Human Phenotype Ontology 
Grandparent Node:
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Abnormal eyelid physiology (HP:0031879)help
Parent Node:
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Abnormal eyelid movement (HP:0031785)help
..Starting node
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Lid lag on downgaze (HP:0025605)help
Term ID: 25605
Name: Lid lag on downgaze
Synonym: Eyelid lag; Lid lag; von Graefe sign
Definition: Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign.
Comments:
Reference: HP:0025605
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCogan lid twitch (HP:0031786) help
..expandEyelid fasciculation (HP:0030826) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0025605HP:0025605Lid lag on downgaze0CLCN1 CL E G H1180160800Congenital myotonia, autosomal dominant form160800C2936781OMIM13172019118425
HP:0025605HP:0025605Lid lag on downgaze0CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM13172019118425
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (1) :CLCN1

Diseases (2) :160800 255700
 

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