Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye morphology (HP:0012372)help
Parent Node:
expand
obsolete Abnormal globe morphology (HP:0012374)help
..Starting node
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Abnormal anterior eye segment morphology (HP:0004328)help
Term ID: 4328
Name: Abnormal anterior eye segment morphology
Synonym: Abnormal anterior segment morphology; Abnormality of the anterior segment of the eye; Abnormality of the anterior segment of the eyeball; Abnormality of the anterior segment of the globe
Definition: An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens).
Comments:
Reference: HP:0004328
Genes and Diseases:
 
       Child Nodes:
........expandAbnormal cornea morphology (HP:0000481) help
................... HP:0001120 Abnormality of corneal size
................... HP:0001131 Corneal dystrophy
................... HP:0001140 Epibulbar dermoid
................... HP:0007705 Corneal degeneration
................... HP:0007957 Corneal opacity
................... HP:0008000 Decreased corneal reflex
................... HP:0008048 Abnormality of the line of Schwalbe
................... HP:0011486 Abnormality of corneal thickness
................... HP:0011488 Abnormality of corneal endothelium
................... HP:0011492 Abnormality of corneal stroma
................... HP:0011495 Abnormality of corneal epithelium
................... HP:0011496 Corneal neovascularization
................... HP:0012155 Decreased corneal sensation
................... HP:0025348 Abnormality of the corneal limbus
................... HP:0040004 Abnormality of corneal shape
................... HP:0100583 Corneal perforation
................... HP:0100691 Abnormality of the curvature of the cornea
................... HP:0500008 Cornea verticillata
........expandAbnormality of the lens (HP:0000517) help
................... HP:0000518 Cataract
................... HP:0001083 Ectopia lentis
................... HP:0008063 Aplasia/Hypoplasia of the lens
................... HP:0011526 Abnormality of lens shape
................... HP:0012629 Phakodonesis
........expandAbnormality iris morphology (HP:0000525) help
................... HP:0000612 Iris coloboma
................... HP:0000615 Abnormal pupil morphology
................... HP:0001089 Iris atrophy
................... HP:0001101 Iritis
................... HP:0007905 Abnormal iris vasculature
................... HP:0008034 Abnormal iris pigmentation
................... HP:0008053 Aplasia/Hypoplasia of the iris
................... HP:0009737 Lisch nodules
................... HP:0011523 Iris cyst
................... HP:0011524 Iris melanoma
................... HP:0011525 Iris nevus
................... HP:0025358 Uveal ectropion
................... HP:0100693 Iridodonesis
................... HP:0500007 Iris flocculi
