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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
Hypoparathyroidism
Alias:
Hypoparathyroidism Due to Impaired Pth - [parathyroid Hormone] Secretion
Deficiency of Parathyroid Hormone
Syndrome with Hypoparathyroidism
Parathyroid Gland Insufficiency
Parathyroid Insufficiency
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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
甲状旁腺功能减退症,也被称为甲状旁腺激素缺乏症,与甲状旁腺功能减退-发育迟缓-畸形综合症和X连锁甲状旁腺功能减退症有关。与甲状旁腺功能减退症相关的基因是GCM2(神经胶质细胞缺失转录因子2),其相关通路/超级通路包括信号转导和软骨化骨与骨骼发育不良。在该疾病的背景下,已经提到了贝美前列素和柠檬酸钠。附属组织包括甲状腺和肾脏,相关表型包括稳态/新陈代谢和生长/大小/身体部位。
Related ID:
MALACARDS:HYP024
MESH:D007011
ICD11:129706072
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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28
366
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HYP024
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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