ZFIN Human Disease: Ruijs-Aalfs syndrome

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:	OMIM:616200 ORDO:435953
Ontology:	Human Disease ( DOID:0111264 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER Ruijs-Aalfs syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SPRTN	sprtn	Ruijs-Aalfs syndrome	616200

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None