| Metadata | |
|---|---|
| ID | DOID:0111127 |
| Name | nephronophthisis 20 |
| Definition | A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15. https://www.ncbi.nlm.nih.gov/pubmed/28089251 |
| Xrefs | |
| Synonyms |
NPHP20 [EXACT] |
| Parent Relationships |
is_a nephronophthisis |