Search Ontology:
Human Disease

Ruijs-Aalfs syndrome

Term ID
DOID:0111264
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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