loading...| Preferred Name |
Snowflake vitreoretinal degeneration |
| ID |
http://www.orpha.net/ORDO/Orphanet_91496 |
| 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. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91496 |
| has_inheritance |
Autosomal dominant |
| hasDbXref |
UMLS:C1860405 ICD-11:9B70 MeSH:C536677 OMIM:193230 ICD-10:H35.5 |
| label |
Snowflake vitreoretinal degeneration |
| notation |
ORPHA:91496 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_91496 |
| prefLabel |
Snowflake vitreoretinal degeneration |
| present_in |
Worldwide AND has_cases/families_value : 50.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
| treeView | |
| subClassOf |