CystinosisEarly-onset or infantile nephropathic typeLate onset typeOcular nonnephropathicCystonisisBenign nonnephropathicOther Metabolites Mapped to 'Cystinosis'HMDB0000067 (Cholesterol)
- HMDB0000067 (Cholesterol)
- 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.