cystinosis

Term ID

DOID:1064

Synonyms

• cystine storage disease

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. (3)

References

• GARD:6236
• MESH:D003554
• NCI:C129932
• OMIM:219750
• OMIM:219800
• OMIM:219900
• ORDO:213
• SNOMEDCT_US_2022_09_01:62332007
• UMLS_CUI:C2931187

Ontology

Human Disease   (DOID:1064)