MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
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expandcongenital nervous system disorder (MONDO:0002320)
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expanddiaphragm disease (MONDO:0005728)
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expandnon-syndromic diaphragmatic or abdominal wall malformation (MONDO:0015215)
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expandnon-syndromic diaphragmatic or thoracic malformation (MONDO:0015879)
Parent Node:
expandrare pulmonary disease (MONDO:0015118)
..Starting node
..expandcongenital diaphragmatic hernia ()

       Child Nodes:
........expanddiaphragmatic hernia 2 ()
........expanddiaphragmatic hernia 3 ()
........expanddiaphragmatic hernia, congenital 1 ()
........expandhernia, anterior diaphragmatic ()



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..expandacute lung injury ()
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..expandalpha 1-antitrypsin deficiency ()
..expandavian influenza ()
..expandcongenital diaphragmatic hernia ()
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Further data from MedGen, OMIM,ClinVar, CTD
Term ID:5711
Name:congenital diaphragmatic hernia
Definition: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.
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Synonyms:agenesis of hemidiaphragm; CDH; congenital diaphragmatic defect; diaphragmatic hernia; unilateral agenesis of diaphragm
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Reference: MedGen:
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OMIM:
MSeqDR LSDB:  
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Disease Causing ClinVar Variants
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