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Gene: Rbm25 MGI:1914289

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Gene Summary

Name:
RNA binding motif protein 25
Synonyms:
A130095G20Rik,  2610015J01Rik,  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
embryonic lethality prior to organogenesis Rbm25em1(IMPC)J HOM   E9.5 0.00
decreased prepulse inhibition Rbm25em1(IMPC)J HET Early adult 3.81×10-32
anophthalmia Rbm25em1(IMPC)J HET   Early adult 1.04×10-05
preweaning lethality, complete penetrance Rbm25em1(IMPC)J HOM   Early adult 0.00
corneal opacity Rbm25em1(IMPC)J HET Early adult 3.97×10-06
cataract Rbm25em1(IMPC)J HET Early adult 8.79×10-05

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 Skull Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Combined SHIRPA and Dysmorphology

Images

2 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 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, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Microcoria, Anophthalmia, Iris coloboma OMIM:616428
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Dermoids Of Cornea
Corneal opacity OMIM:304730
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
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia, Iris coloboma OMIM:611638
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi... OMIM:610202
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity ORPHA:2432
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 42
Cataract, Developmental cataract OMIM:115900
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Trichomegaly
Cataract OMIM:190330
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Morquio Syndrome C
Corneal opacity OMIM:252300
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Congenital Primary Aphakia
Microphthalmia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye,... ORPHA:83461
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Nathalie Syndrome
Cataract ORPHA:2663
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Galactosialidosis
Corneal opacity ORPHA:351
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... ORPHA:2334
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Galactosemia Iv
Cataract OMIM:618881
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Microphthalmia, Posterior embryotoxon, Iris coloboma ORPHA:1473
X-Linked Retinoschisis
Cataract ORPHA:792
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Microphthalmia With Brain And Digit Anomalies
Cataract, Anophthalmia, Sclerocornea, Microcornea, Microphthalmia, Iris coloboma ORPHA:139471
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Cataract 47
Microcornea, Cataract OMIM:612018
Galactosemia Ii
Cataract OMIM:230200
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma OMIM:614497
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Winchester Syndrome
Corneal opacity OMIM:277950
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Iris coloboma OMIM:120433
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Microphthalmia, Syndromic 5
Cataract, Anophthalmia, Optic nerve hypoplasia, Microcornea, Microphthalmia OMIM:610125
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract ORPHA:2528
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Blepharoptosis, Myopia, And Ectopia Lentis
Increased axial length of the globe, Ectopia lentis OMIM:110150
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Nathalie Syndrome
Cataract OMIM:255990
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Anophthalmia, Sclerocornea, Microcornea, Ectopia pupillae, Microphthalmia OMIM:615877
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Anencephaly 2
Anophthalmia OMIM:619452
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract OMIM:611544
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia, Iris coloboma, Sclerocornea ORPHA:77298
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Proximal Myotonic Myopathy
Cataract ORPHA:606
Xp22.3 Microdeletion Syndrome
Aplasia/Hypoplasia affecting the eye, Opacification of the corneal stroma ORPHA:1643
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium OMIM:619339
Aniridia 3
Aniridia, Cataract OMIM:617142
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... ORPHA:98973
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... OMIM:604307
Anophthalmia Plus Syndrome
Anophthalmia, Iris coloboma ORPHA:1104
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Microphthalmia OMIM:152950
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Trisomy 13
Cataract, Anophthalmia, Aplasia/Hypoplasia of the iris, Microphthalmia, Iris coloboma ORPHA:3378
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Walker-Warburg Syndrome
Anophthalmia, Cataract, Corneal opacity, Microcornea, Microphthalmia, Iris coloboma ORPHA:899
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Retinitis Pigmentosa 40
Cataract OMIM:613801
Rodrigues Blindness
Microcornea, Microphthalmia, Sclerocornea OMIM:268320
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Cataract, Corneal opacity ORPHA:290
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Microphthalmia, Posterior lenticonus, Iris coloboma ORPHA:231736
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma OMIM:252650
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia, Corneal opacity, Peters anomaly OMIM:120200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Cataract, Corneal opacity OMIM:613153
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma OMIM:615145
