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。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
No Data Found!
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