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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
Synpolydactyly 1 (SPD1)
Alias:
Synpolydactyly Type 1
Spd1
Syndactyly, Type Ii
Synpolydactyly, Vordingborg Type
Synpolydactyly, Type 1
Sd2, Vordingborg Type
Spd, Vordingborg Type
Syndactyly Type 2
Sdty2
Sdyt2
Sd2a
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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
Synpolydactyly 1,也被称为 Synpolydactyly type 1,与 Pfeiffer 综合征和挛缩、翼状胬肉、脊柱和跖趾关节融合综合征 1a 有关。与 Synpolydactyly 1 有关的重要基因是 HOXD13 (Homeobox D13)。附属组织包括骨和 T 细胞,相关表型为 2-3 趾并指和 3-4 手指并指。
Related ID:
MALACARDS:SYN084
OMIM:186000
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
11
38
SYN084
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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