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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:Familial Myelofibrosis
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Accession:DOID:9006561 term browser browse the term
Synonyms:narrow_synonym: Myelofibrosis With Myeloid Metaplasia, Somatic
 primary_id: MESH:C536848;   RDO:0002557
For additional species annotation, visit the Alliance of Genome Resources.



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Familial Myelofibrosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO RGD PMID:12149188 RGD:10450737 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530
JBrowse link
G Vps45 vacuolar protein sorting 45 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:23599270 NCBI chr 2:183,555,919...183,616,312
Ensembl chr 2:183,555,921...183,616,295
JBrowse link
Thrombocytopenia, Anemia, and Myelofibrosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpig6b megakaryocyte and platelet inhibitory receptor G6b ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS
ClinVar Annotator: match by term: Thrombocytopenia, anemia, and myelofibrosis
ClinVar
OMIM
PMID:25741868 PMID:27743390 NCBI chr20:3,757,396...3,761,024
Ensembl chr20:3,757,536...3,760,735
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of cellular proliferation 7054
      cancer 5018
        organ system cancer 4850
          hematologic cancer 969
            bone marrow cancer 469
              myeloid neoplasm 290
                myelofibrosis 26
                  Familial Myelofibrosis 3
                    Thrombocytopenia, Anemia, and Myelofibrosis 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Hemic and Lymphatic Diseases 2337
        hematopoietic system disease 1914
          Hematologic Neoplasms 969
            Bone Marrow Neoplasms 469
              bone marrow cancer 469
                myeloid neoplasm 290
                  myelofibrosis 26
                    Familial Myelofibrosis 3
                      Thrombocytopenia, Anemia, and Myelofibrosis 1
paths to the root