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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 orbit morphology
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Accession:MP:0010030 term browser browse the term
Definition:any structural anomaly of the bony ring that supports the eyeball and supporting tissues and is formed by parts of several cranial bones
Comment:In human, the orbit is comprised of parts of seven cranial bones (frontal, maxillary, sphenoid, lacrimal, zygomatic, ethmoidal and palatine). In mouse, the orbit is comprised of parts of eight cranial bones (maxilla, lacrimal, zygomatic, frontal, temporal, sphenoid, ethmoid, and palatine).
Synonyms:exact_synonym: abnormal eye socket morphology;   abnormal orbit;   orbit abnormalities
 alt_id: MP:0005246
 xref: MA:0002482


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abnormal orbit morphology 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
G Foxc2 forkhead box C2 IAGP MGI PMID:12719382 NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634 		JBrowse link
G Hyal2 hyaluronoglucosaminidase 2 IAGP MGI PMID:18772348 NCBI chr 9:107,445,096...107,449,975
Ensembl chr 9:107,445,144...107,449,978 		JBrowse link
G Mmp14 matrix metallopeptidase 14 (membrane-inserted) IAGP MGI PMID:10520996 NCBI chr14:54,669,055...54,679,913
Ensembl chr14:54,669,069...54,682,821 		JBrowse link
G Shh sonic hedgehog IAGP MGI PMID:8270769 NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254 		JBrowse link
abnormal optic canal morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxf2 forkhead box F2 IAGP MGI PMID:12812790 NCBI chr13:31,809,686...31,815,390
Ensembl chr13:31,809,799...31,815,386 		JBrowse link
abnormal orbitosphenoid bone morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli3 GLI-Kruppel family member GLI3 IAGP MGI PMID:6049666 NCBI chr13:15,638,308...15,904,611
Ensembl chr13:15,637,820...15,904,611 		JBrowse link
G Otx1 orthodenticle homeobox 1 IAGP MGI PMID:9077465 NCBI chr11:21,944,764...21,954,044
Ensembl chr11:21,944,764...21,952,897 		JBrowse link
G Otx2 orthodenticle homeobox 2 IAGP MGI PMID:9077465 NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276 		JBrowse link
absent metoptic pillar term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 Rarg retinoic acid receptor, gamma IAGP MGI PMID:9240560 NCBI chr15:102,143,373...102,165,891
Ensembl chr15:102,143,373...102,165,952 		JBrowse link
absent orbitosphenoid bone term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dicer1 dicer 1, ribonuclease type III IAGP MGI PMID:23716939 NCBI chr12:104,654,001...104,718,331
Ensembl chr12:104,654,001...104,718,211 		JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:15107405 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
G Otx2 orthodenticle homeobox 2 IAGP MGI PMID:7590242 NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276 		JBrowse link
G Smo smoothened, frizzled class receptor IAGP MGI PMID:15107405 NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364 		JBrowse link
large orbits term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bex3 brain expressed X-linked 3 IAGP MGI PMID:33100228 NCBI chr  X:135,171,002...135,172,727
Ensembl chr  X:135,171,002...135,172,727 		JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 IAGP MGI PMID:18353862 NCBI chr13:53,263,353...53,440,160
Ensembl chr13:53,263,348...53,440,160 		JBrowse link
optic canal stenosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem53 transmembrane protein 53 IAGP MGI PMID:33824347 NCBI chr 4:117,109,148...117,125,785
Ensembl chr 4:117,109,148...117,125,779 		JBrowse link
G Tnfsf11 tumor necrosis factor (ligand) superfamily, member 11 IAGP MGI PMID:22836362 NCBI chr14:78,514,886...78,545,483
Ensembl chr14:78,514,885...78,545,483 		JBrowse link
round orbits 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
G Ltbp3 latent transforming growth factor beta binding protein 3 IEA MGI NCBI chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560 		JBrowse link
shallow orbits term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dicer1 dicer 1, ribonuclease type III IAGP MGI PMID:23716939 NCBI chr12:104,654,001...104,718,331
Ensembl chr12:104,654,001...104,718,211 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 IAGP MGI PMID:11274405 PMID:20503384 PMID:28123344 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Lmna lamin A IAGP MGI PMID:20376364 NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263 		JBrowse link
G Pthlh parathyroid hormone-like peptide IAGP MGI PMID:9751753 NCBI chr 6:147,153,607...147,165,511
Ensembl chr 6:147,153,599...147,165,681 		JBrowse link
small orbits term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:14975722 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
G Six1 sine oculis-related homeobox 1 IAGP MGI PMID:15788460 NCBI chr12:73,088,601...73,093,486
Ensembl chr12:73,086,789...73,100,661 		JBrowse link
G Six4 sine oculis-related homeobox 4 IAGP MGI PMID:15788460 NCBI chr12:73,146,383...73,160,201
Ensembl chr12:73,146,383...73,160,230 		JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 IAGP MGI PMID:15042714 NCBI chr18:60,946,827...60,982,055
Ensembl chr18:60,946,827...60,982,043 		JBrowse link
G Tfap2a transcription factor AP-2, alpha IAGP MGI PMID:14975722 NCBI chr13:40,867,278...40,891,715
Ensembl chr13:40,868,778...40,891,852 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 17065
    vision/eye phenotype 3188
      abnormal eye morphology 3029
        abnormal orbit morphology 26
          abnormal orbit shape + 2
          abnormal orbit size + 11
          abnormal orbitosphenoid bone morphology + 11
          asymmetrical orbits 0
          vertical orbital dystopia 0
Path 2
Term Annotations click to browse term
  mammalian phenotype 17065
    skeleton phenotype 3394
      abnormal skeleton morphology 3201
        abnormal axial skeleton morphology 1791
          abnormal craniofacial bone morphology 1046
            abnormal cranium morphology 1030
              abnormal orbit morphology 26
                abnormal orbit shape + 2
                abnormal orbit size + 11
                abnormal orbitosphenoid bone morphology + 11
                asymmetrical orbits 0
                vertical orbital dystopia 0
paths to the root