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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 ciliary body morphology
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Accession:MP:0005099 term browser browse the term
Definition:any structural anomaly of the thickened portion of the vascular tunic, which lies between the choroid and the iris, and is made up of the ciliary muscle and the ciliary processes; the processes radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye
Synonyms:exact_synonym: ciliary body abnormalities


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abnormal ciliary body morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif 10 IAGP MGI PMID:30060141 NCBI chr17:33,742,620...33,772,756
Ensembl chr17:33,743,178...33,772,756 		JBrowse link
G Atf4 activating transcription factor 4 IAGP MGI PMID:10885750 NCBI chr15:80,139,385...80,141,746
Ensembl chr15:80,139,385...80,141,742 		JBrowse link
G Col18a1 collagen, type XVIII, alpha 1 IAGP MGI PMID:12766032 NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382 		JBrowse link
G Egfr epidermal growth factor receptor IAGP MGI PMID:9030684 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158 		JBrowse link
G Foxc1 forkhead box C1 IAGP MGI PMID:10767326 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Foxc2 forkhead box C2 IAGP MGI PMID:10767326 NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634 		JBrowse link
G Foxe3 forkhead box E3 IAGP MGI PMID:17064680 NCBI chr 4:114,781,640...114,783,264
Ensembl chr 4:114,782,344...114,783,210 		JBrowse link
G Gas1 growth arrest specific 1 IAGP MGI PMID:11456441 NCBI chr13:60,322,219...60,325,179
Ensembl chr13:60,322,219...60,325,179 		JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:27483349 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta IAGP MGI PMID:10660670 NCBI chr 2:33,450,977...33,531,219
Ensembl chr 2:33,450,977...33,530,620 		JBrowse link
G Loxl1 lysyl oxidase-like 1 IAGP MGI PMID:24425853 NCBI chr 9:58,195,006...58,220,495
Ensembl chr 9:58,195,021...58,220,469 		JBrowse link
G Mitf melanogenesis associated transcription factor IAGP MGI PMID:4963367 NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
G Pax6 paired box 6 IAGP MGI PMID:19563798 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP MGI PMID:9030684 NCBI chr17:80,701,181...80,787,882
Ensembl chr17:80,701,180...80,787,882 		JBrowse link
G Spns2 SPNS lysolipid transporter 2, sphingosine-1-phosphate IAGP MGI PMID:24652767 NCBI chr11:72,342,464...72,380,797
Ensembl chr11:72,342,464...72,380,730 		JBrowse link
G Tfap2b transcription factor AP-2 beta IAGP MGI PMID:27483349 NCBI chr 1:19,279,132...19,309,071
Ensembl chr 1:19,279,138...19,308,800 		JBrowse link
G Tsc1 TSC complex subunit 1 IAGP MGI PMID:28250050 NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179 		JBrowse link
abnormal ciliary body pigmentation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr143 G protein-coupled receptor 143 IAGP MGI PMID:11092754 NCBI chr  X:151,564,917...151,591,647
Ensembl chr  X:151,564,917...151,591,642 		JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 IAGP MGI PMID:102659 NCBI chr19:42,743,629...42,770,013
Ensembl chr19:42,743,544...42,768,417 		JBrowse link
G Lyst lysosomal trafficking regulator IAGP MGI PMID:13943454 NCBI chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388 		JBrowse link
G Slc24a5 solute carrier family 24, member 5 IAGP MGI PMID:18424845 NCBI chr 2:124,910,076...124,930,316
Ensembl chr 2:124,910,044...124,930,597 		JBrowse link
abnormal ciliary epithelium morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cp ceruloplasmin IAGP MGI PMID:18326691 NCBI chr 3:20,011,097...20,063,914
Ensembl chr 3:20,011,218...20,063,309 		JBrowse link
G Heph hephaestin IAGP MGI PMID:18326691 NCBI chr  X:95,499,042...95,618,091
Ensembl chr  X:95,498,965...95,618,091 		JBrowse link
G Nectin1 nectin cell adhesion molecule 1 IAGP MGI PMID:15728677 NCBI chr 9:43,655,251...43,718,758
Ensembl chr 9:43,655,281...43,743,955 		JBrowse link
G Nectin3 nectin cell adhesion molecule 3 IAGP MGI PMID:15728677 NCBI chr16:46,208,028...46,318,898
Ensembl chr16:46,208,069...46,318,888 		JBrowse link
G Tsc1 TSC complex subunit 1 IAGP MGI PMID:28250050 NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179 		JBrowse link
