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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 17
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Accession:DOID:0111049 term browser browse the term
Definition:A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: BDPLT17;   hereditary thrombasthenia-thrombocytopenia
 primary_id: MESH:C566060
 alt_id: OMIM:187900
 xref: NCI:C142084;   NCI:C84741


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platelet-type bleeding disorder 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GFI1B growth factor independent 1B transcriptional repressor IAGP
EXP		 ClinVar Annotator: match by term: Platelet-type bleeding disorder 17
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:1065298 PMID:5681484 PMID:20861919 PMID:23927492 PMID:24325358 More... NCBI chr 9:132,945,531...132,993,434
Ensembl chr 9:132,944,000...132,991,687 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      hematopoietic system disease 4987
        blood coagulation disease 1699
          Inherited Blood Coagulation Disease 695
            platelet-type bleeding disorder 17 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Hemic and Lymphatic Diseases 5702
        hematopoietic system disease 4987
          blood coagulation disease 1699
            hemorrhagic disease 1540
              blood platelet disease 627
                Glanzmann's thrombasthenia 11
                  platelet-type bleeding disorder 17 1
paths to the root