Setting-Sun Phenomenon, Familial Benign |
|
Upper eyelid retraction |
OMIM:600598 |
22q11 duplication syndrome |
|
Telecanthus |
DECIPHER:32 |
Central Retinal Vein Occlusion |
|
Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg... |
ORPHA:411527 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Falciform retinal fold, Retinal ... |
OMIM:305390 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal dystrophy, Corneal opacity, Band keratopathy |
OMIM:300779 |
Oculomotor-Levator Synkinesis |
|
Ptosis, Abnormal eyelid morphology, Eyelid retraction |
OMIM:151610 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Retinal exudate,... |
OMIM:133780 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
Macular Degeneration, Age-Related, 13 |
|
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen |
OMIM:615439 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... |
OMIM:609129 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Optic atrophy, Epicanthus, Iris cyst, Ptosis, Hypoplasia of the fovea, Upslanted palpebral fissure |
OMIM:620086 |
Vitreoretinochoroidopathy |
|
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Pulverulent c... |
OMIM:193220 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Galactosialidosis |
|
Corneal opacity, Cherry red spot of the macula |
ORPHA:351 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
Macular Dystrophy, Patterned, 3 |
|
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
Stickler Syndrome Type 2 |
|
Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology |
ORPHA:90654 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Retinal dystrophy, Drusen |
OMIM:267800 |
Blue Cone Monochromatism |
|
Corneal dystrophy, Abnormality of retinal pigmentation |
ORPHA:16 |
Cardiomyopathy, Dilated, 1M |
|
Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f... |
OMIM:607482 |
Eales Disease |
|
Ischemic stroke, Iris neovascularization, Vitreous hemorrhage, Macular edema, Vitreous haze, Vitr... |
ORPHA:40923 |
Cone-Rod Dystrophy 7 |
|
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:603649 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... |
OMIM:610202 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
Leber Congenital Amaurosis 19 |
|
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:618513 |
Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Granular macular appearance, Perifoveal ring of hyperautofluo... |
OMIM:608051 |
Late-Onset Retinal Degeneration |
|
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... |
OMIM:605670 |
Retinitis Pigmentosa 4 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:613731 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... |
OMIM:143200 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... |
OMIM:193235 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Optic atrophy, Ptosis, Cataract, Iris coloboma, Corneal opacity, Chorioret... |
ORPHA:1473 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Peripheral retinal atrophy, Drusen, Macular dystrophy, Abnormality of macular pigmentation |
OMIM:136550 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
Retinitis Pigmentosa 40 |
|
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... |
OMIM:613801 |
Cardiomyopathy, Dilated, 2A |
|
Myofiber disarray, Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular e... |
OMIM:611880 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... |
ORPHA:59181 |
X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1852 |
Stargardt Disease 3 |
|
Macular flecks, Macular atrophy, Macular dystrophy |
OMIM:600110 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration, Increased neuronal autofluorescent lipopigment |
OMIM:601780 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... |
OMIM:616108 |
Oliver-Mcfarlane Syndrome |
|
Central heterochromia, Retinal degeneration, Long eyebrows, Long eyelashes, Pigmentary retinopathy |
OMIM:275400 |
Liberfarb Syndrome |
|
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... |
OMIM:618889 |
Cataract-Microcornea Syndrome |
|
Microcornea, Iris coloboma, Cataract, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Retinitis Pigmentosa 31 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Retinal Dystrophy And Obesity |
|
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... |
OMIM:616188 |
Leber Congenital Amaurosis 13 |
|
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... |
OMIM:612712 |
Stargardt Disease 4 |
|
Retinal flecks, Macular degeneration |
OMIM:603786 |
Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid |
OMIM:153700 |
Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... |
OMIM:180550 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Cardiomyopathy, Dilated, 1Ff |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:613286 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent... |
OMIM:613255 |
Cardiomyopathy, Dilated, 1L |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... |
OMIM:606685 |
Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea, Macular dyst... |
OMIM:217800 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Retinal degeneration, Shallow anterior chamber, Macular atrophy, Cystoid macular degeneration |
OMIM:267760 |
Retinitis Pigmentosa 84 |
|
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:618220 |
Cardiomyopathy, Dilated, 1Ee |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613252 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Patent ductus arteriosus, Retinal dystrophy, Microcornea, Iris coloboma, Peripheral retinal atrop... |
OMIM:615147 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
Retinitis Pigmentosa 9 |
|
Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cata... |
