Gene Summary

ubiquitin protein ligase E3B

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal iris morphology Ube3bem1(IMPC)Bay HET Early adult 3.65×10-09
trunk curl Ube3bGt(RRJ142)Byg HET   Early adult 2.60×10-05
increased cornea thickness Ube3bem1(IMPC)Bay HET Early adult 0.00
abnormal cornea morphology Ube3bem1(IMPC)Bay HET Early adult 2.75×10-06
preweaning lethality, complete penetrance Ube3bem1(IMPC)Bay HOM   Early adult 0.00
abnormal lens morphology Ube3bem1(IMPC)Bay HET Early adult 2.85×10-08
decreased circulating LDL cholesterol level Ube3bGt(RRJ142)Byg HOM   Early adult 2.06×10-06
decreased circulating cholesterol level Ube3bGt(RRJ142)Byg HOM   Early adult 1.62×10-05
decreased body weight Ube3bGt(RRJ142)Byg HOM Early adult 0.00
abnormal eye anterior chamber depth Ube3bem1(IMPC)Bay HET   Early adult 1.31×10-07
decreased circulating HDL cholesterol level Ube3bGt(RRJ142)Byg HOM   Early adult 4.52×10-05
abnormal retina inner nuclear layer morphology Ube3bem1(IMPC)Bay HET   Early adult 8.27×10-06
eye hemorrhage Ube3bem1(IMPC)Bay HET Early adult 2.40×10-10
iris synechia Ube3bem1(IMPC)Bay HET Early adult 2.46×10-09
fused cornea and lens Ube3bem1(IMPC)Bay HET Early adult 2.46×10-10

