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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
Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia (TKCR)
Alias:
Torticollis-Keloids-Cryptorchidism-Renal Dysplasia Syndrome
Goeminne Tkcr Syndrome
Goeminne Syndrome
Tkcr Syndrome
Tkcr
Tkc
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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
斜颈、疤痕疙瘩、隐睾和肾发育不良,也称为斜颈-疤痕疙瘩-隐睾-肾发育不良综合征,与斜颈和隐睾有关,单侧或双侧,并有斜颈等症状。斜颈、疤痕疙瘩、隐睾和肾发育不良的重要基因是TKCR(斜颈、疤痕疙瘩、隐睾和肾发育不良)。附属组织包括皮肤,相关表型为隐睾和黑素细胞痣
Related ID:
MALACARDS:TRT015
OMIM:314300
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X染色体
X隐
新生儿
<1/1000000
--
--
4
TRT015
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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