Send us a Message

Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   


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
go back to main search page
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

show annotations for term's descendants           Sort by:
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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    syndrome 10782
      Ruijs-Aalfs syndrome 1
Path 2
Term Annotations click to browse term
  disease 21086
    disease of cellular proliferation 7656
      Neoplasms by Site 7120
        Digestive System Neoplasms 3847
          Gastrointestinal Neoplasms 3722
            gastrointestinal system cancer 2919
              hepatobiliary system cancer 1114
                liver cancer 1031
                  liver carcinoma 971
                    hepatocellular carcinoma 967
                      Ruijs-Aalfs syndrome 1
paths to the root