| Metadata | |
|---|---|
| ID | DOID:0111113 |
| Name | nephronophthisis 2 |
| Definition | A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31. https://www.ncbi.nlm.nih.gov/pubmed/12872123 |
| Xrefs | |
| Synonyms |
infantile nephronophthisis 2 [EXACT] NPH2 [EXACT] NPHP2 [EXACT] |
| Parent Relationships |
is_a nephronophthisis |