OMIM:180104 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... |
OMIM:180210 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:614500 |
Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Rod-cone dystrophy, Optic atrophy, Concentric hypertrophic cardiomyopathy, Retinal degeneration, ... |
OMIM:204200 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Marcus Gunn Phenomenon |
|
Unilateral ptosis, Congenital ptosis |
OMIM:154600 |
Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Macular drusen |
OMIM:608850 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Attenuation of retinal b... |
OMIM:619531 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... |
OMIM:613172 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Central Areolar Choroidal Dystrophy |
|
Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin... |
ORPHA:75377 |
Retinitis Pigmentosa 32 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:609913 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Retinal Cone Dystrophy 1 |
|
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:180020 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lattice retinal degeneration, Peripheral vitreoretinal degeneration, Vitreous floaters, Lens subl... |
OMIM:614292 |
Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
Ptosis, Hereditary Congenital 1 |
|
Congenital ptosis |
OMIM:178300 |
Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Rod-cone dystrophy |
OMIM:268010 |
Choroideremia |
|
Choroideremia, Granular macular appearance, Retinal pigment epithelial mottling, Bone spicule pig... |
OMIM:303100 |
Bothnia Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... |
ORPHA:85128 |
Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia |
ORPHA:1243 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal fold, Abnormality of skin pigmentation, Retinal dystrophy, Abnormality of retinal pigment... |
OMIM:251270 |
Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Retinal degeneration, Ptosis |
OMIM:311000 |
Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart failure, Red... |
OMIM:604765 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Increased neuronal autofluorescent lipopigment, Retinal degeneration, Increased extraneuronal aut... |
OMIM:204500 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Astigmatism, Pigmentary retinopathy |
OMIM:268060 |
Cardiomyopathy, Dilated, 1J |
|
Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi... |
OMIM:605362 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:613881 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e... |
ORPHA:41751 |
Microphthalmia, Isolated 5 |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... |
OMIM:611040 |
Retinitis Pigmentosa 39 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:613809 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Ectopia lentis, Ptosis, Iris coloboma, Palpebral edema |
ORPHA:1259 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... |
OMIM:204100 |
Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy |
OMIM:609909 |
Bardet-Biedl Syndrome 13 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:615990 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Coloboma, Microcornea, Orbital cyst |
OMIM:251505 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Epiretinal membrane, Conjunctival hyperemia |
OMIM:148200 |
Morm Syndrome |
|
Retinal dystrophy, Cataract, Retinal atrophy |
ORPHA:75858 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... |
ORPHA:293964 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Corneal opacity, Ectopia lentis |
OMIM:613086 |
Retinitis Pigmentosa 33 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:610359 |
Coats Disease |
|
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment, Abnorm... |
ORPHA:190 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels... |
OMIM:604393 |
Retinitis Pigmentosa 70 |
|
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... |
OMIM:615922 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal dystrophy, Palpebral edema, Corneal opacity, Opacification of the cornea... |
OMIM:608470 |
Familial Drusen |
|
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... |
ORPHA:75376 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:217622 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Congestive heart fail... |
OMIM:601493 |
Retinitis Pigmentosa 77 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:617304 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Retinal degeneration, Optic atrophy |
OMIM:614322 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy |
OMIM:617879 |
Cardiomyopathy, Dilated, 1U |
|
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Conge... |
OMIM:613694 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... |
OMIM:607921 |
Leber Congenital Amaurosis 8 |
|
Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Macular coloboma, Pigment... |
OMIM:613835 |
Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration, Corneal opacity, Cerebellar atrophy, Opacification of the co... |
OMIM:252650 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor |
OMIM:609021 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia |
OMIM:192600 |
Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy |
OMIM:611879 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Retinitis Pigmentosa 86 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:618613 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Posterior vitreous detachment, Cataract, Chorioretinal atrophy, Reti... |
OMIM:616468 |
Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Congenital Primary Aphakia |
|
