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Summary Literature (0)
DOID:0111570 - snowflake vitreoretinal degeneration

Disease Ontology Definition:An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has_material_basis_in heterozygous mutation in KCNJ13 on chromosome 2q37.1.

Synonyms: SVD, vitreoretinal degeneration, snowflake type,

Xenbase Genes : kcnj13



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), eye degenerative disease (is_a)