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ONTOLOGY REPORT - ANNOTATIONS


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 ABNORMALITIE
 narrow_synonym: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, FACIAL DYSMORPHISM, AND OCULAR ABNORMALITIES CHROMOSOME 10p12-p11 DELETION SYNDROME
 primary_id: OMIM:616708;   RDO:9001140
For additional species annotation, visit the Alliance of Genome Resources.


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Desanto-Shinawi Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wac WW domain containing adaptor with coiled-coil JBrowse link 17 60,887,606 60,946,630 RGD:8554872
RGD:11554173
RGD:7240710

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Path 1
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  disease 14759
    syndrome 4210
      Desanto-Shinawi Syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              Neurodevelopmental Disorders 2745
                Developmental Disabilities 342
                  Desanto-Shinawi Syndrome 1
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