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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
For additional species annotation, visit the Alliance of Genome Resources.


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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
ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 21, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 21
ClinVar
OMIM
PMID:23809206, PMID:24100448, PMID:25741868, PMID:26316623, PMID:28255014, PMID:31064749, PMID:32581362 NCBI chr 8:33,541,932...33,661,111
Ensembl chr 8:33,543,258...33,661,049
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Pathological Conditions, Signs and Symptoms 8739
      Pathologic Processes 6124
        Hemorrhage 272
          Platelet-Type Bleeding Disorder 21 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Hemic and Lymphatic Diseases 2053
        hematopoietic system disease 1646
          blood coagulation disease 624
            hemorrhagic disease 611
              blood platelet disease 292
                Platelet-Type Bleeding Disorder 21 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.