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Gene: Rybp MGI:1929059

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Registered for phenotyping at IMPC

Phenotyping is planned for a knockout strain of this gene but data is not currently available.

Gene Summary

Name:
RING1 and YY1 binding protein
Synonyms:
DEDAF,  2410018J24Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Rybp 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 Rybp by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Coloboma Of Macula
Macular coloboma OMIM:120300
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Retinitis Pigmentosa 42
Peripapillary atrophy, Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Cystoid macu... OMIM:612943
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Macular coloboma, Retinal coloboma OMIM:107550
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Optic disc coloboma, Chorioretinal coloboma, Macular atrophy, Flat cornea, Shallow a... OMIM:602499
Leber Congenital Amaurosis 8
Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia OMIM:613703
Microphthalmia/Coloboma 4
Microcornea, Coloboma OMIM:251505
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Leber Congenital Amaurosis 9
Optic atrophy, Keratoconus, Retinal pigment epithelial mottling, Attenuation of retinal blood ves... OMIM:608553
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Chorioretinal coloboma, Retinal coloboma ORPHA:2921
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the... OMIM:120200
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior seg... ORPHA:83461
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Retinal detachment, Hypoplastic optic chiasm, Retinal coloboma OMIM:615113
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Renal Coloboma Syndrome
Optic nerve dysplasia, Optic disc coloboma, Retinal coloboma ORPHA:1475
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Coloboma Of Macula And Skeletal Anomalies
Macular coloboma OMIM:216800
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Cataract, V... OMIM:143200
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2
Optic atrophy OMIM:620569
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Optic disc coloboma OMIM:169550
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Coloboma, Ocular anterior segment dysgenesis, Developmental cataract ORPHA:324416
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P... OMIM:616394
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Retinal pigment epit... ORPHA:364055
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Aniridia 2
Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Microphthalmia/Coloboma 9
Microcornea, Retinal detachment, Ocular anterior segment dysgenesis, Sclerocornea, Iris coloboma,... OMIM:615145
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Cataract, Retinal thinning, Epir... ORPHA:179
Hypomandibular Faciocranial Dysostosis
Optic disc coloboma OMIM:241310
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Increased cup-to-disc ratio, Megalocornea OMIM:617272
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma OMIM:614497
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Bornholm Eye Disease
Astigmatism, Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Coloboma, Iris coloboma, Peters anomaly OMIM:610023
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Otodental Syndrome
Cataract, Microcornea, Retinal coloboma, Lens coloboma, Iris coloboma ORPHA:2791
Curry-Jones Syndrome
Iris coloboma, Optic disc coloboma ORPHA:1553
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Cataract 21, Multiple Types
Microcornea, Peters anomaly, Cortical pulverulent cataract, Cerulean cataract, Macular hypoplasia... OMIM:610202
Microphthalmia, Isolated 4
Coloboma OMIM:613094
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Microphthalmia/Coloboma 10
Microcoria, Iris coloboma, Optic pit, Chorioretinal coloboma OMIM:616428
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cataract, Abnormal auditory evoked potentials, Attenuation of retinal blood vessels, Retinal dege... OMIM:619260
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Papillorenal Syndrome
Cataract, Macular degeneration, Lens luxation, Optic disc coloboma, Retinal coloboma, Chorioretin... OMIM:120330
