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Summary Literature (0)
DOID:0111264 - Ruijs-Aalfs syndrome


Disease Ontology 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.

Synonyms: progeroid features-hepatocellular carcinoma predisposition syndrome

Referenced OMIM:
OMIM:616200 - RUIJS-AALFS SYNDROME; RJALS

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : sprtn

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)


Xenbase: The Xenopus Model Organism Knowledgebase.
Version: 4.15.0
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