Gene Summary

Name:
ubiquitin protein ligase E3B
Synonyms:
N/A

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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 6.87×10-09
abnormal facial morphology Ube3bem1(IMPC)Bay HOM E18.5 0.00
increased cornea thickness Ube3bem1(IMPC)Bay HET Early adult 0.00
fused cornea and lens Ube3bem1(IMPC)Bay HET Early adult 3.65×10-10
abnormal embryo size Ube3bem1(IMPC)Bay HOM E18.5 0.00
eye hemorrhage Ube3bem1(IMPC)Bay HET Early adult 1.16×10-09
iris synechia Ube3bem1(IMPC)Bay HET Early adult 3.52×10-09
preweaning lethality, complete penetrance Ube3bem1(IMPC)Bay HOM   Early adult 0.00
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
abnormal retina inner nuclear layer morphology Ube3bem1(IMPC)Bay HET Early adult 1.56×10-05
abnormal eye anterior chamber depth Ube3bem1(IMPC)Bay HET Early adult 1.68×10-05
trunk curl Ube3bGt(RRJ142)Byg HET   Early adult 2.60×10-05
decreased circulating HDL cholesterol level Ube3bGt(RRJ142)Byg HOM Early adult 4.52×10-05
preweaning lethality, incomplete penetrance Ube3bGt(RRJ142)Byg HOM   Early adult 0.00
abnormal lens morphology Ube3bem1(IMPC)Bay HET Early adult 6.31×10-08
decreased body weight Ube3bGt(RRJ142)Byg HOM Early adult 0.00
abnormal cornea morphology Ube3bem1(IMPC)Bay HET Early adult 4.53×10-06

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Select physiological systems to view:
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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

