Aplasia Cutis Congenita with Intestinal Lymphangiectasia

Alias:
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Aplasia Cutis Congenita Intestinal Lymphangiectasia
Bronspiegel-Zelnick Syndrome
Acc with Intestinal Lymphangiectasia
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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
先天性皮肤缺损伴肠淋巴管扩张症,也称为先天性皮肤缺损-肠淋巴管扩张症综合征。附属组织包括皮肤,相关表型为淋巴水肿和双侧单横纹掌纹

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
--
--
1

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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