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Disease Ontology Browser
cystinosis (DOID:1064)
Alliance: disease page
Synonyms: cystine storage disease
Alt IDs: OMIM:219750, OMIM:219800, OMIM:219900, MESH:D003554, NCI:C129932, ORDO:213, UMLS_CUI:C2931187
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.

Disease References using Mouse Models (3)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory