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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:0001531 | Failure to thrive in infancy |
| HP:0001738 | Exocrine pancreatic insufficiency |
| HP:0001744 | Splenomegaly |
| HP:0001824 | Weight loss |
| HP:0002007 | Frontal bossing |
| HP:0002015 | Dysphagia |
| HP:0002059 | Cerebral atrophy |
| HP:0002240 | Hepatomegaly |
| HP:0002344 | Progressive neurologic deterioration |
| HP:0002514 | Cerebral calcification |
