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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 3
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Accession:DOID:9008236 term browser browse the term
Synonyms:exact_synonym: RTSC3;   VPS35L-RELATED CONDITION
 xref: MIM:619135;   MONDO:0030864



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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 | ClinVar Annotator: match by term: VPS35L-related condition OMIM
ClinVar
PMID:25741868 PMID:31712251 PMID:36113987 NCBI chr 1:173,076,219...173,179,663
Ensembl chr 1:173,076,099...173,180,610
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    syndrome 11372
      Dandy-Walker syndrome 32
        Ritscher-Schinzel syndrome 4
          Ritscher-Schinzel Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 19141
    Developmental Disease 14667
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13715
        Congenital Abnormalities 7887
          Cardiovascular Abnormalities 1608
            congenital heart disease 1406
              heart septal defect 223
                atrial heart septal defect 128
                  Ritscher-Schinzel syndrome 4
                    Ritscher-Schinzel Syndrome 3 1
paths to the root