Holt-Oram Syndrome (HOS)

Holt-Oram Syndrome(来自ICD-11)
别称:
Hos
Atriodigital Dysplasia
Heart-Hand Syndrome
Atriodigital Dysplasia Type 1
Heart-Hand Syndrome Type 1
Atrio-Digital Syndrome
Heart-Hand Syndrome, Type 1
Ventriculo-Radial Syndrome
Cardiac-Limb Syndrome
Heart Hand Syndrome
Holt Oram Syndrome
Hos1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Holt-Oram Syndrome, also known as hos, is related to interatrial communication and atrioventricular block. An important gene associated with Holt-Oram Syndrome is TBX5 (T-Box Transcription Factor 5), and among its related pathways/superpathways are Nervous system development and Cardiac conduction. Affiliated tissues include heart and bone, and related phenotypes are joint stiffness and split hand
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基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
AD
Unknown
1-9/1000000
26
326
76

疾病表征

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基因 & 突变

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靶点药物

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临床阶段
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疾病模型

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MGI
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