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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
 alt_id: OMIM:604498;   RDO:0001376
 xref: GARD:640;   NCI:C115207;   ORDO:3319
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:604498
ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia
OMIM
ClinVar
PMID:8073287, PMID:10077649, PMID:10971406, PMID:11071383, PMID:11133753, PMID:11392330, PMID:11972523, PMID:15269348, PMID:15531462, PMID:16219544, PMID:16470591, PMID:16834459, PMID:16868251, PMID:17054430, PMID:17666371, PMID:18240171, PMID:18422784, PMID:19036112, PMID:19302922, PMID:20188141, PMID:21162090, PMID:21225925, PMID:21228398, PMID:21489838, PMID:21659346, PMID:22180433, PMID:22389068, PMID:23103231, PMID:23625800, PMID:24033266, PMID:24119002, PMID:24438083, PMID:24728327, PMID:25538044, PMID:25741868, PMID:26854587, PMID:27418648, PMID:27449473, PMID:28492532, PMID:28697167, PMID:28859041, PMID:29384262, PMID:31064749, PMID:32581362 NCBI chr 5:137,268,412...137,282,032
Ensembl chr 5:137,269,480...137,281,298
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      hematopoietic system disease 1643
        hemorrhagic disease 610
          blood platelet disease 291
            thrombocytopenia 217
              congenital amegakaryocytic thrombocytopenia 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Hemic and Lymphatic Diseases 2047
        hematopoietic system disease 1643
          blood coagulation disease 623
            hemorrhagic disease 610
              blood platelet disease 291
                thrombocytopenia 217
                  congenital amegakaryocytic thrombocytopenia 1
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.