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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:0000083 | Renal insufficiency |
| HP:0000093 | Proteinuria |
| HP:0000114 | Proximal tubulopathy |
| HP:0000117 | Renal phosphate wasting |
| HP:0000124 | Renal tubular dysfunction |
| HP:0000481 | Abnormal cornea morphology |
| HP:0000505 | Visual impairment |
| HP:0000531 | Corneal crystals |
| HP:0000580 | Pigmentary retinopathy |
| HP:0000613 | Photophobia |