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Coloboma OMIM:274270
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Rod-cone dystrophy, Congenital stationary night blindness OMIM:616389
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Coats Disease
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... ORPHA:190
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Congenital Tufting Enteropathy
Cataract, Corneal erosion, Punctate keratitis, Optic disc coloboma ORPHA:92050
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Astigmatism, Retinal d... OMIM:616188
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Retinitis Pigmentosa 26
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:608380
Retinitis Pigmentosa 38
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy OMIM:613862
Leber Congenital Amaurosis 4
Keratoconus, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy, Opti... OMIM:604393
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Iris coloboma, Optic disc coloboma ORPHA:52055
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Corneal erosion, Optic disc coloboma OMIM:270420
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne... ORPHA:1473
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma... ORPHA:411527
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract, Optic nerve dysplasia OMIM:246000
Intellectual Developmental Disorder, Autosomal Recessive 67
Coloboma OMIM:618295
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation, Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degen... OMIM:614292
Micro Syndrome
Optic atrophy, Microcornea, Cataract, Retinal coloboma, Abnormality of retinal pigmentation ORPHA:2510
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Nivelon-Nivelon-Mabille Syndrome
Optic disc coloboma, Hypoplasia of the iris OMIM:600092
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Abnormality of macular pigmentation, Optic disc coloboma, Retinal thinning, Ectopia pupillae, Con... OMIM:608940
Kapur-Toriello Syndrome
Iris coloboma, Retinal coloboma ORPHA:2328
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Microphthalmia, Lenz Type
Cataract, Microcornea, Optic disc coloboma, Chorioretinal coloboma, Iris coloboma ORPHA:568
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Retinitis Pigmentosa 46
Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod... OMIM:612572
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity ORPHA:90654
Warsaw Breakage Syndrome
Optic disc coloboma OMIM:613398
Retinitis Pigmentosa 76
Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... OMIM:617123
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... OMIM:610256
Leber Congenital Amaurosis 2
Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of retinal blood vessels, Fundus atrop... OMIM:204100
Joubert Syndrome 16
Coloboma, Retinal dystrophy OMIM:614465
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Orofaciodigital Syndrome Ix
Retinal coloboma OMIM:258865
Abruzzo-Erickson Syndrome
Coloboma OMIM:302905
2Q24 Microdeletion Syndrome
Cataract, Coloboma, Abnormality iris morphology ORPHA:1617
Facial Clefting, Oblique, 1
Coloboma OMIM:600251
Joubert Syndrome 15
Coloboma, Retinopathy, Retinal dystrophy OMIM:614464
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon... OMIM:180105
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Iris coloboma, Optic disc coloboma OMIM:300472
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Astigmatism, Retinal coloboma OMIM:618571
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Microphthalmia, Syndromic 5
Cataract, Microcornea, Coloboma, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Cone-Rod Dystrophy, X-Linked, 3
Abnormality of macular pigmentation, Astigmatism, Cone/cone-rod dystrophy, Retinal detachment, Op... OMIM:300476
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretin... OMIM:251270
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Kapur-Toriello Syndrome
Cataract, Iris coloboma, Retinal coloboma OMIM:244300
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Iris coloboma, Retinal dystrophy, Retinal coloboma ORPHA:220493
Srd5A3-Cdg
Optic atrophy, Cataract, Optic disc hypoplasia, Coloboma, Rod-cone dystrophy ORPHA:324737
Abruzzo-Erickson Syndrome
Microcornea, Coloboma, Iris coloboma, Chorioretinal coloboma ORPHA:921
