Ruijs-Aalfs Syndrome
Disease ID: disease_node_20253
Connections displayed (default: 10).
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| Dbxref | MIM:616200, ORDO:435953 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | progeroid features-hepatocellular carcinoma predisposition syndrome |
| Doid Label | Ruijs-Aalfs syndrome |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20253 |
| Doid Id | DOID_0111264 |
| Label | Ruijs-Aalfs Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)