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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_004624796:2,261,009...2,297,982 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_004624796:2,215,951...2,244,307
Ensembl chrNW_004624796:2,216,034...2,243,962
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14230
    Developmental Disease 12518
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11792
        genetic disease 11516
          chromosomal disease 2856
            Thrombocytopenia 2 2
Path 2
Term Annotations click to browse term
  disease 14230
    disease of anatomical entity 13932
      Hemic and Lymphatic Diseases 3777
        hematopoietic system disease 3344
          blood coagulation disease 1270
            hemorrhagic disease 1227
              blood platelet disease 392
                thrombocytopenia 283
                  Thrombocytopenia 2 2
paths to the root