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
Abnormal cornea morphology (HP:0000481)help
Term ID: 481
Name: Abnormal cornea morphology
Synonym: Abnormality of the cornea; Corneal abnormalities; Corneal abnormality; Cornela disease
Definition: Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.
Comments:
Reference: HP:0000481
Genes and Diseases:
 
       Child Nodes:
........expandAbnormality of corneal size (HP:0001120) help
................... HP:0000482 Microcornea
................... HP:0000485 Megalocornea
................... HP:0009915 Corneal asymmetry
........expandCorneal dystrophy (HP:0001131) help
................... HP:0001149 Lattice corneal dystrophy
................... HP:0007709 Band-shaped corneal dystrophy
................... HP:0007802 Granular corneal dystrophy
................... HP:0007809 Punctate corneal dystrophy
................... HP:0007836 Mosaic corneal dystrophy
................... HP:0007880 Marginal corneal dystrophy
................... HP:0007962 Speckled corneal dystrophy
................... HP:0008005 Congenital corneal dystrophy
........expandEpibulbar dermoid (HP:0001140) help
........expandCorneal degeneration (HP:0007705) help
................... HP:0200066 Ribbonlike corneal degeneration
........expandCorneal opacity (HP:0007957) help
................... HP:0000559 Corneal scarring
................... HP:0000647 Sclerocornea
................... HP:0007727 Opacification of the corneal epithelium
................... HP:0007759 Opacification of the corneal stroma
................... HP:0200032 Kayser-Fleischer ring
........expandDecreased corneal reflex (HP:0008000) help
........expandAbnormality of the line of Schwalbe (HP:0008048) help
................... HP:0000627 Posterior embryotoxon
................... HP:0007873 Abnormally prominent line of Schwalbe
........expandAbnormality of corneal thickness (HP:0011486) help
................... HP:0011487 Increased corneal thickness
................... HP:0100689 Decreased corneal thickness
........expandAbnormality of corneal endothelium (HP:0011488) help
................... HP:0011489 Abnormal migration of corneal endothelium
................... HP:0011490 Abnormality of Descemet's membrane
................... HP:0011491 Reduced number of corneal endothelial cells
................... HP:0025341 Corneal keratic precipitates
........expandAbnormality of corneal stroma (HP:0011492) help
................... HP:0007759 Opacification of the corneal stroma
................... HP:0010726 Prominent corneal nerve fibers
................... HP:0012040 Corneal stromal edema
........expandAbnormality of corneal epithelium (HP:0011495) help
................... HP:0000491 Keratitis
................... HP:0012804 Corneal ulceration
................... HP:0200020 Corneal erosion
........expandCorneal neovascularization (HP:0011496) help
........expandDecreased corneal sensation (HP:0012155) help
........expandAbnormality of the corneal limbus (HP:0025348) help
................... HP:0025349 Limbal edema
........expandAbnormality of corneal shape (HP:0040004) help
........expandCorneal perforation (HP:0100583) help
........expandAbnormality of the curvature of the cornea (HP:0100691) help
................... HP:0000483 Astigmatism
................... HP:0007720 Flat cornea
................... HP:0100692 Increased corneal curvature
........expandCornea verticillata (HP:0500008) help

