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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:X Chromosome, Trisomy Xq25
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Accession:DOID:9003937 term browser browse the term
Synonyms:exact_synonym: Duplication Xq25;   Trisomy Xq25;   Xq25 duplication syndrome;   chromosome Xq25 duplication syndrome
 narrow_synonym: chromosome Xq25 triplication syndrome
 primary_id: MESH:C536733
 alt_id: OMIM:300979


show annotations for term's descendants           Sort by:
X Chromosome, Trisomy Xq25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO ClinVar Annotator: match by term: Xq25 duplication syndrome ClinVar NCBI chr  X:120,238,515...120,504,106
Ensembl chr  X:120,238,534...120,504,096 		JBrowse link
G Sh2d1a SH2 domain containing 1A ISO ClinVar Annotator: match by term: Xq25 duplication syndrome ClinVar NCBI chr  X:121,373,693...121,401,923 JBrowse link
G Stag2 STAG2 cohesin complex component ISO ClinVar Annotator: match by term: Xq25 duplication syndrome ClinVar NCBI chr  X:120,974,687...121,105,677
Ensembl chr  X:120,974,857...121,105,677 		JBrowse link
G Tenm1 teneurin transmembrane protein 1 ISO ClinVar Annotator: match by term: Xq25 duplication syndrome ClinVar NCBI chr  X:121,400,466...122,289,877
Ensembl chr  X:121,403,649...122,290,207 		JBrowse link
G Thoc2 THO complex subunit 2 ISO ClinVar Annotator: match by term: Xq25 duplication syndrome ClinVar NCBI chr  X:120,634,966...120,749,569
Ensembl chr  X:120,634,968...120,749,513 		JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO ClinVar Annotator: match by term: Xq25 duplication syndrome ClinVar NCBI chr  X:120,890,537...120,938,413
Ensembl chr  X:120,897,907...120,934,700 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21108
    syndrome 10708
      chromosomal duplication syndrome 1245
        Trisomy 369
          X Chromosome, Trisomy Xq25 6
Path 2
Term Annotations click to browse term
  disease 21108
    Developmental Disease 18429
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18284
        Congenital Abnormalities 7410
          chromosomal disease 2812
            chromosomal duplication syndrome 1245
              Trisomy 369
                X Chromosome, Trisomy Xq25 6
paths to the root