Human Phenotype Ontology 
Grandparent Node:
expand
obsolete Abnormal globe morphology (HP:0012374)help
Parent Node:
expand
Abnormal anterior eye segment morphology (HP:0004328)help
..Starting node
..expand
Abnormality of the lens (HP:0000517)help
Term ID: 517
Name: Abnormality of the lens
Synonym: Abnormality of the lens; Lens disease; Lens issue
Definition: An abnormality of the lens.
Comments:
Reference: HP:0000517
Genes and Diseases:
 
       Child Nodes:
........expandCataract (HP:0000518) help
................... HP:0000519 Congenital cataract
................... HP:0000523 Subcapsular cataract
................... HP:0001118 Juvenile cataract
................... HP:0007819 Presenile cataracts
................... HP:0007834 Progressive cataract
................... HP:0010696 Polar cataract
................... HP:0010700 Total cataract
................... HP:0010920 Zonular cataract
................... HP:0010922 Membranous cataract
................... HP:0011141 Age-related cataract
................... HP:0025571 Christman tree cataract
................... HP:0100017 Capsular cataract
........expandEctopia lentis (HP:0001083) help
................... HP:0001132 Lens subluxation
................... HP:0012019 Lens luxation
........expandAplasia/Hypoplasia of the lens (HP:0008063) help
................... HP:0007707 Aphakia
................... HP:0012376 Microphakia
................... HP:0030961 Microspherophakia
................... HP:0100719 Lens coloboma
........expandAbnormality of lens shape (HP:0011526) help
................... HP:0001142 Lenticonus
................... HP:0011527 Lentiglobus
........expandPhakodonesis (HP:0012629) help

 Sister Nodes: 
..expandAbnormal anterior chamber morphology (HP:0000593) help
..expandAbnormal cornea morphology (HP:0000481) help
..expandAbnormal suspensory ligament of lens morphology (HP:0012628) help
..expandAbnormality iris morphology (HP:0000525) help
..expandAplasia/Hypoplasia affecting the anterior segment of the eye (HP:0008062) help
..expandPseudoexfoliation (HP:0012627) 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:0000517HP:0000517Abnormality of the lens0 CL E G H
HP:0000517HP:0000517Abnormality of the lens1 CL E G H
HP:0000517HP:0000517Abnormality of the lens2 CL E G H
HP:0000517HP:0000517Abnormality of the lens3 CL E G H
HP:0000517HP:0000517Abnormality of the lens4 CL E G H
HP:0000517HP:0000517Abnormality of the lens5 CL E G H


