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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:Ritscher-Schinzel syndrome 2
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Accession:DOID:0060572 term browser browse the term
Definition:A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11. (DO)
Synonyms:exact_synonym: CCDC22-RELATED CONDITION;   RTSC2
 primary_id: OMIM:300963


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Ritscher-Schinzel syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: CCDC22-related condition | ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 2 OMIM
ClinVar		 PMID:19377476 PMID:21826058 PMID:23563313 PMID:24916641 PMID:25644381 More... NCBI chr  X:42,329,320...42,343,270
Ensembl chr  X:42,328,755...42,343,270 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    syndrome 10064
      Dandy-Walker syndrome 30
        Ritscher-Schinzel syndrome 4
          Ritscher-Schinzel syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        central nervous system disease 11844
          brain disease 11124
            disease of mental health 8067
              developmental disorder of mental health 5495
                specific developmental disorder 4468
                  intellectual disability 4275
                    Ritscher-Schinzel syndrome 2 1
paths to the root