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congenital diaphragmatic hernia

Disease Summary
Associated Targets (55)
Tbio

32

Tclin

13

Tchem

10


GARD Rare
Mondo Description Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.
Disease Ontology Description A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.
Mondo Term and Equivalent IDs
MONDO:0005711:  congenital diaphragmatic hernia
COHD:4066010: 
EFO:0007216: 
GARD:0001481: 
NCIT:C98893: 
Orphanet:2140: 
UMLS:C0235833: