| Term Name: | nephronophthisis 2 |
|---|---|
| Synonyms: | infantile nephronophthisis 2, NPH2, NPHP2 |
| Definition: | A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31. |
| Ontology: | Human Disease [DOID:0111113] ( DOID:0111113 ) |