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中文Pendred Syndrome (PDS)
Alias:
Goiter-Deafness Syndrome
Deafness with Goiter
Thyroid Dyshormonogenesis 2b
Tdh2b
Goiter-Hearing Loss Syndrome
Pendred's Syndrome
Pds
Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, and Goiter
Hypothyroidism, Congenital, Due to Dyshormonogenesis, 2b
Congenital Hypothyroidism Due to Dyshormonogenesis 2b
Thyroid Hormonogenesis, Genetic Defect in, 2b
Genetic Defect in Thyroid Hormonogenesis 2b
Goitre-Deafness Syndrome
Goitre Deafness
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Pendred 综合征，又称甲状腺肿聋综合征，与先天性甲状腺功能减退和甲状腺肿有关。Pendred 综合征相关的重要基因是 SLC26A4（转运蛋白家族26成员4），其相关通路/超通路包括跨膜转运器障碍和甲状腺素（甲状腺激素）生产。相关组织包括甲状腺和睾丸，相关表型包括感觉神经性听力障碍和内耳异常。
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MALACARDS
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