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Human Disease and Mouse Model Detail
Human Disease Diaphragmatic Hernia, Congenital
OMIM ID: 142340
Human Phenotype Ontology associations
Synonyms Diaphragm, Unilateral Agenesis of; Diaphragmatic Defect, Congenital; Diaphragmatic Hernia; Dih; Hernia, Congenital Diaphragmatic; HCD; CDH
View all models View ALL (14) mouse models for this human disease.
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     FREM1 Frem1* View 1 model HomoloGene and HGNC
GATA4 Gata4* View 2 models HomoloGene
KIF7 Kif7* View 1 model HomoloGene and HGNC
LRP1 Lrp1* View 1 model HomoloGene
NDST1 Ndst1* View 1 model HomoloGene and HGNC
NR2F2 Nr2f2* View 1 model HomoloGene and HGNC
PDGFRA Pdgfra* View 1 model HomoloGene and HGNC
SLIT3 Slit3* View 4 models HomoloGene and HGNC
SOX7 Sox7* View 1 model HomoloGene
ZFPM2 Zfpm2* View 1 model HomoloGene and HGNC
References Disease References using Mouse Models (12)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.05
The Jackson Laboratory