Human Phenotype Ontology 
Grandparent Node:
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Abnormal anterior eye segment morphology (HP:0004328)help
Grandparent Node:
expand
Abnormal uvea morphology (HP:0000553)help
Parent Node:
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Abnormality iris morphology (HP:0000525)help
..Starting node
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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 H85181764ORPHA166605959603722
HP:0000615HP:0000615Abnormal pupil morphology0GPR143 CL E G H493554ORPHA118126120145300808
HP:0000615HP:0000615Abnormal pupil morphology0MPZ CL E G H4359101082ORPHA12464447225159440
HP:0000615HP:0000615Abnormal pupil morphology0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA12643428108300535
HP:0000615HP:0000615Abnormal pupil morphology0PHOX2B CL E G H89292151ORPHA1883879143603851
HP:0000615HP:0000615Abnormal pupil morphology0PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA1291568979171833
HP:0000615HP:0000615Abnormal pupil morphology0PTEN CL E G H57282969ORPHA165820199588601728
HP:0000615HP:0000615Abnormal pupil morphology1ELP1 CL E G H85181764ORPHA166605959603722
HP:0000615HP:0000615Abnormal pupil morphology1GPR143 CL E G H493554ORPHA118126120145300808
HP:0000615HP:0000615Abnormal pupil morphology1MPZ CL E G H4359101082ORPHA12464447225159440
HP:0000615HP:0000615Abnormal pupil morphology1OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA12643428108300535
HP:0000615HP:0000615Abnormal pupil morphology1PHOX2B CL E G H89292151ORPHA1883879143603851
HP:0000615HP:0000615Abnormal pupil morphology1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA1291568979171833
HP:0000615HP:0000615Abnormal pupil morphology1PTEN CL E G H57282969ORPHA165820199588601728
HP:0000615HP:0000615Abnormal pupil morphology2ELP1 CL E G H85181764ORPHA166605959603722
HP:0000615HP:0000615Abnormal pupil morphology2GPR143 CL E G H493554ORPHA118126120145300808
HP:0000615HP:0000615Abnormal pupil morphology2MPZ CL E G H4359101082ORPHA12464447225159440
HP:0000615HP:0000615Abnormal pupil morphology2OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA12643428108300535
HP:0000615HP:0000615Abnormal pupil morphology2PHOX2B CL E G H89292151ORPHA1883879143603851
HP:0000615HP:0000615Abnormal pupil morphology2PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA1291568979171833
HP:0000615HP:0000615Abnormal pupil morphology2PTEN CL E G H57282969ORPHA165820199588601728
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000615HP:0000615Abnormal pupil morphology0CHN1 CL E G H1123233D ercole syndromeORPHA0111111943118423
HP:0000615HP:0000615Abnormal pupil morphology0COL25A1 CL E G H84570233D ercole syndromeORPHA044118603610004
HP:0000615HP:0000615Abnormal pupil morphology0COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA064516472201120180
HP:0000615HP:0000615Abnormal pupil morphology0COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA015916302209120215
HP:0000615HP:0000615Abnormal pupil morphology0KRT25 CL E G H147183170ORPHA041630839616646
HP:0000615HP:0000615Abnormal pupil morphology0KRT71 CL E G H112802170ORPHA012228927608245
HP:0000615HP:0000615Abnormal pupil morphology0KRT74 CL E G H121391170ORPHA043528929608248
HP:0000615HP:0000615Abnormal pupil morphology0LIPH CL E G H200879170ORPHA0315218483607365
HP:0000615HP:0000615Abnormal pupil morphology0LPAR6 CL E G H10161170ORPHA0268615520609239
HP:0000615HP:0000615Abnormal pupil morphology0MAFB CL E G H9935233D ercole syndromeORPHA0251056408608968
HP:0000615HP:0000615Abnormal pupil morphology0NDP CL E G H4693649ORPHA01672077678300658
HP:0000615HP:0000615Abnormal pupil morphology0STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM02524211386605921
HP:0000615HP:0000615Abnormal pupil morphology1CHN1 CL E G H1123233D ercole syndromeORPHA0111111943118423
HP:0000615HP:0000615Abnormal pupil morphology1COL25A1 CL E G H84570233D ercole syndromeORPHA044118603610004
HP:0000615HP:0000615Abnormal pupil morphology1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA064516472201120180
HP:0000615HP:0000615Abnormal pupil morphology1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA015916302209120215
HP:0000615HP:0000615Abnormal pupil morphology1KRT25 CL E G H147183170ORPHA041630839616646
HP:0000615HP:0000615Abnormal pupil morphology1KRT71 CL E G H112802170ORPHA012228927608245
HP:0000615HP:0000615Abnormal pupil morphology1KRT74 CL E G H121391170ORPHA043528929608248
HP:0000615HP:0000615Abnormal pupil morphology1LIPH CL E G H200879170ORPHA0315218483607365
HP:0000615HP:0000615Abnormal pupil morphology1LPAR6 CL E G H10161170ORPHA0268615520609239
HP:0000615HP:0000615Abnormal pupil morphology1MAFB CL E G H9935233D ercole syndromeORPHA0251056408608968
HP:0000615HP:0000615Abnormal pupil morphology1NDP CL E G H4693649ORPHA01672077678300658
HP:0000615HP:0000615Abnormal pupil morphology1STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM02524211386605921
HP:0000615HP:0000615Abnormal pupil morphology2CHN1 CL E G H1123233D ercole syndromeORPHA0111111943118423
HP:0000615HP:0000615Abnormal pupil morphology2COL25A1 CL E G H84570233D ercole syndromeORPHA044118603610004
HP:0000615HP:0000615Abnormal pupil morphology2COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA064516472201120180
HP:0000615HP:0000615Abnormal pupil morphology2COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA015916302209120215
HP:0000615HP:0000615Abnormal pupil morphology2KRT25 CL E G H147183170ORPHA041630839616646
HP:0000615HP:0000615Abnormal pupil morphology2KRT71 CL E G H112802170ORPHA012228927608245
HP:0000615HP:0000615Abnormal pupil morphology2KRT74 CL E G H121391170ORPHA043528929608248
HP:0000615HP:0000615Abnormal pupil morphology2LIPH CL E G H200879170ORPHA0315218483607365
HP:0000615HP:0000615Abnormal pupil morphology2LPAR6 CL E G H10161170ORPHA0268615520609239
HP:0000615HP:0000615Abnormal pupil morphology2MAFB CL E G H9935233D ercole syndromeORPHA0251056408608968
HP:0000615HP:0000615Abnormal pupil morphology2NDP CL E G H4693649ORPHA01672077678300658
HP:0000615HP:0000615Abnormal pupil morphology2STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM02524211386605921


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 June 2019 release.