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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:platelet-type bleeding disorder 14
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Accession:DOID:0111047 term browser browse the term
Definition:A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34. (DO)
Synonyms:exact_synonym: BDPLT14;   thromboxane synthase deficiency
 primary_id: MESH:C562866
 alt_id: OMIM:614158



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platelet-type bleeding disorder 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbxas1 thromboxane A synthase 1 ISO ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 14 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      hematopoietic system disease 3339
        blood coagulation disease 956
          Inherited Blood Coagulation Disease 212
            platelet-type bleeding disorder 14 1
Path 2
Term Annotations click to browse term
  disease 21120
    Developmental Disease 18439
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18300
        genetic disease 18244
          monogenic disease 10306
            autosomal genetic disease 9457
              autosomal dominant disease 6212
                platelet-type bleeding disorder 14 1
paths to the root