Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye morphology (HP:0012372)help
Parent Node:
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Abnormality of the orbital region (HP:0000315)help
Parent Node:
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obsolete Abnormal globe morphology (HP:0012374)help
..Starting node
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Abnormality of globe location (HP:0100886)help
Term ID: 100886
Name: Abnormality of globe location
Synonym: Abnormality of eyeball location; Abnormality of eyeball position; Abnormality of globe position
Definition: An abnormality in the placement of the ocular globe (eyeball).
Comments:
Reference: HP:0100886
Genes and Diseases:
 
       Child Nodes:
........expandHypertelorism (HP:0000316) help
........expandDeeply set eye (HP:0000490) help
........expandProptosis (HP:0000520) help
................... HP:0000586 Shallow orbits
........expandHypotelorism (HP:0000601) help
........expandCyclopia (HP:0009914) help
........expandVertical orbital dystopia (HP:0030867) help

 Sister Nodes: 
..expandAbnormal anterior eye segment morphology (HP:0004328) help
..expandAbnormal posterior eye segment morphology (HP:0004329) help
..expandAbnormal sclera morphology (HP:0000591) help
..expandAbnormal uvea morphology (HP:0000553) help
..expandAbnormality of globe size (HP:0100887) help
..expandAbnormality of the vasculature of the eye (HP:0008047) help
..expandAplasia/Hypoplasia affecting the eye (HP:0008056) help
..expandPhthisis bulbi (HP:0000667) help
..expandSpontaneous rupture of the globe (HP:0010727) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100886HP:0100886Abnormality of globe location0 CL E G H
HP:0100886HP:0100886Abnormality of globe location1 CL E G H
HP:0100886HP:0100886Abnormality of globe location2 CL E G H


Genes (734) :A2ML1 ABCA12 ABCC9 ABCD4 ACOX1 ACTA1 ACTA2 ACTB ACTG1 ACY1 ADAMTS10 ADAMTS3 ADGRG6 ADK AFF4 AGA AGL AHDC1 AKT1 AKT3 ALDH18A1 ALDH6A1 ALG1 ALG13 ALG8 ALG9 ALMS1 ALPL ALX1 ALX3 ALX4 AMER1 ANK1 ANKH ANKRD11 ANOS1 ANTXR1 AP1S2 AP3D1 AP4S1 APC APC2 ARCN1 ARID1B ARNT2 ARVCF ASPM ASXL1 ASXL2 ASXL3 ATAD3A ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATRX ATXN3 AUTS2 AVP B3GALT6 B3GAT3 B3GLCT B4GALT7 B9D1 B9D2 BANF1 BCL11B BCR BGN BLNK BMP2 BMPER BPTF BRAF BRCA1 BRCA2 BRIP1 BRPF1 BUB1B C12ORF57 CACNA1G CAMK2A CAMTA1 CANT1 CASK CBL CC2D2A CCBE1 CCDC22 CCDC47 CCND2 CCNK CD79A CD79B CDC42 CDC45 CDCA7 CDH1 CDH11 CDK10 CDK13 CDK5RAP2 CDKL5 CDKN1C CDON CENPF CEP120 CEP290 CEP55 CEP57 CHD3 CHD4 CHD7 CHN1 CHRNA1 CHRNA7 CHRND CHRNG CHST14 CHST3 CIT CITED2 CKAP2L CLP1 CNTN1 COG1 COG4 COL11A1 COL11A2 COL1A1 COL1A2 COL25A1 COL27A1 COL2A1 COL3A1 COL5A1 COLEC10 COLEC11 COMT COX1 COX2 COX3 COX7B CPLANE1 CPLX1 CREBBP CRIPT CRKL CRPPA CRTAP CSNK2A1 CSPP1 CTBP1 CTLA4 CTNND1 CTNND2 CTSK CTU2 DCHS1 DCPS DDR2 DDX59 DEAF1 DHCR7 DIS3L2 DISP1 DLL1 DLX4 DNAJC21 DNM1L DNMT3B DOCK6 DOK7 