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

VIP of right eye

10 Images

Eye Morphology

VIP of left fundus

10 Images

Eye Morphology

VIP of left eye

16 Images

Eye Morphology

VIP of right fundus

10 Images

Legacy Phenotype Associated Images

View all 176 images

Human diseases caused by Ube3b mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ube3b by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ube3b by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Megalocornea OMIM:249300
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Microcornea, Glaucoma, And Absent Frontal Sinuses
Microcornea OMIM:156700
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Congenital corneal dystrophy OMIM:610048
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Aniridia 3
Cataract OMIM:617142
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia, Juvenile cataract OMIM:212500
Dermochondrocorneal Dystrophy
Corneal dystrophy ORPHA:79149
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... OMIM:601813
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy, Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Uveitis, Persistent pupillary membrane, Microcornea, Cataract, Corneal ... OMIM:221900
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Avellino Type
Lattice corneal dystrophy OMIM:607541
Macular Dystrophy, Corneal
Macular dystrophy, Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the c... OMIM:217800
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... OMIM:133780
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Corneal Dystrophy, Lattice Type I
Lattice corneal dystrophy, Recurrent corneal erosions OMIM:122200
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Failure to thrive, Hypoalbuminemia,... OMIM:246700
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Uveal Melanoma
Zonular cataract, Retinal detachment, Iris melanoma, Vitreous hemorrhage, Mydriasis, Inferior len... ORPHA:39044
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Macular hypopl... OMIM:610202
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hypertrophic cardiomyopathy ORPHA:79281
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Pers... ORPHA:91495
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Phacoanaphylactic Uveitis
Abnormal vitreous humor morphology, Anterior chamber flare grade 1+, Anterior chamber cells grade... ORPHA:209959
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Keratoconus OMIM:613835
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Dermoids Of Cornea
Corneal opacity OMIM:304730
Leber Congenital Amaurosis 4
Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Keratoconus, Attenuation of retinal ... OMIM:604393
Intermediate Uveitis
Band keratopathy, Optic neuritis, Macular scar, Vitreous haze, Cataract, Cystoid macular edema, P... ORPHA:279914
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Cataract, Pigmentary retinopathy, Optic disc pallor, Kerato... OMIM:204100
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Retinitis Pigmentosa 84
Rod-cone dystrophy, Cataract, Macular coloboma, Macular atrophy OMIM:618220
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Eales Disease
Subhyaloid hemorrhage, Vitritis, Iris neovascularization, Epistaxis, Retinal vasculitis, Retinal ... ORPHA:40923
Ectopia Lentis Et Pupillae
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Cataract OMIM:190330
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Coats Disease
Abnormal macular morphology, Abnormal anterior chamber morphology, Cataract, Retinal detachment, ... ORPHA:190
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Abnormality of chorioretinal pigmentation, Microcornea, Retinal detachment, Retinal neovasculariz... OMIM:193220
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Cherry red spot of the macula, Corneal opacity ORPHA:351
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Cornea... ORPHA:293603
Retinopathy Of Prematurity
Abnormal macular morphology, Retinal arteriolar tortuosity, Vitreous hemorrhage, Tractional retin... ORPHA:90050
Retinitis Pigmentosa 40
Rod-cone dystrophy, Cataract, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cataract, Retinal dystrophy OMIM:615995
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Cataract OMIM:610156
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis OMIM:251750
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Retinal detachment, Posterior vitreous detachment, Chorior... OMIM:616468
Galactosemia Iv
Cataract OMIM:618881
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis OMIM:613195
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Microcornea, Peripheral retinal atrophy, Retinal dystrophy, Iris coloboma OMIM:615147
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Failure to thrive, Hypocholesterolemia, Decreased LDL ch... OMIM:616834
