Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | ACTA2 CL E G H | 59 | 130 | OMIM:613834 | Multisystemic smooth muscle dysfunction syndrome | | | | 94 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | ATF6 CL E G H | 22926 | 791 | ORPHA:49382 | Achromatopsia | | | | 10 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 239 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 150 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:39044 | Uveal melanoma | | | | 184 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 449 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | CHRDL1 CL E G H | 91851 | 29861 | OMIM:309300 | MEGALOCORNEA | | | | 9 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | CHRNA3 CL E G H | 1136 | 1957 | OMIM:191800 | URINARY BLADDER, ATONY OF | | | | 4 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | CNGA3 CL E G H | 1261 | 2150 | ORPHA:49382 | Achromatopsia | | | | 82 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:49382 | Achromatopsia | | | | 194 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:91411 | Congenital ptosis | | | | 3 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | | | | 90 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | CYSLTR2 CL E G H | 57105 | 18274 | ORPHA:39044 | Uveal melanoma | | | | 1 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | DDC CL E G H | 1644 | 2719 | OMIM:608643 | Aromatic L-amino acid decarboxylase deficiency | | | | 43 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | DNMBP CL E G H | 23268 | 30373 | OMIM:618415 | Cataract 48 | | | | | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | | | | 199 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | | | | 160 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:39044 | Uveal melanoma | | | | 16 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:39044 | Uveal melanoma | | | | 7 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | GNAT2 CL E G H | 2780 | 4394 | ORPHA:49382 | Achromatopsia | | | | 19 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | HHAT CL E G H | 55733 | 18270 | ORPHA:1422 | Chondrodysplasia-disorder of sex development syndrome | | | | | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:256700 | Neuroblastoma, susceptibility to | | | | 202 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | | | | 92 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 70 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | LOXL1 CL E G H | 4016 | 6665 | OMIM:177650 | Exfoliation syndrome | | | | 3 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 62 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:118200 | Charcot-Marie-Tooth disease, demyelinating, type 1B | | | | 134 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:607736 | Charcot-Marie-Tooth disease, type 2J | | | | 134 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | MYH11 CL E G H | 4629 | 7569 | OMIM:619351 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2 | | | | 418 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | MYL9 CL E G H | 10398 | 15754 | OMIM:619365 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4 | | | | | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:603472 | NEURONAL INTRANUCLEAR INCLUSION DISEASE | | | | | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:619473 | OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3 | | | | | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | ORAI1 CL E G H | 84876 | 25896 | OMIM:615883 | Myopathy, tubular aggregate, 2 | | | | 19 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | ORAI1 CL E G H | 84876 | 25896 | ORPHA:3204 | Stormorken-Sjaastad-Langslet syndrome | | | | 19 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | | | | 73 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | PDE6C CL E G H | 5146 | 8787 | ORPHA:49382 | Achromatopsia | | | | 80 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | PDE6H CL E G H | 5149 | 8790 | ORPHA:49382 | Achromatopsia | | | | 14 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:247815 | Autosomal recessive ataxia due to PEX10 deficiency | | | | 75 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | PEX7 CL E G H | 5191 | 8860 | ORPHA:773 | Refsum disease | | | | 72 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | PEX7 CL E G H | 5191 | 8860 | OMIM:266500 | Refsum disease | | | | 72 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | PHYH