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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 chr17:84,965,602...84,990,439
Ensembl chr17:84,965,662...84,990,439
JBrowse link
G Tbxa2r thromboxane A2 receptor susceptibility IMP
ISO
CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar
RGD
PMID:2955539 PMID:7929844 PMID:8428006 PMID:8613548 PMID:19828703 More... RGD:11059528 NCBI chr10:81,164,102...81,171,008
Ensembl chr10:81,164,565...81,171,006
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15244
    Pathological Conditions, Signs and Symptoms 10478
      Pathologic Processes 7427
        Hemorrhage 266
          Platelet-Type Bleeding Disorder 13 2
Path 2
Term Annotations click to browse term
  disease 15244
    disease of anatomical entity 14892
      Hemic and Lymphatic Diseases 3202
        hematopoietic system disease 2751
          blood coagulation disease 820
            hemorrhagic disease 788
              blood platelet disease 311
                Platelet-Type Bleeding Disorder 13 2
paths to the root