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

Order Mouse and ES Cells

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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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