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Conditions

Conditions

25 results

Townes–Brocks Syndrome

Townes–Brocks Syndrome

Congenital anomalies including ear, anal, and kidney malformations.

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Fraser Syndrome

Fraser Syndrome

Autosomal recessive disorder with renal agenesis and cryptophthalmos.

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Meckel-Gruber Syndrome

Meckel-Gruber Syndrome

Lethal ciliopathy with cystic kidneys and brain malformations.

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Polycystic Kidney Disease (PKD)

Polycystic Kidney Disease (PKD)

Inherited disorder with fluid-filled cysts in kidneys.

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Bardet–Biedl Syndrome

Bardet–Biedl Syndrome

Ciliopathy causing obesity, polydactyly, and renal cysts.

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Lowe Syndrome (Oculocerebrorenal Syndrome)

Lowe Syndrome (Oculocerebrorenal Syndrome)

Defective phosphatidylinositol metabolism affects kidneys, eyes, brain.

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Dent’s Disease

Dent’s Disease

X-linked disorder causing proteinuria and kidney stones.

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Cystinuria

Cystinuria

Defective transport causes cystine stones.

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Primary Hyperoxaluria

Primary Hyperoxaluria

Overproduction of oxalate leads to stones and failure.

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Nephronophthisis

Nephronophthisis

Childhood disease causing fibrosis and cysts in kidneys.

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