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 H5991387ORPHA1428130102620
HP:0000525HP:0000525Abnormality iris morphology0ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0000525Abnormality iris morphology0FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0000525Abnormality iris morphology0FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0000525Abnormality iris morphology0LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0000525Abnormality iris morphology0MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0000525Abnormality iris morphology0MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0000525Abnormality iris morphology0MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0000525Abnormality iris morphology0MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0000525Abnormality iris morphology0PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0000525Abnormality iris morphology0SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0000525Abnormality iris morphology0TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0000525Abnormality iris morphology0TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0000525Abnormality iris morphology0TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0000525Abnormality iris morphology0TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0000525Abnormality iris morphology0TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0001089Iris atrophy1ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0000615Abnormal pupil morphology1ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0011524Iris melanoma1ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0007905Abnormal iris vasculature1ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0008034Abnormal iris pigmentation1ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0500007Iris flocculi1ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0009737Lisch nodules1ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0025358Uveal ectropion1ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0100693Iridodonesis1ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0011523Iris cyst1ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0001101Iritis1ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0000612Iris coloboma1ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0011525Iris nevus1ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0011523Iris cyst1ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0001101Iritis1ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0000612Iris coloboma1ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0011525Iris nevus1ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0001089Iris atrophy1ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0000615Abnormal pupil morphology1ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0011524Iris melanoma1ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0007905Abnormal iris vasculature1ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0008034Abnormal iris pigmentation1ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0100693Iridodonesis1ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0500007Iris flocculi1ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0009737Lisch nodules1ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0025358Uveal ectropion1ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0008034Abnormal iris pigmentation1FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0001089Iris atrophy1FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0000615Abnormal pupil morphology1FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0011524Iris melanoma1FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0007905Abnormal iris vasculature1FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0100693Iridodonesis1FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0500007Iris flocculi1FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0009737Lisch nodules1FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0025358Uveal ectropion1FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0011523Iris cyst1FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0001101Iritis1FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0000612Iris coloboma1FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0011525Iris nevus1FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0001101Iritis1FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0011523Iris cyst1FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0011525Iris nevus1FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0000612Iris coloboma1FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0011524Iris melanoma1FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0007905Abnormal iris vasculature1FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0008034Abnormal iris pigmentation1FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0001089Iris atrophy1FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0000615Abnormal pupil morphology1FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0009737Lisch nodules1FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0025358Uveal ectropion1FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0100693Iridodonesis1FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0500007Iris flocculi1FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0001089Iris atrophy1LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0000615Abnormal pupil morphology1LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0011524Iris melanoma1LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0007905Abnormal iris vasculature1LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0008034Abnormal iris pigmentation1LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0100693Iridodonesis1LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0500007Iris flocculi1LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0009737Lisch nodules1LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0025358Uveal ectropion1LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0011523Iris cyst1LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0001101Iritis1LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0000612Iris coloboma1LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0011525Iris nevus1LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0011523Iris cyst1MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0001101Iritis1MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0000612Iris coloboma1MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0011525Iris nevus1MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0001089Iris atrophy1MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0000615Abnormal pupil morphology1MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0011524Iris melanoma1MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0007905Abnormal iris vasculature1MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0008034Abnormal iris pigmentation1MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0100693Iridodonesis1MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0500007Iris flocculi1MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0009737Lisch nodules1MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0025358Uveal ectropion1MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0008034Abnormal iris pigmentation1MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0001089Iris atrophy1MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0000615Abnormal pupil morphology1MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0011524Iris melanoma1MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0007905Abnormal iris vasculature1MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0100693Iridodonesis1MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0500007Iris flocculi1MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0009737Lisch nodules1MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0025358Uveal ectropion1MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0011523Iris cyst1MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0001101Iritis1MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0000612Iris coloboma1MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0011525Iris nevus1MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0001101Iritis1MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0011523Iris cyst1MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0011525Iris nevus1MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0000612Iris coloboma1MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0011524Iris melanoma1MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0007905Abnormal iris vasculature1MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0008034Abnormal iris pigmentation1MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0001089Iris atrophy1MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0000615Abnormal pupil morphology1MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0009737Lisch nodules1MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0025358Uveal