| 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 | |
| Subsets |
DO_rare_slim |
| Synonyms |
SVD [EXACT] vitreoretinal degeneration, snowflake type [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |