Search Ontology:
Human Disease

cystinosis

Term ID
DOID:1064
Synonyms
  • cystine storage 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. (3)
References
Ontology
Human Disease   ( DOID:1064 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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