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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
非罕见病
Rapp-Hodgkin Syndrome (RHS)
Alias:
Rhs
Anhidrotic Ectodermal Dysplasia with Cleft Lip/palate
Rapp-Hodgkin Ectodermal Dysplasia Syndrome
Ectodermal Dysplasia, Rapp-Hodgkin Type
Ectodermal Dysplasia, Anhidrotic, with Cleft Lip/palate
Ectodermal Dysplasia Syndrome, Rapp-Hodgkin Type
Rapp-Hodgkin Ectodermal Dysplasia
Orofacial Cleft 8
Edrh
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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
拉普-霍奇金病,也称为 rhs,与外胚层发育不良和唇裂有关,症状包括厚皮症。与拉普-霍奇金病相关的基因是 TP63 (肿瘤蛋白 P63),其相关通路/超通路包括 TP53 网络。附属组织包括皮肤和舌头,相关表型包括龋齿和掌跖角化病。
Related ID:
MALACARDS:RPP001
OMIM:129400
MESH:C535289
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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26
264
22
RPP001
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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No data available
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Name
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No data available
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Category
Name
MGI
Related Gene
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Publications
No data available
References Literature
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IF
No Data Found!
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