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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:megacolon
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Accession:MP:0002731 term browser browse the term
Definition:extreme dilation of the colon
Synonyms:exact_synonym: giant colon



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megacolon term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anp32b acidic nuclear phosphoprotein 32 family member B IAGP MGI PMID:21636789 NCBI chr 4:46,450,926...46,472,657
Ensembl chr 4:46,450,902...46,472,657
JBrowse link
G Araf Araf proto-oncogene, serine/threonine kinase IAGP MGI PMID:8805280 NCBI chr  X:20,663,946...20,726,760
Ensembl chr  X:20,664,053...20,726,758
JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase IAGP MGI PMID:20592216 NCBI chr11:100,465,765...100,472,565
Ensembl chr11:100,465,730...100,482,555
JBrowse link
G Dact1 dishevelled-binding antagonist of beta-catenin 1 IAGP MGI PMID:19701191 NCBI chr12:71,356,658...71,366,881
Ensembl chr12:71,356,658...71,366,881
JBrowse link
G Edn3 endothelin 3 IAGP MGI PMID:5917257 PMID:14138974 NCBI chr 2:174,602,412...174,625,835
Ensembl chr 2:174,602,412...174,625,835
JBrowse link
G Ednrb endothelin receptor type B IAGP MGI PMID:2304907 PMID:5917257 PMID:9371807 PMID:10591209 PMID:11773966 More... NCBI chr14:104,052,055...104,081,764
Ensembl chr14:104,052,061...104,081,838
JBrowse link
G Gdnf glial cell line derived neurotrophic factor IAGP MGI PMID:11774071 NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056
JBrowse link
G Gnai2 G protein subunit alpha i2 IAGP MGI PMID:8613481 NCBI chr 9:107,491,324...107,512,542
Ensembl chr 9:107,491,324...107,512,566
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 IAGP MGI PMID:20187849 NCBI chr  X:52,076,955...52,110,537
Ensembl chr  X:52,077,014...52,110,536
JBrowse link
G Ihh Indian hedgehog IAGP MGI PMID:10821773 NCBI chr 1:74,984,474...74,990,831
Ensembl chr 1:74,984,474...74,990,831
JBrowse link
G Kif26a kinesin family member 26A IAGP MGI PMID:19914172 NCBI chr12:112,109,378...112,148,181
Ensembl chr12:112,112,642...112,148,181
JBrowse link
G Nup35 nucleoporin 35 IAGP MGI PMID:27427419 NCBI chr 2:80,469,156...80,490,415
Ensembl chr 2:80,447,580...80,489,250
JBrowse link
G Ppia peptidylprolyl isomerase A IEA MGI NCBI chr11:6,365,867...6,369,817
Ensembl chr11:6,365,443...6,369,817
JBrowse link
G Pten phosphatase and tensin homolog IAGP MGI PMID:20592216 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) IAGP MGI PMID:18250470 NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
JBrowse link
G Sall4 spalt like transcription factor 4 IAGP MGI PMID:16790473 NCBI chr 2:168,590,252...168,609,121
Ensembl chr 2:168,590,252...168,609,863
JBrowse link
G Slc9a3 solute carrier family 9 (sodium/hydrogen exchanger), member 3 IAGP MGI PMID:9662405 NCBI chr13:74,234,374...74,317,561
Ensembl chr13:74,269,576...74,317,561
JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP MGI PMID:21518954 NCBI chr19:26,582,578...26,755,721
Ensembl chr19:26,582,450...26,755,722
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP MGI PMID:21518954 NCBI chr 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526
JBrowse link
G Sox10 SRY (sex determining region Y)-box 10 IAGP MGI PMID:6512238 PMID:11156606 PMID:15493017 PMID:20187849 PMID:25399070 More... NCBI chr15:79,039,113...79,048,690
Ensembl chr15:79,039,108...79,049,440
JBrowse link
G Srpk3 serine/arginine-rich protein specific kinase 3 IEA MGI NCBI chr  X:72,818,011...72,822,531
Ensembl chr  X:72,818,011...72,822,531
JBrowse link
G St14 suppression of tumorigenicity 14 (colon carcinoma) IAGP MGI PMID:19717635 NCBI chr 9:30,999,886...31,043,138
Ensembl chr 9:31,000,698...31,043,149
JBrowse link
G Tlx2 T cell leukemia, homeobox 2 IAGP MGI PMID:9176491 PMID:9259577 PMID:15803212 NCBI chr 6:83,045,306...83,047,206
Ensembl chr 6:83,045,305...83,047,274
JBrowse link
G Tmem248 transmembrane protein 248 IEA MGI NCBI chr 5:130,248,585...130,272,606
Ensembl chr 5:130,245,922...130,272,606
JBrowse link
aganglionic megacolon term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aebp2 AE binding protein 2 IAGP MGI PMID:21949878 NCBI chr 6:140,567,480...140,624,198
Ensembl chr 6:140,546,644...140,713,010
JBrowse link
G Edn3 endothelin 3 IAGP MGI PMID:8001160 NCBI chr 2:174,602,412...174,625,835
Ensembl chr 2:174,602,412...174,625,835
JBrowse link
G Ednrb endothelin receptor type B IAGP MGI PMID:8001159 PMID:18693272 NCBI chr14:104,052,055...104,081,764
Ensembl chr14:104,052,061...104,081,838
JBrowse link
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano IAGP MGI PMID:18693272 NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,055,336
JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:17553423 PMID:18693272 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443
JBrowse link
G Ihh Indian hedgehog IAGP MGI PMID:10821773 NCBI chr 1:74,984,474...74,990,831
Ensembl chr 1:74,984,474...74,990,831
JBrowse link
G Itgb1 integrin beta 1 (fibronectin receptor beta) IAGP MGI PMID:16571628 NCBI chr 8:129,412,135...129,460,060
Ensembl chr 8:129,412,135...129,459,681
JBrowse link
G Nfatc3 nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 3 IAGP MGI PMID:16554754 NCBI chr 8:106,785,450...106,857,169
Ensembl chr 8:106,785,472...106,857,169
JBrowse link
G Nfatc4 nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 4 IAGP MGI PMID:16554754 NCBI chr14:56,062,252...56,071,400
Ensembl chr14:56,060,601...56,071,400
JBrowse link
G Ret ret proto-oncogene IAGP MGI PMID:17553423 PMID:18414682 NCBI chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679
JBrowse link
G Sox10 SRY (sex determining region Y)-box 10 IAGP MGI PMID:15843399 PMID:16586440 PMID:17699610 PMID:20739296 NCBI chr15:79,039,113...79,048,690
Ensembl chr15:79,039,108...79,049,440
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16975
    digestive/alimentary phenotype 1918
      abnormal digestive system morphology 1573
        abnormal intestine morphology 746
          abnormal large intestine morphology 336
            abnormal colon morphology 214
              megacolon 35
                aganglionic megacolon 15
                toxic megacolon 0
paths to the root