Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal eye physiology (HP:0012373)

Parent Node:
Abnormality of eye movement (HP:0000496)

..Starting node
..Abnormal involuntary eye movements (HP:0012547)

Term ID:

12547

Name:

Abnormal involuntary eye movements

Synonym:

Definition:

Anomalous movements of the eyes that occur without the subject wanting them to happen.

Comments:

Reference:

HP:0012547

Genes and Diseases:

Child Nodes:

........

Nystagmus (HP:0000639)

................... HP:0000640 Gaze-evoked nystagmus
................... HP:0000666 Horizontal nystagmus
................... HP:0001361 Nystagmus-induced head nodding
................... HP:0001583 Rotary nystagmus
................... HP:0006934 Congenital nystagmus
................... HP:0010542 Vestibular nystagmus
................... HP:0010544 Vertical nystagmus
................... HP:0012043 Pendular nystagmus
................... HP:0030691 Divergence nystagmus

........

Chaotic rapid conjugate ocular movements (HP:0007295)

........

Paroxysmal involuntary eye movements (HP:0007704)

........

Uncontrolled eye movements (HP:0007738)

........

Opsoclonus (HP:0010543)

Sister Nodes:

Abnormal conjugate eye movement (HP:0000549)

Abnormal ocular alignment (HP:0500073)

Abnormal saccadic eye movements (HP:0000570)

Abnormal visual fixation (HP:0025404)

Abnormality of ocular abduction (HP:0011347)

Abnormality of ocular smooth pursuit (HP:0000617)

Compensatory head posture (HP:0031705)

Impaired ocular adduction (HP:0000542)

Limited extraocular movements (HP:0007941)

Marcus Gunn jaw winking synkinesis (HP:0025186)

Oculomotor apraxia (HP:0000657)

Ophthalmoparesis (HP:0000597)

Visual gaze preference (HP:0025518)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	Source	Typical association	HGMD variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0012547	HP:0012547	Abnormal involuntary eye movements	0	GM2A CL E G H	2760	309246	ORPHA	1	12	4367	613109
HP:0012547	HP:0012547	Abnormal involuntary eye movements	0	HTT CL E G H	3064	248111	ORPHA	1	8	4851	613004
HP:0012547	HP:0012547	Abnormal involuntary eye movements	1	GM2A CL E G H	2760	309246	ORPHA	1	12	4367	613109
HP:0012547	HP:0012547	Abnormal involuntary eye movements	1	HTT CL E G H	3064	248111	ORPHA	1	8	4851	613004
HP:0012547	HP:0012547	Abnormal involuntary eye movements	2	GM2A CL E G H	2760	309246	ORPHA	1	12	4367	613109
HP:0012547	HP:0012547	Abnormal involuntary eye movements	2	HTT CL E G H	3064	248111	ORPHA	1	8	4851	613004
HP:0012547	HP:0012547	Abnormal involuntary eye movements	3	GM2A CL E G H	2760	309246	ORPHA	1	12	4367	613109
HP:0012547	HP:0012547	Abnormal involuntary eye movements	3	HTT CL E G H	3064	248111	ORPHA	1	8	4851	613004
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012547	HP:0012547	Abnormal involuntary eye movements	0	PAX6 CL E G H	5080	137902	ORPHA	0	571	8620	607108
HP:0012547	HP:0012547	Abnormal involuntary eye movements	1	PAX6 CL E G H	5080	137902	ORPHA	0	571	8620	607108
HP:0012547	HP:0012547	Abnormal involuntary eye movements	2	PAX6 CL E G H	5080	137902	ORPHA	0	571	8620	607108
HP:0012547	HP:0012547	Abnormal involuntary eye movements	3	PAX6 CL E G H	5080	137902	ORPHA	0	571	8620	607108

