Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal anterior eye segment morphology (HP:0004328)help
Grandparent Node:
expand
Abnormal uvea morphology (HP:0000553)help
Parent Node:
expand
Abnormality iris morphology (HP:0000525)help
..Starting node
..expand
Abnormal pupil morphology (HP:0000615)help
Term ID: 615
Name: Abnormal pupil morphology
Synonym: Abnormal pupillary morphology; Abnormality of the pupil; Pupillary abnormalities; Pupillary abnormality
Definition: An abnormality of the pupil.
Comments:
Reference: HP:0000615
Genes and Diseases:
 
       Child Nodes:
........expandLeukocoria (HP:0000555) help
........expandAnisocoria (HP:0009916) help
........expandPersistent pupillary membrane (HP:0009917) help
........expandEctopia pupillae (HP:0009918) help
........expandPolycoria (HP:0011500) help
........expandAbnormal pupil shape (HP:0025309) help
................... HP:0025310 Oval pupil
........expandMicrocoria (HP:0025492) help

 Sister Nodes: 
..expandAbnormal iris pigmentation (HP:0008034) help
..expandAbnormal iris vasculature (HP:0007905) help
..expandAplasia/Hypoplasia of the iris (HP:0008053) help
..expandIridodonesis (HP:0100693) help
..expandIris atrophy (HP:0001089) help
..expandIris coloboma (HP:0000612) help
..expandIris cyst (HP:0011523) help
..expandIris flocculi (HP:0500007) help
..expandIris melanoma (HP:0011524) help
..expandIris nevus (HP:0011525) help
..expandIritis (HP:0001101) help
..expandLisch nodules (HP:0009737) help
..expandUveal ectropion (HP:0025358) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000615HP:0000615Abnormal pupil morphology0ELP1 CL E G H85181764ORPHA111815959603722
HP:0000615HP:0000615Abnormal pupil morphology0ELP1 CL E G H85181764ORPHA110545959603722
HP:0000615HP:0000615Abnormal pupil morphology0GPR143 CL E G H493554ORPHA129720145300808
HP:0000615HP:0000615Abnormal pupil morphology0GPR143 CL E G H493554ORPHA137420145300808
HP:0000615HP:0000615Abnormal pupil morphology0MPZ CL E G H4359101082ORPHA15227225159440
HP:0000615HP:0000615Abnormal pupil morphology0MPZ CL E G H4359101082ORPHA14937225159440
HP:0000615HP:0000615Abnormal pupil morphology0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14758108300535
HP:0000615HP:0000615Abnormal pupil morphology0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14258108300535
HP:0000615HP:0000615Abnormal pupil morphology0PHOX2B CL E G H89292151ORPHA16099143603851
HP:0000615HP:0000615Abnormal pupil morphology0PHOX2B CL E G H89292151ORPHA15129143603851
HP:0000615HP:0000615Abnormal pupil morphology0PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA13078979171833
HP:0000615HP:0000615Abnormal pupil morphology0PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA12628979171833
HP:0000615HP:0000615Abnormal pupil morphology0PTEN CL E G H57282969ORPHA124169588601728
HP:0000615HP:0000615Abnormal pupil morphology0PTEN CL E G H57282969ORPHA122469588601728
HP:0000615HP:0025309Abnormal pupil shape1ELP1 CL E G H85181764ORPHA111815959603722
HP:0000615HP:0009916Anisocoria1ELP1 CL E G H85181764ORPHA111815959603722
HP:0000615HP:0000555Leukocoria1ELP1 CL E G H85181764ORPHA111815959603722
HP:0000615HP:0009917Persistent pupillary membrane1ELP1 CL E G H85181764ORPHA111815959603722
HP:0000615HP:0025309Abnormal pupil shape1ELP1 CL E G H85181764ORPHA110545959603722
HP:0000615HP:0009916Anisocoria1ELP1 CL E G H85181764ORPHA110545959603722
HP:0000615HP:0000555Leukocoria1ELP1 CL E G H85181764ORPHA110545959603722
HP:0000615HP:0009917Persistent pupillary membrane1ELP1 CL E G H85181764ORPHA110545959603722
HP:0000615HP:0009918Ectopia pupillae1ELP1 CL E G H85181764ORPHA111815959603722
HP:0000615HP:0025492Microcoria1ELP1 CL E G H85181764ORPHA111815959603722
HP:0000615HP:0011500Polycoria1ELP1 CL E G H85181764ORPHA111815959603722
