nephropathic cystinosis (MONDO_0100151, a Monarch Disease Ontology term) is 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. Also known as: Abderhalden Kaufmann Lignac syndrome, Abderhalden Lignac Kaufmann disease, Abderhalden-Kaufmann-Lignac syndrome, Abderhalden-Lignac-Kaufmann disease, CTNS, cystinosis, atypical nephropathic, cystinosis, nephropathic.