DPF2 DPH1 DPM1 DPM2 DPYD DSE DUSP6 DVL1 DVL3 DYRK1A EBF3 EED EEF1A2 EFEMP2 EFNB1 EHMT1 EIF2AK3 ELMO2 ELN EMC1 EP300 EPG5 ERCC1 ERCC2 ERCC4 ERCC6 ERF ERMARD ESCO2 EVC EVC2 EXOSC2 EXOSC9 EXT2 EXTL3 EZH2 FAM111A FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSB FAT4 FBLN5 FBN1 FBXO11 FBXO31 FGD1 FGF10 FGF17 FGF20 FGF3 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIBP FIG4 FLCN FLI1 FLII FLNA FLNB FMR1 FOXC1 FOXE3 FOXH1 FOXP1 FRAS1 FREM1 FREM2 FUCA1 FZD2 GABRD GAS1 GATA2 GATA4 GATA5 GATA6 GATAD2B GBA GDF1 GJA1 GJA5 GJA8 GK GLB1 GLE1 GLI2 GLI3 GNE GNRH1 GNRHR GORAB GP1BB GPC3 GPC4 GPKOW GPT2 GREB1L GRIA3 GRIP1 GSC GZF1 H19 H19-ICR HACE1 HBA1 HBA2 HDAC4 HDAC8 HECW2 HELLS HERC1 HHAT HIRA HLA-DPA1 HLA-DPB1 HMGA2 HNRNPH2 HNRNPU HRAS HS6ST1 HSD17B4 HSPG2 HUWE1 HYLS1 HYMAI IFT122 IFT43 IFT52 IGF1R IGF2 IGHM IGLL1 IL11RA IL1RAPL1 IMPAD1 INPPL1 INSR INTU IQSEC2 IRX5 ITCH ITGA3 ITGA8 JAG1 JMJD1C KANSL1 KAT6B KBTBD13 KCNAB2 KCNH1 KCNJ2 KCNJ6 KCNQ1 KCNQ1OT1 KCNQ2 KCNQ3 KCTD1 KDM5C KIAA0556 KIAA0586 KIAA0753 KIAA1109 KIDINS220 KIF1BP KIF7 KISS1 KISS1R KLF13 KLHL41 KLHL7 KMT2A KNL1 KRAS KREMEN1 LAGE3 LARP7 LAS1L LBR LEMD3 LETM1 LIG4 LMBR1 LMNA LOX LRP2 LRP4 LRP5 LRPPRC LRRC8A LTBP4 LZTR1 MAD2L2 MAF MAFB MAN1B1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPRE2 MARS2 MASP1 MAT2A MCTP2 MED12 MED13L MED25 MEF2C MEGF8 MEIS2 MFAP5 MID1 MITF MKS1 MLXIPL MMP2 MOCS1 MOCS2 MSTO1 MSX2 MTOR MUSK MYD88 MYH11 MYH3 MYLK MYOD1 MYPN NAA10 NALCN NBAS ND1 ND4 ND5 ND6 NDE1 NDP NEB NELFA NF1 NFIX NGF NGLY1 NIN NIPBL NKX2-5 NKX2-6 NKX3-2 NLRC4 NLRP3 NODAL NOTCH2 NOTCH3 NRAS NSD1 NSD2 NSMF NSUN2 NTRK1 NUP107 NXN OCRL OFD1 OGT OPHN1 ORAI1 OSGEP OTX2 P3H1 P4HB PACS1 PACS2 PAFAH1B1 PAH PAK1 PALB2 PAX3 PCLO PDE4D PDE6D PDGFRB PDHX PEPD PEX1 PEX2 PEX3 PEX5 PEX6 PGAP3 PHACTR1 PHF6 PHGDH PHIP PIEZO2 PIGA PIGL PIGN PIGO PIGV PIGY PIK3CA PIK3R1 PIK3R2 PITX2 PLAGL1 PLEC PLK4 PLOD3 POC1A POLD1 POLR1A POLR1C POLR1D POLR3A POR POU1F1 PPP1CB PPP1R15B PPP2R1A PPP2R5D PPP3CA PRDM16 PRKAR1A PRKDC PRKG1 PRMT7 PROK2 PROKR2 PRRT2 PRRX1 PRTN3 PRUNE1 PSAT1 PSMD12 PTCH1 PTCH2 PTDSS1 PTEN PTH1R PTPN11 PTPN22 PTRH2 PUF60 PYCR1 QARS QRICH1 RAB3GAP1 RAB3GAP2 RAD51 RAD51C RAF1 RAI1 RAPSN RARS2 RASA2 RB1 RBM10 RECQL4 RERE RET RFWD3 RIPK4 RIT1 RLIM RMRP RNU4ATAC ROR2 RPGRIP1 RPGRIP1L RPL35A RPL5 RPS19 RPS6KA3 RPS7 RRAS RREB1 RSPRY1 RUNX2 RUSC2 RYR1 SALL4 SCN2A SCN8A SEC23A SEC24C SEC24D SEMA3E SEMA5A SEPTIN9 SERPINH1 SET SETBP1 SETD2 SH2B1 SH3BP2 SH3PXD2B SHANK3 SHH SHOC2 SHPK SHROOM4 SIM1 SIN3A SIX2 SIX3 SKI SKIV2L SLC12A6 SLC16A2 SLC25A24 SLC26A2 SLC29A3 SLC2A10 SLC35A1 SLC39A13 SLC39A14 SLC45A1 SLC9A6 SLX4 SMAD3 SMAD4 SMC1A SMCHD1 SMG9 SMO SMS SNAP29 SON SOS1 SOS2 SOST SOX9 SPART SPECC1L SPINT2 SPRED1 SPRY4 SRC SRCAP SRD5A3 SSR4 STAG1 STAMBP STAT3 STIM1 STRADA SUFU SUZ12 TAC3 TACR3 TAF1 TAPT1 TAZ TBC1D20 TBC1D24 TBCD TBCE TBCK TBL1XR1 TBR1 TBX1 TBX15 TBX2 TBX4 TCF12 TCF3 TCF4 TCOF1 TCTN2 TCTN3 TDGF1 TFAP2A