Metadata | |
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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. http://ghr.nlm.nih.gov/condition/cystinosis, https://en.wikipedia.org/wiki/Cystinosis, https://www.ncbi.nlm.nih.gov/pubmed/12110740 |
Xrefs |
SNOMEDCT_US_2023_03_01:62332007 |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
cystine storage disease [EXACT] |
Parent Relationships |