Human Phenotype Ontology 
Grandparent Node:
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obsolete Abnormal globe morphology (HP:0012374)help
Parent Node:
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Abnormal anterior eye segment morphology (HP:0004328)help
..Starting node
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Abnormal anterior chamber morphology (HP:0000593)help
Term ID: 593
Name: Abnormal anterior chamber morphology
Synonym: Abnormality of the anterior chamber; Anterior chamber anomalies; Ocular anterior chamber abnormality
Definition: Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.
Comments:
Reference: HP:0000593
Genes and Diseases:
 
       Child Nodes:
........expandShallow anterior chamber (HP:0000594) help
........expandAnterior segment dysgenesis (HP:0007700) help
................... HP:0000558 Rieger anomaly
................... HP:0000659 Peters anomaly
................... HP:0001492 Axenfeld anomaly
........expandDeep anterior chamber (HP:0007765) help
........expandAnterior chamber synechiae (HP:0007833) help
................... HP:0011483 Anterior synechiae of the anterior chamber
................... HP:0011484 Posterior synechiae of the anterior chamber
........expandAbsent anterior chamber of the eye (HP:0008037) help
........expandCorneolenticular adhesion (HP:0011485) help
........expandAbnormal trabecular meshwork morphology (HP:0012630) help
................... HP:0012631 Pigment deposition in the trabecular meshwork
........expandAnterior chamber cyst (HP:0025311) help
........expandAnterior chamber cells (HP:0025560) help
................... HP:0025561 Anterior chamber cells grade 1+
................... HP:0025562 Anterior chamber cells grade 0.5+
................... HP:0025563 Anterior chamber cells grade 0
................... HP:0025564 Anterior chamber cells grade 2+
................... HP:0025565 Anterior chamber cells grade 3+
................... HP:0025566 Anterior chamber cells grade 4+
........expandHypopyon (HP:0031615) help
........expandAnterior chamber flare (HP:0031616) help
................... HP:0031618 Anterior chamber flare grade 1+
................... HP:0031619 Anterior chamber flare grade 2+
................... HP:0031620 Anterior chamber flare grade 3+
................... HP:0031621 Anterior chamber flare grade 4+
........expandAnterior chamber inflammatory cells (HP:0031701) help
........expandAnterior chamber red blood cells (HP:0031702) help

 Sister Nodes: 
..expandAbnormal cornea morphology (HP:0000481) help
..expandAbnormal lens morphology (HP:0000517) help
..expandAbnormal suspensory ligament of lens morphology (HP:0012628) help
..expandAbnormality iris morphology (HP:0000525) help
..expandAplasia/Hypoplasia affecting the anterior segment of the eye (HP:0008062) help
..expandPseudoexfoliation (HP:0012627) 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:0000593HP:0000593Abnormal anterior chamber morphology0ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 163
HP:0000593HP:0000593Abnormal anterior chamber morphology0ANKRD55 CL E G H7972225681ORPHA:85410Oligoarticular juvenile idiopathic arthritis
HP:0000593HP:0000593Abnormal anterior chamber morphology0ASPH CL E G H444757OMIM:601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs4
HP:0000593HP:0000593Abnormal anterior chamber morphology0ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0000593HP:0000593Abnormal anterior chamber morphology0ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive4
HP:0000593HP:0000593Abnormal anterior chamber morphology0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0000593HP:0000593Abnormal anterior chamber morphology0CD247 CL E G H9191677ORPHA:85410Oligoarticular juvenile idiopathic arthritis8
HP:0000593HP:0000593Abnormal anterior chamber morphology0CHRDL1 CL E G H9185129861OMIM:309300MEGALOCORNEA9
HP:0000593HP:0000593Abnormal anterior chamber morphology0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0000593HP:0000593Abnormal anterior chamber morphology0COL18A1 CL E G H807812195OMIM:618880GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC177
