Term Name: | nephronophthisis 11 |
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Synonyms: | NPHP11 |
Definition: | A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. |
Ontology: | Human Disease [DOID:0111118] ( DOID:0111118 ) |