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Cataract, Chorioretinal coloboma, Optic nerve hypoplasia ORPHA:163937
Joubert Syndrome 1
Optic disc coloboma, Chorioretinal coloboma, Optic disc pallor, Retinal dysplasia, Retinal dystrophy OMIM:213300
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Acro-Renal-Ocular Syndrome
Cataract, Microcornea, Optic disc hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Agangl... ORPHA:959
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Aplasia/Hypoplasia of the optic nerve, Macular coloboma, Retinal dystrophy ORPHA:423479
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip... OMIM:618195
Retinitis Pigmentosa 25
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone... OMIM:602772
Retinitis Pigmentosa 79
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617460
Retinitis Pigmentosa 56
Pigmentary retinopathy, Posterior subcapsular cataract, Nuclear cataract, Attenuation of retinal ... OMIM:613581
Joubert Syndrome 22
Retinal dysplasia, Coloboma OMIM:615665
Klippel-Feil Syndrome 3, Autosomal Dominant
Iris coloboma, Chorioretinal coloboma OMIM:613702
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Pelvis-Shoulder Dysplasia
Microcornea, Iris coloboma, Retinal coloboma ORPHA:2839
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Baraitser-Winter Cerebrofrontofacial Syndrome
Microcornea, Optic disc coloboma, Heterochromia iridis, Retinoschisis, Iris coloboma ORPHA:2995
Hypomandibular Faciocranial Dysostosis
Optic disc coloboma ORPHA:1790
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculopathy, Macular dyst... OMIM:616170
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic disc pallor, Optic nerve hypoplasia, Retinal coloboma OMIM:300749
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Joubert Syndrome With Hepatic Defect
Optic disc coloboma, Iris coloboma, Chorioretinal coloboma ORPHA:1454
Momo Syndrome
Retinal coloboma OMIM:157980
Optic Atrophy 14
Optic disc pallor OMIM:620550
Joubert Syndrome 2
Optic disc coloboma, Chorioretinal coloboma, Retinal dystrophy OMIM:608091
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Retinal detachment, Optic nerve hypoplasia OMIM:615181
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... OMIM:212550
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Retinitis Pigmentosa 43
Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bon... OMIM:613810
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Ectopia pu... OMIM:106210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Coloboma, Retinal detachment, Corneal opacity OMIM:613153
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Retinitis Pigmentosa 1
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:180100
Joubert Syndrome 40
Optic nerve hypoplasia OMIM:619582
Retinitis Pigmentosa 14
Posterior subcapsular cataract, Retinal arteriolar constriction, Bone spicule pigmentation of the... OMIM:600132
Biemond Syndrome Type 2
Coloboma ORPHA:141333
Congenital Disorder Of Deglycosylation 2
Retinal coloboma OMIM:619775
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
2Q31.1 Microdeletion Syndrome
Coloboma, Iris coloboma, Optic disc coloboma ORPHA:251014
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Coach Syndrome 2
Coloboma, Chorioretinal coloboma OMIM:619111
Leber Congenital Amaurosis
Abnormal optic disc morphology, Keratoconus, Abnormality of retinal pigmentation, Cataract ORPHA:65
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Cataract, Nuclear cataract, Posterior vitreous deta... OMIM:616468
Duane-Radial Ray Syndrome
Cataract, Optic disc hypoplasia, Retinal coloboma, Aganglionic megacolon, Facial palsy, Iris colo... OMIM:607323
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Joubert Syndrome 23
Coloboma OMIM:616490
Steinfeld Syndrome
Iris coloboma, Retinal coloboma OMIM:184705
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Macular coloboma, Astigmatism, Rod-cone dystrophy OMIM:248190
Otodental Dysplasia
Coloboma OMIM:166750
Retinitis Pigmentosa 72
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone... OMIM:616469
Hallermann-Streiff Syndrome
Cataract, Optic disc coloboma, Iris coloboma, Chorioretinal coloboma OMIM:234100
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Aicardi Syndrome
Optic atrophy, Optic disc coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation, ... ORPHA:50
