Human Phenotype Ontology 
Grandparent Node:
expand
obsolete Abnormal globe morphology (HP:0012374)help
Parent Node:
expand
Abnormal anterior eye segment morphology (HP:0004328)help
Parent Node:
expand
Abnormal uvea morphology (HP:0000553)help
..Starting node
..expand
Abnormality iris morphology (HP:0000525)help
Term ID: 525
Name: Abnormality iris morphology
Synonym: Abnormality of the iris
Definition: An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil.
Comments:
Reference: HP:0000525
Genes and Diseases:
 
       Child Nodes:
........expandIris coloboma (HP:0000612) help
........expandAbnormal pupil morphology (HP:0000615) help
................... HP:0000555 Leukocoria
................... HP:0009916 Anisocoria
................... HP:0009917 Persistent pupillary membrane
................... HP:0009918 Ectopia pupillae
................... HP:0011500 Polycoria
................... HP:0025309 Abnormal pupil shape
................... HP:0025492 Microcoria
........expandIris atrophy (HP:0001089) help
........expandIritis (HP:0001101) help
........expandAbnormal iris vasculature (HP:0007905) help
................... HP:0011497 Iris neovascularization
................... HP:0012635 Iris hypoperfusion
................... HP:0025319 Rubeosis iridis
........expandAbnormal iris pigmentation (HP:0008034) help
................... HP:0000635 Blue irides
................... HP:0001088 Brushfield spots
................... HP:0007730 Iris hypopigmentation
................... HP:0012634 Iris pigment dispersion
................... HP:0012775 Stellate iris
................... HP:0012805 Iris transillumination defect
................... HP:0200064 Asymmetry of iris pigmentation
........expandAplasia/Hypoplasia of the iris (HP:0008053) help
................... HP:0000526 Aniridia
................... HP:0007676 Hypoplasia of the iris
........expandLisch nodules (HP:0009737) help
........expandIris cyst (HP:0011523) help
........expandIris melanoma (HP:0011524) help
........expandIris nevus (HP:0011525) help
........expandUveal ectropion (HP:0025358) help
........expandIridodonesis (HP:0100693) help
........expandIris flocculi (HP:0500007) help

 Sister Nodes: 
..expandAbnormal choroid morphology (HP:0000610) help
..expandAbnormal ciliary body morphology (HP:0012776) help
..expandAplasia/Hypoplasia affecting the uvea (HP:0008055) help
..expandUveitis (HP:0000554) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000525HP:0000525Abnormality iris morphology0ACTA2 CL E G H5991387ORPHA183290130102620
HP:0000525HP:0000525Abnormality iris morphology0ELN CL E G H200691387ORPHA11275233327130160
HP:0000525HP:0000525Abnormality iris morphology0FBN1 CL E G H220091387ORPHA1272142843603134797
HP:0000525HP:0000525Abnormality iris morphology0FOXE3 CL E G H230191387ORPHA131863808601094
HP:0000525HP:0000525Abnormality iris morphology0LOX CL E G H401591387ORPHA19676664153455
HP:0000525HP:0000525Abnormality iris morphology0MAT2A CL E G H414491387ORPHA12846904601468
HP:0000525HP:0000525Abnormality iris morphology0MFAP5 CL E G H807691387ORPHA138229673601103
HP:0000525HP:0000525Abnormality iris morphology0MYH11 CL E G H462991387ORPHA16919907569160745
HP:0000525HP:0000525Abnormality iris morphology0MYLK CL E G H463891387ORPHA1438927590600922
HP:0000525HP:0000525Abnormality iris morphology0PRKG1 CL E G H559291387ORPHA162739414176894
HP:0000525HP:0000525Abnormality iris morphology0SMAD3 CL E G H408891387ORPHA1955926769603109
HP:0000525HP:0000525Abnormality iris morphology0TBR1 CL E G H107161617ORPHA1187811590604616
