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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:Sex Chromosome Aberrations
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Accession:DOID:9003307 term browser browse the term
Definition:Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.
Synonyms:exact_synonym: Sex Chromosome Aberration;   Sex Chromosome Abnormalities;   Sex Chromosome Abnormality
 primary_id: MESH:D012729;   RDO:0000144
For additional species annotation, visit the Alliance of Genome Resources.


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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 stromal antigen 2 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
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Term Annotations click to browse term
  disease 20988
    Pathological Conditions, Signs and Symptoms 13308
      Pathologic Processes 8243
        Chromosome Aberrations 2469
          Sex Chromosome Aberrations 6
            49,XXXXX Syndrome 0
            Chromosome Xq Duplication Syndrome 0
            Male Sterility due to Y-Chromosome Deletions 0
            Tetrasomy X 0
            Triple X Syndrome 0
            X Chromosome, Duplication Xq13 1 q21 1 0
            X Chromosome, Monosomy Xp22 pter 0
            X Chromosome, Monosomy Xq28 0
            X Chromosome, Trisomy Xp3 0
            X Chromosome, Trisomy Xpter Xq13 0
            X Chromosome, Trisomy Xq25 6
            XYY Karyotype + 0
            Young Hughes Syndrome 0
paths to the root