Genes (822) :A2ML1 AARS AARS2 ABCA4 ABCB7 ABHD12 ABHD5 ACO2 ACOX1 ADAMTSL4 ADAR ADD3 ADGRG1 ADGRV1 ADPRHL2 ADSL AFG3L2 AGBL5 AGK AGRN AGTPBP1 AHI1 AHR AIMP1 AIPL1 ALDH18A1 ALG13 ALG2 ALMS1 ALX4 ANK1 ANKRD11 ANO10 ANOS1 ANTXR1 AP3B1 AP3B2 AP3D1 AP4E1 APC APTX ARHGEF18 ARHGEF2 ARID1A ARID1B ARID2 ARL13B ARL2BP ARL3 ARL6 ARMC9 ARNT2 ARV1 ARX ASAH1 ASPA ATAD3A ATCAY ATF6 ATM ATN1 ATOH7 ATP13A2 ATP1A2 ATP1A3 ATP2B3 ATP5F1A ATP6 ATP6V1A ATP6V1E1 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8 ATXN8OS B3GLCT B4GALNT1 B9D1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCOR BCS1L BDNF BEAN1 BEST1 BLOC1S3 BLOC1S6 BMP4 BRAF BRAT1 BRCA1 BRCA2 BRIP1 BUB1B C12ORF65 C8ORF37 CA4 CABP4 CACNA1A CACNA1E CACNA1F CACNA1G CACNA2D4 CACNB4 CAPN1 CASK CAV1 CC2D2A CCDC141 CDH3 CDHR1 CEP104 CEP120 CEP164 CEP290 CEP41 CEP78 CERKL CFAP410 CHAT CHD7 CHMP1A CHN1 CISD2 CLCN7 CLDN16 CLDN19 CLIP2 CLN5 CLP1 CLRN1 CLTC CNGA1 CNGA3 CNGB1 CNGB3 CNKSR2 CNNM4 COG4 COL11A1 COL13A1 COL18A1 COL25A1 COL2A1 COQ2 COX10 COX15 CPLANE1 CPLX1 CRB1 CRX CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CTBP1 CTDP1 CTNNB1 CWF19L1 CYFIP2 CYP1B1 CYP7B1 DAB1 DARS DARS2 DCC DCX DGUOK DHCR24 DHCR7 DHDDS DHX38 DKK1 DLAT DNAJC12 DNM1 DNM1L DNMT1 DPAGT1 DPF2 DPM1 DPP6 DPYD DTNBP1 DUSP6 EBP ECHS1 EDNRB EEF1A2 EEF2 EFNB1 EGR2 EIF2S3 ELN ELOVL4 ELOVL5 EPG5 EPRS ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERMARD ESCO2 EXOSC2 EXOSC3 EXOSC9 EXT2 EYS FA2H FAM161A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FBXL4 FDXR FEZF1 FGF12 FGF14 FGF17 FGF8 FGFR1 FGFRL1 FLRT1 FLRT3 FMR1 FOXC1 FOXE3 FOXL2 FOXP1 FOXRED1 FRMD7 FRMPD4 FRRS1L FSCN2 FXN GABRB2 GABRD GALC GAN GBA GBA2 GCH1 GDF3 GDF6 GFER GFM1 GJA1 GJA8 GJB1 GJC2 GLRX5 GM2A GMPPA GMPPB GNAS GNAT1 GNAT2 GNB1 GNB3 GNB5 GPAA1 GPR143 GPR179 GRIA4 GRID2 GRIN2D GRK1 GRM1 GRM6 GTF2E2 GTF2I GTF2IRD1 GUCA1B GUCY2D HARS HCN1 HDAC8 HECW2 HESX1 HGSNAT HIBCH HIKESHI HMGB3 HMX1 HPS1 HPS3 HPS4 HPS5 HPS6 HS6ST1 HSD17B10 HSD17B4 HSPD1 HTRA1 HTT HYLS1 IARS2 IBA57 IDH3B IFIH1 IFRD1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT88 IGBP1 IL17RD IMPDH1 IMPG2 INPP5E INPP5K IQCB1 IRF2BPL ISCA2 ITPR1 KAT6B KCNA2 KCNAB2 KCNB1 KCNC3 KCND3 KCNJ13 KCNMA1 KCNV2 KDM6A KIAA0556 KIAA0586 KIAA0753 KIAA1549 KIDINS220 KIF11 KIF1A KIF1C KIF2A KIF5A KIF7 KISS1R KIZ KLC2 KLHL7 KMT2A KMT2D KRAS L1CAM L2HGDH LAGE3 LAMA1 LAMB2 LARGE1 LCA5 LETM1 LIG4 LIM2 LIMK1 LIPT1 LMNB1 LONP1 LRAT LRIT3 LRMDA LRP4 LRP5 LYRM7 LYST LZTFL1 LZTR1 MAB21L2 MAD2L2 MAF MAFB MAG MAK MAN2B1 MAP2K1 MAP2K2 MARS2 MBTPS2 MC1R MCOLN1 MECR