Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | | | | 57 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | ADAMTSL4 CL E G H | 54507 | 19706 | OMIM:225200 | Ectopia lentis et pupillae | | | | 84 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | ADAMTSL4 CL E G H | 54507 | 19706 | ORPHA:1885 | Isolated ectopia lentis | | | | 84 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | AP3D1 CL E G H | 8943 | 568 | ORPHA:54 | X-linked recessive ocular albinism | HP:0040281 - Very frequent | | | 1 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | ARL6IP6 CL E G H | 151188 | 24048 | ORPHA:1556 | Cutis marmorata telangiectatica congenita | | | | 1 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | ATOH7 CL E G H | 220202 | 13907 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 4 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | ATOH7 CL E G H | 220202 | 13907 | OMIM:221900 | Persistent hyperplastic primary vitreous, autosomal recessive | | | | 4 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 749 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | | | | 193 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | COL8A2 CL E G H | 1296 | 2216 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | | | | 3 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | CPAMD8 CL E G H | 27151 | 23228 | OMIM:617319 | Anterior segment dysgenesis 8 | | | | 5 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | ELP1 CL E G H | 8518 | 5959 | ORPHA:1764 | Familial dysautonomia | HP:0040281 - Very frequent | | | 133 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:1885 | Isolated ectopia lentis | | | | 1361 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | FOXC1 CL E G H | 2296 | 3800 | OMIM:601631 | Anterior segment dysgenesis 3 | | | | 63 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | FOXC1 CL E G H | 2296 | 3800 | OMIM:602482 | Axenfeld-rieger syndrome, type 3 | | | | 63 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | FZD4 CL E G H | 8322 | 4042 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 109 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | GFAP CL E G H | 2670 | 4235 | OMIM:203450 | Alexander disease | | | | 188 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:257850 | Oculodentodigital dysplasia, autosomal recessive | | | | 68 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | GMPPA CL E G H | 29926 | 22923 | OMIM:615510 | Alacrima, achalasia, and mental retardation syndrome | | | | 24 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:1556 | Cutis marmorata telangiectatica congenita | | | | 16 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | GPR143 CL E G H | 4935 | 20145 | ORPHA:54 | X-linked recessive ocular albinism | HP:0040281 - Very frequent | | | 64 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | GRHL2 CL E G H | 79977 | 2799 | OMIM:618031 | Corneal dystrophy, posterior polymorphous, 4 | | | | 33 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | GRHL2 CL E G H | 79977 | 2799 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | | | | 33 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:79414 | Woolly hair nevus | | | | 113 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | KRT25 CL E G H | 147183 | 30839 | ORPHA:170 | Woolly hair | HP:0040283 - Occasional | | | 2 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | KRT71 CL E G H | 112802 | 28927 | ORPHA:170 | Woolly hair | HP:0040283 - Occasional | | | 1 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | KRT74 CL E G H | 121391 | 28929 | ORPHA:170 | Woolly hair | HP:0040283 - Occasional | | | 5 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | LAMB2 CL E G H | 3913 | 6487 | OMIM:609049 | Pierson syndrome | | | | 92 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | LIPH CL E G H | 200879 | 18483 | ORPHA:170 | Woolly hair | HP:0040283 - Occasional | | | 12 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | LOXL1 CL E G H | 4016 | 6665 | OMIM:177650 | Exfoliation syndrome | | | | 3 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | LPAR6 