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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


show annotations for term's descendants           Sort by:
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 IAGP
EXP
ISS		 ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia
CTD Direct Evidence: marker/mechanism
OMIM:604498		 ClinVar
CTD
MouseDO		 PMID:971406 PMID:8073287 PMID:9536098 PMID:10077649 PMID:10971406 More... NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466 		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 IAGP OMIM NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466 		JBrowse link
Congenital Amegakaryocytic Thrombocytopenia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G THPO thrombopoietin IAGP ClinVar Annotator: match by term: Amegakaryocytic thrombocytopenia, congenital, 2 OMIM
ClinVar		 PMID:24085763 PMID:25741868 PMID:28492532 PMID:28559357 PMID:29191945 More... NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    physical disorder 7135
      congenital amegakaryocytic thrombocytopenia 2
        Congenital Amegakaryocytic Thrombocytopenia 1 1
        Congenital Amegakaryocytic Thrombocytopenia 2 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Hemic and Lymphatic Diseases 5702
        hematopoietic system disease 4987
          blood coagulation disease 1699
            hemorrhagic disease 1540
              blood platelet disease 627
                thrombocytopenia 423
                  congenital amegakaryocytic thrombocytopenia 2
                    Congenital Amegakaryocytic Thrombocytopenia 1 1
                    Congenital Amegakaryocytic Thrombocytopenia 2 1
paths to the root