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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
Laurin-Sandrow Syndrome (LSS)
Alias:
Sandrow Syndrome
Tetramelic Mirror-Image Polydactyly
Mirror-Image Polydactyly
Mirror Hands and Feets-Nasal Defects Syndrome
Tmip
Mirror Hands and Feet with Nasal Defects
Lss
Mip
Fibula and Ulna, Duplication of, with Absence of Tibia and Radius
Mipduplication of Fibuland Ulna with Absence of Tibia and Radius
Duplication of Fibula and Ulna with Absence of Tibia and Radius
Miccor Hands and Feet with Nasal Defects
Laurin-Sandrow Syndrome, Segmental
Segmental Laurin-Sandrow 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
劳林-桑德罗综合症,又称桑德罗综合症,与三指并指和足内翻有关。与劳林-桑德罗综合症有关的重要基因是LMBR1(肢发育膜蛋白1),其相关通路/超级通路包括 Hedgehog 信号通路和巴德-毕德氏综合症。附属组织包括骨和胸腺,相关表型为前轴手多指和手指并指。
Related ID:
MALACARDS:LRN006
OMIM:135750
MESH:C535689
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
胎儿期
<1/1000000
17
140
16
LRN006
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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