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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
非罕见病
Microphthalmia, Isolated, with Coloboma 9 (MCOPCB9)
Alias:
Microphthalmia, Syndromic 15
Mcopcb9
Microphthalmia and/or Coloboma with Developmental Delay
Microphthalmia, Isolated, with Coloboma, Type 9
Microphthalmia, Isolated, with Coloboma, 9
Isolated Colobomatous Microphthalmia 9
Microphthalmia, Syndromic, 15
Mcops15
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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
Microphthalmia, Isolated, with Coloboma 9,也被称为 Microphthalmia, Syndromic 15。与 Microphthalmia, Isolated, with Coloboma 9 关联的重要基因是 TENM3 (Teneurin Transmembrane Protein 3)。相关组织包括眼睛和视网膜,相关表型包括视力障碍和虹膜缺损。
Related ID:
MALACARDS:MCR214
OMIM:615145
MESH:D003103
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
1
5
6
MCR214
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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