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:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | ADAMTS10 CL E G H | 81794 | 13201 | OMIM:277600 | Weill-Marchesani syndrome 1 | | | | 63 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | ASPH CL E G H | 444 | 757 | OMIM:601552 | Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | | | | 4 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | ATOH7 CL E G H | 220202 | 13907 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 4 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | ATOH7 CL E G H | 220202 | 13907 | OMIM:221900 | Persistent hyperplastic primary vitreous, autosomal recessive | | | | 4 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | | | | 36 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | 8 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | CHRDL1 CL E G H | 91851 | 29861 | OMIM:309300 | MEGALOCORNEA | | | | 9 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | . | | | 27 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:618880 | GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC | | | | 177 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | COL8A2 CL E G H | 1296 | 2216 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | | | | 3 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | COLEC10 CL E G H | 10584 | 2220 | ORPHA:293843 | 3MC syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | COLEC11 CL E G H | 78989 | 17213 | ORPHA:293843 | 3MC syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | CYP1B1 CL E G H | 1545 | 2597 | OMIM:617315 | ANTERIOR SEGMENT DYSGENESIS 6; ASGD6 | | | | 101 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | CYP1B1 CL E G H | 1545 | 2597 | ORPHA:98977 | Juvenile glaucoma | HP:0040282 - Frequent | | | 101 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | CYP1B1 CL E G H | 1545 | 2597 | ORPHA:708 | Peters anomaly | | | | 101 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:98977 | Juvenile glaucoma | HP:0040282 - Frequent | | | 54 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | ELMO2 CL E G H | 63916 | 17233 | ORPHA:3019 | Ramon syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | | | | 1361 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:613001 | Encephalocraniocutaneous lipomatosis | . | | | 172 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:782 | Axenfeld-Rieger syndrome | HP:0040281 - Very frequent | | | 63 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | FOXC1 CL E G H | 2296 | 3800 | OMIM:602482 | Axenfeld-rieger syndrome, type 3 | | | | 63 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:708 | Peters anomaly | | | | 63 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | FOXE3 CL E G H | 2301 | 3808 | OMIM:610256 | Anterior segment dysgenesis 2 | | | | 23 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:708 | Peters anomaly | | | | 23 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | FZD4 CL E G H | 8322 | 4042 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 109 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | GRHL2 CL E G H | 79977 | 2799 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | | | | 33 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | | | | 2 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | 65 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 70 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | LOXL1 CL E G H | 4016 | 6665 | OMIM:177650 | Exfoliation syndrome | | | | 3 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 62 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:259770 | Osteoporosis-Pseudoglioma syndrome | | | | 125 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | LTBP2 CL E G H | 4053 | 6715 | OMIM:251750 | Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | | | | 123 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | LTBP2 CL E G H | 4053 | 6715 | OMIM:614819 | Weill-Marchesani syndrome 3 | | | | 123 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | MASP1 CL E G H | 5648 | 6901 | ORPHA:293843 | 3MC syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | MASP1 CL E G H | 5648 | 6901 | OMIM:257920 | 3mc syndrome 1 | . | | | 21 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | MIR204 CL E G H | 406987 | 31582 | OMIM:616722 | Retinal dystrophy and iris coloboma with or without congenital cataract | | | | 1 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | MITF CL E G H | 4286 | 7105 | ORPHA:42665 | Tietz syndrome | HP:0040281 - Very frequent | | | 91 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | MYOC CL E G H | 4653 | 7610 | ORPHA:98977 | Juvenile glaucoma | HP:0040282 - Frequent | | | 47 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:190 | Coats disease | HP:0040283 - Occasional | | | 39 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | NDP CL E G H | 4693 | 7678 | OMIM:305390 | Exudative vitreoretinopathy 2, X-linked | | | | 39 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | | | | 39 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | NDP CL E G H | 4693 | 7678 | OMIM:310600 | Norrie disease | | | | 39 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 39 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | OVOL2 CL E G H | 58495 | 15804 | OMIM:122000 | Corneal dystrophy, posterior polymorphous, 1 | | | | 4 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | OVOL2 CL E G H | 58495 | 15804 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | | | | 4 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:604229 | Anterior segment dysgenesis 5, multiple subtypes | | | | 194 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:708 | Peters anomaly | | | | 194 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 8 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 20 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 36 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 84 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 57 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 6 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 2 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:3163 | SHORT syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | PITX2 CL E G H | 5308 | 9005 | ORPHA:782 | Axenfeld-Rieger syndrome | HP:0040281 - Very frequent | | | 51 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | PITX2 CL E G H | 5308 | 9005 | ORPHA:708 | Peters anomaly | | | | 51 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | 3 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | PXDN CL E G H | 7837 | 14966 | OMIM:269400 | Corneal opacification with other ocular anomalies | | | | 22 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | | | | 85 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 129 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 48 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040284 - Very rare | | | 138 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | 2 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | TSPAN12 CL E G H | 23554 | 21641 | OMIM:613310 | Exudative vitreoretinopathy 5 | | | | 39 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | VSX1 CL E G H | 30813 | 12723 | OMIM:614195 | Craniofacial anomalies and anterior segment dysgenesis syndrome | | | | 47 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | VSX1 CL E G H | 30813 | 12723 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | | | | 47 | | |
HP:0000593 | HP:0000593 | Abnormal anterior chamber morphology | 0 | ZEB1 CL E G H | 6935 | 11642 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | | | | 8 | | |
HP:0000593 | HP:0011485 | Corneolenticular adhesion | 1 | CL E G H | | | | | | | | | | |
HP:0000593 | HP:0031616 | Anterior chamber flare | 1 | CL E G H | | | | | | | | | | |
HP:0000593 | HP:0031702 | Anterior chamber red blood cells | 1 | CL E G H | | | | | | | | | | |
HP:0000593 | HP:0031615 | Hypopyon | 1 | CL E G H | | | | | | | | | | |
HP:0000593 | HP:0031701 | Anterior chamber inflammatory cells | 1 | CL E G H | | | | | | | | | | |
HP:0000593 | HP:0025560 | Anterior chamber cells | 1 | CL E G H | | | | | | | | | | |
HP:0000593 | HP:0025311 | Anterior chamber cyst | 1 | CL E G H | | | | | | | | | | |