HP:0000593HP:0000593Abnormal anterior chamber morphology0COL8A2 CL E G H12962216ORPHA:98973Posterior polymorphous corneal dystrophy3
HP:0000593HP:0000593Abnormal anterior chamber morphology0COLEC10 CL E G H105842220ORPHA:2938433MC syndromeHP:0040282 - Frequent3
HP:0000593HP:0000593Abnormal anterior chamber morphology0COLEC11 CL E G H7898917213ORPHA:2938433MC syndromeHP:0040282 - Frequent9
HP:0000593HP:0000593Abnormal anterior chamber morphology0CYP1B1 CL E G H15452597OMIM:617315ANTERIOR SEGMENT DYSGENESIS 6; ASGD6101
HP:0000593HP:0000593Abnormal anterior chamber morphology0CYP1B1 CL E G H15452597ORPHA:98977Juvenile glaucomaHP:0040282 - Frequent101
HP:0000593HP:0000593Abnormal anterior chamber morphology0CYP1B1 CL E G H15452597ORPHA:708Peters anomaly101
HP:0000593HP:0000593Abnormal anterior chamber morphology0EFEMP1 CL E G H22023218ORPHA:98977Juvenile glaucomaHP:0040282 - Frequent54
HP:0000593HP:0000593Abnormal anterior chamber morphology0ELMO2 CL E G H6391617233ORPHA:3019Ramon syndromeHP:0040283 - Occasional3
HP:0000593HP:0000593Abnormal anterior chamber morphology0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0000593HP:0000593Abnormal anterior chamber morphology0FGFR1 CL E G H22603688OMIM:613001Encephalocraniocutaneous lipomatosis.172
HP:0000593HP:0000593Abnormal anterior chamber morphology0FOXC1 CL E G H22963800ORPHA:782Axenfeld-Rieger syndromeHP:0040281 - Very frequent63
HP:0000593HP:0000593Abnormal anterior chamber morphology0FOXC1 CL E G H22963800OMIM:602482Axenfeld-rieger syndrome, type 363
HP:0000593HP:0000593Abnormal anterior chamber morphology0FOXC1 CL E G H22963800ORPHA:708Peters anomaly63
HP:0000593HP:0000593Abnormal anterior chamber morphology0FOXE3 CL E G H23013808OMIM:610256Anterior segment dysgenesis 223
HP:0000593HP:0000593Abnormal anterior chamber morphology0FOXE3 CL E G H23013808ORPHA:708Peters anomaly23
HP:0000593HP:0000593Abnormal anterior chamber morphology0FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0000593HP:0000593Abnormal anterior chamber morphology0GRHL2 CL E G H799772799ORPHA:98973Posterior polymorphous corneal dystrophy33
HP:0000593HP:0000593Abnormal anterior chamber morphology0HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:0000593HP:0000593Abnormal anterior chamber morphology0IL2RA CL E G H35596008ORPHA:85410Oligoarticular juvenile idiopathic arthritis65
HP:0000593HP:0000593Abnormal anterior chamber morphology0IL2RB CL E G H35606009ORPHA:85410Oligoarticular juvenile idiopathic arthritis
HP:0000593HP:0000593Abnormal anterior chamber morphology0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0000593HP:0000593Abnormal anterior chamber morphology0LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophy70
HP:0000593HP:0000593Abnormal anterior chamber morphology0LOXL1 CL E G H40166665OMIM:177650Exfoliation syndrome3
HP:0000593HP:0000593Abnormal anterior chamber morphology0LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophy62
HP:0000593HP:0000593Abnormal anterior chamber morphology0LRP5 CL E G H40416697OMIM:259770Osteoporosis-Pseudoglioma syndrome125
HP:0000593HP:0000593Abnormal anterior chamber morphology0LTBP2 CL E G H40536715OMIM:251750Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma123
HP:0000593HP:0000593Abnormal anterior chamber morphology0LTBP2 CL E G H40536715OMIM:614819Weill-Marchesani syndrome 3123
HP:0000593HP:0000593Abnormal anterior chamber morphology0MASP1 CL E G H56486901ORPHA:2938433MC syndromeHP:0040282 - Frequent21
HP:0000593HP:0000593Abnormal anterior chamber morphology0MASP1 CL E G H56486901OMIM:2579203mc syndrome 1.21
HP:0000593HP:0000593Abnormal anterior chamber morphology0MIR204 CL E G H40698731582OMIM:616722Retinal dystrophy and iris coloboma with or without congenital cataract1
HP:0000593HP:0000593Abnormal anterior chamber morphology0MITF CL E G H42867105ORPHA:42665Tietz syndromeHP:0040281 - Very frequent91
HP:0000593HP:0000593Abnormal anterior chamber morphology0MYOC CL E G H46537610ORPHA:98977Juvenile glaucomaHP:0040282 - Frequent47
