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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
Chorea, Benign Hereditary (BHC)
Alias:
Benign Hereditary Chorea
Bhc
Chorea, Hereditary Benign
Benign Familial Chorea
Hereditary Progressive Chorea Without Dementia
Hereditary Chorea Without Dementia
Chorea, Hereditary, Benign
Chorea Benign Hereditary
Chorea, Benign Familial
Bche Deficiency
Bch
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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
舞蹈病,良性遗传,又名良性遗传舞蹈病,与舞蹈病、先天性甲状腺功能减退症有关,伴有或不伴有肺功能障碍和nkx2-1相关疾病。与良性遗传舞蹈病有关的重要基因是NKX2-1(NK2同源盒1)。相关组织包括肺和甲状腺,相关表型为步态障碍和运动异常
Related ID:
MALACARDS:CHR630
OMIM:118700
MESH:D002819
ICD11:829618737
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
婴儿期
--
3
30
80
CHR630
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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