Send us a Message

Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   


RGD uses the Human Disease Ontology (DO, 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:Stankiewicz-Isidor Syndrome
go back to main search page
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.
Synonyms:exact_synonym: STISS
 primary_id: OMIM:617516
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
Stankiewicz-Isidor Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmd12 proteasome 26S subunit, non-ATPase 12 ISO ClinVar Annotator: match by term: Stankiewicz-Isidor syndrome OMIM
PMID:25741868 PMID:28132691 NCBI chr10:92,438,223...92,457,323
Ensembl chr10:92,438,298...92,457,287
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    syndrome 9745
      Stankiewicz-Isidor Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13207
        central nervous system disease 11364
          brain disease 10660
            disease of mental health 7549
              Neurodevelopmental Disorders 6204
                Stankiewicz-Isidor Syndrome 1
paths to the root