CL E G H | 5264 | 8940 | ORPHA:773 | Refsum disease | | | | 45 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | PHYH CL E G H | 5264 | 8940 | OMIM:266500 | Refsum disease | | | | 45 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | | | | 79 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | HP:0040283 - Occasional | | | 69 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | | | | 49 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | | | | 81 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | | | | 85 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 129 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:49382 | Achromatopsia | | | | 200 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:39044 | Uveal melanoma | | | | 19 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | | | | 493 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:601596 | Charcot-Marie-Tooth disease, type 4C | | | | 493 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | SIX6 CL E G H | 4990 | 10892 | OMIM:212550 | Optic disc anomalies with retinal and/or macular dystrophy | | | | 20 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 63 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 48 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:185070 | Stormorken syndrome | | | | 31 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | STIM1 CL E G H | 6786 | 11386 | ORPHA:3204 | Stormorken-Sjaastad-Langslet syndrome | | | | 31 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | TMEM53 CL E G H | 79639 | 26186 | OMIM:619727 | CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI | | | | | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | TULP1 CL E G H | 7287 | 12423 | OMIM:613843 | Leber congenital amaurosis 15 | | | | 66 | | |
HP:0007686 | HP:0007686 | Abnormal pupillary function | 0 | ZFHX4 CL E G H | 79776 | 30939 | ORPHA:91411 | Congenital ptosis | | | | | | |
HP:0007686 | HP:0011499 | Mydriasis | 1 | ACTA2 CL E G H | 59 | 130 | OMIM:613834 | Multisystemic smooth muscle dysfunction syndrome | . | HP:0003577 - Congenital onset | | 94 | | |
HP:0007686 | HP:0007695 | Abnormal pupillary light reflex | 1 | ATF6 CL E G H | 22926 | 791 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 10 | | |
HP:0007686 | HP:0011499 | Mydriasis | 1 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 239 | | |
HP:0007686 | HP:0011499 | Mydriasis | 1 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 150 | | |
HP:0007686 | HP:0011499 | Mydriasis | 1 | BAP1 CL E G H | 8314 | 950 | ORPHA:39044 | Uveal melanoma | HP:0040283 - Occasional | | | 184 | | |
HP:0007686 | HP:0011499 | Mydriasis | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 449 | | |
HP:0007686 | HP:0000616 | Miosis | 1 | CHRDL1 CL E G H | 91851 | 29861 | OMIM:309300 | MEGALOCORNEA | . | | | 9 | | |
HP:0007686 | HP:0007695 | Abnormal pupillary light reflex | 1 | CHRNA3 CL E G H | 1136 | 1957 | OMIM:191800 | URINARY BLADDER, ATONY OF | | | | 4 | | |
HP:0007686 | HP:0007695 | Abnormal pupillary light reflex | 1 | CNGA3 CL E G H | 1261 | 2150 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 82 | | |
HP:0007686 | HP:0007695 | Abnormal pupillary light reflex | 1 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 194 | | |
HP:0007686 | HP:0007695 | Abnormal pupillary light reflex | 1 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0007686 | HP:0000616 | Miosis | 1 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:91411 | Congenital ptosis | | | | 3 | | |
HP:0007686 | HP:0007695 | Abnormal pupillary light reflex | 1 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | | | | 90 | | |
HP:0007686 | HP:0011499 | Mydriasis | 1 | CYSLTR2 CL E G H | 57105 | 18274 | ORPHA:39044 | Uveal melanoma | HP:0040283 - Occasional | | | 1 | | |
HP:0007686 | HP:0000616 | Miosis | 1 | DDC CL E G H | 1644 | 2719 | OMIM:608643 | Aromatic L-amino acid decarboxylase deficiency | . | | | 43 | | |
HP:0007686 | HP:0000616 | Miosis | 1 | DNMBP CL E G H | 23268 | 30373 | OMIM:618415 | Cataract 48 | . | | | | | |
HP:0007686 | HP:0000616 | Miosis | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | | | | 199 | | |
HP:0007686 | HP:0007695 | Abnormal pupillary light reflex | 1 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | | | | 160 | | |
HP:0007686 | HP:0011499 | Mydriasis | 1 | GNA11 CL E G H | 2767 | 4379 | ORPHA:39044 | Uveal melanoma | HP:0040283 - Occasional | | | 16 | | |
