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cystinosis
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease lysosomal storage disease
External Links
- Disease Ontology
- DOID:1064
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002926 | Abnormality of thyroid physiology |
| HP:0003076 | Glycosuria |
| HP:0003109 | Hyperphosphaturia |
| HP:0003111 | Abnormal blood ion concentration |
| HP:0003126 | Low-molecular-weight proteinuria |
| HP:0003259 | Elevated circulating creatinine concentration |
| HP:0003355 | Aminoaciduria |
| HP:0003472 | Hypocalcemic tetany |
| HP:0003537 | Hypouricemia |
| HP:0003774 | Stage 5 chronic kidney disease |
