About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory