Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 12
go back to main search page
Accession:DOID:9005679 term browser browse the term
Definition:An autosomal recessive disorder characterized by congenital thrombocytopenia apparent from infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the GNE gene on chromosome 9p13.
Synonyms:exact_synonym: THC12;   Thrombocytopenia 12 with or without myopathy
 primary_id: MIM:620757



show annotations for term's descendants           Sort by:

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      hematopoietic system disease 3836
        blood coagulation disease 1446
          hemorrhagic disease 1400
            blood platelet disease 454
              thrombocytopenia 328
                Thrombocytopenia 12 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      Hemic and Lymphatic Diseases 4327
        hematopoietic system disease 3836
          blood coagulation disease 1446
            hemorrhagic disease 1400
              blood platelet disease 454
                thrombocytopenia 328
                  Thrombocytopenia 12 1
paths to the root