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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
Opsismodysplasia (OPSMD)
Alias:
Opsmd
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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
Opsismodysplasia, 也被称为opsmd,与骨发育不良和骨病有关。Opsismodysplasia 关联的一个重要基因是 INPPL1 (Inositol Polyphosphate Phosphatase Like 1)。关联的组织包括骨和皮肤,相关表型为巨脑和前额突出。
Related ID:
MALACARDS:OPS002
OMIM:258480
MESH:D010009
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
1
6
11
OPS002
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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