Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Retinal dystrophy, Drusen |
OMIM:267800 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Macular Degeneration, Age-Related, 13 |
|
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen |
OMIM:615439 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
Macular Dystrophy, Patterned, 3 |
|
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Cone-Rod Dystrophy 7 |
|
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:603649 |
Stargardt Disease 4 |
|
Retinal flecks, Macular degeneration |
OMIM:603786 |
Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Peripheral retinal atrophy, Drusen, Macular dystrophy, Abnormality of macular pigmentation |
OMIM:136550 |
Stargardt Disease 3 |
|
Macular flecks, Macular atrophy, Macular dystrophy |
OMIM:600110 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
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 31 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Leber Congenital Amaurosis 19 |
|
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:618513 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid |
OMIM:153700 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration, Increased neuronal autofluorescent lipopigment |
OMIM:601780 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... |
OMIM:180210 |
Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Macular drusen |
OMIM:608850 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Rod-cone dystrophy |
OMIM:268010 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... |
OMIM:603075 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Attenuation of retinal b... |
OMIM:619531 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... |
ORPHA:59181 |
Cone-Rod Dystrophy 11 |
|
Macular degeneration, Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:610381 |
Liberfarb Syndrome |
|
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... |
OMIM:618889 |
Retinal Cone Dystrophy 1 |
|
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:180020 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Retinitis Pigmentosa 33 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:610359 |
Retinitis Pigmentosa 70 |
|
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... |
OMIM:615922 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
Bothnia Retinal Dystrophy |
|
Retinal dystrophy, Macular degeneration |
OMIM:607475 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Increased neuronal autofluorescent lipopigment, Retinal degeneration, Increased extraneuronal aut... |
OMIM:204500 |
Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia |
ORPHA:1243 |
Retinitis Pigmentosa 32 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:609913 |
Retinitis Pigmentosa 81 |
|
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... |
OMIM:617871 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor |
OMIM:609021 |
Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:615725 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy |
OMIM:617879 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Retinal degeneration, Optic atrophy |
OMIM:614322 |
Bothnia Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... |
ORPHA:85128 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
Retinitis Pigmentosa 38 |
|
Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy, Optic disc pallor |
OMIM:613862 |
Cone-Rod Dystrophy 5 |
|
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy |
OMIM:600977 |
Central Areolar Choroidal Dystrophy |
|
Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin... |
ORPHA:75377 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... |
OMIM:143200 |
Retinitis Pigmentosa 11 |
|
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... |
OMIM:600138 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
Usher Syndrome, Type Iv |
|
Retinal atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluoresc... |
OMIM:618144 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Retinal degeneration |
OMIM:311000 |
Familial Drusen |
|
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... |
ORPHA:75376 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1852 |
Cone-Rod Dystrophy 13 |
|
Macular degeneration, Cone/cone-rod dystrophy |
OMIM:608194 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Lattice retinal degeneration, Rhegmatogenous retinal detachment |
OMIM:619248 |
Retinitis Pigmentosa 4 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:613731 |
Cone Dystrophy 3 |
|
Macular atrophy, Cone/cone-rod dystrophy |
OMIM:602093 |
Retinitis Pigmentosa 90 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:619007 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Retinal degeneration, Cystoid macular degeneration, Macular atrophy |
OMIM:267760 |
Retinitis Pigmentosa 88 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:618826 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Macular Dystrophy, Vitelliform, 3 |
|
Choroidal neovascularization, Macular atrophy, Vitelliform-like macular lesions, Drusen, Macular ... |
OMIM:608161 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Macular degeneration, Increased extraneu... |
OMIM:204200 |
Retinal Dystrophy And Obesity |
|
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... |
OMIM:616188 |
Retinitis Pigmentosa 73 |
|
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... |
OMIM:616544 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... |
ORPHA:827 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Retinitis Pigmentosa 19 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:601718 |
Progressive Bifocal Chorioretinal Atrophy |
|
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy |
ORPHA:75373 |
Macular Degeneration, Age-Related, 3 |
|
Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization, Drusen |
OMIM:608895 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Retinitis Pigmentosa 84 |
|
