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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 Syndrome
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Accession:DOID:9007291 term browser browse the term
Synonyms:exact_synonym: Mental Retardation, X-Linked, Stocco Dos Santos Type;   Mental retardation, Stocco dos Santos type;   SDSX;   Stocco dos Santos X-linked mental retardation syndrome
 primary_id: MESH:C537495;   RDO:0003344
 alt_id: OMIM:300434
For additional species annotation, visit the Alliance of Genome Resources.


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Stocco dos Santos Syndrome 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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Stocco dos Santos Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            disease of mental health 5993
              developmental disorder of mental health 3113
                specific developmental disorder 2287
                  intellectual disability 2107
                    syndromic intellectual disability 681
                      Mental Retardation, X-Linked 659
                        Stocco dos Santos Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.