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Term:snowflake vitreoretinal degeneration
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Accession:DOID:0111570 term browser browse the term
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. (DO)
Synonyms:exact_synonym: SVD;   snowflake degeneration in hereditary vitreoretinal degeneration;   vitreoretinal degeneration, Snowflake type
 primary_id: MESH:C536677
 alt_id: OMIM:193230
 xref: GARD:9706;   ORDO:91496
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snowflake vitreoretinal degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gigyf2 GRB10 interacting GYF protein 2 JBrowse link 9 94,425,191 94,550,431 RGD:8554872
G Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 JBrowse link 9 94,486,719 94,495,333 RGD:7240710

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  disease 15984
    sensory system disease 4970
      eye disease 2388
        eye degenerative disease 448
          snowflake vitreoretinal degeneration 2
Path 2
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  disease 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          monogenic disease 5382
            autosomal genetic disease 4348
              autosomal dominant disease 2713
                snowflake vitreoretinal degeneration 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.