HP:0000615HP:0009918Ectopia pupillae1ELP1 CL E G H85181764ORPHA110545959603722
HP:0000615HP:0025492Microcoria1ELP1 CL E G H85181764ORPHA110545959603722
HP:0000615HP:0011500Polycoria1ELP1 CL E G H85181764ORPHA110545959603722
HP:0000615HP:0009916Anisocoria1GPR143 CL E G H493554ORPHA129720145300808
HP:0000615HP:0000555Leukocoria1GPR143 CL E G H493554ORPHA129720145300808
HP:0000615HP:0009917Persistent pupillary membrane1GPR143 CL E G H493554ORPHA129720145300808
HP:0000615HP:0025309Abnormal pupil shape1GPR143 CL E G H493554ORPHA129720145300808
HP:0000615HP:0009918Ectopia pupillae1GPR143 CL E G H493554ORPHA137420145300808
HP:0000615HP:0025492Microcoria1GPR143 CL E G H493554ORPHA137420145300808
HP:0000615HP:0011500Polycoria1GPR143 CL E G H493554ORPHA137420145300808
HP:0000615HP:0009918Ectopia pupillae1GPR143 CL E G H493554ORPHA129720145300808
HP:0000615HP:0025492Microcoria1GPR143 CL E G H493554ORPHA129720145300808
HP:0000615HP:0011500Polycoria1GPR143 CL E G H493554ORPHA129720145300808
HP:0000615HP:0009916Anisocoria1GPR143 CL E G H493554ORPHA137420145300808
HP:0000615HP:0000555Leukocoria1GPR143 CL E G H493554ORPHA137420145300808
HP:0000615HP:0009917Persistent pupillary membrane1GPR143 CL E G H493554ORPHA137420145300808
HP:0000615HP:0025309Abnormal pupil shape1GPR143 CL E G H493554ORPHA137420145300808
HP:0000615HP:0009916Anisocoria1MPZ CL E G H4359101082ORPHA15227225159440
HP:0000615HP:0000555Leukocoria1MPZ CL E G H4359101082ORPHA15227225159440
HP:0000615HP:0009917Persistent pupillary membrane1MPZ CL E G H4359101082ORPHA15227225159440
HP:0000615HP:0025309Abnormal pupil shape1MPZ CL E G H4359101082ORPHA15227225159440
HP:0000615HP:0009916Anisocoria1MPZ CL E G H4359101082ORPHA14937225159440
HP:0000615HP:0000555Leukocoria1MPZ CL E G H4359101082ORPHA14937225159440
HP:0000615HP:0009917Persistent pupillary membrane1MPZ CL E G H4359101082ORPHA14937225159440
HP:0000615HP:0025309Abnormal pupil shape1MPZ CL E G H4359101082ORPHA14937225159440
HP:0000615HP:0009918Ectopia pupillae1MPZ CL E G H4359101082ORPHA15227225159440
HP:0000615HP:0025492Microcoria1MPZ CL E G H4359101082ORPHA15227225159440
HP:0000615HP:0011500Polycoria1MPZ CL E G H4359101082ORPHA15227225159440
HP:0000615HP:0009918Ectopia pupillae1MPZ CL E G H4359101082ORPHA14937225159440
HP:0000615HP:0025492Microcoria1MPZ CL E G H4359101082ORPHA14937225159440
HP:0000615HP:0011500Polycoria1MPZ CL E G H4359101082ORPHA14937225159440
HP:0000615HP:0025309Abnormal pupil shape1OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14758108300535
HP:0000615HP:0009916Anisocoria1OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14758108300535
HP:0000615HP:0000555Leukocoria1OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14758108300535
HP:0000615HP:0009917Persistent pupillary membrane1OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14758108300535
HP:0000615HP:0025309Abnormal pupil shape1OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14258108300535
HP:0000615HP:0009916Anisocoria1OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14258108300535
HP:0000615HP:0000555Leukocoria1OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14258108300535
HP:0000615HP:0009917Persistent pupillary membrane1OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14258108300535
HP:0000615HP:0009918Ectopia pupillae1OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14758108300535
HP:0000615HP:0025492Microcoria1OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14758108300535
HP:0000615HP:0011500Polycoria1OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14758108300535
HP:0000615HP:0009918Ectopia pupillae1OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14258108300535
HP:0000615HP:0025492Microcoria1OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14258108300535
