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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


show annotations for term's descendants           Sort by:
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 chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563 		JBrowse link
G Tbxa2r thromboxane A2 receptor susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BLEEDING DISORDER, SUSCEPTIBILITY TO, DUE TO DEFECTIVE PLATELET THROMBOXANE A2 RECEPTOR | ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 13, susceptibility to | ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation		 OMIM
CTD
ClinVar
RGD		 PMID:2955539 PMID:7929844 PMID:8428006 PMID:8613548 PMID:19828703 More... RGD:11059528 NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Pathologic Processes 7991
        Hemorrhage 305
          Platelet-Type Bleeding Disorder 13 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Hemic and Lymphatic Diseases 3849
        hematopoietic system disease 3339
          blood coagulation disease 959
            hemorrhagic disease 913
              blood platelet disease 370
                Platelet-Type Bleeding Disorder 13 2
paths to the root