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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;   OMIM:614009;   RDO:9001492
 alt_id: OMIM:614009;   RDO:0014528
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 chr 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
JBrowse link
G Tbxa2r thromboxane A2 receptor susceptibility ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 13, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation
ClinVar
OMIM
CTD
PMID:2955539 PMID:7929844 PMID:8428006 PMID:8613548 PMID:19828703 PMID:22517902 PMID:25741868 PMID:31064749, PMID:9835625 RGD:11059528 NCBI chr 7:11,253,153...11,259,233
Ensembl chr 7:11,253,180...11,257,977
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      hematopoietic system disease 1760
        blood coagulation disease 641
          Platelet-Type Bleeding Disorder 13 2
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      Hemic and Lymphatic Diseases 2175
        hematopoietic system disease 1760
          blood coagulation disease 641
            hemorrhagic disease 631
              blood platelet disease 312
                Platelet-Type Bleeding Disorder 13 2
paths to the root