Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the eye (HP:0000478)help
Parent Node:
expand
Abnormal eye physiology (HP:0012373)help
..Starting node
..expand
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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007686HP:0007686Abnormal pupillary function0ACTA2 CL E G H59130OMIM:613834Multisystemic smooth muscle dysfunction syndrome94
HP:0007686HP:0007686Abnormal pupillary function0ATF6 CL E G H22926791ORPHA:49382Achromatopsia10
HP:0007686HP:0007686Abnormal pupillary function0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhood239
HP:0007686HP:0007686Abnormal pupillary function0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhood150
HP:0007686HP:0007686Abnormal pupillary function0BAP1 CL E G H8314950ORPHA:39044Uveal melanoma184
HP:0007686HP:0007686Abnormal pupillary function0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhood449
HP:0007686HP:0007686Abnormal pupillary function0CHRDL1 CL E G H9185129861OMIM:309300MEGALOCORNEA9
HP:0007686HP:0007686Abnormal pupillary function0CHRNA3 CL E G H11361957OMIM:191800URINARY BLADDER, ATONY OF4
HP:0007686HP:0007686Abnormal pupillary function0CNGA3 CL E G H12612150ORPHA:49382Achromatopsia82
HP:0007686HP:0007686Abnormal pupillary function0CNGB3 CL E G H547142153ORPHA:49382Achromatopsia194
HP:0007686HP:0007686Abnormal pupillary function0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0007686HP:0007686Abnormal pupillary function0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0007686HP:0007686Abnormal pupillary function0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromes90
HP:0007686HP:0007686Abnormal pupillary function0CYSLTR2 CL E G H5710518274ORPHA:39044Uveal melanoma1
HP:0007686HP:0007686Abnormal pupillary function0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0007686HP:0007686Abnormal pupillary function0DNMBP CL E G H2326830373OMIM:618415Cataract 48
HP:0007686HP:0007686Abnormal pupillary function0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1199
HP:0007686HP:0007686Abnormal pupillary function0GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0007686HP:0007686Abnormal pupillary function0GNA11 CL E G H27674379ORPHA:39044Uveal melanoma16
HP:0007686HP:0007686Abnormal pupillary function0GNAQ CL E G H27764390ORPHA:39044Uveal melanoma7
HP:0007686HP:0007686Abnormal pupillary function0GNAT2 CL E G H27804394ORPHA:49382Achromatopsia19
HP:0007686HP:0007686Abnormal pupillary function0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0007686HP:0007686Abnormal pupillary function0HHAT CL E G H5573318270ORPHA:1422Chondrodysplasia-disorder of sex development syndrome
HP:0007686HP:0007686Abnormal pupillary function0KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to202
HP:0007686HP:0007686Abnormal pupillary function0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromes92
HP:0007686HP:0007686Abnormal pupillary function0LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophy70
HP:0007686HP:0007686Abnormal pupillary function0LOXL1 CL E G H40166665OMIM:177650Exfoliation syndrome3
HP:0007686HP:0007686Abnormal pupillary function0LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophy62
HP:0007686HP:0007686Abnormal pupillary function0MPZ CL E G H43597225OMIM:118200Charcot-Marie-Tooth disease, demyelinating, type 1B134
HP:0007686HP:0007686Abnormal pupillary function0MPZ CL E G H43597225OMIM:607736Charcot-Marie-Tooth disease, type 2J134
HP:0007686HP:0007686Abnormal pupillary function0MYH11 CL E G H46297569OMIM:619351MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2418
HP:0007686HP:0007686Abnormal pupillary function0MYL9 CL E G H1039815754OMIM:619365MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0007686HP:0007686Abnormal pupillary function0NOTCH2NLC CL E G H10099671753924OMIM:603472NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0007686HP:0007686Abnormal pupillary function0NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0007686HP:0007686Abnormal pupillary function0ORAI1 CL E G H8487625896OMIM:615883Myopathy, tubular aggregate, 219
HP:0007686HP:0007686Abnormal pupillary function0ORAI1 CL E G H8487625896ORPHA:3204Stormorken-Sjaastad-Langslet syndrome19
HP:0007686HP:0007686Abnormal pupillary function0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0007686HP:0007686Abnormal pupillary function0PDE6C CL E G H51468787ORPHA:49382Achromatopsia80