HP:0000615HP:0011500Polycoria1OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14258108300535
HP:0000615HP:0009918Ectopia pupillae1PHOX2B CL E G H89292151ORPHA16099143603851
HP:0000615HP:0025492Microcoria1PHOX2B CL E G H89292151ORPHA16099143603851
HP:0000615HP:0011500Polycoria1PHOX2B CL E G H89292151ORPHA16099143603851
HP:0000615HP:0009918Ectopia pupillae1PHOX2B CL E G H89292151ORPHA15129143603851
HP:0000615HP:0025492Microcoria1PHOX2B CL E G H89292151ORPHA15129143603851
HP:0000615HP:0011500Polycoria1PHOX2B CL E G H89292151ORPHA15129143603851
HP:0000615HP:0025309Abnormal pupil shape1PHOX2B CL E G H89292151ORPHA16099143603851
HP:0000615HP:0009916Anisocoria1PHOX2B CL E G H89292151ORPHA16099143603851
HP:0000615HP:0000555Leukocoria1PHOX2B CL E G H89292151ORPHA16099143603851
HP:0000615HP:0009917Persistent pupillary membrane1PHOX2B CL E G H89292151ORPHA16099143603851
HP:0000615HP:0009916Anisocoria1PHOX2B CL E G H89292151ORPHA15129143603851
HP:0000615HP:0000555Leukocoria1PHOX2B CL E G H89292151ORPHA15129143603851
HP:0000615HP:0009917Persistent pupillary membrane1PHOX2B CL E G H89292151ORPHA15129143603851
HP:0000615HP:0025309Abnormal pupil shape1PHOX2B CL E G H89292151ORPHA15129143603851
HP:0000615HP:0009918Ectopia pupillae1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA13078979171833
HP:0000615HP:0025492Microcoria1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA13078979171833
HP:0000615HP:0011500Polycoria1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA13078979171833
HP:0000615HP:0009918Ectopia pupillae1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA12628979171833
HP:0000615HP:0025492Microcoria1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA12628979171833
HP:0000615HP:0011500Polycoria1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA12628979171833
HP:0000615HP:0009916Anisocoria1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA13078979171833
HP:0000615HP:0000555Leukocoria1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA13078979171833
HP:0000615HP:0009917Persistent pupillary membrane1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA13078979171833
HP:0000615HP:0025309Abnormal pupil shape1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA13078979171833
HP:0000615HP:0009916Anisocoria1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA12628979171833
HP:0000615HP:0000555Leukocoria1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA12628979171833
HP:0000615HP:0009917Persistent pupillary membrane1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA12628979171833
HP:0000615HP:0025309Abnormal pupil shape1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA12628979171833
HP:0000615HP:0025309Abnormal pupil shape1PTEN CL E G H57282969ORPHA124169588601728
HP:0000615HP:0009916Anisocoria1PTEN CL E G H57282969ORPHA124169588601728
HP:0000615HP:0000555Leukocoria1PTEN CL E G H57282969ORPHA124169588601728
HP:0000615HP:0009917Persistent pupillary membrane1PTEN CL E G H57282969ORPHA124169588601728
HP:0000615HP:0009916Anisocoria1PTEN CL E G H57282969ORPHA122469588601728
HP:0000615HP:0000555Leukocoria1PTEN CL E G H57282969ORPHA122469588601728
HP:0000615HP:0009917Persistent pupillary membrane1PTEN CL E G H57282969ORPHA122469588601728
HP:0000615HP:0025309Abnormal pupil shape1PTEN CL E G H57282969ORPHA122469588601728
HP:0000615HP:0009918Ectopia pupillae1PTEN CL E G H57282969ORPHA124169588601728
HP:0000615HP:0025492Microcoria1PTEN CL E G H57282969ORPHA124169588601728
HP:0000615HP:0011500Polycoria1PTEN CL E G H57282969ORPHA124169588601728
HP:0000615HP:0009918Ectopia pupillae1PTEN CL E G H57282969ORPHA122469588601728
HP:0000615HP:0025492Microcoria1PTEN CL E G H57282969ORPHA122469588601728
HP:0000615HP:0011500Polycoria1PTEN CL E G H57282969ORPHA122469588601728
HP:0000615HP:0025310Oval pupil2ELP1 CL E G H85181764ORPHA111815959603722
