medullary cystic kidney disease (Q1916694)
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inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein
- MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2
- Medullary Cystic Kidney Disease type 2
- MCKD2
- Medullary Cystic Kidney Disease 2, Autosomal Dominant
- MEDULLARY CYSTIC KIDNEY DISEASE 2
- Medullary Cystic Kidney Disease Type II
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | medullary cystic kidney disease |
inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein |
|
Statements
C123172
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Identifiers
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1 reference