juvenile nephropathic cystinosis
Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, 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.
MONDO:0019743
obsolete nephropathy secondary to a storage or other metabolic disease (obsolete MONDO:0019743)
excluded_subClassOf
MONDO:0019216
inborn disorder of amino acid transport
is_a
MONDO:0100151
nephropathic cystinosis
is_a
cystinosis, late-onset juvenile or adolescent nephropathic
exact
intermediate cystinosis
exact
juvenile cystinosis
exact
juvenile nephropathic cystinosis
exact