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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:ocular hypertelorism
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Accession:MP:0001300 term browser browse the term
Definition:increased interpupillary distance, i.e. increased distance between the center of the pupils of the two eyes
Synonyms:exact_synonym: Hypertelorism;   excessive orbital separation;   increased distance between the eye sockets;   increased distance between the eyes;   increased interorbital distance;   wide set eyes;   widely spaced eyes;   widened interpupillary distance
 xref: HP:0000316



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ocular hypertelorism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G a nonagouti IAGP MGI PMID:14737183 NCBI chr 2:154,792,519...154,892,932
Ensembl chr 2:154,633,322...154,892,932
JBrowse link
G Alx4 aristaless-like homeobox 4 IAGP MGI PMID:25673119 NCBI chr 2:93,472,779...93,511,686
Ensembl chr 2:93,472,729...93,511,684
JBrowse link
G Arsb arylsulfatase B IEA MGI NCBI chr13:93,908,187...94,079,524
Ensembl chr13:93,908,138...94,079,524
JBrowse link
G B3glct beta-3-glucosyltransferase IAGP MGI PMID:31600785 NCBI chr 5:149,601,565...149,686,064
Ensembl chr 5:149,601,695...149,686,064
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 IAGP MGI PMID:20736290 NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659
JBrowse link
G Crkl v-crk avian sarcoma virus CT10 oncogene homolog-like IAGP MGI PMID:11242111 NCBI chr16:17,269,849...17,305,304
Ensembl chr16:17,269,851...17,305,298
JBrowse link
G Ctnnb1 catenin beta 1 IAGP MGI PMID:10932191 NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573
JBrowse link
G Dnmt3b DNA methyltransferase 3B IAGP MGI PMID:16501171 NCBI chr 2:153,491,332...153,529,650
Ensembl chr 2:153,491,370...153,529,650
JBrowse link
G Fgf9 fibroblast growth factor 9 IAGP MGI PMID:12140681 NCBI chr14:58,308,543...58,350,311
Ensembl chr14:58,308,004...58,350,177
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 IAGP MGI PMID:10942429 NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 IAGP MGI PMID:14499350 PMID:15316116 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 Fgfr3 fibroblast growth factor receptor 3 IAGP MGI PMID:19086028 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412
JBrowse link
G Foxg1 forkhead box G1 IAGP MGI PMID:20736290 NCBI chr12:49,429,666...49,433,650
Ensembl chr12:49,429,443...49,433,644
JBrowse link
G Gnas GNAS complex locus IAGP MGI PMID:26859889 NCBI chr 2:174,126,113...174,188,537
Ensembl chr 2:174,126,113...174,188,537
JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:19706403 PMID:20106874 PMID:26859889 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443
JBrowse link
G Hhat hedgehog acyltransferase IAGP MGI PMID:14975718 NCBI chr 1:192,195,133...192,453,546
Ensembl chr 1:192,179,019...192,453,531
JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 IAGP MGI PMID:37463454 NCBI chr  X:133,501,928...133,507,809
Ensembl chr  X:133,501,928...133,507,809
JBrowse link
G Idua iduronidase, alpha-L IAGP MGI PMID:9660052 NCBI chr 5:108,808,197...108,833,312
Ensembl chr 5:108,808,197...108,832,423
JBrowse link
G Kif3a kinesin family member 3A IAGP MGI PMID:20106874 NCBI chr11:53,456,531...53,495,075
Ensembl chr11:53,458,206...53,492,794
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog IAGP MGI PMID:25359213 NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
JBrowse link
G Lpar1 lysophosphatidic acid receptor 1 IAGP MGI PMID:11087877 PMID:14697676 NCBI chr 4:58,435,252...58,554,601
Ensembl chr 4:58,435,255...58,553,898
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
G Mks1 MKS transition zone complex subunit 1 IAGP MGI PMID:23454480 NCBI chr11:87,744,007...87,754,629
Ensembl chr11:87,744,041...87,754,629
JBrowse link
G Pax3 paired box 3 IAGP MGI PMID:23872235 NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) IEA MGI NCBI chr11:68,876,527...68,899,286
Ensembl chr11:68,876,523...68,899,286
JBrowse link
G Prickle1 prickle planar cell polarity protein 1 IAGP MGI PMID:25190059 NCBI chr15:93,396,992...93,494,147
Ensembl chr15:93,396,995...93,493,772
JBrowse link
G Ptch1 patched 1 IEA MGI NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 IAGP MGI PMID:21339643 PMID:25288766 NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
JBrowse link
G Raf1 v-raf-leukemia viral oncogene 1 IAGP MGI PMID:21339642 NCBI chr 6:115,595,530...115,653,596
Ensembl chr 6:115,595,028...115,653,596
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
G Rreb1 ras responsive element binding protein 1 IAGP MGI PMID:32938917 NCBI chr13:37,962,362...38,135,981
Ensembl chr13:37,962,376...38,135,981
JBrowse link
G Sh3pxd2b SH3 and PX domains 2B IAGP MGI PMID:20137777 NCBI chr11:32,297,777...32,378,189
Ensembl chr11:32,297,820...32,378,173
JBrowse link
G Shh sonic hedgehog IAGP MGI PMID:23872235 NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP MGI PMID:21041952 NCBI chr17:80,701,181...80,787,882
Ensembl chr17:80,701,180...80,787,882
JBrowse link
G Sp8 trans-acting transcription factor 8 IAGP MGI PMID:23872235 NCBI chr12:118,809,968...118,816,313
Ensembl chr12:118,810,064...118,816,311
JBrowse link
G Tbx15 T-box 15 IAGP MGI PMID:14737183 PMID:15652702 NCBI chr 3:99,147,671...99,261,576
Ensembl chr 3:99,147,697...99,261,575
JBrowse link
G Tet1 tet methylcytosine dioxygenase 1 IAGP MGI PMID:22246904 PMID:26989192 NCBI chr10:62,640,349...62,723,242
Ensembl chr10:62,640,349...62,744,775
JBrowse link
G Tfap2a transcription factor AP-2, alpha IAGP MGI PMID:14975718 NCBI chr13:40,867,278...40,891,715
Ensembl chr13:40,868,778...40,891,852
JBrowse link
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

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 17059
    vision/eye phenotype 3188
      abnormal eye morphology 3029
        abnormal eye distance/ position 120
          ocular hypertelorism 39
paths to the root