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Gene: Rbm25 MGI:1914289

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Gene Summary

Name:
RNA binding motif protein 25
Synonyms:
2610015J01Rik,  A130095G20Rik,  2600011C06Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
anophthalmia Rbm25em1(IMPC)J HET   Early adult 6.00×10-06
preweaning lethality, complete penetrance Rbm25em1(IMPC)J HOM   Early adult 0.00
corneal opacity Rbm25em1(IMPC)J HET Early adult 1.77×10-06
embryonic lethality prior to organogenesis Rbm25em1(IMPC)J HOM   E9.5 0.00
decreased body length Rbm25em1(IMPC)J HET Early adult 6.98×10-05
cataract Rbm25em1(IMPC)J HET   Early adult 1.95×10-06

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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Combined SHIRPA and Dysmorphology

Images

2 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Human diseases caused by Rbm25 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Rbm25 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia, Isolated 3
Microphthalmia, Sclerocornea, Anophthalmia OMIM:611038
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
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
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
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Iris coloboma, Bilateral microphthalmos, Anophthalmia OMIM:611638
Aniridia 3
Cataract OMIM:617142
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Microcornea, Corneal opacity ORPHA:2432
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Corneal Hypesthesia, Familial
Decreased corneal sensation, Recurrent corneal erosions OMIM:122450
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Microphthalmia, Sclerocornea OMIM:269400
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Microphthalmia, Progressive cataract OMIM:604219
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Morquio Syndrome C
Corneal opacity OMIM:252300
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Trichomegaly
Cataract OMIM:190330
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Lattice Corneal Dystrophy Type I
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... ORPHA:98964
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Opacification of the corneal stroma, ... ORPHA:98960
Macular Dystrophy, Corneal
Corneal dystrophy, Punctate opacification of the cornea, Recurrent corneal erosions OMIM:217800
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Microphthalmia,... ORPHA:83461
Cataract 11, Multiple Types
Cataract, Microphthalmia OMIM:610623
Oculoauricular Syndrome
Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Micro... OMIM:612109
Nathalie Syndrome
Cataract ORPHA:2663
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal erosion OMIM:608470
Galactosialidosis
Corneal opacity ORPHA:351
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Autosomal Dominant Keratitis
Aniridia, Bilateral microphthalmos, Macular hypoplasia, Cataract, Keratitis, Microcornea, Opacifi... ORPHA:2334
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Winchester Syndrome
Corneal opacity OMIM:277950
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Familial pterygium of the conjunctiva
Opacification of the corneal stroma ORPHA:2989
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Galactosemia Iv
Cataract OMIM:618881
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Microphthalmia ORPHA:1473
X-Linked Retinoschisis
Cataract ORPHA:792
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Microphthalmia, Sclerocornea, Anophthalmia OMIM:615877
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Corneal Endothelial Dystrophy
Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A... OMIM:217700
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Macular hypoplasia, Microcornea OMIM:610202
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Apolipoprotein A-I Deficiency
Corneal opacity ORPHA:425
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Aniridia 2
Cataract, Aniridia OMIM:617141
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Cataract 47
Cataract, Microcornea OMIM:612018
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal degeneration, Corneal stromal edema, Corneal guttata, Corneal dy... OMIM:136800
Galactosemia Ii
Cataract OMIM:230200
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Microphthalmia With Brain And Digit Anomalies
Iris coloboma, Cataract, Microcornea, Microphthalmia, Sclerocornea, Anophthalmia ORPHA:139471
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal opacity, Increased corneal thickness, Corneal stromal edema, Abnor... ORPHA:293603
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Edict Syndrome
Keratoconus, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism OMIM:614303
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Macular Corneal Dystrophy