........expandAbnormal anterior chamber morphology (HP:0000593) help
................... HP:0000594 Shallow anterior chamber
................... HP:0007700 Anterior segment dysgenesis
................... HP:0007765 Deep anterior chamber
................... HP:0007833 Anterior chamber synechiae
................... HP:0008037 Absent anterior chamber of the eye
................... HP:0011485 Corneolenticular adhesion
................... HP:0012630 Abnormal trabecular meshwork morphology
................... HP:0025311 Anterior chamber cyst
................... HP:0025560 Anterior chamber cells
................... HP:0031615 Hypopyon
................... HP:0031616 Anterior chamber flare
................... HP:0031701 Anterior chamber inflammatory cells
................... HP:0031702 Anterior chamber red blood cells
........expandAplasia/Hypoplasia affecting the anterior segment of the eye (HP:0008062) help
................... HP:0007779 Anterior segment of eye aplasia
................... HP:0008053 Aplasia/Hypoplasia of the iris
................... HP:0008063 Aplasia/Hypoplasia of the lens
........expandPseudoexfoliation (HP:0012627) help
........expandAbnormal suspensory ligament of lens morphology (HP:0012628) help

 Sister Nodes: 
..expandAbnormal posterior eye segment morphology (HP:0004329) help
..expandAbnormal sclera morphology (HP:0000591) help
..expandAbnormal uvea morphology (HP:0000553) help
..expandAbnormality of globe location (HP:0100886) 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:0004328HP:0004328Abnormal anterior eye segment morphology0 CL E G H
HP:0004328HP:0004328Abnormal anterior eye segment morphology1 CL E G H
HP:0004328HP:0004328Abnormal anterior eye segment morphology2 CL E G H
HP:0004328HP:0004328Abnormal anterior eye segment morphology3 CL E G H
HP:0004328HP:0004328Abnormal anterior eye segment morphology4 CL E G H
HP:0004328HP:0004328Abnormal anterior eye segment morphology5 CL E G H
HP:0004328HP:0004328Abnormal anterior eye segment morphology6 CL E G H


Genes (999) :AAAS AASS ABCA1 ABCA12 ABCA4 ABHD12 ABHD5 ACTA2 ACTB ACTG1 ADAMTS10 ADAMTS17 ADAMTS18 ADAMTSL1 ADAMTSL4 ADAR ADGRV1 AFF4 AGA AGBL1 AGBL5 AGK AHI1 AHR AIPL1 AIRE AKT1 ALDH18A1 ALDH3A2 ALDH6A1 ALG2 ALG3 ALG8 ALMS1 ALOX12B ALOXE3 ALX1 ALX3 AMACR AMER1 AMMECR1 ANK1 ANKRD11 ANO10 ANTXR1 AP1S1 AP3B1 AP3D1 APC APOA1 APOB APOE ARCN1 ARHGAP31 ARHGEF18 ARHGEF2 ARID1A ARID1B ARID2 ARL13B ARL2BP ARL3 ARL6 ARL6IP6 ARMC9 ARSB ARSE ARSG ARVCF ASAH1 ASPA ASPH ASXL1 ATAD3A ATOH7 ATP6V1A ATP6V1B2 ATP7B ATP8A2 B2M B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALNT1 B4GAT1 B9D1 B9D2 BAP1 BAZ1B BBIP1 BBS1 BBS2 BCOR BCS1L BDNF BEST1 BFSP1 BFSP2 BLOC1S3 BLOC1S6 BMP4 BRCA1 BRCA2 BRIP1 BTD BTNL2 BTRC BUB1 BUB1B BUB3 C12ORF57 C1QBP C4A C8ORF37 CA4 CA8 CACNA1F CANT1 CASK CAV1 CBS CC2D2A CCDC22 CCR1 CDH11 CDH23 CDHR1 CDON CENPF CEP104 