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Disease Ontology Browser
cystinosis (DOID:1064)
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
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last database update
04/11/2017
MGI 6.08
The Jackson Laboratory