Decreased corneal sensation, Decreased corneal thickness, Opacification of the corneal stroma, Co... ORPHA:98969
Isolated Optic Nerve Hypoplasia/Aplasia
Unilateral microphthalmos, Optic disc hypoplasia, Aplasia/Hypoplasia of the iris, Corneal opacity... ORPHA:137902
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Isolated Aniridia
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula ORPHA:250923
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Limbal Stem Cell Deficiency
Decreased corneal reflex, Generalized opacification of the cornea, Opacification of the corneal e... ORPHA:171673
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract, Microphthalmia OMIM:120433
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Microphthalmia, Syndromic 5
Cataract, Optic nerve hypoplasia, Microcornea, Microphthalmia, Anophthalmia OMIM:610125
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia ORPHA:2528
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Cataract 15, Multiple Types
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract OMIM:615274
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Cornea Plana 2, Autosomal Recessive
Flat cornea, Decreased corneal thickness, Corneal arcus OMIM:217300
Coats Disease
Abnormal anterior chamber morphology, Cataract, Aplasia/Hypoplasia of the iris ORPHA:190
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cataract, Bilateral microphthalmos OMIM:608763
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Cataract 41
Developmental cataract, Nuclear cataract OMIM:116400
Nathalie Syndrome
Cataract OMIM:255990
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Opacification of the corneal stroma, ... OMIM:310600
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Keratitis, Corneal guttata, Abnormal Descemet membrane morphology, Corneal... OMIM:613270
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Iris coloboma, Microphthalmia OMIM:212550
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Recurrent corneal erosions, Subepithelial corneal opacities, Corneal scarr... ORPHA:293381
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Juvenile epithelial corneal dystrophy, Corneal dystrophy OMIM:602082
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Microphthalmia OMIM:616171
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Cataract 17, Multiple Types
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract OMIM:611544
Proximal Myotonic Myopathy
Cataract ORPHA:606
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Congenital Disorder Of Glycosylation, Type Ii
Cataract OMIM:607906
Xp22.3 Microdeletion Syndrome
Aplasia/Hypoplasia affecting the eye, Opacification of the corneal stroma ORPHA:1643
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Microphthalmia, Sclerocornea, Anophthalmia ORPHA:77298
Bartsocas-Papas Syndrome 2
Axillary pterygium, Corneal opacity, Microphthalmia, Antecubital pterygium, Popliteal pterygium OMIM:619339
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Anterior Segment Dysgenesis 3
Rieger anomaly, Axenfeld anomaly, Posterior embryotoxon, Ectopia pupillae, Peters anomaly, Abnorm... OMIM:601631
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Iris pigment dispersion, Pigment deposition in the trabecular meshwor... ORPHA:69736
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Peters anomaly, Optic nerve aplasia, Corneal opacity OMIM:120200
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis OMIM:225200
Anophthalmia Plus Syndrome
Iris coloboma, Anophthalmia ORPHA:1104
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Cataract, Corneal opacity OMIM:613153
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Brittle Cornea Syndrome 2
Keratoconus, Decreased corneal thickness, Keratoglobus, Megalocornea, Flat cornea, Sclerocornea OMIM:614170
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Leukocoria, Iris coloboma, ... OMIM:221900
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Cataract, Band keratopathy OMIM:604278
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Cataract, Microcornea, Microphthalmia, Astigmatism, Myopic astigmatism OMIM:152950
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Decreased corneal sensation, Corneal perforation, Deep anterior chamber,... ORPHA:137599
Trisomy 13
Iris coloboma, Aplasia/Hypoplasia of the iris, Cataract, Microphthalmia, Anophthalmia ORPHA:3378
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Microphthalmia, Isolated, With Coloboma 9
Iris coloboma, Ocular anterior segment dysgenesis, Microcornea, Microphthalmia, Sclerocornea OMIM:615145
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Retinitis Pigmentosa 84
Cataract OMIM:618220
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Congenital Rubella Syndrome
Microphthalmia, Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Iris coloboma, Microphthalmia, Posterior lenticonus ORPHA:231736