CL E G H | 10161 | 15520 | ORPHA:170 | Woolly hair | HP:0040283 - Occasional | | | 8 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | MAB21L2 CL E G H | 10586 | 6758 | OMIM:615877 | Microphthalmia/coloboma and skeletal dysplasia syndrome | | | | 5 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | MPZ CL E G H | 4359 | 7225 | ORPHA:101082 | Charcot-Marie-Tooth disease type 1B | HP:0040282 - Frequent | | | 134 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | HP:0040283 - Occasional | | | 39 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | NDP CL E G H | 4693 | 7678 | OMIM:310600 | Norrie disease | | | | 39 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 39 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040281 - Very frequent | | | 88 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | OVOL2 CL E G H | 58495 | 15804 | OMIM:122000 | Corneal dystrophy, posterior polymorphous, 1 | | | | 4 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | OVOL2 CL E G H | 58495 | 15804 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | | | | 4 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:106210 | Aniridia | | | | 194 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | PCYT1A CL E G H | 5130 | 8754 | ORPHA:85167 | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | | | | 11 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | PHOX2B CL E G H | 8929 | 9143 | ORPHA:2151 | Hirschsprung disease-ganglioneuroblastoma syndrome | HP:0040281 - Very frequent | | | 86 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:3163 | SHORT syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | PITX2 CL E G H | 5308 | 9005 | OMIM:180500 | Axenfeld-rieger syndrome, type 1 | | | | 51 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | HP:0040282 - Frequent | | | 79 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613150 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | | | | 221 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:2969 | Proteus-like syndrome | HP:0040281 - Very frequent | | | 948 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | RB1 CL E G H | 5925 | 9884 | OMIM:180200 | RETINOBLASTOMA | | | | 365 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | RBP4 CL E G H | 5950 | 9922 | OMIM:616428 | Microphthalmia, isolated, with coloboma 10 | | | | 8 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | RHOA CL E G H | 387 | 667 | OMIM:618727 | ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB | | | | 8 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | | | | 493 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:160565 | Myopathy, tubular aggregate, 1 | HP:0040283 - Occasional | | | 31 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | | | | | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:268130 | Revesz syndrome | | | | 60 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:613550 | NEPHRONOPHTHISIS 11; NPHP11 | | | | 166 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | | | | | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | VSX1 CL E G H | 30813 | 12723 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | | | | 47 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:106210 | Aniridia | | | | 177 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | ZEB1 CL E G H | 6935 | 11642 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | | | | 8 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | | | | 362 | | |
HP:0000615 | HP:0000615 | Abnormal pupil morphology | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040283 - Occasional | | | 362 | | |
HP:0000615 | HP:0025309 | Abnormal pupil shape | 1 | CL E G H | | | | | | | | | | |
HP:0000615 | HP:0009916 | Anisocoria | 1 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | . | | | 57 | | |
HP:0000615 | HP:0009917 | Persistent pupillary membrane | 1 | ADAMTSL4 CL E G H | 54507 | 19706 | OMIM:225200 | Ectopia lentis et pupillae | HP:0040283 - Occasional | | | 84 | | |
HP:0000615 | HP:0009918 | Ectopia pupillae | 1 | ADAMTSL4 CL E G H | 54507 | 19706 | ORPHA:1885 | Isolated ectopia lentis | HP:0040283 - Occasional | | | 84 | | |