CEP120 CEP164 CEP290 CEP41 CEP55 CEP57 CEP78 CERKL CERS3 CFAP410 CHD3 CHD4 CHD7 CHMP1A CHMP4B CHN1 CHRDL1 CHST14 CHST3 CHST6 CIB2 CLDN16 CLDN19 CLIP2 CLN3 CLPB CLRN1 CNBP CNGA1 CNGB1 CNGB3 COG4 COL11A1 COL17A1 COL18A1 COL1A1 COL25A1 COL2A1 COL3A1 COL4A1 COL4A3 COL4A4 COL4A5 COL5A1 COL5A2 COL7A1 COL8A2 COL9A1 COL9A2 COL9A3 COLEC10 COLEC11 COMT COX1 COX2 COX3 COX7B CPAMD8 CPLANE1 CPLX1 CPT2 CRB1 CREBBP CRLF1 CRPPA CRX CRYAA CRYAB CRYBA1 CRYBA2 CRYBA4 CRYBB1 CRYBB2 CRYBB3 CRYGB CRYGC CRYGD CRYGS CSPP1 CTBP1 CTC1 CTDP1 CTNS CTSA CYP1B1 CYP27A1 CYP4V2 CYP7B1 CYSLTR2 CYTB DACT1 DAG1 DCN DDB2 DEAF1 DGCR2 DGCR6 DGCR8 DGUOK DHCR7 DHDDS DHX38 DIS3L2 DISP1 DKC1 DLL1 DLL4 DLX5 DLX6 DMPK DNAI1 DNAJC21 DNMT1 DOCK6 DPAGT1 DPF2 DPYD DSG4 DST DTNBP1 DYNC2H1 EBF3 EBP EDN3 EDNRB EED ELMO2 ELN ELP1 EMC1 ENTPD1 EOGT EP300 EPG5 EPHA2 EPS15L1 ERAP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ESCO2 ESS2 ETFA ETFB ETFDH EXOSC2 EYS FAM111A FAM111B FAM126A FAM161A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FAS FBN1 FBN2 FBXL4 FERMT1 FGD1 FGF10 FGF3 FGF5 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIG4 FKBP14 FKRP FKTN FLI1 FLII FLNA FLNB FLVCR1 FOXC1 FOXC2 FOXE3 FOXH1 FOXL2 FRAS1 FSCN2 FTL FUCA1 FUT8 FYCO1 FZD4 GABRD GALK1 GALNS GALT GAS1 GATA1 GBA GBA2 GCM2 GCNT2 GDF3 GDF6 GEMIN4 GFER GJA1 GJA3 GJA8 GJB2 GJB3 GJB4 GJB6 GLA GLB1 GLI2 GLIS3 GLRB GMPPA GMPPB GNA11 GNAQ GNAS GNPAT GNPTAB GNPTG GORAB GP1BB GPC3 GPR143 GRHL2 GSN GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTPBP2 GUCA1B GUCY2D GUSB GZF1 H19 HARS HBB HCCS HDAC8 HERC2 HGSNAT HHAT HIRA HIST1H1E HLA-A HLA-B HLA-DRB1 HLCS HMGB3 HMX1 HNRNPA1 HNRNPA2B1 HNRNPDL HPS1 HPS4 HPS5 HPS6 HRAS HSF4 HSPG2 HTRA2 HYLS1 IARS2 IDH3B IDUA IFIH1 IFT140 IFT172 IFT80 IFT88 IGBP1 IGF1R IKBKG IKZF1 IL10 IL12A IL12A-AS1 IL23R IMPDH1 IMPG1 IMPG2 INPP5E INPP5K INVS IPW IQCB1 IQSEC2 ITM2B ITPA ITPR1 JAG1 JAM3 JMJD1C KANSL1 KCNAB2 KCNH1 KCNJ13 KCNV2 KCTD1 KDM5B KDM6A KDSR KERA KIAA0556 KIAA0586 KIAA1109 KIAA1549 KIDINS220 KIF11 KIF1A KIF1B KIF1BP KIT KITLG KIZ KLHL7 KLLN KLRC4 KMT2A KMT2B KMT2D KRAS KRT12 KRT16 KRT17 KRT25 KRT3 KRT6A KRT6B KRT71 KRT74 KRT81 KRT83 KRT86 LAMB1 LAMB2 LARGE1 LBR LCA5 LCAT LDLR LEMD2 LETM1 LIFR LIG4 LIM2 LIMK1 LIPH LMNA LMX1B LONP1 LOX LPAR6 LRAT LRP2 LRP4 LRP5 LSS LTBP2 LYST MAB21L2 MAD2L2 MAF MAFA MAFB MAG MAGEL2 MAK MAP2K2 MAPRE2 MARK3 MASP1 MAT2A MAX MBD5 MBTPS2 MC1R MCOLN1 MDH2 MED25 MEFV MEGF8 MERTK MFAP5 MFRP MIP MIPEP MIR184 MIR204 MITF MKRN3 MKRN3-AS1 MKS1 MLPH MLXIPL MMP1 MMP14 MMP2 MOCS1 MOCS2 MPDZ MPLKIP MPV17 MPZ MSMO1 MTAP MVK MYH11 MYLK MYMK MYO5A MYO7A MYOC NAA10 NACC1 NAGA ND1 ND4 ND5 ND6 NDN NDP NDUFB11 NEK2 NEK9 NELFA NEU1 NF1 NF2 NFIX NGLY1 NHP2 NHS NIPAL4 NIPBL NLRP1 NLRP3 NMNAT1 NOD2 NODAL NOP10 NOTCH1 NOTCH2 NOTCH3 NPAP1 NPHP1 NPHP3 NPHP4 NR2E3 NRAS NRL NSD2 NSUN2 NTRK1 OAT OCA2 OCLN OCRL OFD1 OPA3 OPN1LW OPN1MW