 Sister Nodes: 
..expandAbnormal anterior chamber morphology (HP:0000593) help
..expandAbnormal suspensory ligament of lens morphology (HP:0012628) help
..expandAbnormality iris morphology (HP:0000525) help
..expandAbnormality of the lens (HP:0000517) 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:
HP:0000481HP:0000481Abnormal cornea morphology0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0000481HP:0000481Abnormal cornea morphology0DNAI1 CL E G H27019244400Kartagener syndrome244400C0022521OMIM1382832954604366
HP:0000481HP:0000481Abnormal cornea morphology0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0000481HP:0000481Abnormal cornea morphology0MEGF8 CL E G H195465759ORPHA1192253233604267
HP:0000481HP:0000481Abnormal cornea morphology0PITX2 CL E G H5308180550Ring dermoid of cornea180550C1867155OMIM11041369005601542
HP:0000481HP:0000481Abnormal cornea morphology0RAB23 CL E G H5171565759ORPHA11510514263606144
HP:0000481HP:0000481Abnormal cornea morphology1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0000481HP:0000481Abnormal cornea morphology1DNAI1 CL E G H27019244400Kartagener syndrome244400C0022521OMIM1382832954604366
HP:0000481HP:0000481Abnormal cornea morphology1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0000481HP:0000481Abnormal cornea morphology1MEGF8 CL E G H195465759ORPHA1192253233604267
HP:0000481HP:0000481Abnormal cornea morphology1PITX2 CL E G H5308180550Ring dermoid of cornea180550C1867155OMIM11041369005601542
HP:0000481HP:0000481Abnormal cornea morphology1RAB23 CL E G H5171565759ORPHA11510514263606144
HP:0000481HP:0000481Abnormal cornea morphology2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0000481HP:0000481Abnormal cornea morphology2DNAI1 CL E G H27019244400Kartagener syndrome244400C0022521OMIM1382832954604366
HP:0000481HP:0000481Abnormal cornea morphology2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0000481HP:0000481Abnormal cornea morphology2MEGF8 CL E G H195465759ORPHA1192253233604267
HP:0000481HP:0000481Abnormal cornea morphology2PITX2 CL E G H5308180550Ring dermoid of cornea180550C1867155OMIM11041369005601542
HP:0000481HP:0000481Abnormal cornea morphology2RAB23 CL E G H5171565759ORPHA11510514263606144
HP:0000481HP:0000481Abnormal cornea morphology3CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0000481HP:0000481Abnormal cornea morphology3DNAI1 CL E G H27019244400Kartagener syndrome244400C0022521OMIM1382832954604366
HP:0000481HP:0000481Abnormal cornea morphology3EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0000481HP:0000481Abnormal cornea morphology3MEGF8 CL E G H195465759ORPHA1192253233604267
HP:0000481HP:0000481Abnormal cornea morphology3PITX2 CL E G H5308180550Ring dermoid of cornea180550C1867155OMIM11041369005601542
HP:0000481HP:0000481Abnormal cornea morphology3RAB23 CL E G H5171565759ORPHA11510514263606144
HP:0000481HP:0000481Abnormal cornea morphology4CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0000481HP:0000481Abnormal cornea morphology4DNAI1 CL E G H27019244400Kartagener syndrome244400C0022521OMIM1382832954604366
HP:0000481HP:0000481Abnormal cornea morphology4EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0000481HP:0000481Abnormal cornea morphology4MEGF8 CL E G H195465759ORPHA1192253233604267
HP:0000481HP:0000481Abnormal cornea morphology4PITX2 CL E G H5308180550Ring dermoid of cornea180550C1867155OMIM11041369005601542
