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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:abnormal chest morphology
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Accession:MP:0004134 term browser browse the term
Definition:any structural anomaly of the part of the body between the neck and the abdomen
Synonyms:exact_synonym: abnormal thorax morphology


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abnormal chest morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh2 aldehyde dehydrogenase 2, mitochondrial IAGP MGI PMID:21734703 NCBI chr 5:121,704,090...121,731,887
Ensembl chr 5:121,704,090...121,731,887 		JBrowse link
G Cbfb core binding factor beta IAGP MGI PMID:12434152 NCBI chr 8:105,897,306...105,944,621
Ensembl chr 8:105,897,306...105,944,621 		JBrowse link
G Cilk1 ciliogenesis associated kinase 1 IAGP MGI PMID:29098359 NCBI chr 9:78,016,425...78,079,396
Ensembl chr 9:78,016,474...78,079,389 		JBrowse link
G Col2a1 collagen, type II, alpha 1 IAGP MGI PMID:11680679 PMID:12814946 PMID:24475193 NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
G Fancd2 Fanconi anemia, complementation group D2 IAGP MGI PMID:21734703 NCBI chr 6:113,508,622...113,573,981
Ensembl chr 6:113,508,643...113,573,978 		JBrowse link
G Hoxb4 homeobox B4 IAGP MGI PMID:8097432 NCBI chr11:96,209,093...96,212,464
Ensembl chr11:96,209,093...96,212,464 		JBrowse link
G Hspg2 perlecan (heparan sulfate proteoglycan 2) IAGP MGI PMID:12814946 NCBI chr 4:137,196,062...137,297,941
Ensembl chr 4:137,196,080...137,297,941 		JBrowse link
G Ilk integrin linked kinase IAGP MGI PMID:12671688 NCBI chr 7:105,385,797...105,392,132
Ensembl chr 7:105,385,799...105,392,132 		JBrowse link
G Loxl3 lysyl oxidase-like 3 IAGP MGI PMID:26307084 NCBI chr 6:83,011,186...83,029,547
Ensembl chr 6:83,011,154...83,029,543 		JBrowse link
G Mbtps1 membrane-bound transcription factor peptidase, site 1 IAGP MGI PMID:18025304 NCBI chr 8:120,234,890...120,285,603
Ensembl chr 8:120,234,895...120,285,474 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 IAGP MGI PMID:21339643 NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Slc35d1 solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 IAGP MGI PMID:17952091 NCBI chr 4:103,027,846...103,078,208
Ensembl chr 4:103,027,846...103,072,361 		JBrowse link
G Tbx18 T-box18 IAGP MGI PMID:24016759 NCBI chr 9:87,584,853...87,613,313
Ensembl chr 9:87,584,853...87,613,313 		JBrowse link
G Tsc1 TSC complex subunit 1 IAGP MGI PMID:28523278 NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179 		JBrowse link
abnormal thoracic cavity morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator IAGP MGI PMID:19356224 NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605 		JBrowse link
G Cacna1s calcium channel, voltage-dependent, L type, alpha 1S subunit IAGP MGI PMID:14300095 NCBI chr 1:135,980,549...136,047,268
Ensembl chr 1:135,980,488...136,047,560 		JBrowse link
G Creb3l2 cAMP responsive element binding protein 3-like 2 IAGP MGI PMID:19767744 NCBI chr 6:37,307,956...37,419,083
Ensembl chr 6:37,304,190...37,419,081 		JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 IEA MGI NCBI chr12:117,841,717...118,162,778
Ensembl chr12:117,841,717...118,162,778 		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 Ifng interferon gamma IAGP MGI PMID:9765476 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Lama5 laminin, alpha 5 IEA MGI NCBI chr 2:179,818,166...179,867,652
Ensembl chr 2:179,818,166...179,867,652 		JBrowse link
G Nckap1l NCK associated protein 1 like IAGP MGI PMID:19015308 NCBI chr15:103,362,219...103,411,288
Ensembl chr15:103,362,221...103,407,237 		JBrowse link
G Nkx2-1 NK2 homeobox 1 IAGP MGI PMID:10208743 NCBI chr12:56,578,741...56,583,570
Ensembl chr12:56,578,743...56,583,693 		JBrowse link
G Nkx3-2 NK3 homeobox 2 IAGP MGI PMID:10572046 NCBI chr 5:41,918,826...41,921,563
Ensembl chr 5:41,918,826...41,921,844 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 IAGP MGI PMID:24082121 NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474 		JBrowse link
G Ptch1 patched 1 IAGP MGI PMID:8830098 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		JBrowse link
G Wnt5a wingless-type MMTV integration site family, member 5A IEA MGI NCBI chr14:28,224,962...28,249,405
Ensembl chr14:28,226,707...28,249,405 		JBrowse link
barrel chest term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccn3 cellular communication network factor 3 IAGP MGI PMID:18289368 NCBI chr15:54,609,306...54,617,158
Ensembl chr15:54,609,098...54,617,435 		JBrowse link
G Nkx3-2 NK3 homeobox 2 IAGP MGI PMID:10572046 NCBI chr 5:41,918,826...41,921,563
Ensembl chr 5:41,918,826...41,921,844 		JBrowse link
G Sox11 SRY (sex determining region Y)-box 11 IAGP MGI PMID:15254231 NCBI chr12:27,384,267...27,392,717
