Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular. [ Orphanet:213 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10:E72.04 (MONDO:equivalentTo)
  • UMLS:C0010690 (Orphanet:213)
  • ICD10:E72.0 (Orphanet:213)
  • UMLS:CN035091 (MONDO:equivalentTo)
  • SCTID:190681003 (MONDO:equivalentTo)
  • MedDRA:10011777 (Orphanet:213)
  • MESH:D003554 (Orphanet:213)
  • NCIT:C2976 (MONDO:equivalentTo)
  • Orphanet:213 (UMLS:CN035091)
  • DOID:1064 (MONDO:equivalentTo)
  • GARD:0006236 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

closeMatch

http://identifiers.org/snomedct/190683000

http://identifiers.org/snomedct/62332007

http://identifiers.org/snomedct/111398009

http://identifiers.org/snomedct/367374009

http://linkedlifedata.com/resource/umls/id/C2931187

definition

Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.

exactMatch

http://identifiers.org/mesh/D003554

http://linkedlifedata.com/resource/umls/id/C0010690

http://www.orpha.net/ORDO/Orphanet_213

http://purl.obolibrary.org/obo/NCIT_C2976

http://identifiers.org/snomedct/190681003

http://purl.obolibrary.org/obo/DOID_1064

http://linkedlifedata.com/resource/umls/id/CN035091

http://identifiers.org/meddra/10011777

has exact synonym

Protein defect of cystin transport

cystine storage disease

has related synonym

Cystinoses

cystine diathesis

cystine disease

id

MONDO:0016239

seeAlso

https://rarediseases.info.nih.gov/diseases/6236/cystinosis