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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)
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last database update
02/18/2020
MGI 6.14
The Jackson Laboratory