Ensembl chr12:27,384,263...27,392,573 		JBrowse link
enlarged chest term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 IAGP MGI PMID:10097121 NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Hdac1 histone deacetylase 1 IAGP MGI PMID:23287868 NCBI chr 4:129,409,897...129,436,516
Ensembl chr 4:129,409,897...129,436,506 		JBrowse link
G Hdac2 histone deacetylase 2 IAGP MGI PMID:23287868 NCBI chr10:36,850,293...36,877,885
Ensembl chr10:36,850,540...36,877,885 		JBrowse link
G Nf1 neurofibromin 1 IAGP MGI PMID:7926784 NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
G Prkcq protein kinase C, theta IAGP MGI PMID:15592506 NCBI chr 2:11,176,922...11,306,033
Ensembl chr 2:11,176,919...11,306,033 		JBrowse link
enlarged thoracic cavity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 IAGP MGI PMID:176891 NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Pdgfa platelet derived growth factor, alpha IAGP MGI PMID:8681381 NCBI chr 5:138,961,769...138,986,336
Ensembl chr 5:138,961,769...138,983,125 		JBrowse link
pectus carinatum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 IAGP MGI PMID:21339643 NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
pectus excavatum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccn2 cellular communication network factor 2 IAGP MGI PMID:12736220 NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 IAGP MGI PMID:19383940 NCBI chr 5:108,842,051...108,854,816
Ensembl chr 5:108,840,248...108,854,790 		JBrowse link
G Idh1 isocitrate dehydrogenase 1 (NADP+), soluble IAGP MGI PMID:25730874 NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 IAGP MGI PMID:21339643 NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle IAGP MGI PMID:16284304 NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604 		JBrowse link
G Sox5 SRY (sex determining region Y)-box 5 IAGP MGI PMID:11702786 NCBI chr 6:143,774,151...144,728,008
Ensembl chr 6:143,774,151...144,727,703 		JBrowse link
small thoracic cavity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan IAGP MGI PMID:2682579 NCBI chr 7:78,702,974...78,764,847
Ensembl chr 7:78,703,231...78,764,847 		JBrowse link
G Atr ataxia telangiectasia and Rad3 related IAGP MGI PMID:19620979 NCBI chr 9:95,739,650...95,834,813
Ensembl chr 9:95,739,650...95,833,834 		JBrowse link
G Ccn2 cellular communication network factor 2 IAGP MGI PMID:12736220 NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581 		JBrowse link
G Ccp110 centriolar coiled coil protein 110 IAGP MGI PMID:26965371 NCBI chr 7:118,311,740...118,336,247
Ensembl chr 7:118,311,775...118,336,247 		JBrowse link
G Cisd2 CDGSH iron sulfur domain 2 IAGP MGI PMID:19451219 NCBI chr 3:135,112,173...135,129,194
Ensembl chr 3:135,112,173...135,129,686 		JBrowse link
G Fgf18 fibroblast growth factor 18 IAGP MGI PMID:11937493 PMID:11937494 NCBI chr11:33,066,970...33,097,400
Ensembl chr11:33,067,430...33,097,400 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 IAGP MGI PMID:8630492 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 IAGP MGI PMID:19383940 NCBI chr 5:108,842,051...108,854,816
Ensembl chr 5:108,840,248...108,854,790 		JBrowse link
G Itpk1 inositol 1,3,4-triphosphate 5/6 kinase IAGP MGI PMID:19482943 NCBI chr12:102,534,842...102,671,128
Ensembl chr12:102,534,841...102,671,189 		JBrowse link
G Pax3 paired box 3 IAGP MGI PMID:31241461 NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771 		JBrowse link
G Pthlh parathyroid hormone-like peptide IAGP MGI PMID:11316774 PMID:15162506 NCBI chr 6:147,153,607...147,165,511
Ensembl chr 6:147,153,599...147,165,681 		JBrowse link
G Rbfox2 RNA binding protein, fox-1 homolog (C. elegans) 2 IAGP MGI PMID:31241461 NCBI chr15:76,963,190...77,193,058
Ensembl chr15:76,963,190...77,191,204 		JBrowse link
G Ripply2 ripply transcriptional repressor 2 IAGP MGI PMID:17531978 NCBI chr 9:86,897,590...86,902,494
Ensembl chr 9:86,897,590...86,901,970 		JBrowse link
G Smad4 SMAD family member 4 IAGP MGI PMID:24006258 NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851 		JBrowse link
G Tmem163 transmembrane protein 163 IAGP MGI PMID:11316774 NCBI chr 1:127,418,079...127,605,758
Ensembl chr 1:127,414,283...127,607,285 		JBrowse link
G Trp53 transformation related protein 53 IAGP MGI PMID:19620979 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Uncx UNC homeobox IAGP MGI PMID:10804169 NCBI chr 5:139,529,620...139,533,934
Ensembl chr 5:139,529,249...139,533,934 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16438
    growth/size/body region phenotype 6812
      abnormal chest morphology 55
        abnormal thoracic cavity morphology + 32
        enlarged chest + 8
        pectus carinatum 1
        pectus excavatum 6
paths to the root