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RGD uses the Human Disease Ontology (DO, 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:Ruijs-Aalfs syndrome
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Accession:DOID:0111264 term browser browse the term
Definition:A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in SPRTN on 1q42.2. (DO)
Synonyms:exact_synonym: RJALS;   progeroid features-hepatocellular carcinoma predisposition syndrome
 primary_id: OMIM:616200
 xref: ORDO:435953
For additional species annotation, visit the Alliance of Genome Resources.

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Ruijs-Aalfs syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sprtn SprT-like N-terminal domain ISO ClinVar Annotator: match by term: Progeroid features-hepatocellular carcinoma predisposition syndrome OMIM
PMID:12503110 PMID:25261934 PMID:25741868 NCBI chr19:52,857,599...52,864,864
Ensembl chr19:52,857,866...52,864,864
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      Ruijs-Aalfs syndrome 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      gastrointestinal system disease 6494
        Gastrointestinal Diseases 4623
          Gastrointestinal Neoplasms 3472
            gastrointestinal system cancer 2704
              hepatobiliary system cancer 960
                liver cancer 892
                  liver carcinoma 839
                    hepatocellular carcinoma 835
                      Ruijs-Aalfs syndrome 1
paths to the root