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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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Platelet-type bleeding disorder 17		 OMIM
CTD
ClinVar		 PMID:1065298 PMID:5681484 PMID:20861919 PMID:23927492 PMID:24325358 More... NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      hematopoietic system disease 3341
        blood coagulation disease 961
          Inherited Blood Coagulation Disease 213
            platelet-type bleeding disorder 17 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Hemic and Lymphatic Diseases 3852
        hematopoietic system disease 3341
          blood coagulation disease 961
            hemorrhagic disease 915
              blood platelet disease 371
                Glanzmann's thrombasthenia 5
                  platelet-type bleeding disorder 17 1
paths to the root