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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 IAGP ClinVar Annotator: match by term: Thrombocytopenia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:27,182,838...27,242,111
Ensembl chr10:27,168,135...27,243,046
JBrowse link
G ANKRD26 ankyrin repeat domain containing 26 IAGP DNA:mutations:5'utr:
ClinVar Annotator: match by term: ANKRD26-related condition | ClinVar Annotator: match by term: Thrombocytopenia 2
ClinVar
OMIM
RGD
PMID:10521306 PMID:17666371 PMID:20626622 PMID:21211618 PMID:21467542 More... RGD:9681743 NCBI chr10:26,947,582...27,100,494
Ensembl chr10:26,973,793...27,100,494
JBrowse link
G LOC130003554 ATAC-STARR-seq lymphoblastoid silent region 2243 IAGP ClinVar Annotator: match by term: Thrombocytopenia 2
ClinVar Annotator: match by term: ANKRD26-related condition | ClinVar Annotator: match by term: Thrombocytopenia 2
ClinVar PMID:25741868 PMID:28100250 PMID:28492532 PMID:35295078 NCBI chr10:27,100,161...27,100,340 JBrowse link
G MASTL microtubule associated serine/threonine kinase like IAGP ClinVar Annotator: match by term: Thrombocytopenia 2 ClinVar PMID:10891439 PMID:12890928 PMID:19460416 PMID:22102272 PMID:25741868 More... NCBI chr10:27,154,479...27,187,953
Ensembl chr10:27,154,824...27,187,953
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 121159
    Developmental Disease 43248
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 36544
        genetic disease 34712
          chromosomal disease 7810
            Thrombocytopenia 2 4
Path 2
Term Annotations click to browse term
  disease 121159
    disease of anatomical entity 111930
      Hemic and Lymphatic Diseases 9645
        hematopoietic system disease 8779
          blood coagulation disease 2678
            hemorrhagic disease 2469
              blood platelet disease 736
                thrombocytopenia 493
                  Thrombocytopenia 2 4
paths to the root