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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
Nephrosis with Deafness and Urinary Tract and Digital Malformations
Alias:
Nephrosis-Hearing Loss-Urinary Tract-Digital Malformations Syndrome
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Braun-Bayer Syndrome
Nephrosis Deafness Urinary Tract Digital Malformation
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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
肾病性聋尿道及数字畸形,又称肾病性聋尿道及数字畸形综合征。相关表型为传导性听力障碍和肾积水
Related ID:
MALACARDS:NPH082
OMIM:256200
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
X染色体
X隐
新生儿
<1/1000000
--
--
1
NPH082
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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