Hairy Elbows

Alias:
Hypertrichosis Cubiti
Macdermot-Patton-Williams Syndrome
Hairy Elbows Syndrome
Mac Dermot Patton Williams Syndrome
Favorite
基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
毛肘,又称肘部多毛症,与韦德曼-斯坦纳综合症和多毛症有关。与毛肘有关的重要基因是KMT2A(精氨酸甲基转移酶2A)。附属组织包括皮肤和骨骼,相关表型为全身多毛症和微骨症。

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
<1/1000000
1
29
6

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!
微信
信息比对
科研助手
使用教程
回到顶部