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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 ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 1, autosomal dominant | ClinVar Annotator: match by term: TUBB1-related condition OMIM
ClinVar		 PMID:4516618 PMID:18849486 PMID:24344610 PMID:24777453 PMID:25741868 More... NCBI chr17:59,161,420...59,168,385
Ensembl chr17:59,161,420...59,168,385 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        genetic disease 17155
          monogenic disease 9978
            autosomal genetic disease 9202
              autosomal dominant disease 6055
                autosomal dominant macrothrombocytopenia TUBB1-related 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      Hemic and Lymphatic Diseases 3610
        hematopoietic system disease 3134
          blood coagulation disease 894
            hemorrhagic disease 851
              blood platelet disease 338
                thrombocytopenia 267
                  Isolated Macrothrombocytopenia 2
                    autosomal dominant macrothrombocytopenia TUBB1-related 1
paths to the root