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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:exact_synonym: MACTHC1;   TUBB1-RELATED CONDITION;   autosomal dominant isolated macrothrombocytopenia 1
 primary_id: MESH:C567747
 alt_id: OMIA:001001;   OMIM:613112
 xref: ORDO:140957


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 1, autosomal dominant | ClinVar Annotator: match by term: TUBB1-related condition		 OMIM
CTD
ClinVar		 PMID:4516618 PMID:18849486 PMID:24344610 PMID:24777453 PMID:25741868 More... NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                autosomal dominant macrothrombocytopenia TUBB1-related 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
                thrombocytopenia 282
                  Isolated Macrothrombocytopenia 2
                    autosomal dominant macrothrombocytopenia TUBB1-related 1
paths to the root