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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:Thrombocytopenia 2
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Accession:DOID:9003390 term browser browse the term
Synonyms:exact_synonym: ANKRD26-RELATED CONDITION;   Helmerhorst Heaton Crossen syndrome;   THC2;   Thrombocytopenia Chromosome Breakage;   thrombocytopenia, autosomal dominant;   thrombocytopenia, autosomal dominant, 2
 xref: MESH:C536519;   MIM:188000;   MONDO:0008555;   NCI:C129035


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Thrombocytopenia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: Thrombocytopenia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955429:2,623,042...2,661,182
Ensembl chrNW_004955429:2,621,904...2,659,537
JBrowse link
G Mastl microtubule associated serine/threonine kinase like ISO ClinVar Annotator: match by term: Thrombocytopenia 2 ClinVar PMID:10891439 PMID:12890928 PMID:19460416 PMID:22102272 PMID:25741868 More... NCBI chrNW_004955429:2,591,173...2,617,084
Ensembl chrNW_004955429:2,591,203...2,617,784
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14337
    Developmental Disease 12609
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11872
        genetic disease 11601
          chromosomal disease 2915
            Thrombocytopenia 2 2
Path 2
Term Annotations click to browse term
  disease 14337
    disease of anatomical entity 14030
      Hemic and Lymphatic Diseases 3817
        hematopoietic system disease 3386
          blood coagulation disease 1283
            hemorrhagic disease 1239
              blood platelet disease 393
                thrombocytopenia 284
                  Thrombocytopenia 2 2
paths to the root