Retinal dysplasia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Co... |
ORPHA:83461 |
Cone-Rod Dystrophy 11 |
|
Macular degeneration, Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:610381 |
Neovascular Glaucoma |
|
Iris neovascularization, Retinal vascular proliferation, Corneal stromal edema, Abnormal posterio... |
ORPHA:94058 |
Scheie Syndrome |
|
Aortic regurgitation, Retinal degeneration, Corneal opacity, Aortic valve stenosis |
OMIM:607016 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... |
OMIM:613642 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi... |
OMIM:193230 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre... |
OMIM:615396 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Macular atrophy, Coloboma, Microcornea |
OMIM:602499 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... |
OMIM:600884 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
Birdshot Chorioretinopathy |
|
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve... |
OMIM:615373 |
Retinitis Pigmentosa 81 |
|
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... |
OMIM:617871 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Splenomegaly, Unconjugated hyperbilirubinemia, Elevated tran... |
ORPHA:766 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Bornholm Eye Disease |
|
Astigmatism, Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Exudative Vitreoretinopathy 5 |
|
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exuda... |
OMIM:613310 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:612877 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Optic nerve hypoplasia,... |
ORPHA:137902 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... |
OMIM:601369 |
Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:615725 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Cone-Rod Dystrophy 5 |
|
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy |
OMIM:600977 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Usher Syndrome, Type Iv |
|
Retinal atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluoresc... |
OMIM:618144 |
Leber Congenital Amaurosis 9 |
|
Optic atrophy, Optic disc pallor, Retinal dots, Retinal pigment epithelial mottling, Macular atro... |
OMIM:608553 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Downslanted palpebral fissures, Epicanthus, Synophrys, Abnormality of retinal pigmentation, Ptosi... |
ORPHA:1390 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Retinitis Pigmentosa 57 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613582 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:1178 |
Left Ventricular Noncompaction 1 |
|
Patent ductus arteriosus, Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia... |
OMIM:604169 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Ptosis, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Endocardial Fibroelastosis |
|
Telecanthus, Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis |
ORPHA:2022 |
Leber Congenital Amaurosis 1 |
|
Optic disc drusen, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... |
OMIM:204000 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:180105 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Retinal degeneration, Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
Opticocochleodentate Degeneration |
|
Cochlear degeneration, Hearing impairment, Optic atrophy |
OMIM:258700 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... |
OMIM:603075 |
Sjogren-Larsson Syndrome |
|
Opacification of the corneal epithelium, Retinal pigment epithelial atrophy, Retinal thinning, Ma... |
OMIM:270200 |
Progressive Bifocal Chorioretinal Atrophy |
|
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy |
ORPHA:75373 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, Microcornea, White forelock, Iri... |
OMIM:601706 |
Retinitis Pigmentosa 11 |
|
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... |
OMIM:600138 |
Leber Congenital Amaurosis |
|
Cataract, Keratoconus, Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
Retinitis Pigmentosa 46 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d... |
OMIM:612572 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Optic atrophy, Developmental cataract |
ORPHA:2572 |
Retinitis Pigmentosa 90 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:619007 |
Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure, Increased left ve... |
OMIM:615248 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Optic atrophy, Cerebral atrophy, Cerebellar atrophy, Neurodegeneration, Pigmentary r... |
OMIM:610951 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy, Cardiomyopathy |
OMIM:609016 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc... |
OMIM:618052 |
Norrie Disease |
|
Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior ch... |
OMIM:310600 |
Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Congestive hea... |
OMIM:613697 |
Senior-Loken Syndrome |
|
Retinal dystrophy, Cataract, Hypertension, Abnormality of retinal pigmentation |
ORPHA:3156 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract |
OMIM:616722 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Downslanted palpebral fissures, Retinal fold, Upslanted palpebral fissure, Optic atrophy, Epicant... |
OMIM:152950 |
Tietz Albinism-Deafness Syndrome |
|
Generalized hypopigmentation, White eyelashes, White eyebrow, Hypopigmentation of the fundus, Het... |
OMIM:103500 |
Diabetes And Deafness, Maternally Inherited |
|
Retinal degeneration, Pigmentary retinopathy, Ptosis, Cardiomyopathy |
OMIM:520000 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Iris hypopigmentation, Retinal nonattachment, Vitelliform-like macular lesions, Choroideremia |
