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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
 primary_id: OMIM:220210
For additional species annotation, visit the Alliance of Genome Resources.



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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:24916641 PMID:31971710 NCBI chr  X:14,898,296...14,910,244
Ensembl 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
Ensembl 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:25741868 PMID:28492532 PMID:31971710 NCBI chr 7:90,884,333...90,936,118
Ensembl chr 7:90,884,197...90,936,103
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      Dandy-Walker syndrome 30
        Ritscher-Schinzel syndrome 4
          Ritscher-Schinzel syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        Congenital Abnormalities 6765
          Cardiovascular Abnormalities 1260
            congenital heart disease 1198
              heart septal defect 182
                atrial heart septal defect 132
                  Ritscher-Schinzel syndrome 4
                    Ritscher-Schinzel syndrome 1 3
paths to the root