Ruijs-Aalfs syndrome

Term ID

DOID:0111264

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. https://www.ncbi.nlm.nih.gov/pubmed/25261934

References

• OMIM:616200
• ORDO:435953

Ontology

Human Disease   ( DOID:0111264 )