About   Help   FAQ
Disease Ontology Browser
cystinosis (DOID:1064)
Alliance: disease page
Synonyms: cystine storage disease
Alt IDs: OMIM:219750, OMIM:219800, OMIM:219900, ICD10CM:E72.04, MESH:D003554, NCI:C2976, 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 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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.12
The Jackson Laboratory