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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 SHROOM4 on chromosome Xp11.22. (DO)
Synonyms:exact_synonym: Mental retardation, Stocco dos Santos type;   SDSX;   Stocco dos Santos Syndrome;   Stocco dos Santos X-linked mental retardation syndrome;   X-linked mental retardation, Stocco Dos Santos type
 primary_id: MESH:C537495
 alt_id: OMIM:300434
 xref: ORDO:85288
For additional species annotation, visit the Alliance of Genome Resources.

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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 Shroom4 shroom family member 4 ISO ClinVar Annotator: match by OMIM:300434
ClinVar Annotator: match by term: Stocco dos Santos syndrome
ClinVar Annotator: match by term: Mental retardation, Stocco dos Santos type		 OMIM
ClinVar		 PMID:12673656 PMID:16249884 PMID:25741868 PMID:26740508 NCBI chr  X:16,723,360...16,929,829
Ensembl chr  X:16,719,803...16,929,907 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      Stocco Dos Santos type X-linked intellectual disability 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            disease of mental health 5980
              developmental disorder of mental health 3114
                specific developmental disorder 2316
                  intellectual disability 2163
                    syndromic intellectual disability 692
                      Mental Retardation, X-Linked 669
                        syndromic X-linked intellectual disability 589
                          Stocco Dos Santos type X-linked intellectual disability 1
paths to the root