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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:Shaheen Syndrome
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Accession:DOID:9001463 term browser browse the term
Synonyms:exact_synonym: SHNS
 primary_id: OMIM:615328;   RDO:9000904


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Shaheen Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog6 component of oligomeric golgi complex 6 ISO ClinVar Annotator: match by term: Shaheen syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23606727 PMID:24033266 More... NCBI chr 2:137,062,127...137,099,176
Ensembl chr 2:137,061,346...137,099,190 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      Shaheen Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      nervous system disease 13996
        central nervous system disease 12287
          brain disease 11531
            disease of mental health 8203
              developmental disorder of mental health 5446
                specific developmental disorder 4430
                  intellectual disability 4243
                    Shaheen Syndrome 1
paths to the root