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 & Copyright Notice
Send questions and comments to User Support.
last database update
02/11/2020
MGI 6.14
The Jackson Laboratory