| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Retinitis Pigmentosa 24 |
|
Rod-cone dystrophy, Cone dystrophy |
OMIM:300155 |
| Cone-Rod Dystrophy, X-Linked, 2 |
|
Cone/cone-rod dystrophy, Cone dystrophy |
OMIM:300085 |
| Retinitis Pigmentosa, Late-Adult Onset |
|
Rod-cone dystrophy |
OMIM:268025 |
| Retinitis Pigmentosa, Y-Linked |
|
Rod-cone dystrophy |
OMIM:400004 |
| Retinitis Pigmentosa 55 |
|
Rod-cone dystrophy |
OMIM:613575 |
| Retinitis Pigmentosa 67 |
|
Rod-cone dystrophy |
OMIM:615565 |
| Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
| Platelet Aggregation, Spontaneous |
|
Spontaneous platelet aggregation, Abnormal platelet function |
OMIM:173400 |
| Athrombia, Essential |
|
Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggregation |
OMIM:209050 |
| Thrombocytopenia 7 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619130 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
| Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... |
OMIM:187950 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Retinal dystrophy, Drusen |
OMIM:267800 |
| Macular Degeneration, Age-Related, 13 |
|
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen |
OMIM:615439 |
| Platelet Signal Processing Defect |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... |
OMIM:173590 |
| Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
| Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
| Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
| Cone-Rod Dystrophy 7 |
|
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:603649 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation |
OMIM:618462 |
| Macular Dystrophy, Patterned, 3 |
|
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
| Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Granular macular appearance, Perifoveal ring of hyperautofluo... |
OMIM:608051 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... |
ORPHA:59181 |
| Central Areolar Choroidal Dystrophy |
|
Slow decrease in visual acuity, Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Re... |
ORPHA:75377 |
| Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
| Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
| Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Peripheral retinal atrophy, Drusen, Macular dystrophy, Abnormality of macular pigmentation |
OMIM:136550 |
| Retinitis Pigmentosa 42 |
|
Rod-cone dystrophy, Peripapillary atrophy, Cystoid macular edema, Perifoveal ring of hyperautoflu... |
OMIM:612943 |
| Persistent Placoid Maculopathy |
|
Amblyopia, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroidal neovascula... |
ORPHA:97341 |
| Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
| Leber Congenital Amaurosis 13 |
|
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... |
OMIM:612712 |
| Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
| Leber Congenital Amaurosis 19 |
|
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:618513 |
| Glanzmann Thrombasthenia 2 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... |
OMIM:619267 |
| Stargardt Disease 3 |
|
Macular flecks, Macular atrophy, Macular dystrophy |
OMIM:600110 |
| 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 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Stargardt Disease 4 |
|
Retinal flecks, Macular degeneration |
OMIM:603786 |
| Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
| Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Rod-cone dystrophy, Blindness, External genital hypoplasia |
OMIM:268010 |
| X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1852 |
| Choroidal Dystrophy, Central Areolar, 3 |
|
Drusen, Chorioretinal atrophy |
OMIM:613144 |
| Choroideremia |
|
Progressive visual loss, Choroideremia, Granular macular appearance, Retinal pigment epithelial m... |
OMIM:303100 |
| Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration, Increased neuronal autofluorescent lipopigment |
OMIM:601780 |
| Late-Onset Retinal Degeneration |
|
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... |
OMIM:605670 |
| Macular Dystrophy, Patterned, 2 |
|
Foveal hyperpigmentation, Drusen |
OMIM:608970 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Blindness, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the reti... |
OMIM:180210 |
| Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
| Liberfarb Syndrome |
|
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... |
OMIM:618889 |
| Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid |
OMIM:153700 |
| Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
| Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
| Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Blindness, Retinal thinning, Severe... |
ORPHA:41751 |
| Retinitis Pigmentosa 31 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
| Retinitis Pigmentosa 11 |
|
Rod-cone dystrophy, Blindness, Macular edema, Reduced visual acuity, Macular degeneration, Macula... |
OMIM:600138 |
| Optic Atrophy 9 |
|
Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Paracentral scotoma, Visual impa... |
OMIM:616289 |
| Macular Dystrophy, Vitelliform, 5 |
|
Central scotoma, Moderately reduced visual acuity, Vitelliform-like macular lesions, Reduced visu... |
OMIM:616152 |
| Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Macular drusen |
OMIM:608850 |
| Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
| Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... |
OMIM:607921 |
| Bardet-Biedl Syndrome 13 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:615990 |
| Retinitis Pigmentosa 29 |
|
Rod-cone dystrophy, Blindness, Attenuation of retinal blood vessels |
OMIM:612165 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
| Retinal Cone Dystrophy 1 |
|
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:180020 |
| Retinitis Pigmentosa 80 |
|
Progressive visual loss, Blindness, Macular atrophy, Bone spicule pigmentation of the retina, Att... |
OMIM:617781 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... |
OMIM:615888 |
| Retinitis Pigmentosa 39 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:613809 |
| Immunodeficiency 18 |
|
Recurrent otitis media, Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-... |
OMIM:615615 |
| Retinitis Pigmentosa 73 |
|
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Visual field defect... |
OMIM:616544 |
| Retinitis Pigmentosa 62 |
|
Rod-cone dystrophy, Reduced visual acuity, Visual field defect, Bone spicule pigmentation of the ... |
OMIM:614181 |
| Retinitis Pigmentosa 4 |
|
Rod-cone dystrophy, Blindness, Retinal atrophy, Visual field defect, Bone spicule pigmentation of... |
OMIM:613731 |
| Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Attenuation of retinal b... |
OMIM:619531 |
| Retinitis Pigmentosa 32 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:609913 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
| Retinitis Pigmentosa 33 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:610359 |
| Retinitis Pigmentosa 76 |
|
Peripapillary atrophy, Retinal thinning, Hyperautofluorescent macular lesion, Bone spicule pigmen... |
OMIM:617123 |
| Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
| Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration, Central scoto... |
OMIM:600977 |
| Bothnia Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... |
ORPHA:85128 |
| Retinitis Pigmentosa 47 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Visual impairment, Pigmentary retinopathy, Nyctalopia |
OMIM:613758 |
| Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Retinal atrophy, Visual field defect, Bone spicule pigmentation of the retina... |
OMIM:615725 |
| Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
| Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
| Leber Congenital Amaurosis 12 |
|
Congenital blindness, Abnormality of macular pigmentation |
OMIM:610612 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Increased neuronal autofluorescent lipopigment, Retinal degeneration, Increased extraneuronal aut... |
OMIM:204500 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
| Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia |
ORPHA:1243 |
| Macular Dystrophy, Patterned, 1 |
|
Reduced visual acuity, Choroidal neovascularization, Pattern dystrophy of the retina, Reticular r... |
OMIM:169150 |
| Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... |
OMIM:304020 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy |
OMIM:617879 |
| Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
| Stargardt Disease |
|
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... |
ORPHA:827 |
| Retinitis Pigmentosa 27 |
|
Rod-cone dystrophy, Blindness, Macular edema, Macular atrophy, Peripapillary chorioretinal atroph... |
OMIM:613750 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Abnormal platelet count, Impaired ristocetin-induced platelet aggregatio... |
OMIM:614201 |
| Retinitis Pigmentosa 81 |
|
Retinal pigment epithelial atrophy, Reduced visual acuity, Bone spicule pigmentation of the retin... |
OMIM:617871 |
| Choroideremia |
|
Progressive visual loss, Abnormality of retinal pigmentation, Visual impairment, Myopia, Nyctalop... |
ORPHA:180 |
| Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation, Color vision defect, Visual impairment, Photophobia, Nyctalopia |
ORPHA:1872 |
| Cone-Rod Dystrophy 11 |
|
Macular degeneration, Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:610381 |
| Glanzmann Thrombasthenia 1 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... |
OMIM:273800 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
| Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
| Retinitis Pigmentosa 17 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Color vision defect, Photophobia, Ny... |
OMIM:600852 |
| Senior-Loken Syndrome 6 |
|
Reduced visual acuity, Rod-cone dystrophy, Visual impairment |
OMIM:610189 |
| Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor |
OMIM:609021 |
| Retinitis Pigmentosa 54 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613428 |
| Retinitis Pigmentosa 70 |
|
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... |
OMIM:615922 |
| Macular Dystrophy, Vitelliform, 1 |
|
Visual field defect, Vitelliform-like macular lesions, Visual impairment, Reduced visual acuity, ... |
OMIM:153840 |
| Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome |
|
Severely reduced visual acuity, Rod-cone dystrophy |
ORPHA:3011 |
| Sorsby Fundus Dystrophy |
|
Macular dystrophy, Blindness, Chorioretinal atrophy |
OMIM:136900 |
| Retinitis Pigmentosa 61 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:614180 |
| Retinitis Pigmentosa 78 |
|
Reduced visual acuity, Visual field defect, Cystoid macular edema, Photopsia, Optic disc pallor, ... |
OMIM:617433 |
| Retinitis Pigmentosa 35 |
|
Abnormality of skin pigmentation, Rod-cone dystrophy, Blindness, Cone/cone-rod dystrophy, Nyctalopia |
OMIM:610282 |
| Retinitis Pigmentosa 57 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613582 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Blindness, Optic atrophy, Visual loss, Cerebral atrophy, Cerebellar atrophy, Neurode... |
OMIM:610951 |
| Ataxia-Tapetoretinal Degeneration Syndrome |
|
Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:1178 |
| Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
| Familial Drusen |
|
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... |
ORPHA:75376 |
| Retinitis Pigmentosa 7 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Constriction of peripheral visual field... |
OMIM:608133 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Retinal degeneration, Optic atrophy |
OMIM:614322 |
| Retinitis Pigmentosa 90 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:619007 |
| Platelet Disorder, Undefined |
|
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
| Newfoundland Rod-Cone Dystrophy |
|
Retinal dystrophy, Scotoma, Color vision defect, Visual impairment, Nyctalopia |
OMIM:607476 |
| Retinitis Pigmentosa 19 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Reduced visual acuity, Bone spicule pigme... |
OMIM:601718 |
| Leber Hereditary Optic Neuropathy, Autosomal Recessive |
|
Central retinal vessel vascular tortuosity, Retinal nerve fiber edema, Central scotoma, Retinal t... |
OMIM:619382 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Reduced visual acuity, Blindness, Macular dystrophy |
OMIM:601553 |
| Retinitis Pigmentosa 1 |
|
Rod-cone dystrophy, Optic disc pallor, Scotoma, Bone spicule pigmentation of the retina, Attenuat... |
OMIM:180100 |
| Macular Dystrophy, Vitelliform, 4 |
|
Moderately reduced visual acuity, Vitelliform-like macular lesions, Drusen, Macular dystrophy |
OMIM:616151 |
| Bardet-Biedl Syndrome 6 |
|
Rod-cone dystrophy, External genital hypoplasia, Vaginal atresia, Hypospadias, Pigmentary retinop... |
OMIM:605231 |
| Usher Syndrome, Type Iv |
|
Retinal atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluoresc... |
OMIM:618144 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Retinitis Pigmentosa 63 |
|
Blurred vision, Rod-cone dystrophy, Nyctalopia, Optic disc pallor |
OMIM:614494 |
| Cone-Rod Dystrophy 16 |
|
Progressive visual loss, Rod-cone dystrophy, Cone/cone-rod dystrophy, Reduced visual acuity, Macu... |
OMIM:614500 |
| Glanzmann Thrombasthenia |
|
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... |
