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Term:Ruijs-Aalfs syndrome
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Accession:DOID:0111264 term browser browse the term
Definition:An autosomal recessive disease 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
 alt_id: DOID:9003467;   RDO:9000333
 xref: ORDO:435953
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Ruijs-Aalfs syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sprtn SprT-like N-terminal domain JBrowse link 19 57,649,901 57,657,158 RGD:8554872

Term paths to the root
Path 1
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  disease 15599
    syndrome 5135
      Ruijs-Aalfs syndrome 1
Path 2
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  disease 15599
    disease of anatomical entity 14927
      gastrointestinal system disease 4369
        Gastrointestinal Diseases 2462
          Gastrointestinal Neoplasms 1825
            gastrointestinal system cancer 1132
              hepatobiliary system cancer 724
                liver cancer 669
                  liver carcinoma 656
                    hepatocellular carcinoma 656
                      Ruijs-Aalfs syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.