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Cataract, Corneal opacity, Retinal detachment ORPHA:90654
Wagner Vitreoretinopathy
Vitreoretinopathy, Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Cataract, Per... OMIM:143200
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Corneal Dystrophy, Lattice Type Iiia
Lattice corneal dystrophy, Corneal erosion OMIM:608471
Central Retinal Vein Occlusion
Abnormal anterior eye segment morphology, Cystoid macular edema, Retinal neovascularization, Papi... ORPHA:411527
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Coloboma OMIM:251505
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Retinal vein occlusion, Cataract, Phakodonesis, Lens ... OMIM:177650
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... OMIM:601631
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Retinal detachment, Macular atrophy, Retinal dystrophy, Iris co... OMIM:212550
Corneal Hypesthesia, Familial
Recurrent corneal erosions OMIM:122450
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Idiopathic Panuveitis
Vitreous haze, Cataract, Cystoid macular edema, Posterior synechiae of the anterior chamber, Chor... ORPHA:280921
Spastic Ataxia-Corneal Dystrophy Syndrome
Developmental cataract, Corneal dystrophy, Optic atrophy ORPHA:2572
Brittle Cornea Syndrome 2
Keratoglobus, Sclerocornea, Decreased corneal thickness, Flat cornea, Keratoconus, Megalocornea OMIM:614170
Leber Congenital Amaurosis 1
Optic disc drusen, Fundus atrophy, Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of ... OMIM:204000
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Idiopathic Anterior Uveitis
Posterior synechiae of the anterior chamber, Macular edema, Nuclear cataract, Increased cup-to-di... ORPHA:280914
Oculoauricular Syndrome
Chorioretinal coloboma, Developmental cataract, Retinal coloboma, Morning glory anomaly, Scleroco... OMIM:612109
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Galactosemia Ii
Cataract OMIM:230200
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Nathalie Syndrome
Abnormal EKG, Cataract OMIM:255990
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Retinitis Pigmentosa 9
Cataract, Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormality of the optic disc ORPHA:65
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Corneal guttata, Cataract, Retinal detachment, Retinal dots... OMIM:193230
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... ORPHA:364055
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma OMIM:616428
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Morquio Syndrome C
Corneal opacity OMIM:252300
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract, Cardiomyopathy OMIM:225740
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cataract, Retinal detachment, Cystoid mac... ORPHA:179
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal dystrophy, Corneal guttata, Corneal stromal edema, Corneal degen... OMIM:136800
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Iris coloboma, Microcornea OMIM:601706
Retinal Venous Beading
Saccular conjunctival dilatations, Retinal neovascularization, Abnormal distribution of retinal a... OMIM:180080
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Uveitis, Retinal detachment, Posterior ret... OMIM:193235
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract, Rod-cone dystrophy OMIM:619082
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration OMIM:614292
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Cataract, Optic disc pallor, Macular degeneration OMIM:618195
Retinal Capillary Malformation
Subretinal exudate, Central fundal arteriolar microaneurysms, Retinal exudate, Vitreous hemorrhag... ORPHA:71213
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Co... OMIM:614500
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... ORPHA:75376
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Coloboma, Aniridia, Abnormality of the corneal li... ORPHA:2334
Retinitis Pigmentosa 37
Rod-cone dystrophy, Cataract, Cystoid macular degeneration, Pigmentary retinopathy OMIM:611131
Foveal Hypoplasia 2
Hypoplasia of the fovea, Posterior embryotoxon, Optic nerve misrouting, Foveal hyperpigmentation,... OMIM:609218
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Abnormal foveal morphology on macular OCT, Aplasia/Hypoplasia of the ... ORPHA:370097
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly, Partial agenesis of the corpus callo... OMIM:604213
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Abnormal anterior chamber morphology, Iris pigment dispersion, Abnorm... ORPHA:69736
Corneal Dystrophy, Gelatinous Drop-Like
Corneal dystrophy OMIM:204870
Dilution, Pigmentary
Hypopigmentation of the fundus, Iris hypopigmentation OMIM:126070
