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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Orofaciodigital Syndrome Xi (OFD11)
Alias:
Ofd11
Oral-Facial-Digital Syndrome, Gabrielli Type
Orofaciodigital Syndrome, Gabrielli Type
Oral-Facial-Digital Syndrome Type 11
Orofaciodigital Syndrome Type 11
Orofaciodigital Syndrome 11
Oral-Facial-Digital Syndrome with Skeletal Anomalies
Oral-Facial-Digital Syndrome, Type Xi
Gabrielli Syndrome
Ofds Xi
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
Orofaciodigital Syndrome Xi,也被称为ofd11,与口腔面部数字综合症和宽鼻梁有关。附属组织包括骨和心脏,相关表型为癫痫和宽鼻梁。
Related ID:
MALACARDS:ORF042
OMIM:612913
MESH:C557821
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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新生儿
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3
ORF042
Medical Symptom
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No data available
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No data available
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No data available
References Literature
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No Data Found!
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