ORPHA:99000 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Ocular anterior segment dysgenesis, Narrow palpebral fissure, Microcornea, Ptosis, Iris coloboma,... |
OMIM:615145 |
Atopic Keratoconjunctivitis |
|
Abnormal eyelid morphology, Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opaci... |
ORPHA:163934 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
Microphthalmia, Syndromic 16 |
|
Ankyloblepharon, Sclerocornea |
OMIM:611038 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
Retinitis Pigmentosa 56 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613581 |
Retinitis Pigmentosa 54 |
|
Fundus atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:613428 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... |
ORPHA:827 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinopathy, Corticospinal tract atrophy, Retinal pigment epithelial mottling, Rod-cone dystrophy |
OMIM:551500 |
Retinitis Pigmentosa 2 |
|
Rod-cone dystrophy, Cataract, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy,... |
OMIM:312600 |
Retinitis Pigmentosa 62 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:614181 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... |
ORPHA:45453 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... |
OMIM:618195 |
Bothnia Retinal Dystrophy |
|
Retinal dystrophy, Macular degeneration |
OMIM:607475 |
Macular Dystrophy, Vitelliform, 3 |
|
Choroidal neovascularization, Macular atrophy, Vitelliform-like macular lesions, Drusen, Macular ... |
OMIM:608161 |
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Upslanted palpebral fissure, Broad eyebrow, Macular degeneration |
OMIM:612948 |
Thiel-Behnke Corneal Dystrophy |
|
Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor... |
ORPHA:98960 |
Retinitis Pigmentosa 73 |
|
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... |
OMIM:616544 |
Cone-Rod Dystrophy 13 |
|
Macular degeneration, Cone/cone-rod dystrophy |
OMIM:608194 |
Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... |
OMIM:614672 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Optic atrophy, Retinal degeneration, Macular degeneration, Increased neuronal autofluorescent lip... |
OMIM:256730 |
Macular Degeneration, Age-Related, 3 |
|
Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization, Drusen |
OMIM:608895 |
Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Myxomatous mitral valve ... |
OMIM:614980 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Retinal Cone Dystrophy 3B |
|
Astigmatism, Macular atrophy, Cone/cone-rod dystrophy |
OMIM:610356 |
Retinitis Pigmentosa 61 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:614180 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... |
ORPHA:75566 |
Retinitis Pigmentosa 83 |
|
Rod-cone dystrophy, Asteroid hyalosis, Vitreous floaters, Bone spicule pigmentation of the retina... |
OMIM:618173 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
Retinitis Pigmentosa 88 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:618826 |
Retinitis Pigmentosa 80 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:617781 |
Retinitis Pigmentosa 19 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:601718 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Pigmentary retinopathy, Abnormality of retinal pigmentation |
OMIM:179840 |
Bardet-Biedl Syndrome 9 |
|
Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:615986 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... |
ORPHA:364055 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Optic pit, Chorioretinal coloboma |
OMIM:616428 |
Retinitis Pigmentosa 95 |
|
Perifoveal ring of hyperautofluorescence, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:620102 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy |
OMIM:121820 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Lens subluxation, Cataract, Retinal detachment, Microphakia |
ORPHA:171844 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... |
ORPHA:98964 |
Sjögren-Larsson Syndrome |
|
Retinopathy, Corneal erosion, Macular degeneration, Generalized hyperpigmentation, Abnormality of... |
ORPHA:816 |
Glaucoma 3, Primary Congenital, E |
|
Megalocornea, Corneal stromal edema, Increased cup-to-disc ratio |
OMIM:617272 |
Retinitis Pigmentosa 23 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pos... |
OMIM:300424 |
Retinitis Pigmentosa 38 |
|
Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy, Optic disc pallor |
OMIM:613862 |
Achromatopsia |
|
Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal pigment epithelial mottl... |
ORPHA:49382 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Autosomal Dominant Keratitis |
|
Coloboma, Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Co... |
ORPHA:2334 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Retinal degeneration, Marginal corneal dystrophy, Corneal crystals, Chorioretinal atrophy |
OMIM:210370 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal opacity, Corneal guttata, Corneal stromal edema |
OMIM:613267 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... |
OMIM:617222 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar vermis atrophy, Retinal pigment epithelial mottling, Cerebellar atrophy, Optic disc pa... |
OMIM:619389 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Optic atrophy, Macular atrophy, Microcornea, Cataract, Cerebral atrophy, Cerebellar ... |
OMIM:616171 |
Microspherophakia With Hernia |
|
Retinal detachment, Microspherophakia, Superior lens subluxation |
OMIM:157150 |
Late-Onset Retinal Degeneration |
|
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Peripa... |
ORPHA:67042 |
Retinitis Pigmentosa 27 |
|