Genes (632) :AASS ABCA12 ABCA4 ABHD12 ABHD5 ACTB ADAMTS10 ADAMTS17 ADAMTS18 ADAMTSL4 ADGRV1 AFF4 AGA AGBL5 AGK AHI1 AHR AIPL1 AIRE AKT1 ALDH18A1 ALDH6A1 ALG2 ALG8 ALMS1 ALX1 ALX3 AMER1 AMMECR1 ANO10 AP1S1 APC ARHGAP31 ARHGEF18 ARID1A ARID1B ARID2 ARL2BP ARL3 ARL6 ARSE ARSG ARVCF ASPH ATAD3A ATOH7 ATP6V1A ATP6V1B2 ATP8A2 B3GALNT2 B3GALT6 B3GLCT B4GALNT1 B4GAT1 B9D1 B9D2 BAP1 BAZ1B BBIP1 BBS1 BBS2 BCOR BCS1L BDNF BEST1 BFSP1 BFSP2 BMP4 BRCA1 BRCA2 BRIP1 BTNL2 BUB1 BUB1B BUB3 C12ORF57 C4A C8ORF37 CA4 CA8 CASK CAV1 CBS CC2D2A CCR1 CDH11 CDH23 CDHR1 CENPF CEP164 CEP290 CEP55 CEP57 CEP78 CERKL CFAP410 CHMP4B CHRDL1 CIB2 CLIP2 CLN3 CLPB CLRN1 CNBP CNGA1 CNGB1 CNGB3 COG4 COL11A1 COL18A1 COL1A1 COL2A1 COL4A1 COL4A3 COL4A4 COL4A5 COL5A1 COL5A2 COL7A1 COL9A1 COL9A2 COL9A3 COMT COX1 COX2 COX3 COX7B CPAMD8 CPT2 CRB1 CREBBP CRPPA CRX CRYAA CRYAB CRYBA1 CRYBA2 CRYBA4 CRYBB1 CRYBB2 CRYBB3 CRYGB CRYGC CRYGD CRYGS CSPP1 CTC1 CTDP1 CYP1B1 CYP27A1 CYP7B1 CYSLTR2 CYTB DACT1 DAG1 DDB2 DGUOK DHCR7 DHDDS DHX38 DKC1 DLL4 DMPK DNMT1 DOCK6 DPAGT1 DPF2 DSG4 DYNC2H1 EBP EED ELN ENTPD1 EOGT EP300 EPG5 EPHA2 ERAP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 ETFA ETFB ETFDH EYS FAM111A FAM111B FAM126A FAM161A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FAS FBN1 FBN2 FBXL4 FGF3 FGF5 FH FIG4 FKRP FKTN FLI1 FLNA FLNB FLVCR1 FOXC1 FOXC2 FOXE3 FSCN2 FTL FYCO1 FZD4 GABRD GALK1 GALT GBA2 GCM2 GCNT2 GDF6 GEMIN4 GFER GJA1 GJA3 GJA8 GJB3 GJB4 GJB6 GLA GMPPB GNA11 GNAQ GNAS GNPAT GP1BB GTF2H5 GTF2I GTF2IRD1 GTPBP2 GUCA1B GUCY2D HARS HBB HCCS HDAC8 HGSNAT HIRA HLA-A HLA-B HLA-DRB1 HMX1 HNRNPA1 HNRNPA2B1 HNRNPDL HSF4 HSPG2 HTRA2 IARS2 IDH3B IFT140 IFT172 IFT80 IFT88 IKBKG IL10 IL12A IL12A-AS1 IL23R IMPDH1 IMPG2 INPP5E INPP5K INVS IQCB1 ITM2B ITPA JAG1 JAM3 JMJD1C KANSL1 KCNAB2 KCNH1 KCNJ13 KCTD1 KDSR KIAA1109 KIAA1549 KIF11 KIF1B KIZ KLHL7 KLLN KLRC4 KMT2A KRT16 KRT17 KRT25 KRT6A KRT6B KRT71 KRT74 KRT81 KRT83 KRT86 LAMB1 LAMB2 LARGE1 LCA5 LEMD2 LIG4 LIM2 LIMK1 LIPH LMNA LMX1B LONP1 LPAR6 LRAT LRP2 LRP4 LRP5 LSS LTBP2 MAB21L2 MAD2L2 MAF MAFA MAK MAP2K2 MED25 MEFV MERTK MFRP MIP MIPEP MIR184 MIR204 MKS1 MOCS1 MOCS2 MSMO1 MTAP MVK MYMK MYO7A NAA10 NACC1 NAGA ND1 ND4 ND5 ND6 NDP NDUFB11 NEK2 NEK9 NEU1 NF2 NHP2 NHS NIPBL NMNAT1 NOD2 NOP10 NOTCH1 NOTCH2 NPHP1 NPHP3 NPHP4 NR2E3 NRL NSUN2 OAT OCLN OCRL OFD1 OPA3 OTX2 P3H2 PAH PALB2 PARN PAX2 PAX6 PCARE PCDH15 PCYT1A PDE6A PDE6B PDE6G PDZD7 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHF6 PHGDH PHYH PIGY PIK3CA PIK3R1 PITX2 PITX3 PLCG2 PLK4 PLOD3 PMPCA PNPLA6 PNPT1 POLG POLG2 POLR1C POLR1D POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN PQBP1 PRCD PRDM16 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRUNE1 PSAT1 PTCH1 PTCH2 PTEN PTH PTH1R PTPN22 PXDN RAB18 RAB3GAP1 RAB3GAP2 RAD21 RAD51 RAD51C RB1 RBP3 RBPJ RD3 RDH12 RECQL4 REEP6 RERE RET RFC2 RFWD3 RGR RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPS6KA3 RREB1 RRM2B RS1 RSPO2 RTEL1 RXYLT1 SAG SALL1 SALL2 SALL4 SC5D SCAPER SDCCAG8 SDHB SDHC SDHD SEC23A SEC23B SEC24C SEMA4A SETD5 SF3B1 SIL1 SIPA1L3 SIX6 SKI SLC16A12 SLC25A4 SLC2A1 SLC33A1 SLC40A1 SLC4A4 SLC7A14 SLX4 SMAD3 SMAD4 SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SMCHD1 SNRNP200 SOX11 SPATA7 SPRTN SRD5A3 STAT4 STX16 SUFU SUMF1 SUOX TAP1 TAP2 TAPBP TBC1D20 TBC1D24 TBL2 TBR1 TBX1 TCOF1 TCTN2 TDRD7 TERC TERT TFAP2A TGFBI TGM3 TINF2 TLR4 TMEM107 TMEM216 TMEM231 TMEM67 TMEM70 TMTC3 TOPORS TRAF3IP1 TRAPPC11 TRIM44 TRIP13 TRNC TRNE TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW TRPV4 TTC8 TUB TUBB2B TUBG1 TUBGCP6 TULP1 TWNK UBA5 UBAC2 UBE2T UFD1 UNC45B USB1 USH1C USH1G USH2A USP8 USP9X VAC14 VCAN VCP VHL VIM VLDLR VPS13A VSX2 WDPCP WDR19 WDR34 WDR35 WDR60 WDR73 WDR81 WFS1 WHRN WNT3 WRAP53 WRN WT1 XPA XPC XRCC2 XRCC4 XYLT2 YAP1 ZBTB20 ZNF335 ZNF408 ZNF513

