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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
Spermatogenic Failure 8 (SPGF8)
Alias:
Spgf8
Spermatogenic Failure, Type 8
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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
Spermatogenic Failure 8,也被称为spgf8,与46,xy部分性性腺发育不全和45,x/46,xy混合性腺发育不全有关。与Spermatogenic Failure 8相关的基因是NR5A1(核受体亚家族5组A成员1),其相关通路/超级通路包括哺乳动物性发育障碍。相关组织包括睾丸,相关表型包括无精子症和少精子症。
Related ID:
MALACARDS:SPR042
OMIM:613957
MESH:D007248
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
14
90
2
SPR042
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Mutations
No data available
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No data available
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Category
Name
MGI
Related Gene
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Publications
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References Literature
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