Cystinuria

rare

Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones.

Identifiers: MONDO:0009067 OMIM:220100 Orphanet:214
Part of: Inborn disorder of amino acid transport Inherited renal tubular disease Syndromic disease
Also known as: CSNU · cystinuria (disease) · cystinuria, type non-I · cystinuria-lysinuria · cystinuria-lysinuria syndrome

Subtypes

Disease	ID	Subtypes
Cystinuria type A	MONDO:0019745
Cystinuria type B	MONDO:0019746

Rare disease

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