HP:0000481HP:0000481Abnormal cornea morphology4RAB23 CL E G H5171565759ORPHA11510514263606144
HP:0000481HP:0000481Abnormal cornea morphology5CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0000481HP:0000481Abnormal cornea morphology5DNAI1 CL E G H27019244400Kartagener syndrome244400C0022521OMIM1382832954604366
HP:0000481HP:0000481Abnormal cornea morphology5EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0000481HP:0000481Abnormal cornea morphology5MEGF8 CL E G H195465759ORPHA1192253233604267
HP:0000481HP:0000481Abnormal cornea morphology5PITX2 CL E G H5308180550Ring dermoid of cornea180550C1867155OMIM11041369005601542
HP:0000481HP:0000481Abnormal cornea morphology5RAB23 CL E G H5171565759ORPHA11510514263606144
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (541) :ABCA1 ABCA12 ABCA4 ACTB ACTG1 ADAMTS18 AGBL1 AGBL5 AGK AHI1 AHR AIPL1 AIRE AKT1 ALDH18A1 ALDH3A2 ALOX12B ALOXE3 ANK1 ANKRD11 ANTXR1 AP3D1 APOA1 APOB APOE ARCN1 ARHGEF18 ARHGEF2 ARID1B ARL2BP ARL3 ARL6 ARSB ARSG ARVCF ASAH1 ATAD3A ATOH7 ATP7B B2M B3GALNT2 B3GLCT B4GAT1 B9D1 B9D2 BAZ1B BBS1 BBS2 BCOR BEST1 BLOC1S3 BMP4 BRCA1 BRCA2 BRIP1 BTD BTNL2 BUB1 BUB1B BUB3 C1QBP C4A C8ORF37 CA4 CACNA1F CC2D2A CCR1 CDH11 CDHR1 CENPF CEP290 CEP55 CEP57 CEP78 CERKL CERS3 CHD3 CHD4 CHMP1A CHN1 CHRDL1 CHST14 CHST6 CLDN16 CLDN19 CLIP2 CLRN1 CNGA1 CNGB1 COL11A1 COL17A1 COL18A1 COL1A1 COL25A1 COL3A1 COL4A1 COL4A3 COL4A4 COL4A5 COL5A1 COL5A2 COL7A1 COL8A2 COL9A1 COL9A2 COL9A3 COMT COX7B CRB1 CREBBP CRLF1 CRPPA CRX CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CTDP1 CTNS CTSA CYP1B1 CYP4V2 DACT1 DAG1 DCN DDB2 DEAF1 DGCR2 DGCR6 DGCR8 DHCR7 DHDDS DHX38 DNAI1 DNAJC21 DPYD DST EBF3 EBP ELN ELP1 EMC1 EP300 ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 ESS2 EXOSC2 EYS FAM161A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FBN1 FERMT1 FGD1 FGF10 FGF3 FGFR1 FGFR2 FGFR3 FIG4 FKBP14 FKRP FKTN FLI1 FLII FLNB FOXC1 FOXC2 FOXE3 FOXL2 FRAS1 FSCN2 FUCA1 GALNS GATA1 GBA GDF6 GJA1 GJA8 GJB2 GJB3 GJB4 GJB6 GLA GLB1 GLRB GNAQ GNAS GNPTAB GNPTG GORAB GP1BB GPR143 GSN GTF2E2 GTF2I GTF2IRD1 GUCA1B GUCY2D GUSB HARS HCCS HDAC8 HGSNAT HIRA HIST1H1E HLA-B HLA-DRB1 HLCS HMGB3 HMX1 HRAS HSPG2 IDH3B IDUA IFT140 IFT172 IFT88 IKBKG IKZF1 IL10 IL12A IL12A-AS1 IL23R IMPDH1 IMPG2 IQCB1 IQSEC2 JAG1 JMJD1C KCNJ13 KCNV2 KDM5B KDM6A KDSR KERA KIAA1549 KIDINS220 KIF11 KIF1A KIF1BP KIZ KLHL7 KLRC4 KMT2A KMT2B KMT2D KRAS KRT12 KRT16 KRT17 KRT3 KRT6A KRT6B LARGE1 LBR LCA5 LCAT LDLR LETM1 LIFR LIMK1 LMNA LMX1B LRAT LRP5 LTBP2 MAB21L2 MAD2L2 MAF MAFB MAG MAK MAPRE2 MARK3 MBD5 MBTPS2 MCOLN1 MED25 MEFV MEGF8 MERTK MIR184 MKS1 MMP1 MMP14 MMP2 MPLKIP MPV17 NAA10 NAGA NDP NDUFB11 NEK2 NELFA NEU1 NF2 NFIX NGLY1 NHS NIPAL4 NIPBL NLRP1 NLRP3 NMNAT1 NOD2 NOTCH2 NR2E3 NRAS NRL NSD2 NTRK1 OCLN OCRL OFD1 OPN1LW OPN1MW OSMR OTX2 OVOL2 PACS2 PALB2 PAX6 PCARE PCYT1A PDE6A PDE6B PDE6G PDGFB PDGFRB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIEZO2 PIGL PIGN PIK3R1 PIKFYVE PITX2 PITX3 PLCG2 PLEC PLG PLK4 PLOD1 PLXND1 PNPLA1 POGZ POLA1 POLH POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN PRCD PRDM12 PRDM5 PRMT7 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRSS56 PTEN PXDN PYCR1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAD21 RAD51 RAD51C RAI1 RAP1A RAP1B RAX RBP3 RBP4 RD3 RDH12 RECQL4 REEP6 RETREG1 REV3L RFC2 RFWD3 RGR RHO RIPK4 RLBP1 RNF125 RNU4ATAC ROM1 RP1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RREB1 