Diseases (530) :238700 457 791 79107 607371 3449 277600 613195 1885 225200 225100 231178 616368 208400 1369 65 3453 240300 201 744 615109 35664 219150 601162 616586 614105 79326 607906 79325 64 306542 391474 136760 2780 300990 284289 609313 3258 974 1465 618173 302950 231183 567 601552 496790 221900 617403 3473 1766 899 588 615181 93359 271640 709 261540 101006 609195 564 904 615995 209900 568 2712 124000 893 139471 84 797 1052 257300 117 614500 163937 394 612285 211380 231169 96253 243605 3156 309300 204200 616271 606 262300 85172 618150 560 90654 250984 604841 1571 287 485 94068 166011 90653 132450 156550 108300 203780 130000 79409 226600 550 309801 617319 608836 613835 180849 614643 613829 1377 608810 116100 1775 48431 909 213700 100986 270800 857 616538 910 329314 818 270400 618220 305000 273 160900 314404 608093 573 93271 35173 302960 300960 617561 1493 1466 610756 601675 278730 610651 278780 214150 133540 216400 3103 268300 615704 616154 3437 284979 2084 129600 616914 154700 608328 115 121050 615471 2791 190330 523 3472 216340 613153 236670 253800 272 2308 90652 272460 88628 250923 33001 88632 610256 254704 163 610019 1606 79237 230200 79239 230400 320391 614409 146200 617913 613076 2710 164200 257850 317 189 129500 324 363623 615351 615352 79443 79444 94089 103580 612462 612463 222765 616395 617988 204000 231214 199 179 612109 52430 609115 800 255800 617248 616007 464 308300 610156 559 617404 616647 118450 613730 610443 135500 614186 193230 2036 617822 2526 152950 2309 170 615191 613154 235 90153 2614 161200 1458 600373 222448 259770 613086 251750 614819 615877 616449 611040 615274 617228 252160 29 610377 254940 617393 79281 190 649 310600 64754 812 256550 637 627 90340 186580 955 268100 611131 251290 534 165300 610125 614292 79254 261600 120330 35737 2253 106210 772 912 44 214100 614885 614876 614877 614866 614872 614882 617370 214110 773 614879 266500 127 2671 256520 615108 269880 610623 614878 616171 612394 1170 2377 614932 254892 70595 157640 607459 861 253280 615249 613150 2092 305600 309500 617481 77301 377 109400 2969 158350 50945 269400 2510 1387 401830 212720 1587 221016 613731 312600 180104 204100 613826 192 792 3301 216820 959 607323 46059 607330 618195 212550 612018 615418 608885 614482 606069 604278 613795 2588 139210 603457 2250 612713 585 272300 604571 79500 220500 1617 613887 1297 113620 121900 614052 617255 369840 369847 615356 617142 225 2635 615412 251270 609286 617133 300968 143200 892 224050 2388 610092 614376 251300 273395 902 277700 616541 85194 605822 120433 1473 3042 615095 616468 612674 98907 275630 212350 614691 447753 447757 616603 203800 39044 300166 611597 218340 606721 236200 154780 267750 607595 104200 301050 540000 604219 613763 600881 115900 611544 601547 609741 615188 604307 115700 604168 708 614219 615683 242840 116600 231680 93325 127000 85163 610532 83461 133780 116700 330054 601885 116200 436174 181270 171300 212500 79474 601813 616509 601088 147630 615280 614303 616722 252150 616834 112250 302350 309000 136520 614920 202370 616716 215100 79351 601815 616809 613155 614222 600118 614225 268400 248800 616851 615663 617251 616279 116400 615458 261584 615434 616562 611391 617547 605387 399058 610425 602772 600886 116800 180105 613581 117300 609049 101000 302200 258870 300424 67036 107250 615233 617304 607812 616200 600132 116300 259050 616469 193220 602668 610202 50814 615277
 

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