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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 and Perceptive Deafness (CDPD)
Alias:
Corneal Dystrophy-Perceptive Deafness Syndrome
Harboyan Syndrome
Cdpd
Corneal Endothelial Dystrophy and Perceptive Deafness
Corneal Dystrophy with Progressive Deafness
Cdpd1
Corneal Dystrophy-Perceptive Hearing Loss Syndrome
Corneal Dystrophy with Progressive Hearing Loss
Corneal Dystrophy and Sensorineural Deafness
Dystrophy, Corneal, Endothelial, and Perceptive Deafness
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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
角膜病和感知性耳聋,又称角膜病感知性耳聋综合征,与角膜病和角膜水肿有关。与角膜病和感知性耳聋相关的基因是SLC4A11(溶质载体家族4成员11),其相关通路/超级通路包括无机离子/阴离子和氨基酸/寡肽的运输。相关组织包括内皮和眼睛,相关表型为角膜混浊和感觉神经性听力障碍。
Related ID:
MALACARDS:CRN045
OMIM:217400
MESH:C535473
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
14
84
17
CRN045
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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