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:congenital amegakaryocytic thrombocytopenia
go back to main search page
Accession:DOID:0090118 term browser browse the term
Definition:A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34. (DO)
Synonyms:exact_synonym: CAMT;   congenital amegakaryocytic thrombocytopenic purpura
 primary_id: MESH:C535982
 alt_id: OMIM:604498
 xref: GARD:640;   NCI:C115207;   ORDO:3319
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17147
    physical disorder 3081
      congenital amegakaryocytic thrombocytopenia 1
Path 2
Term Annotations click to browse term
  disease 17147
    disease of anatomical entity 16492
      Hemic and Lymphatic Diseases 2220
        hematopoietic system disease 1798
          blood coagulation disease 651
            hemorrhagic disease 641
              blood platelet disease 315
                thrombocytopenia 257
                  congenital amegakaryocytic thrombocytopenia 1
paths to the root