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Walker-Warburg Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Microphthalmia, Anophthalmia ORPHA:899
Rodrigues Blindness
Microcornea, Microphthalmia, Sclerocornea OMIM:268320
Alg8-Cdg
Cataract ORPHA:79325
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Cataract 5, Multiple Types
Anterior polar cataract, Pulverulent cataract, Nuclear cataract, Lamellar cataract, Zonular cataract OMIM:116800
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
Opacification of the corneal stroma OMIM:204850
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Atopic Keratoconjunctivitis
Chemosis, Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Corneal neovascularization ORPHA:163934
Cataract 43
Subcapsular cataract OMIM:616279
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Keratoconjunctivitis sicca, Microcornea, Microphthalmia, Sclerocornea, Corneal dystrophy ORPHA:1806
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Corneal opacity, Cataract, Microphthalmia, Conjunctival hyperemia ORPHA:2399
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Pellagra-Like Syndrome
Cataract OMIM:260650
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae, Microphthalmia OMIM:156900
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Cockayne Syndrome Type 2
Conjunctivitis, Developmental cataract, Anophthalmia ORPHA:90322
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Cataract OMIM:615418
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Microphthalmia OMIM:601794
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Macular agenesis, Ectopia lentis, Hypop... OMIM:106210
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Retinitis Pigmentosa 4
Cataract OMIM:613731
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract, Hypoplasia of the retina OMIM:263100
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Corneal opacity ORPHA:2788
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:613763
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Oculomaxillofacial Dysostosis
Aplasia/Hypoplasia affecting the eye, Corneal opacity ORPHA:1794
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium OMIM:270200
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Microphthalmia ORPHA:363741
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy OMIM:221800
Cataract 30, Multiple Types
Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract OMIM:116300
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Microphthalmia OMIM:169550
Lcat Deficiency
Corneal opacity ORPHA:650
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma OMIM:245900
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Retinitis Pigmentosa 2
Cataract OMIM:312600
Short Syndrome
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Megalocornea, Abnormal anterior c... ORPHA:3163
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cataract, Iris coloboma, Microphthalmia, Anophthalmia ORPHA:2250
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Mietens Syndrome
Cataract, Microcornea, Corneal opacity, Sclerocornea ORPHA:2557
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Megalocornea, Anophthalmia, Corneal dystrophy ORPHA:1101
Alpha-Mannosidosis
Cataract, Corneal opacity ORPHA:61
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Microphakia, Lens subluxation ORPHA:171844
Neurotrophic Keratopathy
Decreased corneal sensation, Corneal perforation, Corneal scarring, Corneal stromal edema, Cornea... ORPHA:137596
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Optic nerve hypoplasia, Corneal opacity ORPHA:496790
Retinitis Pigmentosa 9
Cataract OMIM:180104
Cataract 31, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract OMIM:605387
Fish-Eye Disease
Corneal opacity ORPHA:79292
Nance-Horan Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:627
Scheie Syndrome
Corneal opacity OMIM:607016
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal scarring, Corneal ulceration OMIM:616488
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Sialidosis Type 2
Corneal opacity ORPHA:87876
Usher Syndrome Type 3
Iris hypopigmentation, Astigmatism, Cataract ORPHA:231183
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity OMIM:616603
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Corneal opacity, Cataract, Microphthalmia, Sclerocornea ORPHA:284160
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Coloboma, Ocular, Autosomal Recessive
Cataract, Iris coloboma, Lens subluxation OMIM:216820
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Optic nerve hypoplasia, Microphthalmia OMIM:615181
3Q29 Microduplication Syndrome
Aniridia, Iris coloboma, Cataract, Microphthalmia, Sclerocornea ORPHA:251038
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Keratitis, Corneal opacity OMIM:602562