TFAP2B TGDS TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 THOC6 THRA THRB TMCO1 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TMEM94 TNFRSF11A TP53RK TPM2 TPM3 TPRKB TRAPPC9 TRIM37 TRIP12 TRIP4 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TSHR TTC37 TTI2 TUBB TWIST1 TWIST2 TXNL4A UBE2A UBE2T UBE3A UBE3B UFD1 UMPS USB1 USP9X VAC14 VSX1 WAC WASHC5 WDPCP WDR11 WDR19 WDR35 WDR4 WDR73 WHCR WNT5A XRCC2 XRCC4 XYLT1 XYLT2 YWHAE ZBTB18 ZBTB20 ZBTB24 ZEB2 ZFPM2 ZIC1 ZIC2 ZIC3 ZMPSTE24 ZMYND11 ZSWIM6

Diseases (815) :648 242500 965 614857 2971 264470 171433 171439 91387 79107 243310 2995 614583 137754 609924 2136 618154 616503 614300 616368 93 232400 615829 744 83473 90348 219150 614105 608540 324422 300884 608104 608776 263210 64 241510 306542 613456 391474 136760 228390 613451 609597 300373 251066 1522 123000 2332 148050 432 2067 230740 304340 617050 614067 261584 3258 821 617164 251056 135900 615926 567 608716 97297 605039 617190 615485 496790 617183 357074 2834 278250 617403 3473 617402 847 301040 309580 276238 276244 276241 109150 615834 125700 93359 615349 271640 245600 709 261540 130070 564 614008 617237 618092 261330 300989 33110 261295 608022 529962 617755 500 115150 1340 613707 163950 613706 84 617883 617333 257300 1777 218340 618087 617798 314647 614756 1425 251450 163937 300422 300749 613563 216360 235510 300963 7 618268 618147 616737 617063 2268 616910 1997 119580 1299 211380 617694 617360 604804 300672 130650 280200 614226 243605 616300 614114 618205 617159 138 214800 233 253290 612001 2990 265000 601776 263463 143095 617090 3303 272440 411493 615803 612540 611209 85172 618150 2021 560 440354 228520 154780 3450 1899 1310 615155 485 90653 94068 93346 156550 286 293843 248340 265050 550 300887 2754 277170 194190 617976 180849 615789 614643 610682 617062 397715 900 617681 281 763 618142 601390 616459 271665 2919 174300 819 818 270400 2849 616788 617052 614388 242860 614219 994 208150 618027 616901 608799 615042 293948 615539 3107 180700 616331 616894 614104 617330 3447 617561 616393 614437 1520 304110 96147 610253 226980 606893 194050 616875 1493 242840 610758 610756 278760 610965 214150 2343 617180 207 600775 75857 3103 268300 193530 617763 618065 616682 617425 277590 93325 1832 259775 614083 613658 616006 615546 284979 2462 614185 616914 154700 618089 615979 915 305400 149730 1848 90024 93258 2645 3366 2117 615465 166250 101600 190440 794 87 93259 93260 1555 83 313855 168624 101200 207410 614592 1540 123500 123790 101400 93262 53271 35099 1860 93274 612247 602849 606812 617107 3472 216340 610883 370348 2308 90652 90650 1826 305620 2484 300048 309350 311300 304120 300244 503 108720 150250 272460 261483 782 602482 613670 2052 219000 2717 248450 614485 230000 93328 1606 614038 251071 187500 217095 615074 608013 218400 2710 612474 307030 230500 1486 615849 610829 380 672 36 175700 3166 269921 231070 373 312870 2570 477673 300699 602471 617662 