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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
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
ClinVar
OMIM
PMID:12503110, PMID:25261934 NCBI chr19:57,649,901...57,657,158
Ensembl chr19:57,650,163...57,654,864
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Ruijs-Aalfs syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      gastrointestinal system disease 4621
        Digestive System Neoplasms 1911
          Gastrointestinal Neoplasms 1771
            gastrointestinal system cancer 1272
              hepatobiliary system cancer 790
                liver cancer 735
                  liver carcinoma 718
                    hepatocellular carcinoma 714
                      Ruijs-Aalfs syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.