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Metadata
ID DOID:0111570
Name snowflake vitreoretinal degeneration
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.
https://www.ncbi.nlm.nih.gov/pubmed/18179896, https://www.ncbi.nlm.nih.gov/pubmed/4812083
Xrefs

GARD:9706

MESH:C536677

OMIM:193230

ORDO:91496

UMLS_CUI:C1860405

Subsets

DO_rare_slim

Synonyms

SVD [EXACT]

vitreoretinal degeneration, snowflake type [EXACT]

Parent Relationships

is_a eye degenerative disease

is_a autosomal dominant disease

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