Search Ontology:
Human Disease

snowflake vitreoretinal degeneration

Term ID
DOID:0111570
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. (2)
References
Ontology
Human Disease   ( DOID:0111570 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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