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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 3
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Accession:DOID:0111056 term browser browse the term
Definition:A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2. (DO)
Synonyms:exact_synonym: BDPLT3;   PT-VWD;   VWDP;   Von Willebrand disease, platelet type;   pseudo-Von Willebrand disease
 primary_id: MESH:C536458
 alt_id: OMIM:177820
 xref: ORDO:52530
For additional species annotation, visit the Alliance of Genome Resources.


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platelet-type bleeding disorder 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by OMIM:177820
DNA:deletion
DNA:missense mutation: :p.V239M (human)
DNA:missense mutation: :p.G233V (human)
ClinVar Annotator: match by term: Pseudo von Willebrand disease
OMIM
ClinVar
PMID:2052556, PMID:8384898, PMID:8486780, PMID:25741868, PMID:31064749, PMID:15705799, PMID:7833477, PMID:2052556 RGD:10450803, RGD:10450814, RGD:10450823 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      hematopoietic system disease 1641
        hemorrhagic disease 610
          von Willebrand's disease 8
            platelet-type bleeding disorder 3 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      Hemic and Lymphatic Diseases 2046
        hematopoietic system disease 1641
          blood coagulation disease 623
            hemorrhagic disease 610
              blood platelet disease 291
                von Willebrand's disease 8
                  platelet-type bleeding disorder 3 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.