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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:Monosomy 7 Myelodysplasia and Leukemia Syndrome
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Accession:DOID:9009254 term browser browse the term
Synonyms:xref: MIM:PS252270



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Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd9l sterile alpha motif domain containing 9 like ISO ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 1 | ClinVar Annotator: match by term: Monosomy 7 of bone marrow OMIM
ClinVar
PMID:2569483 PMID:25741868 PMID:27259050 PMID:28202457 PMID:28492532 More... NCBI chr 4:31,362,054...31,376,412
Ensembl chr 4:31,361,669...31,376,415
JBrowse link
Monosomy 7 Myelodysplasia and Leukemia Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd9 sterile alpha motif domain containing 9 ISO ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 2 OMIM
ClinVar
PMID:2569483 PMID:25741868 PMID:28346228 PMID:28487541 PMID:28492532 More... NCBI chr 4:31,164,639...31,184,278
Ensembl chr 4:31,164,510...31,184,322
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    syndrome 11179
      myelodysplastic syndrome 243
        Monosomy 7 Myelodysplasia and Leukemia Syndrome 2
          Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 1
          Monosomy 7 Myelodysplasia and Leukemia Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 19055
    disease of anatomical entity 18391
      Hemic and Lymphatic Diseases 4042
        hematopoietic system disease 3530
          Hematologic Neoplasms 1091
            hematologic cancer 1091
              leukemia 666
                myeloid leukemia 457
                  acute myeloid leukemia 385
                    Monosomy 7 Myelodysplasia and Leukemia Syndrome 2
                      Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 1
                      Monosomy 7 Myelodysplasia and Leukemia Syndrome 2 1
paths to the root