Rod-cone dystrophy, Macular edema, Macular atrophy, Peripapillary chorioretinal atrophy, Choriore... |
OMIM:613750 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Corneal scarring, Retinal dystrophy, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Chori... |
OMIM:212550 |
Bardet-Biedl Syndrome 16 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615993 |
Anterior Segment Dysgenesis 8 |
|
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... |
OMIM:617319 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Refsum Disease, Classic |
|
Rod-cone dystrophy, Retinal degeneration, Congestive heart failure, Ptosis, Cataract, Arrhythmia,... |
OMIM:266500 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... |
OMIM:608569 |
Retinitis Pigmentosa 25 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:602772 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... |
OMIM:225200 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Type II diabetes mellitus, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corp... |
OMIM:616860 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... |
ORPHA:1345 |
Tricho-Retino-Dento-Digital Syndrome |
|
Juvenile cataract, Abnormality of retinal pigmentation |
ORPHA:1264 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
Foveal Hypoplasia 2 |
|
Posterior embryotoxon, Foveal hyperpigmentation, Optic nerve misrouting, Axenfeld anomaly, Astigm... |
OMIM:609218 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia |
ORPHA:871 |
Nephronophthisis 15 |
|
Retinal degeneration |
OMIM:614845 |
Retinitis Pigmentosa 43 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613810 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Retinal pigment epithelial atrophy, Anemia, Retinal atrophy, Elliptocytosis, Decreased serum iron... |
OMIM:616959 |
Retinitis Pigmentosa 60 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613983 |
Retinitis Pigmentosa 76 |
|
Peripapillary atrophy, Retinal thinning, Hyperautofluorescent macular lesion, Bone spicule pigmen... |
OMIM:617123 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Hypoautofluorescent macu... |
OMIM:304020 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:604229 |
Dilution, Pigmentary |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypopigmentation o... |
OMIM:126070 |
Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Mitral valve prolapse, Short chordae tendineae of the tricuspid valve, Sho... |
OMIM:314400 |
Cofs Syndrome |
|
Cataract, Cerebral cortical atrophy, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1466 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Retinal degeneration, Cerebral cortical atrophy, Increased neuronal autofluor... |
OMIM:256731 |
Bardet-Biedl Syndrome 4 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615982 |
Spondylometaphyseal Dysplasia, Axial |
|
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:602271 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Brain atrophy, Retinal degeneration, Abnormal auditory evoked potentials, Synophrys, Macular atro... |
OMIM:619260 |
Cone Dystrophy 3 |
|
Macular atrophy, Cone/cone-rod dystrophy |
OMIM:602093 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Lattice retinal degeneration, Rhegmatogenous retinal detachment |
OMIM:619248 |
Albinism, Oculocutaneous, Type Iv |
|
Macular hypoplasia, Albinism, Hypopigmentation of the fundus, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Oculocutaneous Albinism Type 6 |
|
Aplasia/Hypoplasia of the macula, Abnormal iris pigmentation, Abnormal foveal morphology on macul... |
ORPHA:370097 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Astigmatism, Abnormality of macular pigmentation, Retinal detachment, Op... |
OMIM:300476 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Tractional retinal detachment, Abnormal macular morphology, Retinal arteriol... |
ORPHA:90050 |
Woolly Hair |
|
Abnormal pupil morphology, Abnormal retinal morphology, Sparse lateral eyebrow, Hypopigmentation ... |
ORPHA:170 |
Cone-Rod Dystrophy 15 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613660 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic anemia, Poikilo... |
OMIM:206200 |
Butyrylcholinesterase Deficiency |
|
Myocardial infarction, Congestive heart failure |
ORPHA:132 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Ptosis, Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
Retinitis Pigmentosa |
|
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Keratoconus, Abnormal retinal vascu... |
ORPHA:791 |
Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
Microphthalmia, Syndromic 13 |
|
Ptosis, Iris coloboma, Chorioretinal coloboma, Microcornea |
OMIM:300915 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buph... |
OMIM:221900 |
Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Optic nerve misro... |
ORPHA:79435 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Cardiomyopathy, Congestive heart failure, Arrhythmia |
OMIM:616198 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... |
ORPHA:506353 |
Ring Chromosome 14 Syndrome |
|
Downslanted palpebral fissures, Epicanthus, Blepharophimosis, Almond-shaped palpebral fissure, Pi... |
OMIM:616606 |
Ramon Syndrome |
|
Abnormal anterior chamber morphology, Abnormality of retinal pigmentation, Telangiectasia of the ... |
ORPHA:3019 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy |
OMIM:619090 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ocular anterior segment dysgenesis, Retinal dysplasia, Coloboma, Developmental cataract |
ORPHA:324416 |
Retinitis Pigmentosa 14 |
|
Retinal arteriolar constriction, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Pos... |
