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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 15
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Accession:DOID:0111053 term browser browse the term
Definition:A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q. (DO)
Synonyms:exact_synonym: BDPLT15;   Bleeding disorder platelet type macrothrombocytopenia;   MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, ACTN1-RELATED
 primary_id: OMIM:615193
For additional species annotation, visit the Alliance of Genome Resources.


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platelet-type bleeding disorder 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn1 actinin, alpha 1 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 15
ClinVar Annotator: match by OMIM:615193
OMIM
ClinVar
PMID:23434115, PMID:25741868, PMID:31064749, PMID:31237726, PMID:32581362 NCBI chr 6:103,376,557...103,470,497
Ensembl chr 6:103,375,799...103,470,555
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Bleeding disorder platelet type macrothrombocytopenia ClinVar PMID:23809206, PMID:26316623 NCBI chr 8:33,541,932...33,661,111
Ensembl chr 8:33,543,258...33,661,049
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Pathological Conditions, Signs and Symptoms 8723
      Pathologic Processes 6127
        Hemorrhage 271
          platelet-type bleeding disorder 15 2
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Hemic and Lymphatic Diseases 2045
        hematopoietic system disease 1641
          blood coagulation disease 623
            hemorrhagic disease 610
              blood platelet disease 291
                thrombocytopenia 217
                  platelet-type bleeding disorder 15 2
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.