Human Phenotype Ontology 
Grandparent Node:
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Abnormality of eye movement (HP:0000496)help
Parent Node:
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Ophthalmoparesis (HP:0000597)help
..Starting node
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Setting-sun eye phenomenon (HP:0012470)help
Term ID: 12470
Name: Setting-sun eye phenomenon
Synonym: Eyes fixed downward; Setting-sun eye phenomenon; Sun setting eyes; Sunsetting eye
Definition: An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid.
Comments:
Reference: HP:0012470
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandOculomotor nerve palsy (HP:0012246) help
..expandOphthalmoplegia (HP:0000602) help
..expandStatic ophthalmoparesis (HP:0008507) help
..expandWeak extraocular muscles (HP:0007715) 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:0012470HP:0012470Setting-sun eye phenomenon0COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22


Genes (1) :COX16

Diseases (1) :OMIM:619355
 

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