HP:0000615HP:0025310Oval pupil2ELP1 CL E G H85181764ORPHA110545959603722
HP:0000615HP:0025310Oval pupil2GPR143 CL E G H493554ORPHA137420145300808
HP:0000615HP:0025310Oval pupil2GPR143 CL E G H493554ORPHA129720145300808
HP:0000615HP:0025310Oval pupil2MPZ CL E G H4359101082ORPHA15227225159440
HP:0000615HP:0025310Oval pupil2MPZ CL E G H4359101082ORPHA14937225159440
HP:0000615HP:0025310Oval pupil2OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14758108300535
HP:0000615HP:0025310Oval pupil2OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14258108300535
HP:0000615HP:0025310Oval pupil2PHOX2B CL E G H89292151ORPHA16099143603851
HP:0000615HP:0025310Oval pupil2PHOX2B CL E G H89292151ORPHA15129143603851
HP:0000615HP:0025310Oval pupil2PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA13078979171833
HP:0000615HP:0025310Oval pupil2PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA12628979171833
HP:0000615HP:0025310Oval pupil2PTEN CL E G H57282969ORPHA124169588601728
HP:0000615HP:0025310Oval pupil2PTEN CL E G H57282969ORPHA122469588601728
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000615HP:0000615Abnormal pupil morphology0CHN1 CL E G H1123233D ercole syndromeORPHA01171943118423
HP:0000615HP:0000615Abnormal pupil morphology0CHN1 CL E G H1123233D ercole syndromeORPHA01161943118423
HP:0000615HP:0000615Abnormal pupil morphology0COL25A1 CL E G H84570233D ercole syndromeORPHA04618603610004
HP:0000615HP:0000615Abnormal pupil morphology0COL25A1 CL E G H84570233D ercole syndromeORPHA04318603610004
HP:0000615HP:0000615Abnormal pupil morphology0COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA020832201120180
HP:0000615HP:0000615Abnormal pupil morphology0COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA019352201120180
HP:0000615HP:0000615Abnormal pupil morphology0COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA022462209120215
HP:0000615HP:0000615Abnormal pupil morphology0COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA020772209120215
HP:0000615HP:0000615Abnormal pupil morphology0KRT25 CL E G H147183170ORPHA02630839616646
HP:0000615HP:0000615Abnormal pupil morphology0KRT71 CL E G H112802170ORPHA05328927608245
HP:0000615HP:0000615Abnormal pupil morphology0KRT71 CL E G H112802170ORPHA05228927608245
HP:0000615HP:0000615Abnormal pupil morphology0KRT74 CL E G H121391170ORPHA08528929608248
HP:0000615HP:0000615Abnormal pupil morphology0LIPH CL E G H200879170ORPHA07218483607365
HP:0000615HP:0000615Abnormal pupil morphology0LPAR6 CL E G H10161170ORPHA010115520609239
HP:0000615HP:0000615Abnormal pupil morphology0LPAR6 CL E G H10161170ORPHA09615520609239
HP:0000615HP:0000615Abnormal pupil morphology0MAFB CL E G H9935233D ercole syndromeORPHA01126408608968
HP:0000615HP:0000615Abnormal pupil morphology0MAFB CL E G H9935233D ercole syndromeORPHA01056408608968
HP:0000615HP:0000615Abnormal pupil morphology0NDP CL E G H4693649ORPHA02637678300658
HP:0000615HP:0000615Abnormal pupil morphology0NDP CL E G H4693649ORPHA02457678300658
HP:0000615HP:0000615Abnormal pupil morphology0STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM045211386605921
HP:0000615HP:0000615Abnormal pupil morphology0STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM037911386605921
HP:0000615HP:0011500Polycoria1CHN1 CL E G H1123233D ercole syndromeORPHA01171943118423
HP:0000615HP:0009918Ectopia pupillae1CHN1 CL E G H1123233D ercole syndromeORPHA01171943118423
HP:0000615HP:0025492Microcoria1CHN1 CL E G H1123233D ercole syndromeORPHA01171943118423
HP:0000615HP:0011500Polycoria1CHN1 CL E G H1123233D ercole syndromeORPHA01161943118423
HP:0000615HP:0009918Ectopia pupillae1CHN1 CL E G H1123233D ercole syndromeORPHA01161943118423
HP:0000615HP:0025492Microcoria1CHN1 CL E G H1123233D ercole syndromeORPHA01161943118423