ORPHA:849 |
| Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
| Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Pigmentary retinopathy, Abnormality of retinal pigmentation |
OMIM:179840 |
| Retinitis Pigmentosa 69 |
|
Perifoveal hypoautofluorescence, Rod-cone dystrophy, Constriction of peripheral visual field, Red... |
OMIM:615780 |
| Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
| Retinitis Pigmentosa 28 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Constriction of peripheral visual fi... |
OMIM:606068 |
| Macular Dystrophy, Vitelliform, 3 |
|
Choroidal neovascularization, Macular atrophy, Photophobia, Color vision defect, Vitelliform-like... |
OMIM:608161 |
| Progressive Bifocal Chorioretinal Atrophy |
|
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy |
ORPHA:75373 |
| Retinitis Pigmentosa 79 |
|
Reduced visual acuity, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of r... |
OMIM:617460 |
| Retinitis Pigmentosa 92 |
|
Paracentral scotoma, Constriction of peripheral visual field, Visual impairment, Pigmentary retin... |
OMIM:619614 |
| Cone-Rod Dystrophy 12 |
|
Cone/cone-rod dystrophy, Central scotoma, Color vision defect, Reduced visual acuity, Bull's eye ... |
OMIM:612657 |
| Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
| Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Tractional retinal detachment, Blindness, Abnormal macular morphology, Retin... |
ORPHA:90050 |
| Macular Dystrophy, Retinal, 4 |
|
Reduced visual acuity, Choroidal neovascularization, Reduced OCT-measured foveal thickness, Nycta... |
OMIM:619977 |
| Retinitis Pigmentosa 20 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Visual impairment, Severely reduced vis... |
OMIM:613794 |
| Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... |
OMIM:603075 |
| Leber Congenital Amaurosis 4 |
|
Blindness, Cone/cone-rod dystrophy, Reduced visual acuity, Macular atrophy, Attenuation of retina... |
OMIM:604393 |
| Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... |
OMIM:143200 |
| Retinitis Pigmentosa 18 |
|
Retinal arteriolar constriction, Rod-cone dystrophy, Scotoma, Progressive visual field defects, N... |
OMIM:601414 |
| Retinitis Pigmentosa 3 |
|
Perifoveal hypoautofluorescence, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Pho... |
OMIM:300029 |
| Bothnia Retinal Dystrophy |
|
Retinal dystrophy, Macular degeneration |
OMIM:607475 |
| Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Reduced visual acuity, Retinal dystrophy, Central scotoma, Photophobia, Nyctal... |
OMIM:616079 |
| Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... |
OMIM:620102 |
| Retinitis Pigmentosa 38 |
|
Progressive visual loss, Rod-cone dystrophy, Macular atrophy, Constriction of peripheral visual f... |
OMIM:613862 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, Macrothr... |
OMIM:187800 |
| Cone-Rod Dystrophy 15 |
|
Retinal pigment epithelial atrophy, Progressive visual loss, Rod-cone dystrophy, Attenuation of r... |
OMIM:613660 |
| Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
| Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
| Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy, Photophobia, Reduced visual acuity, Nyctalopia |
OMIM:616502 |
| Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Attenuation of retinal blood vessels, Optic atrophy, Reduced visual acuity |
OMIM:165510 |
| Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
| Cone-Rod Dystrophy 2 |
|
Retinal pigment epithelial atrophy, Blindness, Cone/cone-rod dystrophy, Bone spicule pigmentation... |
OMIM:120970 |
| Retinitis Pigmentosa 40 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:613801 |
| Retinitis Pigmentosa 85 |
|
Rod-cone dystrophy, Progressive night blindness, Reduced visual acuity |
OMIM:618345 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinopathy, Corticospinal tract atrophy, Retinal pigment epithelial mottling, Rod-cone dystrophy |
OMIM:551500 |
| Achromatopsia |
|
Retinal pigment epithelial atrophy, Monochromacy, Abnormal macular morphology, Retinal pigment ep... |
ORPHA:49382 |
| Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time |
OMIM:314560 |
| Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Retinal degeneration |
OMIM:311000 |
| Retinitis Pigmentosa 71 |
|
Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h... |
OMIM:616394 |
| Retinitis Pigmentosa 2 |
|
Rod-cone dystrophy, Myopia, High myopia, Central scotoma, Pericentral scotoma, Constriction of pe... |
OMIM:312600 |
| Immunodeficiency 24 |
|
Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate... |
OMIM:615897 |
| Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Photophobia, Constriction of periph... |
OMIM:610478 |
| Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation |
OMIM:614009 |
| Fleck Retina Of Kandori |
|
Retinal flecks, Blindness, Nyctalopia |
OMIM:228990 |
| X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| Leber Congenital Amaurosis 2 |
|
Blindness, Reduced visual acuity, Attenuation of retinal blood vessels, Photophobia, Fundus atrop... |
OMIM:204100 |
| Retinitis Pigmentosa 9 |
|
Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cons... |
OMIM:180104 |
| Cone-Rod Dystrophy 13 |
|
Macular degeneration, Cone/cone-rod dystrophy |
OMIM:608194 |
| Retinitis Pigmentosa 88 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:618826 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
| Cavitary Optic Disc Anomalies |
|
Visual field defect, Reduced visual acuity, Peripapillary atrophy, Nyctalopia |
OMIM:611543 |
| Retinitis Pigmentosa 84 |
|
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:618220 |
| Congenital Stationary Night Blindness |
|
Retinal thinning, Congenital stationary night blindness with normal fundus, Abnormality of retina... |
ORPHA:215 |
| Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
| Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
| Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal blood vessels, Retinal flecks, ... |
OMIM:613194 |
| Cone-Rod Dystrophy 20 |
|
Tritanomaly, Cone/cone-rod dystrophy, Reduced visual acuity, Bone spicule pigmentation of the ret... |
OMIM:615973 |
| Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Severely reduced visual acuity, Blindness, Optic atrophy |
OMIM:309555 |
| Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Retinal degeneration, Cystoid macular degeneration, Macular atrophy |
OMIM:267760 |
| Cone Dystrophy 3 |
|
Progressive visual loss, Cone/cone-rod dystrophy, Reduced visual acuity, Macular atrophy, Photoph... |
OMIM:602093 |
| Microphthalmia, Isolated 5 |
|
Retinal pigment epithelial atrophy, High hypermetropia, Optic disc drusen, Foveoschisis, Reduced ... |
