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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.



show annotations for term's descendants           Sort by:
 
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 OMIM
ClinVar
PMID:19549989 PMID:19552682 PMID:23815599 PMID:25741868 PMID:28492532 More... 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 18215
    Pathological Conditions, Signs and Symptoms 11356
      Pathologic Processes 7814
        Hemorrhage 280
          platelet-type bleeding disorder 11 1
Path 2
Term Annotations click to browse term
  disease 18215
    Developmental Disease 13068
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11804
        genetic disease 11315
          monogenic disease 8884
            autosomal genetic disease 7927
              autosomal recessive disease 4932
                platelet-type bleeding disorder 11 1
paths to the root