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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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snowflake vitreoretinal degeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gigyf2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: Snowflake vitreoretinal degeneration ClinVar PMID:18179896 PMID:23255580 PMID:25741868 PMID:33546218 NCBI chr 9:94,425,191...94,550,431
Ensembl chr 9:94,425,252...94,550,431
JBrowse link
G Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 ISO ClinVar Annotator: match by term: Snowflake vitreoretinal degeneration OMIM
ClinVar
PMID:18179896 PMID:23255580 PMID:25741868 PMID:33546218 NCBI chr 9:94,486,719...94,495,333
Ensembl chr 9:94,487,224...94,495,333
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    sensory system disease 5336
      eye disease 2649
        eye degenerative disease 481
          snowflake vitreoretinal degeneration 2
Path 2
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8895
        genetic disease 8408
          monogenic disease 6354
            autosomal genetic disease 5505
              autosomal dominant disease 3758
                snowflake vitreoretinal degeneration 2
paths to the root