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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000616HP:0000616Miosis0CHRDL1 CL E G H9185129861OMIM:309300MEGALOCORNEA.9
HP:0000616HP:0000616Miosis0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0000616HP:0000616Miosis0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency.43
HP:0000616HP:0000616Miosis0DNMBP CL E G H2326830373OMIM:618415Cataract 48.
HP:0000616HP:0000616Miosis0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1199
HP:0000616HP:0000616Miosis0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000616HP:0000616Miosis0HHAT CL E G H5573318270ORPHA:1422Chondrodysplasia-disorder of sex development syndromeHP:0040282 - Frequent
HP:0000616HP:0000616Miosis0KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to202
HP:0000616HP:0000616Miosis0NOTCH2NLC CL E G H10099671753924OMIM:603472NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0000616HP:0000616Miosis0NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000616HP:0000616Miosis0ORAI1 CL E G H8487625896OMIM:615883Myopathy, tubular aggregate, 2.19
HP:0000616HP:0000616Miosis0ORAI1 CL E G H8487625896ORPHA:3204Stormorken-Sjaastad-Langslet syndromeHP:0040281 - Very frequent19
HP:0000616HP:0000616Miosis0PEX7 CL E G H51918860ORPHA:773Refsum diseaseHP:0040282 - Frequent72
HP:0000616HP:0000616Miosis0PEX7 CL E G H51918860OMIM:266500Refsum disease.72
HP:0000616HP:0000616Miosis0PHYH CL E G H52648940ORPHA:773Refsum diseaseHP:0040282 - Frequent45
HP:0000616HP:0000616Miosis0PHYH CL E G H52648940OMIM:266500Refsum disease.45
HP:0000616HP:0000616Miosis0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0000616HP:0000616Miosis0SIX6 CL E G H499010892OMIM:212550Optic disc anomalies with retinal and/or macular dystrophy.20
HP:0000616HP:0000616Miosis0STIM1 CL E G H678611386OMIM:185070Stormorken syndrome.31
HP:0000616HP:0000616Miosis0STIM1 CL E G H678611386ORPHA:3204Stormorken-Sjaastad-Langslet syndromeHP:0040281 - Very frequent31
HP:0000616HP:0000616Miosis0ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0000616HP:0002277Horner syndrome1COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0000616HP:0007728Congenital miosis1COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0000616HP:0002277Horner syndrome1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000616HP:0002277Horner syndrome1KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to.202
HP:0000616HP:0002277Horner syndrome1ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0000616HP:0007728Congenital miosis1ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0000616HP:0006837Congenital Horner syndrome2COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0000616HP:0006837Congenital Horner syndrome2GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000616HP:0006837Congenital Horner syndrome2ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis


Genes (16) :CHRDL1 COL25A1 DDC DNMBP ERCC6 GNB2 HHAT KIF1B NOTCH2NLC ORAI1 PEX7 PHYH RAB18 SIX6 STIM1 ZFHX4

Diseases (17) :OMIM:309300 ORPHA:91411 OMIM:608643 OMIM:618415 OMIM:214150 OMIM:619503 ORPHA:1422 OMIM:256700 OMIM:603472 OMIM:619473 OMIM:615883 ORPHA:3204 ORPHA:773 OMIM:266500 OMIM:614222 OMIM:212550 OMIM:185070
 

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