464282 98791 1001 3459 300882 617268 616911 617011 1422 94063 300986 238769 137550 218040 261515 800 85328 2189 1515 218330 617866 270450 614188 300143 614078 258480 508 246200 617925 611174 613385 614748 191830 118450 610443 85201 611816 170390 614098 306 181270 85279 300534 616784 617127 617822 521390 617296 66629 166024 200990 607131 319182 605130 604321 3339 609942 617392 2065 615071 309585 215140 169400 280 235 2378 90153 1662 740 275210 248370 222448 2143 614305 212780 178377 220111 613506 613177 616564 601088 2774 166300 614202 638 157800 617137 616734 616430 257920 1596 305450 616789 616449 228384 613443 614976 261190 600987 300000 249000 259600 252150 252160 502423 604757 616638 33226 2053 193700 276432 300855 614800 605013 649 305390 162200 601321 561 64752 615273 614851 122470 613330 1451 607115 955 2789 130720 613224 117550 611091 1507 534 2750 311200 300209 300997 137831 300486 3204 617729 990 610915 2050 615009 618067 217385 2209 618158 610832 1529 122880 193500 608027 950 616592 601812 245349 742 170100 214100 614866 614882 214110 614862 614863 615716 618298 127 301900 2671 256520 617991 1154 248700 108145 300868 3474 280000 2059 280633 614080 614749 239300 616809 60040 602501 3163 269880 612138 616171 614813 615381 1200 861 447896 264090 201750 613038 2701 617506 616817 616362 616355 617711 101800 615966 617157 244200 617481 616038 617516 377 109400 610828 2658 151050 50945 156400 151100 616263 508488 612940 614438 615760 617982 1387 600118 611554 611553 1713 182290 611523 1587 311900 1225 218600 1401 263650 615355 300978 607095 2636 210710 268310 612528 612561 105650 276630 303600 192 612563 616723 1452 119600 617773 324581 959 607323 50814 607812 616294 162100 618106 798 616078 269150 261197 184 118400 137834 249420 48652 606232 142945 147250 607721 440713 300434 171829 94065 613406 488437 157170 182212 614602 218000 59 2095 612289 628 56304 1782 168569 602782 3342 208050 603585 157965 144755 617532 85278 284984 613795 139210 603457 616920 1553 309583 66631 609528 500150 617140 610733 616559 122860 269500 140 114290 101000 275900 1519 145420 145410 270420 611431 616937 2044 136140 612379 370927 300934 617635 614261 2314 147060 185070 611087 617757 300966 616897 302060 615663 79500 617193 93324 241410 244460 2323 616900 602342 1617 1727 188400 93333 618223 261279 2896 610954 2753 258860 113620 46627 169100 1388 1328 131300 614816 615582 60030 609192 610168 142946 613680 614450 274300 1394 213980 608091 2752 614424 602152 618316 612301 617730 617731 352530 613192 253250 617752 616866 424 99819 222470 615541 156610 180750 617746 1231 200110 209885 608572 300860 105830 244450 30 604173 300968 614195 616708 220210 217085 613610 251300 616541 615777 85194 36367 612337 259050 614069 235730 616602 609637 306955 90154 608612 616083 603671 1827 277600 608328 96191 435628 617306 602535 112240 612394 613848
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.