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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 11
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Accession:DOID:0111057 term browser browse the term
Definition:A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: BDPLT11;   GLYCOPROTEIN VI DEFICIENCY;   GP VI DEFICIENCY
 primary_id: OMIM:614201
 xref: ORDO:98885


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platelet-type bleeding disorder 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp6 glycoprotein VI ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 11
CTD Direct Evidence: marker/mechanism
DNA:insertion:exon 6:c.711_712insA (human)		 OMIM
ClinVar
CTD
RGD		 PMID:19549989 PMID:19552682 PMID:23815599 PMID:25741868 PMID:28492532 More... RGD:401794132 NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Pathologic Processes 7982
        Hemorrhage 305
          platelet-type bleeding disorder 11 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal recessive disease 6583
                platelet-type bleeding disorder 11 1
paths to the root