Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes. [ Orphanet:411629 ]

This is just here as a test because I lose it

Term information

database cross reference
  • MONDO:0009065 (MONDO:obsoleteEquivalent)
  • ICD10:N16.3* (Orphanet:411629)
  • Orphanet:411629 (OMIM:219800)
  • ICD10:E72.0+ (Orphanet:411629)
Subsets

ordo_clinical_subtype

closeMatch

http://linkedlifedata.com/resource/umls/id/C3537440

http://linkedlifedata.com/resource/umls/id/C2749685

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

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/infantile.yaml

definition

Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.

exactMatch

http://www.orpha.net/ORDO/Orphanet_411629

has exact synonym

cystinosis, infantile nephropathic

has related synonym

lysosomal cystine transport protein, defect of

cystinosis, atypical nephropathic

CTNS

cystinosin, defect of

id

MONDO:0018467