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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 chr10:48,883,116...48,922,377
Ensembl chr10:48,866,933...48,922,262 		JBrowse link
G LOC100516390 ankyrin repeat domain-containing protein 26 ISO ClinVar Annotator: match by term: ANKRD26-related condition | ClinVar Annotator: match by term: Thrombocytopenia 2 OMIM
ClinVar		 PMID:10521306 PMID:17666371 PMID:20626622 PMID:21211618 PMID:21467542 More... NCBI chr10:48,694,806...48,795,783 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 chr10:48,855,895...48,877,504
Ensembl chr10:48,856,072...48,880,475 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15428
    Developmental Disease 13488
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12610
        genetic disease 12318
          chromosomal disease 3092
            Thrombocytopenia 2 3
Path 2
Term Annotations click to browse term
  disease 15428
    disease of anatomical entity 15098
      Hemic and Lymphatic Diseases 4082
        hematopoietic system disease 3626
          blood coagulation disease 1379
            hemorrhagic disease 1336
              blood platelet disease 421
                thrombocytopenia 312
                  Thrombocytopenia 2 3
paths to the root