OBO ID: DOID:0111264
Term Name: Ruijs-Aalfs syndrome Search Ontology:
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:
Ontology: Human Disease   (DOID:0111264)
OTHER Ruijs-Aalfs syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SPRTN Ruijs-Aalfs syndrome 616200
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None