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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:atypical chronic myeloid leukemia
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Accession:DOID:0060597 term browser browse the term
Definition:A myelodysplastic/myeloproliferative disorder characterized by myelodysplasia associated with bone marrow and peripheral blood patterns similar to CHRONIC MYELOID LEUKEMIA, but cytogenetically lacking a PHILADELPHIA CHROMOSOME or bcr/abl fusion gene (GENES, ABL). (DO)
Synonyms:exact_synonym: Ph1-negative myelogenous leukemia;   Ph1-negative myelogenous leukemias;   Ph1-negative myeloid leukemia;   Ph1-negative myeloid leukemias;   Philadelphia-negative myeloid leukemia;   Philadelphia-negative myeloid leukemias;   aCML;   atypical CML;   atypical chronic myeloid leukaemia;   atypical chronic myeloid leukaemia BCR-ABL1 negative;   atypical chronic myeloid leukemia BCR-ABL1 negative;   subacute myeloid leukemia
 primary_id: MESH:D054438
 alt_id: DOID:8747
 xref: ICD10CM:C92.2;   ICD9CM:205.2;   NCI:C3176;   NCI:C3519;   ORDO:98824


show annotations for term's descendants           Sort by:
atypical chronic myeloid leukemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative ClinVar NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:15050920 RGD:11352668 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Mfsd11 major facilitator superfamily domain containing 11 ISO ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative ClinVar NCBI chr10:102,055,516...102,075,064
Ensembl chr10:102,056,051...102,075,064 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative ClinVar NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Setbp1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23222956 NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556 		JBrowse link
G Srsf2 serine and arginine rich splicing factor 2 ISO ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative ClinVar NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative ClinVar PMID:22905207 PMID:28492532 NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      hematopoietic system disease 3344
        bone marrow disease 776
          myelodysplastic/myeloproliferative neoplasm 30
            atypical chronic myeloid leukemia 7
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Hemic and Lymphatic Diseases 3853
        hematopoietic system disease 3344
          Hematologic Neoplasms 1044
            Bone Marrow Neoplasms 508
              bone marrow cancer 508
                myeloid neoplasm 325
                  myelodysplastic/myeloproliferative neoplasm 30
                    atypical chronic myeloid leukemia 7
paths to the root