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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 midface morphology
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Accession:MP:0030095 term browser browse the term
Definition:any structural anomaly of the midface region which extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base; it is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region; traditionally, the nose and premaxilla are not included in the midface
Synonyms:exact_synonym: abnormal midfacial region morphology;   midface abnormalities
 narrow_synonym: midface malformation


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abnormal midface morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd11 ankyrin repeat domain 11 IAGP MGI PMID:33996804 NCBI chr 8:123,610,060...123,769,023
Ensembl chr 8:123,610,561...123,769,016 		JBrowse link
G E2f1 E2F transcription factor 1 IAGP MGI PMID:33996804 NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812 		JBrowse link
G Fgf8 fibroblast growth factor 8 IAGP MGI PMID:25381013 NCBI chr19:45,724,930...45,731,506
Ensembl chr19:45,725,237...45,731,354 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 IAGP MGI PMID:18242159 PMID:28123344 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Frem1 Fras1 related extracellular matrix protein 1 IAGP MGI PMID:21931569 NCBI chr 4:82,816,157...82,970,743
Ensembl chr 4:82,816,157...82,970,576 		JBrowse link
G Grhl2 grainyhead like transcription factor 2 IAGP MGI PMID:21377456 NCBI chr15:37,233,065...37,363,813
Ensembl chr15:37,233,280...37,363,813 		JBrowse link
G Mmp14 matrix metallopeptidase 14 (membrane-inserted) IAGP MGI PMID:18022611 NCBI chr14:54,669,055...54,679,913
Ensembl chr14:54,669,069...54,682,821 		JBrowse link
G Mmp16 matrix metallopeptidase 16 IAGP MGI PMID:18022611 NCBI chr 4:17,853,072...18,117,479
Ensembl chr 4:17,852,893...18,119,145 		JBrowse link
G Nosip nitric oxide synthase interacting protein IAGP MGI PMID:25546391 NCBI chr 7:44,711,840...44,727,927
Ensembl chr 7:44,711,853...44,727,634 		JBrowse link
G Nubp2 nucleotide binding protein 2 IAGP MGI PMID:31733190 NCBI chr17:25,101,585...25,105,423
Ensembl chr17:25,101,585...25,105,323 		JBrowse link
G Pak1ip1 PAK1 interacting protein 1 IAGP MGI PMID:23935987 NCBI chr13:41,154,486...41,166,509
Ensembl chr13:41,154,499...41,166,491 		JBrowse link
G Ryk receptor-like tyrosine kinase IAGP MGI PMID:10932185 NCBI chr 9:102,712,119...102,785,506
Ensembl chr 9:102,712,116...102,785,504 		JBrowse link
G Six1 sine oculis-related homeobox 1 IAGP MGI PMID:21364285 NCBI chr12:73,088,601...73,093,486
Ensembl chr12:73,086,789...73,100,661 		JBrowse link
G Tfap2a transcription factor AP-2, alpha IAGP MGI PMID:25381013 NCBI chr13:40,867,278...40,891,715
Ensembl chr13:40,868,778...40,891,852 		JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 IAGP MGI PMID:17082251 NCBI chr17:71,151,200...71,160,527
Ensembl chr17:71,151,200...71,160,541 		JBrowse link
G Vax1 ventral anterior homeobox 1 IAGP MGI PMID:28771384 NCBI chr19:59,152,912...59,158,829
Ensembl chr19:59,154,619...59,158,488 		JBrowse link
G Wdr11 WD repeat domain 11 IAGP MGI PMID:29263200 NCBI chr 7:129,193,373...129,237,462
Ensembl chr 7:129,193,587...129,237,462 		JBrowse link
abnormal buccinator muscle morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxb1 homeobox B1 IAGP MGI PMID:8898234 NCBI chr11:96,256,572...96,259,080
Ensembl chr11:96,256,578...96,259,082 		JBrowse link
abnormal zygomaticus muscle morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxb1 homeobox B1 IAGP MGI PMID:8898234 NCBI chr11:96,256,572...96,259,080
Ensembl chr11:96,256,578...96,259,082 		JBrowse link
absent zygomaticus muscle term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa1 homeobox A1 IAGP MGI PMID:10529420 NCBI chr 6:52,132,347...52,135,297
Ensembl chr 6:52,132,570...52,135,297 		JBrowse link
G Hoxb1 homeobox B1 IAGP MGI PMID:10529420 NCBI chr11:96,256,572...96,259,080
