Diaphragmatic Hernia, Congenital (CDH)

Alias:
Congenital Diaphragmatic Hernia
Diaphragmatic Hernia
Cdh
Congenital Diaphragm Defect with Hernia
Diaphragm, Unilateral Agenesis of
Gross Congenital Diaphragm Defect
Hernia, Congenital Diaphragmatic
Diaphragmatic Defect, Congenital
Congenital Diaphragmatic Defect
Hernia Diaphragmatic Congenital
Hernia, Diaphragmatic, Type 1
Congenital Diaphragm Hernia
Hemidiaphragm, Agenesis of
Oesophageal Hiatus Hernia
Diaphragmatic Hernia 1
Paraoesophageal Hernia
Hernia, Diaphragmatic
Sliding Hiatus Hernia
Hernia Diaphragmatic
Hiatus Hernia
Dih
Hcd
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Diaphragmatic Hernia, Congenital, also known as congenital diaphragmatic hernia, is related to microphthalmia, syndromic 12 and donnai-barrow syndrome. An important gene associated with Diaphragmatic Hernia, Congenital is GATA6 (GATA Binding Protein 6), and among its related pathways/superpathways are Phospholipase-C Pathway and G-protein signaling_Rap2B regulation pathway. The drugs Nitric Oxide and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include lung and heart, and related phenotypes are congenital diaphragmatic hernia and intestinal malrotation
Related ID:
MESH:D006548
ICD11:1414428936

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Newborn
1-5/10000
88
839
110

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!
Wechat
Comparison
Al agent
Tutorials
Back to top