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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:congenital amegakaryocytic thrombocytopenia
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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
 xref: GARD:640;   NCI:C115207;   ORDO:3319


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congenital amegakaryocytic thrombocytopenia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO
ISS		 ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia
OMIM:604498
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD		 PMID:971406 PMID:8073287 PMID:9536098 PMID:10077649 PMID:10971406 More... NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797 		JBrowse link
Congenital Amegakaryocytic Thrombocytopenia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 1 OMIM
ClinVar		 PMID:8073287 PMID:11133753 PMID:16199547 PMID:16470591 PMID:17666371 More... NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797 		JBrowse link
Congenital Amegakaryocytic Thrombocytopenia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: Amegakaryocytic thrombocytopenia, congenital, 2 OMIM
ClinVar		 PMID:24085763 PMID:28559357 PMID:29191945 PMID:36226497 Ensembl chr11:80,182,820...80,188,167 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    physical disorder 4884
      congenital amegakaryocytic thrombocytopenia 2
        Congenital Amegakaryocytic Thrombocytopenia 1 1
        Congenital Amegakaryocytic Thrombocytopenia 2 1
Path 2
Term Annotations click to browse term
  disease 21112
    disease of anatomical entity 18151
      Hemic and Lymphatic Diseases 0
        hematopoietic system disease 3314
          blood coagulation disease 939
            hemorrhagic disease 894
              blood platelet disease 357
                thrombocytopenia 270
                  congenital amegakaryocytic thrombocytopenia 2
                    Congenital Amegakaryocytic Thrombocytopenia 1 1
                    Congenital Amegakaryocytic Thrombocytopenia 2 1
paths to the root