Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the eye (HP:0000478)help
Parent Node:
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Abnormal eye physiology (HP:0012373)help
..Starting node
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Abnormal eyelid physiology (HP:0031879)help
Term ID: 31879
Name: Abnormal eyelid physiology
Synonym:
Definition: Any functional abnormality of the eyelid.
Comments:
Reference: HP:0031879
Genes and Diseases:
 
       Child Nodes:
........expandAbnormal eyelid movement (HP:0031785) help
................... HP:0025605 Lid lag on downgaze
................... HP:0030826 Eyelid fasciculation
................... HP:0031786 Cogan lid twitch
........expandEyelid laxity (HP:0031880) help

 Sister Nodes: 
..expandAbnormal extraocular muscle physiology (HP:0025590) help
..expandAbnormal intraocular pressure (HP:0012632) help
..expandAbnormal pupillary function (HP:0007686) help
..expandAbnormal visual accommodation (HP:0030800) help
..expandAbnormal visual electrophysiology (HP:0030453) help
..expandAbnormality of eye movement (HP:0000496) help
..expandAbnormality of refraction (HP:0000539) help
..expandAbnormality of vision (HP:0000504) help
..expandAsthenopia (HP:0031590) help
..expandCongenital stationary cone dysfunction (HP:0030637) help
..expandGlaucoma (HP:0000501) help
..expandHemorrhage of the eye (HP:0011885) help
..expandInflammatory abnormality of the eye (HP:0100533) help
..expandLacrimation abnormality (HP:0000632) help
..expandOcular pain (HP:0200026) help
..expandPtosis (HP:0000508) help
..expandStaring gaze (HP:0025401) 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:0031879HP:0031879Abnormal eyelid physiology0 CL E G H
HP:0031879HP:0031785Abnormal eyelid movement1 CL E G H
HP:0031879HP:0000643Blepharospasm1 CL E G H
HP:0031879HP:0031880Eyelid laxity1 CL E G H
HP:0031879HP:0000658Eyelid apraxia1 CL E G H
HP:0031879HP:0032032Horizontal eyelid laxity2 CL E G H
HP:0031879HP:0032034Upper eyelid laxity2 CL E G H
HP:0031879HP:0032029Floppy eyelid2 CL E G H
HP:0031879HP:0032031Medial canthal tendon laxity2 CL E G H
HP:0031879HP:0025605Lid lag on downgaze2 CL E G H
HP:0031879HP:0032035Lower eyelid laxity2 CL E G H
HP:0031879HP:0030826Eyelid fasciculation2 CL E G H
HP:0031879HP:0032030Lateral canthal tendon laxity2 CL E G H
HP:0031879HP:0032033Vertical eyelid laxity2 CL E G H
HP:0031879HP:0031786Cogan lid twitch2 CL E G H


Genes (32) :AARS ADRA2B ANO3 ATN1 ATP13A2 CACNA1A CHN1 CLCN1 COL25A1 CP FGFR2 FGFR3 FTL HPCA HSPG2 KCTD17 MAFB MAPT PANK2 PARK7 PLA2G6 POLR1C POLR1D SCN4A SYNJ1 TAF1 TBP TCOF1 THAP1 TOR1A TUBB4A TWIST1

Diseases (29) :616339 607876 420485 615034 101 306674 98758 233 48818 794 606159 99657 224500 800 616398 601104 234200 606324 199351 861 99734 615530 53351 98759 98806 128100 98805 160800 255700
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.