cystine disease

Cystinoses

cystine diathesis

Protein defect of cystin transport

cystine storage disease

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.

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

http://identifiers.org/snomedct/62332007

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

http://identifiers.org/snomedct/190683000

http://identifiers.org/snomedct/367374009

http://identifiers.org/snomedct/111398009

UMLS:C0010690

GARD:0006236

SCTID:190681003

ICD10:E72.04

ICD10:E72.0

Orphanet:213

DOID:1064

MedDRA:10011777

NCIT:C2976

UMLS:CN035091

MESH:D003554

http://purl.obolibrary.org/obo/GO_0080145

http://purl.obolibrary.org/obo/GO_0005764

http://identifiers.org/meddra/10011777

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

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

http://identifiers.org/mesh/D003554

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

http://identifiers.org/snomedct/190681003

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

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

Protein defect of cystin transport

cystine storage disease

cystine disease

Cystinoses

cystine diathesis

MONDO:0016239

http://purl.obolibrary.org/obo/mondo.owl

http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_disease

http://purl.oboInOwllibrary.org/oboInOwl/mondo#gard_rare

cystinosis

MONDO:0016239

cystinosis

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

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.

http://purl.obolibrary.org/obo/MONDO_0019246