| 单词 |
nephronophthisis type 11 |
| 释义 |
nephronophthisis type 11 nephronophthisis type 11 A disorder (OMIM:613550) characterised by the association of nephronophthisis and hepatic fibrosis, often accompanied by ocular lesions. Molecular pathology Caused by defects of TMEM67, which encodes meckelin, a key ciliary protein. |
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