nephronophthisis 1 (Q32147323)
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nephronophthisis that has material basis in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13
- NPH1
- juvenile nephronophthisis 1
- NPHP1
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | nephronophthisis 1 |
nephronophthisis that has material basis in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13 |
|
Statements
1 reference
C74998
0 references
Identifiers
1 reference
1 reference