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Choroideremia, Retinal nonattachment, Iris hypopigmentation ORPHA:99000
Sveinsson Chorioretinal Atrophy
Peripapillary chorioretinal atrophy, Astigmatism OMIM:108985
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Optic atrophy, Posterior embryotoxon, Cataract, Corneal opacity, Retinal ... ORPHA:1473
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Retinitis Pigmentosa 4
Rod-cone dystrophy, Cataract, Pigmentary retinopathy OMIM:613731
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, Corneal dystrophy OMIM:612868
Juvenile Xanthogranuloma
Asymmetry of iris pigmentation, Hyphema, Uveitis, Iritis ORPHA:158000
Macular Degeneration, Age-Related, 1
Geographic atrophy, Foveal hypopigmentation, Choroidal neovascularization, Macular degeneration, ... OMIM:603075
Cataract 47
Microcornea, Cataract OMIM:612018
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Cataract ORPHA:75858
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Transient hypophosphatemia, Small for gestational age, Hypocalcemia, Papil... OMIM:127000
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Brittle Cornea Syndrome 1
Keratoconus, Abnormal cornea morphology, Decreased corneal thickness, Keratoglobus OMIM:229200
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Heterochromia Iridis
Heterochromia iridis, Asymmetry of iris pigmentation OMIM:142500
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Mild malformation of cortical development, Abnormal cerebral white ma... ORPHA:500166
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Corneal Dystrophy, Meesmann, 1
Corneal dystrophy, Punctate opacification of the cornea OMIM:122100
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of the fundus, Macular hypoplasia, Blue irides OMIM:606574
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Abnormal Descemet membrane morphology, Corneal guttata, Corneal stromal edema,... OMIM:613270
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal detachment, Retinal dysplasia... OMIM:310600
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Subcutaneous hemorrhage ORPHA:1980
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Microphthalmia, Isolated 6
Microcornea, Retinal fold OMIM:613517
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Macrophthalmia, Colobomatous, With Microcornea
Coloboma, Microcornea, Macular atrophy OMIM:602499
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Fundus... ORPHA:67042
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum, Failure to thrive, Poor eye contact OMIM:618276
2Q24 Microdeletion Syndrome
Coloboma, Cataract, Abnormality iris morphology ORPHA:1617
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Cataract, Keratoconus, Optic atrophy, Abnormal retinal vascu... ORPHA:791
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Purpura, Pulmonary embolism OMIM:612304
Glaucoma 3, Primary Congenital, E
Megalocornea OMIM:617272
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Failure to thrive, Hyperbil... OMIM:605814
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Hypertrophic cardiomyopathy, Corneal dystrophy ORPHA:1369
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Retinal calcification, Subretinal pigment epithelium hemorrhage, Uveitis, Heterochromia iridis, H... ORPHA:790
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Steatorrhea OMIM:266510
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Retinopathy, Cataract OMIM:183800
Coats Disease
Retinal telangiectasia, Leukocoria, Exudative retinal detachment OMIM:300216
Congenital Primary Aphakia
Congenital aphakia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior segment of the e... ORPHA:83461
Cataract 11, Multiple Types
Cataract OMIM:610623
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment OMIM:157150
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Biemond Syndrome Ii
Iris coloboma OMIM:210350
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Cataract, Cystoid macular edema, Rod-cone ... OMIM:611040
Aniridia 2
Cataract, Aniridia OMIM:617141
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Microcornea, Chorioretinal degeneration, Posterior subcapsular cataract OMIM:615458
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
X-Linked Recessive Ocular Albinism
Abnormal macular morphology, Hypoplasia of the fovea, Astigmatism, Abnormal pupil morphology, Ocu... ORPHA:54
Polycystic Kidney, Cataract, And Congenital Blindness
Retinal dystrophy, Cataract, Hypoplasia of the retina, Microcoria OMIM:263100
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Chorioretinal dysplasia, Abnormality of retinal pigmentation, Cataract, Retinal detachment, Retin... OMIM:251270
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Iris coloboma OMIM:613702
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Cataract, Retinal detachment ORPHA:35737
