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: acute monocytic leukemia
Accession: DOID:8864
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Definition: A monocytic leukemia where the majority of monocytic cells are promonocytes. (DO)
Synonyms: exact_synonym: Acute Monoblastic Leukemias; Myeloid Leukemia, Acute, M5; Schilling-type myeloid leukemia; acute monoblastic leukemia; acute monoblastic leukemia and acute monocytic leukemia; acute monocytic leukaemia; acute monocytic leukaemia without mention of remission; acute monocytic leukemia without mention of remission; acute monocytic leukemia, FAB M5; acute monocytic leukemia, morphology; acute monocytic leukemias
narrow_synonym: childhood acute monocytic leukemia
primary_id: MESH:D007948
alt_id: OMIM:151380
xref: EFO:0000221 ; EFO:1001944 ; GARD:525 ; ICD9CM:206.0 ; NCI:C7171
For additional species annotation, visit the
Alliance of Genome Resources .
G
Dnmt3a
DNA methyltransferase 3 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399634
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
G
Kmt2a
lysine methyltransferase 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8282816
NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
G
Mllt10
MLLT10, histone lysine methyltransferase DOT1L cofactor
ISO
RGD
PMID:7662954
RGD:1598771
NCBI chr17:80,821,870...80,949,349
Ensembl chr17:80,822,556...80,949,345
G
Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Acute monocytic leukemia
ClinVar
PMID:25741868 PMID:28492532 PMID:29290338 PMID:33471991
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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