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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: OMIM:300434
 xref: ORDO:85288


show annotations for term's descendants           Sort by:
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:15,435,391...15,445,684
Ensembl chr  X:15,435,410...15,445,684 		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:16,169,123...16,174,187
Ensembl chr  X:16,169,123...16,174,187 		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:15,478,050...15,543,292
Ensembl chr  X:15,478,065...15,542,885 		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:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		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:15,581,991...15,713,814
Ensembl chr  X:15,583,572...15,712,987 		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:59,587,237...59,589,758
Ensembl chr  X:59,587,276...59,594,162 		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:59,422,715...59,429,381
Ensembl chr  X:59,422,717...59,429,364 		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:15,258,778...15,258,857
Ensembl chr  X:15,258,768...15,258,859 		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:15,247,315...15,247,393
Ensembl chr  X:15,247,315...15,247,393 		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:16,326,775...16,333,396
Ensembl chr  X:16,326,598...16,333,145 		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:15,869,065...16,076,850
Ensembl chr  X:15,869,065...16,076,869 		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:698,867...715,891
Ensembl chr  X:698,882...715,907 		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:15,123,620...15,126,855
Ensembl chr  X:15,124,596...15,125,912 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      Stocco Dos Santos type X-linked intellectual disability 13
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            disease of mental health 8318
              developmental disorder of mental health 5554
                specific developmental disorder 4517
                  intellectual disability 4299
                    X-Linked Intellectual Developmental Disorders 808
                      syndromic X-linked intellectual disability 618
                        Stocco Dos Santos type X-linked intellectual disability 13
paths to the root