HP:0000615HP:0025309Abnormal pupil shape1CHN1 CL E G H1123233D ercole syndromeORPHA01171943118423
HP:0000615HP:0009916Anisocoria1CHN1 CL E G H1123233D ercole syndromeORPHA01171943118423
HP:0000615HP:0000555Leukocoria1CHN1 CL E G H1123233D ercole syndromeORPHA01171943118423
HP:0000615HP:0009917Persistent pupillary membrane1CHN1 CL E G H1123233D ercole syndromeORPHA01171943118423
HP:0000615HP:0025309Abnormal pupil shape1CHN1 CL E G H1123233D ercole syndromeORPHA01161943118423
HP:0000615HP:0009916Anisocoria1CHN1 CL E G H1123233D ercole syndromeORPHA01161943118423
HP:0000615HP:0000555Leukocoria1CHN1 CL E G H1123233D ercole syndromeORPHA01161943118423
HP:0000615HP:0009917Persistent pupillary membrane1CHN1 CL E G H1123233D ercole syndromeORPHA01161943118423
HP:0000615HP:0025309Abnormal pupil shape1COL25A1 CL E G H84570233D ercole syndromeORPHA04618603610004
HP:0000615HP:0009916Anisocoria1COL25A1 CL E G H84570233D ercole syndromeORPHA04618603610004
HP:0000615HP:0000555Leukocoria1COL25A1 CL E G H84570233D ercole syndromeORPHA04618603610004
HP:0000615HP:0009917Persistent pupillary membrane1COL25A1 CL E G H84570233D ercole syndromeORPHA04618603610004
HP:0000615HP:0025309Abnormal pupil shape1COL25A1 CL E G H84570233D ercole syndromeORPHA04318603610004
HP:0000615HP:0009916Anisocoria1COL25A1 CL E G H84570233D ercole syndromeORPHA04318603610004
HP:0000615HP:0000555Leukocoria1COL25A1 CL E G H84570233D ercole syndromeORPHA04318603610004
HP:0000615HP:0009917Persistent pupillary membrane1COL25A1 CL E G H84570233D ercole syndromeORPHA04318603610004
HP:0000615HP:0011500Polycoria1COL25A1 CL E G H84570233D ercole syndromeORPHA04618603610004
HP:0000615HP:0009918Ectopia pupillae1COL25A1 CL E G H84570233D ercole syndromeORPHA04618603610004
HP:0000615HP:0025492Microcoria1COL25A1 CL E G H84570233D ercole syndromeORPHA04618603610004
HP:0000615HP:0009918Ectopia pupillae1COL25A1 CL E G H84570233D ercole syndromeORPHA04318603610004
HP:0000615HP:0025492Microcoria1COL25A1 CL E G H84570233D ercole syndromeORPHA04318603610004
HP:0000615HP:0011500Polycoria1COL25A1 CL E G H84570233D ercole syndromeORPHA04318603610004
HP:0000615HP:0025309Abnormal pupil shape1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA020832201120180
HP:0000615HP:0009916Anisocoria1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA020832201120180
HP:0000615HP:0000555Leukocoria1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA020832201120180
HP:0000615HP:0009917Persistent pupillary membrane1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA020832201120180
HP:0000615HP:0025309Abnormal pupil shape1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA019352201120180
HP:0000615HP:0009916Anisocoria1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA019352201120180
HP:0000615HP:0000555Leukocoria1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA019352201120180
HP:0000615HP:0009917Persistent pupillary membrane1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA019352201120180
HP:0000615HP:0009918Ectopia pupillae1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA020832201120180
HP:0000615HP:0025492Microcoria1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA020832201120180
HP:0000615HP:0011500Polycoria1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA020832201120180
HP:0000615HP:0009918Ectopia pupillae1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA019352201120180
HP:0000615HP:0025492Microcoria1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA019352201120180
HP:0000615HP:0011500Polycoria1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA019352201120180
HP:0000615HP:0009918Ectopia pupillae1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA022462209120215
HP:0000615HP:0025492Microcoria1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA022462209120215
