Term Name: Ruijs-Aalfs syndrome
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 )

Relationships
is a type of: autosomal recessive disease syndrome