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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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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:23606727, PMID:25558065, PMID:25741868, PMID:26260076 NCBI chr 2:142,197,566...142,235,054
Ensembl chr 2:142,196,754...142,235,066
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Shaheen 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
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    Shaheen 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.