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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: MIM: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:125,103,975...125,369,690 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 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 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 JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO ClinVar Annotator: match by term: Xq25 duplication syndrome ClinVar NCBI chr  X:125,756,107...125,803,979 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11370
      chromosomal duplication syndrome 1291
        Trisomy 370
          X Chromosome, Trisomy Xq25 6
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14664
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13712
        Congenital Abnormalities 7885
          chromosomal disease 3182
            chromosomal duplication syndrome 1291
              Trisomy 370
                X Chromosome, Trisomy Xq25 6
paths to the root