nephropathic infantile cystinosis
Nephropathic infantile cystinosis is the most common and severe form 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
CTNS
related
cystinosis, infantile nephropathic
exact
nephropathic infantile cystinosis
exact