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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
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Accession:DOID:0060565 term browser browse the term
Definition:A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. (DO)
Synonyms:exact_synonym: 3C syndrome;   CCC dysplasia;   Craniocerebellocardiac dysplasia;   Dandy-Walker-like malformation with atrioventricular septal defect;   RTSC
 primary_id: MESH:C535313
 xref: OMIM:PS220210;   ORDO:7

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Ritscher-Schinzel syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc22 coiled-coil domain containing 22 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955543:719,185...731,788
Ensembl chrNW_004955543:718,996...733,753 		JBrowse link
G Washc5 WASH complex subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955461:145,993...199,274
Ensembl chrNW_004955461:145,993...199,903 		JBrowse link
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 chrNW_004955543:719,185...731,788
Ensembl chrNW_004955543:718,996...733,753 		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 chrNW_004955469:8,838,167...8,920,991
Ensembl chrNW_004955469:8,838,888...8,922,388 		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 chrNW_004955461:145,993...199,274
Ensembl chrNW_004955461:145,993...199,903 		JBrowse link
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 chrNW_004955543:719,185...731,788
Ensembl chrNW_004955543:718,996...733,753 		JBrowse link
Ritscher-Schinzel Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps35l VPS35 endosomal protein sorting factor like ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 3 OMIM
ClinVar		 PMID:31712251 NCBI chrNW_004955442:3,292,748...3,415,911
Ensembl chrNW_004955442:3,265,989...3,415,911 		JBrowse link
Ritscher-Schinzel Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpysl5 dihydropyrimidinase like 5 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 4 OMIM
ClinVar		 PMID:3812597 PMID:25741868 PMID:31474318 PMID:33894126 NCBI chrNW_004955469:8,838,167...8,920,991
Ensembl chrNW_004955469:8,838,888...8,922,388 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9327
      Dandy-Walker syndrome 28
        Ritscher-Schinzel syndrome 4
          Ritscher-Schinzel Syndrome 3 1
          Ritscher-Schinzel Syndrome 4 1
          Ritscher-Schinzel syndrome 1 3
          Ritscher-Schinzel syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            cerebral degeneration 598
              hydrocephalus 161
                Dandy-Walker syndrome 28
                  Ritscher-Schinzel syndrome 4
                    Ritscher-Schinzel Syndrome 3 1
                    Ritscher-Schinzel Syndrome 4 1
                    Ritscher-Schinzel syndrome 1 3
                    Ritscher-Schinzel syndrome 2 1
paths to the root