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 |