OMIM:611040 |
| Central Retinal Vein Occlusion |
|
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... |
ORPHA:411527 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephriti... |
OMIM:247800 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
| Leber Congenital Amaurosis 9 |
|
Optic atrophy, Reduced visual acuity, Ultra-low vision, Retinal dots, Retinal pigment epithelial ... |
OMIM:608553 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
| Oliver-Mcfarlane Syndrome |
|
Retinal degeneration, Pigmentary retinopathy, Central heterochromia |
OMIM:275400 |
| Usher Syndrome, Type Iiia |
|
Visual field defect, Rod-cone dystrophy, Nyctalopia, Reduced visual acuity |
OMIM:276902 |
| Fleck Retina, Familial Benign |
|
Retinal flecks, Nyctalopia, Visual impairment |
OMIM:228980 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Lattice retinal degeneration, Rhegmatogenous retinal detachment |
OMIM:619248 |
| Optic Atrophy 12 |
|
Optic atrophy, Reduced visual acuity, Photophobia, Dyschromatopsia, Abnormal Ishihara plate test,... |
OMIM:618977 |
| Retinal Dystrophy And Obesity |
|
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... |
OMIM:616188 |
| Macular Dystrophy With Central Cone Involvement |
|
Red-green dyschromatopsia, Reduced visual acuity, High myopia, Central scotoma, Perifoveal ring o... |
OMIM:616170 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Abnormal flash visual evoked potentials, Macular degeneration, Bone spicul... |
OMIM:618195 |
| Retinitis Pigmentosa |
|
Rod-cone dystrophy, Constriction of peripheral visual field, Abnormality of fundus pigmentation, ... |
OMIM:268000 |
| Leber Congenital Amaurosis 1 |
|
Optic disc drusen, Blindness, Reduced visual acuity, Attenuation of retinal blood vessels, Hepato... |
OMIM:204000 |
| Achromatopsia 7 |
|
Macular atrophy, Central scotoma, Achromatopsia, Photophobia, Hypoplasia of the fovea, Reduced vi... |
OMIM:616517 |
| Fundus Albipunctatus |
|
Retinal flecks, Fundus albipunctatus, Nyctalopia |
OMIM:136880 |
| Retinal Capillary Malformation |
|
Progressive visual loss, Vitreous hemorrhage, Amblyopia, Blindness, Retinal exudate, Central fund... |
ORPHA:71213 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal fold, Abnormality of skin pigmentation, Retinal dystrophy, Abnormality of retinal pigment... |
OMIM:251270 |
| Retinitis Pigmentosa 6 |
|
Rod-cone dystrophy, Constriction of peripheral visual field, Chorioretinal degeneration, Pigmenta... |
OMIM:312612 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Macular degeneration, Increased extraneu... |
OMIM:204200 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar vermis atrophy, Retinal pigment epithelial mottling, Cerebellar atrophy, Optic disc pa... |
OMIM:619389 |
| Tritanopia |
|
Tritanomaly, Abnormal retinal morphology, Reduced visual acuity, Photophobia, Color vision test a... |
ORPHA:88629 |
| Macular Degeneration, Age-Related, 3 |
|
Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization, Drusen |
OMIM:608895 |
| Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... |
OMIM:619924 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Chorioretinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Nummular ... |
OMIM:618697 |
| Temporal Arteritis |
|
Retinal arteritis, Blindness |
OMIM:187360 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level |
OMIM:233650 |
| Exudative Vitreoretinopathy 5 |
|
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exuda... |
OMIM:613310 |
| Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... |
OMIM:616108 |
| Nephronophthisis 15 |
|
Retinal degeneration |
OMIM:614845 |
| Immunoglobulin A Deficiency 2 |
|
Autoimmunity, Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Optic atrophy, Retinal degeneration, Macular degeneration, Increased neuronal autofluorescent lip... |
OMIM:256730 |
| Leber Congenital Amaurosis 16 |
|
Reduced visual acuity, Visual field defect, Photophobia, Visual impairment, Optic disc pallor, Ny... |
OMIM:614186 |
| Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Photophobia, Dyschromatopsia, Visual impairment, Reduced visual acuity, ... |
OMIM:613093 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, B lymphocytopenia, T lymphocytopenia, Inflammatory abnormality of the sk... |
ORPHA:277 |
| Retinal Cone Dystrophy 3B |
|
Cone/cone-rod dystrophy, Scotoma, Macular atrophy, Photophobia, Myopia, Reduced visual acuity, Ny... |
OMIM:610356 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Minimal change glomerulonephritis, Autoimmunity, Impaired lymphocyte tra... |
OMIM:617006 |
| Usher Syndrome, Type Iid |
|
Rod-cone dystrophy, Nyctalopia |
OMIM:611383 |
| Retinitis Pigmentosa 49 |
|
Rod-cone dystrophy, Reduced visual acuity, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:613756 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Scotoma, Optic atrophy, Reduced visual acuity |
OMIM:165300 |
| Retinitis Pigmentosa 12 |
|
Rod-cone dystrophy, Optic disc pallor, Reduced visual acuity, Bone spicule pigmentation of the re... |
OMIM:600105 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Abnormal platelet function |
ORPHA:231393 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Reduced visual acuity, Chorioretinal dysplasia, Visual impairment |
OMIM:616335 |
| Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy, Optic disc pallor, Drusen, Nyctalopia |
OMIM:618632 |
| Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... |
OMIM:617443 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Sinusitis, Otitis media, Decreased proportion of CD... |
OMIM:312863 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Atopic dermatitis, Pneumonia, T lymphocytopenia, Abnormally low T cell receptor excision circle l... |
OMIM:618806 |
| Retinitis Pigmentosa 66 |
|
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Central scotoma, ... |
OMIM:615233 |
| Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
| Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... |
OMIM:610163 |
| Diabetes And Deafness, Maternally Inherited |
|
Retinal degeneration, Pigmentary retinopathy |
OMIM:520000 |
| Retinitis Pigmentosa 77 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:617304 |
| Retinitis Pigmentosa 83 |
|
Rod-cone dystrophy, Asteroid hyalosis, Vitreous floaters, Bone spicule pigmentation of the retina... |
OMIM:618173 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... |
OMIM:155100 |
| Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy |
OMIM:619090 |
| Bardet-Biedl Syndrome 4 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615982 |
| Blue Cone Monochromacy |
|
Blue cone monochromacy, Photophobia, Visual impairment, Myopia, Reduced visual acuity, Abnormalit... |
