Metadata | |
---|---|
ID | DOID:0111114 |
Name | nephronophthisis 3 |
Definition | A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22. https://www.ncbi.nlm.nih.gov/pubmed/12872122 |
Xrefs | |
Synonyms |
NPH3 [EXACT] NPHP3 [EXACT] |
Parent Relationships |
is_a nephronophthisis |