Eye Morphology

VIP of right fundus

16 Images

X-ray

XRay Images Forepaw

7 Images

X-ray

XRay Images Skull Lateral Orientation

7 Images

Eye Morphology

VIP of left fundus

16 Images

MicroCT E18.5

Embryo reconstruction

8 Images

Eye Morphology

VIP of right eye

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

Eye Morphology

VIP of left eye

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

7 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
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Retinopathy Of Prematurity
Retinopathy of prematurity, Cataract, Tractional retinal detachment, Abnormal retinal vascular mo... ORPHA:90050
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
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
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Microcornea, Glaucoma, And Absent Frontal Sinuses
Microcornea OMIM:156700
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract, Sudden cardiac death, Arrhythmia OMIM:212500
Dermochondrocorneal Dystrophy
Corneal dystrophy ORPHA:79149
Exudative Vitreoretinopathy 4
Posterior vitreous detachment, Retinal exudate, Subcapsular cataract, Tractional retinal detachme... OMIM:601813
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Developmental cataract, Retinal atrophy, Posterior synechiae of the anterior chamber OMIM:616722
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Corneal dystrophy, Map-dot-fingerprint corneal dystrophy OMIM:121820
Corneal Dystrophy, Avellino Type
Lattice corneal dystrophy OMIM:607541
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... OMIM:221900
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Macular Dystrophy, Corneal
Recurrent corneal erosions, Macular dystrophy, Corneal dystrophy, Punctate opacification of the c... OMIM:217800
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Optic nerve dysplasia, Corneal stromal ... OMIM:617319
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Anterior Segment Dysgenesis 5
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... OMIM:604229
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Uveal Melanoma
Mydriasis, Abnormal fundus morphology, Retinal detachment, Inferior lens subluxation, Zonular cat... ORPHA:39044
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Hypoplasia of the fovea, Iris cyst OMIM:620086
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula... OMIM:133780
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hypertrophic cardiomyopathy ORPHA:79281
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Glial remnants anterior to the optic disc, Microco... ORPHA:91495
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Phacoanaphylactic Uveitis
Cystoid macular edema, Hyphema, Corneal keratic precipitates, Anterior uveitis, Panuveitis, Pseud... ORPHA:209959
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular edema, Macular exudate, Chorioretinal atrophy, Vitreous floaters,... ORPHA:891
Leber Congenital Amaurosis 2
Keratoconus, Pigmentary retinopathy, Fundus atrophy, Attenuation of retinal blood vessels, Catara... OMIM:204100
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Leber Congenital Amaurosis 4
Keratoconus, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Opti... OMIM:604393
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio... OMIM:613835
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Cataract 42
Cataract, Developmental cataract OMIM:115900
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Coloboma, Corneal opacity, Congenital aphakia, Anterior segment of eye apl... OMIM:610256
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Neovascular Glaucoma
Abnormal anterior chamber morphology, Retinal detachment, Retinal vascular proliferation, Corneal... ORPHA:94058
Intermediate Uveitis
Vasculitis, Band keratopathy, Cystoid macular edema, Vitreous snowballs, Optic neuritis, Vitreous... ORPHA:279914
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Dermoids Of Cornea
Corneal opacity OMIM:304730
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea OMIM:217300
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Cataract 21, Multiple Types
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... OMIM:610202
Trichomegaly
Cataract OMIM:190330
Vitreoretinochoroidopathy
Retinal detachment, Microcornea, Abnormality of chorioretinal pigmentation, Retinal arteriolar oc... OMIM:193220
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Eales Disease
Ischemic stroke, Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, ... ORPHA:40923
Coats Disease
Abnormal anterior chamber morphology, Retinal detachment, Abnormal macular morphology, Abnormal r... ORPHA:190
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... ORPHA:293603
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hyp... OMIM:246700
Galactosialidosis
Corneal opacity, Cherry red spot of the macula ORPHA:351
Brittle Cornea Syndrome 2
Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ... OMIM:614170
Iridocorneal Endothelial Syndrome
Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a... ORPHA:64734
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, R... ORPHA:83461
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Blue Cone Monochromatism
Corneal dystrophy, Abnormality of retinal pigmentation ORPHA:16
