FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term cystinosis ID (Ontology) DOID:1064 (Human 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.
Also Known As "cystine storage disease"
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 Genes
 cystinosis       1
 for disease ribbon | cystinosis       1
 model of | cystinosis       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
inherited metabolic disorder     |
 |__lysosomal storage disease____|
                                 cystinosis  1 rec.
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Is a autosomal recessive disease
lysosomal storage disease
Part of
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Synonyms
  • "cystine storage disease" EXACT
Secondary IDs
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GARD:6236
MESH:D003554
MIM:219750
MIM:219800
MIM:219900
NCI:C129932
ORDO:213
SNOMEDCT_US_2023_03_01:62332007
UMLS_CUI:C2931187