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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:MECP2 duplication syndrome
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Accession:DOID:0080713 term browser browse the term
Definition:A syndrome that has_material_basis_in an extra copy of the MECP2 gene in each cell, occurs almost exclusively in males and that is characterized by delayed development of motor skills such as sitting and walking. (DO)
Synonyms:xref: GARD:9781
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 18030
    syndrome 9456
      MECP2 duplication syndrome 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            gene duplication disease 1
              MECP2 duplication syndrome 1
paths to the root