Term Name: snowflake vitreoretinal degeneration
Synonyms: SVD, vitreoretinal degeneration, snowflake type
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.
Ontology: Human Disease [DOID:0111570]   ( DOID:0111570 )

Relationships
is a type of: autosomal dominant disease eye degenerative disease