OBO ID: DOID:1064
Term Name: cystinosis Search Ontology:
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)
OTHER cystinosis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CTNS Cystinosis, late-onset juvenile or adolescent nephropathic 219900
Cystinosis, nephropathic 219800
Cystinosis, ocular nonnephropathic 219750
Cystinosis, atypical nephropathic 219800
PHENOTYPE No data available

CITATIONS (4)