Details of Disease

General Information of Disease (ID: DISKZ3NX)

Disease Name Diaphragmatic hernia 3
Synonyms DIH3; diaphragmatic hernia 3; diaphragmatic hernia type 3; congenital diaphragmatic hernia caused by mutation in ZFPM2; ZFPM2 congenital diaphragmatic hernia
Definition Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene.
Disease Hierarchy
DIS0IPVU: Congenital diaphragmatic hernia
DISKZ3NX: Diaphragmatic hernia 3
Disease Identifiers
MONDO ID
MONDO_0012431
MESH ID
C565710
UMLS CUI
C1857781
OMIM ID
610187
MedGen ID
347546

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ZFPM2 OTBBEWEO Strong Autosomal dominant [1]
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References

1 Fog2 is required for normal diaphragm and lung development in mice and humans. PLoS Genet. 2005 Jul;1(1):58-65. doi: 10.1371/journal.pgen.0010010. Epub 2005 Jun 17.