juvenile nephropathic cystinosis
cystinosis, late-onset juvenile or adolescent nephropathic
exact
intermediate cystinosis
exact
juvenile cystinosis
exact
juvenile nephropathic cystinosis
exact
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