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ONTOLOGY REPORT - ANNOTATIONS


Term:Chromosome Xq26.3 Duplication Syndrome
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Accession:DOID:9007823 term browser browse the term
Definition:A syndrome due to microduplications of chromosome Xq26.3, characterized by excessive growth, usually beginning during the first year of life in previously normal infants. (OMIM)
Synonyms:exact_synonym: CHROMOSOME Xq26 MICRODUPLICATION SYNDROME;   X-LINKED ACROGIGANTISM;   XLAG
 primary_id: OMIM:300942
 alt_id: RDO:9001225
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Chromosome Xq26.3 Duplication Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 JBrowse link X 159,722,031 159,841,344 RGD:8554872
G Brs3 bombesin receptor subtype 3 JBrowse link X 159,484,953 159,510,944 RGD:8554872
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:8554872
G Gpr101 G protein-coupled receptor 101 JBrowse link X 140,296,220 140,303,743 RGD:8554872
G Htatsf1 HIV-1 Tat specific factor 1 JBrowse link X 159,514,053 159,528,281 RGD:8554872
G Rbmx RNA binding motif protein, X-linked JBrowse link X 159,881,835 159,891,405 RGD:8554872
G Vgll1 vestigial-like family member 1 JBrowse link X 159,556,296 159,576,639 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    syndrome 5791
      chromosomal duplication syndrome 110
        Chromosome Xq26.3 Duplication Syndrome 7
Path 2
Term Annotations click to browse term
  disease 15609
    Developmental Diseases 8986
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7802
        genetic disease 7293
          chromosomal disease 882
            chromosomal duplication syndrome 110
              Chromosome Xq26.3 Duplication Syndrome 7
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.