HP:0000615HP:0011500Polycoria1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA022462209120215
HP:0000615HP:0009918Ectopia pupillae1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA020772209120215
HP:0000615HP:0025492Microcoria1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA020772209120215
HP:0000615HP:0011500Polycoria1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA020772209120215
HP:0000615HP:0025309Abnormal pupil shape1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA022462209120215
HP:0000615HP:0009916Anisocoria1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA022462209120215
HP:0000615HP:0000555Leukocoria1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA022462209120215
HP:0000615HP:0009917Persistent pupillary membrane1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA022462209120215
HP:0000615HP:0025309Abnormal pupil shape1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA020772209120215
HP:0000615HP:0009916Anisocoria1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA020772209120215
HP:0000615HP:0000555Leukocoria1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA020772209120215
HP:0000615HP:0009917Persistent pupillary membrane1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA020772209120215
HP:0000615HP:0009917Persistent pupillary membrane1KRT25 CL E G H147183170ORPHA02630839616646
HP:0000615HP:0009916Anisocoria1KRT25 CL E G H147183170ORPHA02630839616646
HP:0000615HP:0025492Microcoria1KRT25 CL E G H147183170ORPHA02630839616646
HP:0000615HP:0000555Leukocoria1KRT25 CL E G H147183170ORPHA02630839616646
HP:0000615HP:0025309Abnormal pupil shape1KRT25 CL E G H147183170ORPHA02630839616646
HP:0000615HP:0009918Ectopia pupillae1KRT25 CL E G H147183170ORPHA02630839616646
HP:0000615HP:0011500Polycoria1KRT25 CL E G H147183170ORPHA02630839616646
HP:0000615HP:0009917Persistent pupillary membrane1KRT71 CL E G H112802170ORPHA05328927608245
HP:0000615HP:0025309Abnormal pupil shape1KRT71 CL E G H112802170ORPHA05328927608245
HP:0000615HP:0009916Anisocoria1KRT71 CL E G H112802170ORPHA05328927608245
HP:0000615HP:0000555Leukocoria1KRT71 CL E G H112802170ORPHA05328927608245
HP:0000615HP:0009917Persistent pupillary membrane1KRT71 CL E G H112802170ORPHA05228927608245
HP:0000615HP:0025309Abnormal pupil shape1KRT71 CL E G H112802170ORPHA05228927608245
HP:0000615HP:0009916Anisocoria1KRT71 CL E G H112802170ORPHA05228927608245
HP:0000615HP:0000555Leukocoria1KRT71 CL E G H112802170ORPHA05228927608245
HP:0000615HP:0011500Polycoria1KRT71 CL E G H112802170ORPHA05328927608245
HP:0000615HP:0009918Ectopia pupillae1KRT71 CL E G H112802170ORPHA05328927608245
HP:0000615HP:0025492Microcoria1KRT71 CL E G H112802170ORPHA05328927608245
HP:0000615HP:0011500Polycoria1KRT71 CL E G H112802170ORPHA05228927608245
HP:0000615HP:0009918Ectopia pupillae1KRT71 CL E G H112802170ORPHA05228927608245
HP:0000615HP:0025492Microcoria1KRT71 CL E G H112802170ORPHA05228927608245
HP:0000615HP:0009918Ectopia pupillae1KRT74 CL E G H121391170ORPHA08528929608248
HP:0000615HP:0011500Polycoria1KRT74 CL E G H121391170ORPHA08528929608248
HP:0000615HP:0009916Anisocoria1KRT74 CL E G H121391170ORPHA08528929608248
HP:0000615HP:0009917Persistent pupillary membrane1KRT74 CL E G H121391170ORPHA08528929608248
HP:0000615HP:0025492Microcoria1KRT74 CL E G H121391170ORPHA08528929608248
HP:0000615HP:0025309Abnormal pupil shape1KRT74 CL E G H121391170ORPHA08528929608248
HP:0000615HP:0000555Leukocoria1KRT74 CL E G H121391170ORPHA08528929608248
HP:0000615HP:0009917Persistent pupillary membrane1LIPH CL E G H200879170ORPHA07218483607365
HP:0000615HP:0009916Anisocoria1LIPH CL E G H200879170ORPHA07218483607365
HP:0000615HP:0025492Microcoria1LIPH CL E G H200879170ORPHA07218483607365
HP:0000615HP:0000555Leukocoria1LIPH CL E G H200879170ORPHA07218483607365
