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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:Quebec platelet disorder
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Accession:DOID:0111050 term browser browse the term
Definition:A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degredation that has material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22. (DO)
Synonyms:exact_synonym: BDPLT5;   Bleeding Disorder, Platelet-Type, 5;   Factor V Quebec;   QPD
 primary_id: MESH:C536260
 alt_id: OMIM:601709
 xref: GARD:8345;   ORDO:220436
For additional species annotation, visit the Alliance of Genome Resources.



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Quebec platelet disorder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plau plasminogen activator, urokinase ISO ClinVar Annotator: match by term: Quebec platelet disorder OMIM
ClinVar
PMID:18988861 PMID:20007542 PMID:25741868 PMID:28492532 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      hematopoietic system disease 2822
        blood coagulation disease 830
          hemorrhagic disease 799
            blood platelet disease 313
              Quebec platelet disorder 1
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          monogenic disease 8558
            autosomal genetic disease 7555
              autosomal recessive disease 4613
                factor V deficiency 5
                  Quebec platelet disorder 1
paths to the root