HP:0000525HP:0000525Abnormality iris morphology0TGFB2 CL E G H704291387ORPHA14334111768190220
HP:0000525HP:0000525Abnormality iris morphology0TGFB3 CL E G H704391387ORPHA13425311769190230
HP:0000525HP:0000525Abnormality iris morphology0TGFBR1 CL E G H704691387ORPHA17954111772190181
HP:0000525HP:0000525Abnormality iris morphology0TGFBR2 CL E G H704891387ORPHA114857211773190182
HP:0000525HP:0000525Abnormality iris morphology1ACTA2 CL E G H5991387ORPHA183290130102620
HP:0000525HP:0000525Abnormality iris morphology1ELN CL E G H200691387ORPHA11275233327130160
HP:0000525HP:0000525Abnormality iris morphology1FBN1 CL E G H220091387ORPHA1272142843603134797
HP:0000525HP:0000525Abnormality iris morphology1FOXE3 CL E G H230191387ORPHA131863808601094
HP:0000525HP:0000525Abnormality iris morphology1LOX CL E G H401591387ORPHA19676664153455
HP:0000525HP:0000525Abnormality iris morphology1MAT2A CL E G H414491387ORPHA12846904601468
HP:0000525HP:0000525Abnormality iris morphology1MFAP5 CL E G H807691387ORPHA138229673601103
HP:0000525HP:0000525Abnormality iris morphology1MYH11 CL E G H462991387ORPHA16919907569160745
HP:0000525HP:0000525Abnormality iris morphology1MYLK CL E G H463891387ORPHA1438927590600922
HP:0000525HP:0000525Abnormality iris morphology1PRKG1 CL E G H559291387ORPHA162739414176894
HP:0000525HP:0000525Abnormality iris morphology1SMAD3 CL E G H408891387ORPHA1955926769603109
HP:0000525HP:0000525Abnormality iris morphology1TBR1 CL E G H107161617ORPHA1187811590604616
HP:0000525HP:0000525Abnormality iris morphology1TGFB2 CL E G H704291387ORPHA14334111768190220
HP:0000525HP:0000525Abnormality iris morphology1TGFB3 CL E G H704391387ORPHA13425311769190230
HP:0000525HP:0000525Abnormality iris morphology1TGFBR1 CL E G H704691387ORPHA17954111772190181
HP:0000525HP:0000525Abnormality iris morphology1TGFBR2 CL E G H704891387ORPHA114857211773190182
HP:0000525HP:0000525Abnormality iris morphology2ACTA2 CL E G H5991387ORPHA183290130102620
HP:0000525HP:0000525Abnormality iris morphology2ELN CL E G H200691387ORPHA11275233327130160
HP:0000525HP:0000525Abnormality iris morphology2FBN1 CL E G H220091387ORPHA1272142843603134797
HP:0000525HP:0000525Abnormality iris morphology2FOXE3 CL E G H230191387ORPHA131863808601094
HP:0000525HP:0000525Abnormality iris morphology2LOX CL E G H401591387ORPHA19676664153455
HP:0000525HP:0000525Abnormality iris morphology2MAT2A CL E G H414491387ORPHA12846904601468
HP:0000525HP:0000525Abnormality iris morphology2MFAP5 CL E G H807691387ORPHA138229673601103
HP:0000525HP:0000525Abnormality iris morphology2MYH11 CL E G H462991387ORPHA16919907569160745
HP:0000525HP:0000525Abnormality iris morphology2MYLK CL E G H463891387ORPHA1438927590600922
HP:0000525HP:0000525Abnormality iris morphology2PRKG1 CL E G H559291387ORPHA162739414176894
HP:0000525HP:0000525Abnormality iris morphology2SMAD3 CL E G H408891387ORPHA1955926769603109
HP:0000525HP:0000525Abnormality iris morphology2TBR1 CL E G H107161617ORPHA1187811590604616
HP:0000525HP:0000525Abnormality iris morphology2TGFB2 CL E G H704291387ORPHA14334111768190220
HP:0000525HP:0000525Abnormality iris morphology2TGFB3 CL E G H704391387ORPHA13425311769190230
HP:0000525HP:0000525Abnormality iris morphology2TGFBR1 CL E G H704691387ORPHA17954111772190181
HP:0000525HP:0000525Abnormality iris morphology2TGFBR2 CL E G H704891387ORPHA114857211773190182
HP:0000525HP:0000525Abnormality iris morphology3ACTA2 CL E G H5991387ORPHA183290130102620
HP:0000525HP:0000525Abnormality iris morphology3ELN CL E G H200691387ORPHA11275233327130160
HP:0000525HP:0000525Abnormality iris morphology3FBN1 CL E G H220091387ORPHA1272142843603134797