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Cataract, Abnormality iris morphology, Megalocornea, Coloboma, Retinal detachment,... ORPHA:370959
Orofaciodigital Syndrome V
Aganglionic megacolon, Optic disc coloboma OMIM:174300
Retinitis Pigmentosa 60
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Optic disc pallor, Bone spi... OMIM:613983
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:613617
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Cataract, Iris coloboma, Astigmatism, Retinal coloboma OMIM:620654
Retinitis Pigmentosa 12
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:600105
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... OMIM:604116
Proboscis Lateralis
Cataract, Microcornea, Optic disc coloboma, Chorioretinal coloboma, Corneal opacity, Cyclopia, Ir... ORPHA:141099
Congenital Disorder Of Glycosylation, Type Iq
Optic atrophy, Coloboma, Cataract OMIM:612379
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... OMIM:612095
Aicardi Syndrome
Optic atrophy, Cataract, Optic disc coloboma, Retinal detachment, Chorioretinal lacunae OMIM:304050
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy OMIM:615434
Oligomeganephronia
Optic disc coloboma ORPHA:2260
Norrie Disease
Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Buphthalmos... OMIM:310600
Retinitis Pigmentosa 66
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:615233
Retinitis Pigmentosa 49
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613756
Late-Onset Retinal Degeneration
Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Abnormal ante... ORPHA:67042
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia ORPHA:65288
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia ORPHA:250972
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Abnormal optic disc morphology, Coloboma, Facial palsy, Iris coloboma, Optic ne... ORPHA:508498
Craniotelencephalic Dysplasia
Optic nerve hypoplasia OMIM:218670
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Optic disc coloboma, Megalocornea, Corneal opacity, Iris coloboma... ORPHA:536471
Eales Disease
Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularization, Vitritis... ORPHA:40923
Cornelia De Lange Syndrome 1
Optic atrophy, Microcornea, Astigmatism, Optic disc coloboma OMIM:122470
Septooptic Dysplasia
Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Coloboma, Retinal degeneration OMIM:615249
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Coloboma, Morning glory anomaly ORPHA:91412
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia OMIM:613638
Joubert Syndrome 5
Rod-cone dystrophy, Retinal coloboma OMIM:610188
Developmental Delay With Or Without Dysmorphic Facies And Autism
Optic disc coloboma OMIM:618454
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Cataract, Peripheral axonal neuropathy, Corneal opacity, Optic nerve hypoplasia ORPHA:496790
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, ... ORPHA:263479
Juvenile Glaucoma
Abnormality iris morphology, Abnormal optic nerve morphology, Retinal vein occlusion, Retinal art... ORPHA:98977
Hyperlysinemia, Type I
Ectopia lentis, Optic nerve hypoplasia OMIM:238700
Thauvin-Robinet-Faivre Syndrome
Coloboma, Retinal coloboma OMIM:617107
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Ectopia pupillae, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy,... ORPHA:85167
Intellectual Developmental Disorder, Autosomal Dominant 70
Cataract, Retinal detachment, Retinal telangiectasia, Optic nerve hypoplasia OMIM:620157
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Iris transillumination defect, Cataract, Microcornea, Coloboma OMIM:617306
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Retinal coloboma OMIM:616546
Cognitive Impairment With Or Without Cerebellar Ataxia
Optic nerve hypoplasia OMIM:614306
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia ORPHA:1528
Chromosome 16Q12 Duplication Syndrome
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... OMIM:619649
Frontonasal Dysplasia 1
Cataract, Coloboma OMIM:136760
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia OMIM:618890
Chime Syndrome
Corneal opacity, Retinal coloboma ORPHA:3474
Neurooculocardiogenitourinary Syndrome
Coloboma, Peters anomaly OMIM:618652
