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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:Sandestig-Stefanova Syndrome
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Accession:DOID:9008661 term browser browse the term
Synonyms:exact_synonym: SANDSTEF
 primary_id: OMIM:618804
For additional species annotation, visit the Alliance of Genome Resources.

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Sandestig-Stefanova Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup188 nucleoporin 188 ISO ClinVar Annotator: match by term: SANDESTIG-STEFANOVA SYNDROME OMIM
PMID:32021605 PMID:32275884 NCBI chr 3:13,559,917...13,616,313
Ensembl chr 3:13,559,990...13,616,307
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Sandestig-Stefanova Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Sandestig-Stefanova Syndrome 1
paths to the root