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ocular cystinosis

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.
Uniprot Description A form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Cystinosis adult non-nephropathic type is characterized by ocular features and a benign course. Patients manifest mild photophobia due to conjunctival and corneal cystine crystals.
Mondo Term and Equivalent IDs
MONDO:0009064:  ocular cystinosis
MESH:C535765: 
Orphanet:411641: 
UMLS:C2931013: