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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:Stocco Dos Santos type X-linked intellectual disability
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Accession:DOID:0112126 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in the SHROOM4 gene on chromosome Xp11.22. (DO)
Synonyms:exact_synonym: MRXSDS;   SDSX;   Stocco dos Santos Syndrome;   Stocco dos Santos X-linked mental retardation syndrome;   X-linked mental retardation, Stocco Dos Santos type;   mental retardation, Stocco dos Santos type;   syndromic X-linked intellectual developmental disorder, Stocco dos Santos type
 primary_id: MESH:C537495
 alt_id: MIM:300434
 xref: ORDO:85288


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Stocco Dos Santos type X-linked intellectual disability term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:18,107,256...18,117,549
Ensembl chr  X:18,107,275...18,117,549 		JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:18,840,943...18,846,006
Ensembl chr  X:18,840,829...18,847,438 		JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:18,149,915...18,214,801
Ensembl chr  X:18,149,915...18,214,801 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:17,857,260...18,011,844
Ensembl chr  X:17,857,260...18,011,844 		JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:18,253,849...18,385,805
Ensembl chr  X:18,256,463...18,385,640 		JBrowse link
G Gspt2 G1 to S phase transition 2 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:63,582,649...63,597,467
Ensembl chr  X:63,582,690...63,700,401 		JBrowse link
G Maged1 MAGE family member D1 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:63,416,464...63,423,167
Ensembl chr  X:63,416,466...63,423,112 		JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:17,930,647...17,930,726
Ensembl chr  X:17,930,637...17,930,728 		JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:17,919,185...17,919,263
Ensembl chr  X:17,919,185...17,919,263 		JBrowse link
G Nudt11 nudix hydrolase 11 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:18,998,587...19,005,208
Ensembl chr  X:18,998,461...19,005,208 		JBrowse link
G Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:12673656 PMID:16249884 PMID:18414213 PMID:23757202 PMID:23871722 More... NCBI chr  X:18,537,371...18,748,665
Ensembl chr  X:18,540,913...18,748,700 		JBrowse link
G Ssx2 SSX family member 2 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:3,251,831...3,268,853
Ensembl chr  X:3,251,850...3,268,968 		JBrowse link
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:17,795,506...17,798,741
Ensembl chr  X:17,794,884...17,798,879 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    syndrome 11437
      Stocco Dos Santos type X-linked intellectual disability 13
Path 2
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18459
      nervous system disease 14371
        central nervous system disease 12649
          brain disease 11869
            disease of mental health 8487
              developmental disorder of mental health 5666
                specific developmental disorder 4642
                  intellectual disability 4408
                    X-Linked Intellectual Developmental Disorders 828
                      syndromic X-linked intellectual disability 619
                        Stocco Dos Santos type X-linked intellectual disability 13
paths to the root