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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term:diaphragmatic hernia
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Accession:MP:0003924 term browser browse the term
Definition:protrusion of abdominal contents into the thoracic cavity through a hole in the diaphragm
Synonyms:exact_synonym: herniated diaphragm
 narrow_synonym: congenital diaphragmatic hernia
 xref: EFO:0008561


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diaphragmatic hernia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chat choline O-acetyltransferase IAGP MGI PMID:12441053 NCBI chr14:32,130,160...32,187,866
Ensembl chr14:32,130,160...32,187,946 		JBrowse link
G Chtop chromatin target of PRMT1 IEA MGI NCBI chr 3:90,405,846...90,417,400
Ensembl chr 3:90,406,263...90,416,805 		JBrowse link
G Dnase2a deoxyribonuclease II alpha IAGP MGI PMID:12181746 NCBI chr 8:85,635,384...85,638,332
Ensembl chr 8:85,635,189...85,649,544 		JBrowse link
G Efemp2 epidermal growth factor-containing fibulin-like extracellular matrix protein 2 IAGP MGI PMID:19855011 NCBI chr19:5,523,974...5,532,548
Ensembl chr19:5,523,982...5,532,545 		JBrowse link
G Fbn1 fibrillin 1 IAGP MGI PMID:10097121 PMID:16407178 NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Fgf10 fibroblast growth factor 10 IAGP MGI PMID:12388344 NCBI chr13:118,851,199...118,928,651
Ensembl chr13:118,806,327...118,928,651 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 IAGP MGI PMID:17986259 NCBI chr 5:108,842,051...108,854,816
Ensembl chr 5:108,840,248...108,854,790 		JBrowse link
G Foxh1 forkhead box H1 IEA MGI NCBI chr15:76,552,029...76,554,286
Ensembl chr15:76,552,425...76,554,148 		JBrowse link
G Frem1 Fras1 related extracellular matrix protein 1 IAGP MGI PMID:23221805 NCBI chr 4:82,816,157...82,970,743
Ensembl chr 4:82,816,164...82,970,576 		JBrowse link
G Frem2 Fras1 related extracellular matrix protein 2 IEA MGI NCBI chr 3:53,421,359...53,566,014
Ensembl chr 3:53,421,359...53,564,776 		JBrowse link
G Fuz fuzzy planar cell polarity protein IEA MGI NCBI chr 7:44,545,517...44,552,053
Ensembl chr 7:44,545,503...44,552,055 		JBrowse link
G Gata4 GATA binding protein 4 IAGP MGI PMID:17069789 PMID:22723016 PMID:25807280 NCBI chr14:63,436,363...63,509,161
Ensembl chr14:63,436,371...63,509,141 		JBrowse link
G Hlx H2.0-like homeobox IAGP MGI PMID:8557196 NCBI chr 1:184,459,340...184,464,690
Ensembl chr 1:184,459,337...184,464,816 		JBrowse link
G Hoxb4 homeobox B4 IAGP MGI PMID:8097432 PMID:11518511 NCBI chr11:96,209,093...96,212,464
Ensembl chr11:96,209,093...96,212,464 		JBrowse link
G Kif7 kinesin family member 7 IAGP MGI PMID:23650387 NCBI chr 7:79,347,846...79,365,520
Ensembl chr 7:79,347,846...79,365,468 		JBrowse link
G Kl klotho IEA MGI NCBI chr 5:150,876,072...150,917,282
Ensembl chr 5:150,876,072...150,917,282 		JBrowse link
G Lox lysyl oxidase IAGP MGI PMID:12473682 PMID:16192629 NCBI chr18:52,649,132...52,662,939
Ensembl chr18:52,649,139...52,662,939 		JBrowse link
G Lrp1 low density lipoprotein receptor-related protein 1 IEA MGI NCBI chr10:127,374,026...127,457,158
Ensembl chr10:127,374,030...127,457,017 		JBrowse link
