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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 24
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Accession:DOID:9000430 term browser browse the term
Definition:An autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. Caused by heterozygous mutation in the ITGA3 gene, which encodes platelet glycoprotein alpha-III, on chromosome 17q21.32.
Synonyms:exact_synonym: BDPLT24;   Glanzmann thrombasthenia-like with macrothrombocytopenia 2
 primary_id: OMIM:619271


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Platelet-Type Bleeding Disorder 24 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 24 ClinVar
OMIM		 PMID:15583747 PMID:18065693 PMID:19336737 PMID:20081061 PMID:20804530 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 18969
    disease of anatomical entity 18249
      hematopoietic system disease 3339
        blood coagulation disease 959
          hemorrhagic disease 913
            blood platelet disease 370
              Platelet-Type Bleeding Disorder 24 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Hemic and Lymphatic Diseases 3849
        hematopoietic system disease 3339
          blood coagulation disease 959
            hemorrhagic disease 913
              blood platelet disease 370
                Platelet-Type Bleeding Disorder 24 1
paths to the root