HP:0000615 | HP:0000555 | Leukocoria | 1 | ARL6IP6 CL E G H | 151188 | 24048 | ORPHA:1556 | Cutis marmorata telangiectatica congenita | HP:0040282 - Frequent | | | 1 | | |
HP:0000615 | HP:0009917 | Persistent pupillary membrane | 1 | ATOH7 CL E G H | 220202 | 13907 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 4 | | |
HP:0000615 | HP:0000555 | Leukocoria | 1 | ATOH7 CL E G H | 220202 | 13907 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 4 | | |
HP:0000615 | HP:0009917 | Persistent pupillary membrane | 1 | ATOH7 CL E G H | 220202 | 13907 | OMIM:221900 | Persistent hyperplastic primary vitreous, autosomal recessive | . | | | 4 | | |
HP:0000615 | HP:0000555 | Leukocoria | 1 | ATOH7 CL E G H | 220202 | 13907 | OMIM:221900 | Persistent hyperplastic primary vitreous, autosomal recessive | . | | | 4 | | |
HP:0000615 | HP:0009917 | Persistent pupillary membrane | 1 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0000615 | HP:0009918 | Ectopia pupillae | 1 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | HP:0040284 - Very rare | | | 193 | | |
HP:0000615 | HP:0011500 | Polycoria | 1 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | HP:0040284 - Very rare | | | 193 | | |
HP:0000615 | HP:0009918 | Ectopia pupillae | 1 | COL8A2 CL E G H | 1296 | 2216 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 3 | | |
HP:0000615 | HP:0009917 | Persistent pupillary membrane | 1 | CPAMD8 CL E G H | 27151 | 23228 | OMIM:617319 | Anterior segment dysgenesis 8 | HP:0040283 - Occasional | | | 5 | | |
HP:0000615 | HP:0009918 | Ectopia pupillae | 1 | CPAMD8 CL E G H | 27151 | 23228 | OMIM:617319 | Anterior segment dysgenesis 8 | | | | 5 | | |
HP:0000615 | HP:0009918 | Ectopia pupillae | 1 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 1 | | |
HP:0000615 | HP:0009918 | Ectopia pupillae | 1 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 2 | | |
HP:0000615 | HP:0009916 | Anisocoria | 1 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0000615 | HP:0009918 | Ectopia pupillae | 1 | FBN1 CL E G H | 2200 | 3603 | ORPHA:1885 | Isolated ectopia lentis | HP:0040283 - Occasional | | | 1361 | | |
HP:0000615 | HP:0009918 | Ectopia pupillae | 1 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | | | |
HP:0000615 | HP:0009918 | Ectopia pupillae | 1 | FOXC1 CL E G H | 2296 | 3800 | OMIM:601631 | Anterior segment dysgenesis 3 | . | | | 63 | | |
HP:0000615 | HP:0009918 | Ectopia pupillae | 1 | FOXC1 CL E G H | 2296 | 3800 | OMIM:602482 | Axenfeld-rieger syndrome, type 3 | . | | | 63 | | |
HP:0000615 | HP:0009917 | Persistent pupillary membrane | 1 | FZD4 CL E G H | 8322 | 4042 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 109 | | |
HP:0000615 | HP:0000555 | Leukocoria | 1 | FZD4 CL E G H | 8322 | 4042 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 109 | | |
HP:0000615 | HP:0025492 | Microcoria | 1 | GFAP CL E G H | 2670 | 4235 | OMIM:203450 | Alexander disease | | | | 188 | | |
HP:0000615 | HP:0009917 | Persistent pupillary membrane | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:257850 | Oculodentodigital dysplasia, autosomal recessive | . | | | 68 | | |
HP:0000615 | HP:0009916 | Anisocoria | 1 | GMPPA CL E G H | 29926 | 22923 | OMIM:615510 | Alacrima, achalasia, and mental retardation syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0000615 | HP:0000555 | Leukocoria | 1 | GNA11 CL E G H | 2767 | 4379 | ORPHA:1556 | Cutis marmorata telangiectatica congenita | HP:0040282 - Frequent | | | 16 | | |
HP:0000615 | HP:0009918 | Ectopia pupillae | 1 | GRHL2 CL E G H | 79977 | 2799 | OMIM:618031 | Corneal dystrophy, posterior polymorphous, 4 | HP:0040284 - Very rare | | | 33 | | |
HP:0000615 | HP:0009918 | Ectopia pupillae | 1 | GRHL2 CL E G H | 79977 | 2799 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 33 | | |
HP:0000615 | HP:0009917 | Persistent pupillary membrane | 1 | HRAS CL E G H | 3265 | 5173 | ORPHA:79414 | Woolly hair nevus | | | | 113 | | |