ectropion1MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0100693Iridodonesis1MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0500007Iris flocculi1MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0001089Iris atrophy1MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0000615Abnormal pupil morphology1MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0011524Iris melanoma1MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0007905Abnormal iris vasculature1MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0008034Abnormal iris pigmentation1MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0100693Iridodonesis1MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0500007Iris flocculi1MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0009737Lisch nodules1MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0025358Uveal ectropion1MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0011523Iris cyst1MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0001101Iritis1MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0000612Iris coloboma1MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0011525Iris nevus1MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0100693Iridodonesis1PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0500007Iris flocculi1PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0025358Uveal ectropion1PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0011523Iris cyst1PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0001101Iritis1PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0000612Iris coloboma1PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0011525Iris nevus1PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0007905Abnormal iris vasculature1PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0008034Abnormal iris pigmentation1PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0001089Iris atrophy1PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0000615Abnormal pupil morphology1PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0011524Iris melanoma1PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0009737Lisch nodules1PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0000612Iris coloboma1SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0011525Iris nevus1SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0008034Abnormal iris pigmentation1SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0001089Iris atrophy1SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0000615Abnormal pupil morphology1SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0011524Iris melanoma1SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0007905Abnormal iris vasculature1SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0100693Iridodonesis1SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0500007Iris flocculi1SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0009737Lisch nodules1SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0025358Uveal ectropion1SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0011523Iris cyst1SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0001101Iritis1SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0008034Abnormal iris pigmentation1TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0001089Iris atrophy1TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0000615Abnormal pupil morphology1TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0011524Iris melanoma1TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0007905Abnormal iris vasculature1TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0100693Iridodonesis1TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0500007Iris flocculi1TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0009737Lisch nodules1TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0025358Uveal ectropion1TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0011523Iris cyst1TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0001101Iritis1TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0000612Iris coloboma1TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0011525Iris nevus1TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0500007Iris flocculi1TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0009737Lisch nodules1TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0025358Uveal ectropion1TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0100693Iridodonesis1TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0001101Iritis1TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0011523Iris cyst1TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0011525Iris nevus1TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0000612Iris coloboma1TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0000615Abnormal pupil morphology1TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0011524Iris melanoma1TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0007905Abnormal iris vasculature1TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0008034Abnormal iris pigmentation1TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0001089Iris atrophy1TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0000612Iris coloboma1TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0011525Iris nevus1TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0001089Iris atrophy1TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0000615Abnormal pupil morphology1TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0011524Iris melanoma1TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0007905Abnormal iris vasculature1TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0008034Abnormal iris pigmentation1TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0100693Iridodonesis1TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0500007Iris flocculi1TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0009737Lisch nodules1TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0025358Uveal ectropion1TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0011523Iris cyst1TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0001101Iritis1TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0100693Iridodonesis1TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0500007Iris flocculi1TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0009737Lisch nodules1TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0025358Uveal ectropion1TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0011523Iris cyst1TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0001101Iritis1TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0000612Iris coloboma1TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0011525Iris nevus1TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0001089Iris atrophy1TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0000615Abnormal pupil morphology1TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0011524Iris melanoma1TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0007905Abnormal iris vasculature1TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0008034Abnormal iris pigmentation1TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0000612Iris coloboma1TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0011525Iris nevus1TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0008034Abnormal iris pigmentation1TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0001089Iris atrophy1TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0000615Abnormal pupil morphology1TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0011524Iris melanoma1TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0007905Abnormal iris vasculature1TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0025358Uveal ectropion1TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0100693Iridodonesis1TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0500007Iris flocculi1TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0009737Lisch nodules1TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0011523Iris cyst1TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0001101Iritis1TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0009918Ectopia pupillae2ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0011500Polycoria2ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0012775Stellate iris2ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0009916Anisocoria2ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0025319Rubeosis iridis2ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0009917Persistent pupillary membrane2ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0007676Hypoplasia of the iris2ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0007730Iris hypopigmentation2ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0012805Iris transillumination defect2ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0011497Iris neovascularization2ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0025492Microcoria2ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0000526Aniridia2ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0001088Brushfield spots2ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0012634Iris pigment