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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
Hyperparathyroidism 1 (HRPT1)
Alias:
Familial Isolated Hyperparathyroidism
Fihp
Hyperparathyroidism, Familial Primary
Hrpt1
Hyperparathyroidism, Familial, Isolated, Primary
Hyperparathyroidism, Familial Isolated Primary
Hyperparathyroidism, Familial Primary, Type 1
Hyperparathyroidism, Familial, Primary
Parathyroid Adenoma, Familial
Hyperparathyroidism 3
Fihpt
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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
1型甲状旁腺功能亢进,也称为孤立性家族性甲状旁腺功能亢进,与多发性内分泌肿瘤1型和伴有颌骨肿瘤的甲状旁腺功能亢进有关。与1型甲状旁腺功能亢进相关的基因是CDC73(细胞分裂周期73)。相关组织包括肾脏和骨骼,相关表型为骨质疏松和低磷血症。
Related ID:
MALACARDS:HYP243
OMIM:145000
MESH:D049950
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
成年期
--
3
27
35
HYP243
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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