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 pupillary function (HP:0007686)help
Term ID: 7686
Name: Abnormal pupillary function
Synonym:
Definition: A functional abnormality of the pupil.
Comments:
Reference: HP:0007686
Genes and Diseases:
 
       Child Nodes:
........expandMiosis (HP:0000616) help
................... HP:0002277 Horner syndrome
................... HP:0007728 Congenital miosis
........expandAbnormal pupillary light reflex (HP:0007695) help
................... HP:0030211 Slow pupillary light response
........expandMydriasis (HP:0011499) help
................... HP:0007932 Bilateral congenital mydriasis
........expandTonic pupil (HP:0012074) help

 Sister Nodes: 
..expandAbnormal extraocular muscle physiology (HP:0025590) help
..expandAbnormal eyelid physiology (HP:0031879) help
..expandAbnormal intraocular pressure (HP:0012632) 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:0007686HP:0007686Abnormal pupillary function0PRNP CL E G H5621282166ORPHA01091299449176640
HP:0007686HP:0007686Abnormal pupillary function1PRNP CL E G H5621282166ORPHA01091299449176640
HP:0007686HP:0007686Abnormal pupillary function2PRNP CL E G H5621282166ORPHA01091299449176640
HP:0007686HP:0007686Abnormal pupillary function3PRNP CL E G H5621282166ORPHA01091299449176640


Genes (23) :ACTA2 AP3D1 BAP1 CHRDL1 COLQ CYSLTR2 DDC GNA11 GNAQ HHAT LAMB2 MPZ NME1 ORAI1 PEX10 PEX7 PHYH PRNP SF3B1 SH3TC2 SIX6 STIM1 TULP1

Diseases (19) :282166 613834 284804 39044 309300 608643 1422 118200 3204 615883 247815 773 266500 601596 212550 185070 98915 256700 613843
 

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