dispersion2ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0025309Abnormal pupil shape2ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0012635Iris hypoperfusion2ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0000555Leukocoria2ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0200064Asymmetry of iris pigmentation2ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0000635Blue irides2ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0001088Brushfield spots2ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0012805Iris transillumination defect2ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0011497Iris neovascularization2ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0025492Microcoria2ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0000526Aniridia2ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0000635Blue irides2ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0012634Iris pigment dispersion2ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0025309Abnormal pupil shape2ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0012635Iris hypoperfusion2ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0000555Leukocoria2ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0200064Asymmetry of iris pigmentation2ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0009918Ectopia pupillae2ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0011500Polycoria2ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0007676Hypoplasia of the iris2ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0007730Iris hypopigmentation2ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0012775Stellate iris2ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0009916Anisocoria2ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0025319Rubeosis iridis2ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0009917Persistent pupillary membrane2ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0011500Polycoria2FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0009918Ectopia pupillae2FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0009917Persistent pupillary membrane2FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0007676Hypoplasia of the iris2FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0007730Iris hypopigmentation2FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0012775Stellate iris2FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0009916Anisocoria2FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0025319Rubeosis iridis2FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0025492Microcoria2FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0000526Aniridia2FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0001088Brushfield spots2FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0012805Iris transillumination defect2FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0011497Iris neovascularization2FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0200064Asymmetry of iris pigmentation2FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0000635Blue irides2FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0012634Iris pigment dispersion2FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0025309Abnormal pupil shape2FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0012635Iris hypoperfusion2FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0000555Leukocoria2FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0011497Iris neovascularization2FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0025492Microcoria2FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0000526Aniridia2FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0001088Brushfield spots2FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0012805Iris transillumination defect2FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0025309Abnormal pupil shape2FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0012635Iris hypoperfusion2FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0000555Leukocoria2FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0200064Asymmetry of iris pigmentation2FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0000635Blue irides2FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0012634Iris pigment dispersion2FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0009918Ectopia pupillae2FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0011500Polycoria2FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0009916Anisocoria2FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0025319Rubeosis iridis2FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0009917Persistent pupillary membrane2FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0007676Hypoplasia of the iris2FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0007730Iris hypopigmentation2FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0012775Stellate iris2FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0009918Ectopia pupillae2LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0011500Polycoria2LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0012775Stellate iris2LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0009916Anisocoria2LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0025319Rubeosis iridis2LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0009917Persistent pupillary membrane2LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0007676Hypoplasia of the iris2LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0007730Iris hypopigmentation2LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0012805Iris transillumination defect2LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0011497Iris neovascularization2LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0025492Microcoria2LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0000526Aniridia2LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0001088Brushfield spots2LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0012634Iris pigment dispersion2LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0025309Abnormal pupil shape2LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0012635Iris hypoperfusion2LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0000555Leukocoria2LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0200064Asymmetry of iris pigmentation2LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0000635Blue irides2LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0000526Aniridia2MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0001088Brushfield spots2MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0012805Iris transillumination defect2MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0011497Iris neovascularization2MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0025492Microcoria2MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0000635Blue irides2MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0012634Iris pigment dispersion2MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0025309Abnormal pupil shape2MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0012635Iris hypoperfusion2MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0000555Leukocoria2MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0200064Asymmetry of iris pigmentation2MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0009918Ectopia pupillae2MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0011500Polycoria2MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0007676Hypoplasia of the iris2MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0007730Iris hypopigmentation2MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0012775Stellate iris2MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0009916Anisocoria2MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0025319Rubeosis iridis2MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0009917Persistent pupillary membrane2MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0011500Polycoria2MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0009918Ectopia pupillae2MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0025319Rubeosis iridis2MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0009917Persistent pupillary membrane2MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0007676Hypoplasia of the iris2MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0007730Iris hypopigmentation2MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0012775Stellate iris2MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0009916Anisocoria2MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0025492Microcoria2MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0000526Aniridia2MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0001088Brushfield spots2MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0012805Iris transillumination defect2MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0011497Iris neovascularization2MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0200064Asymmetry of iris pigmentation2MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0000635Blue irides2MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0012634Iris pigment