HP:0000525HP:0000525Abnormality iris morphology3FOXE3 CL E G H230191387ORPHA131863808601094
HP:0000525HP:0000525Abnormality iris morphology3LOX CL E G H401591387ORPHA19676664153455
HP:0000525HP:0000525Abnormality iris morphology3MAT2A CL E G H414491387ORPHA12846904601468
HP:0000525HP:0000525Abnormality iris morphology3MFAP5 CL E G H807691387ORPHA138229673601103
HP:0000525HP:0000525Abnormality iris morphology3MYH11 CL E G H462991387ORPHA16919907569160745
HP:0000525HP:0000525Abnormality iris morphology3MYLK CL E G H463891387ORPHA1438927590600922
HP:0000525HP:0000525Abnormality iris morphology3PRKG1 CL E G H559291387ORPHA162739414176894
HP:0000525HP:0000525Abnormality iris morphology3SMAD3 CL E G H408891387ORPHA1955926769603109
HP:0000525HP:0000525Abnormality iris morphology3TBR1 CL E G H107161617ORPHA1187811590604616
HP:0000525HP:0000525Abnormality iris morphology3TGFB2 CL E G H704291387ORPHA14334111768190220
HP:0000525HP:0000525Abnormality iris morphology3TGFB3 CL E G H704391387ORPHA13425311769190230
HP:0000525HP:0000525Abnormality iris morphology3TGFBR1 CL E G H704691387ORPHA17954111772190181
HP:0000525HP:0000525Abnormality iris morphology3TGFBR2 CL E G H704891387ORPHA114857211773190182
HP:0000525HP:0000525Abnormality iris morphology4ACTA2 CL E G H5991387ORPHA183290130102620
HP:0000525HP:0000525Abnormality iris morphology4ELN CL E G H200691387ORPHA11275233327130160
HP:0000525HP:0000525Abnormality iris morphology4FBN1 CL E G H220091387ORPHA1272142843603134797
HP:0000525HP:0000525Abnormality iris morphology4FOXE3 CL E G H230191387ORPHA131863808601094
HP:0000525HP:0000525Abnormality iris morphology4LOX CL E G H401591387ORPHA19676664153455
HP:0000525HP:0000525Abnormality iris morphology4MAT2A CL E G H414491387ORPHA12846904601468
HP:0000525HP:0000525Abnormality iris morphology4MFAP5 CL E G H807691387ORPHA138229673601103
HP:0000525HP:0000525Abnormality iris morphology4MYH11 CL E G H462991387ORPHA16919907569160745
HP:0000525HP:0000525Abnormality iris morphology4MYLK CL E G H463891387ORPHA1438927590600922
HP:0000525HP:0000525Abnormality iris morphology4PRKG1 CL E G H559291387ORPHA162739414176894
HP:0000525HP:0000525Abnormality iris morphology4SMAD3 CL E G H408891387ORPHA1955926769603109
HP:0000525HP:0000525Abnormality iris morphology4TBR1 CL E G H107161617ORPHA1187811590604616
HP:0000525HP:0000525Abnormality iris morphology4TGFB2 CL E G H704291387ORPHA14334111768190220
HP:0000525HP:0000525Abnormality iris morphology4TGFB3 CL E G H704391387ORPHA13425311769190230
HP:0000525HP:0000525Abnormality iris morphology4TGFBR1 CL E G H704691387ORPHA17954111772190181
HP:0000525HP:0000525Abnormality iris morphology4TGFBR2 CL E G H704891387ORPHA114857211773190182
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000525HP:0000525Abnormality iris morphology0GJA1 CL E G H26972710Hm syndromeORPHA01091414274121014
HP:0000525HP:0000525Abnormality iris morphology1GJA1 CL E G H26972710Hm syndromeORPHA01091414274121014
HP:0000525HP:0000525Abnormality iris morphology2GJA1 CL E G H26972710Hm syndromeORPHA01091414274121014
HP:0000525HP:0000525Abnormality iris morphology3GJA1 CL E G H26972710Hm syndromeORPHA01091414274121014
HP:0000525HP:0000525Abnormality iris morphology4GJA1 CL E G H26972710Hm syndromeORPHA01091414274121014