OMIM:303700 |
| Leber Congenital Amaurosis 14 |
|
Congenital blindness, Rod-cone dystrophy, Optic disc pallor, Retinal dystrophy, Photophobia, Redu... |
OMIM:613341 |
| Retinitis Pigmentosa 86 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:618613 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Lattice retinal degeneration, Vitreous floaters, Peripheral vitreoretinal deg... |
OMIM:614292 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Bornholm Eye Disease |
|
Deuteranopia, Amblyopia, Protanopia, Abnormality of retinal pigmentation, Optic nerve hypoplasia,... |
OMIM:300843 |
| Bardet-Biedl Syndrome 16 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615993 |
| Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Central scotoma, Visual loss, Colo... |
OMIM:604116 |
| Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation |
OMIM:609821 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... |
ORPHA:506353 |
| Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, Reduced natural killer cell activity, ... |
OMIM:300400 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Retinal degeneration, Cerebral cortical atrophy, Increased neuronal autofluor... |
OMIM:256731 |
| Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
| Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Abnormality of vision |
ORPHA:294 |
| Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
| Retinitis Pigmentosa 41 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:612095 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
| Bardet-Biedl Syndrome 5 |
|
Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Macular dystrophy, Reduced visual ... |
OMIM:615983 |
| Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
| Retinitis Pigmentosa 58 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613617 |
| Morm Syndrome |
|
Retinal atrophy, Retinal dystrophy |
ORPHA:75858 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... |
OMIM:305390 |
| Spondylometaphyseal Dysplasia, Axial |
|
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:602271 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Autoimmunity,... |
ORPHA:169079 |
| Retinitis Pigmentosa 60 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Reduced visual acuity, Bone spicule pigme... |
OMIM:613983 |
| Cone-Rod Dystrophy 8 |
|
Retinal arteriolar constriction, Blindness, Cone/cone-rod dystrophy, Macular degeneration, Abnorm... |
OMIM:605549 |
| Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Reduced visual acuity, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:180105 |
| Night Blindness, Congenital Stationary, Type 1F |
|
Retinal perforation, High myopia, Reduced visual acuity, Congenital stationary night blindness, N... |
OMIM:615058 |
| Cone-Rod Dystrophy 18 |
|
Cone/cone-rod dystrophy, Foveal atrophy, Foveal hyperpigmentation, Central scotoma, Reduced visua... |
OMIM:615374 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Autoimmunity, Lymphopenia, Autoimmune thrombocytopenia, Recurrent ot... |
ORPHA:444463 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Tritanomaly, Retinal dystrophy, Visual impairment, Peripheral retinal atrophy, Reduced visual acu... |
OMIM:615147 |
| Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Reduced visual acuity, Myopia, Central scotoma, Photophobia, Color visio... |
OMIM:300476 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
| Canavan Disease |
|
Abnormality of visual evoked potentials, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:141 |
| Immunodeficiency 15A |
|
Acne inversa, Decreased proportion of CD8-positive T cells, Cutaneous abscess, Recurrent sinusiti... |
OMIM:618204 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Bronchiectasis, Decreased circul... |
OMIM:615513 |
| Jalili Syndrome |
|
High hypermetropia, Monochromacy, Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, M... |
OMIM:217080 |
| Nystagmus 2, Congenital, Autosomal Dominant |
|
Reduced visual acuity, Mildly reduced visual acuity, Visual impairment |
OMIM:164100 |
| Bardet-Biedl Syndrome 2 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615981 |
| Retinitis Pigmentosa 51 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613464 |
| Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
| Retinal Cone Dystrophy 3A |
|
Reduced visual acuity, Cone dystrophy, Dyschromatopsia, Photophobia, High myopia, Nyctalopia |
OMIM:610024 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Retinal dystrophy, Reduced visual acuity, Micropenis, Nyctalopia |
OMIM:610156 |
| Retinitis Pigmentosa 72 |
|
Rod-cone dystrophy, Peripapillary atrophy, Reduced visual acuity, Bone spicule pigmentation of th... |
OMIM:616469 |
| Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Chorioretinal atrophy, Posterior vitreous detachment, Retinal detach... |
OMIM:616468 |
| Acute Zonal Occult Outer Retinopathy |
|
Blurred vision, Photopsia, Abnormal retinal vascular morphology, Rod-cone dystrophy, Hemianopia, ... |
ORPHA:284454 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
| Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
| Irvan Syndrome |
|
Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... |
ORPHA:209943 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
| Vaginal Atresia |
|
Imperforate hymen, Pelvic mass, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, C... |
ORPHA:65681 |
| Exudative Vitreoretinopathy 4 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Blindness, Poste... |
OMIM:601813 |
| Cone-Rod Dystrophy 6 |
|
Hemeralopia, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, A... |
OMIM:601777 |
| Gyrate Atrophy Of Choroid And Retina |
|
Macular thickening, Blindness, Foveoschisis, Chorioretinal atrophy, Visual impairment, Myopia, Ny... |
OMIM:258870 |
| Leber Congenital Amaurosis 8 |
|
Choriocapillaris atrophy, Chorioretinal atrophy, Macular coloboma, Pigmentary retinopathy, Nummul... |
OMIM:613835 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... |
OMIM:193235 |
| Immunodeficiency 50 |
|
Neutropenia, Eczema, Lymphopenia, Decreased circulating antibody level |
OMIM:300988 |
| Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
| Retinitis Pigmentosa |
|
Blindness, Abnormal testis morphology, Optic atrophy, Hypogonadism, Hypoplasia of penis, Progress... |
ORPHA:791 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
| Retinitis Pigmentosa 59 |
|
Rod-cone dystrophy, Cystoid macular edema, Constriction of peripheral visual field, Hepatomegaly,... |
OMIM:613861 |
| Sandhoff Disease |
|
Blindness, Splenomegaly, Cherry red spot of the macula, Hepatomegaly |
ORPHA:796 |
| Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Macular degeneration |
OMIM:612948 |
| Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... |
OMIM:133780 |
| Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, Rod-cone dystrophy, Hypogonadism, Hyperautofluorescent macular lesion, Decrease... |
OMIM:209900 |
| Birdshot Chorioretinopathy |
|
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
| Tatsumi Factor Deficiency |
|
Prolonged bleeding time |
OMIM:272650 |
| Retinitis Pigmentosa 45 |
|
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:613767 |
| Retinitis Pigmentosa 46 |
|
Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor |
OMIM:612572 |
| Immunodeficiency 104 |
|
T lymphocytopenia, Eczema, Recurrent otitis media, Chronic mucocutaneous candidiasis, Otitis medi... |
OMIM:608971 |
| Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment |
OMIM:147610 |
| Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic atrophy, Reduced visual acuity, Blind-spot enlargment, Severely reduced visual acuity, Opti... |
OMIM:614296 |
| Systemic Lupus Erythematosus 16 |
|
Perinuclear antineutrophil antibody positivity, Systemic lupus erythematosus, Antinuclear antibod... |
OMIM:614420 |
| Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... |
OMIM:267500 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Photoreceptor layer loss on macular OCT, Retinal thinning, Retinal pigment epithelial mottling, M... |
OMIM:145350 |
| Bardet-Biedl Syndrome 3 |
|
Rod-cone dystrophy, External genital hypoplasia, Visual impairment, Pigmentary retinopathy, Nycta... |
OMIM:600151 |
| Bardet-Biedl Syndrome 12 |
|
Rod-cone dystrophy, Hypogonadism, Hydrometrocolpos, Vaginal atresia, Abdominal mass |
OMIM:615989 |
| Cone-Rod Dystrophy 10 |
|
Progressive visual loss, Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of t... |
OMIM:610283 |
| Retinitis Pigmentosa 43 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613810 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Inter... |
ORPHA:231154 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Vaginal atresia, Hypoplasia of the uterus, Blindness, Optic nerve hypoplasia |
OMIM:617914 |
| Retinitis Pigmentosa 25 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:602772 |
| Bardet-Biedl Syndrome 21 |
|
Rod-cone dystrophy, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Hyperautofluoresc... |
OMIM:617406 |
| Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
| Eem Syndrome |
|
Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation |
ORPHA:1897 |
| Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegaly, Elevated proportion of CD4-negative... |
OMIM:601859 |
| Retinitis Pigmentosa 14 |
|
Retinal arteriolar constriction, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation... |
OMIM:600132 |
| Leber Congenital Amaurosis 11 |
|
Reduced visual acuity, Visual impairment |
OMIM:613837 |
| Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Choroideremia, Visual field defect, Iris hypopigmentation, Retinal nonattachment, Vitelliform-lik... |
ORPHA:99000 |
| Spinocerebellar Ataxia 7 |
|
Macular degeneration, Pigmentary retinopathy, Optic atrophy |
OMIM:164500 |
| Retinitis Punctata Albescens |
|
Progressive visual loss, Peripheral visual field loss, Retinal atrophy, Retinal pigment epithelia... |
ORPHA:52427 |
| Retinitis Pigmentosa 56 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Reduced visual acuity, Visual field defec... |
OMIM:613581 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Blindness, Optic atrophy |
ORPHA:2787 |
| Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Rod-cone dystrophy, Abnormal fundus morphology, Attenuation of retinal blood vessels, Absent reti... |
ORPHA:436274 |
| Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
| Senior-Loken Syndrome |
|
Progressive visual loss, Premature ovarian insufficiency, Retinal dystrophy, Abnormality of retin... |
ORPHA:3156 |
| Retinitis Pigmentosa 37 |
|
Tritanomaly, Rod-cone dystrophy, Red-green dyschromatopsia, Photophobia, Constriction of peripher... |
OMIM:611131 |
| Oguchi Disease |
|
Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness, Mizuo phenomenon |
ORPHA:75382 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal alpha granule content, Impaired platelet aggregation, Abnormal dense granule content, Pr... |
OMIM:601399 |
| Retinitis Pigmentosa 93 |
|
Retinal dots, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:619845 |
| Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Reduced visual acuity, Central scotoma, Color vision defect, Blind-spot enlarg... |
OMIM:616732 |
| Retinitis Pigmentosa 89 |
|
Hepatic fibrosis, Rod-cone dystrophy, Retinal thinning, Intrahepatic bile duct dilatation, Hepato... |
OMIM:618955 |
| Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation |
ORPHA:2196 |
| Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Defective T cell proliferation, Decreased proportion of CD8... |
OMIM:614493 |
| Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation, Fair hair, Photophobia, Hypoplasia of the fovea, Visual impairment,... |
OMIM:113750 |
| Narp Syndrome |
|
Rod-cone dystrophy, Cerebral cortical atrophy, Blindness, Retinal pigment epithelial mottling, Re... |
ORPHA:644 |
| Nanophthalmos 4 |
|
Hypermetropia, Reduced visual acuity, Optic disc drusen |
OMIM:615972 |
| Corneal Dystrophy, Avellino Type |
|
Reduced visual acuity, Visual impairment |
OMIM:607541 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Retinal degeneration |
OMIM:616896 |
| Chromosome Xq21 Deletion Syndrome |
|
Progressive visual loss, Choroideremia, Constriction of peripheral visual field, Chorioretinal at... |
OMIM:303110 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Prolonged blee... |
OMIM:139090 |
| Immunodeficiency 19 |
|
Recurrent otitis media, Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B ce... |
OMIM:615617 |
| Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Photoph... |
ORPHA:370097 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration |
OMIM:193230 |
| Night Blindness, Congenital Stationary, Type 1G |
|
Rod-cone dystrophy, Constriction of peripheral visual field, Visual impairment, Optic disc pallor... |
OMIM:616389 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Cerebral atrophy, Abnormality of retinal pigmentation |
ORPHA:397951 |
| Gyrate Atrophy Of Choroid And Retina |
|
Progressive visual loss, Blindness, Abnormal macular morphology, Chorioretinal hyperpigmentation,... |
ORPHA:414 |
| Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Iris transillumination defect, Photophobia, Hypopigmentation of hai... |