dispersion2MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0025309Abnormal pupil shape2MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0012635Iris hypoperfusion2MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0000555Leukocoria2MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0011497Iris neovascularization2MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0025492Microcoria2MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0000526Aniridia2MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0001088Brushfield spots2MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0012805Iris transillumination defect2MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0025309Abnormal pupil shape2MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0012635Iris hypoperfusion2MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0000555Leukocoria2MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0200064Asymmetry of iris pigmentation2MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0000635Blue irides2MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0012634Iris pigment dispersion2MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0009918Ectopia pupillae2MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0011500Polycoria2MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0009916Anisocoria2MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0025319Rubeosis iridis2MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0009917Persistent pupillary membrane2MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0007676Hypoplasia of the iris2MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0007730Iris hypopigmentation2MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0012775Stellate iris2MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0009918Ectopia pupillae2MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0011500Polycoria2MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0012775Stellate iris2MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0009916Anisocoria2MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0025319Rubeosis iridis2MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0009917Persistent pupillary membrane2MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0007676Hypoplasia of the iris2MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0007730Iris hypopigmentation2MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0012805Iris transillumination defect2MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0011497Iris neovascularization2MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0025492Microcoria2MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0000526Aniridia2MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0001088Brushfield spots2MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0012634Iris pigment dispersion2MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0025309Abnormal pupil shape2MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0012635Iris hypoperfusion2MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0000555Leukocoria2MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0200064Asymmetry of iris pigmentation2MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0000635Blue irides2MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0007676Hypoplasia of the iris2PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0007730Iris hypopigmentation2PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0012775Stellate iris2PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0009916Anisocoria2PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0009917Persistent pupillary membrane2PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0011497Iris neovascularization2PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0000526Aniridia2PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0001088Brushfield spots2PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0012805Iris transillumination defect2PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0025492Microcoria2PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0000635Blue irides2PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0012635Iris hypoperfusion2PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0200064Asymmetry of iris pigmentation2PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0012634Iris pigment dispersion2PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0025309Abnormal pupil shape2PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0000555Leukocoria2PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0009918Ectopia pupillae2PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0011500Polycoria2PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0025319Rubeosis iridis2PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0000555Leukocoria2SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0200064Asymmetry of iris pigmentation2SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0000635Blue irides2SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0012634Iris pigment dispersion2SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0025309Abnormal pupil shape2SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0012635Iris hypoperfusion2SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0011500Polycoria2SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0009918Ectopia pupillae2SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0025319Rubeosis iridis2SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0009917Persistent pupillary membrane2SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0007676Hypoplasia of the iris2SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0007730Iris hypopigmentation2SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0012775Stellate iris2SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0009916Anisocoria2SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0011497Iris neovascularization2SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0025492Microcoria2SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0000526Aniridia2SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0001088Brushfield spots2SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0012805Iris transillumination defect2SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0011500Polycoria2TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0009918Ectopia pupillae2TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0009917Persistent pupillary membrane2TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0007676Hypoplasia of the iris2TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0007730Iris hypopigmentation2TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0012775Stellate iris2TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0009916Anisocoria2TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0025319Rubeosis iridis2TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0000526Aniridia2TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0001088Brushfield spots2TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0012805Iris transillumination defect2TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0011497Iris neovascularization2TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0025492Microcoria2TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0200064Asymmetry of iris pigmentation2TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0000635Blue irides2TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0012634Iris pigment dispersion2TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0025309Abnormal pupil shape2TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0012635Iris hypoperfusion2TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0000555Leukocoria2TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0009916Anisocoria2TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0025319Rubeosis iridis2TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0009917Persistent pupillary membrane2TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0007676Hypoplasia of the iris2TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0007730Iris hypopigmentation2TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0012775Stellate iris2TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0011497Iris neovascularization2TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0025492Microcoria2TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0000526Aniridia2TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0001088Brushfield spots2TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0012805Iris transillumination defect2TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0025309Abnormal pupil shape2TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0012635Iris hypoperfusion2TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0000555Leukocoria2TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0200064Asymmetry of iris pigmentation2TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0000635Blue irides2TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0012634Iris pigment dispersion2TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0009918Ectopia