|OBO ID: DOID:0111112|
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|Term Name:||nephronophthisis 1||Search Ontology:|
|Definition:||A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. (2)|
|Ontology:||Human Disease (DOID:0111112)|