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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Leukocoria (HP:0000555)help
Term ID: 555
Name: Leukocoria
Synonym: Leukokoria; White pupillary reflex
Definition: An abnormal white reflection from the pupil rather than the usual black reflection.
Comments:
Reference: HP:0000555
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal pupil shape (HP:0025309) help
..expandAnisocoria (HP:0009916) help
..expandEctopia pupillae (HP:0009918) help
..expandMicrocoria (HP:0025492) help
..expandPersistent pupillary membrane (HP:0009917) help
..expandPolycoria (HP:0011500) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000555HP:0000555Leukocoria0ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040282 - Frequent1
HP:0000555HP:0000555Leukocoria0ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0000555HP:0000555Leukocoria0ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive.4
HP:0000555HP:0000555Leukocoria0FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0000555HP:0000555Leukocoria0GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040282 - Frequent16
HP:0000555HP:0000555Leukocoria0NDP CL E G H46937678OMIM:310600Norrie disease39
HP:0000555HP:0000555Leukocoria0NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0000555HP:0000555Leukocoria0RB1 CL E G H59259884OMIM:180200RETINOBLASTOMA.365
HP:0000555HP:0000555Leukocoria0TINF2 CL E G H2627711824OMIM:268130Revesz syndrome.60


Genes (7) :ARL6IP6 ATOH7 FZD4 GNA11 NDP RB1 TINF2

Diseases (6) :ORPHA:1556 ORPHA:91495 OMIM:221900 OMIM:310600 OMIM:180200 OMIM:268130
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.