Human genes for cystinosis
Cystinosis [DOID:1064]
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.
Synonyms: cystinosis, cystinosises, DOID:1064, cystine storage disease, cystine storage disorder ...