Metadata | |
---|---|
ID | DOID:0111117 |
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 |