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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:Bernard-Soulier Syndrome, Autosomal Dominant
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Accession:DOID:9002406 term browser browse the term
Synonyms:primary_id: MESH:C567696

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Bernard-Soulier Syndrome, Autosomal Dominant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO DNA:missense mutation: :p.N41H (169A>C) (human)
DNA:missense mutation: :p.A156V (515C>T) (human)		 RGD PMID:11222377 PMID:18815197 RGD:10450832 RGD:10450842 NCBI chrNW_004955467:10,333,537...10,347,488
Ensembl chrNW_004955467:10,333,575...10,346,989 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9329
      Bernard-Soulier syndrome 5
        Bernard-Soulier Syndrome, Autosomal Dominant 1
Path 2
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        genetic disease 15939
          monogenic disease 9439
            autosomal genetic disease 8757
              autosomal recessive disease 6141
                Bernard-Soulier syndrome 5
                  Bernard-Soulier Syndrome, Autosomal Dominant 1
paths to the root