JSON

cystinosis

^ http://purl.obolibrary.org/obo/MONDO_0016239

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 ]

Term info

database cross reference
  • DOID:1064 (MONDO:equivalentTo)
  • MESH:D003554 (Orphanet:213/e)
  • MedDRA:10011777 (Orphanet:213/e)
  • GARD:0006236 (MONDO:equivalentTo)
  • NCIT:C2976 (MONDO:equivalentTo)
  • Orphanet:213 (UMLS:CN035091)
  • ICD10CM:E72.04 (MONDO:equivalentTo)
  • UMLS:C0010690 (Orphanet:213/e)
  • UMLS:CN035091 (MONDO:equivalentTo)
  • SCTID:190681003 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

closeMatch

http://identifiers.org/meddra/10011777

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://purl.bioontology.org/ontology/ICD10CM/E72.04, http://purl.obolibrary.org/obo/Orphanet_213, http://identifiers.org/mesh/D003554, 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

has exact synonym

cystinosis, 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