Search Ontology:
Human Disease
cystinosis
- Term ID
- DOID:1064
- Synonyms
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- 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
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- 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)
- is a type of
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