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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
Oligodontia-Colorectal Cancer Syndrome (ODCRCS)
Alias:
Oligodontia-Cancer Predisposition Syndrome
Odcrcs
Autosomal Dominant Ectodermal Dysplasia-Cancer Predisposition Syndrome
Tooth Agenesis-Colorectal Cancer Syndrome
Cancer, Oligodontia-Colorectal, 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
Oligodontia-Colorectal Cancer Syndrome(Oligodontia-结直肠癌综合征),又称Oligodontia-癌症易感综合征,与唇裂、孤立性牙齿缺如和牙齿缺失有关。与Oligodontia-结直肠癌综合征相关的重要基因是AXIN2(Axin 2)。相关组织包括乳腺和结肠,相关表型为寡牙和稀疏头皮毛发。
Related ID:
MALACARDS:OLG005
OMIM:608615
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
<1/1000000
1
17
8
OLG005
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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Score
Mutations
No data available
Related Drugs
Name
CAS Number
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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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