Human Phenotype Ontology 
Grandparent Node:
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Abnormality iris morphology (HP:0000525)help
Parent Node:
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Abnormal pupil morphology (HP:0000615)help
..Starting node
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Ectopia pupillae (HP:0009918)help
Term ID: 9918
Name: Ectopia pupillae
Synonym: Corectopia; Displaced pupil
Definition: A malposition of the pupil owing to a developmental defect of the iris.
Comments:
Reference: HP:0009918
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal pupil shape (HP:0025309) help
..expandAnisocoria (HP:0009916) help
..expandLeukocoria (HP:0000555) help
..expandMicrocoria (HP:0025492) help
..expandPersistent pupillary membrane (HP:0009917) help
..expandPolycoria (HP:0011500) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0009918HP:0009918Ectopia pupillae0CPAMD8 CL E G H27151617319Anterior segment dysgenesis 8617319C4310622OMIM165823228608841
HP:0009918HP:0009918Ectopia pupillae0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM131432309605032
HP:0009918HP:0009918Ectopia pupillae0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM111642494602618
HP:0009918HP:0009918Ectopia pupillae0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM171993693605830
HP:0009918HP:0009918Ectopia pupillae0FOXC1 CL E G H2296601631Anterior segment dysgenesis 3601631C1866560OMIM11392153800601090
HP:0009918HP:0009918Ectopia pupillae0FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM11392153800601090
HP:0009918HP:0009918Ectopia pupillae0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM141756556604407
HP:0009918HP:0009918Ectopia pupillae0MAB21L2 CL E G H10586615877Microphthalmia/coloboma and skeletal dysplasia syndrome615877C4014540OMIM19426758604357
HP:0009918HP:0009918Ectopia pupillae0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM11422012766602952
HP:0009918HP:0009918Ectopia pupillae0TBX2 CL E G H6909618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION618223OMIM1155311597600747
HP:0009918HP:0009918Ectopia pupillae0WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009918HP:0009918Ectopia pupillae0ADAMTSL4 CL E G H545071885Distal myopathyC0751336ORPHA02718019706610113
HP:0009918HP:0009918Ectopia pupillae0COL4A1 CL E G H1282607595Brain small vessel disease with hemorrhage607595C1843512OMIM01144982202120130
HP:0009918HP:0009918Ectopia pupillae0FBN1 CL E G H22001885Distal myopathyC0751336ORPHA0272142843603134797
HP:0009918HP:0009918Ectopia pupillae0GRHL2 CL E G H79977618031CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4618031CN248531OMIM013962799608576
HP:0009918HP:0009918Ectopia pupillae0OVOL2 CL E G H58495122000Posterior polymorphous corneal dystrophy 1122000CN029625OMIM042815804616441


Genes (15) :ADAMTSL4 COL4A1 CPAMD8 CPLX1 CTBP1 FBN1 FGFRL1 FOXC1 GRHL2 LETM1 MAB21L2 NSD2 OVOL2 TBX2 WHCR

Diseases (10) :1885 607595 617319 194190 601631 602482 618031 615877 122000 618223
 

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