HP:0000593 | HP:0000594 | Shallow anterior chamber | 1 | ADAMTS10 CL E G H | 81794 | 13201 | OMIM:277600 | Weill-Marchesani syndrome 1 | . | | | 63 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0000593 | HP:0000594 | Shallow anterior chamber | 1 | ASPH CL E G H | 444 | 757 | OMIM:601552 | Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | | | | 4 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | ASPH CL E G H | 444 | 757 | OMIM:601552 | Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | | | | 4 | | |
HP:0000593 | HP:0000594 | Shallow anterior chamber | 1 | ATOH7 CL E G H | 220202 | 13907 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 4 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | ATOH7 CL E G H | 220202 | 13907 | OMIM:221900 | Persistent hyperplastic primary vitreous, autosomal recessive | | | | 4 | | |
HP:0000593 | HP:0000594 | Shallow anterior chamber | 1 | ATOH7 CL E G H | 220202 | 13907 | OMIM:221900 | Persistent hyperplastic primary vitreous, autosomal recessive | . | | | 4 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | CD247 CL E G H | 919 | 1677 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 8 | | |
HP:0000593 | HP:0007765 | Deep anterior chamber | 1 | CHRDL1 CL E G H | 91851 | 29861 | OMIM:309300 | MEGALOCORNEA | | | | 9 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | COL18A1 CL E G H | 80781 | 2195 | OMIM:618880 | GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC | | | | 177 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | COL8A2 CL E G H | 1296 | 2216 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | | | | 3 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | CYP1B1 CL E G H | 1545 | 2597 | OMIM:617315 | ANTERIOR SEGMENT DYSGENESIS 6; ASGD6 | | | | 101 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | CYP1B1 CL E G H | 1545 | 2597 | ORPHA:708 | Peters anomaly | | | | 101 | | |
HP:0000593 | HP:0000594 | Shallow anterior chamber | 1 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | . | | | 1361 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | FOXC1 CL E G H | 2296 | 3800 | OMIM:602482 | Axenfeld-rieger syndrome, type 3 | | | | 63 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:708 | Peters anomaly | | | | 63 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | FOXE3 CL E G H | 2301 | 3808 | OMIM:610256 | Anterior segment dysgenesis 2 | | | | 23 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:708 | Peters anomaly | | | | 23 | | |
HP:0000593 | HP:0000594 | Shallow anterior chamber | 1 | FZD4 CL E G H | 8322 | 4042 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 109 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | GRHL2 CL E G H | 79977 | 2799 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | | | | 33 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | | | | 2 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 65 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 70 | | |
HP:0000593 | HP:0012630 | Abnormal trabecular meshwork morphology | 1 | LOXL1 CL E G H | 4016 | 6665 | OMIM:177650 | Exfoliation syndrome | | | | 3 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 62 | | |
HP:0000593 | HP:0008037 | Absent anterior chamber of the eye | 1 | LRP5 CL E G H | 4041 | 6697 | OMIM:259770 | Osteoporosis-Pseudoglioma syndrome | . | | | 125 | | |
HP:0000593 | HP:0007765 | Deep anterior chamber | 1 | LTBP2 CL E G H | 4053 | 6715 | OMIM:251750 | Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | HP:0040283 - Occasional | | | 123 | | |
HP:0000593 | HP:0000594 | Shallow anterior chamber | 1 | LTBP2 CL E G H | 4053 | 6715 | OMIM:614819 | Weill-Marchesani syndrome 3 | . | | | 123 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | MIR204 CL E G H | 406987 | 31582 | OMIM:616722 | Retinal dystrophy and iris coloboma with or without congenital cataract | | | | 1 | | |
HP:0000593 | HP:0000594 | Shallow anterior chamber | 1 | NDP CL E G H | 4693 | 7678 | OMIM:305390 | Exudative vitreoretinopathy 2, X-linked | | | | 39 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | HP:0040281 - Very frequent | | | 39 | | |
HP:0000593 | HP:0000594 | Shallow anterior chamber | 1 | NDP CL E G H | 4693 | 7678 | OMIM:310600 | Norrie disease | . | | | 39 | | |
