Term Name: | nephronophthisis 12 |
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Synonyms: | NPHP12 |
Definition: | A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24. |
Ontology: | Human Disease [DOID:0111119] ( DOID:0111119 ) |