OSMR OTX2 OVOL2 P3H2 PACS2 PAH PALB2 PARN PAX2 PAX3 PAX6 PCARE PCDH15 PCYT1A PDE4D PDE6A PDE6B PDE6G PDGFB PDGFRB PDZD7 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHF6 PHGDH PHOX2B PHYH PIBF1 PIEZO2 PIGL PIGN PIGY PIK3CA PIK3R1 PIKFYVE PITX2 PITX3 PLCG2 PLEC PLG PLK4 PLOD1 PLOD3 PLXND1 PMPCA PNPLA1 PNPLA6 PNPT1 POGZ POLA1 POLG POLG2 POLH POLR1C POLR1D POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN POU6F2 PQBP1 PRCD PRDM12 PRDM16 PRDM5 PRKAR1A PRKG1 PRMT7 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRSS56 PRUNE1 PSAT1 PTCH1 PTCH2 PTEN PTH PTH1R PTPN22 PWAR1 PWRN1 PXDN PYCR1 RAB18 RAB23 RAB27A RAB3GAP1 RAB3GAP2 RAD21 RAD51 RAD51C RAI1 RAP1A RAP1B RAX RB1 RBP3 RBP4 RBPJ RD3 RDH12 RECQL4 REEP6 RERE REST RET RETREG1 REV3L RFC2 RFWD3 RGR RHO RIPK4 RLBP1 RNASEH2A RNASEH2B RNASEH2C RNF125 RNU4ATAC ROM1 RP1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPS6KA3 RREB1 RRM2B RS1 RSPO2 RTEL1 RXYLT1 SAG SALL1 SALL2 SALL4 SAMHD1 SC5D SCAPER SCARF2 SCN9A SDCCAG8 SDHA SDHAF2 SDHB SDHC SDHD SEC23A SEC23B SEC24C SEM1 SEMA3E SEMA4A SERPING1 SETD5 SF3B1 SH3PXD2B SHH SIL1 SIN3A SIPA1L3 SIX3 SIX6 SKI SLC16A12 SLC20A2 SLC24A5 SLC25A24 SLC25A4 SLC29A3 SLC2A1 SLC2A10 SLC33A1 SLC38A8 SLC39A4 SLC39A8 SLC40A1 SLC45A2 SLC4A11 SLC4A4 SLC52A2 SLC52A3 SLC7A14 SLX4 SMAD3 SMAD4 SMARCA4 SMARCAL1 SMARCB1 SMARCE1 SMC1A SMC3 SMCHD1 SMO SNAI2 SNORD115-1 SNORD116-1 SNRNP200 SNRPN SOS1 SOX10 SOX11 SOX2 SPATA7 SPINT2 SPRTN SRD5A3 SRY ST14 STAT4 STIM1 STS STX16 SUFU SUMF1 SUOX TACSTD2 TAP1 TAP2 TAPBP TAT TBC1D20 TBC1D24 TBC1D7 TBCE TBL1XR1 TBL2 TBR1 TBX1 TBX15 TBX2 TBX22 TCF4 TCOF1 TCTN1 TCTN2 TDGF1 TDRD7 TEAD1 TEK TENM3 TERC TERT TFAP2A TGFB2 TGFB3 TGFBI TGFBR1 TGFBR2 TGIF1 TGM1 TGM3 TINF2 TLR4 TMEM107 TMEM127 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TMEM70 TMTC3 TNXB TOPORS TP63 TRAF3IP1 TRAPPC11 TRAPPC2 TREX1 TRIM28 TRIM37 TRIM44 TRIP13 TRNC TRNE TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW TRPV3 TRPV4 TSC1 TSC2 TSPAN12 TTC8 TUB TUBB TUBB2B TUBG1 TUBGCP6 TULP1 TWIST1 TWIST2 TWNK TYR TYRP1 UBA5 UBAC2 UBE2T UBE3A UBE3B UBIAD1 UFD1 UNC45B UROC1 UROS USB1 USH1C USH1G USH2A USP8 USP9X VAC14 VARS VCAN VCP VHL VIM VLDLR VPS13A VPS13B VSX1 VSX2 WAC WAS WASHC5 WDPCP WDR19 WDR34 WDR35 WDR60 WDR73 WDR81 WFS1 WHCR WHRN WIPF1 WNK1 WNT10B WNT3 WRAP53 WRN WT1 XPA XPC XPR1 XRCC2 XRCC4 XYLT2 YAP1 ZBTB20 ZEB1 ZEB2 ZFHX2 ZIC2 ZMPSTE24 ZNF335 ZNF408 ZNF423 ZNF469 ZNF513

Diseases (953) :91387 97297 601776 293843 180849 244400 3019 149730 613001 782 2710 612109 118450 257920 65759 42665 190 3163 180550 107250 1617 614195 869 238700 425 31150 457 791 79107 243310 2995 607371 3449 277600 613195 1885 225200 225100 51 231178 616368 208400 615523 1369 212350 614691 220493 475 65 3453 240300 201 744 615109 176920 35664 447753 447757 616603 219150 601162 616586 614105 79326 607906 601110 79325 64 306542 391474 