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic atrophy, Optic disc pallor OMIM:165300
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the ... OMIM:613195
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Macular Corneal Dystrophy
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... ORPHA:98969
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract ORPHA:90654
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Microphthalmia/Coloboma 10
Optic pit, Chorioretinal coloboma, Microcoria, Iris coloboma OMIM:616428
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme... ORPHA:98973
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Microphthalmia/Coloboma 4
Microcornea, Coloboma OMIM:251505
Corneal Dystrophy, Lattice Type Iiia
Lattice corneal dystrophy, Corneal erosion OMIM:608471
Anterior Segment Dysgenesis 3
Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e... OMIM:601631
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Leber Congenital Amaurosis 1
Keratoconus, Optic disc drusen, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, P... OMIM:204000
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr... OMIM:180104
Edict Syndrome
Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris OMIM:614303
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Idiopathic Panuveitis
Choroidal neovascularization, Cystoid macular edema, Vitreous floaters, Vitreous snowballs, Conju... ORPHA:280921
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio, Corneal stromal edema, Megalocornea OMIM:617272
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Corneal dystrophy, Developmental cataract ORPHA:2572
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentrati... OMIM:616834
Microphthalmia/Coloboma 7
Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Nathalie Syndrome
Cataract, Abnormal EKG OMIM:255990
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Macular coloboma, Posterior subcapsular cataract, Abnormal corneal e... ORPHA:364055
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Retinal detachment, Microcornea, Chor... OMIM:612109
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ... OMIM:193230
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Epistaxis, Cerebral hemorrhag... ORPHA:3002
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Chorioretinal coloboma, Iris coloboma OMIM:601706
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Morquio Syndrome C
Corneal opacity OMIM:252300
Galactosemia Ii
Cataract OMIM:230200
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Galactosemia Iv
Cataract OMIM:618881
Retinal Capillary Malformation
Retinal exudate, Retinal capillary hemangioma, Vitreous floaters, Hyphema, Epiretinal membrane, C... ORPHA:71213
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Coloboma, Abnorma... ORPHA:2334
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C... OMIM:613731
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Retinal dystrophy, Microcornea, Remnants of the hyaloid vascular system, Ch... ORPHA:231736
Glycogen Storage Disease Vi
Hypertriglyceridemia, Failure to thrive in infancy, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Sveinsson Chorioretinal Atrophy
Astigmatism, Peripapillary chorioretinal atrophy OMIM:108985
Foveal Hypoplasia 2
Optic nerve misrouting, Astigmatism, Foveal hyperpigmentation, Axenfeld anomaly, Posterior embryo... OMIM:609218
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Oculocutaneous Albinism Type 6
Abnormal foveal morphology on macular OCT, Aplasia/Hypoplasia of the macula, Abnormal fundus morp... ORPHA:370097
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Ven... OMIM:604213
Bilateral Acute Depigmentation Of The Iris
Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe... ORPHA:69736
Corneal Dystrophy, Gelatinous Drop-Like
Corneal dystrophy OMIM:204870
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Morm Syndrome
Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretinal coloboma... ORPHA:1473
Sympathetic Ophthalmia
Retinal detachment, Vitreous floaters, Posterior uveitis, Anterior chamber cells, Retinal hemorrh... ORPHA:79098
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Adult-Onset Foveomacular Vitelliform Dystrophy
Choroideremia, Iris hypopigmentation, Retinal nonattachment, Vitelliform-like macular lesions ORPHA:99000
Macular Degeneration, Age-Related, 1
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... OMIM:603075
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Chorioretinal coloboma, Iris coloboma OMIM:120433
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Brittle Cornea Syndrome 1
Keratoconus, Decreased corneal thickness, Abnormal cornea morphology, Keratoglobus OMIM:229200
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Cataract 47
Cataract, Microcornea OMIM:612018
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Microcornea, Absent foveal reflex, Peripheral retinal atrophy, Iris coloboma OMIM:615147
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia OMIM:608320
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ocular anterior segment dysgenesis, Band keratopathy, Hypoplasia of the iris, Anterior synechiae ... OMIM:614195
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Juvenile Xanthogranuloma
Hyphema, Iritis, Uveitis, Asymmetry of iris pigmentation ORPHA:158000