HP:0007686 | HP:0011499 | Mydriasis | 1 | GNAQ CL E G H | 2776 | 4390 | ORPHA:39044 | Uveal melanoma | HP:0040283 - Occasional | | | 7 | | |
HP:0007686 | HP:0007695 | Abnormal pupillary light reflex | 1 | GNAT2 CL E G H | 2780 | 4394 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 19 | | |
HP:0007686 | HP:0000616 | Miosis | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0007686 | HP:0000616 | Miosis | 1 | HHAT CL E G H | 55733 | 18270 | ORPHA:1422 | Chondrodysplasia-disorder of sex development syndrome | HP:0040282 - Frequent | | | | | |
HP:0007686 | HP:0000616 | Miosis | 1 | KIF1B CL E G H | 23095 | 16636 | OMIM:256700 | Neuroblastoma, susceptibility to | | | | 202 | | |
HP:0007686 | HP:0007695 | Abnormal pupillary light reflex | 1 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | | | | 92 | | |
HP:0007686 | HP:0007695 | Abnormal pupillary light reflex | 1 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 70 | | |
HP:0007686 | HP:0011499 | Mydriasis | 1 | LOXL1 CL E G H | 4016 | 6665 | OMIM:177650 | Exfoliation syndrome | . | | | 3 | | |
HP:0007686 | HP:0007695 | Abnormal pupillary light reflex | 1 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 62 | | |
HP:0007686 | HP:0012074 | Tonic pupil | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:118200 | Charcot-Marie-Tooth disease, demyelinating, type 1B | . | | | 134 | | |
HP:0007686 | HP:0007695 | Abnormal pupillary light reflex | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:607736 | Charcot-Marie-Tooth disease, type 2J | | | | 134 | | |
HP:0007686 | HP:0011499 | Mydriasis | 1 | MYH11 CL E G H | 4629 | 7569 | OMIM:619351 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2 | | | | 418 | | |
HP:0007686 | HP:0011499 | Mydriasis | 1 | MYL9 CL E G H | 10398 | 15754 | OMIM:619365 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4 | | | | | | |
HP:0007686 | HP:0000616 | Miosis | 1 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:603472 | NEURONAL INTRANUCLEAR INCLUSION DISEASE | | | | | | |
HP:0007686 | HP:0000616 | Miosis | 1 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:619473 | OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3 | | | | | | |
HP:0007686 | HP:0000616 | Miosis | 1 | ORAI1 CL E G H | 84876 | 25896 | OMIM:615883 | Myopathy, tubular aggregate, 2 | . | | | 19 | | |
HP:0007686 | HP:0000616 | Miosis | 1 | ORAI1 CL E G H | 84876 | 25896 | ORPHA:3204 | Stormorken-Sjaastad-Langslet syndrome | HP:0040281 - Very frequent | | | 19 | | |
HP:0007686 | HP:0011499 | Mydriasis | 1 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | | | | 73 | | |
HP:0007686 | HP:0007695 | Abnormal pupillary light reflex | 1 | PDE6C CL E G H | 5146 | 8787 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 80 | | |
HP:0007686 | HP:0007695 | Abnormal pupillary light reflex | 1 | PDE6H CL E G H | 5149 | 8790 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 14 | | |
HP:0007686 | HP:0011499 | Mydriasis | 1 | PEX10 CL E G H | 5192 | 8851 | ORPHA:247815 | Autosomal recessive ataxia due to PEX10 deficiency | HP:0040283 - Occasional | | | 75 | | |
HP:0007686 | HP:0000616 | Miosis | 1 | PEX7 CL E G H | 5191 | 8860 | OMIM:266500 | Refsum disease | . | | | 72 | | |
HP:0007686 | HP:0000616 | Miosis | 1 | PEX7 CL E G H | 5191 | 8860 | ORPHA:773 | Refsum disease | HP:0040282 - Frequent | | | 72 | | |
HP:0007686 | HP:0000616 | Miosis | 1 | PHYH CL E G H | 5264 | 8940 | ORPHA:773 | Refsum disease | HP:0040282 - Frequent | | | 45 | | |
HP:0007686 | HP:0000616 | Miosis | 1 | PHYH CL E G H | 5264 | 8940 | OMIM:266500 | Refsum disease | . | | | 45 | | |
HP:0007686 | HP:0012074 | Tonic pupil | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | HP:0040282 - Frequent | | | 79 | | |
HP:0007686 | HP:0007695 | Abnormal pupillary light reflex | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | | | | 79 | | |
HP:0007686 | HP:0012074 | Tonic pupil | 1 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0007686 | HP:0007695 | Abnormal pupillary light reflex | 1 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | | | | 49 | | |
HP:0007686 | HP:0007695 | Abnormal pupillary light reflex | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | | | | 81 | | |
HP:0007686 | HP:0000616 | Miosis | 1 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | | | | 85 | | |
HP:0007686 | HP:0007695 | Abnormal pupillary light reflex | 1 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 129 | | |