HP:0000593 | HP:0000594 | Shallow anterior chamber | 1 | NDP CL E G H | 4693 | 7678 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 39 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | OVOL2 CL E G H | 58495 | 15804 | OMIM:122000 | Corneal dystrophy, posterior polymorphous, 1 | | | | 4 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | OVOL2 CL E G H | 58495 | 15804 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | | | | 4 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | PAX6 CL E G H | 5080 | 8620 | OMIM:604229 | Anterior segment dysgenesis 5, multiple subtypes | | | | 194 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | PAX6 CL E G H | 5080 | 8620 | ORPHA:708 | Peters anomaly | | | | 194 | | |
HP:0000593 | HP:0000594 | Shallow anterior chamber | 1 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000593 | HP:0000594 | Shallow anterior chamber | 1 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 20 | | |
HP:0000593 | HP:0000594 | Shallow anterior chamber | 1 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0000593 | HP:0000594 | Shallow anterior chamber | 1 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 84 | | |
HP:0000593 | HP:0000594 | Shallow anterior chamber | 1 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0000593 | HP:0000594 | Shallow anterior chamber | 1 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000593 | HP:0000594 | Shallow anterior chamber | 1 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | PITX2 CL E G H | 5308 | 9005 | ORPHA:708 | Peters anomaly | | | | 51 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 3 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | PXDN CL E G H | 7837 | 14966 | OMIM:269400 | Corneal opacification with other ocular anomalies | | | | 22 | | |
HP:0000593 | HP:0000594 | Shallow anterior chamber | 1 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | . | | | 85 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 129 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 48 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 2 | | |
HP:0000593 | HP:0000594 | Shallow anterior chamber | 1 | TSPAN12 CL E G H | 23554 | 21641 | OMIM:613310 | Exudative vitreoretinopathy 5 | HP:0040283 - Occasional | | | 39 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | VSX1 CL E G H | 30813 | 12723 | OMIM:614195 | Craniofacial anomalies and anterior segment dysgenesis syndrome | | | | 47 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | VSX1 CL E G H | 30813 | 12723 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | | | | 47 | | |
HP:0000593 | HP:0007833 | Anterior chamber synechiae | 1 | ZEB1 CL E G H | 6935 | 11642 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | | | | 8 | | |
HP:0000593 | HP:0025564 | Anterior chamber cells grade 2+ | 2 | CL E G H | | | | | | | | | | |
HP:0000593 | HP:0031619 | Anterior chamber flare grade 2+ | 2 | CL E G H | | | | | | | | | | |
HP:0000593 | HP:0025563 | Anterior chamber cells grade 0 | 2 | CL E G H | | | | | | | | | | |
HP:0000593 | HP:0031618 | Anterior chamber flare grade 1+ | 2 | CL E G H | | | | | | | | | | |
HP:0000593 | HP:0025562 | Anterior chamber cells grade 0.5+ | 2 | CL E G H | | | | | | | | | | |
HP:0000593 | HP:0025561 | Anterior chamber cells grade 1+ | 2 | CL E G H | | | | | | | | | | |
HP:0000593 | HP:0025566 | Anterior chamber cells grade 4+ | 2 | CL E G H | | | | | | | | | | |
HP:0000593 | HP:0031621 | Anterior chamber flare grade 4+ | 2 | CL E G H | | | | | | | | | | |
HP:0000593 | HP:0025565 | Anterior chamber cells grade 3+ | 2 | CL E G H | | | | | | | | | | |
HP:0000593 | HP:0031620 | Anterior chamber flare grade 3+ | 2 | CL E G H | | | | | | | | | | |
HP:0000593 | HP:0011483 | Anterior synechiae of the anterior chamber | 2 | ASPH CL E G H | 444 | 757 | OMIM:601552 | Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | | | | 4 | | |
HP:0000593 | HP:0011484 | Posterior synechiae of the anterior chamber | 2 | ATOH7 CL E G H | 220202 | 13907 | OMIM:221900 | Persistent hyperplastic primary vitreous, autosomal recessive | . | | | 4 | | |
HP:0000593 | HP:0011483 | Anterior synechiae of the anterior chamber | 2 | COL18A1 CL E G H | 80781 | 2195 | OMIM:618880 | GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC | | | | 177 | | |