HP:0007686HP:0007686Abnormal pupillary function0PDE6H CL E G H51498790ORPHA:49382Achromatopsia14
HP:0007686HP:0007686Abnormal pupillary function0PEX10 CL E G H51928851ORPHA:247815Autosomal recessive ataxia due to PEX10 deficiency75
HP:0007686HP:0007686Abnormal pupillary function0PEX7 CL E G H51918860ORPHA:773Refsum disease72
HP:0007686HP:0007686Abnormal pupillary function0PEX7 CL E G H51918860OMIM:266500Refsum disease72
HP:0007686HP:0007686Abnormal pupillary function0PHYH CL E G H52648940OMIM:266500Refsum disease45
HP:0007686HP:0007686Abnormal pupillary function0PHYH CL E G H52648940ORPHA:773Refsum disease45
HP:0007686HP:0007686Abnormal pupillary function0PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1E79
HP:0007686HP:0007686Abnormal pupillary function0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040283 - Occasional69
HP:0007686HP:0007686Abnormal pupillary function0PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0007686HP:0007686Abnormal pupillary function0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome49
HP:0007686HP:0007686Abnormal pupillary function0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe disease81
HP:0007686HP:0007686Abnormal pupillary function0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0007686HP:0007686Abnormal pupillary function0RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophy129
HP:0007686HP:0007686Abnormal pupillary function0RPGR CL E G H610310295ORPHA:49382Achromatopsia200
HP:0007686HP:0007686Abnormal pupillary function0SF3B1 CL E G H2345110768ORPHA:39044Uveal melanoma19
HP:0007686HP:0007686Abnormal pupillary function0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0007686HP:0007686Abnormal pupillary function0SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C493
HP:0007686HP:0007686Abnormal pupillary function0SIX6 CL E G H499010892OMIM:212550Optic disc anomalies with retinal and/or macular dystrophy20
HP:0007686HP:0007686Abnormal pupillary function0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhood63
HP:0007686HP:0007686Abnormal pupillary function0SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophy48
HP:0007686HP:0007686Abnormal pupillary function0STIM1 CL E G H678611386OMIM:185070Stormorken syndrome31
HP:0007686HP:0007686Abnormal pupillary function0STIM1 CL E G H678611386ORPHA:3204Stormorken-Sjaastad-Langslet syndrome31
HP:0007686HP:0007686Abnormal pupillary function0TMEM53 CL E G H7963926186OMIM:619727CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0007686HP:0007686Abnormal pupillary function0TULP1 CL E G H728712423OMIM:613843Leber congenital amaurosis 1566
HP:0007686HP:0007686Abnormal pupillary function0ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0007686HP:0011499Mydriasis1ACTA2 CL E G H59130OMIM:613834Multisystemic smooth muscle dysfunction syndrome.HP:0003577 - Congenital onset94
HP:0007686HP:0007695Abnormal pupillary light reflex1ATF6 CL E G H22926791ORPHA:49382AchromatopsiaHP:0040283 - Occasional10
HP:0007686HP:0011499Mydriasis1ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent239
HP:0007686HP:0011499Mydriasis1ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent150
HP:0007686HP:0011499Mydriasis1BAP1 CL E G H8314950ORPHA:39044Uveal melanomaHP:0040283 - Occasional184
HP:0007686HP:0011499Mydriasis1CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent449
HP:0007686HP:0000616Miosis1CHRDL1 CL E G H9185129861OMIM:309300MEGALOCORNEA.9
HP:0007686HP:0007695Abnormal pupillary light reflex1CHRNA3 CL E G H11361957OMIM:191800URINARY BLADDER, ATONY OF4
HP:0007686HP:0007695Abnormal pupillary light reflex1CNGA3 CL E G H12612150ORPHA:49382AchromatopsiaHP:0040283 - Occasional82
HP:0007686HP:0007695Abnormal pupillary light reflex1CNGB3 CL E G H547142153ORPHA:49382AchromatopsiaHP:0040283 - Occasional194
HP:0007686HP:0007695Abnormal pupillary light reflex1COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0007686HP:0000616Miosis1COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0007686HP:0007695Abnormal pupillary light reflex1COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromes90
HP:0007686HP:0011499Mydriasis1CYSLTR2 CL E G H5710518274ORPHA:39044Uveal melanomaHP:0040283 - Occasional1
HP:0007686HP:0000616Miosis1DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency.43
HP:0007686HP:0000616Miosis1DNMBP CL E G H2326830373OMIM:618415Cataract 48.
