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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:Desanto-Shinawi Syndrome
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Accession:DOID:9006965 term browser browse the term
Definition:DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes. (OMIM)
Synonyms:exact_synonym: DESSH;   developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities
 narrow_synonym: chromosome 10p12-p11 deletion syndrome
 primary_id: OMIM:616708
For additional species annotation, visit the Alliance of Genome Resources.


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Desanto-Shinawi Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wac WW domain containing adaptor with coiled-coil ISO ClinVar Annotator: match by term: DESANTO-SHINAWI SYNDROME
ClinVar Annotator: match by term: Desanto-shinawi syndrome
ClinVar
OMIM
PMID:21522184, PMID:23033978, PMID:25356899, PMID:25741868, PMID:26264232, PMID:26325558, PMID:26757981, PMID:29190062 NCBI chr17:60,887,606...60,946,630
Ensembl chr17:60,888,017...60,946,426
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Desanto-Shinawi 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
              Neurodevelopmental Disorders 4556
                Developmental Disabilities 641
                  Desanto-Shinawi 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.