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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Aplasia/Hypoplasia affecting the eye (HP:0008056)help
Term ID: 8056
Name: Aplasia/Hypoplasia affecting the eye
Synonym: Absent/small eye; Absent/underdeveloped eye
Definition:
Comments:
Reference: HP:0008056
Genes and Diseases:
 
       Child Nodes:
........expandAnophthalmia (HP:0000528) help
................... HP:0011478 True anophthalmia
........expandMicrophthalmia (HP:0000568) help
................... HP:0007633 Bilateral microphthalmos
................... HP:0011480 Unilateral microphthalmos
........expandAplasia/Hypoplasia affecting the uvea (HP:0008055) help
................... HP:0007774 Hypoplasia of the ciliary body
................... HP:0008053 Aplasia/Hypoplasia of the iris
........expandAplasia/Hypoplasia affecting the fundus (HP:0008057) help
................... HP:0008058 Aplasia/Hypoplasia of the optic nerve
................... HP:0008061 Aplasia/Hypoplasia of the retina
........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

 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 location (HP:0100886) help
..expandAbnormality of globe size (HP:0100887) help
..expandAbnormality of the vasculature of the eye (HP:0008047) 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:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0DHCR7 CL E G H1717818ORPHA02183762860602858
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0HSPG2 CL E G H3339800ORPHA0678625273142461
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RMRP CL E G H6023175ORPHA012341110031157660
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TBCE CL E G H69052323Triple-Negative Breast Cancer FindingC2348819ORPHA0816111582604934
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye1DHCR7 CL E G H1717818ORPHA02183762860602858
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye1HSPG2 CL E G H3339800ORPHA0678625273142461
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye1RMRP CL E G H6023175ORPHA012341110031157660
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye1TBCE CL E G H69052323Triple-Negative Breast Cancer FindingC2348819ORPHA0816111582604934
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye2DHCR7 CL E G H1717818ORPHA02183762860602858
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye2HSPG2 CL E G H3339800ORPHA0678625273142461
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye2RMRP CL E G H6023175ORPHA012341110031157660
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye2TBCE CL E G H69052323Triple-Negative Breast Cancer FindingC2348819ORPHA0816111582604934
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye3DHCR7 CL E G H1717818ORPHA02183762860602858
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye3HSPG2 CL E G H3339800ORPHA0678625273142461
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye3RMRP CL E G H6023175ORPHA012341110031157660
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye3TBCE CL E G H69052323Triple-Negative Breast Cancer FindingC2348819ORPHA0816111582604934
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye4DHCR7 CL E G H1717818ORPHA02183762860602858
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye4HSPG2 CL E G H3339800ORPHA0678625273142461
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye4RMRP CL E G H6023175ORPHA012341110031157660
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye4TBCE CL E G H69052323Triple-Negative Breast Cancer FindingC2348819ORPHA0816111582604934
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye5DHCR7 CL E G H1717818ORPHA02183762860602858
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye5HSPG2 CL E G H3339800ORPHA0678625273142461
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye5RMRP CL E G H6023175ORPHA012341110031157660
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye5TBCE CL E G H69052323Triple-Negative Breast Cancer FindingC2348819ORPHA0816111582604934


