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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 OMIM:614201
ClinVar Annotator: match by term: Platelet-type bleeding disorder 11
OMIM
ClinVar
PMID:19549989 PMID:19552682 PMID:25741868 NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    Pathological Conditions, Signs and Symptoms 10291
      Pathologic Processes 6729
        Hemorrhage 268
          platelet-type bleeding disorder 11 1
Path 2
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9531
        genetic disease 9032
          monogenic disease 7190
            autosomal genetic disease 6338
              autosomal recessive disease 3497
                platelet-type bleeding disorder 11 1
paths to the root