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 has material basis in mutations in the CTNS gene, located on chromosome 17.

Synonyms: cystine storage disease,

Echinobase Genes :


OMIM:

MIM:219750 - cystinosis, adult nonnephropathic

MIM:219800 - cystinosis, nephropathic; ctns

MIM:219900 - cystinosis, late-onset juvenile or adolescent nephropathic type

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee