Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Parent Node:
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Abnormal pupillary function (HP:0007686)help
..Starting node
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Miosis (HP:0000616)help
Term ID: 616
Name: Miosis
Synonym: Constricted pupils; Pupillary constriction
Definition: Abnormal (non-physiological) constriction of the pupil.
Comments:
Reference: HP:0000616
Genes and Diseases:
 
       Child Nodes:
........expandHorner syndrome (HP:0002277) help
................... HP:0006837 Congenital Horner syndrome
........expandCongenital miosis (HP:0007728) help

 Sister Nodes: 
..expandAbnormal pupillary light reflex (HP:0007695) help
..expandMydriasis (HP:0011499) help
..expandTonic pupil (HP:0012074) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000616HP:0000616Miosis0AP3D1 CL E G H8943284804ORPHA1226568607246
HP:0000616HP:0000616Miosis0AP3D1 CL E G H8943284804ORPHA1394568607246
HP:0000616HP:0000616Miosis0CHRDL1 CL E G H91851309300Megalocornea309300C0344530OMIM119729861300350
HP:0000616HP:0000616Miosis0CHRDL1 CL E G H91851309300Megalocornea309300C0344530OMIM120029861300350
HP:0000616HP:0000616Miosis0DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM12202719107930
HP:0000616HP:0000616Miosis0DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM13002719107930
HP:0000616HP:0000616Miosis0HHAT CL E G H557331422Cohen Hayden syndromeORPHA15618270605743
HP:0000616HP:0000616Miosis0HHAT CL E G H557331422Cohen Hayden syndromeORPHA16218270605743
HP:0000616HP:0000616Miosis0ORAI1 CL E G H848763204ORPHA116225896610277
HP:0000616HP:0000616Miosis0ORAI1 CL E G H848763204ORPHA122825896610277
HP:0000616HP:0000616Miosis0ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM116225896610277
HP:0000616HP:0000616Miosis0ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM122825896610277
HP:0000616HP:0000616Miosis0PEX7 CL E G H5191773ORPHA13108860601757
HP:0000616HP:0000616Miosis0PEX7 CL E G H5191773ORPHA13638860601757
HP:0000616HP:0000616Miosis0PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM13108860601757
HP:0000616HP:0000616Miosis0PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM13638860601757
HP:0000616HP:0000616Miosis0PHYH CL E G H5264773ORPHA12018940602026
HP:0000616HP:0000616Miosis0PHYH CL E G H5264773ORPHA12608940602026
HP:0000616HP:0000616Miosis0PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM12018940602026
HP:0000616HP:0000616Miosis0PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM12608940602026
HP:0000616HP:0000616Miosis0SIX6 CL E G H4990212550Cataract, microphthalmia and nystagmus212550C1859311OMIM16210892606326
HP:0000616HP:0000616Miosis0SIX6 CL E G H4990212550Cataract, microphthalmia and nystagmus212550C1859311OMIM16910892606326
HP:0000616HP:0000616Miosis0STIM1 CL E G H67863204ORPHA137911386605921
HP:0000616HP:0000616Miosis0STIM1 CL E G H67863204ORPHA145211386605921
HP:0000616HP:0000616Miosis0STIM1 CL E G H6786185070Stormorken syndrome185070C1861451OMIM137911386605921
HP:0000616HP:0000616Miosis0STIM1 CL E G H6786185070Stormorken syndrome185070C1861451OMIM145211386605921
HP:0000616HP:0002277Horner syndrome1AP3D1 CL E G H8943284804ORPHA1226568607246
HP:0000616HP:0007728Congenital miosis1AP3D1 CL E G H8943284804ORPHA1394568607246
HP:0000616HP:0007728Congenital miosis1AP3D1 CL E G H8943284804ORPHA1226568607246
HP:0000616HP:0002277Horner syndrome1AP3D1 CL E G H8943284804ORPHA1394568607246
HP:0000616HP:0002277Horner syndrome1CHRDL1 CL E G H91851309300Megalocornea309300C0344530OMIM119729861300350
HP:0000616HP:0007728Congenital miosis1CHRDL1 CL E G H91851309300Megalocornea309300C0344530OMIM120029861300350
HP:0000616HP:0007728Congenital miosis1CHRDL1 CL E G H91851309300Megalocornea309300C0344530OMIM119729861300350
HP:0000616HP:0002277Horner syndrome1CHRDL1 CL E G H91851309300Megalocornea309300C0344530OMIM120029861300350
HP:0000616HP:0002277Horner syndrome1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM12202719107930
HP:0000616HP:0007728Congenital miosis1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM13002719107930
HP:0000616HP:0007728Congenital miosis1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM12202719107930
HP:0000616HP:0002277Horner syndrome1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM13002719107930
HP:0000616HP:0002277Horner syndrome1HHAT CL E G H557331422Cohen Hayden syndromeORPHA15618270605743
HP:0000616HP:0007728Congenital miosis1HHAT CL E G H557331422Cohen Hayden syndromeORPHA16218270605743
HP:0000616HP:0007728Congenital miosis1HHAT CL E G H557331422Cohen Hayden syndromeORPHA15618270605743
HP:0000616HP:0002277Horner syndrome1HHAT CL E G H557331422Cohen Hayden syndromeORPHA16218270605743
HP:0000616HP:0002277Horner syndrome1ORAI1 CL E G H848763204ORPHA116225896610277
HP:0000616HP:0007728Congenital miosis1ORAI1 CL E G H848763204ORPHA122825896610277
HP:0000616HP:0007728Congenital miosis1ORAI1 CL E G H848763204ORPHA116225896610277
HP:0000616HP:0002277Horner syndrome1ORAI1 CL E G H848763204ORPHA122825896610277
HP:0000616HP:0002277Horner syndrome1ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM116225896610277
HP:0000616HP:0007728Congenital miosis1ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM122825896610277
HP:0000616HP:0007728Congenital miosis1ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM116225896610277
HP:0000616HP:0002277Horner syndrome1ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM122825896610277
HP:0000616HP:0002277Horner syndrome1PEX7 CL E G H5191773ORPHA13108860601757
HP:0000616HP:0007728Congenital miosis1PEX7 CL E G H5191773ORPHA13638860601757
HP:0000616HP:0007728Congenital miosis1PEX7 CL E G H5191773ORPHA13108860601757
HP:0000616HP:0002277Horner syndrome1PEX7 CL E G H5191773ORPHA13638860601757
HP:0000616HP:0002277Horner syndrome1PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM13108860601757
HP:0000616HP:0007728Congenital miosis1PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM13638860601757
HP:0000616HP:0007728Congenital miosis1PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM13108860601757
HP:0000616HP:0002277Horner syndrome1PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM13638860601757
HP:0000616HP:0002277Horner syndrome1PHYH CL E G H5264773ORPHA12018940602026
HP:0000616HP:0007728Congenital miosis1PHYH CL E G H5264773ORPHA12608940602026
HP:0000616HP:0007728Congenital miosis1PHYH CL E G H5264773ORPHA12018940602026
HP:0000616HP:0002277Horner syndrome1PHYH CL E G H5264773ORPHA12608940602026
HP:0000616HP:0002277Horner syndrome1PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM12018940602026
HP:0000616HP:0007728Congenital miosis1PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM12608940602026
HP:0000616HP:0007728Congenital miosis1PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM12018940602026
HP:0000616HP:0002277Horner syndrome1PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM12608940602026
HP:0000616HP:0002277Horner syndrome1SIX6 CL E G H4990212550Cataract, microphthalmia and nystagmus212550C1859311OMIM16210892606326
HP:0000616HP:0007728Congenital miosis1SIX6 CL E G H4990212550Cataract, microphthalmia and nystagmus212550C1859311OMIM16910892606326
HP:0000616HP:0007728Congenital miosis1SIX6 CL E G H4990212550Cataract, microphthalmia and nystagmus212550C1859311OMIM16210892606326
HP:0000616HP:0002277Horner syndrome1SIX6 CL E G H4990212550Cataract, microphthalmia and nystagmus212550C1859311OMIM16910892606326
HP:0000616HP:0002277Horner syndrome1STIM1 CL E G H67863204ORPHA137911386605921
HP:0000616HP:0007728Congenital miosis1STIM1 CL E G H67863204ORPHA145211386605921
HP:0000616HP:0007728Congenital miosis1STIM1 CL E G H67863204ORPHA137911386605921
HP:0000616HP:0002277Horner syndrome1STIM1 CL E G H67863204ORPHA145211386605921
HP:0000616HP:0002277Horner syndrome1STIM1 CL E G H6786185070Stormorken syndrome185070C1861451OMIM137911386605921
HP:0000616HP:0007728Congenital miosis1STIM1 CL E G H6786185070Stormorken syndrome185070C1861451OMIM145211386605921
HP:0000616HP:0007728Congenital miosis1STIM1 CL E G H6786185070Stormorken syndrome185070C1861451OMIM137911386605921
HP:0000616HP:0002277Horner syndrome1STIM1 CL E G H6786185070Stormorken syndrome185070C1861451OMIM145211386605921
HP:0000616HP:0006837Congenital Horner syndrome2AP3D1 CL E G H8943284804ORPHA1394568607246
HP:0000616HP:0006837Congenital Horner syndrome2AP3D1 CL E G H8943284804ORPHA1226568607246
HP:0000616HP:0006837Congenital Horner syndrome2CHRDL1 CL E G H91851309300Megalocornea309300C0344530OMIM120029861300350
HP:0000616HP:0006837Congenital Horner syndrome2CHRDL1 CL E G H91851309300Megalocornea309300C0344530OMIM119729861300350
HP:0000616HP:0006837Congenital Horner syndrome2DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM13002719107930
HP:0000616HP:0006837Congenital Horner syndrome2DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM12202719107930
HP:0000616HP:0006837Congenital Horner syndrome2HHAT CL E G H557331422Cohen Hayden syndromeORPHA16218270605743
HP:0000616HP:0006837Congenital Horner syndrome2HHAT CL E G H557331422Cohen Hayden syndromeORPHA15618270605743
HP:0000616HP:0006837Congenital Horner syndrome2ORAI1 CL E G H848763204ORPHA122825896610277
HP:0000616HP:0006837Congenital Horner syndrome2ORAI1 CL E G H848763204ORPHA116225896610277
HP:0000616HP:0006837Congenital Horner syndrome2ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM122825896610277
HP:0000616HP:0006837Congenital Horner syndrome2ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM116225896610277
HP:0000616HP:0006837Congenital Horner syndrome2PEX7 CL E G H5191773ORPHA13638860601757
HP:0000616HP:0006837Congenital Horner syndrome2PEX7 CL E G H5191773ORPHA13108860601757
HP:0000616HP:0006837Congenital Horner syndrome2PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM13638860601757
HP:0000616HP:0006837Congenital Horner syndrome2PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM13108860601757
HP:0000616HP:0006837Congenital Horner syndrome2PHYH CL E G H5264773ORPHA12608940602026
HP:0000616HP:0006837Congenital Horner syndrome2PHYH CL E G H5264773ORPHA12018940602026
HP:0000616HP:0006837Congenital Horner syndrome2PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM12608940602026
HP:0000616HP:0006837Congenital Horner syndrome2PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM12018940602026
HP:0000616HP:0006837Congenital Horner syndrome2SIX6 CL E G H4990212550Cataract, microphthalmia and nystagmus212550C1859311OMIM16910892606326
HP:0000616HP:0006837Congenital Horner syndrome2SIX6 CL E G H4990212550Cataract, microphthalmia and nystagmus212550C1859311OMIM16210892606326
HP:0000616HP:0006837Congenital Horner syndrome2STIM1 CL E G H67863204ORPHA145211386605921
HP:0000616HP:0006837Congenital Horner syndrome2STIM1 CL E G H67863204ORPHA137911386605921
HP:0000616HP:0006837Congenital Horner syndrome2STIM1 CL E G H6786185070Stormorken syndrome185070C1861451OMIM145211386605921
HP:0000616HP:0006837Congenital Horner syndrome2STIM1 CL E G H6786185070Stormorken syndrome185070C1861451OMIM137911386605921
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (10) :AP3D1 CHRDL1 DDC HHAT NME1 ORAI1 PEX7 PHYH SIX6 STIM1

Diseases (11) :284804 309300 608643 1422 3204 615883 773 266500 212550 185070 256700
 

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