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia ... OMIM:602482
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Isolated Aniridia
Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia ORPHA:250923
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,... OMIM:613270
Dermatitis, Atopic
Cataract, Keratoconus, Conjunctivitis OMIM:603165
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem... OMIM:611040
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of the fundus, Blue irides, Macular hypoplasia OMIM:606574
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Tietz Albinism-Deafness Syndrome
Hypopigmentation of the fundus, Blue irides, Heterochromia iridis OMIM:103500
Bilateral Striopallidodentate Calcinosis
Subcutaneous hemorrhage, Corneal opacity ORPHA:1980
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Late-Onset Retinal Degeneration
Iris transillumination defect, Drusen, Choroidal neovascularization, Patchy atrophy of the retina... ORPHA:67042
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Retinal calcification, Hypocalcemia, Papilledema, Basal ganglia calci... OMIM:127000
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Cataract, Increased left ventricular end-diastolic volume, Dilated cardi... OMIM:615184
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Ventriculomegaly, Mild malformation of cortical development, Abnormal... ORPHA:500166
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis, Buphthalmos OMIM:251750
2Q24 Microdeletion Syndrome
Abnormality iris morphology, Coloboma, Cataract ORPHA:1617
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy, Hypertrophic cardiomyopathy ORPHA:1369
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Purpura, Pulmonary embolism OMIM:612304
Stickler Syndrome, Type V
Cataract, Vitreoretinopathy, Retinal detachment OMIM:614284
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Chorioretinal scar, Iris atrophy, Heterochromia iridis, Vitr... ORPHA:263479
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Microphthalmia, Isolated 6
Microcornea, Retinal fold OMIM:613517
Coats Disease
Retinal telangiectasia, Exudative retinal detachment, Leukocoria OMIM:300216
Retinoblastoma
Hypopyon, Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Hetero... ORPHA:790
Biemond Syndrome Ii
Iris coloboma OMIM:210350
Woolly Hair
Cataract, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
Cataract 17, Multiple Types
Nuclear cataract, Developmental cataract, Pulverulent cataract, Microcornea OMIM:611544
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphth... OMIM:212550
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Morning Glory Disc Anomaly
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Iris coloboma OMIM:613702
Vernal Keratoconjunctivitis
Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat... ORPHA:70476
X-Linked Recessive Ocular Albinism
Astigmatism, Iris hypopigmentation, Hypoplasia of the fovea, Abnormal macular morphology, Abnorma... ORPHA:54
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Retinitis Pigmentosa 97
Macular degeneration, Rod-cone dystrophy, Iris atrophy OMIM:620422
Microphthalmia, Syndromic 13
Microcornea, Chorioretinal coloboma, Iris coloboma OMIM:300915
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring OMIM:602082
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus, Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Keratoconus, Ventricular escape rhythm, Arrhythmia, Retinal deg... ORPHA:542306
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia, Failure to thrive OMIM:615863
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Retinal dysplasia, Developmental cataract, Posterior synechiae of the anterior cha... OMIM:613154
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Ectopia lentis, Abnormality of retinal pigmentation, Iris coloboma ORPHA:1259
Hec Syndrome
Cardiomyopathy, Developmental cataract, Abnormal retinal vascular morphology, Arrhythmia, Abnorma... ORPHA:2119
Juvenile Glaucoma
Abnormal anterior chamber morphology, Temporal optic disc pallor, Abnormality iris morphology, Re... ORPHA:98977
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Shallow anterior chamber, Flat cornea, Chorioretinal coloboma, Optic disc coloboma, ... OMIM:602499
Exudative Vitreoretinopathy 6
Falciform retinal fold, Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the ret... OMIM:616468
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Delayed early-childhood social milestone development, Microlis... OMIM:617090
Dystonia 31
Abnormal posturing OMIM:619565
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion OMIM:608470
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Brittle Cornea Syndrome
Corneal erosion, Keratoglobus, Retinal detachment, Corneal dystrophy, Decreased corneal thickness... ORPHA:90354
Retinitis Pigmentosa 2
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,... OMIM:312600
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria... OMIM:619649
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Hypertension, Ectopia pupillae ORPHA:1885
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Ocular anterior segment dysgenesis, Peters anomaly, Coloboma OMIM:610023
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Iris coloboma, Anterior synechiae of the anterior chamber, Microcornea ORPHA:3214
