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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:Chromosome Xq28 Duplication Syndrome
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Accession:DOID:9005521 term browser browse the term
Synonyms:exact_synonym: Gdi1 Duplication Syndrome
 broad_synonym: GDI1-RELATED CONDITION
 primary_id: MESH:C567580
 alt_id: MIM:300815


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Chromosome Xq28 Duplication Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,636,071...151,651,528
Ensembl chr  X:151,632,454...151,651,128 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,633,501...151,636,155
Ensembl chr  X:151,633,522...151,635,989 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,905,056...151,925,419
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,530,390...151,560,779
Ensembl chr  X:151,530,390...151,560,826 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,493,832...151,508,688
Ensembl chr  X:151,494,207...151,508,674 		JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,369,406...151,373,508
Ensembl chr  X:151,369,410...151,373,446 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,384,675...151,393,979
Ensembl chr  X:151,384,675...151,393,979 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,510,452...151,515,208
Ensembl chr  X:151,510,539...151,515,198 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,524,191...151,528,218
Ensembl chr  X:151,524,009...151,528,202 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    syndrome 11372
      chromosomal duplication syndrome 1291
        Chromosome Xq28 Duplication Syndrome 20
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        central nervous system disease 12630
          brain disease 11847
            disease of mental health 8443
              developmental disorder of mental health 5647
                specific developmental disorder 4611
                  intellectual disability 4384
                    Chromosome Xq28 Duplication Syndrome 20
paths to the root