abnormal ciliary muscle morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxf2 forkhead box F2 IAGP MGI PMID:22022403 NCBI chr13:31,809,686...31,815,390
Ensembl chr13:31,809,799...31,815,386 		JBrowse link
abnormal ciliary process morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif 10 IAGP MGI PMID:30060141 NCBI chr17:33,742,620...33,772,756
Ensembl chr17:33,743,178...33,772,756 		JBrowse link
G Cenpj centromere protein J IAGP MGI PMID:23166506 NCBI chr14:56,764,218...56,812,950
Ensembl chr14:56,764,218...56,812,882 		JBrowse link
G Col2a1 collagen, type II, alpha 1 IAGP MGI PMID:16546167 NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
G Foxc1 forkhead box C1 IAGP MGI PMID:10767326 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Foxf2 forkhead box F2 IAGP MGI PMID:22022403 NCBI chr13:31,809,686...31,815,390
Ensembl chr13:31,809,799...31,815,386 		JBrowse link
G Mitf melanogenesis associated transcription factor IAGP MGI PMID:8947051 NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
absent ciliary body term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxf2 forkhead box F2 IAGP MGI PMID:22022403 NCBI chr13:31,809,686...31,815,390
Ensembl chr13:31,809,799...31,815,386 		JBrowse link
G Frem2 Fras1 related extracellular matrix protein 2 IAGP MGI PMID:30802441 NCBI chr 3:53,421,359...53,566,014
Ensembl chr 3:53,421,359...53,564,776 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta IAGP MGI PMID:20568247 NCBI chr 2:33,450,977...33,531,219
Ensembl chr 2:33,450,977...33,530,620 		JBrowse link
G Mab21l1 mab-21-like 1 IAGP MGI PMID:12642482 NCBI chr 3:55,689,931...55,692,708
Ensembl chr 3:55,689,931...55,692,422 		JBrowse link
G Pax6 paired box 6 IAGP MGI PMID:19563798 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 IAGP MGI PMID:20568247 NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240 		JBrowse link
absent ciliary process term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin1 nectin cell adhesion molecule 1 IAGP MGI PMID:15728677 NCBI chr 9:43,655,251...43,718,758
Ensembl chr 9:43,655,281...43,743,955 		JBrowse link
G Nectin3 nectin cell adhesion molecule 3 IAGP MGI PMID:15728677 NCBI chr16:46,208,028...46,318,898
Ensembl chr16:46,208,069...46,318,888 		JBrowse link
G Otx1 orthodenticle homeobox 1 IAGP MGI PMID:10068635 NCBI chr11:21,944,764...21,954,044
Ensembl chr11:21,944,764...21,952,897 		JBrowse link
ciliary body coloboma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext1 exostosin glycosyltransferase 1 IAGP MGI PMID:19509472 NCBI chr15:52,931,657...53,209,579
Ensembl chr15:52,927,434...53,209,555 		JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:19509472 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
ciliary body hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 IAGP MGI PMID:10767326 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Foxf2 forkhead box F2 IAGP MGI PMID:22022403 NCBI chr13:31,809,686...31,815,390
Ensembl chr13:31,809,799...31,815,386 		JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:20568247 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
G Lgr4 leucine-rich repeat-containing G protein-coupled receptor 4 IAGP MGI PMID:18424556 NCBI chr 2:109,747,919...109,844,602
Ensembl chr 2:109,747,992...109,844,602 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta IAGP MGI PMID:20568247 NCBI chr 2:33,450,977...33,531,219
Ensembl chr 2:33,450,977...33,530,620 		JBrowse link
G Mitf melanogenesis associated transcription factor IAGP MGI PMID:8402531 NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
G Pxdn peroxidasin IAGP MGI PMID:24895407 NCBI chr12:29,986,641...30,067,657
Ensembl chr12:29,987,607...30,067,657 		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 uvea morphology 275
          abnormal anterior uvea morphology 226
            abnormal ciliary body morphology 35
              abnormal ciliary body pigmentation 4
              abnormal ciliary epithelium morphology 5
              abnormal ciliary muscle morphology 1
              abnormal ciliary process morphology + 9
              absent ciliary body 6
              ciliary body coloboma 2
              ciliary body hypoplasia 7
paths to the root