HP:0000593HP:0000593Abnormal anterior chamber morphology0NDP CL E G H46937678ORPHA:190Coats diseaseHP:0040283 - Occasional39
HP:0000593HP:0000593Abnormal anterior chamber morphology0NDP CL E G H46937678OMIM:305390Exudative vitreoretinopathy 2, X-linked39
HP:0000593HP:0000593Abnormal anterior chamber morphology0NDP CL E G H46937678ORPHA:649Norrie disease39
HP:0000593HP:0000593Abnormal anterior chamber morphology0NDP CL E G H46937678OMIM:310600Norrie disease39
HP:0000593HP:0000593Abnormal anterior chamber morphology0NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0000593HP:0000593Abnormal anterior chamber morphology0OVOL2 CL E G H5849515804OMIM:122000Corneal dystrophy, posterior polymorphous, 14
HP:0000593HP:0000593Abnormal anterior chamber morphology0OVOL2 CL E G H5849515804ORPHA:98973Posterior polymorphous corneal dystrophy4
HP:0000593HP:0000593Abnormal anterior chamber morphology0PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes194
HP:0000593HP:0000593Abnormal anterior chamber morphology0PAX6 CL E G H50808620ORPHA:708Peters anomaly194
HP:0000593HP:0000593Abnormal anterior chamber morphology0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndrome8
HP:0000593HP:0000593Abnormal anterior chamber morphology0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndrome20
HP:0000593HP:0000593Abnormal anterior chamber morphology0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndrome36
HP:0000593HP:0000593Abnormal anterior chamber morphology0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndrome84
HP:0000593HP:0000593Abnormal anterior chamber morphology0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndrome57
HP:0000593HP:0000593Abnormal anterior chamber morphology0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndrome6
HP:0000593HP:0000593Abnormal anterior chamber morphology0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndrome2
HP:0000593HP:0000593Abnormal anterior chamber morphology0PIK3R1 CL E G H52958979ORPHA:3163SHORT syndromeHP:0040283 - Occasional43
HP:0000593HP:0000593Abnormal anterior chamber morphology0PITX2 CL E G H53089005ORPHA:782Axenfeld-Rieger syndromeHP:0040281 - Very frequent51
HP:0000593HP:0000593Abnormal anterior chamber morphology0PITX2 CL E G H53089005ORPHA:708Peters anomaly51
HP:0000593HP:0000593Abnormal anterior chamber morphology0PTPN2 CL E G H57719650ORPHA:85410Oligoarticular juvenile idiopathic arthritis
HP:0000593HP:0000593Abnormal anterior chamber morphology0PTPN22 CL E G H261919652ORPHA:85410Oligoarticular juvenile idiopathic arthritis3
HP:0000593HP:0000593Abnormal anterior chamber morphology0PXDN CL E G H783714966OMIM:269400Corneal opacification with other ocular anomalies22
HP:0000593HP:0000593Abnormal anterior chamber morphology0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0000593HP:0000593Abnormal anterior chamber morphology0RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophy129
HP:0000593HP:0000593Abnormal anterior chamber morphology0SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophy48
HP:0000593HP:0000593Abnormal anterior chamber morphology0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040284 - Very rare138
HP:0000593HP:0000593Abnormal anterior chamber morphology0STAT4 CL E G H677511365ORPHA:85410Oligoarticular juvenile idiopathic arthritis2
HP:0000593HP:0000593Abnormal anterior chamber morphology0TSPAN12 CL E G H2355421641OMIM:613310Exudative vitreoretinopathy 539
HP:0000593HP:0000593Abnormal anterior chamber morphology0VSX1 CL E G H3081312723OMIM:614195Craniofacial anomalies and anterior segment dysgenesis syndrome47
HP:0000593HP:0000593Abnormal anterior chamber morphology0VSX1 CL E G H3081312723ORPHA:98973Posterior polymorphous corneal dystrophy47
HP:0000593HP:0000593Abnormal anterior chamber morphology0ZEB1 CL E G H693511642ORPHA:98973Posterior polymorphous corneal dystrophy8
HP:0000593HP:0011485Corneolenticular adhesion1 CL E G H
HP:0000593HP:0031616Anterior chamber flare1 CL E G H
HP:0000593HP:0031702Anterior chamber red blood cells1 CL E G H
HP:0000593HP:0031615Hypopyon1 CL E G H
HP:0000593HP:0031701Anterior chamber inflammatory cells1 CL E G H