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma OMIM:212550
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia ORPHA:1806
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Herpes Simplex Virus Stromal Keratitis
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... ORPHA:137599
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Pellagra-Like Syndrome
Cataract OMIM:260650
Microphthalmia, Isolated 5
Microphthalmia, Cataract OMIM:611040
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Cockayne Syndrome Type 2
Anophthalmia, Conjunctivitis, Developmental cataract ORPHA:90322
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Cataract OMIM:601794
Cataract 48
Cataract OMIM:618415
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Corneal opacity ORPHA:2788
Harel-Yoon Syndrome
Corneal opacity, Developmental cataract OMIM:617183
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Cataract ORPHA:1381
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cataract ORPHA:363741
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Oculomaxillofacial Dysostosis
Aplasia/Hypoplasia affecting the eye, Corneal opacity ORPHA:1794
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Optic nerve hypoplasia ORPHA:496790
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia ORPHA:2399
Scheie Syndrome
Corneal opacity OMIM:607016
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Fish-Eye Disease
Corneal opacity ORPHA:79292
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Microphthalmia OMIM:206900
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Cataract 18
Nuclear cataract OMIM:610019
Cataract 41
Nuclear cataract OMIM:116400
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Sialidosis Type 2
Corneal opacity ORPHA:87876
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia, Cataract, Iris coloboma ORPHA:2250
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Alpha-Mannosidosis
Cataract, Corneal opacity ORPHA:61
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Megalocornea, Anophthalmia, Corneal dystrophy ORPHA:1101
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Nance-Horan Syndrome
Microcornea, Microphthalmia, Cataract ORPHA:627
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Pelvis-Shoulder Dysplasia
Microphthalmia, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Conjunctivitis, Corneal opacity OMIM:602562
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Microphthalmia, Iris hypopigmentation ORPHA:284160
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Neurotrophic Keratopathy
Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora... ORPHA:137596
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Vacterl With Hydrocephalus
Microcornea, Microphthalmia, Anophthalmia ORPHA:3412
Cockayne Syndrome Type 1
Anophthalmia, Cataract, Conjunctivitis ORPHA:90321
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma ORPHA:251038
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Cataract, Corneal opacity, Developmental cataract ORPHA:93400
Ocular Cystinosis
Corneal crystals ORPHA:411641
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Trisomy 1Q
Anophthalmia ORPHA:261344
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Meckel Syndrome
Cataract, Anophthalmia, Sclerocornea, Microcornea, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:564
Sialidosis Type 1
Cataract, Corneal opacity ORPHA:812
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Microphthalmia, Iris... OMIM:243605
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity ORPHA:309288
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Cataract, Lens subluxation OMIM:216820
Wagro Syndrome
Aniridia, Cataract, Corneal opacity OMIM:612469
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Lcat Deficiency
Corneal opacity ORPHA:650
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Proboscis Lateralis
Anophthalmia, Cataract, Corneal opacity, Optic nerve hypoplasia, Microcornea, Microphthalmia, Iri... ORPHA:141099
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Fibular Hemimelia
Anophthalmia, Abnormal anterior chamber morphology ORPHA:93323
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Ocular albinism, Aplasia/Hypoplasia affecting the eye, Iris hypopigmen... ORPHA:2719
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity, Aplasia/Hypoplasia affecting the eye ORPHA:2323
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microcornea, Iris transillumination defect, Cataract, Microphthalmia OMIM:617306
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Autosomal Recessive Cutis Laxa Type 2A
Abnormal cornea morphology, Corneal opacity ORPHA:357058
Juvenile Sialidosis Type 2
Cataract, Corneal opacity ORPHA:93399
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Zellweger Syndrome
Brushfield spots, Posterior embryotoxon, Corneal opacity, Cataract ORPHA:912
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... OMIM:256800
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Corneal opacity, Optic nerve hypoplasia OMIM:301056
Cerebrooculonasal Syndrome
Optic nerve hypoplasia, Anophthalmia, Iris coloboma OMIM:605627
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Multiple Sulfatase Deficiency
Cataract, Corneal opacity ORPHA:585
Lowry-Maclean Syndrome
Developmental glaucoma, Megalocornea, Corneal opacity ORPHA:2409
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Optic nerve hypoplasia, Buphthalmos, Peters anomaly, Microphthalmia, M... OMIM:236670
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... OMIM:278730
