Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the orbital region (HP:0000315)help
Parent Node:
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Aplasia/Hypoplasia of the lens (HP:0008063)help
Parent Node:
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Coloboma (HP:0000589)help
..Starting node
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Lens coloboma (HP:0100719)help
Term ID: 100719
Name: Lens coloboma
Synonym:
Definition: A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence.
Comments:
Reference: HP:0100719
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandChorioretinal coloboma (HP:0000567) help
..expandCiliary body coloboma (HP:0020006) help
..expandIris coloboma (HP:0000612) help
..expandOptic nerve coloboma (HP:0000588) help
..expandRetinal coloboma (HP:0000480) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100719HP:0100719Lens coloboma0FGF3 CL E G H22482791ORPHA020353681164950


Genes (1) :FGF3

Diseases (1) :2791
 

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