Retinitis Pigmentosa 23
Rod-cone dystrophy, Posterior subcapsular cataract OMIM:300424
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus, Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Growth delay, Overfriendliness, Primary microcephaly OMIM:618010
Cataract 17, Multiple Types
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract OMIM:611544
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Corneal opacity, Optic nerve hypoplasia, Peripheral vitreous opacities, O... ORPHA:137902
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis ORPHA:1259
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy, Astigmatism OMIM:268060
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal opacity, Corneal erosion, Corneal dystrophy OMIM:608470
Vernal Keratoconjunctivitis
Punctate keratitis, Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva ... ORPHA:70476
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Corneal perforation, Herpetiform corneal ulceration, Corneal stromal ede... ORPHA:137599
Hec Syndrome
Developmental cataract, Arrhythmia, Abnormal pupil morphology, Cardiomyopathy, Abnormal retinal v... ORPHA:2119
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity, Nuclear cataract ORPHA:293621
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Juvenile Glaucoma
Abnormal anterior chamber morphology, Temporal optic disc pallor, Retinal vein occlusion, Abnorma... ORPHA:98977
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation ORPHA:3214
Dystonia 31
Abnormal posturing OMIM:619565
Microcephaly 5, Primary, Autosomal Recessive
Agenesis of corpus callosum, Small cerebral cortex, Ventriculomegaly, Microcephaly, Simplified gy... OMIM:608716
Autosomal Dominant Kenny-Caffey Syndrome
Retinal calcification, Hypocalcemic seizures, Papilledema, Hyperphosphatemia, Hypocalcemic tetany... ORPHA:93325
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly OMIM:610023
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Griscelli Syndrome Type 3
Iris hypopigmentation ORPHA:79478
Proximal Myotonic Myopathy
Cataract ORPHA:606
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Hypertension, Ectopia lentis ORPHA:1885
Brittle Cornea Syndrome
Bruising susceptibility, Corneal scarring, Corneal dystrophy, Keratoglobus, Retinal detachment, D... ORPHA:90354
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Peroxisome Biogenesis Disorder 9B
Rod-cone dystrophy, Cataract, Cardiomyopathy OMIM:614879
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Retinal degeneration, Arrhythmia, Sick sinus syndrome, Bradycardia, Kerato... ORPHA:542306
Iris Hypoplasia With Glaucoma
Iris atrophy, Hypoplasia of the iris OMIM:308500
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Cataract 16, Multiple Types
Retinal dystrophy, Developmental cataract, Posterior polar cataract OMIM:613763
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elevated circulating methylsuccinic acid concentrat... OMIM:618156
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Vitritis, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Leukocoria OMIM:180200
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Cortical cataract, Hyperautofluorescen... OMIM:618613
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Lens subluxation, Optic disc coloboma, Iris coloboma OMIM:216820
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Congestive heart failure, Cataract, Hypertrophic cardiomyopathy, Pulmonary embolism, ... ORPHA:1345
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Coloboma, Cataract OMIM:120433
Pellagra-Like Syndrome
Cataract OMIM:260650
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea OMIM:607765
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration, Marginal corneal dystrophy OMIM:210370
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Retinitis Pigmentosa 2
Bull's eye maculopathy, Fundus atrophy, Cataract, Chorioretinal degeneration, Rod-cone dystrophy,... OMIM:312600
Retinitis Pigmentosa 77
Retinal atrophy, Rod-cone dystrophy, Cystoid macular edema, Posterior subcapsular cataract OMIM:617304
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Pulmonic stenosis, Microspherophakia, Aortic valve stenosis, Ectopia le... OMIM:614819
Cataract 2, Multiple Types
Microcornea, Developmental cataract, Nuclear cataract OMIM:604307
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis OMIM:110150
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central corneal dystrophy, Corneal crystals, Central opacificati... ORPHA:98962
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor, Anisocoria OMIM:619649
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Hypoplasia of the fovea, Cataract, Optic n... OMIM:106210
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Iris coloboma OMIM:611638
