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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.
http://ghr.nlm.nih.gov/condition/cystinosis, https://en.wikipedia.org/wiki/Cystinosis, https://www.ncbi.nlm.nih.gov/pubmed/12110740
Xrefs

CSP2005:1849-0607

GARD:6236

MESH:D003554

NCI:C129932

OMIM:219750

OMIM:219800

OMIM:219900

ORDO:213

SNOMEDCT_US_2018_03_01:62332007

UMLS_CUI:C2931187

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

cystine storage disease [EXACT]

Parent Relationships

is_a lysosomal storage disease

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