| Metadata | |
|---|---|
| ID | DOID:0111117 |
| PURL | http://purl.obolibrary.org/obo/DOID_0111117 Copy |
| Name | nephronophthisis-like nephropathy 1 |
| Definition | A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2. https://www.ncbi.nlm.nih.gov/pubmed/20179356 |
| Xrefs | |
| Synonyms |
NPHPL1 [EXACT] |
| Parent Relationships |
is_a nephronophthisis |