| Metadata | |
|---|---|
| ID | DOID:0111119 |
| Name | nephronophthisis 12 |
| Definition | A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24. https://www.ncbi.nlm.nih.gov/pubmed/21258341 |
| Xrefs | |
| Synonyms |
NPHP12 [EXACT] |
| Parent Relationships |
is_a nephronophthisis |