About   Help   FAQ
Disease Ontology Browser
Ruijs-Aalfs syndrome (DOID:0111264)
Alliance: disease page
Synonyms: progeroid features-hepatocellular carcinoma predisposition syndrome
Alt IDs: OMIM:616200, ORDO:435953
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Copyright, and Privacy Statement
Send questions and comments to User Support.
last database update
01/24/2023
MGI 6.22
The Jackson Laboratory