RSPO2 RXYLT1 SAG SALL1 SALL4 SC5D SCAPER SCARF2 SCN9A SEC24C SEMA4A SERPING1 SETD5 SLC16A12 SLC20A2 SLC25A24 SLC25A4 SLC29A3 SLC2A10 SLC38A8 SLC39A4 SLC39A8 SLC4A11 SLC4A4 SLC7A14 SLX4 SMARCAL1 SMC1A SMC3 SMCHD1 SNRNP200 SOX2 SPATA7 SPINT2 ST14 STAT4 STS SUMF1 TACSTD2 TAT TBC1D20 TBC1D7 TBCE TBL1XR1 TBL2 TBX1 TBX15 TBX22 TCF4 TCTN2 TEAD1 TEK TENM3 TFAP2A TGFBI TGM1 TINF2 TLR4 TMEM107 TMEM216 TMEM231 TMEM67 TNXB TOPORS TP63 TRAPPC2 TRIM37 TRIP13 TRNS2 TRPV3 TTC8 TUB TUBB TULP1 TWIST2 TYR UBAC2 UBE2T UBE3B UBIAD1 UFD1 UROS USH2A USP9X VAC14 VARS VSX1 WAC WAS WDPCP WDR73 WIPF1 WNK1 WNT3 WT1 XPA XPC XPR1 XRCC2 YAP1 ZEB1 ZFHX2 ZMPSTE24 ZNF408 ZNF469 ZNF513

Diseases (423) :180849 244400 65759 180550 31150 425 615523 1369 176920 616603 567 333 496790 221900 899 709 904 1052 217800 90654 287 607595 136800 609140 1377 351 617315 857 1764 223900 278730 617763 2908 149730 2396 613001 613153 236670 150250 88632 219000 349 317 477 148210 301500 324 3205 576 584 253220 163200 93474 93473 93476 607015 607016 464 152950 201300 3339 122100 2309 79292 3206 2788 613086 2273 308800 578 277950 812 637 615273 617388 615225 534 16 137902 120200 604229 1980 912 3474 2059 3163 1900 570 2092 90354 2969 1234 1490 217400 613268 603457 602400 281090 585 272200 204870 28378 2323 121820 608470 602082 920 121800 614195 1473 613270 609141 147430 205400 79394 2995 615458 3453 816 270200 251066 261250 284804 617164 617523 135900 253200 231183 905 277900 615287 564 209900 568 2712 309800 300166 193220 614077 139471 607932 84 617713 178333 300476 300600 612285 211380 243605 618205 617159 614961 233 309300 249300 601776 248250 248190 250984 228520 122400 203780 301050 79408 79409 231568 89842 226600 614134 2556 309801 272430 604219 611544 604307 48431 604168 256540 210370 610048 910 278740 819 192430 818 617052 293948 614653 617330 35173 616875 601675 278760 133540 278800 216400 268300 3412 609053 284979 173650 915 2791 313855 87 123500 3472 216340 300179 2308 601631 782 602482 33001 153400 83461 610256 110100 253000 231005 2710 164200 257850 116200 230650 253010 614619 252500 252600 252605 2078 54 105120 616943 199 617537 36426 300915 612109 800 255800 607014 308300 118450 610356 618109 2322 217300 617296 609460 617284 136120 245900 280 601559 161200 251750 615877 610202 459056 616680 2505 616734 618283 156200 308205 252650 616449 614303 234050 79280 649 310600 614753 627 302350 122470 148200 90340 610205 256800 251290 105250 610125 618067 106210 148190 85167 214100 614866 214110 108145 269880 121850 180500 107250 614878 226670 616171 225400 616364 301220 90342 278750 253280 616488 614170 617157 613517 269400 2510 614222 201000 600118 614225 611038 615147 268400 263650 1824 3301 959 46059 607330 600920 100050 615761 612018 2095 609218 37 616721 217700 242900 77298 270420 461 308100 615663 248000 602342 188400 260660 921 2896 610954 108985 617272 615145 1297 607541 121900 608471 122200 268130 1896 313400 253250 614594 616188 156610 203100 2707 244450 263700 300968 617802 148300 616708 906 251300 278700 278720 229200 791 617023 65 604393 240300 2067 230740 79241 130050 286 613835 613829 411629 219750 219900 219800 708 79277 602540 300814 204000 79242 3071 259600 256810 122000 97231 204100 613826 3342 208050 276600 285 219150 144010 412 314652 797 117 267750 79443 779 143890 740 186580 616260 133020 168569 604278
 

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