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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
Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans (SSOAOD)
Alias:
Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis
Ssoaod
Short Stature and Advanced Bone Age, with/without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans
Short Stature and Advanced Bone Age, with Early-Onset Osteoarthritis
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Familial Osteochondritis Dissecans
Od
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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
短身高和提前骨龄,伴有或不伴有早期骨关节炎和/或骨软骨炎,也称为骨软骨炎、短身高和早期骨关节炎,与家族性骨软骨炎和I型骨生成不全有关,症状包括鸭步、膝痛和肘痛。与短身高和提前骨龄,伴有或不伴有早期骨关节炎和/或骨软骨炎有关的重要基因是ACAN(Aggrecan)。相关组织包括骨,相关表型是发育停滞和短指症。
Related ID:
MALACARDS:SHR106
OMIM:165800
MESH:D010008
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
<1/1000000
1
16
23
SHR106
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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