C Syndrome (CSYN)

C Syndrome(来自ICD-11)
别称:
Opitz Trigonocephaly Syndrome
Trigonocephaly
Opitz Trigonocephaly C Syndrome
Trigonocephaly C Syndrome
Opitz C Trigonocephaly
Otcs
Trigonocephaly Syndrome
Csyn
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
C Syndrome, also known as opitz trigonocephaly syndrome, is related to mucopolysaccharidosis, type ii and mucopolysaccharidosis-plus syndrome, and has symptoms including seizures An important gene associated with C Syndrome is CD96 (CD96 Molecule), and among its related pathways/superpathways are Plasma lipoprotein assembly, remodeling, and clearance and Cholesterol metabolism. Affiliated tissues include skin and bone, and related phenotypes are intellectual disability and high palate
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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
Antenatal
1-9/1000000
30
363
20

疾病表征

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分类
表征
HPO概率
Orphanet概率
HPO来源
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基因 & 突变

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基因
作用分类
分值
突变数量
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靶点药物

药物名称
CAS号
研发状态
临床阶段
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疾病模型

类型
名称
MGI
相关基因
品系来源
文献数量
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文献报道

标题
PMID
期刊
年代
IF
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