HP:0000615 | HP:0025492 | Microcoria | 1 | LAMB2 CL E G H | 3913 | 6487 | OMIM:609049 | Pierson syndrome | . | | | 92 | | |
HP:0000615 | HP:0009918 | Ectopia pupillae | 1 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 2 | | |
HP:0000615 | HP:0009916 | Anisocoria | 1 | LOXL1 CL E G H | 4016 | 6665 | OMIM:177650 | Exfoliation syndrome | . | | | 3 | | |
HP:0000615 | HP:0009918 | Ectopia pupillae | 1 | MAB21L2 CL E G H | 10586 | 6758 | OMIM:615877 | Microphthalmia/coloboma and skeletal dysplasia syndrome | . | | | 5 | | |
HP:0000615 | HP:0000555 | Leukocoria | 1 | NDP CL E G H | 4693 | 7678 | OMIM:310600 | Norrie disease | | | | 39 | | |
HP:0000615 | HP:0000555 | Leukocoria | 1 | NDP CL E G H | 4693 | 7678 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 39 | | |
HP:0000615 | HP:0009917 | Persistent pupillary membrane | 1 | NDP CL E G H | 4693 | 7678 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 39 | | |
HP:0000615 | HP:0009918 | Ectopia pupillae | 1 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 118 | | |
HP:0000615 | HP:0009918 | Ectopia pupillae | 1 | OVOL2 CL E G H | 58495 | 15804 | OMIM:122000 | Corneal dystrophy, posterior polymorphous, 1 | HP:0040283 - Occasional | | | 4 | | |
HP:0000615 | HP:0009918 | Ectopia pupillae | 1 | OVOL2 CL E G H | 58495 | 15804 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 4 | | |
HP:0000615 | HP:0009918 | Ectopia pupillae | 1 | PAX6 CL E G H | 5080 | 8620 | OMIM:106210 | Aniridia | | | | 194 | | |
HP:0000615 | HP:0009918 | Ectopia pupillae | 1 | PCYT1A CL E G H | 5130 | 8754 | ORPHA:85167 | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0000615 | HP:0011500 | Polycoria | 1 | PITX2 CL E G H | 5308 | 9005 | OMIM:180500 | Axenfeld-rieger syndrome, type 1 | . | | | 51 | | |
HP:0000615 | HP:0009918 | Ectopia pupillae | 1 | PITX2 CL E G H | 5308 | 9005 | OMIM:180500 | Axenfeld-rieger syndrome, type 1 | | | | 51 | | |
HP:0000615 | HP:0009916 | Anisocoria | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | HP:0040283 - Occasional | | | 79 | | |
HP:0000615 | HP:0009917 | Persistent pupillary membrane | 1 | POMT2 CL E G H | 29954 | 19743 | OMIM:613150 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | | | | 221 | | |
HP:0000615 | HP:0000555 | Leukocoria | 1 | RB1 CL E G H | 5925 | 9884 | OMIM:180200 | RETINOBLASTOMA | . | | | 365 | | |
HP:0000615 | HP:0025492 | Microcoria | 1 | RBP4 CL E G H | 5950 | 9922 | OMIM:616428 | Microphthalmia, isolated, with coloboma 10 | HP:0040283 - Occasional | | | 8 | | |
HP:0000615 | HP:0009918 | Ectopia pupillae | 1 | RHOA CL E G H | 387 | 667 | OMIM:618727 | ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB | | | | 8 | | |
HP:0000615 | HP:0009916 | Anisocoria | 1 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | HP:0040283 - Occasional | | | 493 | | |
HP:0000615 | HP:0009916 | Anisocoria | 1 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0000615 | HP:0009918 | Ectopia pupillae | 1 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | . | | | | | |
HP:0000615 | HP:0000555 | Leukocoria | 1 | TINF2 CL E G H | 26277 | 11824 | OMIM:268130 | Revesz syndrome | . | | | 60 | | |
HP:0000615 | HP:0009916 | Anisocoria | 1 | TMEM67 CL E G H | 91147 | 28396 | OMIM:613550 | NEPHRONOPHTHISIS 11; NPHP11 | | | | 166 | | |
HP:0000615 | HP:0025492 | Microcoria | 1 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | HP:0040283 - Occasional | | | | | |
HP:0000615 | HP:0009918 | Ectopia pupillae | 1 | VSX1 CL E G H | 30813 | 12723 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 47 | | |
HP:0000615 | HP:0009918 | Ectopia pupillae | 1 | WT1 CL E G H | 7490 | 12796 | OMIM:106210 | Aniridia | | | | 177 | | |
HP:0000615 | HP:0009918 | Ectopia pupillae | 1 | ZEB1 CL E G H | 6935 | 11642 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 8 | | |
HP:0000615 | HP:0009918 | Ectopia pupillae | 1 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | . | | | 362 | | |
HP:0000615 | HP:0009918 | Ectopia pupillae | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040283 - Occasional | | | 362 | | |
HP:0000615 | HP:0025310 | Oval pupil | 2 | CL E G H | | | | | | | | | | |