| Metadata | |
|---|---|
| ID | DOID:1064 |
| Name | cystinosis |
| 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. https://en.wikipedia.org/wiki/Cystinosis, https://www.ncbi.nlm.nih.gov/pubmed/12110740, http://ghr.nlm.nih.gov/condition/cystinosis |
| Xrefs |
SNOMEDCT_US_2023_03_01:62332007 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
cystine storage disease [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |