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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:10508514 PMID:10577905 PMID:10745042 PMID:10767337 PMID:10814718 PMID:10814719 PMID:10852707 PMID:10854091 PMID:10944834 PMID:10944854 PMID:10991688 PMID:10991689 PMID:11007980 PMID:11055898 PMID:11058114 PMID:11071498 PMID:11214906 PMID:11238684 PMID:11241840 PMID:11245712 PMID:11269512 PMID:11309367 PMID:11309679 PMID:11313756 PMID:11313764 PMID:11376998 PMID:11392517 PMID:11402105 PMID:11446411 PMID:11462237 PMID:11469283 PMID:11524741 PMID:11738860 PMID:11738864 PMID:11738866 PMID:11738879 PMID:11738883 PMID:11738885 PMID:11746022 PMID:11772708 PMID:11805248 PMID:11885030 PMID:11896459 PMID:11913567 PMID:11960578 PMID:12065946 PMID:12075485 PMID:12111643 PMID:12180070 PMID:12325019 PMID:12325033 PMID:12567420 PMID:12719401 PMID:12746405 PMID:12843318 PMID:12872250 PMID:12966523 PMID:14560307 PMID:14598336 PMID:15057977 PMID:15173251 PMID:15287421 PMID:15389714 PMID:15526954 PMID:15557528 PMID:15737703 PMID:15866439 PMID:16077729 PMID:16183801 PMID:16376510 PMID:16473305 PMID:16629931 PMID:16672765 PMID:16690727 PMID:16763963 PMID:16832102 PMID:16844334 PMID:16905679 PMID:17089071 PMID:17236109 PMID:17341617 PMID:17351020 PMID:17387578 PMID:17881312 PMID:17914728 PMID:17986102 PMID:18174548 PMID:18174559 PMID:18332345 PMID:18337588 PMID:18414213 PMID:18499664 PMID:18989701 PMID:19133691 PMID:19217433 PMID:19234536 PMID:19309269 PMID:19442733 PMID:19552836 PMID:19573459 PMID:19652677 PMID:19722030 PMID:19914908 PMID:20031356 PMID:20116947 PMID:20151026 PMID:20231667 PMID:20301670 PMID:20625242 PMID:20631224 PMID:20661168 PMID:21160487 PMID:21420494 PMID:21575601 PMID:21764336 PMID:21831886 PMID:21954873 PMID:21982064 PMID:22277191 PMID:22476991 PMID:22497713 PMID:22525432 PMID:23238081 PMID:23262346 PMID:23270700 PMID:23337872 PMID:23421866 PMID:23452848 PMID:23810759 PMID:23921973 PMID:24033266 PMID:24328834 PMID:24399845 PMID:25283752 PMID:25473036 PMID:25634563 PMID:25741868 PMID:26175308 PMID:26350204 PMID:26418480 PMID:26467025 PMID:26647311 PMID:26741492 PMID:27255190 PMID:27465203 PMID:27799067 PMID:27929079 PMID:28135719 PMID:28492532 PMID:28831199 PMID:29655203 PMID:30081849 PMID:30536762 PMID:30564305 PMID:30868116 PMID:30945278 PMID:31138832 PMID:32581362 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    syndrome 8039
      MECP2 duplication syndrome 1
Path 2
Term Annotations click to browse term
  disease 17150
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9451
        genetic disease 8954
          monogenic disease 7122
            gene duplication disease 1
              MECP2 duplication syndrome 1
paths to the root