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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;   GFI1B-RELATED CONDITION;   hereditary thrombasthenia-thrombocytopenia
 primary_id: MESH:C566060
 alt_id: MIM:187900
 xref: NCI:C142084;   NCI:C84741



show annotations for term's descendants           Sort by:
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: GFI1B-related condition | 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 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      hematopoietic system disease 3836
        blood coagulation disease 1446
          Inherited Blood Coagulation Disease 705
            platelet-type bleeding disorder 17 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      Hemic and Lymphatic Diseases 4327
        hematopoietic system disease 3836
          blood coagulation disease 1446
            hemorrhagic disease 1400
              blood platelet disease 454
                Glanzmann's thrombasthenia 7
                  platelet-type bleeding disorder 17 1
paths to the root