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ONTOLOGY REPORT - ANNOTATIONS


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
RGD:8554872

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  disease 15984
    sensory system disease 4970
      eye disease 2388
        eye degenerative disease 448
          snowflake vitreoretinal degeneration 2
Path 2
Term Annotations click to browse term
  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.