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Aniridia 3
Cataract, Aniridia OMIM:617142
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Microcornea, Developmental cataract, Nuclear c... OMIM:604307
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Retinal dystrophy, Sensorineural hearing impairment, Elevated circulating phytanic a... OMIM:266510
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Posterior subcapsular cataract, Microcornea, Chorioretinal degeneration OMIM:615458
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Griscelli Syndrome Type 3
Iris hypopigmentation ORPHA:79478
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Hyperautofluorescent retinal lesi... OMIM:618613
Aniridia 1
Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic nerve hypoplasia, ... OMIM:106210
Retinoblastoma
Retinoblastoma, Retinal calcification, Leukocoria, Vitreous hemorrhage, Vitritis OMIM:180200
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Retinal calcification, Papilledema, Basal ganglia calcification, Hypocalce... ORPHA:93325
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Steatorrhea, Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis OMIM:110150
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Dysplastic corpus callosum, Secondary microcephaly, Reduced cerebral white matter volume, Hyperin... OMIM:620317
Granular Corneal Dystrophy Type I
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... ORPHA:98962
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Arthrogryposis, Distal, Type 5
Astigmatism, Keratoglobus, Keratoconus, Abnormality of retinal pigmentation, Retinal fold OMIM:108145
Epithelial Recurrent Erosion Dystrophy
Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,... ORPHA:293381
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Failure to thrive, Microcephaly OMIM:618276
Potocki-Lupski Syndrome
Failure to thrive, Hypocholesterolemia, Small for gestational age OMIM:610883
Granular Corneal Dystrophy Type Ii
Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube... ORPHA:98963
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation ORPHA:171844
Microphthalmia/Coloboma 5
Chorioretinal coloboma, Iris coloboma OMIM:611638
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal... ORPHA:171673
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis ORPHA:411777
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Weill-Marchesani Syndrome 3
Microspherophakia, Pulmonic stenosis, Aortic valve stenosis, Ectopia lentis, Shallow anterior cha... OMIM:614819
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Linear Verrucous Nevus Syndrome
Aplasia/Hypoplasia of the fovea, Retinopathy, Cataract, Abnormal cornea morphology, Iris coloboma ORPHA:2611
Traboulsi Syndrome
Spherophakia, Phakodonesis, Iris atrophy, Ectopia lentis, Shallow anterior chamber, Cataract, Spo... OMIM:601552
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Abnormal pupil morphology, Arrhythmia ORPHA:2151
Enhanced S-Cone Syndrome
Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy OMIM:268100
Distal Deletion 6P
Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto... ORPHA:96125
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Hypertension, Retinal detachment, Telangiectasia OMIM:219250
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elevated circulating methylsuccinic acid concentrat... OMIM:618156
Lissencephaly Due To Tuba1A Mutation
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly, Polymicrogyria, Hyp... ORPHA:171680
Fuchs Endothelial Corneal Dystrophy
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of... ORPHA:98974
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Failure to thrive, Conjugated... OMIM:619868
Retinitis Pigmentosa
Optic atrophy, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Keratocon... ORPHA:791
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Hypocholesterolemia ORPHA:71
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Hypertension, Retinal h... OMIM:609049
Supernumerary Nostril
Microcornea, Developmental cataract ORPHA:141096
Collagenoma, Familial Cutaneous
Congestive heart failure, Right ventricular cardiomyopathy, Atrial fibrillation, Vasculitis, Card... OMIM:115250
Cataract 6, Multiple Types
Choroideremia, Developmental cataract, Posterior polar cataract OMIM:116600
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Tubulointerstitial Nephritis And Uveitis Syndrome
Choroidal neovascularization, Iris nevus, Cystoid macular edema, Chorioretinal scar, Anterior cha... ORPHA:91500
Microphthalmia/Coloboma 9
Macular coloboma, Ocular anterior segment dysgenesis, Retinal detachment, Microcornea, Sclerocorn... OMIM:615145
Osteoporosis-Pseudoglioma Syndrome
Retinal calcification, Vitreoretinopathy, Exudative retinopathy OMIM:259770
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Abnormality iris morphology, Optic nerve hypoplasia, Coloboma, Retinal detachment,... ORPHA:370959
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Microphthalmia/Coloboma 12
Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colo... OMIM:120200
Facial Spasm
Anisocoria OMIM:134300
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Herpes Simplex Virus Stromal Keratitis
Deep anterior chamber, Corneal stromal edema, Descemet Membrane Folds, Conjunctival hyperemia, He... ORPHA:137599
