OBO ID: DOID:0111264 |
Term Name: | Ruijs-Aalfs syndrome | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0111264 ) |
OTHER Ruijs-Aalfs syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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