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bn:06278450n
Noun Named Entity
JA
No term available
EN
Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease Wikidata
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IS A
遺伝子疾患
ジュベール症候群

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