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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000555HP:0000555Leukocoria0ARL6IP6 CL E G H1511881556ORPHA131924048616495
HP:0000555HP:0000555Leukocoria0ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM194113907609875
HP:0000555HP:0000555Leukocoria0RB1 CL E G H5925180200Retinoblastoma180200C0035335OMIM1111311959884614041
HP:0000555HP:0000555Leukocoria0TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM14216511824604319
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (4) :ARL6IP6 ATOH7 RB1 TINF2

Diseases (4) :1556 221900 180200 268130
 

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