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:
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

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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