OMIM:600132 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Retinal pigment epithelial mottling, Lenticonus, Macular atrophy, Yellow/white l... |
ORPHA:52427 |
Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Ca... |
ORPHA:290 |
Retinitis Pigmentosa 6 |
|
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:312612 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Blepharospasm, ... |
ORPHA:171673 |
Retinitis Pigmentosa 17 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:600852 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:617460 |
Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
Achromatopsia 7 |
|
Hypoplasia of the fovea, Macular atrophy, Absent foveal reflex |
OMIM:616517 |
Cornea Plana 2, Autosomal Recessive |
|
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea |
OMIM:217300 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Rod-cone dystrophy, Microcornea |
OMIM:619082 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Chorioretinal Atrophy, Progressive Bifocal |
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Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
Pontocerebellar Hypoplasia Type 10 |
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Optic atrophy, Long eyelashes, Long palpebral fissure, Proptosis, Highly arched eyebrow |
ORPHA:411493 |
Retinitis Pigmentosa 75 |
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Mixed astigmatism, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of re... |
OMIM:617023 |
Exudative Vitreoretinopathy 3 |
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Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
Bardet-Biedl Syndrome 2 |
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Retinal degeneration, Rod-cone dystrophy, Dilated cardiomyopathy |
OMIM:615981 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... |
OMIM:615631 |
Non-Syndromic Bicoronal Craniosynostosis |
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Hypertelorism, Hearing impairment, Proptosis |
ORPHA:35099 |
Frias Syndrome |
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Downslanted palpebral fissures, Ptosis, Hypertelorism, Proptosis, Cupped ear, Posteriorly rotated... |
OMIM:609640 |
Nephronophthisis 14 |
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Retinal degeneration |
OMIM:614844 |
Alpha-Methylacyl-Coa Racemase Deficiency |
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Cataract, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:614307 |
Retinitis Pigmentosa 69 |
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Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:615780 |
Spinocerebellar Degeneration And Corneal Dystrophy |
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Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Cardiomyopathy, Dilated, 2F |
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Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:619747 |
Stickler Syndrome, Type V |
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Retinal detachment, Cataract, Vitreoretinopathy |
OMIM:614284 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
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Corneal opacity, Microcornea |
ORPHA:2432 |
Mucous Membrane Pemphigoid |
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Corneal opacity |
ORPHA:46486 |
Congenital Myopathy 5 With Cardiomyopathy |
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Sudden cardiac death, Severely reduced left ventricular ejection fraction, Congestive heart failu... |
OMIM:611705 |
Neonatal Adrenoleukodystrophy |
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Ptosis, Cataract, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:44 |
Osteoporosis-Pseudoglioma Syndrome |
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Exudative vitreoretinopathy, Exudative retinopathy, Corneal opacity, Retinal detachment, Abnormal... |
ORPHA:2788 |
Microphthalmia, Isolated 6 |
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Retinal fold, Microcornea |
OMIM:613517 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
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Retinal neovascularization |
OMIM:619074 |
Choroideremia |
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Abnormality of retinal pigmentation |
ORPHA:180 |
Corneal Endothelial Dystrophy |
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Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... |
OMIM:217700 |
Mucolipidosis Type Iv |
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Retinopathy, Corneal opacity, Abnormality of retinal pigmentation |
ORPHA:578 |
Retinitis Pigmentosa 37 |
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Rod-cone dystrophy, Posterior subcapsular cataract, Nuclear cataract, Cystoid macular degeneratio... |
OMIM:611131 |
Coloboma, Ocular, Autosomal Dominant |
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Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anoma... |
OMIM:120200 |
Retinitis Pigmentosa 28 |
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Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor |
OMIM:606068 |
Cardiomyopathy, Familial Hypertrophic, 11 |
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Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... |
OMIM:612098 |
Cednik Syndrome |
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Downslanted palpebral fissures, Congestive heart failure, Pachygyria, Polymicrogyria |
ORPHA:66631 |
Iris Pigment Epithelium Anomalies |
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Iris cyst |
OMIM:601616 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
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Retinal detachment, Cataract, Coloboma, Corneal opacity |
