Corneal Dystrophy, Reis-Bucklers Type (CDRB)

Corneal Dystrophy, Reis-Bucklers Type(来自ICD-11)
别称:
Reis-Bucklers Corneal Dystrophy
Rbcd
Corneal Dystrophy of Bowman Layer Type I
Granular Corneal Dystrophy Type Iii
Geographic Corneal Dystrophy
Anterior Limiting Membrane Dystrophy Type I
Reis-Bucklers' Corneal Dystrophy
Anterior Limiting Membrane Dystrophy Type 1
Corneal Dystrophy of Bowman Layer Type 1
Superficial Granular Corneal Dystrophy
Atypical Granular Corneal Dystrophy
Granular Corneal Dystrophy Type 3
Cdrb
Cdb1
Corneal Dystrophy of Bowman Layer, Type I
Corneal Dystrophy of Bowman Layer, Type 1
Dystrophy, Corneal, Reis-Bucklers Type
Granular Corneal Dystrophy, Type Iii
Reis-Bücklers Corneal Dystrophy
Corneal Dystrophy, Geographic
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Corneal Dystrophy, Reis-Bucklers Type, also known as reis-bucklers corneal dystrophy, is related to lattice corneal dystrophy and epithelial recurrent erosion dystrophy. An important gene associated with Corneal Dystrophy, Reis-Bucklers Type is TGFBI (Transforming Growth Factor Beta Induced), and among its related pathways/superpathways is 7q11.23 copy number variation syndrome. Affiliated tissues include eye and bone marrow, and related phenotypes are corneal opacity and opacification of the corneal stroma
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基础信息

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参考文献
MALACARDS
AD
Child
<1/1000000
9
62
18

疾病表征

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基因 & 突变

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靶点药物

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MGI
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