Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0000790 | Hematuria |
| HP:0000819 | Diabetes mellitus |
| HP:0000823 | Delayed puberty |
| HP:0000832 | Primary hypothyroidism |
| HP:0000897 | Rachitic rosary |
| HP:0000966 | Hypohidrosis |
| HP:0001010 | Hypopigmentation of the skin |
| HP:0001249 | Intellectual disability |
| HP:0001263 | Global developmental delay |
| HP:0001507 | Growth abnormality |
