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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;   Glycoprotein Ib, Platelet, Deficiency Of;   Platelet Glycoprotein Ib Deficiency;   Von Willebrand factor receptor deficiency;   giant platelet syndromes;   hemorrhagic dystrophic thrombocytopenia;   platelet-type bleeding disorder 1
 narrow_synonym: BERNARD-SOULIER SYNDROME, TYPE B;   BERNARD-SOULIER SYNDROME, TYPE C;   VON WILLEBRAND FACTOR RECEPTOR DEFICIENCY BERNARD-SOULIER SYNDROME, TYPE A1
 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 ClinVar Annotator: match by term: Bernard Soulier syndrome
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)
DNA:missense mutation: :p.V262G (c.785T>G) (human)
OMIM
ClinVar
PMID:25741868, PMID:11776304, PMID:19404517, PMID:22044935, PMID:10089893, PMID:10996832, PMID:21173099, PMID:23995613 RGD:10450843, RGD:10450834, RGD:10450833, RGD:10450819, RGD:10450809, RGD:10450798, RGD:10450796 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta severity ISO ClinVar Annotator: match by term: Bernard-Soulier syndrome
ClinVar Annotator: match by term: Bernard Soulier syndrome
DNA:missense mutation:exon:c.281A>G(p.D94G)(human)
DNA:deletion:cds:
DNA:mutations:cds:p.Y88C,A108P(human)
OMIM
ClinVar
PMID:10887115, PMID:25741868, PMID:31064749, PMID:32581362, PMID:28131619, PMID:12945881, PMID:17095718, PMID:9116284 RGD:13464128, RGD:11040530, RGD:11040529, RGD:11040528 NCBI chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169
JBrowse link
G Gp9 glycoprotein IX (platelet) severity ISO ClinVar Annotator: match by term: Bernard Soulier syndrome
ClinVar Annotator: match by term: Von Willebrand factor receptor deficiency
DNA:missense mutation:cds:c.182A>G(p.N61S)(human)
ClinVar Annotator: match by OMIM:231200
DNA:mutation:cds:p.C73Y(human)
OMIM
ClinVar
PMID:8049428, PMID:8481514, PMID:11167791, PMID:14510954, PMID:21173099, PMID:21699652, PMID:25370924, PMID:25741868, PMID:28131619, PMID:28492532, PMID:28765788, PMID:31064749, PMID:32581362, PMID:28131619, PMID:8972003 RGD:13464128, RGD:11040531 NCBI chr 4:119,680,671...119,682,006
Ensembl chr 4:119,680,112...119,682,547
JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:14717981 RGD:1580643 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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 ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A2, autosomal dominant
ClinVar Annotator: match by OMIM:153670
OMIM
ClinVar
PMID:1730088, PMID:7690774, PMID:11222377, PMID:25741868, PMID:31064749 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
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 chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
Bernard-Soulier Syndrome, Type A 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:1901273, PMID:2308962, PMID:7690774, PMID:9233564, PMID:11222377, PMID:25741868 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
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: Macrothrombocytopenia, familial, Bernard-Soulier type
ClinVar Annotator: match by term: Bernard-Soulier syndrome, type B
ClinVar PMID:7633430, PMID:8703016, PMID:9116284, PMID:10887115, PMID:18414213, PMID:25741868, PMID:31064749, PMID:32581362 NCBI chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169
JBrowse link
G Gp9 glycoprotein IX (platelet) ISO ClinVar Annotator: match by term: Macrothrombocytopenia, familial Bernard-Soulier type ClinVar PMID:8049428, PMID:8481514, PMID:14510954, PMID:25370924, PMID:25741868, PMID:28131619, PMID:28492532, PMID:28765788, PMID:31064749 NCBI chr 4:119,680,671...119,682,006
Ensembl chr 4:119,680,112...119,682,547
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 PMID:8049428, PMID:8481514, PMID:9163595, PMID:9886312, PMID:11167791, PMID:12100158, PMID:13442197, PMID:14510954, PMID:21173099, PMID:21699652, PMID:25370924, PMID:25741868, PMID:28131619, PMID:28395735, PMID:28492532, PMID:28765788, PMID:29636940, PMID:31064749, PMID:32581362, PMID:8481514 RGD:1599275 NCBI chr 4:119,680,671...119,682,006
Ensembl chr 4:119,680,112...119,682,547
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Bernard-Soulier syndrome 4
        Bernard-Soulier Syndrome, Autosomal Dominant 1
        Bernard-Soulier Syndrome, Type A 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 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                Bernard-Soulier syndrome 4
                  Bernard-Soulier Syndrome, Autosomal Dominant 1
                  Bernard-Soulier Syndrome, Type A 1
                  Bernard-Soulier Syndrome, Type B 2
                  Bernard-Soulier Syndrome, Type C 1
                  Bernard-Soulier syndrome type A2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.