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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 1
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Accession:DOID:0060571 term browser browse the term
Definition:A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24. (DO)
Synonyms:exact_synonym: RTSC1
 broad_synonym: WASHC5-RELATED CONDITION
 primary_id: MIM:220210



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Ritscher-Schinzel syndrome 1 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 1 ClinVar PMID:19377476 PMID:21826058 PMID:31971710 NCBI chr  X:14,898,296...14,910,244 JBrowse link
G Dpysl5 dihydropyrimidinase-like 5 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 ClinVar PMID:3812597 PMID:31474318 PMID:33894126 NCBI chr 6:25,575,104...25,659,422 JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 OMIM
ClinVar
PMID:7604842 PMID:24065355 PMID:24824269 PMID:25741868 PMID:26467025 More... NCBI chr 7:90,884,192...90,936,096 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11370
      Dandy-Walker syndrome 32
        Ritscher-Schinzel syndrome 4
          Ritscher-Schinzel syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      respiratory system disease 5242
        thoracic disease 4050
          heart disease 3477
            congenital heart disease 1406
              heart septal defect 223
                atrial heart septal defect 128
                  Ritscher-Schinzel syndrome 4
                    Ritscher-Schinzel syndrome 1 3
paths to the root