Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye morphology (HP:0012372)help
Parent Node:
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obsolete Abnormal globe morphology (HP:0012374)help
..Starting node
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Abnormal uvea morphology (HP:0000553)help
Term ID: 553
Name: Abnormal uvea morphology
Synonym: Abnormality of the uvea
Definition: An abnormality of the uvea, the vascular layer of the eyeball.
Comments:
Reference: HP:0000553
Genes and Diseases:
 
       Child Nodes:
........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
........expandUveitis (HP:0000554) help
................... HP:0007813 Nongranulomatous uveitis
................... HP:0012121 Panuveitis
................... HP:0012122 Anterior uveitis
................... HP:0012123 Posterior uveitis
................... HP:0012124 Intermediate uveitis
........expandAbnormal choroid morphology (HP:0000610) help
................... HP:0000532 Abnormal chorioretinal morphology
................... HP:0001139 Choroideremia
................... HP:0025148 Dark choroid
................... HP:0025314 Choroidal nevus
................... HP:0025568 Abnormal morphology of the choroidal vasculature
................... HP:0030952 Birdshot choroidal lesions
........expandAplasia/Hypoplasia affecting the uvea (HP:0008055) help
................... HP:0007774 Hypoplasia of the ciliary body
................... HP:0008053 Aplasia/Hypoplasia of the iris
........expandAbnormality of the ciliary body (HP:0012776) help
................... HP:0007774 Hypoplasia of the ciliary body
................... HP:0012055 Ciliary body melanoma

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


Genes (457) :AAAS ABCA4 ABCC6 ACTA2 ACTB ACTG1 ACVRL1 ADAMTS17 ADAMTS18 ADAMTSL1 ADAMTSL4 ADGRV1 AGXT AHI1 AKT1 ALG2 ALG3 ALMS1 ALX3 AMACR ANK1 ANKRD55 AP3B1 AP3D1 ARL13B ARL3 ARL6IP6 ARMC9 ARSG ASPA ASPH ATOH7 ATP6V1A B3GALNT2 B3GLCT B4GAT1 B9D1 B9D2 BAP1 BAZ1B BCL10 BCOR BDNF BEST1 BIRC3 BLOC1S3 BLOC1S6 BMP4 BRCA1 BRCA2 BRIP1 BTD BTNL2 BTRC C12ORF57 CAPN5 CASK CC2D2A CCDC22 CCM2 CD247 CDH23 CDON CENPF CEP104 CEP120 CEP290 CEP41 CEP55 CEP78 CHD7 CHM CHN1 CHRDL1 CIB2 CLCN2 CLCNKB CLDN19 CLIP2 CLRN1 CNGB3 COL25A1 COL3A1 COL4A1 COL5A1 COX7B CPAMD8 CPLANE1 CPLX1 CRB1 CREBBP CRPPA CRX CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CTBP1 CYP4V2 CYSLTR2 DACT1 DAG1 DHCR7 DIS3L2 DISP1 DLL1 DLX5 DLX6 DNASE1L3 DPP6 DTNBP1 EDN3 EDNRB ELN ELOVL4 ELP1 EP300 EPG5 EPHA2 EPS15L1 ERCC4 ERCC6 ERF EYS FAM111A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBLN5 FBN1 FBN2 FGF3 FGF8 FGFR1 FGFR2 FGFRL1 FH FKRP FKTN FLI1 FLNA FOXC1 FOXE3 FOXH1 FOXP1 FSCN2 GABRD GAS1 GATA1 GDF3 GJA1 GJA8 GLI2 GMPPA GNA11 GNAQ GPC3 GPR143 GPR35 GRHL2 GTF2I GTF2IRD1 GUCY2D GZF1 H19 HADHA HARS HCCS HERC2 HHAT HLA-A HLA-DRB1 HPS1 HPS4 HPS5 HPS6 HRAS HYLS1 IGBP1 IGF1R IGH IKBKG IL2RA IL2RB IL6 IMPG1 IMPG2 INPP5E IPW ITPR1 JAG1 KCNAB2 KCTD1 KIAA0556 KIAA0586 KIF11 KIF1B KIF1BP KIT KITLG KRAS KRIT1 KRT25 KRT71 KRT74 LACC1 LAMB2 LARGE1 LETM1 LIMK1 LIPH LMX1B LOX LPAR6 LRP2 LRP5 LTBP2 LYST MAB21L2 MAD2L2 MAF MAFB MAGEL2 MALT1 MAPKAPK3 MAT2A MAX MBTPS2 MC1R MDH2 MFAP5 MFRP MIF MIR184 MITF MKRN3 MKRN3-AS1 MKS1 MLPH MLXIPL MPDZ MPZ MST1 MYH11 MYLK MYO5A MYO7A MYOC NAA10 NDN NDP NDUFB11 NELFA NF1 NLRC4 NLRP1 NLRP3 NOD2 NODAL NOTCH2 NOTCH3 NPAP1 NPHP1 NRAS NRL NSD2 OAT OCA2 OCRL OVOL2 PAH PALB2 PAX2 PAX3 PAX6 PCDH15 PCYT1A PDCD10 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 POU3F4 POU6F2 PRDM16 PRKAR1A PRKG1 PROM1 PRPH2 PRSS56 PTCH1 PTCH2 PTEN PTPN2 PTPN22 PWAR1 PWRN1 RAB27A RAD51 RAD51C RB1 RBP4 RERE REST RET RFC2 RFWD3 RNF216 ROM1 RP2 RPGRIP1 RPGRIP1L RSPO2 RXYLT1 SAG SALL1 SALL4 SDHA SDHAF2 SDHB SDHC SDHD SEM1 SEMA3E SF3B1 SHH SIN3A SIX3 SIX6 SKI SLC24A5 SLC25A15 SLC45A2 SLC52A2 SLC52A3 SLX4 SMAD3 SMCHD1 SMO SNAI2 SNORD115-1 SNORD116-1 SNRPN SOS1 SOX10 SOX2 SRD5A3 STAT4 STIM1 STUB1 SUFU TBL2 TBR1 TBX2 TBX22 TCF4 TCOF1 TCTN1 TCTN2 TDGF1 TEAD1 TENM3 TFAP2A TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 TINF2 TKT TMEM107 TMEM127 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TMEM98 TNFAIP3 TNFRSF1A TP63 TRAPPC11 TRIM28 TRIM44 TRIP13 TRNE TRNK TRNL1 TRNS2 TSC1 TSC2 TUBGCP4 TUBGCP6 TYR TYRP1 UBE2T UBE3A UBE3B UROC1 USH1C USH1G USH2A VCAN VHL VPS13B WASHC5 WDPCP WDR73 WHCR WHRN WNT10B WNT3 WT1 XRCC2 XYLT2 YAP1 ZEB2 ZIC2 ZNF408 ZNF423