HP:0007686HP:0000616Miosis1ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1199
HP:0007686HP:0007695Abnormal pupillary light reflex1GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0007686HP:0011499Mydriasis1GNA11 CL E G H27674379ORPHA:39044Uveal melanomaHP:0040283 - Occasional16
HP:0007686HP:0011499Mydriasis1GNAQ CL E G H27764390ORPHA:39044Uveal melanomaHP:0040283 - Occasional7
HP:0007686HP:0007695Abnormal pupillary light reflex1GNAT2 CL E G H27804394ORPHA:49382AchromatopsiaHP:0040283 - Occasional19
HP:0007686HP:0000616Miosis1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0007686HP:0000616Miosis1HHAT CL E G H5573318270ORPHA:1422Chondrodysplasia-disorder of sex development syndromeHP:0040282 - Frequent
HP:0007686HP:0000616Miosis1KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to202
HP:0007686HP:0007695Abnormal pupillary light reflex1LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromes92
HP:0007686HP:0007695Abnormal pupillary light reflex1LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent70
HP:0007686HP:0011499Mydriasis1LOXL1 CL E G H40166665OMIM:177650Exfoliation syndrome.3
HP:0007686HP:0007695Abnormal pupillary light reflex1LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent62
HP:0007686HP:0012074Tonic pupil1MPZ CL E G H43597225OMIM:118200Charcot-Marie-Tooth disease, demyelinating, type 1B.134
HP:0007686HP:0007695Abnormal pupillary light reflex1MPZ CL E G H43597225OMIM:607736Charcot-Marie-Tooth disease, type 2J134
HP:0007686HP:0011499Mydriasis1MYH11 CL E G H46297569OMIM:619351MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2418
HP:0007686HP:0011499Mydriasis1MYL9 CL E G H1039815754OMIM:619365MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0007686HP:0000616Miosis1NOTCH2NLC CL E G H10099671753924OMIM:603472NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0007686HP:0000616Miosis1NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0007686HP:0000616Miosis1ORAI1 CL E G H8487625896OMIM:615883Myopathy, tubular aggregate, 2.19
HP:0007686HP:0000616Miosis1ORAI1 CL E G H8487625896ORPHA:3204Stormorken-Sjaastad-Langslet syndromeHP:0040281 - Very frequent19
HP:0007686HP:0011499Mydriasis1OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0007686HP:0007695Abnormal pupillary light reflex1PDE6C CL E G H51468787ORPHA:49382AchromatopsiaHP:0040283 - Occasional80
HP:0007686HP:0007695Abnormal pupillary light reflex1PDE6H CL E G H51498790ORPHA:49382AchromatopsiaHP:0040283 - Occasional14
HP:0007686HP:0011499Mydriasis1PEX10 CL E G H51928851ORPHA:247815Autosomal recessive ataxia due to PEX10 deficiencyHP:0040283 - Occasional75
HP:0007686HP:0000616Miosis1PEX7 CL E G H51918860ORPHA:773Refsum diseaseHP:0040282 - Frequent72
HP:0007686HP:0000616Miosis1PEX7 CL E G H51918860OMIM:266500Refsum disease.72
HP:0007686HP:0000616Miosis1PHYH CL E G H52648940ORPHA:773Refsum diseaseHP:0040282 - Frequent45
HP:0007686HP:0000616Miosis1PHYH CL E G H52648940OMIM:266500Refsum disease.45
HP:0007686HP:0012074Tonic pupil1PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040282 - Frequent79
HP:0007686HP:0007695Abnormal pupillary light reflex1PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1E79
HP:0007686HP:0012074Tonic pupil1PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0007686HP:0007695Abnormal pupillary light reflex1PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome49
HP:0007686HP:0007695Abnormal pupillary light reflex1PSAP CL E G H56609498ORPHA:206436Infantile Krabbe disease81
HP:0007686HP:0000616Miosis1RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0007686HP:0007695Abnormal pupillary light reflex1RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent129
HP:0007686HP:0007695Abnormal pupillary light reflex1RPGR CL E G H610310295ORPHA:49382AchromatopsiaHP:0040283 - Occasional200
HP:0007686HP:0011499Mydriasis1SF3B1 CL E G H2345110768ORPHA:39044Uveal melanomaHP:0040283 - Occasional19
HP:0007686HP:0007695Abnormal pupillary light reflex1SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040283 - Occasional493
