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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
非罕见病
Cebalid Syndrome (CEBALID)
Alias:
Mn1 C-Terminal Truncation Syndrome
Craniofacial Defects, Dysmorphic Ears, Structural Brain Abnormalities, Expressive Language Delay, and Impaired Intellectual Development
Cebalid
Mctt
Mn1 C-Terminal Truncation Syndrome
Mctt Syndrome
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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
Cebalid 综合症,又名 mn1 c-末端截断综合症,与白血病、急性髓系和小脑回旋网状细胞增生症有关。与 Cebalid 综合症有关的重要基因是 MN1(MN1 原癌基因,转录调节因子)。相关组织包括大脑和小脑,相关表型为短鼻和浓眉
Related ID:
MALACARDS:CBL011
OMIM:618774
MESH:D008607
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
2
26
17
CBL011
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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Mutations
No data available
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Name
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No data available
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Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
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IF
No Data Found!
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