Genes (356) :ABCA4 ABCB6 ACTB ACTG1 ADAMTS10 ADAMTSL1 ALDH1A3 ALDH6A1 ALX1 ALX3 ALX4 ANKRD11 AP3D1 APC ARHGAP31 ARNT2 ARVCF ASPH ATAD3A ATF6 ATOH7 B3GALNT2 B4GAT1 B9D1 B9D2 BAZ1B BCOR BDNF BEST1 BLOC1S3 BMP4 BRCA1 BRCA2 BRIP1 BTRC BUB1 BUB1B BUB3 C12ORF57 C8ORF37 CABP4 CACNA1F CACNA2D4 CASK CC2D2A CDON CENPF CEP120 CEP290 CEP55 CEP57 CHD7 CHN1 CLIP2 CNGA3 CNGB3 COL18A1 COL25A1 COL4A1 COMT COX7B CPAMD8 CPLX1 CRPPA CRYAA CSPP1 CTBP1 CTDP1 DACT1 DAG1 DDHD2 DHCR7 DIS3L2 DLL4 DLX5 DLX6 DNMT3A DOCK6 DONSON DPYD EBP ELN ELOVL4 EOGT EPS15L1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERF ESCO2 FAM111A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FGF3 FGFR1 FGFRL1 FH FIG4 FKRP FKTN FOXC1 FOXE3 FOXL2 FRAS1 FREM1 FREM2 GDF3 GDF6 GJA1 GLI2 GLI3 GNAT1 GNAT2 GNB3 GP1BB GPC3 GPR143 GPR161 GPR179 GRIA4 GRIP1 GRK1 GRM6 GTF2I GTF2IRD1 H19 HCCS HDAC6 HESX1 HHAT HIRA HMGB3 HMX1 HNRNPU HPS4 HPS5 HPS6 HRAS HSPG2 HYLS1 IGF1R IKBKG INTU ITPR1 JMJD1C KIF11 KIF14 KIF1B KIF7 KRAS LAMB2 LARGE1 LETM1 LHX3 LHX4 LIMK1 LMX1B LRIT3 LRP2 LRP5 LTBP2 LYST MAB21L2 MAD2L2 MAF MAFB MAP2K2 MAPRE2 MAX MBTPS2 MDH2 MEF2C MFRP MIR184 MITF MKS1 MPDZ MPLKIP MYO5A NAA10 NDP NDUFB11 NHS NOTCH1 NRAS NSD2 NYX OCA2 OCRL OSGEP OTX2 PALB2 PAX2 PAX3 PAX6 PDE6B PDE6C PDE6D PDE6H PEX7 PHGDH PHYH PIEZO2 PIGN PIK3CA PIK3R1 PITX2 PITX3 PLK4 POLR1C POLR1D POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN POU1F1 POU6F2 PPP1CB PQBP1 PROKR2 PROM1 PROP1 PRPH2 PRSS56 PTCH1 PTCH2 PTF1A PUF60 PXDN RAB18 RAB3GAP1 RAB3GAP2 RAD51 RAD51C RARB RAX RB1 RBBP8 RBP4 RBPJ RECQL4 RERE REST RET RFC2 RFWD3 RHO RIPK4 RMRP RNF113A RNF135 ROBO1 RPGR RPGRIP1 RPGRIP1L RREB1 RSPO2 RXYLT1 SAG SALL1 SALL4 SCN8A SDHA SDHAF2 SDHB SDHC SDHD SEC24C SEM1 SEMA3E SH2B1 SHH SIN3A SIX3 SIX6 SLC24A1 SLC24A5 SLC25A24 SLC38A8 SLC45A2 SLX4 SMAD4 SMCHD1 SMG9 SMO SMOC1 SNAP29 SON SOX10 SOX2 SOX3 STIM1 STRA6 SUFU SYCE1 TBC1D20 TBCE TBL1XR1 TBL2 TBR1 TBX1 TBX15 TCOF1 TCTN2 TENM3 TFAP2A TMEM107 TMEM127 TMEM216 TMEM231 TMEM237 TMEM67 TMEM98 TP63 TRIM28 TRIM44 TRIP13 TRIT1 TRPM1 TUBA8 TUBB TUBB3 TUBGCP4 TUBGCP6 TYR UBE2T UFD1 VAC14 VAX1 VHL VPS13B VSX2 WDPCP WDR11 WDR73 WHCR WNT10B WNT3 WT1 XRCC2 XYLT2 YAP1

Diseases (316) :818 800 175 2323 614497 243310 614583 615113 614105 306542 613456 391474 136760 228390 100300 974 567 601552 221900 899 615181 564 568 2712 309800 300166 193220 139471 607932 84 617883 609054 1052 1777 243605 616300 611134 138 214800 607595 2556 309801 614643 604219 615636 48431 857 616538 614219 251230 274270 35173 302960 1466 610756 601675 278730 610651 616570 278780 214150 133540 3103 268300 602361 127000 227650 3412 227645 227646 600901 614082 609053 614083 2791 613001 2117 613153 236670 253800 83461 610256 110100 2052 219000 2717 248450 613704 613094 164200 257850 610829 672 146510 163966 300863 300915 612109 2612 2189 236680 464 308300 617925 2526 152950 617914 2788 259770 615877 2505 616734 85284 35612 611040 609549 617306 249000 234050 649 310600 305390 627 302350 534 309000 617729 610125 120330 120200 615665 773 256520 248700 2059 602501 610623 616171 861 253280 614830 615249 613150 2092 305600 309500 613517 77301 109400 269400 2510 614222 600118 614225 2470 615524 611038 1587 606744 616428 268400 616975 263650 611561 3301 959 607323 261197 611638 147250 94065 613406 157170 212550 206900 612289 609218 139210 603457 2250 616920 1553 601707 1106 206920 77298 601186 616947 615663 602342 1617 260660 613885 615145 113620 608091 603194 614424 615972 615771 156610 616335 251270 614402 193 610093 610092 251300 273395 85194 120433 1473 904 893 610758 93325 3472 782 88632 613703 609049 190 137902 610828 508488 154500 827 277600 261250 284804 261584 496790 654 2440 215 163937 300749 233 617319 320380 615033 615879 600775 154700 608328 29072 250923 602482 617864 182230 1422 238769 1065 206700 161200 222448 251750 614819 615280 228384 614303 33445 106210 165550 194072 3163 180500 617506 65288 609069 300953 137634 614306 370097 609528 500150 611584 612783 617873 613180 300570 521445 3157 95496 267750 194190 601631 95494 226307 614075 270450 214500 610202 193510 615219 193500 269880 137600 606574 49382 616517 614077 617406 178333 300600 54 614073 614074 103470 203200 136520 113750 79435 79434 79431 203100
 

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