Human Phenotype Ontology 
Grandparent Node:
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Abnormal lens morphology (HP:0000517)help
Grandparent Node:
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Aplasia/Hypoplasia affecting the anterior segment of the eye (HP:0008062)help
Parent Node:
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Aplasia/Hypoplasia of the lens (HP:0008063)help
..Starting node
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Congenital aphakia (HP:0007707)help
Term ID: 7707
Name: Congenital aphakia
Synonym: Lens agenesis
Definition: Absence of the crystalline lens of the eye as a result of a developmental defect.
Comments:
Reference: HP:0007707
Genes and Diseases:
 
       Child Nodes:
........expandPseudophakia (HP:0500081) help

 Sister Nodes: 
..expandLens coloboma (HP:0100719) help
..expandMicrophakia (HP:0012376) help
..expandMicrospherophakia (HP:0030961) 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:0007707HP:0007707Congenital aphakia0CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathyHP:0040284 - Very rare
HP:0007707HP:0007707Congenital aphakia0FOXE3 CL E G H23013808OMIM:610256Anterior segment dysgenesis 2.23
HP:0007707HP:0007707Congenital aphakia0FOXE3 CL E G H23013808ORPHA:83461Congenital primary aphakiaHP:0040281 - Very frequent23
HP:0007707HP:0007707Congenital aphakia0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040283 - Occasional


Genes (3) :CYTB FOXE3 TONSL

Diseases (4) :ORPHA:137675 OMIM:610256 ORPHA:83461 ORPHA:93357
 

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