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. [ Orphanet:411641 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:411641 (OMIM:219750)
  • MESH:C535765 (MONDO:equivalentTo)
  • UMLS:C2931013 (Orphanet:411641)
  • OMIM:219750 (Orphanet:411641)
  • ICD10:E72.0 (Orphanet:411641)
Subsets

ordo_clinical_subtype

closeMatch

http://linkedlifedata.com/resource/umls/id/C1857413

definition

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.

exactMatch

http://identifiers.org/mesh/C535765

http://www.orpha.net/ORDO/Orphanet_411641

http://identifiers.org/omim/219750

http://linkedlifedata.com/resource/umls/id/C2931013

has exact synonym

adult-onset cystinosis

non-nephropathic cystinosis

has related synonym

cystinosis, ocular Nonnephropathic

cystinosis, benign Nonnephropathic

cystinosis, ADULT NONNEPHROPATHIC

id

MONDO:0009064