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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: 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
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:15,869,065...16,076,850
Ensembl chr  X:15,869,065...16,076,869
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Stocco Dos Santos type X-linked intellectual disability 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    syndromic intellectual disability 759
                      Mental Retardation, X-Linked 718
                        syndromic X-linked intellectual disability 590
                          Stocco Dos Santos type X-linked intellectual disability 1
paths to the root