothrombinemia 0
            Congenital Prothrombin Deficiency 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                prothrombin deficiency 2
                  Acquired Hypoprothrombinemia 0
                  Congenital Prothrombin Deficiency 1
paths to the root