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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: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
ClinVar
PMID:32021605, PMID:32275884 NCBI chr 3:8,852,271...8,908,608
Ensembl chr 3:8,873,933...8,908,438
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Sandestig-Stefanova Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        Sandestig-Stefanova 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.