| Metadata | |
|---|---|
| ID | DOID:0111112 |
| Name | nephronophthisis 1 |
| Definition | A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. https://www.ncbi.nlm.nih.gov/pubmed/9326933, https://www.ncbi.nlm.nih.gov/pubmed/9361039 |
| Xrefs | |
| Synonyms |
juvenile nephronophthisis 1 [EXACT] NPH1 [EXACT] NPHP1 [EXACT] |
| Parent Relationships |
is_a nephronophthisis |