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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
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive (PHPVAR)
Alias:
Persistent Fetal Vasculature
Retinal Nonattachment, Nonsyndromic Congenital
Phpvar
Rnanc
Vitreous, Primary, Hyperplastic, Persistent, Autosomal Recessive
Congenital Non-Syndromic Retinal Non-Attachment
Retinal Non-Attachment and Falciform Detachment
Retinal Nonattachment and Falciform Detachment
Retinal Detachment Congenital
Ncrna
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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
持久性胎儿血管,常染色体隐性,也称为持久性初级玻璃体增生和视网膜脱离,与持久性胎儿血管和视网膜脱离有关。与持久性胎儿血管,常染色体隐性相关的基因是 ATOH7 (Atonal BHLH Transcription Factor 7)。附属组织包括眼睛和视网膜,相关表型为虹膜缺损和葡萄膜炎。
Related ID:
MALACARDS:PRS122
OMIM:221900
MESH:D012163
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
2
20
19
PRS122
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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