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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
Corneal Dystrophy, Thiel-Behnke Type (CDTB)
Alias:
Thiel-Behnke Corneal Dystrophy
Tbcd
Corneal Dystrophy of Bowman Layer Type Ii
Anterior Limiting Membrane Dystrophy Type Ii
Waardenburg-Jonker Corneal Dystrophy
Anterior Limiting Membrane Dystrophy Type 2
Corneal Dystrophy of Bowman Layer Type 2
Curly Fiber Corneal Dystrophy
Honeycomb Corneal Dystrophy
Cdtb
Cdb2
Corneal Dystrophy of Bowman Layer, Type Ii
Dystrophy, Corneal, Thiel-Behnke Type
Corneal Dystrophy, Honeycomb-Shaped
Corneal Dystrophy Honeycomb-Shaped
Honeycomb-Shaped Corneal Dystrophy
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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
角膜发育不良,Thiel-Behnke 型,又称 Thiel-Behnke 角膜发育不良,与网状角膜发育不良和上皮基底膜发育不良有关。与角膜发育不良,Thiel-Behnke 型相关的基因是 TGFBI(转化生长因子β诱导),其相关通路/超级通路是 7q11.23 复制数变异综合征。相关组织包括眼睛和 T 细胞,相关表型为视力缓慢下降和中央角膜发育不良。
Related ID:
MALACARDS:CRN247
OMIM:602082
MESH:C535942
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
--
10
63
11
CRN247
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
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Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
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Publications
No data available
References Literature
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IF
No Data Found!
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