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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: RTSC2
 primary_id: OMIM:300963
For additional species annotation, visit the Alliance of Genome Resources.


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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: RITSCHER-SCHINZEL SYNDROME 2
ClinVar Annotator: match by term: Ritscher-schinzel syndrome 2
OMIM
ClinVar
PMID:19377476 PMID:21826058 PMID:24916641 PMID:25741868 NCBI chr  X:15,742,978...15,754,925
Ensembl chr  X:15,742,978...15,754,925
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    syndrome 7073
      Dandy-Walker syndrome 30
        Ritscher-Schinzel syndrome 4
          Ritscher-Schinzel syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        central nervous system disease 9126
          brain disease 8438
            disease of mental health 6024
              developmental disorder of mental health 3164
                specific developmental disorder 2345
                  intellectual disability 2193
                    Ritscher-Schinzel syndrome 2 1
paths to the root