HP:0000615HP:0025309Abnormal pupil shape1LIPH CL E G H200879170ORPHA07218483607365
HP:0000615HP:0011500Polycoria1LIPH CL E G H200879170ORPHA07218483607365
HP:0000615HP:0009918Ectopia pupillae1LIPH CL E G H200879170ORPHA07218483607365
HP:0000615HP:0025309Abnormal pupil shape1LPAR6 CL E G H10161170ORPHA010115520609239
HP:0000615HP:0009916Anisocoria1LPAR6 CL E G H10161170ORPHA010115520609239
HP:0000615HP:0000555Leukocoria1LPAR6 CL E G H10161170ORPHA010115520609239
HP:0000615HP:0009917Persistent pupillary membrane1LPAR6 CL E G H10161170ORPHA010115520609239
HP:0000615HP:0025309Abnormal pupil shape1LPAR6 CL E G H10161170ORPHA09615520609239
HP:0000615HP:0009916Anisocoria1LPAR6 CL E G H10161170ORPHA09615520609239
HP:0000615HP:0000555Leukocoria1LPAR6 CL E G H10161170ORPHA09615520609239
HP:0000615HP:0009917Persistent pupillary membrane1LPAR6 CL E G H10161170ORPHA09615520609239
HP:0000615HP:0011500Polycoria1LPAR6 CL E G H10161170ORPHA010115520609239
HP:0000615HP:0009918Ectopia pupillae1LPAR6 CL E G H10161170ORPHA010115520609239
HP:0000615HP:0025492Microcoria1LPAR6 CL E G H10161170ORPHA010115520609239
HP:0000615HP:0011500Polycoria1LPAR6 CL E G H10161170ORPHA09615520609239
HP:0000615HP:0009918Ectopia pupillae1LPAR6 CL E G H10161170ORPHA09615520609239
HP:0000615HP:0025492Microcoria1LPAR6 CL E G H10161170ORPHA09615520609239
HP:0000615HP:0011500Polycoria1MAFB CL E G H9935233D ercole syndromeORPHA01126408608968
HP:0000615HP:0009918Ectopia pupillae1MAFB CL E G H9935233D ercole syndromeORPHA01126408608968
HP:0000615HP:0025492Microcoria1MAFB CL E G H9935233D ercole syndromeORPHA01126408608968
HP:0000615HP:0009918Ectopia pupillae1MAFB CL E G H9935233D ercole syndromeORPHA01056408608968
HP:0000615HP:0025492Microcoria1MAFB CL E G H9935233D ercole syndromeORPHA01056408608968
HP:0000615HP:0011500Polycoria1MAFB CL E G H9935233D ercole syndromeORPHA01056408608968
HP:0000615HP:0025309Abnormal pupil shape1MAFB CL E G H9935233D ercole syndromeORPHA01126408608968
HP:0000615HP:0009916Anisocoria1MAFB CL E G H9935233D ercole syndromeORPHA01126408608968
HP:0000615HP:0000555Leukocoria1MAFB CL E G H9935233D ercole syndromeORPHA01126408608968
HP:0000615HP:0009917Persistent pupillary membrane1MAFB CL E G H9935233D ercole syndromeORPHA01126408608968
HP:0000615HP:0025309Abnormal pupil shape1MAFB CL E G H9935233D ercole syndromeORPHA01056408608968
HP:0000615HP:0009916Anisocoria1MAFB CL E G H9935233D ercole syndromeORPHA01056408608968
HP:0000615HP:0000555Leukocoria1MAFB CL E G H9935233D ercole syndromeORPHA01056408608968
HP:0000615HP:0009917Persistent pupillary membrane1MAFB CL E G H9935233D ercole syndromeORPHA01056408608968
HP:0000615HP:0009918Ectopia pupillae1NDP CL E G H4693649ORPHA02637678300658
HP:0000615HP:0025492Microcoria1NDP CL E G H4693649ORPHA02637678300658
HP:0000615HP:0011500Polycoria1NDP CL E G H4693649ORPHA02637678300658
HP:0000615HP:0009918Ectopia pupillae1NDP CL E G H4693649ORPHA02457678300658
HP:0000615HP:0025492Microcoria1NDP CL E G H4693649ORPHA02457678300658
HP:0000615HP:0011500Polycoria1NDP CL E G H4693649ORPHA02457678300658
HP:0000615HP:0025309Abnormal pupil shape1NDP CL E G H4693649ORPHA02637678300658
HP:0000615HP:0009916Anisocoria1NDP CL E G H4693649ORPHA02637678300658
HP:0000615HP:0000555Leukocoria1NDP CL E G H4693649ORPHA02637678300658
HP:0000615HP:0009917Persistent pupillary membrane1NDP CL E G H4693649ORPHA02637678300658
HP:0000615HP:0025309Abnormal pupil shape1NDP CL E G H4693649ORPHA02457678300658
HP:0000615HP:0009916Anisocoria1NDP CL E G H4693649ORPHA02457678300658
HP:0000615HP:0000555Leukocoria1NDP CL E G H4693649ORPHA02457678300658
HP:0000615HP:0009917Persistent pupillary membrane1NDP CL E G H4693649ORPHA02457678300658
HP:0000615HP:0009918Ectopia pupillae1STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM037911386605921
