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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:platelet-type bleeding disorder 16
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Accession:DOID:0060691 term browser browse the term
Definition:A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32. (DO)
Synonyms:exact_synonym: BDPLT16;   autosomal dominant Glanzmann thrombasthenia;   autosomal dominant thrombasthenia of Glanzmann and Naegeli
 primary_id: MESH:C566061
 alt_id: OMIM:187800
For additional species annotation, visit the Alliance of Genome Resources.


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platelet-type bleeding disorder 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2b integrin subunit alpha 2b ISO DNA:mutations:promoter, exon:multiple
DNA:missense mutation: :p.N2D (97A>G) (human)
DNA:mutation:cds:p.G13V(human)
ClinVar Annotator: match by term: Platelet-type bleeding disorder 16
OMIM
ClinVar
PMID:1638023, PMID:9834222, PMID:15099289, PMID:20020534, PMID:21454453, PMID:22102273, PMID:25539746, PMID:25741868, PMID:28492532, PMID:29090484, PMID:31064749, PMID:31119735, PMID:32581362, PMID:19691478, PMID:21029361, PMID:23912132, PMID:22394243 RGD:10755462, RGD:10755469, RGD:10755470, RGD:10766467 NCBI chr10:90,397,960...90,416,550
Ensembl chr10:90,398,132...90,415,070
JBrowse link
G Itgb3 integrin subunit beta 3 ISO ClinVar Annotator: match by OMIM:187800
ClinVar Annotator: match by term: Platelet-type bleeding disorder 16
DNA:missense mutations, deletions, insertion:exon:multiple
ClinVar
OMIM
PMID:18065693, PMID:19336737, PMID:19570064, PMID:19821948, PMID:20081061, PMID:20804530, PMID:21287507, PMID:22490273, PMID:22862885, PMID:23253071, PMID:24617330, PMID:25741868, PMID:28492532, PMID:23912132, PMID:22250950, PMID:19691478 RGD:10755470, RGD:10755466, RGD:10755462 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      hematopoietic system disease 1641
        hemorrhagic disease 610
          Glanzmann's thrombasthenia 5
            platelet-type bleeding disorder 16 2
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      Hemic and Lymphatic Diseases 2046
        hematopoietic system disease 1641
          blood coagulation disease 623
            hemorrhagic disease 610
              blood platelet disease 291
                Glanzmann's thrombasthenia 5
                  platelet-type bleeding disorder 16 2
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.