Search Ontology:
Human Disease
snowflake vitreoretinal degeneration
- Term ID
- DOID:0111570
- Synonyms
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- 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
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- GARD:9706
- MESH:C536677
- MIM:193230
- ORDO:91496
- UMLS_CUI:C1860405
- Ontology
- Human Disease ( DOID:0111570 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models