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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:gene duplication disease
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Accession:DOID:0080712 term browser browse the term
Definition:A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene. (DO)
Synonyms:exact_synonym: gene duplication syndrome
For additional species annotation, visit the Alliance of Genome Resources.


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MECP2 duplication syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:1057790 PMID:1241840 PMID:8177735 PMID:9546328 PMID:10508514 More... NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            gene duplication disease 1
              MECP2 duplication syndrome 1
              hereditary alpha tryptasemia syndrome 0
paths to the root