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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 14759
    syndrome 4210
      STANKIEWICZ-ISIDOR SYNDROME 1
Path 2
Term Annotations click to browse term
  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
                STANKIEWICZ-ISIDOR SYNDROME 1
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