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Cockayne Syndrome Type 1
Cataract, Conjunctivitis, Anophthalmia ORPHA:90321
Congenital Sialidosis Type 2
Cataract, Developmental cataract, Corneal opacity, Hypoplasia of the fovea ORPHA:93400
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Microcornea, Microphthalmia, Sclerocornea, Anophthalmia ORPHA:564
Cerebrooculofacioskeletal Syndrome 2
Cataract, Developmental cataract, Microphthalmia OMIM:610756
Cataract 40
Sutural cataract, Nuclear cataract OMIM:302200
Vacterl With Hydrocephalus
Microcornea, Microphthalmia, Anophthalmia ORPHA:3412
Sialidosis Type 1
Cataract, Corneal opacity ORPHA:812
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Microphthalmia OMIM:618805
Trisomy 1Q
Anophthalmia ORPHA:261344
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:206900
Ocular Cystinosis
Corneal crystals ORPHA:411641
Achromatopsia 3
Cataract OMIM:262300
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Chromosome 8Q21.11 Deletion Syndrome
Opacification of the corneal stroma OMIM:614230
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Corneal opacity, Ocular albinism, Cataract, Aplasia/Hypoplasia affecting t... ORPHA:2719
Fibular Hemimelia
Abnormal anterior chamber morphology, Anophthalmia ORPHA:93323
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Posterior embryotoxon, Corneal opacity, Hypoplasia of... ORPHA:96125
Sanjad-Sakati Syndrome
Astigmatism, Aplasia/Hypoplasia affecting the eye, Corneal opacity ORPHA:2323
Stromme Syndrome
Iris coloboma, Cataract, Peters anomaly, Microcornea, Microphthalmia, Sclerocornea, Optic nerve h... OMIM:243605
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Sclerocornea, Abnormal anterior chamber morphology, Limba... OMIM:613001
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity ORPHA:309288
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Zellweger Syndrome
Cataract, Brushfield spots, Corneal opacity, Posterior embryotoxon ORPHA:912
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Juvenile Sialidosis Type 2
Cataract, Corneal opacity ORPHA:93399
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Keratitis, Opacification of the corneal stroma, Corneal ulceration, Recurrent c... OMIM:256800
Otodental Syndrome
Iris coloboma, Lens coloboma, Cataract, Microcornea, Microphthalmia ORPHA:2791
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Xeroderma Pigmentosum, Complementation Group D
Cataract, Conjunctivitis, Keratoconjunctivitis sicca, Keratitis, Microphthalmia, Corneal neovascu... OMIM:278730
Hurler-Scheie Syndrome
Corneal opacity OMIM:607015
Multiple Sulfatase Deficiency
Cataract, Corneal opacity ORPHA:585
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Lowry-Maclean Syndrome
Developmental glaucoma, Megalocornea, Corneal opacity ORPHA:2409
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Corneal erosion OMIM:614878
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Optic nerve hypoplasia, Corneal opacity OMIM:301056
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Corneal opacity, Cataract, Megalocornea, Peters anomaly, Optic nerve hypoplasia, Mic... OMIM:236670
Scheie Syndrome
Corneal opacity ORPHA:93474
Microphthalmia With Linear Skin Defects Syndrome
Posterior embryotoxon, Corneal opacity, Microphthalmia, Sclerocornea, Anophthalmia ORPHA:2556
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Hemifacial Microsomia
Microphthalmia, Limbal dermoid, Anophthalmia OMIM:164210
Oculocerebrocutaneous Syndrome
Iris coloboma, Corneal opacity ORPHA:1647
Warburg Micro Syndrome 2
Cataract, Developmental cataract, Microcornea, Microphthalmia OMIM:614225
Holoprosencephaly
Iris coloboma, Microphthalmia, Anophthalmia ORPHA:2162
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia OMIM:601186
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Cataract, Microphthalmia, Anophthalmia ORPHA:2526
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Cystinosis
Corneal opacity ORPHA:213
Ifap Syndrome 2
Cataract, Keratoconjunctivitis sicca, Keratitis OMIM:619016
Familial Dysautonomia
Corneal erosion, Abnormal pupil morphology, Corneal opacity, Heterochromia iridis ORPHA:1764
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
Cerebrooculonasal Syndrome
Anophthalmia OMIM:605627
Microgastria-Limb Reduction Defects Association
Anophthalmia OMIM:156810
Phace Syndrome
Heterochromia iridis, Iris coloboma, Lens coloboma, Cataract, Optic nerve hypoplasia, Microphthal... ORPHA:42775
Fucosidosis
Corneal opacity ORPHA:349
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Polycoria, Corneal opacity, Hypoplasia of the iris, Ectopia pupillae, Mic... OMIM:175780
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Cataract, Opacification of the corneal stroma OMIM:211370
Hurler Syndrome
Opacification of the corneal stroma, Corneal opacity OMIM:607014
Joubert Syndrome 21