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Obesity, Hypertriglyceridemia, Increased LDL cholesterol concentration, Dec... OMIM:615703
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Granular corneal dystrophy, Corneal crystals, Central opacificat... ORPHA:98963
Potocki-Lupski Syndrome
Small for gestational age, Microcephaly, Failure to thrive, Hypoplasia of the corpus callosum, Hy... OMIM:610883
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Generalized Eruptive Keratoacanthoma
Keratoconjunctivitis sicca, Abnormal cornea morphology, Conjunctivitis ORPHA:411777
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Subepithelial corneal opacities, Corneal dystrophy, Corneal scarring, Kera... ORPHA:293381
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Keratoconus, Astigmatism, Keratoglobus OMIM:108145
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Steatorrhea ORPHA:71
Supernumerary Nostril
Microcornea, Developmental cataract ORPHA:141096
Limbal Stem Cell Deficiency
Corneal perforation, Corneal scarring, Opacification of the corneal epithelium, Cornea verticilla... ORPHA:171673
Microcephaly 17, Primary, Autosomal Recessive
Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, Simplified gyral pattern, Short stat... OMIM:617090
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Linear Verrucous Nevus Syndrome
Retinopathy, Abnormal cornea morphology, Iris coloboma, Cataract, Aplasia/Hypoplasia of the fovea ORPHA:2611
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Chorioretinal coloboma, Iris coloboma, Retinal coloboma ORPHA:2921
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Abnormal corneal endothelium morphology, Ocular anterior segment dysgenesis OMIM:614195
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma OMIM:601794
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology, Hypoplasia of t... ORPHA:96125
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Prolonged QT interval, Arrhythmia ORPHA:2151
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Posterior subcapsular cataract OMIM:615434
Scheie Syndrome
Aortic valve stenosis, Corneal opacity, Retinal degeneration, Aortic regurgitation OMIM:607016
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Leukocoria, Retinal detachment, Hypertension OMIM:219250
Cataract 6, Multiple Types
Choroideremia, Developmental cataract, Posterior polar cataract OMIM:116600
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma ORPHA:363741
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Corneal opacity, Reduced number of corneal endothelial c... ORPHA:98974
Pierson Syndrome
Uveal ectropion, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia of the iris, Hypo... OMIM:609049
Enhanced S-Cone Syndrome
Vitreoretinopathy, Cataract, Pigmentary retinopathy, Macular edema, Retinoschisis OMIM:268100
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Collagenoma, Familial Cutaneous
Congestive heart failure, Tricuspid regurgitation, Atrial fibrillation, Cardiomyopathy, Vasculiti... OMIM:115250
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Cerebral atrophy, Abnormal corpus callosum morphology, Periventricular cysts, Abnormality of the ... ORPHA:255182
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Chorioretinal hyperpigmentation, Abnormal macular morphology, Cataract, Cho... ORPHA:414
Tubulointerstitial Nephritis And Uveitis Syndrome
Retinal vasculitis, Anterior chamber flare, Chorioretinal scar, Posterior uveitis, Cataract, Iris... ORPHA:91500
Anisocoria OMIM:106240
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Coloboma, Ectopia pupillae OMIM:615877
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Corneal opacity, Remnants of the hyaloid vascular ... OMIM:120200
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Retinal detachment, Ocular anterior segment dysgenesis, Iris coloboma OMIM:615145
Retinitis Pigmentosa 74
Pigmentary retinopathy, Optic disc pallor, Posterior polar cataract, Rod-cone dystrophy OMIM:616562
Subconjunctival hemorrhage, Optic neuritis, Uveitis, Chorioretinitis, Retinal hemorrhage, Arrhyth... ORPHA:509
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Facial Spasm
Anisocoria OMIM:134300
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Bundle branch block, Hypertension, Hematemesis, Subdural hemorrhage, ... ORPHA:99827
Fish-Eye Disease
Angina pectoris, Corneal opacity ORPHA:79292
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Abnormality of the optic disc, Decreased corneal thickness, Congenital stationary night blindness ORPHA:293967
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Subepithelial corneal opacities, Corneal dystrophy OMIM:221800
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Decreased body weight, Sensorineural hearing impairment, Elevated circulati... ORPHA:96180