HP:0000615HP:0025492Microcoria1STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM037911386605921
HP:0000615HP:0011500Polycoria1STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM037911386605921
HP:0000615HP:0025309Abnormal pupil shape1STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM045211386605921
HP:0000615HP:0009916Anisocoria1STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM045211386605921
HP:0000615HP:0000555Leukocoria1STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM045211386605921
HP:0000615HP:0009917Persistent pupillary membrane1STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM045211386605921
HP:0000615HP:0009916Anisocoria1STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM037911386605921
HP:0000615HP:0000555Leukocoria1STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM037911386605921
HP:0000615HP:0009917Persistent pupillary membrane1STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM037911386605921
HP:0000615HP:0025309Abnormal pupil shape1STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM037911386605921
HP:0000615HP:0009918Ectopia pupillae1STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM045211386605921
HP:0000615HP:0025492Microcoria1STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM045211386605921
HP:0000615HP:0011500Polycoria1STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM045211386605921
HP:0000615HP:0025310Oval pupil2CHN1 CL E G H1123233D ercole syndromeORPHA01171943118423
HP:0000615HP:0025310Oval pupil2CHN1 CL E G H1123233D ercole syndromeORPHA01161943118423
HP:0000615HP:0025310Oval pupil2COL25A1 CL E G H84570233D ercole syndromeORPHA04618603610004
HP:0000615HP:0025310Oval pupil2COL25A1 CL E G H84570233D ercole syndromeORPHA04318603610004
HP:0000615HP:0025310Oval pupil2COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA020832201120180
HP:0000615HP:0025310Oval pupil2COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA019352201120180
HP:0000615HP:0025310Oval pupil2COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA022462209120215
HP:0000615HP:0025310Oval pupil2COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA020772209120215
HP:0000615HP:0025310Oval pupil2KRT25 CL E G H147183170ORPHA02630839616646
HP:0000615HP:0025310Oval pupil2KRT71 CL E G H112802170ORPHA05328927608245
HP:0000615HP:0025310Oval pupil2KRT71 CL E G H112802170ORPHA05228927608245
HP:0000615HP:0025310Oval pupil2KRT74 CL E G H121391170ORPHA08528929608248
HP:0000615HP:0025310Oval pupil2LIPH CL E G H200879170ORPHA07218483607365
HP:0000615HP:0025310Oval pupil2LPAR6 CL E G H10161170ORPHA010115520609239
HP:0000615HP:0025310Oval pupil2LPAR6 CL E G H10161170ORPHA09615520609239
HP:0000615HP:0025310Oval pupil2MAFB CL E G H9935233D ercole syndromeORPHA01126408608968
HP:0000615HP:0025310Oval pupil2MAFB CL E G H9935233D ercole syndromeORPHA01056408608968
HP:0000615HP:0025310Oval pupil2NDP CL E G H4693649ORPHA02637678300658
HP:0000615HP:0025310Oval pupil2NDP CL E G H4693649ORPHA02457678300658
HP:0000615HP:0025310Oval pupil2STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM037911386605921
HP:0000615HP:0025310Oval pupil2STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM045211386605921


Genes (47) :AAAS ADAMTSL4 ARL6IP6 ATOH7 CHN1 COL25A1 COL3A1 COL4A1 COL5A1 CPAMD8 CPLX1 CTBP1 ELP1 FBN1 FGFRL1 FOXC1 GJA1 GMPPA GPR143 GRHL2 KRT25 KRT71 KRT74 LAMB2 LETM1 LIPH LPAR6 MAB21L2 MAFB MPZ NDP NSD2 OCRL OVOL2 PHOX2B PIK3R1 PITX2 POMT2 PTEN RB1 RBP4 SIN3A STIM1 TBX2 TINF2 TMEM67 WHCR

Diseases (36) :233 286 1764 54 170 101082 649 534 2151 3163 2969 160565 231550 1885 225200 1556 221900 607595 617319 194190 601631 602482 257850 615510 618031 609049 615877 122000 180500 613150 180200 616428 613406 618223 268130 613550
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.