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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: Helmerhorst Heaton Crossen syndrome;   THC2;   Thrombocytopenia Chromosome Breakage;   Thrombocytopenia, Autosomal Dominant, 2;   Thrombocytopenia, autosomal dominant
 primary_id: MESH:C536519;   OMIM:188000;   RDO:0015846
 alt_id: RDO:0002129
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Thrombocytopenia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd26 ankyrin repeat domain 26 ISO ClinVar Annotator: match by null
DNA:mutations:5'utr:
ClinVar Annotator: match by term: Thrombocytopenia 2
OMIM
ClinVar
PMID:10521306, PMID:17666371, PMID:20626622, PMID:21211618, PMID:23677566, PMID:25741868, PMID:28492532, PMID:29185836, PMID:31064749, PMID:32581362, PMID:21467542 RGD:9681743 NCBI chr 4:150,548,656...150,616,928
Ensembl chr 4:150,547,467...150,616,895
JBrowse link
G Mastl microtubule associated serine/threonine kinase-like ISO ClinVar Annotator: match by OMIM:188000
ClinVar Annotator: match by term: Thrombocytopenia 2
ClinVar PMID:10891439, PMID:12890928, PMID:19460416, PMID:22102272, PMID:25741868 NCBI chr17:89,839,562...89,875,855
Ensembl chr17:89,742,140...89,876,825
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          chromosomal disease 1720
            Thrombocytopenia 2 2
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Hemic and Lymphatic Diseases 2053
        hematopoietic system disease 1645
          blood coagulation disease 624
            hemorrhagic disease 611
              blood platelet disease 292
                thrombocytopenia 219
                  Thrombocytopenia 2 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.