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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: RUIJS-AALFS SYNDROME
ClinVar Annotator: match by OMIM:616200
PMID:12503110 PMID:25261934 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 17207
    syndrome 8126
      Ruijs-Aalfs syndrome 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      gastrointestinal system disease 6059
        Gastrointestinal Diseases 4144
          Gastrointestinal Neoplasms 3305
            gastrointestinal system cancer 2525
              hepatobiliary system cancer 848
                liver cancer 782
                  liver carcinoma 767
                    hepatocellular carcinoma 763
                      Ruijs-Aalfs syndrome 1
paths to the root