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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 4
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Accession:DOID:9007567 term browser browse the term
Definition:Characterized by a constellation of congenital anomalies, including dysmorphic craniofacial features and structural brain anomalies, such as Dandy-Walker malformation, hindbrain malformations, or agenesis of the corpus callosum, associated with global developmental delay and impaired intellectual development. Caused by heterozygous mutation in the DPYSL5 gene on chromosome 2p23. (OMIM)
Synonyms:exact_synonym: RTSC4
 primary_id: MIM:619435



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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 chr 6:25,575,104...25,659,422 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 4 1
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14664
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13712
        Congenital Abnormalities 7885
          Cardiovascular Abnormalities 1608
            congenital heart disease 1406
              heart septal defect 223
                atrial heart septal defect 128
                  Ritscher-Schinzel syndrome 4
                    Ritscher-Schinzel Syndrome 4 1
paths to the root