136760 2780 300990 251066 284289 609313 3258 974 1465 618173 302950 231183 567 333 601552 496790 221900 617403 618012 3473 1766 899 588 615181 93359 271640 245600 709 261540 101006 609195 564 39044 904 615995 209900 568 2712 309800 300166 124000 893 611597 139471 84 797 1052 257300 1777 218340 117 614500 251450 163937 606721 394 2318 1454 612285 7 211380 231169 96253 280200 243605 3156 138 214800 233 309300 217800 204200 616271 606 262300 85172 618150 90654 560 250984 154780 604841 1571 267750 287 485 94068 166011 90653 132450 156550 108300 286 607595 203780 301050 130000 79409 226600 136800 609140 550 540000 309801 617319 194190 608836 613835 614643 613829 1377 604219 608810 613763 600881 115900 611544 601547 609741 615188 604307 115700 116100 1775 48431 604168 351 708 617315 909 213700 100986 270800 857 616538 910 329314 818 270400 618220 305000 273 160900 314404 614219 608093 573 93271 35173 302960 300960 617561 1764 223900 615683 1493 242840 116600 1466 610756 601675 278730 610651 278780 214150 133540 216400 207 3103 268300 231680 617763 93325 127000 615704 85163 610532 616154 3437 284979 2084 129600 616914 154700 608328 115 121050 615471 2908 2791 190330 2396 147950 523 3472 216340 613153 236670 253800 272 2308 90652 300244 150250 272460 88628 250923 601631 33001 88632 610256 219000 254704 163 349 610019 1606 79237 230200 79239 230400 320391 614409 146200 116700 613702 617913 330054 613076 164200 257850 317 116200 477 148210 189 129500 301500 324 363623 615351 615352 3205 79443 79444 94089 103580 612462 612463 222765 576 54 616395 617988 204000 584 253220 617662 231214 199 179 52430 609115 163200 2612 800 255800 617248 436174 616007 93474 93473 93476 607015 607016 52055 300472 464 308300 610156 559 617404 616647 613730 610443 135500 614186 193230 2036 181270 617822 2526 152950 201300 171300 66629 3339 122100 2309 170 615191 609049 613154 79292 212500 280 3206 235 79474 90153 2614 161200 1458 600373 222448 2143 2788 259770 616509 613086 251750 614819 615877 601088 610202 147630 615280 85284 2273 308800 578 616449 611040 615274 617228 614303 616722 249000 277950 252160 615219 101082 616834 29 610377 132900 254940 137750 617393 79281 649 310600 64754 812 256550 193520 162210 162200 601321 637 615273 627 302350 617388 615225 90340 186580 955 2789 220497 268100 611131 251290 534 309000 165300 16 610125 122000 614292 79254 261600 120330 137902 2253 35737 106210 120200 604229 1980 772 912 44 214100 614920 614885 614876 614877 614866 614872 614882 617370 214110 616716 773 614879 266500 215100 127 79351 2671 256520 601815 2151 108145 3474 2059 616809 615108 269880 610623 614878 616171 1900 612394 570 1170 2377 614932 616364 70595 254892 157640 607459 861 253280 615249 613155 613150 2092 305600 309500 90354 614170 617481 377 77301 109400 610828 2969 158350 50945 269400 614438 2510 614222 1387 600118 