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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 platelet subunit beta 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 chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392 		JBrowse link
G Wfdc21 WAP four-disulfide core domain 21 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 chr10:68,627,836...68,633,705
Ensembl chr10:68,627,820...68,633,701 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19138
    syndrome 11374
      Bernard-Soulier syndrome 5
        Bernard-Soulier Syndrome, Type B 2
Path 2
Term Annotations click to browse term
  disease 19138
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13713
        genetic disease 13378
          monogenic disease 10937
            autosomal genetic disease 10424
              autosomal recessive disease 6982
                Bernard-Soulier syndrome 5
                  Bernard-Soulier Syndrome, Type B 2
paths to the root