HP:0000593HP:0025560Anterior chamber cells1 CL E G H
HP:0000593HP:0025311Anterior chamber cyst1 CL E G H
HP:0000593HP:0000594Shallow anterior chamber1ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 1.63
HP:0000593HP:0007833Anterior chamber synechiae1ANKRD55 CL E G H7972225681ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0000593HP:0000594Shallow anterior chamber1ASPH CL E G H444757OMIM:601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs4
HP:0000593HP:0007833Anterior chamber synechiae1ASPH CL E G H444757OMIM:601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs4
HP:0000593HP:0000594Shallow anterior chamber1ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0000593HP:0007833Anterior chamber synechiae1ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive4
HP:0000593HP:0000594Shallow anterior chamber1ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive.4
HP:0000593HP:0007833Anterior chamber synechiae1B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040281 - Very frequent36
HP:0000593HP:0007833Anterior chamber synechiae1CD247 CL E G H9191677ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional8
HP:0000593HP:0007765Deep anterior chamber1CHRDL1 CL E G H9185129861OMIM:309300MEGALOCORNEA9
HP:0000593HP:0007833Anterior chamber synechiae1COL18A1 CL E G H807812195OMIM:618880GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC177
HP:0000593HP:0007833Anterior chamber synechiae1COL8A2 CL E G H12962216ORPHA:98973Posterior polymorphous corneal dystrophy3
HP:0000593HP:0007833Anterior chamber synechiae1CYP1B1 CL E G H15452597OMIM:617315ANTERIOR SEGMENT DYSGENESIS 6; ASGD6101
HP:0000593HP:0007833Anterior chamber synechiae1CYP1B1 CL E G H15452597ORPHA:708Peters anomaly101
HP:0000593HP:0000594Shallow anterior chamber1FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant.1361
HP:0000593HP:0007833Anterior chamber synechiae1FOXC1 CL E G H22963800OMIM:602482Axenfeld-rieger syndrome, type 363
HP:0000593HP:0007833Anterior chamber synechiae1FOXC1 CL E G H22963800ORPHA:708Peters anomaly63
HP:0000593HP:0007833Anterior chamber synechiae1FOXE3 CL E G H23013808OMIM:610256Anterior segment dysgenesis 223
HP:0000593HP:0007833Anterior chamber synechiae1FOXE3 CL E G H23013808ORPHA:708Peters anomaly23
HP:0000593HP:0000594Shallow anterior chamber1FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0000593HP:0007833Anterior chamber synechiae1GRHL2 CL E G H799772799ORPHA:98973Posterior polymorphous corneal dystrophy33
HP:0000593HP:0007833Anterior chamber synechiae1HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:0000593HP:0007833Anterior chamber synechiae1IL2RA CL E G H35596008ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional65
HP:0000593HP:0007833Anterior chamber synechiae1IL2RB CL E G H35606009ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0000593HP:0007833Anterior chamber synechiae1LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophy70
HP:0000593HP:0012630Abnormal trabecular meshwork morphology1LOXL1 CL E G H40166665OMIM:177650Exfoliation syndrome3
HP:0000593HP:0007833Anterior chamber synechiae1LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophy62
HP:0000593HP:0008037Absent anterior chamber of the eye1LRP5 CL E G H40416697OMIM:259770Osteoporosis-Pseudoglioma syndrome.125
HP:0000593HP:0007765Deep anterior chamber1LTBP2 CL E G H40536715OMIM:251750Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucomaHP:0040283 - Occasional123
HP:0000593HP:0000594Shallow anterior chamber1LTBP2 CL E G H40536715OMIM:614819Weill-Marchesani syndrome 3.123
HP:0000593HP:0007833Anterior chamber synechiae1MIR204 CL E G H40698731582OMIM:616722Retinal dystrophy and iris coloboma with or without congenital cataract1
HP:0000593HP:0000594Shallow anterior chamber1NDP CL E G H46937678OMIM:305390Exudative vitreoretinopathy 2, X-linked39
HP:0000593HP:0007833Anterior chamber synechiae1NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040281 - Very frequent39
HP:0000593HP:0000594Shallow anterior chamber1NDP CL E G H46937678OMIM:310600Norrie disease.39
