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Items: 3

1.

Infantile nephropathic cystinosis

MedGen UID:
760976
Concept ID:
C3537440
Disease or Syndrome
2.

Cystinosis

A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME. [from MeSH]

MedGen UID:
419735
Concept ID:
C2931187
Disease or Syndrome
3.

Cystinosis, atypical nephropathic

MedGen UID:
413668
Concept ID:
C2749685
Disease or Syndrome
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