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Retinal detachment, Optic nerve hypoplasia, Coloboma, Cardiomyopathy, Megalocornea, Opt... ORPHA:370959
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Pseudoxanthoma Elasticum
Optic disc drusen, Gastrointestinal hemorrhage, Retinal hemorrhage, Congestive heart failure, Int... OMIM:264800
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Neurotrophic Keratopathy
Corneal ulceration, Corneal perforation, Corneal scarring, Astigmatism, Corneal stromal edema, An... ORPHA:137596
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Developmental cataract, Cerulean cataract OMIM:601547
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Decreased body weight, Agenesis of corpus callosum, Mild short statur... OMIM:614833
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Conjunctivitis OMIM:242150
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Cinca Syndrome
Hepatosplenomegaly, Uveitis, Elevated circulating C-reactive protein concentration, Papilledema, ... OMIM:607115
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Ectopia lentis, Iris atrophy OMIM:601552
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Ectopia pupillae, Hypoplasia of the iris OMIM:602482
Microtriplication 11Q24.1
Keratoconus ORPHA:289522
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Truncal obesity, Hypercholesterolemia OMIM:615812
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal ulceration, Corneal scarring OMIM:616488
Abnormal pupil morphology, Microcornea, Iris coloboma ORPHA:3374
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Dysplastic corpus callosum, Hypocholesterolemia OMIM:618810
Congenital Disorder Of Glycosylation, Type Ia
Microcephaly, Rod-cone dystrophy, Failure to thrive, Macrotia, Hypoalbuminemia, Premature ovarian... OMIM:212065
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Failure to thrive, Leukoencephalopathy, Hypoplasia of the corpus call... OMIM:614924
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic nerve hypoplasia, Optic atrophy, Optic disc hypoplasia ORPHA:401777
Atopic Keratoconjunctivitis
Corneal opacity, Keratoconjunctivitis sicca, Chemosis, Keratitis, Corneal neovascularization ORPHA:163934
Pyruvate Dehydrogenase E1-Beta Deficiency
Decreased body weight, Periventricular cysts, Intrauterine growth retardation, Agenesis of corpus... ORPHA:255138
Autosomal Recessive Primary Microcephaly
Agenesis of corpus callosum, Hypoplasia of the frontal lobes, Growth delay, Ventriculomegaly, Mic... ORPHA:2512
Marburg Hemorrhagic Fever
Subconjunctival hemorrhage, Bruising susceptibility, Petechiae, Uveitis, Hypovolemia, Shock, Hypo... ORPHA:99826
Kaposiform Lymphangiomatosis
Subconjunctival hemorrhage, Bruising susceptibility, Ecchymosis, Epidural hemorrhage, Abnormal bl... ORPHA:464329
Short Syndrome
Abnormal anterior chamber morphology, Hypoplasia of the iris, Posterior embryotoxon, Corneal opac... ORPHA:3163
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Retinal hemorrhage, Diffuse alveolar hemorrhage, Hyper... ORPHA:464321
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Congenital Microcoria
Developmental cataract, Astigmatism, Iris transillumination defect, Corneal stromal edema, Hypopl... ORPHA:566
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Lujo Hemorrhagic Fever
Subconjunctival hemorrhage, Ecchymosis, Purpura, Hypotension, Myocarditis, Excessive bleeding aft... ORPHA:319213
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract OMIM:116800
Abnormal pinna morphology, Recurrent pneumonia, Hyponatremia, Progressive microcephaly, Chronic r... ORPHA:79324
Hemorrhagic Fever-Renal Syndrome
Subconjunctival hemorrhage, Petechiae, Ecchymosis, Shock, Hypotension, Capillary leak, Hypertensi... ORPHA:340
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Ventriculomegaly, Abnormal periventricular white ma... OMIM:616900
Proteus-Like Syndrome
Heterochromia iridis, Cataract, Retinal detachment, Abnormal pupil morphology, Limbal dermoid ORPHA:2969
Mucolipidosis Iv
Microcephaly, Dysplastic corpus callosum, Cerebral dysmyelination OMIM:252650
Alagille Syndrome
Corneal dystrophy, Telangiectasia of the skin, Abnormal pupil morphology, Hypertension, Keratoconus ORPHA:52
Familial Dysautonomia
Orthostatic hypotension, Heterochromia iridis, Corneal opacity, Abnormal pupil morphology, Hypert... ORPHA:1764
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Abnormally prominent line of Schwalbe, Hypoplasia of the iris, Posterior embryotoxon, ... OMIM:180500
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Decreased circulating apolipoprotein C-II concen... OMIM:207750
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Uveitis, Elevated circulating creatinine concentration, Glome... OMIM:607665
Warburg-Cinotti Syndrome
Retinal dystrophy, Symblepharon, Decreased corneal thickness, Limbal stem cell deficiency, Cornea... OMIM:618175
