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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;   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
RGD
PMID:1638023 PMID:9215749 PMID:9834222 PMID:10607701 PMID:15099289 More... RGD:10755462, RGD:10755469, RGD:10755470, RGD:10766467 NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
JBrowse link
G Itgb3 integrin subunit beta 3 ISO
ISS
DNA:missense mutations, deletions, insertion:exon:multiple
ClinVar Annotator: match by term: Platelet-type bleeding disorder 16
OMIM:187800
ClinVar
MouseDO
RGD
PMID:19570064 PMID:19821948 PMID:20804530 PMID:21287507 PMID:22490273 More... RGD:10755462, RGD:10755466, RGD:10755470 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      hematopoietic system disease 2831
        blood coagulation disease 832
          Inherited Blood Coagulation Disease 165
            Glanzmann's thrombasthenia 4
              platelet-type bleeding disorder 16 2
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      Hemic and Lymphatic Diseases 3292
        hematopoietic system disease 2831
          blood coagulation disease 832
            hemorrhagic disease 801
              blood platelet disease 313
                Glanzmann's thrombasthenia 4
                  platelet-type bleeding disorder 16 2
paths to the root