Term Name: | Ruijs-Aalfs syndrome |
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Synonyms: | progeroid features-hepatocellular carcinoma predisposition syndrome |
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. |
Ontology: | Human Disease [DOID:0111264] ( DOID:0111264 ) |