Term Name: | nephronophthisis 18 |
---|---|
Synonyms: | NPHP18 |
Definition: | A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22. |
Ontology: | Human Disease [DOID:0111125] ( DOID:0111125 ) |