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Cataract, Astigmatism, Retinal coloboma ORPHA:500095
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity ORPHA:440727
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Bresek Syndrome
Aganglionic megacolon, Iris coloboma, Optic nerve hypoplasia ORPHA:85284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Cataract, Peters anomaly, Megalocornea, Retinal atrophy, Coloboma, Retinal detachm... OMIM:236670
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract, Lenticonus, Retinal dystrophy OMIM:613763
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Peripheral demyelinat... ORPHA:79282
Verheij Syndrome
Coloboma, Optic nerve hypoplasia OMIM:615583
Oculogastrointestinal Neurodevelopmental Syndrome
Coloboma OMIM:619318
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Facial palsy, Iris coloboma, Optic disc coloboma OMIM:620186
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Distal 22Q11.2 Microduplication Syndrome
Optic disc coloboma ORPHA:261337
Baraitser-Winter Syndrome 2
Coloboma OMIM:614583
Pontocerebellar Hypoplasia, Type 11
Coloboma OMIM:617695
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia ORPHA:228384
Orofaciodigital Syndrome Xiv
Retinitis, Optic disc coloboma, Retinal coloboma OMIM:615948
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia ORPHA:137634
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Optic nerve hypoplasia OMIM:620502
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:401777
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Chorioretinal coloboma, Retinal coloboma OMIM:280000
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Coloboma OMIM:167730
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Astigmatism, Optic disc coloboma OMIM:617157
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Coloboma OMIM:601357
Long-Olsen-Distelmaier Syndrome
Cataract, Microspherophakia, Optic nerve hypoplasia OMIM:620609
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Coloboma, Astigmatism OMIM:618659
Cerebral Visual Impairment
Optic atrophy, Retinopathy of prematurity, Optic disc pallor, Increased cup-to-disc ratio, Optic ... ORPHA:447788
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Retinal vascular tortuosity, Sclerocornea, Iris coloboma, ... OMIM:243605
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dy... OMIM:614643
Optic Atrophy 11
Optic atrophy, Cherry red spot of the macula, Facial diplegia, Decreased sensory nerve conduction... OMIM:617302
Joubert Syndrome 14
Optic atrophy, Coloboma, Morning glory anomaly OMIM:614424
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia OMIM:618736
Familial Multiple Lipomatosis
Coloboma, Chorioretinitis ORPHA:199276
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Ectopia pupillae, Coloboma, Sclerocornea OMIM:615877
Phace Association
Optic atrophy, Horner syndrome, Increased retinal vascularity, Developmental cataract, Optic nerv... OMIM:606519
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Coloboma, Corneal opacity ORPHA:2399
Chromosome 1P36 Deletion Syndrome, Distal
Optic disc pallor, Optic atrophy, Optic disc coloboma, Cataract OMIM:607872
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Coloboma ORPHA:464288
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Coloboma OMIM:616789
Branchio-Oculo-Facial Syndrome
Cataract, Microcornea, Coloboma, Iris coloboma ORPHA:1297
Coach Syndrome 1
Optic disc pallor, Coloboma OMIM:216360
Cardiofaciocutaneous Syndrome 4
Cataract, Optic nerve hypoplasia OMIM:615280
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Astigmatism, Hyperopic astigmatism, Optic nerve hypoplasia ORPHA:363686
Rabin-Pappas Syndrome
Cataract, Retinal detachment, Retinal telangiectasia, Optic nerve hypoplasia OMIM:620155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Cataract, Megalocornea, Hypoplasia of the retina, Retinal degeneration, Retinal at... OMIM:253280
8Q24.3 Microdeletion Syndrome
Retinal coloboma, Optic nerve hypoplasia ORPHA:508488
Rhizomelic Chondrodysplasia Punctata, Type 2
Cataract, Zonular cataract, Optic nerve hypoplasia OMIM:222765
Trichothiodystrophy 5, Nonphotosensitive
Retinal dystrophy, Optic nerve hypoplasia OMIM:300953
Lissencephaly Due To Tuba1A Mutation
Aganglionic megacolon, Optic nerve hypoplasia ORPHA:171680
Orofaciodigital Syndrome Type 14
Retinal coloboma ORPHA:434179
