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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
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Accession:DOID:2217 term browser browse the term
Definition:A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has_material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib. (DO)
Synonyms:exact_synonym: BDPLT1;   BSS;   Bernard-Soulier thrombopathy;   Deficiency of Platelet Glycoprotein 1b;   Giant Platelet Syndrome;   Platelet Glycoprotein Ib Deficiency;   Von Willebrand factor receptor deficiency;   deficiency of platelet glycoprotein Ib;   giant platelet syndromes;   hemorrhagic dystrophic thrombocytopenia;   platelet-type bleeding disorder 1
 primary_id: MESH:D001606
 alt_id: OMIM:231200
 xref: NCI:C84595;   ORDO:274
For additional species annotation, visit the Alliance of Genome Resources.


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Bernard-Soulier syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha treatment ISO
ISS		 DNA:missense mutation: :p.V262G (c.785T>G) (human)
ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome | ClinVar Annotator: match by term: Von Willebrand factor receptor deficiency
OMIM:231200
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, nonsense mutation: :p.C209S (715T>A) (human)
DNA:missense mutation: :p.N45S (1829A>G) (human)
DNA:missense mutation, deletion: :p.L129P, 4630_4631del (human)
DNA:missense mutation: :p.L129P (human)
DNA:missense mutation: :p.N126D (c.376A>G) (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:7579348 PMID:7819107 PMID:7855797 PMID:8950770 PMID:9233564 More... RGD:10450796, RGD:10450843, RGD:10450834, RGD:10450833, RGD:10450819, RGD:10450809, RGD:10450798 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta severity ISO
ISS		 ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome
OMIM:231200
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:p.Y88C,A108P(human)
DNA:deletion:cds:
DNA:missense mutation:exon:c.281A>G(p.D94G)(human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:10887115 PMID:17109744 PMID:25741868 PMID:28492532 PMID:31064749 More... RGD:11040528, RGD:11040529, RGD:11040530, RGD:13464128 NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392 		JBrowse link
G Gp9 glycoprotein IX (platelet) severity ISO ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome | ClinVar Annotator: match by term: Von Willebrand factor receptor deficiency
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:c.182A>G(p.N61S)(human)
DNA:mutation:cds:p.C73Y(human)		 OMIM
ClinVar
CTD
RGD		 PMID:8049428 PMID:8481514 PMID:9163595 PMID:9432024 PMID:11167791 More... RGD:13464128, RGD:11040531 NCBI chr 4:120,235,500...120,237,110
Ensembl chr 4:120,235,421...120,237,110 		JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:14717981 RGD:1580643 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
G Wfdc21 WAP four-disulfide core domain 21 ISO ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome ClinVar PMID:10887115 PMID:17109744 PMID:25741868 PMID:28492532 PMID:31064749 More... NCBI chr10:68,627,836...68,633,705
Ensembl chr10:68,627,820...68,633,701 		JBrowse link
Bernard-Soulier Syndrome Type A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A1 ClinVar PMID:1694864 PMID:1901273 PMID:2308962 PMID:7690774 PMID:7819107 More... NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774 		JBrowse link
Bernard-Soulier syndrome type A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A2, autosomal dominant		 CTD
OMIM
ClinVar		 PMID:1694864 PMID:1730088 PMID:7579348 PMID:7690774 PMID:7819107 More... NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774 		JBrowse link
Bernard-Soulier Syndrome, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO DNA:missense mutation: :p.A156V (515C>T) (human)
DNA:missense mutation: :p.N41H (169A>C) (human)		 RGD PMID:11222377 PMID:18815197 RGD:10450832, RGD:10450842 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774 		JBrowse link
Bernard-Soulier Syndrome, Type B term browser
Symbol Object Name Qualifiers 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
Bernard-Soulier Syndrome, Type C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp9 glycoprotein IX (platelet) ISO DNA:missense mutations:cds:p.D21G, p.N45S (human)
ClinVar Annotator: match by term: Bernard-Soulier syndrome type C		 ClinVar
RGD		 PMID:8049428 PMID:8481514 PMID:9163595 PMID:9432024 PMID:9886312 More... RGD:1599275 NCBI chr 4:120,235,500...120,237,110
Ensembl chr 4:120,235,421...120,237,110 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10886
      Bernard-Soulier syndrome 5
        Bernard-Soulier Syndrome Type A1 1
        Bernard-Soulier Syndrome, Autosomal Dominant 1
        Bernard-Soulier Syndrome, Type B 2
        Bernard-Soulier Syndrome, Type C 1
        Bernard-Soulier syndrome type A2 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        genetic disease 13034
          monogenic disease 10418
            autosomal genetic disease 9576
              autosomal recessive disease 6655
                Bernard-Soulier syndrome 5
                  Bernard-Soulier Syndrome Type A1 1
                  Bernard-Soulier Syndrome, Autosomal Dominant 1
                  Bernard-Soulier Syndrome, Type B 2
                  Bernard-Soulier Syndrome, Type C 1
                  Bernard-Soulier syndrome type A2 1
paths to the root