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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: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



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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
ClinVar
PMID:12503110 PMID:25261934 PMID:25741868 NCBI chr 1:206,889,897...206,906,047
Ensembl chr 1:211,914,082...211,931,093
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18006
    syndrome 10118
      Ruijs-Aalfs syndrome 1
Path 2
Term Annotations click to browse term
  disease 18006
    disease of cellular proliferation 7246
      Neoplasms by Site 6702
        Digestive System Neoplasms 3683
          Gastrointestinal Neoplasms 3564
            gastrointestinal system cancer 2799
              hepatobiliary system cancer 1019
                liver cancer 936
                  liver carcinoma 881
                    hepatocellular carcinoma 879
                      Ruijs-Aalfs syndrome 1
paths to the root