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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_004936484:2,224,308...2,268,302
Ensembl chrNW_004936484:2,225,659...2,271,668
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_004936484:2,276,463...2,306,119
Ensembl chrNW_004936484:2,276,744...2,306,035
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14638
    Developmental Disease 12844
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12086
        genetic disease 11806
          chromosomal disease 2954
            Thrombocytopenia 2 2
Path 2
Term Annotations click to browse term
  disease 14638
    disease of anatomical entity 14327
      Hemic and Lymphatic Diseases 3900
        hematopoietic system disease 3462
          blood coagulation disease 1323
            hemorrhagic disease 1278
              blood platelet disease 394
                thrombocytopenia 287
                  Thrombocytopenia 2 2
paths to the root