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Failure to thrive OMIM:608776
Cataract 16, Multiple Types
Lenticonus, Developmental cataract, Retinal dystrophy, Posterior polar cataract OMIM:613763
Dermochondrocorneal Dystrophy
Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract OMIM:221800
Leptospirosis
Optic neuritis, Chorioretinitis, Hypotension, Retinal hemorrhage, Macular cotton wool spot, Peric... ORPHA:509
Fish-Eye Disease
Angina pectoris, Corneal opacity ORPHA:79292
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Decreased corneal thickness, Abnormal optic disc morphology ORPHA:293967
Neurotrophic Keratopathy
Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr... ORPHA:137596
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Neonatal death OMIM:618810
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Woolly Hair Nevus
Persistent pupillary membrane, Heterochromia iridis ORPHA:79414
Pseudoxanthoma Elasticum
Congestive heart failure, Gastrointestinal hemorrhage, Choroidal neovascularization, Retinal peau... OMIM:264800
Cataract 3, Multiple Types
Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract OMIM:601547
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Epistaxis, Diffuse alveolar hemorr... ORPHA:99827
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Sensorineural hearing impairment, Decreased body weight, Elevated circulating crea... ORPHA:96180
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Cinca Syndrome
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, Skin rash, Hea... OMIM:607115
Weiss-Kruszka Syndrome
Dysplastic corpus callosum ORPHA:502430
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Microtriplication 11Q24.1
Keratoconus ORPHA:289522
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Keratoconus, Optic nerve hypoplasia, Optic disc hypoplasia ORPHA:401777
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Polymicrogyria, Decreased body weight, Microcephaly, Short stature, A... OMIM:614833
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Chorioretinal atrophy, Corneal crystals, Retinal degeneration OMIM:210370
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Supravalvar pulmonary stenosis, Pulmonic stenosis, Devel... OMIM:620185
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena, Retinal hemorrhage, Hypertro... ORPHA:464321
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Cataract 41
Nuclear cataract OMIM:116400
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum, Intrauterine growth retardation, Small for gestational age OMIM:620135
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Corticospinal tract hypoplasia, ... ORPHA:255138
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Ecchymosis, Epistaxis, Subconjunctival hemorrhage, Bruisi... ORPHA:464329
Marburg Hemorrhagic Fever
Prolonged prothrombin time, Abnormal bleeding, Bradycardia, Petechiae, Capillary leak, Hypotensio... ORPHA:99826
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Short Syndrome
Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post... ORPHA:3163
Lujo Hemorrhagic Fever
Myocarditis, Purpura, Bradycardia, Hypotension, Ecchymosis, Subconjunctival hemorrhage, Excessive... ORPHA:319213
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular ... OMIM:616900
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Pericarditis, Failu... OMIM:212065
Congenital Microcoria
Iris transillumination defect, Astigmatism, Corneal stromal edema, Megalocornea, Hypoplastic iris... ORPHA:566
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Melena, Petechiae, Capillary leak, Hypertension, Hypotension, Internal hemorrhage, E... ORPHA:340
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Periventricular white matter hyperintensities, Secondary microcephaly... OMIM:619737
Alagille Syndrome
Keratoconus, Corneal dystrophy, Hypertension, Telangiectasia of the skin, Abnormal pupil morphology ORPHA:52
Proteus-Like Syndrome
Retinal detachment, Heterochromia iridis, Cataract, Limbal dermoid, Abnormal pupil morphology ORPHA:2969
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Familial Dysautonomia
Optic atrophy, Orthostatic hypotension, Corneal erosion, Hypertension, Corneal opacity, Heterochr... ORPHA:1764
Warburg-Cinotti Syndrome
Corneal neovascularization, Retinal dystrophy, Limbal stem cell deficiency, Decreased corneal thi... OMIM:618175
Greig Cephalopolysyndactyly Syndrome
Keratoconus OMIM:175700
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Atopic Keratoconjunctivitis
Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ... ORPHA:163934
Neuhauser Syndrome
Corneal arcus, Iris transillumination defect, Iridodonesis, Retinal detachment, Megalocornea, Hyp... OMIM:249310
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Retinal Arteries, Tortuosity Of
Retinal arteriolar tortuosity, Retinal hemorrhage OMIM:180000
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Coloboma, Retinal atrophy, Corneal opacity, Cone/cone-rod dystrophy, Abnormalit... ORPHA:85167
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Microcephaly, Overfriendliness, Growth delay OMIM:618010
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Conjunctivitis OMIM:242150
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Aniridia, Microcornea, Megalocornea, Hypoplasia of the iris, Posterior embryotoxon, Ri... OMIM:180500
