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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    syndrome 5224
      STANKIEWICZ-ISIDOR SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            disease of mental health 5552
              Neurodevelopmental Disorders 4095
                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.