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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 cranial foramen morphology
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Accession:MP:0030310 term browser browse the term
Definition:any structural anomaly of any of the openings or orifices (foramina) in the skull through which cranial nerves, arteries, veins and other structures pass into and out of the cranium
Synonyms:exact_synonym: abnormal cranial foramina morphology;   abnormal skull foramen morphology;   abnormal skull foramina morphology
 broad_synonym: abnormal foramina of the skull


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abnormal cranial foramen morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank progressive ankylosis IAGP MGI PMID:19257826 NCBI chr15:27,466,763...27,594,995
Ensembl chr15:27,466,763...27,594,995 		JBrowse link
abnormal foramen magnum morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank progressive ankylosis IAGP MGI PMID:19257826 NCBI chr15:27,466,763...27,594,995
Ensembl chr15:27,466,763...27,594,995 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 IAGP MGI PMID:10200283 PMID:19073250 PMID:19086028 PMID:37345656 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 Foxc1 forkhead box C1 IAGP MGI PMID:5500588 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Idua iduronidase, alpha-L IAGP MGI PMID:15111796 NCBI chr 5:108,808,197...108,833,312
Ensembl chr 5:108,808,197...108,832,423 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 IAGP MGI PMID:11790802 NCBI chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560 		JBrowse link
G Tbx15 T-box 15 IAGP MGI PMID:15652702 NCBI chr 3:99,147,671...99,261,576
Ensembl chr 3:99,147,697...99,261,575 		JBrowse link
abnormal hypoglossal canal morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn4 actinin alpha 4 IEA MGI NCBI chr 7:28,592,673...28,661,799
Ensembl chr 7:28,592,673...28,661,765 		JBrowse link
G Dbn1 drebrin 1 IEA MGI NCBI chr13:55,621,241...55,635,874
Ensembl chr13:55,621,242...55,635,924 		JBrowse link
G H13 histocompatibility 13 IEA MGI NCBI chr 2:152,511,292...152,550,590
Ensembl chr 2:152,511,381...152,550,590 		JBrowse link
abnormal internal auditory canal morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou3f4 POU domain, class 3, transcription factor 4 IAGP MGI PMID:10407036 NCBI chr  X:109,857,985...109,862,714
Ensembl chr  X:109,857,886...109,860,813 		JBrowse link
abnormal mental foramen morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ostm1 osteopetrosis associated transmembrane protein 1 IEA MGI NCBI chr10:42,554,912...42,578,458
Ensembl chr10:42,459,818...42,578,455 		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 oval window morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 IAGP MGI PMID:24840056 NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		JBrowse link
G Pou3f4 POU domain, class 3, transcription factor 4 IAGP MGI PMID:15574296 NCBI chr  X:109,857,985...109,862,714
Ensembl chr  X:109,857,886...109,860,813 		JBrowse link
G Prrx1 paired related homeobox 1 IAGP MGI PMID:9729491 NCBI chr 1:163,072,688...163,142,714
Ensembl chr 1:163,072,688...163,141,279 		JBrowse link
G Prrx2 paired related homeobox 2 IAGP MGI PMID:9729491 NCBI chr 2:30,735,076...30,771,263
Ensembl chr 2:30,724,984...30,771,263 		JBrowse link
G Rpl38 ribosomal protein L38 IAGP MGI PMID:21062742 NCBI chr11:114,558,644...114,563,159
Ensembl chr11:114,559,350...114,563,157 		JBrowse link
abnormal round window morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 IAGP MGI PMID:15353999 PMID:15916118 NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP MGI PMID:27959908 NCBI chr10:24,513,812...24,588,057
Ensembl chr10:24,513,812...24,588,057 		JBrowse link
G Rpl38 ribosomal protein L38 IAGP MGI PMID:21062742 NCBI chr11:114,558,644...114,563,159
Ensembl chr11:114,559,350...114,563,157 		JBrowse link
absent hypoglossal canal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4933434E20Rik RIKEN cDNA 4933434E20 gene IEA MGI NCBI chr 3:89,958,941...89,969,754
Ensembl chr 3:89,958,943...89,970,648
Ensembl chr 3:89,958,943...89,970,648 		JBrowse link
G Actn4 actinin alpha 4 IEA MGI NCBI chr 7:28,592,673...28,661,799
Ensembl chr 7:28,592,673...28,661,765 		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 D930028M14Rik RIKEN cDNA D930028M14 gene IEA MGI NCBI chr 7:24,851,882...24,856,055
Ensembl chr 7:24,851,846...24,856,054 		JBrowse link
G Dbn1 drebrin 1 IEA MGI NCBI chr13:55,621,241...55,635,874
Ensembl chr13:55,621,242...55,635,924 		JBrowse link
G Gas1 growth arrest specific 1 IAGP MGI PMID:17525797 NCBI chr13:60,322,219...60,325,179
Ensembl chr13:60,322,219...60,325,179 		JBrowse link
G H13 histocompatibility 13 IEA MGI NCBI chr 2:152,511,292...152,550,590
Ensembl chr 2:152,511,381...152,550,590 		JBrowse link
G Nsun2 NOL1/NOP2/Sun domain family member 2 IEA MGI NCBI chr13:69,760,135...69,783,899
Ensembl chr13:69,681,865...69,783,899 		JBrowse link
G Prrc2b proline-rich coiled-coil 2B IEA MGI NCBI chr 2:32,041,002...32,124,549
Ensembl chr 2:32,041,094...32,124,549 		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 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
