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中文Hypoparathyroidism-Deafness-Renal Disease Syndrome
Alias:
Hypoparathyroidism, Deafness, Renal Disease Syndrome
Barakat Syndrome
Hypoparathyroidism, Sensorineural Deafness, and Renal Disease
Hdr Syndrome
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低钙血症-耳聋-肾病综合征，也称为低钙血症、耳聋、肾病综合征，与低钙血症和高磷血症有关。与低钙血症-耳聋-肾病综合征相关的重要基因是GATA3（GATA结合蛋白3），其相关通路/超级通路包括GDNF/RET信号轴。附属组织包括肾脏和胸腺，相关表型为神经系统和内分泌/外分泌腺
Related ID：
MESH：C537907
Basic Information
Inheritance
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Reference
MALACARDS
Medical Symptom
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HPO Frequency
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MGI
Related Gene
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