pupillae2TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0011500Polycoria2TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0012634Iris pigment dispersion2TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0025309Abnormal pupil shape2TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0012635Iris hypoperfusion2TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0000555Leukocoria2TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0200064Asymmetry of iris pigmentation2TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0000635Blue irides2TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0009918Ectopia pupillae2TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0011500Polycoria2TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0007730Iris hypopigmentation2TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0012775Stellate iris2TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0009916Anisocoria2TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0025319Rubeosis iridis2TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0009917Persistent pupillary membrane2TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0007676Hypoplasia of the iris2TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0012805Iris transillumination defect2TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0011497Iris neovascularization2TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0025492Microcoria2TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0000526Aniridia2TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0001088Brushfield spots2TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0007676Hypoplasia of the iris2TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0007730Iris hypopigmentation2TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0012775Stellate iris2TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0009916Anisocoria2TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0025319Rubeosis iridis2TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0009917Persistent pupillary membrane2TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0000526Aniridia2TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0001088Brushfield spots2TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0012805Iris transillumination defect2TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0011497Iris neovascularization2TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0025492Microcoria2TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0000635Blue irides2TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0012634Iris pigment dispersion2TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0025309Abnormal pupil shape2TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0012635Iris hypoperfusion2TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0000555Leukocoria2TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0200064Asymmetry of iris pigmentation2TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0009918Ectopia pupillae2TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0011500Polycoria2TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0000555Leukocoria2TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0200064Asymmetry of iris pigmentation2TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0000635Blue irides2TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0012634Iris pigment dispersion2TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0025309Abnormal pupil shape2TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0012635Iris hypoperfusion2TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0011500Polycoria2TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0009918Ectopia pupillae2TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0025319Rubeosis iridis2TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0009917Persistent pupillary membrane2TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0007676Hypoplasia of the iris2TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0007730Iris hypopigmentation2TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0012775Stellate iris2TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0009916Anisocoria2TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0011497Iris neovascularization2TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0025492Microcoria2TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0000526Aniridia2TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0001088Brushfield spots2TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0012805Iris transillumination defect2TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0008345Hypoplasia of the iris dilator muscle3ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0001107Ocular albinism3ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0025310Oval pupil3ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0001100Heterochromia iridis3ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0000558Rieger anomaly3ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0007990Hypoplastic iris stroma3ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0000558Rieger anomaly3ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0025310Oval pupil3ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0001100Heterochromia iridis3ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0007990Hypoplastic iris stroma3ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0008345Hypoplasia of the iris dilator muscle3ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0001107Ocular albinism3ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0008345Hypoplasia of the iris dilator muscle3FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0001107Ocular albinism3FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0001100Heterochromia iridis3FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0000558Rieger anomaly3FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0025310Oval pupil3FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0007990Hypoplastic iris stroma3FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0025310Oval pupil3FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0001100Heterochromia iridis3FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0000558Rieger anomaly3FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0007990Hypoplastic iris stroma3FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0008345Hypoplasia of the iris dilator muscle3FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0001107Ocular albinism3FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0008345Hypoplasia of the iris dilator muscle3LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0001107Ocular albinism3LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0025310Oval pupil3LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0001100Heterochromia iridis3LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0000558Rieger anomaly3LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0007990Hypoplastic iris stroma3LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0000558Rieger anomaly3MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0025310Oval pupil3MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0001100Heterochromia iridis3MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0007990Hypoplastic iris stroma3MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0008345Hypoplasia of the iris dilator muscle3MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0001107Ocular albinism3MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0008345Hypoplasia of the iris dilator muscle3MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0001107Ocular albinism3MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0001100Heterochromia iridis3MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0000558Rieger anomaly3MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0025310Oval pupil3MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0007990Hypoplastic iris stroma3MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0025310Oval pupil3MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0001100Heterochromia iridis3MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0000558Rieger anomaly3MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0007990Hypoplastic iris stroma3MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0008345Hypoplasia of the iris dilator muscle3MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0001107Ocular albinism3MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0001107Ocular albinism3MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0008345Hypoplasia of the iris dilator muscle3MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0025310Oval pupil3MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0001100Heterochromia iridis3MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0000558Rieger anomaly3MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0007990Hypoplastic iris stroma3MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0001100Heterochromia iridis3PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0000558Rieger anomaly3PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0025310Oval