Genes (372) :AAAS ACTA2 ACTB ACTG1 ADAMTS17 ADAMTSL1 ADAMTSL4 ADGRV1 AHI1 AKT1 ALG2 ALG3 ALX3 AMACR ANK1 AP3B1 AP3D1 ARL13B ARL3 ARL6IP6 ARMC9 ARSG ASPA ASPH ATOH7 ATP6V1A B3GALNT2 B3GLCT B4GAT1 B9D1 B9D2 BAP1 BAZ1B BCOR BDNF BEST1 BLOC1S3 BLOC1S6 BMP4 BRCA1 BRCA2 BRIP1 BTD BTRC C12ORF57 CC2D2A CCDC22 CDH23 CDON CENPF CEP104 CEP120 CEP290 CEP41 CEP55 CEP78 CHD7 CHN1 CHRDL1 CIB2 CLIP2 CLRN1 COL25A1 COL3A1 COL4A1 COL5A1 COX7B CPAMD8 CPLANE1 CPLX1 CRPPA CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CTBP1 CYSLTR2 DACT1 DAG1 DHCR7 DIS3L2 DISP1 DLL1 DLX5 DLX6 DTNBP1 EDN3 EDNRB ELN ELP1 EPG5 EPS15L1 ERCC4 ERCC6 ERF FAM111A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FGF3 FGF8 FGFR1 FGFR2 FGFRL1 FH FKRP FKTN FLI1 FLNA FOXC1 FOXE3 FOXH1 GABRD GAS1 GATA1 GDF3 GJA1 GJA8 GLI2 GMPPA GNA11 GNAQ GPC3 GPR143 GRHL2 GTF2I GTF2IRD1 GZF1 H19 HARS HCCS HERC2 HHAT HPS1 HPS4 HPS5 HPS6 HRAS HYLS1 IGBP1 IGF1R IMPG1 IMPG2 INPP5E IPW ITPR1 KCNAB2 KCTD1 KIAA0556 KIAA0586 KIF1B KIF1BP KIT KITLG KRAS KRT25 KRT71 KRT74 LAMB2 LARGE1 LETM1 LIMK1 LIPH LMX1B LOX LPAR6 LRP2 LRP5 LTBP2 LYST MAB21L2 MAD2L2 MAF MAFB MAGEL2 MAT2A MAX MBTPS2 MC1R MDH2 MFAP5 MIR184 MITF MKRN3 MKRN3-AS1 MKS1 MLPH MLXIPL MPDZ MPZ MYH11 MYLK MYO5A MYO7A MYOC NAA10 NDN NDP NDUFB11 NELFA NF1 NOD2 NODAL NOTCH2 NOTCH3 NPAP1 NPHP1 NRAS NSD2 OCA2 OCRL OVOL2 PAH PALB2 PAX3 PAX6 PCDH15 PCYT1A PDE4D PDZD7 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHOX2B PIBF1 PIK3R1 PITX2 PITX3 PMPCA PNPLA6 POGZ POLR1C POLR1D POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN POU6F2 PRDM16 PRKAR1A PRKG1 PRPH2 PTCH1 PTCH2 PTEN PWAR1 PWRN1 RAB27A RAD51 RAD51C RB1 RBP4 RERE REST RET RFC2 RFWD3 RPGRIP1 RPGRIP1L RSPO2 RXYLT1 SALL1 SALL4 SDHA SDHAF2 SDHB SDHC SDHD SEM1 SEMA3E SF3B1 SHH SIN3A SIX3 SIX6 SKI SLC24A5 SLC45A2 SLC52A2 SLC52A3 SLX4 SMAD3 SMCHD1 SMO SNAI2 SNORD115-1 SNORD116-1 SNRPN SOS1 SOX10 SOX2 SRD5A3 STIM1 SUFU TBL2 TBR1 TBX2 TBX22 TCOF1 TCTN1 TCTN2 TDGF1 TENM3 TFAP2A TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 TINF2 TMEM107 TMEM127 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TP63 TRAPPC11 TRIM28 TRIM44 TRIP13 TRNS2 TSC1 TSC2 TYR TYRP1 UBE2T UBE3A UROC1 USH1C USH1G USH2A VHL VPS13B WASHC5 WDPCP WDR73 WHCR WHRN WNT10B WNT3 WT1 XRCC2 XYLT2 YAP1 ZEB2 ZIC2 ZNF423

Diseases (239) :91387 2710 1617 869 243310 2995 613195 220493 475 79326 601110 391474 251066 601552 221900 618012 899 709 261540 564 39044 904 568 2712 309800 893 139471 84 1777 218340 2318 1454 7 280200 243605 138 214800 233 309300 286 309801 617319 194190 1377 604219 857 818 1764 207 284979 2791 2396 147950 2308 300244 601631 782 88632 613702 3205 54 617662 2612 52055 300472 181270 66629 170 280 222448 2143 259770 251750 610202 85284 249000 615219 101082 132900 137750 190 649 193520 162210 162200 601321 186580 955 2789 220497 534 122000 137902 2151 3163 2377 616364 861 2092 305600 377 109400 610828 2969 1587 616428 615147 3301 959 607323 611638 613406 212550 370097 2250 1553 77298 612713 160565 921 615145 1297 113620 805 193 1473 235730 231550 1885 225200 231178 79095 1556 231183 314918 99000 654 79241 2440 231169 607595 613265 277580 194050 133540 602361 154700 613001 29072 250923 602482 610256 190685 257850 615510 618031 615516 176270 1422 1065 206700 609049 167 214500 615877 79432 614303 103500 79478 79476 310600 203200 261600 148820 193500 106210 194072 85167 280651 614613 912 214100 614866 214110 180500 137600 613150 101800 79477 180200 79435 606574 97229 610733 611584 613266 612783 618223 268130 613550 604292 79434 203100 79433 105830 276880 251300 85194 521445 608233 284804 617050 614077 614171 614076 895 242840 1606 300500 203300 614073 614074 614075 270450 2884 172800 352723 103470 193510 894 269880 1170 608890 163746 609136 79431 744 161200 275400
 

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