HP:0007686 | HP:0007695 | Abnormal pupillary light reflex | 1 | RPGR CL E G H | 6103 | 10295 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 200 | | |
HP:0007686 | HP:0011499 | Mydriasis | 1 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:39044 | Uveal melanoma | HP:0040283 - Occasional | | | 19 | | |
HP:0007686 | HP:0007695 | Abnormal pupillary light reflex | 1 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | HP:0040283 - Occasional | | | 493 | | |
HP:0007686 | HP:0007695 | Abnormal pupillary light reflex | 1 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:601596 | Charcot-Marie-Tooth disease, type 4C | . | | | 493 | | |
HP:0007686 | HP:0000616 | Miosis | 1 | SIX6 CL E G H | 4990 | 10892 | OMIM:212550 | Optic disc anomalies with retinal and/or macular dystrophy | . | | | 20 | | |
HP:0007686 | HP:0011499 | Mydriasis | 1 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 63 | | |
HP:0007686 | HP:0007695 | Abnormal pupillary light reflex | 1 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 48 | | |
HP:0007686 | HP:0000616 | Miosis | 1 | STIM1 CL E G H | 6786 | 11386 | OMIM:185070 | Stormorken syndrome | . | | | 31 | | |
HP:0007686 | HP:0000616 | Miosis | 1 | STIM1 CL E G H | 6786 | 11386 | ORPHA:3204 | Stormorken-Sjaastad-Langslet syndrome | HP:0040281 - Very frequent | | | 31 | | |
HP:0007686 | HP:0011499 | Mydriasis | 1 | TMEM53 CL E G H | 79639 | 26186 | OMIM:619727 | CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI | | | | | | |
HP:0007686 | HP:0007695 | Abnormal pupillary light reflex | 1 | TULP1 CL E G H | 7287 | 12423 | OMIM:613843 | Leber congenital amaurosis 15 | | | | 66 | | |
HP:0007686 | HP:0000616 | Miosis | 1 | ZFHX4 CL E G H | 79776 | 30939 | ORPHA:91411 | Congenital ptosis | | | | | | |
HP:0007686 | HP:0007932 | Bilateral congenital mydriasis | 2 | CL E G H | | | | | | | | | | |
HP:0007686 | HP:0030211 | Slow pupillary light response | 2 | CHRNA3 CL E G H | 1136 | 1957 | OMIM:191800 | URINARY BLADDER, ATONY OF | | | | 4 | | |
HP:0007686 | HP:0030211 | Slow pupillary light response | 2 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0007686 | HP:0007728 | Congenital miosis | 2 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:91411 | Congenital ptosis | | | | 3 | | |
HP:0007686 | HP:0002277 | Horner syndrome | 2 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:91411 | Congenital ptosis | | | | 3 | | |
HP:0007686 | HP:0030211 | Slow pupillary light response | 2 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 90 | | |
HP:0007686 | HP:0030211 | Slow pupillary light response | 2 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | HP:0040283 - Occasional | | | 160 | | |
HP:0007686 | HP:0002277 | Horner syndrome | 2 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0007686 | HP:0002277 | Horner syndrome | 2 | KIF1B CL E G H | 23095 | 16636 | OMIM:256700 | Neuroblastoma, susceptibility to | . | | | 202 | | |
HP:0007686 | HP:0030211 | Slow pupillary light response | 2 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 92 | | |
HP:0007686 | HP:0030211 | Slow pupillary light response | 2 | MPZ CL E G H | 4359 | 7225 | OMIM:607736 | Charcot-Marie-Tooth disease, type 2J | | | | 134 | | |
HP:0007686 | HP:0030211 | Slow pupillary light response | 2 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | HP:0040282 - Frequent | | | 79 | | |
HP:0007686 | HP:0030211 | Slow pupillary light response | 2 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0007686 | HP:0030211 | Slow pupillary light response | 2 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | HP:0040283 - Occasional | | | 81 | | |
HP:0007686 | HP:0030211 | Slow pupillary light response | 2 | TULP1 CL E G H | 7287 | 12423 | OMIM:613843 | Leber congenital amaurosis 15 | . | | | 66 | | |
HP:0007686 | HP:0002277 | Horner syndrome | 2 | ZFHX4 CL E G H | 79776 | 30939 | ORPHA:91411 | Congenital ptosis | | | | | | |
HP:0007686 | HP:0007728 | Congenital miosis | 2 | ZFHX4 CL E G H | 79776 | 30939 | ORPHA:91411 | Congenital ptosis | | | | | | |
HP:0007686 | HP:0006837 | Congenital Horner syndrome | 3 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:91411 | Congenital ptosis | | | | 3 | | |
HP:0007686 | HP:0006837 | Congenital Horner syndrome | 3 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0007686 | HP:0006837 | Congenital Horner syndrome | 3 | ZFHX4 CL E G H | 79776 | 30939 | ORPHA:91411 | Congenital ptosis | | | | | | |