Ivic Syndrome (IVIC)

Ivic Syndrome(来自ICD-11)
别称:
Oculootoradial Syndrome
Radial Ray Defects, Hearing Impairment, External Ophthalmoplegia, and Thrombocytopenia
Oculo-Oto-Radial Syndrome
Ivic
Instituto Venezolano De Investigaciones Cientificas Syndrome
Oors
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ivic Syndrome, also known as oculootoradial syndrome, is related to onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome and deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, and has symptoms including ophthalmoplegia An important gene associated with Ivic Syndrome is SALL4 (Spalt Like Transcription Factor 4), and among its related pathways/superpathways is Transcriptional regulation of pluripotent stem cells. Affiliated tissues include bone and eye, and related phenotypes are hearing impairment and joint stiffness
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基础信息

遗传方式
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参考文献
MALACARDS
AD
Antenatal
<1/1000000
10
66
6

疾病表征

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基因 & 突变

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靶点药物

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疾病模型

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MGI
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