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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 21
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Accession:DOID:9003946 term browser browse the term
Definition:A hematologic disorder characterized by increased risk of bleeding resulting from a functional platelet defect. (OMIM)
Synonyms:exact_synonym: BDPLT21
 narrow_synonym: platelet-type bleeding disorder 21, autosomal recessive
 primary_id: OMIM:617443


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Platelet-Type Bleeding Disorder 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 21
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23809206 PMID:24100448 PMID:25741868 PMID:26316623 PMID:28255014 More... NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Pathologic Processes 7991
        Hemorrhage 305
          Platelet-Type Bleeding Disorder 21 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Hemic and Lymphatic Diseases 3849
        hematopoietic system disease 3339
          blood coagulation disease 959
            hemorrhagic disease 913
              blood platelet disease 370
                Platelet-Type Bleeding Disorder 21 1
paths to the root