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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:0081126 term browser browse the term
Definition:A syndrome that is 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 and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11. (DO)
Synonyms:exact_synonym: DESSH;   Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion;   Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation;   WAC-RELATED CONDITION;   WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome;   developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities
 narrow_synonym: chromosome 10p12-p11 deletion syndrome
 primary_id: MIM:616708
 alt_id: DOID:9006965
 xref: ORDO:284169;   ORDO:466943;   ORDO:466950


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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: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, FACIAL DYSMORPHISM, AND OCULAR ABNORMALITIES | ClinVar Annotator: match by term: DeSanto-Shinawi syndrome | ClinVar Annotator: match by term: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | ClinVar Annotator: match by term: WAC-related condition OMIM
ClinVar		 PMID:23033978 PMID:25741868 PMID:26264232 PMID:26757981 PMID:28191890 More... NCBI chr17:55,922,686...55,984,286
Ensembl chr17:55,923,123...55,982,301 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    syndrome 11171
      DeSanto-Shinawi syndrome 1
Path 2
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      nervous system disease 14221
        central nervous system disease 12556
          brain disease 11776
            disease of mental health 8368
              Neurodevelopmental Disorders 6894
                Developmental Disabilities 775
                  DeSanto-Shinawi syndrome 1
paths to the root