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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:Glanzmann Thrombasthenia 1
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Accession:DOID:9002319 term browser browse the term
Definition:An autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. Caused by homozygous or compound heterozygous mutation in the gene encoding platelet glycoprotein alpha-IIb (ITGA2B) on chromosome 17q21.31.
Synonyms:exact_synonym: BDPLT2
 primary_id: OMIM:273800


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Glanzmann Thrombasthenia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2b integrin subunit alpha 2b ISO ClinVar Annotator: match by term: Glanzmann thrombasthenia 1 OMIM
ClinVar		 PMID:1317725 PMID:1926040 PMID:2014236 PMID:7508443 PMID:7620188 More... 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 ClinVar Annotator: match by term: Glanzmann thrombasthenia 1 ClinVar PMID:1371279 PMID:1602006 PMID:9050889 PMID:9215749 PMID:9351872 More... 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 21128
    disease of anatomical entity 18211
      hematopoietic system disease 3344
        blood coagulation disease 959
          Inherited Blood Coagulation Disease 212
            Glanzmann's thrombasthenia 4
              Glanzmann Thrombasthenia 1 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Hemic and Lymphatic Diseases 3853
        hematopoietic system disease 3344
          blood coagulation disease 959
            hemorrhagic disease 913
              blood platelet disease 369
                Glanzmann's thrombasthenia 4
                  Glanzmann Thrombasthenia 1 2
paths to the root