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snowflake vitreoretinal degeneration

^ http://purl.obolibrary.org/obo/MONDO_0008663

Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36. [ Orphanet:91496 ]

Term info

database cross reference
  • UMLS:C1860405 (Orphanet:91496/e)
  • ICD10CM:H35.5 (Orphanet:91496/ntbt)
  • MESH:C536677 (Orphanet:91496/e)
  • OMIM:193230 (Orphanet:91496/e)
  • Orphanet:91496 (OMIM:193230)
  • GARD:0009706 (MONDO:equivalentTo)
  • DOID:0111570 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

abbreviation
SVD [ OMIM:193230 MONDO:Lexical ]

definition

Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.

exactMatch

http://identifiers.org/mesh/C536677, http://linkedlifedata.com/resource/umls/id/C1860405, http://purl.obolibrary.org/obo/DOID_0111570, http://purl.obolibrary.org/obo/Orphanet_91496, https://omim.org/entry/193230

has exact synonym

snowflake vitreoretinal degeneration

has related synonym

SVD, vitreoretinal degeneration, snowflake type, snowflake degeneration in hereditary vitreoretinal degeneration

id

MONDO:0008663

seeAlso

https://rarediseases.info.nih.gov/diseases/9706/snowflake-vitreoretinal-degeneration

Term relations