Term Name: | nephronophthisis 2 |
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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 ) |