OMIM:613153 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Weight loss, Circulating... |
OMIM:613673 |
Corneal Dystrophy And Perceptive Deafness |
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Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Persistent Hyperplastic Primary Vitreous |
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Retinal fold, Hemorrhage of the eye, Tractional retinal detachment, Leukocoria, Macular hypoplasi... |
ORPHA:91495 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
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Congestive heart failure |
OMIM:301021 |
Atrial Standstill |
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Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
Exudative Vitreoretinopathy 4 |
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Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Posterior vitreo... |
OMIM:601813 |
Fixed Subaortic Stenosis |
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Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... |
ORPHA:3092 |
Orbital Margin, Hypoplasia Of |
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Congenital extraocular muscle anomaly, Lower eyelid coloboma, Lacrimal duct atresia |
OMIM:165600 |
Retinal Dystrophy With Or Without Macular Staphyloma |
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Retinal dystrophy, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... |
OMIM:617547 |
X-Linked Recessive Ocular Albinism |
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Abnormal pupil morphology, Giant melanosomes in melanocytes, Abnormal macular morphology, Ocular ... |
ORPHA:54 |
Eem Syndrome |
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Retinopathy, Absent eyebrow, Macular dystrophy, Abnormality of retinal pigmentation |
ORPHA:1897 |
Oculoauricular Syndrome |
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Rod-cone dystrophy, Morning glory anomaly, Posterior embryotoxon, Cone/cone-rod dystrophy, Poster... |
OMIM:612109 |
Amoebic Keratitis |
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Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Harel-Yoon Syndrome |
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Upslanted palpebral fissure, Optic atrophy, Developmental cataract, Hypertrophic cardiomyopathy, ... |
OMIM:617183 |
Developmental And Epileptic Encephalopathy 48 |
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Rod-cone dystrophy, Hypsarrhythmia, Long eyelashes, Long palpebral fissure, Proptosis, Cerebral a... |
OMIM:617276 |
Cardiomyopathy, Dilated, 1Nn |
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Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
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Chorioretinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Nummular ... |
OMIM:618697 |
Retinitis Pigmentosa 72 |
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Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:616469 |
Congenital Stationary Night Blindness |
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Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... |
ORPHA:215 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
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Tortuosity of conjunctival vessels, Macular degeneration, Ptosis, Cataract, Cerebellar atrophy |
ORPHA:284289 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
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Retinal degeneration, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Keratoconus, ... |
ORPHA:542306 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
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Retinal dystrophy, Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Ir... |
ORPHA:231736 |
Coronary Arterial Fistula |
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Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitations, Patent ... |
ORPHA:2041 |
Enhanced S-Cone Syndrome |
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Macular edema, Vitreoretinopathy, Retinoschisis, Cataract, Pigmentary retinopathy |
OMIM:268100 |
Leber Congenital Amaurosis 6 |
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Cataract, Keratoconus, Attenuation of retinal blood vessels |
OMIM:613826 |
Developmental And Epileptic Encephalopathy 28 |
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Retinal degeneration, Cerebral atrophy, Optic atrophy, Epicanthus |
OMIM:616211 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,... |
ORPHA:71212 |
Retinal Cone Dystrophy 4 |
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Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
Cardiomyopathy, Dilated, 1D |
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Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... |
OMIM:601494 |
Combined Oxidative Phosphorylation Deficiency 17 |
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Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:615440 |
Oculocutaneous Albinism, Type Viii |
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Hypopigmentation of the skin, Iris transillumination defect, Hypopigmentation of hair, Hypoplasia... |
OMIM:619165 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
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Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... |
OMIM:600791 |
Microcephaly 5, Primary, Autosomal Recessive |
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Highly arched eyebrow, Hearing impairment, Proptosis |
OMIM:608716 |
Arthrogryposis, Distal, Type 5 |
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Keratoglobus, Retinal fold, Epicanthus, Blepharophimosis, Abnormality of retinal pigmentation, As... |
