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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 13
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Accession:DOID:9005302 term browser browse the term
Synonyms:exact_synonym: BDPLT13;   Bleeding Disorder due to Defective Thromboxane A2 Receptor;   IMPAIRED THROMBOXANE A2 AGONIST-INDUCED PLATELET AGGREGATION
 related_synonym: BLEEDING DISORDER, SUSCEPTIBILITY TO, DUE TO DEFECTIVE PLATELET THROMBOXANE A2 RECEPTOR;   PLATELET-TYPE BLEEDING DISORDER 13, SUSCEPTIBILITY TO
 primary_id: MESH:C566055
 alt_id: OMIM:614009
For additional species annotation, visit the Alliance of Genome Resources.


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Platelet-Type Bleeding Disorder 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation ClinVar PMID:32581362 NCBI chrNW_004955441:10,964,588...10,987,771
Ensembl chrNW_004955441:10,964,858...10,986,967
JBrowse link
G Tbxa2r thromboxane A2 receptor susceptibility ISO ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 13, susceptibility to OMIM
ClinVar
PMID:2955539 PMID:7929844 PMID:8428006 PMID:8613548 PMID:19828703 More... NCBI chrNW_004955495:5,539,382...5,557,441
Ensembl chrNW_004955495:5,539,889...5,557,441
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13407
    Pathological Conditions, Signs and Symptoms 9282
      Pathologic Processes 6576
        Hemorrhage 231
          Platelet-Type Bleeding Disorder 13 2
Path 2
Term Annotations click to browse term
  disease 13407
    disease of anatomical entity 13137
      Hemic and Lymphatic Diseases 2840
        hematopoietic system disease 2460
          blood coagulation disease 722
            hemorrhagic disease 693
              blood platelet disease 255
                Platelet-Type Bleeding Disorder 13 2
paths to the root