Term Name:	cystinosis
Synonyms:	cystine storage disease
Definition:	A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17.
Ontology:	Human Disease [DOID:1064]   ( DOID:1064 )