Diseases (318) :827 91387 221900 797 193235 607364 36412 2710 3205 171 464 308300 2273 35612 1451 617388 575 90340 186580 1617 617044 32960 869 243310 2995 613195 220493 475 79326 601110 64 391474 251066 601552 618012 899 709 261540 564 39044 904 52417 568 2712 309800 893 99000 1243 139471 84 1777 218340 2318 1454 7 280200 243605 138 214800 303100 233 309300 615651 286 309801 617319 194190 1377 604219 857 818 1764 116600 207 284979 2791 2396 147950 2308 300244 601631 782 88632 613702 54 617662 179 85414 2612 52055 300472 181270 66629 170 609049 280 222448 2143 259770 251750 610202 85284 249000 615219 101082 132900 137750 190 649 193520 162210 162200 601321 955 2789 220497 534 122000 137902 912 2151 3163 2377 616364 861 2092 305600 1435 169150 377 109400 610828 2969 1587 616428 615147 3301 959 607323 611638 613406 212550 370097 2250 1553 77298 612713 160565 921 615145 1297 113620 616744 225 805 2707 193 1473 235730 231550 264800 615458 1885 225200 231178 259900 744 79095 85410 1556 231183 314918 193220 654 79241 2440 163937 221061 231169 2196 607595 2556 180849 616311 613265 277580 194050 133540 602361 608895 154700 616118 613001 29072 250923 602482 610256 190685 257850 615510 185300 618031 615516 176270 1422 213300 1065 206700 2526 152950 167 214500 615877 617111 79432 614303 103500 79478 79476 310600 203200 261600 148820 193500 106210 120200 194072 85167 280651 614613 214100 614866 214110 180500 137600 1180 215470 613150 101800 608161 79477 180200 212840 312600 107480 79435 606574 97229 610733 611584 613266 612783 412057 618223 268130 608091 610688 613550 604292 616335 251270 79434 203100 79433 105830 276880 216550 251300 85194 521445 608233 284804 617050 614077 614171 120970 210370 614076 895 242840 602772 607921 1606 300500 5 203300 614073 614074 614075 270450 118450 2884 172800 352723 103470 193510 258870 120330 894 269880 1170 613105 608133 613758 238970 608890 163746 609136 79431 143200 616468 600376 172870 215500 161200 613750 275400 108985
 

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