FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term snowflake vitreoretinal degeneration ID (Ontology) DOID:0111570 (Human Disease)
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.
Also Known As "SVD" ; "vitreoretinal degeneration, snowflake type"
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 Genes
 snowflake vitreoretinal degeneration       2
 for disease ribbon | snowflake vitreoretinal degeneration       2
 model of | snowflake vitreoretinal degeneration       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
eye disease                     |
 |__eye degenerative disease____|
                                snowflake vitreoretinal degeneration  2 rec.
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Is a autosomal dominant disease
eye degenerative disease
Part of
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Synonyms
  • "SVD" EXACT OMO:0003012
    "vitreoretinal degeneration, snowflake type" EXACT
Secondary IDs
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GARD:9706
MESH:C536677
MIM:193230
ORDO:91496
UMLS_CUI:C1860405