Cystinosis
Disease ID: disease_node_2358
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| Dbxref | GARD:6236, MESH:D003554, MIM:219750, MIM:219800, MIM:219900, NCI:C129932, ORDO:213, SNOMEDCT_US_2023_03_01:62332007, UMLS_CUI:C2931187 |
|---|---|
| Subclassof | DOID_3211, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | cystine storage disease |
| Mesh Id | D003554 |
| Mesh Label | Cystinosis |
| Mesh Subclassof | D016464 |
| Doid Label | cystinosis |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_2358 |
| Doid Id | DOID_1064 |
| Label | Cystinosis |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Lysosomal Storage Diseases(ID:disease_node_8717) (Disease)