Ontological Term Details

Compound
CDB004794 (Cholesterol)
Term
Cystinosis
Definition
A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. it follows an autosomal recessive inheritance pattern and has material basis in mutations in the ctns gene, located on chromosome 17. (do).
Parent Term
Health condition
Parent Definition
A health effect that consists on short or long-term disease, condition, disorder, syndrome or constant abnormality.
Synonyms
  • Cystinosis
  • Early-onset or infantile nephropathic type
  • Late onset type
  • Ocular nonnephropathic
  • Cystonisis
  • Benign nonnephropathic
    • Other Compounds Mapped to 'Cystinosis'
  • CDB004794 (Cholesterol)

    • References