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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:erythroleukemia
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Accession:DOID:0080916 term browser browse the term
Definition:An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow. (DO)
Synonyms:exact_synonym: Acute Erythroblastic Leukemia;   Di Guglielmo Disease;   Di Guglielmo's Disease;   Di Guglielmos Disease;   Erythremic Myeloses;   Erythremic Myelosis;   Erythroleukemias;   acute erythroblastic leukemias;   acute myeloid leukemia, M6
 primary_id: MESH:D004915
 alt_id: DOID:9002149
 xref: EFO:1001257;   EFO:1001955;   NCI:C135722;   NCI:C7152


show annotations for term's descendants           Sort by:
erythroleukemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr2A:27,218,699...27,245,156
Ensembl chr2A:27,306,527...27,332,804 		JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr16:52,977,879...52,994,496
Ensembl chr16:71,854,238...71,870,673 		JBrowse link
G UMPS uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 3:121,832,758...121,851,707
Ensembl chr 3:128,731,355...128,745,029 		JBrowse link
Acute Erythroleukemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDX41 DEAD-box helicase 41 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr 5:172,812,755...172,818,217
Ensembl chr 5:179,873,626...179,884,402 		JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr13:9,283,747...9,381,553
Ensembl chr13:27,627,178...27,723,940 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO mRNA:increased expression:bone marrow cell: RGD PMID:17156408 RGD:11040507 NCBI chr 9:104,061,236...104,113,208
Ensembl chr 9:132,692,343...132,742,326 		JBrowse link
G HOXB9 homeobox B9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr17:8,910,421...8,916,128
Ensembl chr17:9,095,438...9,100,747 		JBrowse link
G KMT2A lysine methyltransferase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr11:113,273,198...113,364,404
Ensembl chr11:117,204,820...117,290,100 		JBrowse link
G NPM1 nucleophosmin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr 5:166,735,904...166,756,321
Ensembl chr 5:173,490,197...173,510,656 		JBrowse link
G NUP98 nucleoporin 98 and 96 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr11:3,553,379...3,669,367
Ensembl chr11:3,661,568...3,767,443 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of cellular proliferation 7241
      cancer 5236
        organ system cancer 5002
          hematologic cancer 989
            bone marrow cancer 480
              myeloid neoplasm 293
                erythroleukemia 12
                  Acute Erythroleukemia 9
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15262
      Hemic and Lymphatic Diseases 3708
        hematopoietic system disease 3225
          Hematologic Neoplasms 989
            hematologic cancer 989
              leukemia 591
                myeloid leukemia 390
                  acute myeloid leukemia 321
                    acute erythroid leukemia 12
                      erythroleukemia 12
                        Acute Erythroleukemia 9
paths to the root