Ensembl chr11:96,256,578...96,259,082 		JBrowse link
midface hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx1 ALX homeobox 1 IAGP MGI PMID:35127681 NCBI chr10:102,843,708...102,865,501
Ensembl chr10:102,834,568...102,866,076 		JBrowse link
G Ankrd11 ankyrin repeat domain 11 IAGP MGI PMID:33996804 NCBI chr 8:123,610,060...123,769,023
Ensembl chr 8:123,610,561...123,769,016 		JBrowse link
G Bcl11b B cell leukemia/lymphoma 11B IAGP MGI PMID:23727454 NCBI chr12:107,876,662...107,970,404
Ensembl chr12:107,876,662...107,969,861 		JBrowse link
G Bmp7 bone morphogenetic protein 7 IAGP MGI PMID:33431521 NCBI chr 2:172,709,805...172,782,114
Ensembl chr 2:172,709,805...172,782,114 		JBrowse link
G Bmpr1a bone morphogenetic protein receptor, type 1A IAGP MGI PMID:20730911 NCBI chr14:34,133,018...34,225,335
Ensembl chr14:34,132,691...34,225,298 		JBrowse link
G Cdk13 cyclin-dependent kinase 13 IAGP MGI PMID:31440507 NCBI chr13:17,885,309...17,979,960
Ensembl chr13:17,884,900...17,979,682 		JBrowse link
G Col2a1 collagen, type II, alpha 1 IAGP MGI PMID:20730911 NCBI chr15:97,873,483...97,902,722
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
G Dicer1 dicer 1, ribonuclease type III IAGP MGI PMID:23716939 NCBI chr12:104,653,999...104,718,227
Ensembl chr12:104,654,001...104,718,211 		JBrowse link
G E2f1 E2F transcription factor 1 IAGP MGI PMID:33996804 NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812 		JBrowse link
G E330023G01Rik RIKEN cDNA E330023G01 gene IAGP MGI PMID:24565867 NCBI chr 9:98,630,652...98,702,140
Ensembl chr 9:98,630,652...98,702,140 		JBrowse link
G Fgf9 fibroblast growth factor 9 IAGP MGI PMID:12140681 NCBI chr14:58,308,131...58,350,311
Ensembl chr14:58,308,004...58,350,177 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 IAGP MGI PMID:10942429 PMID:21538817 NCBI chr 8:26,008,775...26,065,734
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 IAGP MGI PMID:14499350 PMID:18242159 PMID:21538817 PMID:22585574 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 IAGP MGI PMID:19073250 PMID:28230213 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 Frem1 Fras1 related extracellular matrix protein 1 IAGP MGI PMID:21507892 PMID:21931569 NCBI chr 4:82,816,157...82,970,743
Ensembl chr 4:82,816,157...82,970,576 		JBrowse link
G Gas1 growth arrest specific 1 IAGP MGI PMID:17525797 NCBI chr13:60,322,219...60,325,349
Ensembl chr13:60,322,219...60,325,179 		JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:22156581 PMID:33431521 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
G Hcfc1 host cell factor C1 IAGP MGI PMID:35013307 NCBI chr  X:72,986,398...73,011,430
Ensembl chr  X:72,986,398...73,009,963 		JBrowse link
G Ift27 intraflagellar transport 27 IAGP MGI PMID:25446516 NCBI chr15:78,043,660...78,058,281
Ensembl chr15:78,043,663...78,058,307 		JBrowse link
G Jag1 jagged 1 IAGP MGI PMID:22156581 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564 		JBrowse link
G Nipbl NIPBL cohesin loading factor IAGP MGI PMID:19763162 NCBI chr15:8,319,308...8,494,799
Ensembl chr15:8,320,101...8,473,947 		JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 IAGP MGI PMID:14745966 NCBI chr13:53,263,353...53,440,160
Ensembl chr13:53,263,348...53,440,160 		JBrowse link
preauricular pit term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 IAGP MGI PMID:10471511 NCBI chr 1:14,239,177...14,381,259
Ensembl chr 1:14,239,178...14,380,459 		JBrowse link
prominent cheeks term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednra endothelin receptor type A IAGP MGI PMID:27671791 NCBI chr 8:78,389,658...78,451,081
Ensembl chr 8:78,389,660...78,451,093 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16239
    growth/size/body region phenotype 6687
      abnormal head morphology 1260
        abnormal facial morphology 1048
          abnormal midface morphology 40
            abnormal cheek morphology + 3
            abnormal periauricular region morphology + 1
            midface hypoplasia 23
paths to the root