HP:0000593 | HP:0011483 | Anterior synechiae of the anterior chamber | 2 | COL8A2 CL E G H | 1296 | 2216 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000593 | HP:0011484 | Posterior synechiae of the anterior chamber | 2 | CYP1B1 CL E G H | 1545 | 2597 | OMIM:617315 | ANTERIOR SEGMENT DYSGENESIS 6; ASGD6 | | | | 101 | | |
HP:0000593 | HP:0011483 | Anterior synechiae of the anterior chamber | 2 | CYP1B1 CL E G H | 1545 | 2597 | ORPHA:708 | Peters anomaly | HP:0040281 - Very frequent | | | 101 | | |
HP:0000593 | HP:0011484 | Posterior synechiae of the anterior chamber | 2 | FOXC1 CL E G H | 2296 | 3800 | OMIM:602482 | Axenfeld-rieger syndrome, type 3 | | | | 63 | | |
HP:0000593 | HP:0011483 | Anterior synechiae of the anterior chamber | 2 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:708 | Peters anomaly | HP:0040281 - Very frequent | | | 63 | | |
HP:0000593 | HP:0011484 | Posterior synechiae of the anterior chamber | 2 | FOXE3 CL E G H | 2301 | 3808 | OMIM:610256 | Anterior segment dysgenesis 2 | . | | | 23 | | |
HP:0000593 | HP:0011483 | Anterior synechiae of the anterior chamber | 2 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:708 | Peters anomaly | HP:0040281 - Very frequent | | | 23 | | |
HP:0000593 | HP:0011483 | Anterior synechiae of the anterior chamber | 2 | GRHL2 CL E G H | 79977 | 2799 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040283 - Occasional | | | 33 | | |
HP:0000593 | HP:0011484 | Posterior synechiae of the anterior chamber | 2 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | | | | 2 | | |
HP:0000593 | HP:0011484 | Posterior synechiae of the anterior chamber | 2 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 70 | | |
HP:0000593 | HP:0012631 | Pigment deposition in the trabecular meshwork | 2 | LOXL1 CL E G H | 4016 | 6665 | OMIM:177650 | Exfoliation syndrome | . | | | 3 | | |
HP:0000593 | HP:0011484 | Posterior synechiae of the anterior chamber | 2 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 62 | | |
HP:0000593 | HP:0011484 | Posterior synechiae of the anterior chamber | 2 | MIR204 CL E G H | 406987 | 31582 | OMIM:616722 | Retinal dystrophy and iris coloboma with or without congenital cataract | . | | | 1 | | |
HP:0000593 | HP:0011483 | Anterior synechiae of the anterior chamber | 2 | OVOL2 CL E G H | 58495 | 15804 | OMIM:122000 | Corneal dystrophy, posterior polymorphous, 1 | | | | 4 | | |
HP:0000593 | HP:0011483 | Anterior synechiae of the anterior chamber | 2 | OVOL2 CL E G H | 58495 | 15804 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040283 - Occasional | | | 4 | | |
HP:0000593 | HP:0011483 | Anterior synechiae of the anterior chamber | 2 | PAX6 CL E G H | 5080 | 8620 | OMIM:604229 | Anterior segment dysgenesis 5, multiple subtypes | . | | | 194 | | |
HP:0000593 | HP:0011483 | Anterior synechiae of the anterior chamber | 2 | PAX6 CL E G H | 5080 | 8620 | ORPHA:708 | Peters anomaly | HP:0040281 - Very frequent | | | 194 | | |
HP:0000593 | HP:0011483 | Anterior synechiae of the anterior chamber | 2 | PITX2 CL E G H | 5308 | 9005 | ORPHA:708 | Peters anomaly | HP:0040281 - Very frequent | | | 51 | | |
HP:0000593 | HP:0011483 | Anterior synechiae of the anterior chamber | 2 | PXDN CL E G H | 7837 | 14966 | OMIM:269400 | Corneal opacification with other ocular anomalies | | | | 22 | | |
HP:0000593 | HP:0011484 | Posterior synechiae of the anterior chamber | 2 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 129 | | |
HP:0000593 | HP:0011484 | Posterior synechiae of the anterior chamber | 2 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 48 | | |
HP:0000593 | HP:0011483 | Anterior synechiae of the anterior chamber | 2 | VSX1 CL E G H | 30813 | 12723 | OMIM:614195 | Craniofacial anomalies and anterior segment dysgenesis syndrome | | | | 47 | | |
HP:0000593 | HP:0011483 | Anterior synechiae of the anterior chamber | 2 | VSX1 CL E G H | 30813 | 12723 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040283 - Occasional | | | 47 | | |
HP:0000593 | HP:0011483 | Anterior synechiae of the anterior chamber | 2 | ZEB1 CL E G H | 6935 | 11642 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040283 - Occasional | | | 8 | | |