MERTK MICOS13 MITF MKKS MKS1 MMACHC MMADHC MME MOCS1 MOCS2 MPC1 MPDU1 MPLKIP MPV17 MPZ MRE11 MRPS34 MTFMT MTPAP MTR MTRR MVK MYO5A MYO7A MYO9A NAA10 NADK2 NAGA NALCN NANS NARS2 NAXE NDP NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB11 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NECAP1 NEFL NEK2 NELFA NEU1 NFIX NHS NIPBL NKX6-2 NME1 NMNAT1 NOP56 NPHP1 NPHP4 NR2E3 NR2F1 NRAS NRL NSD1 NSD2 NSMF NSUN2 NT5C2 NTRK2 NUBPL NUP62 NUS1 NYX OCA2 OCLN OCRL OFD1 OGT OPA1 OPA3 OPHN1 OPN1LW OPN1MW OTX2 PACS1 PACS2 PALB2 PAX2 PAX6 PCARE PCYT1A PDE6A PDE6B PDE6C PDE6D PDE6G PDE6H PDGFRB PDHA1 PDP1 PDZD7 PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHF21A PHF6 PHGDH PHIP PHYH PIBF1 PIGN PIGS PIGT PIK3R5 PITX2 PITX3 PLA2G6 PLAA PLD3 PLEKHG2 PLK4 PLP1 PMM2 PMP22 PMPCA PNPLA6 PNPO PNPT1 POC1B POLG POLR3A POLR3B POMGNT1 PORCN PPP3CA PRCD PRDM16 PRDX1 PRKCG PRKD1 PRNP PROK2 PROKR2 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRRT2 PRSS12 PRX PSMD12 PTPN11 PTPN22 PURA PYCR2 RAB11B RAB18 RAD21 RAD51 RAD51C RAF1 RAP1A RAP1B RARS RASA2 RBP3 RD3 RDH12 RECQL4 REEP6 RERE RFC2 RFWD3 RGR RHO RIT1 RLBP1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF216 RNU12 RNU4ATAC ROBO3 ROM1 RORA RP1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPIA RRAS RTN4IP1 RUBCN SACS SAG SALL2 SALL4 SAMD9L SAMHD1 SCAPER SCN1A SCN3A SCN8A SDCCAG8 SDHA SDHAF1 SDHB SDHD SEMA3A SEMA3E SEMA4A SERPINI1 SETD5 SETX SH3TC2 SIL1 SIM1 SIN3A SIX6 SKI SLC12A6 SLC13A5 SLC16A2 SLC17A5 SLC18A3 SLC19A2 SLC19A3 SLC1A2 SLC1A3 SLC24A1 SLC24A5 SLC25A1 SLC25A20 SLC25A24 SLC25A4 SLC25A46 SLC29A3 SLC2A1 SLC33A1 SLC35A1 SLC35A2 SLC38A8 SLC39A8 SLC45A2 SLC4A11 SLC52A2 SLC5A7 SLC6A19 SLC6A3 SLC7A14 SLC9A1 SLC9A6 SLX4 SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SNAP25 SNIP1 SNRNP200 SNX10 SNX14 SON SOS1 SOS2 SOST SOX10 SOX11 SOX2 SOX3 SPAST SPATA5 SPATA7 SPG11 SPG7 SPRY4 SPTBN2 SQSTM1 SRD5A3 SRY STUB1 STX16 STXBP1 SUFU SURF1 SYNE1 SYNGAP1 SYNJ1 SYT1 SYT14 SYT2 SZT2 TACO1 TACR3 TAF1 TAF2 TAT TBC1D24 TBL1XR1 TBL2 TBP TCIRG1 TCTN1 TCTN2 TCTN3 TDP1 TENM3 TFAP2A TINF2 TMEM106B TMEM126A TMEM138 TMEM216 TMEM231 TMEM237 TMEM240 TMEM67 TNFRSF11A TNFSF11 TOE1 TOPORS TPP1 TRAF3IP1 TRAK1 TRAPPC6B TREX1 TRIM32 TRIM44 TRPM1 TTBK2 TTC19 TTC8 TTPA TTR TUB TUBB3 TUBB4A TUBGCP4 TUBGCP6 TUFM TULP1 TWNK TYR TYRP1 UBA5 UBE2T UBE3A UBE3B UCHL1 UNC80 UROC1 USH2A USP8 VAMP1 VHL VLDLR VPS13A VPS13B VPS13D VWA3B WARS2 WDPCP WDR11 WDR19 WDR35 WDR48 WDR73 WFS1 WHCR WHRN WT1 WWOX XRCC1 XRCC2 XRCC4 XYLT2 YAP1 YARS2 YWHAG ZFYVE26 ZNF408 ZNF423 ZNF513