G Met met proto-oncogene IAGP MGI PMID:12388344 NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979 		JBrowse link
G Morc2a microrchidia 2A IEA MGI NCBI chr11:3,599,132...3,640,477
Ensembl chr11:3,599,191...3,640,477 		JBrowse link
G Msc musculin IAGP MGI PMID:12493912 NCBI chr 1:14,823,570...14,826,216
Ensembl chr 1:14,823,570...14,826,216 		JBrowse link
G Myh10 myosin, heavy polypeptide 10, non-muscle IAGP MGI PMID:24825879 NCBI chr11:68,581,228...68,707,451
Ensembl chr11:68,582,385...68,707,458 		JBrowse link
G Ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 IAGP MGI PMID:24355925 NCBI chr18:60,817,566...60,907,465
Ensembl chr18:60,817,566...60,881,722 		JBrowse link
G Pbx1 pre B cell leukemia homeobox 1 IAGP MGI PMID:22315423 NCBI chr 1:167,946,933...168,259,898
Ensembl chr 1:167,946,933...168,259,839 		JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide IAGP MGI PMID:17568391 NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876 		JBrowse link
G Pls3 plastin 3 (T-isoform) IAGP MGI PMID:37751738 NCBI chr  X:74,829,259...74,918,788
Ensembl chr  X:74,829,260...74,918,788 		JBrowse link
G Rara retinoic acid receptor, alpha IAGP MGI PMID:9240560 NCBI chr11:98,818,626...98,865,768
Ensembl chr11:98,818,644...98,865,768 		JBrowse link
G Rarb retinoic acid receptor, beta IAGP MGI PMID:9240560 NCBI chr14:5,387,365...6,038,924
Ensembl chr14:5,650,540...6,038,924 		JBrowse link
G Robo1 roundabout guidance receptor 1 IAGP MGI PMID:23328398 NCBI chr16:71,824,406...72,844,379
Ensembl chr16:72,105,194...72,842,983 		JBrowse link
G Robo2 roundabout guidance receptor 2 IAGP MGI PMID:23328398 NCBI chr16:73,688,725...75,244,331
Ensembl chr16:73,688,727...74,889,765 		JBrowse link
G Robo4 roundabout guidance receptor 4 IAGP MGI PMID:24355925 NCBI chr 9:37,313,198...37,325,319
Ensembl chr 9:37,313,193...37,326,411 		JBrowse link
G Sh3pxd2a SH3 and PX domains 2A IEA MGI NCBI chr19:47,248,613...47,453,053
Ensembl chr19:47,248,613...47,452,840 		JBrowse link
G Slit3 slit guidance ligand 3 IAGP MGI PMID:12702769 PMID:14550534 PMID:24355925 NCBI chr11:35,012,283...35,599,334
Ensembl chr11:35,012,051...35,599,334 		JBrowse link
G Sox7 SRY (sex determining region Y)-box 7 IAGP MGI PMID:22723016 NCBI chr14:64,181,155...64,188,181
Ensembl chr14:64,181,122...64,188,181 		JBrowse link
G Tcf21 transcription factor 21 IAGP MGI PMID:12493912 NCBI chr10:22,693,162...22,696,042
Ensembl chr10:22,693,180...22,696,073 		JBrowse link
G Twist2 twist basic helix-loop-helix transcription factor 2 IAGP MGI PMID:23328398 NCBI chr 1:91,729,183...91,775,756
Ensembl chr 1:91,729,183...91,775,750 		JBrowse link
G Wdr35 WD repeat domain 35 IAGP MGI PMID:21473986 NCBI chr12:9,023,897...9,078,848
Ensembl chr12:9,023,892...9,078,847 		JBrowse link
G Wt1 WT1 transcription factor IAGP MGI PMID:8395349 PMID:17071579 PMID:27642710 NCBI chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16879
    muscle phenotype 1961
      abnormal muscle morphology 1446
        abnormal skeletal muscle morphology 653
          abnormal hypaxial muscle morphology 208
            abnormal diaphragm morphology 112
              diaphragmatic hernia 38
paths to the root