| Metadata | |
|---|---|
| ID | DOID:0111264 |
| Name | Ruijs-Aalfs 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
progeroid features-hepatocellular carcinoma predisposition syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |