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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:Congenital Prothrombin Deficiency
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Accession:DOID:9007075 term browser browse the term
Definition:n extremely rare autosomal recessive bleeding disorder characterized by low levels of circulating prothrombin. There are 2 main types: type I deficiency, known as true prothrombin deficiency or 'hypoprothrombinemia,' is defined as plasma levels of prothrombin being less than 10% of normal with a concomitant decrease in activity. Type II deficiency, known as 'dysprothrombinemia,' is characterized by normal or low-normal synthesis of a dysfunctional protein.
Synonyms:exact_synonym: HEREDITARY FACTOR II DEFICIENCY DISEASE;   HYPOPROTHROMBINEMIA;   PROTHROMBIN DEFICIENCY, CONGENITAL
 related_synonym: DYSPROTHROMBINEMIA;   PROLONGED PROTHROMBIN TIME
 primary_id: OMIM:613679
For additional species annotation, visit the Alliance of Genome Resources.



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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
              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
                  Congenital Prothrombin Deficiency 1
paths to the root