Anophthalmia OMIM:615636
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Axenfeld-Rieger Syndrome, Type 2
Anterior chamber synechiae, Microcornea, Opacification of the corneal stroma OMIM:601499
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Focal Dermal Hypoplasia
Ectopia lentis, Iris coloboma, Corneal opacity, Hypoplasia of the iris, Microphthalmia ORPHA:2092
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma OMIM:251290
Mosaic Trisomy 9
Microphthalmia, Corneal opacity ORPHA:99776
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Iris coloboma, Microphthalmia, Sclerocornea OMIM:309801
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Gm1 Gangliosidosis
Corneal opacity ORPHA:354
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Brachymesomelia-Renal Syndrome
Opacification of the corneal stroma OMIM:113470
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Fraser Syndrome 1
Bilateral microphthalmos, Corneal opacity, Anophthalmia OMIM:219000
Schimke Immuno-Osseous Dysplasia
Corneal opacity ORPHA:1830
Farber Disease
Opacification of the corneal stroma, Corneal opacity, Abnormal conjunctiva morphology ORPHA:333
Mucopolysaccharidosis, Type Vii
Corneal opacity OMIM:253220
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Corneal opacity ORPHA:364577
Incontinentia Pigmenti
Microphthalmia, Cataract, Keratitis, Corneal opacity ORPHA:464
Fryns Syndrome
Microphthalmia, Corneal opacity ORPHA:2059
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Microphthalmia, Syndromic 2
Developmental cataract, Iris coloboma, Microcornea, Microphthalmia, Anophthalmia OMIM:300166
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287
Subaortic Stenosis--Short Stature Syndrome
Opacification of the corneal stroma, Microcornea, Microphthalmia OMIM:271960
Tangier Disease
Opacification of the corneal stroma OMIM:205400
Histiocytoid Cardiomyopathy
Microphthalmia, Congenital aphakia, Megalocornea, Corneal opacity ORPHA:137675
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Cataract, Opacification of the corneal stroma, Corneal neovascularization OMIM:158310
Focal Dermal Hypoplasia
Aniridia, Ectopia lentis, Iris coloboma, Microphthalmia, Anophthalmia OMIM:305600
Holoprosencephaly 9
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610829
Wilson Disease
Kayser-Fleischer ring ORPHA:905
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Brushfield spots, Opacification of the corneal stroma OMIM:614866
Charge Syndrome
Iris coloboma, Microphthalmia, Anophthalmia ORPHA:138
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Opacification of the corneal stroma OMIM:214110
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Cataract, Corneal opacity ORPHA:1052
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Mucolipidosis Iii Alpha/Beta
Hyperopic astigmatism, Opacification of the corneal stroma OMIM:252600
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Chromosome 6Pter-P24 Deletion Syndrome
Posterior embryotoxon, Axenfeld anomaly, Ocular anterior segment dysgenesis, Peters anomaly, Opac... OMIM:612582
Norrie Disease
Anterior chamber synechiae, Ectopia lentis, Corneal opacity, Hypoplasia of the iris, Cataract, Mi... ORPHA:649
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Microphthalmia, Syndromic 6
Microcornea, Microphthalmia, Sclerocornea, Anophthalmia OMIM:607932
De Barsy Syndrome
Cataract, Corneal opacity ORPHA:2962
Schimke Immunoosseous Dysplasia
Astigmatism, Opacification of the corneal stroma OMIM:242900
3Mc Syndrome 3
Corneal opacity OMIM:248340
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Corneal opacity, Keratoconjunctivitis sicca, Optic nerve hypoplasia, Corneal dystrophy ORPHA:495875
Mucopolysaccharidosis Type 1
Corneal opacity ORPHA:579
Alpha-Mannosidosis, Infantile Form
Cataract, Astigmatism, Corneal opacity ORPHA:309282
Mucopolysaccharidosis Type 3
Cataract, Opacification of the corneal stroma, Corneal opacity ORPHA:581
Tbck-Related Intellectual Disability Syndrome
Corneal opacity ORPHA:488632
Osteoporosis-Pseudoglioma Syndrome
Cataract, Iris atrophy, Microphthalmia, Absent anterior chamber of the eye OMIM:259770
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions OMIM:308205
Branchiooculofacial Syndrome
Cataract, Iris coloboma, Microphthalmia, Anophthalmia OMIM:113620
Congenital Disorder Of Deglycosylation
Corneal opacity, Corneal ulceration OMIM:615273
Moebius Syndrome
Corneal opacity ORPHA:570
Wilson Disease
Kayser-Fleischer ring OMIM:277900
Charge Syndrome
Iris coloboma, Microphthalmia, Anophthalmia OMIM:214800
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy ORPHA:324
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Lentiglobus, Corneal opacity, Cataract, Microphthalmia, Abnormal pupil morphology ORPHA:534
Hurler Syndrome
Corneal opacity ORPHA:93473
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Corneal opacity ORPHA:464311
