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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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
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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 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 ClinVar
OMIM
PMID:25741868, PMID:28132691 NCBI chr10:95,706,808...95,725,452
Ensembl chr10:95,706,685...95,725,812
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      STANKIEWICZ-ISIDOR SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              Neurodevelopmental Disorders 4582
                STANKIEWICZ-ISIDOR SYNDROME 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.