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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
Failure of Tooth Eruption, Primary (PFE)
Alias:
Primary Failure of Tooth Eruption
Primary Retention of Teeth
Pfe
Unerupted Second Primary Molar
Familial Posterior Openbite Malocclusion
Dental Noneruption
Primary Failure of Tooth Eruption, Nonsyndromic
Posterior Openbite Malocclusion, Familial
Non-Syndromic Primary Failure of Eruption
Nonsyndromic Primary Failure of Eruption
Tooth Eruption, Failure, Primary
Dental Non-Eruption
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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
牙齿萌出失败,原发性,也称为原发性牙齿萌出失败,与软骨发育不全、布洛斯特兰德型和牙齿粘连有关。与原发性牙齿萌出失败相关的基因是PTH1R(甲状旁腺激素1受体),其相关通路/超级通路包括G alpha (s)信号转导事件和软骨内骨化与骨骼发育不良。附属组织包括骨,相关表型包括牙列缺损和恒牙滞留。
Related ID:
MALACARDS:FLR007
OMIM:125350
MESH:C565114
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
17
97
10
FLR007
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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