Human Phenotype Ontology 
Grandparent Node:
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Abnormality of globe size (HP:0100887)help
Grandparent Node:
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Aplasia/Hypoplasia affecting the eye (HP:0008056)help
Parent Node:
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Anophthalmia (HP:0000528)help
..Starting node
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True anophthalmia (HP:0011478)help
Term ID: 11478
Name: True anophthalmia
Synonym: Complete anophthalmia; Completely missing eyeball; Total anophthalmia
Definition: Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination.
Comments:
Reference: HP:0011478
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011478HP:0011478True anophthalmia0ALDH1A3 CL E G H220409OMIM:615113Microphthalmia, isolated 810
HP:0011478HP:0011478True anophthalmia0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040281 - Very frequent15


Genes (2) :ALDH1A3 SMOC1

Diseases (2) :OMIM:615113 ORPHA:1106
 

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