OBO ID: DOID:0111570
Term Name: snowflake vitreoretinal degeneration Search Ontology:
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 snowflake vitreoretinal degeneration PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KCNJ13 Snowflake vitreoretinal degeneration 193230
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.