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.
MONDO:0019246
inborn disorder of lysosomal amino acid transport
is_a
Cystinoses
related
Protein defect of cystin transport
exact
cystine diathesis
related
cystine disease
related
cystine storage disease
exact
cystinosis
exact