Retinal Arteries, Tortuosity Of
Retinal arteriolar tortuosity, Retinal hemorrhage OMIM:180000
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Ventriculomegaly, Microcephaly, Simplified gyral pattern, Short statu... OMIM:619179
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Abnormality of retinal pigmentation, Corneal opacity, Lens subluxation, Retinal... ORPHA:85167
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Decreased LDL cholesterol concentration, Abnormality of retinal pigmentation, Hypopigmentation of... ORPHA:14
Arterial Tortuosity Syndrome
Bruising susceptibility, Aortic regurgitation, Telangiectases of the cheeks, Hypertension, Kerato... OMIM:208050
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Progressive microcephaly, Failure to thrive in infancy, Ventriculomeg... ORPHA:488627
Cataract 30, Multiple Types
Pulverulent cataract, Posterior polar cataract, Diffuse nuclear cataract OMIM:116300
Granulomatosis With Polyangiitis
Uveitis, Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Keratit... OMIM:608710
Megalocornea-Intellectual Disability Syndrome
Abnormal anterior chamber morphology, Iridodonesis, Hypoplasia of the iris, Astigmatism, Megaloco... ORPHA:2479
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Anterior hypopituitarism OMIM:601016
Incontinentia Pigmenti
Uveitis, Retinal vascular proliferation, Retinal hemorrhage, Hypoplasia of the fovea, Cataract, R... OMIM:308300
Nail-Patella Syndrome
Microcornea, Cataract, Antecubital pterygium, Lester's sign, Keratoconus, Microphakia OMIM:161200
Central retinal artery occlusion, Retinal hemorrhage, Abnormality of the optic nerve, Abnormal uv... ORPHA:863
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology ORPHA:250999
Kaufman Oculocerebrofacial Syndrome
Low-set ears, Microcephaly, Failure to thrive, Optic disc pallor, Hypoplasia of the corpus callos... OMIM:244450
Cinca Syndrome
Uveitis, Inflammatory abnormality of the eye, Sensorineural hearing impairment, Splenomegaly, Ele... ORPHA:1451
Incontinentia Pigmenti
Uveitis, Retinal vascular proliferation, Retinal hemorrhage, Congestive heart failure, Cataract, ... ORPHA:464
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Dysplastic corpus callosum, Progressive microcephaly, Ventriculomegal... ORPHA:2524
Nephronophthisis 11
Retinal degeneration, Anisocoria OMIM:613550
Even-Plus Syndrome
Severe short stature, Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Osteoporosis-Pseudoglioma Syndrome
Vitreoretinopathy, Cataract, Absent anterior chamber of the eye, Iris atrophy OMIM:259770
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Autosomal Recessive Cutis Laxa Type 2A
Dysplastic corpus callosum, Intrauterine growth retardation, Dilated fourth ventricle, Primary mi... ORPHA:357058
Costello Syndrome
Keratoconus, Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:3071
Revesz Syndrome
Leukocoria, Megalocornea, Exudative retinopathy OMIM:268130
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Astigmatism, Ectopia pupillae, Optic atrophy OMIM:618727
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, Obesity, Hypoal... ORPHA:86816
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Bruising susceptibility, Gastrointestinal hemorrhage, Congestive heart failure, Microcornea, Reti... OMIM:225400
Megalocornea-Mental Retardation Syndrome
Megalocornea, Iridodonesis, Hypoplasia of the iris OMIM:249310
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Combined Oxidative Phosphorylation Deficiency 53
Short stature, Dysplastic corpus callosum, Failure to thrive, Secondary microcephaly OMIM:619423
Muckle-Wells Syndrome
Uveitis, Arthritis, Splenomegaly, Conjunctivitis, Recurrent aphthous stomatitis, Progressive sens... ORPHA:575
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing OMIM:128100
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Corneal opac... OMIM:175780
Huntington Disease-Like 1
Abnormal posturing ORPHA:157941
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal arteriolar tortuosity, Supraventricular arrhythmia, Retinal hemorrhage, Raynaud phenomenon OMIM:611773
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Cockayne Syndrome Type 3
Corneal ulceration, Lentiglobus, Retinal degeneration, Retinal hemorrhage, Microcornea, Cataract,... ORPHA:90324
Angelman Syndrome
Astigmatism, Optic disc pallor, Iris hypopigmentation, Keratoconus, Optic atrophy ORPHA:72
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Carpenter Syndrome
Abnormal cornea morphology ORPHA:65759
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Recurrent otitis media, Low-set ears, Epiphyseal stippling, Hypopl... OMIM:270400
Oculocerebrodental Syndrome
Dysplastic corpus callosum, Short stature, Abnormality of thalamus morphology, Focal white matter... ORPHA:557003
Achalasia-Addisonianism-Alacrima Syndrome