absent mandibular canal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fign fidgetin IEA MGI NCBI chr 2:63,801,852...63,928,382
Ensembl chr 2:63,801,851...63,928,382 		JBrowse link
absent mandibular foramen term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fign fidgetin IEA MGI NCBI chr 2:63,801,852...63,928,382
Ensembl chr 2:63,801,851...63,928,382 		JBrowse link
absent mental foramen term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fign fidgetin IEA MGI NCBI chr 2:63,801,852...63,928,382
Ensembl chr 2:63,801,851...63,928,382 		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 oval window term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa2 homeobox A2 IAGP MGI PMID:11578867 NCBI chr 6:52,139,389...52,141,808
Ensembl chr 6:52,139,397...52,141,811 		JBrowse link
G Pbx1 pre B cell leukemia homeobox 1 IAGP MGI PMID:11566859 NCBI chr 1:167,946,933...168,259,898
Ensembl chr 1:167,946,933...168,259,839 		JBrowse link
absent round window term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 fibroblast growth factor receptor 1 IAGP MGI PMID:15630379 NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
G Pax8 paired box 8 IAGP MGI PMID:14981357 NCBI chr 2:24,310,563...24,365,611
Ensembl chr 2:24,310,572...24,365,611 		JBrowse link
decreased oval window size term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 IAGP MGI PMID:21875659 NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		JBrowse link
decreased round window size term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 IAGP MGI PMID:21875659 NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 IAGP MGI PMID:15630379 NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
G Pax8 paired box 8 IAGP MGI PMID:14981357 NCBI chr 2:24,310,563...24,365,611
Ensembl chr 2:24,310,572...24,365,611 		JBrowse link
foramen magnum stenosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank progressive ankylosis IAGP MGI PMID:17186460 NCBI chr15:27,466,763...27,594,995
Ensembl chr15:27,466,763...27,594,995 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 IAGP MGI PMID:23200862 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Pth1r parathyroid hormone 1 receptor IAGP MGI PMID:8662561 NCBI chr 9:110,551,132...110,576,213
Ensembl chr 9:110,551,153...110,576,213 		JBrowse link
large cranial foramen ovale term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mn1 meningioma 1 IAGP MGI PMID:15870292 NCBI chr 5:111,565,145...111,604,890
Ensembl chr 5:111,565,228...111,604,899 		JBrowse link
large foramen rotundum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mn1 meningioma 1 IAGP MGI PMID:15870292 NCBI chr 5:111,565,145...111,604,890
Ensembl chr 5:111,565,228...111,604,899 		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
small hypoglossal canal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn4 actinin alpha 4 IEA MGI NCBI chr 7:28,592,673...28,661,799
Ensembl chr 7:28,592,673...28,661,765 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16725
    craniofacial phenotype 1621
      abnormal craniofacial morphology 1621
        abnormal craniofacial bone morphology 1028
          abnormal cranium morphology 1012
            abnormal cranial foramen morphology 37
              abnormal carotid canal morphology 0
              abnormal cranial foramen ovale morphology + 1
              abnormal foramen magnum morphology + 8
              abnormal foramen rotundum morphology + 1
              abnormal hypoglossal canal morphology + 12
              abnormal incisive canal morphology 0
              abnormal incisive foramen morphology 0
              abnormal infraorbital foramen morphology 0
              abnormal internal auditory canal morphology 1
              abnormal jugular foramen morphology 0
              abnormal mandibular canal morphology + 1
              abnormal mandibular foramen morphology + 1
              abnormal mental foramen morphology + 2
              abnormal optic canal morphology + 5
              abnormal oval window morphology + 7
              abnormal round window morphology + 5
Path 2
Term Annotations click to browse term
  mammalian phenotype 16725
    skeleton phenotype 3344
      abnormal skeleton morphology 3156
        abnormal axial skeleton morphology 1771
          abnormal craniofacial bone morphology 1028
            abnormal cranium morphology 1012
              abnormal cranial foramen morphology 37
                abnormal carotid canal morphology 0
                abnormal cranial foramen ovale morphology + 1
                abnormal foramen magnum morphology + 8
                abnormal foramen rotundum morphology + 1
                abnormal hypoglossal canal morphology + 12
                abnormal incisive canal morphology 0
                abnormal incisive foramen morphology 0
                abnormal infraorbital foramen morphology 0
                abnormal internal auditory canal morphology 1
                abnormal jugular foramen morphology 0
                abnormal mandibular canal morphology + 1
                abnormal mandibular foramen morphology + 1
                abnormal mental foramen morphology + 2
                abnormal optic canal morphology + 5
                abnormal oval window morphology + 7
                abnormal round window morphology + 5
paths to the root