HP:0000593HP:0000594Shallow anterior chamber1NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0000593HP:0007833Anterior chamber synechiae1OVOL2 CL E G H5849515804OMIM:122000Corneal dystrophy, posterior polymorphous, 14
HP:0000593HP:0007833Anterior chamber synechiae1OVOL2 CL E G H5849515804ORPHA:98973Posterior polymorphous corneal dystrophy4
HP:0000593HP:0007833Anterior chamber synechiae1PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes194
HP:0000593HP:0007833Anterior chamber synechiae1PAX6 CL E G H50808620ORPHA:708Peters anomaly194
HP:0000593HP:0000594Shallow anterior chamber1PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional8
HP:0000593HP:0000594Shallow anterior chamber1PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional20
HP:0000593HP:0000594Shallow anterior chamber1PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional36
HP:0000593HP:0000594Shallow anterior chamber1PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional84
HP:0000593HP:0000594Shallow anterior chamber1PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional57
HP:0000593HP:0000594Shallow anterior chamber1PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional6
HP:0000593HP:0000594Shallow anterior chamber1PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional2
HP:0000593HP:0007833Anterior chamber synechiae1PITX2 CL E G H53089005ORPHA:708Peters anomaly51
HP:0000593HP:0007833Anterior chamber synechiae1PTPN2 CL E G H57719650ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0000593HP:0007833Anterior chamber synechiae1PTPN22 CL E G H261919652ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional3
HP:0000593HP:0007833Anterior chamber synechiae1PXDN CL E G H783714966OMIM:269400Corneal opacification with other ocular anomalies22
HP:0000593HP:0000594Shallow anterior chamber1RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 3.85
HP:0000593HP:0007833Anterior chamber synechiae1RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophy129
HP:0000593HP:0007833Anterior chamber synechiae1SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophy48
HP:0000593HP:0007833Anterior chamber synechiae1STAT4 CL E G H677511365ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional2
HP:0000593HP:0000594Shallow anterior chamber1TSPAN12 CL E G H2355421641OMIM:613310Exudative vitreoretinopathy 5HP:0040283 - Occasional39
HP:0000593HP:0007833Anterior chamber synechiae1VSX1 CL E G H3081312723OMIM:614195Craniofacial anomalies and anterior segment dysgenesis syndrome47
HP:0000593HP:0007833Anterior chamber synechiae1VSX1 CL E G H3081312723ORPHA:98973Posterior polymorphous corneal dystrophy47
HP:0000593HP:0007833Anterior chamber synechiae1ZEB1 CL E G H693511642ORPHA:98973Posterior polymorphous corneal dystrophy8
HP:0000593HP:0025564Anterior chamber cells grade 2+2 CL E G H
HP:0000593HP:0031619Anterior chamber flare grade 2+2 CL E G H
HP:0000593HP:0025563Anterior chamber cells grade 02 CL E G H
HP:0000593HP:0031618Anterior chamber flare grade 1+2 CL E G H
HP:0000593HP:0025562Anterior chamber cells grade 0.5+2 CL E G H
HP:0000593HP:0025561Anterior chamber cells grade 1+2 CL E G H
HP:0000593HP:0025566Anterior chamber cells grade 4+2 CL E G H
HP:0000593HP:0031621Anterior chamber flare grade 4+2 CL E G H
HP:0000593HP:0025565Anterior chamber cells grade 3+2 CL E G H
HP:0000593HP:0031620Anterior chamber flare grade 3+2 CL E G H
HP:0000593HP:0011483Anterior synechiae of the anterior chamber2ASPH CL E G H444757OMIM:601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs4
HP:0000593HP:0011484Posterior synechiae of the anterior chamber2ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive.4
HP:0000593HP:0011483Anterior synechiae of the anterior chamber2COL18A1 CL E G H807812195OMIM:618880GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC177
HP:0000593HP:0011483Anterior synechiae of the anterior chamber2COL8A2 CL E G H12962216ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040283 - Occasional3
HP:0000593HP:0011484Posterior synechiae of the anterior chamber2CYP1B1 CL E G H15452597OMIM:617315ANTERIOR SEGMENT DYSGENESIS 6; ASGD6101