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Cataract, Opacification of the corneal stroma, Microphthalmia OMIM:251300
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Craniosynostosis With Ocular Abnormalities And Hallucal Defects
Cataract, Microcornea OMIM:608279
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Corneal opacity ORPHA:464306
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma ORPHA:583
Lathosterolosis
Cataract, Opacification of the corneal stroma, Microcornea ORPHA:46059
Mosaic Trisomy 1
Opacification of the corneal stroma, Microphthalmia ORPHA:1692
Encephalocraniocutaneous Lipomatosis
Iris coloboma, Corneal opacity ORPHA:2396
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Brushfield spots, Opacification of the corneal stroma OMIM:214100
Carpenter Syndrome 1
Opacification of the corneal stroma, Microcornea OMIM:201000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Cataract, Megalocornea, Opacification of the corneal stroma, Microphthalmia, Hypopla... OMIM:253280
Oculoectodermal Syndrome
Astigmatism, Opacification of the corneal stroma, Microcornea, Limbal dermoid OMIM:600268
Tangier Disease
Corneal opacity ORPHA:31150
Microphthalmia With Limb Anomalies
True anophthalmia, Microphthalmia ORPHA:1106
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma OMIM:253010
Larsen Syndrome
Corneal opacity OMIM:150250
Spondylodysplastic Ehlers-Danlos Syndrome
Iris coloboma, Corneal opacity, Posterior subcapsular cataract, Megalocornea, Optic nerve hypoplasia ORPHA:536471
Ablepharon Macrostomia Syndrome
Corneal opacity, Corneal erosion ORPHA:920
Neurofibromatosis Type 1
Cataract, Lisch nodules, Corneal opacity, Heterochromia iridis ORPHA:636
Microphthalmia, Syndromic 1
Iris coloboma, Ciliary body coloboma, Microcornea, Microphthalmia, Anophthalmia OMIM:309800
Chime Syndrome
Corneal opacity ORPHA:3474
Cockayne Syndrome B
Hypoplasia of the iris, Cataract, Opacification of the corneal stroma, Microcornea, Microphthalmia OMIM:133540
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Stuve-Wiedemann Syndrome
Opacification of the corneal stroma OMIM:601559
Kindler Epidermolysis Bullosa
Conjunctivitis, Corneal opacity ORPHA:2908
Smith-Lemli-Opitz Syndrome
Cataract, Aplasia/Hypoplasia affecting the eye, Iris coloboma, Sclerocornea ORPHA:818
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal erosion, Corneal opacity, Conjunctivitis, Keratitis, Astigmatism ORPHA:2273
Mucopolysaccharidosis, Type Vi
Opacification of the corneal stroma OMIM:253200
Limb Body Wall Complex
Iris coloboma, Corneal opacity, Lens subluxation ORPHA:2369
Mucopolysaccharidosis Type 2
Corneal opacity ORPHA:580
Peters Plus Syndrome
Anterior chamber synechiae, Iris coloboma, Corneal opacity, Cataract, Peters anomaly, Microcornea ORPHA:709
Bartsocas-Papas Syndrome 1
Axillary pterygium, Pterygium, Opacification of the corneal stroma, Microphthalmia, Corneal ulcer... OMIM:263650
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity ORPHA:217093
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Keratitis, Pterygium, Opacification of the corneal stroma ORPHA:910
Williams Syndrome
Posterior embryotoxon, Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract, Flat cornea, Me... ORPHA:904
Gaucher Disease
Corneal opacity ORPHA:355
Mucolipidosis Ii Alpha/Beta
Megalocornea, Opacification of the corneal stroma OMIM:252500
Osteogenesis Imperfecta
Corneal opacity ORPHA:666
Wolf-Hirschhorn Syndrome
Megalocornea, Iris coloboma, Sclerocornea ORPHA:280
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Corneal opacity ORPHA:2072
Yunis-Varon Syndrome
Cataract, Sclerocornea OMIM:216340
Yunis-Varon Syndrome
Cataract, Bilateral microphthalmos, Microphthalmia, Sclerocornea ORPHA:3472
Lathosterolosis
Cataract, Opacification of the corneal stroma OMIM:607330
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Hutchinson-Gilford Progeria Syndrome
Corneal opacity, Corneal ulceration ORPHA:740
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Cataract, Corneal opacity ORPHA:3455
Cockayne Syndrome A
Cataract, Opacification of the corneal stroma OMIM:216400
Hereditary Acrokeratotic Poikiloderma
Opacification of the corneal stroma, Keratoconjunctivitis ORPHA:2907
Fryns Syndrome
Opacification of the corneal stroma, Microphthalmia OMIM:229850
Digeorge Syndrome
Posterior embryotoxon, Sclerocornea OMIM:188400
Roberts-Sc Phocomelia Syndrome
Cataract, Opacification of the corneal stroma, Microphthalmia OMIM:268300

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rbm25

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rbm25.

No publications found that use IMPC mice or data for Rbm25.

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MGI Allele Allele Type Produced
Rbm25em1(IMPC)J Exon Deletion Mice

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