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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:autosomal dominant macrothrombocytopenia TUBB1-related
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Accession:DOID:0090102 term browser browse the term
Definition:A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3. (DO)
Synonyms:primary_id: MESH:C567747
 alt_id: OMIA:001001;   OMIM:613112;   RDO:0015731
 xref: ORDO:140957
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal dominant macrothrombocytopenia TUBB1-related term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED
ClinVar Annotator: match by term: Autosomal dominant macrothrombocytopenia TUBB1-related
OMIM
ClinVar
PMID:18849486 PMID:24777453 PMID:25741868 PMID:31064749 NCBI chr 3:172,550,252...172,558,089
Ensembl chr 3:172,550,258...172,558,114
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      hematopoietic system disease 1751
        hemorrhagic disease 626
          blood platelet disease 312
            thrombocytopenia 256
              autosomal dominant macrothrombocytopenia TUBB1-related 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      Hemic and Lymphatic Diseases 2166
        hematopoietic system disease 1751
          blood coagulation disease 636
            hemorrhagic disease 626
              blood platelet disease 312
                thrombocytopenia 256
                  autosomal dominant macrothrombocytopenia TUBB1-related 1
paths to the root