ONTOLOGY REPORT - ANNOTATIONS


Term:STANKIEWICZ-ISIDOR SYNDROME
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Accession:DOID:9006298 term browser browse the term
Definition:A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems. (OMIM)
Synonyms:exact_synonym: STISS
 primary_id: OMIM:617516;   RDO:9001757
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STANKIEWICZ-ISIDOR SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psmd12 proteasome 26S subunit, non-ATPase 12 JBrowse link 10 95,706,808 95,725,452 RGD:8554872
RGD:7240710

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Path 1
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  disease 14823
    syndrome 4218
      STANKIEWICZ-ISIDOR SYNDROME 1
Path 2
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  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            disease of mental health 4323
              Neurodevelopmental Disorders 2755
                STANKIEWICZ-ISIDOR SYNDROME 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.