| Metadata | |
|---|---|
| ID | DOID:0111125 |
| Name | nephronophthisis 18 |
| Definition | A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22. https://www.ncbi.nlm.nih.gov/pubmed/24882706 |
| Xrefs | |
| Synonyms |
NPHP18 [EXACT] |
| Parent Relationships |
is_a nephronophthisis |