Solitary Median Maxillary Central Incisor
Cyclopia, Coloboma OMIM:147250
Stevenson-Carey Syndrome
Coloboma OMIM:611961
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Coloboma ORPHA:329224
Nabais Sa-De Vries Syndrome, Type 1
Optic nerve hypoplasia OMIM:618828
Microphthalmia, Syndromic 3
Cataract, Optic nerve aplasia, Coloboma, Sclerocornea, Optic nerve hypoplasia OMIM:206900
Microtia-Anotia
Holoprosencephaly OMIM:600674
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Optic nerve hypoplasia ORPHA:572013
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia OMIM:614833
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Optic nerve hypoplasia OMIM:618381
Ritscher-Schinzel Syndrome 1
Coloboma OMIM:220210
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia OMIM:607597
15Q24 Microdeletion Syndrome
Coloboma ORPHA:94065
Charge Syndrome
Cataract, Retinal coloboma, Coloboma, Facial palsy, Iris coloboma OMIM:214800
Cree Impaired Intellectual Development Syndrome
Coloboma OMIM:606851
Spastic Paraplegia 54, Autosomal Recessive
Optic nerve hypoplasia OMIM:615033
Peters-Plus Syndrome
Cataract, Iris coloboma, Peters anomaly, Retinal coloboma OMIM:261540
Schimmelpenning-Feuerstein-Mims Syndrome
Coloboma, Corneal opacity OMIM:163200
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microcornea, Iris coloboma, Cataract, Septo-optic dysplasia ORPHA:3301
Branchiooculofacial Syndrome
Cataract, Facial palsy, Iris coloboma, Retinal coloboma OMIM:113620
Microphthalmia, Syndromic 1
Microcornea, Optic disc coloboma, Chorioretinal coloboma, Ciliary body coloboma, Aganglionic mega... OMIM:309800
Phace Syndrome
Retinal vascular malformation, Cataract, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris ... ORPHA:42775
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly ORPHA:2211
Tatton-Brown-Rahman Syndrome
Optic nerve hypoplasia OMIM:615879
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Sympathetic Ophthalmia
Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Cor... ORPHA:79098
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Fanconi Anemia, Complementation Group I
Astigmatism, Optic nerve hypoplasia OMIM:609053
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Corneal opacity, Optic nerve hypoplasia OMIM:301056
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Optic atrophy, Cataract, Microcornea, Retinal coloboma, Ectopia pupillae, Abnormal pupil morpholo... ORPHA:261552
Squalene Synthase Deficiency
Optic nerve hypoplasia OMIM:618156
White-Sutton Syndrome
Iris coloboma, Astigmatism, Rod-cone dystrophy, Optic nerve hypoplasia OMIM:616364
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Optic nerve hypoplasia ORPHA:3157
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia OMIM:617914
Congenital Fibrosis Of Extraocular Muscles
Cataract, Anisocoria, Abnormal pupil shape, Optic nerve hypoplasia ORPHA:45358
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Optic nerve hypoplasia OMIM:617864
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cataract, Retinal coloboma, Axenfeld anomaly, Astigmatism, Aganglionic megacolon, Iris coloboma ORPHA:261537
Mowat-Wilson Syndrome
Cataract, Retinal coloboma, Axenfeld anomaly, Astigmatism, Aganglionic megacolon, Iris coloboma ORPHA:2152
Phakomatosis Pigmentokeratotica
Pheochromocytoma, Coloboma ORPHA:2874
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
D-Glyceric Aciduria
Optic nerve hypoplasia OMIM:220120
19P13.13 Microdeletion Syndrome
Optic atrophy, Optic nerve hypoplasia ORPHA:357001
Charcot-Marie-Tooth Disease Type 1F
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... ORPHA:101085
16Q24.3 Microdeletion Syndrome
Astigmatism, Optic nerve hypoplasia ORPHA:261250
Chromosome 2P16.1-P15 Deletion Syndrome
Optic nerve hypoplasia OMIM:612513
Brachytelephalangic Chondrodysplasia Punctata
Cataract, Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:79345
2P15P16.1 Microdeletion Syndrome
Optic atrophy, Facial palsy, Optic nerve hypoplasia ORPHA:261349
Bohring-Opitz Syndrome
Optic atrophy, Retinal atrophy, Coloboma ORPHA:97297
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Coloboma ORPHA:251028
Craniosynostosis 4
Optic nerve hypoplasia OMIM:600775
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Coloboma, Peters anomaly OMIM:616975