Autosomal Recessive Cutis Laxa Type 2A
Dysplastic corpus callosum, Secondary microcephaly, Postnatal growth retardation, Dandy-Walker ma... ORPHA:357058
Mucolipidosis Iv
Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly OMIM:252650
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ischemic stroke, Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity... OMIM:175780
Abetalipoproteinemia
Steatorrhea, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hyperbilirubinemia, Ab... ORPHA:14
Familial Cold Autoinflammatory Syndrome 1
Elevated circulating C-reactive protein concentration, Arthritis, Skin rash, Hearing impairment, ... OMIM:120100
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Retinal arterial tortuosity, Retinal detachment, Tricuspid regurgitation, Retinal hemorrhage, Cer... OMIM:620371
Pontocerebellar Hypoplasia Type 2
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Abnormal cortical gyration, Progre... ORPHA:2524
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly, Short stature, Failu... OMIM:619179
Alg12-Cdg
Retinal detachment, Sensorineural hearing impairment, Abnormal pinna morphology, Chronic rhinitis... ORPHA:79324
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Progressive microcephaly, Multifoc... ORPHA:488627
Nail-Patella Syndrome
Microphakia, Keratoconus, Microcornea, Antecubital pterygium, Cataract, Lester's sign OMIM:161200
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Truncal obesity, Increased LDL cholesterol concentration, Abdominal obesity... OMIM:615812
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Coloboma, Sclerocornea, Ectopia pupillae, Cataract OMIM:615877
Oculo-Palato-Cerebral Syndrome
Cataract, Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Megalocornea-Intellectual Disability Syndrome
Abnormal anterior chamber morphology, Iridodonesis, Astigmatism, Megalocornea, Hypoplasia of the ... ORPHA:2479
Granulomatosis With Polyangiitis
Localized pulmonary hemorrhage, Retinal hemorrhage, Keratitis, Conjunctivitis, Diffuse alveolar h... OMIM:608710
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Supraventricular arrhythmia, Retinal hemorrhage, Raynaud phenomenon, Lacunar stroke, Retinal arte... OMIM:611773
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Microcephaly, Agenesis of corpus callosum OMIM:619955
Trichinellosis
Retinal hemorrhage, Anisocoria, Abnormal optic nerve morphology, Conjunctival hyperemia, Abnormal... ORPHA:863
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology ORPHA:250999
Even-Plus Syndrome
Dysplastic corpus callosum, Severe short stature, Agenesis of corpus callosum OMIM:616854
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Incontinentia Pigmenti
Abnormal chorioretinal morphology, Congestive heart failure, Retinal detachment, Retinal vascular... ORPHA:464
Cinca Syndrome
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Inflammatory abnormality ... ORPHA:1451
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Simplified gyral pattern, Failure to thrive, Microcephaly OMIM:620001
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Cataract 30, Multiple Types
Pulverulent cataract, Diffuse nuclear cataract, Posterior polar cataract OMIM:116300
Fetal Cytomegalovirus Syndrome
Petechiae, Optic atrophy, Chorioretinitis, Retinal hemorrhage ORPHA:294
Angelman Syndrome
Optic atrophy, Astigmatism, Keratoconus, Iris hypopigmentation, Optic disc pallor ORPHA:72
Nephronophthisis 11
Retinal degeneration, Anisocoria OMIM:613550
Costello Syndrome
Pulmonic stenosis, Keratoconus, Hypertrophic cardiomyopathy ORPHA:3071
Incontinentia Pigmenti
Optic atrophy, Retinal detachment, Retinal vascular proliferation, Retinal hemorrhage, Keratitis,... OMIM:308300
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Arterial Tortuosity Syndrome
Ischemic stroke, Astigmatism, Aortic regurgitation, Keratoconus, Hypertension, Aortic valve steno... OMIM:208050
Muckle-Wells Syndrome
Optic atrophy, Recurrent aphthous stomatitis, Arthritis, Skin rash, Episcleritis, Splenomegaly, C... ORPHA:575
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Optic atrophy, Astigmatism, Ectopia pupillae OMIM:618727
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Retinal thinning, Abnormality of macular pigmentation, Retinal atrophy, Corneal opacity, Cone/con... OMIM:608940
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Hypertension, Corneal scarring, Retinal hemorrhage, Tachycardia OMIM:614653
Cataract 20, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract OMIM:116100
Huntington Disease-Like 1
Abnormal posturing ORPHA:157941
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Obesity, Hypoalbuminemia, Increased alpha-globulin, Hypercholest... ORPHA:86816
Kaufman Oculocerebrofacial Syndrome
Abnormal pinna morphology, Low-set ears, Failure to thrive, Hypocholesterolemia, Optic disc pallor OMIM:244450
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Retinal exudate, Retinal hemorrhage, Vasculitis in the skin, Punctat... OMIM:192315
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis in the skin, Vasculitis, Hematochezia, Subconjunctival hemorrhage OMIM:617718
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Congestive heart failure, Gastrointestinal hemorrhage, Retinal detachment, Keratoconus, Microcorn... OMIM:225400
Cataract 15, Multiple Types