nephropathic cystinosis
An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0016239
cystinosis
is_a
Abderhalden Kaufmann Lignac syndrome
exact
Abderhalden Lignac Kaufmann disease
exact
Abderhalden-Kaufmann-Lignac syndrome
exact
Abderhalden-Lignac-Kaufmann disease
exact
CTNS
exact
cystinosis, atypical nephropathic
exact
cystinosis, nephropathic
exact