OMIM:619165 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Rod-cone dystrophy, Blindness, Optic atrophy, Moderate myopia, Attenuation of retinal blood vesse... |
OMIM:300578 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, T lymphocytopenia, Perianal abscess, Decreased circulating ant... |
OMIM:618108 |
| Immunodeficiency 102 |
|
Hypothyroidism, Bronchiectasis, Recurrent sinusitis, Hepatomegaly, Recurrent skin infections, Dec... |
OMIM:301082 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Conjunctivitis, Panhypogammaglobulinemia, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia... |
OMIM:601457 |
| Abetalipoproteinemia |
|
Retinal degeneration, Retinopathy |
OMIM:200100 |
| Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Optic nerve misro... |
ORPHA:79435 |
| Late-Onset Retinal Degeneration |
|
Tritanomaly, Peripapillary atrophy, Iris transillumination defect, Red-green dyschromatopsia, Abn... |
ORPHA:67042 |
| Mucolipidosis Iv |
|
Cerebellar atrophy, Retinal degeneration, Optic atrophy |
OMIM:252650 |
| Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time, Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Leber Congenital Amaurosis |
|
Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
| Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Bronchiectasis, Recurrent sinusiti... |
OMIM:615518 |
| Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:245800 |
| Åland Islands Eye Disease |
|
Hypopigmentation of the fundus, Hypoplasia of the fovea, Color vision defect, Myopia, Difficulty ... |
ORPHA:178333 |
| Optic Atrophy 1 |
|
Tritanomaly, Red-green dyschromatopsia, Optic atrophy, Centrocecal scotoma, Central scotoma, Visu... |
OMIM:165500 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Impaired platelet aggregation |
OMIM:605735 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, ... |
OMIM:613502 |
| Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Blindness, Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy, Reduce... |
ORPHA:440727 |
| Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
| Renal, Genital, And Middle Ear Anomalies |
|
Vaginal atresia |
OMIM:267400 |
| Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
| Cone-Rod Dystrophy 19 |
|
Perifoveal ring of hyperautofluorescence, High myopia, Cone/cone-rod dystrophy, Reduced visual ac... |
OMIM:615860 |
| Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Prolonged bleeding time, Macrothrombocytopenia, Impaired risto... |
OMIM:231200 |
| Retinitis Pigmentosa 75 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:617023 |
| Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Tritanomaly, Retinal pigment epithelial mottling, Photophobia, Parace... |
OMIM:619649 |
| Optic Pathway Glioma |
|
Precocious puberty, Blindness, Optic atrophy, Reduced visual acuity, Visual field defect, Visual ... |
ORPHA:2086 |
| Vitreoretinochoroidopathy |
|
Retinal arteriolar constriction, Vitreous hemorrhage, Blindness, Retinal arteriolar occlusion, Dy... |
OMIM:193220 |
| Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Rhegmatogenous retinal detachment, Optically empty vitreous |
OMIM:609508 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Leukemia, Increased circulating antibody level, Lymphocytosis, Au... |
OMIM:614470 |
| Hsd10 Mitochondrial Disease |
|
Retinal degeneration, Cerebral cortical atrophy, Optic atrophy |
OMIM:300438 |
| Poretti-Boltshauser Syndrome |
|
Retinal atrophy, Retinal dystrophy, Retinal thinning |
OMIM:615960 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
| Sjögren-Larsson Syndrome |
|
Macular degeneration, Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmenta... |
ORPHA:816 |
| Von Willebrand Disease, Type 3 |
|
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation |
OMIM:277480 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment, Congenital blindness, Hepatic steatosis |
ORPHA:436182 |
| Night Blindness, Congenital Stationary, Type 1B |
|
Hemeralopia, Bone spicule pigmentation of the retina, Myopia, Congenital stationary night blindne... |
OMIM:257270 |
| Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1259 |
| Developmental And Epileptic Encephalopathy 28 |
|
Retinal degeneration, Cerebral atrophy, Optic atrophy |
OMIM:616211 |
| Eales Disease |
|
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... |
ORPHA:40923 |
| Macrophthalmia, Colobomatous, With Microcornea |
|
Macular atrophy |
OMIM:602499 |
| Coats Disease |
|
Retinal detachment, Abnormal macular morphology, Abnormal retinal vascular morphology |
ORPHA:190 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic atrophy, Reduced visual acuity, Central scotoma, Dyschromatopsia, Constriction of periphera... |
OMIM:612989 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Rod-cone dystrophy, Retinal atrophy, Neuronal loss in central nervous system, Cerebral atrophy, I... |
OMIM:610127 |
| Immunodeficiency 81 |
|
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Skin rash, Reduced antigen-... |
OMIM:619374 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Antinuclear antibody positivity, Anti-thyroid peroxidase antibody positivity, Decreased lymphocyt... |
OMIM:618534 |
| Scheie Syndrome |
|
Retinal degeneration |
OMIM:607016 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Optic disc pallor, Blurred vision, Attenuation of retinal blood vessels, Color vision defect, Mac... |
ORPHA:364055 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1433 |
| Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
| Retinitis Pigmentosa 23 |
|
Retinal pigment epithelial atrophy, Absent foveal reflex, Rod-cone dystrophy, Attenuation of reti... |
OMIM:300424 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Freckling, Melanocytic nevus, Abnormality of macular pigmentation |
ORPHA:1573 |
| Cofs Syndrome |
|
Cerebral cortical atrophy, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1466 |
| Stickler Syndrome Type 2 |
|
Retinal detachment, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
| Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Abnormal platelet aggregation |
OMIM:614171 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal dystrophy, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... |
OMIM:617547 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased T cell activation, Bronchiectasis, Recurrent sinusitis, Decrea... |
OMIM:300853 |
| Hermansky-Pudlak Syndrome 3 |
|
Abnormal number of dense granules, Impaired platelet aggregation |
OMIM:614072 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Degeneration of the lateral corticospinal tracts, Retinal degeneration, Macular degeneration, Cer... |
OMIM:604360 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Retinal dysplasia |
