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platelet-type bleeding disorder 11 - Ontology Report - Rat Genome Database

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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;   GP6-RELATED CONDITION
 primary_id: MIM: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 platelet ISO ClinVar Annotator: match by term: GP6-related condition | ClinVar Annotator: match by term: Platelet-type bleeding disorder 11 OMIM
ClinVar		 PMID:16706958 PMID:16706959 PMID:19549989 PMID:19552682 PMID:25741868 More... NCBI chrNW_004936886:295,950...310,614
Ensembl chrNW_004936886:296,025...310,614 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14638
    Pathological Conditions, Signs and Symptoms 11559
      Pathologic Processes 7320
        Hemorrhage 265
          platelet-type bleeding disorder 11 1
Path 2
Term Annotations click to browse term
  disease 14638
    Developmental Disease 12850
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12093
        genetic disease 11814
          monogenic disease 10160
            autosomal genetic disease 9755
              autosomal recessive disease 6737
                platelet-type bleeding disorder 11 1
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