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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
49,xxxxy Syndrome
Alias:
Xxxxy Syndrome
49,xxxxy Chromosomal Anomaly
Chromosome Xxxxy Syndrome
49, Xxxxy Syndrome
Xxxxy Aneuploidy
Xxxx Syndrome
49,xxxxy
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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
49,xxxxy 综合症,也被称为xxxxy 综合症,与四倍体X和低促性腺激素性性腺功能减退症有关。在该疾病的背景下,提到了七价肺炎球菌结合疫苗和免疫因子。附属组织包括睾丸和乳腺,相关表型为智力障碍和肌张力低下。
Related ID:
MALACARDS:49X002
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
1-9/1000000
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--
--
49X002
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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