pupil3PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0007990Hypoplastic iris stroma3PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0008345Hypoplasia of the iris dilator muscle3PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0001107Ocular albinism3PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0007990Hypoplastic iris stroma3SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0008345Hypoplasia of the iris dilator muscle3SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0001107Ocular albinism3SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0001100Heterochromia iridis3SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0000558Rieger anomaly3SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0025310Oval pupil3SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0008345Hypoplasia of the iris dilator muscle3TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0001107Ocular albinism3TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0001100Heterochromia iridis3TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0000558Rieger anomaly3TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0025310Oval pupil3TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0007990Hypoplastic iris stroma3TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0025310Oval pupil3TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0001100Heterochromia iridis3TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0000558Rieger anomaly3TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0007990Hypoplastic iris stroma3TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0008345Hypoplasia of the iris dilator muscle3TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0001107Ocular albinism3TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0007990Hypoplastic iris stroma3TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0001107Ocular albinism3TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0008345Hypoplasia of the iris dilator muscle3TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0000558Rieger anomaly3TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0025310Oval pupil3TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0001100Heterochromia iridis3TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0000558Rieger anomaly3TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0025310Oval pupil3TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0001100Heterochromia iridis3TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0007990Hypoplastic iris stroma3TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0008345Hypoplasia of the iris dilator muscle3TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0001107Ocular albinism3TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0007990Hypoplastic iris stroma3TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0008345Hypoplasia of the iris dilator muscle3TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0001107Ocular albinism3TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0001100Heterochromia iridis3TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0000558Rieger anomaly3TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0025310Oval pupil3TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0009781Lester's sign4ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0007818Central heterochromia4ACTA2 CL E G H5991387ORPHA1428130102620
HP:0000525HP:0009781Lester's sign4ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0007818Central heterochromia4ELN CL E G H200691387ORPHA17633327130160
HP:0000525HP:0009781Lester's sign4FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0007818Central heterochromia4FBN1 CL E G H220091387ORPHA159703603134797
HP:0000525HP:0009781Lester's sign4FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0007818Central heterochromia4FOXE3 CL E G H230191387ORPHA12563808601094
HP:0000525HP:0009781Lester's sign4LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0007818Central heterochromia4LOX CL E G H401591387ORPHA12726664153455
HP:0000525HP:0009781Lester's sign4MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0007818Central heterochromia4MAT2A CL E G H414491387ORPHA11646904601468
HP:0000525HP:0009781Lester's sign4MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0007818Central heterochromia4MFAP5 CL E G H807691387ORPHA118629673601103
HP:0000525HP:0009781Lester's sign4MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0007818Central heterochromia4MYH11 CL E G H462991387ORPHA127217569160745
HP:0000525HP:0009781Lester's sign4MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0007818Central heterochromia4MYLK CL E G H463891387ORPHA114457590600922
HP:0000525HP:0009781Lester's sign4PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0007818Central heterochromia4PRKG1 CL E G H559291387ORPHA15269414176894
HP:0000525HP:0009781Lester's sign4SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0007818Central heterochromia4SMAD3 CL E G H408891387ORPHA18346769603109
HP:0000525HP:0009781Lester's sign4TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0007818Central heterochromia4TBR1 CL E G H107161617ORPHA115911590604616
HP:0000525HP:0007818Central heterochromia4TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0009781Lester's sign4TGFB2 CL E G H704291387ORPHA154011768190220
HP:0000525HP:0009781Lester's sign4TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0007818Central heterochromia4TGFB3 CL E G H704391387ORPHA146911769190230
HP:0000525HP:0007818Central heterochromia4TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0009781Lester's sign4TGFBR1 CL E G H704691387ORPHA177811772190181
HP:0000525HP:0009781Lester's sign4TGFBR2 CL E G H704891387ORPHA184211773190182
HP:0000525HP:0007818Central heterochromia4TGFBR2 CL E G H704891387ORPHA184211773190182
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000525HP:0000525Abnormality iris morphology0GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0001101Iritis1GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0011523Iris cyst1GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0011525Iris nevus1GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0000612Iris coloboma1GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0011524Iris melanoma1GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0007905Abnormal iris vasculature1GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0008034Abnormal iris pigmentation1GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0001089Iris atrophy1GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0000615Abnormal pupil morphology1GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0009737Lisch nodules1GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0025358Uveal ectropion1GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0100693Iridodonesis1GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0500007Iris flocculi1GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0011497Iris neovascularization2GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0025492Microcoria2GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0000526Aniridia2GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0001088Brushfield spots2GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0012805Iris transillumination defect2GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0012635Iris hypoperfusion2GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0000555Leukocoria2GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0200064Asymmetry of iris pigmentation2GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0000635Blue irides2GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0012634Iris pigment dispersion2GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0025309Abnormal pupil shape2GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0009918Ectopia pupillae2GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0011500Polycoria2GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0009916Anisocoria2GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0025319Rubeosis iridis2GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0009917Persistent pupillary membrane2GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0007676Hypoplasia of the iris2GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0007730Iris hypopigmentation2GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0012775Stellate iris2GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0025310Oval pupil3GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0001100Heterochromia iridis3GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0000558Rieger anomaly3GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0007990Hypoplastic iris stroma3GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0008345Hypoplasia of the iris dilator muscle3GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0001107Ocular albinism3GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0009781Lester's sign4GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000525HP:0007818Central heterochromia4GJA1 CL E G H26972710Hm syndromeORPHA02214274121014


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