HP:0007686HP:0007695Abnormal pupillary light reflex1SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C.493
HP:0007686HP:0000616Miosis1SIX6 CL E G H499010892OMIM:212550Optic disc anomalies with retinal and/or macular dystrophy.20
HP:0007686HP:0011499Mydriasis1SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent63
HP:0007686HP:0007695Abnormal pupillary light reflex1SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent48
HP:0007686HP:0000616Miosis1STIM1 CL E G H678611386OMIM:185070Stormorken syndrome.31
HP:0007686HP:0000616Miosis1STIM1 CL E G H678611386ORPHA:3204Stormorken-Sjaastad-Langslet syndromeHP:0040281 - Very frequent31
HP:0007686HP:0011499Mydriasis1TMEM53 CL E G H7963926186OMIM:619727CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0007686HP:0007695Abnormal pupillary light reflex1TULP1 CL E G H728712423OMIM:613843Leber congenital amaurosis 1566
HP:0007686HP:0000616Miosis1ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0007686HP:0007932Bilateral congenital mydriasis2 CL E G H
HP:0007686HP:0030211Slow pupillary light response2CHRNA3 CL E G H11361957OMIM:191800URINARY BLADDER, ATONY OF4
HP:0007686HP:0030211Slow pupillary light response2COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0007686HP:0002277Horner syndrome2COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0007686HP:0007728Congenital miosis2COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0007686HP:0030211Slow pupillary light response2COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040283 - Occasional90
HP:0007686HP:0030211Slow pupillary light response2GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional160
HP:0007686HP:0002277Horner syndrome2GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0007686HP:0002277Horner syndrome2KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to.202
HP:0007686HP:0030211Slow pupillary light response2LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040283 - Occasional92
HP:0007686HP:0030211Slow pupillary light response2MPZ CL E G H43597225OMIM:607736Charcot-Marie-Tooth disease, type 2J134
HP:0007686HP:0030211Slow pupillary light response2PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040282 - Frequent79
HP:0007686HP:0030211Slow pupillary light response2PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeHP:0040282 - Frequent49
HP:0007686HP:0030211Slow pupillary light response2PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional81
HP:0007686HP:0030211Slow pupillary light response2TULP1 CL E G H728712423OMIM:613843Leber congenital amaurosis 15.66
HP:0007686HP:0007728Congenital miosis2ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0007686HP:0002277Horner syndrome2ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0007686HP:0006837Congenital Horner syndrome3COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0007686HP:0006837Congenital Horner syndrome3GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0007686HP:0006837Congenital Horner syndrome3ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis


Genes (56) :ACTA2 ATF6 ATP1A2 ATP1A3 BAP1 CACNA1A CHRDL1 CHRNA3 CNGA3 CNGB3 COL18A1 COL25A1 COLQ CYSLTR2 DDC DNMBP ERCC6 GALC GNA11 GNAQ GNAT2 GNB2 HHAT KIF1B LAMB2 LCA5 LOXL1 LRAT MPZ MYH11 MYL9 NOTCH2NLC ORAI1 OSTM1 PDE6C PDE6H PEX10 PEX7 PHYH PMP22 PRNP PRORP PRPS1 PSAP RAB18 RPE65 RPGR SF3B1 SH3TC2 SIX6 SLC1A3 SPATA7 STIM1 TMEM53 TULP1 ZFHX4

Diseases (41) :OMIM:613834 ORPHA:49382 ORPHA:2131 ORPHA:39044 OMIM:309300 OMIM:191800 OMIM:267750 ORPHA:91411 ORPHA:98915 OMIM:608643 OMIM:618415 OMIM:214150 ORPHA:206436 OMIM:619503 ORPHA:1422 OMIM:256700 ORPHA:364055 OMIM:177650 OMIM:118200 OMIM:607736 OMIM:619351 OMIM:619365 OMIM:603472 OMIM:619473 OMIM:615883 ORPHA:3204 OMIM:259720 ORPHA:247815 ORPHA:773 OMIM:266500 ORPHA:90658 ORPHA:282166 OMIM:619737 ORPHA:423479 OMIM:614222 ORPHA:99949 OMIM:601596 OMIM:212550 OMIM:185070 OMIM:619727 OMIM:613843
 

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