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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


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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 DNA:deletion
DNA:missense mutation: :p.V239M (human)
DNA:missense mutation: :p.G233V (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 3 | ClinVar Annotator: match by term: Platelet-type von Willebrand disease | ClinVar Annotator: match by term: Pseudo von Willebrand disease		 CTD
ClinVar
OMIM
RGD		 PMID:2052556 PMID:8384898 PMID:8486780 PMID:12038791 PMID:18492106 More... RGD:10450803, RGD:10450814, RGD:10450823 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      hematopoietic system disease 3339
        blood coagulation disease 959
          Inherited Blood Coagulation Disease 213
            platelet-type bleeding disorder 3 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
                von Willebrand's disease 9
                  platelet-type bleeding disorder 3 1
paths to the root