Scheie Syndrome
Corneal opacity ORPHA:93474
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Microphthalmia, Sclerocornea OMIM:613001
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia, Cataract ORPHA:2526
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Corneal opacity, Sclerocornea, Microphthalmia, Posterior embryotoxon ORPHA:2556
Holoprosencephaly
Microphthalmia, Anophthalmia, Iris coloboma ORPHA:2162
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos OMIM:601186
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Cystinosis
Corneal opacity ORPHA:213
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
Ifap Syndrome 2
Keratitis, Keratoconjunctivitis sicca, Cataract OMIM:619016
Alport Syndrome 2, Autosomal Recessive
Corneal erosion, Cataract, Anterior lenticonus OMIM:203780
Familial Dysautonomia
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity ORPHA:1764
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Cataract, Sclerocornea OMIM:614230
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Hurler-Scheie Syndrome
Corneal opacity OMIM:607015
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Focal Dermal Hypoplasia
Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Microphthalmia, Iris coloboma ORPHA:2092
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Sclerocornea OMIM:300952
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Microphthalmia, Heterochromia irid... ORPHA:42775
Mucopolysaccharidosis, Type Ivb
Corneal opacity, Opacification of the corneal stroma OMIM:253010
Microphthalmia, Syndromic 2
Anophthalmia, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:300166
Fucosidosis
Corneal opacity ORPHA:349
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae OMIM:601499
Chromosome 6Pter-P24 Deletion Syndrome
Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular anterior segment dy... OMIM:612582
Farber Disease
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma ORPHA:333
Gm1 Gangliosidosis
Corneal opacity ORPHA:354
Fraser Syndrome 1
Anophthalmia, Corneal opacity, Bilateral microphthalmos OMIM:219000
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Incontinentia Pigmenti
Keratitis, Microphthalmia, Cataract, Corneal opacity ORPHA:464
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Microphthalmia, Corneal opacity OMIM:601812
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals OMIM:210370
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Mosaic Trisomy 9
Microphthalmia, Corneal opacity ORPHA:99776
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Fryns Syndrome
Microphthalmia, Corneal opacity ORPHA:2059
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Corneal opacity ORPHA:364577
Schimke Immuno-Osseous Dysplasia
Corneal opacity ORPHA:1830
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Sclerocornea, Peters anomaly, Microphthalmia, Iris coloboma OMIM:309801
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... OMIM:175780
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Histiocytoid Cardiomyopathy
Microphthalmia, Megalocornea, Corneal opacity, Congenital aphakia ORPHA:137675
Hurler Syndrome
Corneal opacity, Opacification of the corneal stroma OMIM:607014
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Focal Dermal Hypoplasia
Anophthalmia, Ectopia lentis, Aniridia, Microphthalmia, Iris coloboma OMIM:305600
Tangier Disease
Opacification of the corneal stroma OMIM:205400
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Charge Syndrome
Microphthalmia, Anophthalmia, Iris coloboma ORPHA:138
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma OMIM:251290
Wilson Disease
Kayser-Fleischer ring ORPHA:905
Microphthalmia, Syndromic 6
Microcornea, Microphthalmia, Anophthalmia, Sclerocornea OMIM:607932
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Cataract, Corneal opacity ORPHA:1052
De Barsy Syndrome
Cataract, Corneal opacity ORPHA:2962
Joubert Syndrome 21
Anophthalmia OMIM:615636
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Cataract, Opacification of the corneal stroma OMIM:214110
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... ORPHA:649
Mucopolysaccharidosis Type 3
Fatigable weakness of swallowing muscles, Cataract, Corneal opacity, Opacification of the corneal... ORPHA:581
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Mucopolysaccharidosis, Type Vii
Corneal opacity OMIM:253220
Mucoepithelial Dysplasia, Hereditary
Cataract, Corneal neovascularization, Opacification of the corneal stroma, Keratoconjunctivitis OMIM:158310
3Mc Syndrome 3
Corneal opacity OMIM:248340
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Spondylodysplastic Ehlers-Danlos Syndrome
Corneal opacity, Optic nerve hypoplasia, Posterior subcapsular cataract, Megalocornea, Iris coloboma ORPHA:536471
Pierson Syndrome
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... OMIM:609049
Alpha-Mannosidosis, Infantile Form
Astigmatism, Corneal opacity, Cataract ORPHA:309282
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Buphthalmos, Keratoconjunctivitis sicca ORPHA:495875
Dyggve-Melchior-Clausen Disease
Corneal opacity ORPHA:239
Mucopolysaccharidosis Type 1
Corneal opacity ORPHA:579
Charge Syndrome
Anophthalmia, Cataract, Unilateral microphthalmos, Microphthalmia, Iris coloboma OMIM:214800
Tbck-Related Intellectual Disability Syndrome
Corneal opacity ORPHA:488632
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Hurler Syndrome
Corneal opacity ORPHA:93473
Branchiooculofacial Syndrome