OMIM:614830 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Rod-cone dystrophy, Abnormality of the liver, Constriction of peripheral visual field, Hypergonad... |
OMIM:614307 |
| Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Colitis, Splenomegaly |
OMIM:619164 |
| Eosinophilopenia |
|
Decreased eosinophil count, Autoimmunity, Allergic rhinitis |
OMIM:131430 |
| Sjogren-Larsson Syndrome |
|
Retinal pigment epithelial atrophy, Retinal thinning, Macular crystals, Macular degeneration, Mac... |
OMIM:270200 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Heterochromia iridis, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1390 |
| Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
| Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Reduced natural killer cell count, Erythroderma, Decreased circulating total IgM,... |
OMIM:619510 |
| Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
| Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:615986 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Crohn's disease, Perianal abscess, Hemolytic anemia, Granuloma, Eczema, Lymphopeni... |
OMIM:618935 |
| Spastic Paraplegia 82, Autosomal Recessive |
|
Cerebral atrophy, Reduced visual acuity, Optic atrophy |
OMIM:618770 |
| Night Blindness, Congenital Stationary, Type 1E |
|
Reduced visual acuity, High myopia, Congenital stationary night blindness, Visual impairment |
OMIM:614565 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy |
OMIM:264470 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Incre... |
ORPHA:169154 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Prolonged bleeding time... |
OMIM:187900 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
| X-Linked Neurodegenerative Syndrome, Hamel Type |
|
Blindness |
ORPHA:85336 |
| Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Vitreous floaters, Abnormal chorioretinal morphology, Vitritis |
OMIM:605808 |
| Oculocutaneous Albinism Type 1 |
|
Depigmented fundus, Generalized hypopigmentation of hair, Generalized hypopigmentation, White eye... |
ORPHA:352731 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Rhinitis, Panhypogammaglobulinemia, T lymphocytopenia, Lack of T cell function, Decreased lymphoc... |
ORPHA:572 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal fallopian tube morphology, Pulmonary lymphangiectasia, Hepatosplenomegaly, Abnormality o... |
ORPHA:1655 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
| Leber Congenital Amaurosis 15 |
|
Hemeralopia, Peripapillary atrophy, Reduced visual acuity, Dull foveal reflex, Retinal degenerati... |
OMIM:613843 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Acute myeloid leukemia, Eczema, Systemic lupus erythematosus, Bone marrow hypocellula... |
OMIM:616871 |
| Waardenburg-Shah Syndrome |
|
Abnormal macular morphology, Premature graying of hair, White eyelashes, Aganglionic megacolon, W... |
ORPHA:897 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia |
ORPHA:228312 |
| Microspherophakia With Hernia |
|
Retinal detachment |
OMIM:157150 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Hyperlipidemia, Hypercholesterolemia, Protein-losing enteropathy, Hypoalbuminemia |
OMIM:615863 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Macular degeneration, Cerebral cortical atrophy, Choroidal neovascularization |
ORPHA:404451 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Autoimmunity, Nephritis |
OMIM:216950 |
| Early-Onset X-Linked Optic Atrophy |
|
Progressive visual loss, Optic atrophy, Optic disc pallor, Central scotoma, Color vision defect, ... |
ORPHA:98890 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Retinopathy, Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Visual loss,... |
ORPHA:5 |
| Chilblain Lupus |
|
Malar rash, Chronic myelomonocytic leukemia, Inflammatory abnormality of the skin, Increased circ... |
ORPHA:90280 |
| Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
| C1Q Deficiency 1 |
|
Systemic lupus erythematosus, Autoimmunity |
OMIM:613652 |
| Ataxia With Vitamin E Deficiency |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation |
ORPHA:96 |
| Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
| Cone-Rod Dystrophy And Hearing Loss 1 |
|
Retinal atrophy, Macular degeneration |
OMIM:617236 |
| Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis |
ORPHA:313906 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Progressive visual loss, Retinal degeneration, Progressive night blindness, Paracentral scotoma, ... |
OMIM:210370 |
| Ramon Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3019 |
| Immunodeficiency 11 |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... |
OMIM:615206 |
| Leukodystrophy, Hypomyelinating, 14 |
|
Cerebellar atrophy, Blindness, Cerebral atrophy |
OMIM:617899 |
| Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... |
ORPHA:79434 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Brain atrophy, Retinal degeneration, Abnormal auditory evoked potentials, Macular atrophy, Attenu... |
OMIM:619260 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... |
OMIM:618986 |
| Cerebral Sclerosis, Diffuse, Scholz Type |
|
Blindness |
OMIM:302700 |
| Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Retinoschisis, Macular edema, Vitreoretinopathy |
OMIM:268100 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Optic atrophy, Macular atrophy, Cerebral atrophy, Cerebellar atrophy, Optic disc pallor |
OMIM:616171 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Retinal degeneration, Optic atrophy, Cone/cone-rod dystrophy |
OMIM:249270 |
| Renal Hypodysplasia/Aplasia 1 |
|
Primary amenorrhea, Vaginal atresia, Bicornuate uterus |
OMIM:191830 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Bronchiectasis... |
OMIM:617514 |
| Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:614076 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Vaginal atresia, Cryptorchidism, Optic atrophy, Septo-optic dysplasia |
ORPHA:3301 |
| Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Retinal atrophy |
OMIM:616722 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration, Small bowel diverticula |
OMIM:221400 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Pancolitis, Ileitis, Abnormal intestine morphology, Gastritis, Esophagitis, Protein-losing entero... |
OMIM:619079 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegaly, Elevated proportion of CD4-negative... |
OMIM:603909 |
| Usher Syndrome Type 1 |
|
Cerebral cortical atrophy, Hemianopia, Subcortical cerebral atrophy, Iris hypopigmentation, Scoto... |
ORPHA:231169 |
| Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Secondary amenorrhea, Decreased testicular size, Abnormalit |