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:618220 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Optic atrophy, Retinal degeneration, Macular degeneration, Increased neuronal autofluorescent lip... |
OMIM:256730 |
Retinitis Pigmentosa 27 |
|
Rod-cone dystrophy, Macular edema, Macular atrophy, Peripapillary chorioretinal atrophy, Choriore... |
OMIM:613750 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
Retinitis Pigmentosa 80 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:617781 |
Nephronophthisis 15 |
|
Retinal degeneration |
OMIM:614845 |
Achromatopsia 7 |
|
Hypoplasia of the fovea, Macular atrophy, Absent foveal reflex |
OMIM:616517 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy |
OMIM:616502 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Hypoautofluorescent macu... |
OMIM:304020 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Microphthalmia, Isolated 5 |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... |
OMIM:611040 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:614500 |
Cone-Rod Dystrophy 15 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613660 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Lattice retinal degeneration, Vitreous floaters, Peripheral vitreoretinal deg... |
OMIM:614292 |
Oliver-Mcfarlane Syndrome |
|
Retinal degeneration, Pigmentary retinopathy |
OMIM:275400 |
Bardet-Biedl Syndrome 4 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615982 |
Bardet-Biedl Syndrome 16 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615993 |
Achromatopsia |
|
Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal pigment epithelial mottl... |
ORPHA:49382 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... |
OMIM:616108 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Retinal degeneration, Cerebral cortical atrophy, Increased neuronal autofluor... |
OMIM:256731 |
Central Retinal Vein Occlusion |
|
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... |
ORPHA:411527 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e... |
ORPHA:41751 |
Retinitis Pigmentosa 86 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:618613 |
Spondylometaphyseal Dysplasia, Axial |
|
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:602271 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Morm Syndrome |
|
Retinal atrophy, Retinal dystrophy |
ORPHA:75858 |
Retinitis Pigmentosa 77 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:617304 |
Diabetes And Deafness, Maternally Inherited |
|
Retinal degeneration, Pigmentary retinopathy |
OMIM:520000 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
Bardet-Biedl Syndrome 2 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615981 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:617460 |
Leber Congenital Amaurosis 4 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Macular atrophy, Cone/cone-rod dystrophy |
OMIM:604393 |
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Macular degeneration |
OMIM:612948 |
Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
Bardet-Biedl Syndrome 21 |
|
Rod-cone dystrophy, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Hyperautofluoresc... |
OMIM:617406 |
Birdshot Chorioretinopathy |
|
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:613767 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Chorioretinal atrophy, Posterior vitreous detachment, Retinal detach... |
OMIM:616468 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Peripheral retinal atrophy, Retinal dystrophy, Absent foveal reflex |
OMIM:615147 |
Oguchi Disease |
|
Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness, Mizuo phenomenon |
ORPHA:75382 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:180105 |
Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... |
OMIM:613194 |
Retinitis Pigmentosa 58 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613617 |
Retinitis Pigmentosa 41 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:612095 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Photoreceptor layer loss on macular OCT, Retinal thinning, Retinal pigment epithelial mottling, M... |
OMIM:145350 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Retinal degeneration |
OMIM:616896 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Vitreous floaters, Abnormal chorioretinal morphology, Vitritis |
OMIM:605808 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Pigmentary retinopathy, Optic atrophy |
OMIM:164500 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Retinal degeneration, Optic atrophy |
OMIM:252650 |
Abetalipoproteinemia |
|
Retinal degeneration, Retinopathy |
OMIM:200100 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... |
OMIM:618195 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
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 |
Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
Irvan Syndrome |
|
Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... |
ORPHA:209943 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Rod-cone dystrophy, Retinal atrophy, Neuronal loss in central nervous system, Cerebral atrophy, I... |
OMIM:610127 |
Hsd10 Mitochondrial Disease |
|
Retinal degeneration, Cerebral cortical atrophy, Optic atrophy |
OMIM:300438 |
Retinitis Pigmentosa 51 |
|
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613464 |
Leber Congenital Amaurosis 9 |
|
Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p... |
OMIM:608553 |
Poretti-Boltshauser Syndrome |
|
Retinal atrophy, Retinal dystrophy, Retinal thinning |
OMIM:615960 |
Developmental And Epileptic Encephalopathy 28 |
|
Retinal degeneration, Cerebral atrophy, Optic atrophy |
OMIM:616211 |
Retinitis Pigmentosa 56 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613581 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Macular atrophy |
OMIM:602499 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Degeneration of the lateral corticospinal tracts, