Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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;   Glanzmann thrombasthenia-like with macrothromocytopenia 1;   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.


show annotations for term's descendants           Sort by:
 
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
ISS
DNA:missense mutations, deletions, insertion:exon:multiple
OMIM:187800
ClinVar Annotator: match by term: Platelet-type bleeding disorder 16
MouseDO
ClinVar
PMID:9351872 PMID:15701721 PMID:19570064 PMID:19821948 PMID:20804530 PMID:21287507 PMID:22490273 PMID:22862885 PMID:24617330 PMID:25741868 PMID:28492532 PMID:30138987, PMID:19691478, PMID:23912132, PMID:22250950 RGD:10755462, RGD:10755470, RGD:10755466 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 17129
    disease of anatomical entity 16476
      hematopoietic system disease 1797
        hemorrhagic disease 640
          blood platelet disease 315
            Glanzmann's thrombasthenia 5
              platelet-type bleeding disorder 16 2
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      Hemic and Lymphatic Diseases 2218
        hematopoietic system disease 1797
          blood coagulation disease 650
            hemorrhagic disease 640
              blood platelet disease 315
                Glanzmann's thrombasthenia 5
                  platelet-type bleeding disorder 16 2
paths to the root