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal autonomic nervous system physiology, Optic nerve hypoplasia ORPHA:300570
Fg Syndrome Type 1
Optic nerve hypoplasia ORPHA:93932
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Coloboma, Abnormal autonomic nervous system physiology ORPHA:453499
Holoprosencephaly 13, X-Linked
Cyclopia, Septo-optic dysplasia, Optic nerve hypoplasia OMIM:301043
Cerebrooculonasal Syndrome
Iris coloboma, Optic nerve hypoplasia OMIM:605627
Bosma Arhinia Microphthalmia Syndrome
Cataract, Coloboma OMIM:603457
Acrocallosal Syndrome
Optic atrophy, Coloboma, Hypopigmentation of the fundus OMIM:200990
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Coloboma, Abnormal optic nerve morphology, Optic nerve hypoplasia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Coloboma, Abnormal optic nerve morphology, Optic nerve hypoplasia ORPHA:352665
Diarrhea 10, Protein-Losing Enteropathy Type
Coloboma OMIM:618183
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Optic nerve hypoplasia OMIM:620029
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Cataract, Neurofibroma, Chorioretinal coloboma, Peripheral demyelination, Juvenile cataract, Colo... OMIM:619475
Asparagine Synthetase Deficiency
Optic nerve hypoplasia OMIM:615574
Hydranencephaly
Chorioretinal atrophy, Optic nerve hypoplasia ORPHA:2177
Proximal Renal Tubular Acidosis
Cataract, Band keratopathy, Coloboma ORPHA:47159
Charge Syndrome
Optic atrophy, Chorioretinal coloboma, Abnormal cranial nerve morphology, Coloboma, Facial palsy,... ORPHA:138
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Optic nerve hypoplasia ORPHA:221139
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia OMIM:619321
Kabuki Syndrome
Microcornea, Coloboma ORPHA:2322
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Attenuation of retinal blood vessels, Optic nerve hypoplasia ORPHA:468631
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Keratoconjunctivitis sicca, Corneal opacity, Buphthalmos, Corneal dystrophy, Optic nerve hypoplasia ORPHA:495875
Pancreatic And Cerebellar Agenesis
Optic nerve hypoplasia OMIM:609069
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Optic nerve hypoplasia OMIM:617506
Esophageal Atresia
Coloboma ORPHA:1199
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Cataract, Coloboma, Retinopathy ORPHA:353281
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Renpenning Syndrome 1
Cataract, Coloboma OMIM:309500
Marshall-Smith Syndrome
Optic nerve hypoplasia OMIM:602535
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia ORPHA:457284
Microphthalmia, Syndromic 6
Sclerocornea, Microcornea, Coloboma, Retinal dystrophy OMIM:607932
Rubinstein-Taybi Syndrome 1
Cataract, Coloboma OMIM:180849
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Optic nerve hypoplasia ORPHA:226307
Diaphragmatic Hernia 4, With Cardiovascular Defects
Optic nerve hypoplasia OMIM:620025
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Cataract, Corneal scarring, Coloboma ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Cataract, Corneal scarring, Coloboma ORPHA:353277
Baller-Gerold Syndrome
Optic atrophy, Astigmatism, Optic nerve hypoplasia OMIM:218600
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia ORPHA:95494
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Optic nerve hypoplasia OMIM:620455
Roberts-Sc Phocomelia Syndrome
Cataract, Coloboma, Opacification of the corneal stroma, Corneal opacity OMIM:268300
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Optic nerve hypoplasia ORPHA:500150
Holoprosencephaly 9
Optic nerve hypoplasia OMIM:610829
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Optic nerve hypoplasia OMIM:620330
Biliary, Renal, Neurologic, And Skeletal Syndrome
Coloboma OMIM:619534

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 Rybp

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 Rybp.

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

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MGI Allele Allele Type Produced
Rybpem1(IMPC)Bay Exon Deletion Mice
Rybptm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Rybptm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Rybptm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rybptm436964(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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