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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, Type B
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Accession:DOID:9006593 term browser browse the term
Synonyms:exact_synonym: Giant platelet disorder, isolated;   familial macrothrombocytopenia, Bernard-Soulier type
 primary_id: MESH:C565549


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Bernard-Soulier Syndrome, Type B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1bb glycoprotein Ib, beta polypeptide ISO ClinVar Annotator: match by term: Bernard-Soulier syndrome, type B | ClinVar Annotator: match by term: Macrothrombocytopenia, familial, Bernard-Soulier type ClinVar PMID:7633430 PMID:8703016 PMID:9116284 PMID:10887115 PMID:18414213 More... NCBI chr16:18,439,069...18,441,153
Ensembl chr16:18,439,067...18,441,153 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    syndrome 10334
      Bernard-Soulier syndrome 4
        Bernard-Soulier Syndrome, Type B 1
Path 2
Term Annotations click to browse term
  disease 18300
    Developmental Disease 17910
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17780
        genetic disease 17754
          monogenic disease 10359
            autosomal genetic disease 9532
              autosomal recessive disease 6603
                Bernard-Soulier syndrome 4
                  Bernard-Soulier Syndrome, Type B 1
paths to the root