Anophthalmia, Microphthalmia, Cataract, Iris coloboma OMIM:113620
Oculocerebrorenal Syndrome Of Lowe
Cataract, Corneal opacity, Abnormal pupil morphology, Buphthalmos, Lentiglobus, Microphthalmia ORPHA:534
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia, Cataract, Opacification of the corneal stroma OMIM:251300
Moebius Syndrome
Corneal opacity ORPHA:570
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy ORPHA:324
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Corneal opacity ORPHA:464311
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Carpenter Syndrome 1
Microcornea, Opacification of the corneal stroma OMIM:201000
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Corneal opacity ORPHA:464306
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Corneal opacity OMIM:608670
Schimke Immunoosseous Dysplasia
Astigmatism, Opacification of the corneal stroma OMIM:242900
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Corneal opacity OMIM:615273
Lathosterolosis
Microcornea, Cataract, Opacification of the corneal stroma ORPHA:46059
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma ORPHA:583
Mucopolysaccharidosis, Type Vi
Corneal opacity OMIM:253200
Mosaic Trisomy 1
Microphthalmia, Opacification of the corneal stroma ORPHA:1692
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Iris coloboma ORPHA:2396
Tangier Disease
Corneal opacity ORPHA:31150
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity OMIM:274000
Ablepharon Macrostomia Syndrome
Corneal erosion, Corneal opacity ORPHA:920
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Cataract, Opacification of the corneal stroma OMIM:214100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Buphthalmos, Hypoplasia of the retina, Opacification of the corneal stroma, Microphthal... OMIM:253280
Larsen Syndrome
Corneal opacity OMIM:150250
Microphthalmia, Syndromic 1
Anophthalmia, Microcornea, Ciliary body coloboma, Microphthalmia, Iris coloboma OMIM:309800
Chime Syndrome
Corneal opacity ORPHA:3474
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Neurofibromatosis Type 1
Corneal opacity, Cataract, Heterochromia iridis, Lisch nodules ORPHA:636
Oculoectodermal Syndrome
Microcornea, Limbal dermoid, Astigmatism, Opacification of the corneal stroma OMIM:600268
Smith-Lemli-Opitz Syndrome
Aplasia/Hypoplasia affecting the eye, Cataract, Iris coloboma, Sclerocornea ORPHA:818
Limb Body Wall Complex
Lens subluxation, Corneal opacity, Iris coloboma ORPHA:2369
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Cataract, Opacification of the corneal stroma OMIM:614866
Peters Plus Syndrome
Cataract, Corneal opacity, Microcornea, Peters anomaly, Iris coloboma, Anterior chamber synechiae ORPHA:709
Kindler Epidermolysis Bullosa
Conjunctivitis, Corneal opacity ORPHA:2908
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Opacification of the corneal stroma, Microphthalmia, Pterygium, Corneal ulce... OMIM:263650
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Cockayne Syndrome B
Developmental cataract, Microcornea, Hypoplasia of the iris, Opacification of the corneal stroma,... OMIM:133540
Autosomal Dominant Cutis Laxa
Corneal opacity, Developmental cataract ORPHA:90348
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis ORPHA:2273
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Keratitis, Opacification of the corneal stroma, Pterygium ORPHA:910
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea OMIM:619869
Williams Syndrome
Flat cornea, Corneal opacity, Cataract, Blue irides, Aplasia/Hypoplasia of the iris, Megalocornea... ORPHA:904
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity ORPHA:217085
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Mucopolysaccharidosis Type 2
Corneal opacity ORPHA:580
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity ORPHA:217093
Wolf-Hirschhorn Syndrome
Megalocornea, Iris coloboma, Sclerocornea ORPHA:280
Wilson Disease
Kayser-Fleischer ring OMIM:277900
Gaucher Disease
Corneal opacity ORPHA:355
Osteogenesis Imperfecta
Corneal opacity ORPHA:666
Yunis-Varon Syndrome
Microphthalmia, Cataract, Bilateral microphthalmos, Sclerocornea ORPHA:3472
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Corneal opacity ORPHA:2072
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma OMIM:601559
Craniofacial Microsomia 1
Limbal dermoid, Microphthalmia, Anophthalmia OMIM:164210
Lathosterolosis
Cataract, Opacification of the corneal stroma OMIM:607330
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Cataract, Corneal opacity ORPHA:3455
Roberts-Sc Phocomelia Syndrome
Microphthalmia, Cataract, Corneal opacity, Opacification of the corneal stroma OMIM:268300
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Mucolipidosis Ii Alpha/Beta
Megalocornea, Opacification of the corneal stroma OMIM:252500
Hutchinson-Gilford Progeria Syndrome
Corneal ulceration, Corneal opacity ORPHA:740
Hereditary Acrokeratotic Poikiloderma
Opacification of the corneal stroma, Keratoconjunctivitis ORPHA:2907
Fryns Syndrome
Microphthalmia, Opacification of the corneal stroma OMIM:229850
Cockayne Syndrome A
Cataract, Opacification of the corneal stroma OMIM:216400
Digeorge Syndrome
Posterior embryotoxon, Sclerocornea OMIM:188400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Opacification of the corneal stroma, Corneal neovascularization, Recurrent corneal ero... OMIM:308205
Yunis-Varon Syndrome
Cataract, Sclerocornea OMIM:216340

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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