Diseases (724) :309246 248111 137902 648 442835 616339 615889 791 827 2802 612674 98907 275630 614559 2971 264470 1885 51 615010 617008 606854 231178 618170 103050 101109 1369 212350 98914 618276 220493 475 608629 260600 65 601162 324422 79326 607906 64 203800 52022 228390 251066 261250 613728 478 2067 230740 608233 284804 617050 613744 3258 617523 1465 135900 110 3157 2508 300004 333 271900 496790 617183 94122 601238 616517 100 208900 101 125370 306674 617225 569 104290 614820 601338 302500 615228 644 551500 617402 98755 164400 603516 98756 94147 164500 98760 608768 709 261540 609195 617120 209900 568 256000 893 217012 193220 139471 607932 99872 115150 1340 618056 84 257300 613559 615035 610427 215 97 617106 141500 618285 178333 300476 300600 616907 163937 300749 606721 2318 216360 1454 612285 1573 617761 614845 610188 617236 602271 138 614961 233 3463 667 248250 2196 248190 256731 615803 216900 217080 1873 263501 613489 560 1571 267750 94068 607426 255241 2754 277170 194190 600105 1377 604219 611544 604307 48431 604168 617572 708 100986 270800 615945 615281 611105 300067 251880 35107 602398 818 270400 268882 245348 617384 314404 608093 608799 274270 614076 302960 616277 277580 101112 609306 304110 145900 85282 1955 133190 423296 615957 1493 242840 617951 610758 220295 601675 278760 214150 133540 216400 75857 3103 617763 614678 618065 612319 615471 617717 320406 300623 250923 88632 610256 110100 613670 300983 616981 95 229300 1606 245200 256850 320391 352641 614409 613703 609060 2710 1175 302800 401866 616859 615510 363623 615351 615352 94089 79443 79444 103580 612462 612463 613856 488613 616973 617173 617810 54 614565 617864 616204 616943 601777 204000 199 617268 250620 616881 612109 203300 614072 614075 300438 261515 233400 612233 600142 616007 615330 98771 1515 218330 266920 52055 613837 559 618088 616370 208513 206700 117360 98768 605259 98772 614186 79137 2322 616784 521390 617296 152950 614255 615411 617235 200990 609541 2182 236792 301006 615960 614199 604537 280 235 615277 99027 169500 1458 613341 615179 2790 615838 167 214500 615877 459056 616680 248500 615279 615280 2273 79432 578 617282 67047 103470 617121 277400 277410 617018 252150 252160 609180 234050 256810 617664 614947 254343 613672 250940 2169 236270 610377 33445 79476 618198 431361 616034 79279 609241 615419 610442 616239 617186 649 305390 618236 618233 618237 618238 300952 618226 618228 252010 618232 618229 617882 812 256550 614753 627 302350 122470 527497 617560 256700 608553 614153 220497 609583 615722 117550 613162 617830 618242 203200 251290 534 300997 210000 67036 300486 303700 615009 618067 1475 35737 2253 106210 120200 604229 85167 608940 613093 610024 615007 608782 912 772 44 214100 614871 614920 614877 614867 614872 617370 95433 614863 773 266500 127 301900 601815 617991 614080 618143 615398 615217 35069 256600 610217 521426 617527 617770 616763 2518 99015 312080 312920 212065 1170 213200 2377 1173 245800 275400 614932 615973 70595 607459 447896 607694 264090 253280 305600 605361 617364 157941 301835 249500 617516 397 616158 616420 617807 614222 438114 616140 610612 1225 610329 612951 512260 1824 2744 618060 613794 304020 611560 608611 616732 404499 615705 270550 216820 959 2585 159550 3208 252011 604218 606002 601596 248800 171829 94065 613406 212550 1496 604369 269920 617239 249270 607483 612656 370097 113750 159 2095 616505 1782 71277 606777 608885 614482 603585 300896 609218 616721 79435 606574 1490 614707 2116 613135 616291 85278 616354 500150 269500 163746 609136 611584 182601 616577 604232 2822 99013 607259 615386 617145 612379 1772 615768 617757 610743 618218 614229 300966 615599 28378 259700 616654 113620 268130 617964 608091 614424 98773 607454 613550 612301 614969 609270 616629 617862 225750 613216 604432 615157 96 105210 300570 614039 612438 616335 251270 610678 600132 271245 616138 79431 79434 606952 203100 79433 203290 617133 105830 2707 244450 615491 616801 276880 401795 892 2388 193 607317 616948 617710 401800 251300 222300 284282 617633 616541 85194 605822 1473 613561 100996 270700 610246 604393 447753 300884 284289 208920 49382 221900 513436 98761 183090 276241 276238 276244 109150 904 614077 614171 98758 108500 183086 616795 211067 613855 98933 227510 613835 613829 453521 363710 614388 2514 98764 609307 310700 231005 98808 330054 608804 300814 300500 363432 614831 614504 300915 614073 614074 610356 397946 611302 608840 2788 314603 611390 614741 251347 604391 606996 320396 271930 125250 165500 136520 616716 280633 64753 610090 614381 98763 282166 613826 614306 300523 209967 614501 604360 352403 600224 412057 616684 79500 602342 607136 94124 615145 612989 284324 98767 613843 224050 614322 225154 117210 458803 262300 324262 606658 607346 601813 98 284271 2752 210128

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

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