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nephropathic infantile cystinosis

^ http://purl.obolibrary.org/obo/MONDO_0018467

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 ]

Term info

database cross reference
  • Orphanet:411629 (OMIM:219800)
  • ICD10EXP:E72.0+ (Orphanet:411629/ntbt)
  • ICD10EXP:N16.3* (Orphanet:411629/ntbt)
Subsets

ordo_clinical_subtype

abbreviation
CTNS [ MONDO:Lexical OMIM:219800 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985

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://purl.obolibrary.org/obo/Orphanet_411629

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019743

has exact synonym

nephropathic infantile cystinosis, cystinosis, infantile nephropathic

has related synonym

lysosomal cystine transport protein, defect of, cystinosis, atypical nephropathic, CTNS, cystinosin, defect of

id

MONDO:0018467