OMIM:108145 |
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
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Posterior subcapsular cataract, Telecanthus, Chorioretinal degeneration, Microcornea |
OMIM:615458 |
Familial Dilated Cardiomyopathy |
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Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
Microcephaly-Cardiomyopathy Syndrome |
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Dilated cardiomyopathy, Abnormality of retinal pigmentation |
ORPHA:2515 |
Familial Pterygium Of The Conjunctiva |
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Opacification of the corneal stroma |
ORPHA:2989 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
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Photoreceptor layer loss on macular OCT, Retinal thinning, Retinal pigment epithelial mottling, M... |
OMIM:145350 |
Phacoanaphylactic Uveitis |
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Retinal arteritis, Vitreoretinopathy, Cystoid macular edema, Anterior chamber flare grade 1+, Abn... |
ORPHA:209959 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Abnormal macular morphology, White eyelas... |
ORPHA:897 |
Bardet-Biedl Syndrome 21 |
|
Rod-cone dystrophy, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Hyperautofluoresc... |
OMIM:617406 |
X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy |
OMIM:616502 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Telangiectasia, Macular edema, Punctate vasculitis skin lesions, Raynaud phenomenon, Abnormal ret... |
ORPHA:247691 |
Retinitis Pigmentosa 1 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:180100 |
Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Iris transillumination defect, Iris hypopigmentation, White eyelash... |
ORPHA:79432 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ... |
OMIM:600858 |
Retinitis Pigmentosa 66 |
|
Posterior subcapsular cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Opti... |
OMIM:615233 |
Sialidosis Type 2 |
|
Corneal opacity, Abnormal macular morphology |
ORPHA:87876 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Small for gestational age, Hyperbilirubinemia, Erythroid hyperplasia, Reticuloc... |
OMIM:224120 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... |
ORPHA:86841 |
Cherubism |
|
Proptosis, Optic atrophy |
ORPHA:184 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals |
OMIM:219900 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Rod-cone dystrophy, Retinal coloboma |
ORPHA:363741 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Rod-cone dystrophy, Retinal coloboma |
OMIM:601794 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia |
OMIM:616335 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Retinitis Pigmentosa 41 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:612095 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure |
OMIM:236750 |
Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Downslanted palpebral fissures, Rod-cone dystrophy, Juvenile cataract, Patchy atrophy of the reti... |
ORPHA:436245 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertrophy, Congestive heart failure |
OMIM:605676 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Iris coloboma, Chorioretinal coloboma, Retinal coloboma |
ORPHA:2921 |
Atrial Septal Defect, Sinus Venosus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... |
ORPHA:99105 |
Anterior Segment Dysgenesis 2 |
|
Coloboma, Posterior synechiae of the anterior chamber, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation |
ORPHA:2196 |
Multiple Sulfatase Deficiency |
|
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of retinal pigmentation, C... |
ORPHA:585 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
Juvenile Glaucoma |
|
Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo... |
ORPHA:98977 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Pigmentary retinopathy, Optic atrophy |
OMIM:164500 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Retinal degeneration, Hypertrophic cardiomyopathy |
OMIM:616896 |
Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... |
ORPHA:79434 |
Zika Virus Disease |
|
Conjunctivitis, Retinal pigment epithelial mottling, Abnormal optic disc morphology, Optic disc h... |
ORPHA:448237 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Congestive heart failure, Reduced left ventricular eje... |
OMIM:614096 |
Granular Corneal Dystrophy Type Ii |
|
Granular corneal dystrophy, Central opacification of the cornea, Corneal crystals, Subepithelial ... |
ORPHA:98963 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Retinal detachment, Cataract |
OMIM:127200 |
Pontocerebellar Hypoplasia, Type 3 |
|
Macrotia, Optic atrophy, Long palpebral fissure, Proptosis, Cerebral atrophy, Cerebellar atrophy,... |
OMIM:608027 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Premature graying of hair, Hypopigmented skin patches, Vitiligo, Cat... |
ORPHA:3437 |
Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... |
OMIM:613194 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Cataract, Macular degeneration |
OMIM:619780 |
Mucolipidosis Iii Alpha/Beta |
|
Retinopathy, Hyperopic astigmatism, Retinal degeneration, Aortic regurgitation, Opacification of ... |
OMIM:252600 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Cataract, Temporal optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619649 |
Coats Disease |
|
Leukocoria, Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
Aniridia 1 |
|
Corneal erosion, Bilateral ptosis, Hypoplasia of the iris, Retinal vascular tortuosity, Corneal n... |
OMIM:106210 |