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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
Nephropathy, Deafness, and Hyperparathyroidism
Alias:
Nephropathy-Hearing Loss-Hyperparathyroidism Syndrome
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Edwards-Patton-Dilly Syndrome
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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、耳聋和甲状旁腺功能亢进症,又称肾病-听力损失-甲状旁腺功能亢进症,与感音神经性听力损失和甲状旁腺功能亢进症有关。附属组织包括骨,相关表型为感音神经性听力障碍和蛋白尿。
Related ID:
MALACARDS:NPH023
OMIM:256120
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
孩童期
<1/1000000
--
--
1
NPH023
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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