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Summary Literature (0)
DOID:1064 - cystinosis

Disease Ontology 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.

Synonyms: cystine storage disease,

Xenbase Genes : ctns

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0016239 - cystinosis


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), lysosomal storage disease (is_a)