401830 212720 614225 1587 616428 615147 221016 613731 1234 312600 180104 204100 613826 192 792 3301 216820 959 607323 46059 607330 618195 611638 248800 613406 616851 212550 612018 370097 615418 608885 3342 614482 609218 606069 1490 217400 613268 604278 613795 2588 139210 603457 2250 1553 77298 612713 1772 602400 160565 281090 585 272200 272300 204870 604571 28378 615663 79500 220500 2323 921 613887 615145 1297 113620 121820 121900 608470 602082 614052 617255 369847 369840 615356 617142 225 2635 805 613310 615412 251270 920 609286 617133 121800 300968 143200 892 224050 2388 193 610092 614376 251300 116400 273395 902 277700 616541 85194 605822 120433 1473 3042 613270 609141 235730 147430 615095 616468 229200 231550 205400 79394 612674 98907 275630 615458 521445 816 270200 203800 79095 261250 284804 617164 617523 135900 1556 253200 314918 905 277900 615287 99000 193220 614077 607932 654 79241 2440 617713 178333 300476 300600 236200 618205 617159 614961 249300 248250 248190 228520 122400 104200 89842 79408 231568 614134 2556 272430 256540 231300 600975 210370 610048 278740 819 192430 617052 293948 614653 617330 613265 277580 194050 616875 278760 278800 602361 3412 609053 173650 915 87 313855 123500 101400 29072 300179 602482 153400 83461 110100 618005 133780 253000 190685 231005 601885 230650 253010 610199 614619 615510 185300 252500 252600 252605 2078 618031 105120 616943 615516 176270 1422 617537 36426 300915 607014 1065 206700 610356 618109 2322 217300 617296 609460 617284 136120 245900 601559 601813 167 214500 459056 616680 2505 616734 618283 156200 308205 79432 252650 103500 79478 252150 234050 112250 79476 79280 614753 122470 148200 610205 256800 203200 105250 618067 148820 193500 136520 148190 194072 85167 280651 614613 202370 121850 180500 137600 226670 225400 301220 90342 278750 616488 101800 617157 613517 201000 79477 611038 180200 268400 263650 1824 600920 100050 615761 249420 2095 37 616721 79435 606574 217700 97229 242900 610733 611584 613266 270420 612783 461 308100 248000 602342 188400 260660 618223 2896 610954 108985 617272 607541 608471 122200 617251 268130 613550 1896 604292 313400 253250 614594 616188 156610 79434 203100 79433 105830 2707 244450 616279 276880 263700 617802 148300 616708 906 278700 278720 617023 604393 2067 230740 608233 617050 261584 615434 616562 611391 614171 617547 605387 130050 399058 610425 411629 219750 219900 219800 614076 895 602772 600886 79277 602540 300814 300500 79242 203300 614073 614074 614075 3071 116800 270450 180105 613581 117300 2884 172800 352723 103470 193510 259600 256810 101000 302200 258870 300424 67036 894 97231 615233 617304 607812 208050 608890 163746 609136 616200 276600 285 600132 79431 116300 259050 616469 144010 412 314652 602668 779 143890 740 275400 616260 133020 50814 168569 615277
 

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