HP:0000593HP:0011483Anterior synechiae of the anterior chamber2CYP1B1 CL E G H15452597ORPHA:708Peters anomalyHP:0040281 - Very frequent101
HP:0000593HP:0011484Posterior synechiae of the anterior chamber2FOXC1 CL E G H22963800OMIM:602482Axenfeld-rieger syndrome, type 363
HP:0000593HP:0011483Anterior synechiae of the anterior chamber2FOXC1 CL E G H22963800ORPHA:708Peters anomalyHP:0040281 - Very frequent63
HP:0000593HP:0011484Posterior synechiae of the anterior chamber2FOXE3 CL E G H23013808OMIM:610256Anterior segment dysgenesis 2.23
HP:0000593HP:0011483Anterior synechiae of the anterior chamber2FOXE3 CL E G H23013808ORPHA:708Peters anomalyHP:0040281 - Very frequent23
HP:0000593HP:0011483Anterior synechiae of the anterior chamber2GRHL2 CL E G H799772799ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040283 - Occasional33
HP:0000593HP:0011484Posterior synechiae of the anterior chamber2HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:0000593HP:0011484Posterior synechiae of the anterior chamber2LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional70
HP:0000593HP:0012631Pigment deposition in the trabecular meshwork2LOXL1 CL E G H40166665OMIM:177650Exfoliation syndrome.3
HP:0000593HP:0011484Posterior synechiae of the anterior chamber2LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional62
HP:0000593HP:0011484Posterior synechiae of the anterior chamber2MIR204 CL E G H40698731582OMIM:616722Retinal dystrophy and iris coloboma with or without congenital cataract.1
HP:0000593HP:0011483Anterior synechiae of the anterior chamber2OVOL2 CL E G H5849515804OMIM:122000Corneal dystrophy, posterior polymorphous, 14
HP:0000593HP:0011483Anterior synechiae of the anterior chamber2OVOL2 CL E G H5849515804ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040283 - Occasional4
HP:0000593HP:0011483Anterior synechiae of the anterior chamber2PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes.194
HP:0000593HP:0011483Anterior synechiae of the anterior chamber2PAX6 CL E G H50808620ORPHA:708Peters anomalyHP:0040281 - Very frequent194
HP:0000593HP:0011483Anterior synechiae of the anterior chamber2PITX2 CL E G H53089005ORPHA:708Peters anomalyHP:0040281 - Very frequent51
HP:0000593HP:0011483Anterior synechiae of the anterior chamber2PXDN CL E G H783714966OMIM:269400Corneal opacification with other ocular anomalies22
HP:0000593HP:0011484Posterior synechiae of the anterior chamber2RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional129
HP:0000593HP:0011484Posterior synechiae of the anterior chamber2SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional48
HP:0000593HP:0011483Anterior synechiae of the anterior chamber2VSX1 CL E G H3081312723OMIM:614195Craniofacial anomalies and anterior segment dysgenesis syndrome47
HP:0000593HP:0011483Anterior synechiae of the anterior chamber2VSX1 CL E G H3081312723ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040283 - Occasional47
HP:0000593HP:0011483Anterior synechiae of the anterior chamber2ZEB1 CL E G H693511642ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040283 - Occasional8


Genes (57) :ADAMTS10 ANKRD55 ASPH ATOH7 B3GLCT CD247 CHRDL1 CHST14 COL18A1 COL8A2 COLEC10 COLEC11 CYP1B1 EFEMP1 ELMO2 FBN1 FGFR1 FOXC1 FOXE3 FZD4 GRHL2 HMX1 IL2RA IL2RB JAG1 LCA5 LOXL1 LRAT LRP5 LTBP2 MASP1 MIR204 MITF MYOC NDP OVOL2 PAX6 PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY PIK3R1 PITX2 PTPN2 PTPN22 PXDN RAB18 RPE65 SPATA7 SRCAP STAT4 TSPAN12 VSX1 ZEB1

Diseases (43) :OMIM:277600 ORPHA:85410 OMIM:601552 ORPHA:91495 OMIM:221900 ORPHA:709 OMIM:309300 OMIM:601776 OMIM:618880 ORPHA:98973 ORPHA:293843 OMIM:617315 ORPHA:98977 ORPHA:708 ORPHA:3019 OMIM:608328 OMIM:613001 ORPHA:782 OMIM:602482 OMIM:610256 OMIM:612109 OMIM:118450 ORPHA:364055 OMIM:177650 OMIM:259770 OMIM:251750 OMIM:614819 OMIM:257920 OMIM:616722 ORPHA:42665 ORPHA:190 OMIM:305390 ORPHA:649 OMIM:310600 OMIM:122000 OMIM:604229 ORPHA:247262 ORPHA:3163 OMIM:269400 OMIM:614222 ORPHA:2044 OMIM:613310 OMIM:614195
 

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