snowflake vitreoretinal degeneration Disease Ontology Browser

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Disease Ontology Browser

snowflake vitreoretinal degeneration (DOID:0111570)
Alliance: disease page
Synonyms: SVD; vitreoretinal degeneration, snowflake type
Alt IDs: OMIM:193230, MESH:C536677, ORDO:91496, UMLS_CUI:C1860405
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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