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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:0002013 | Vomiting |
| HP:0002019 | Constipation |
| HP:0002148 | Hypophosphatemia |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0002748 | Rickets |
| HP:0002750 | Delayed skeletal maturation |
| HP:0002900 | Hypokalemia |
| HP:0002901 | Hypocalcemia |
| HP:0002902 | Hyponatremia |
| HP:0002907 | Microscopic hematuria |
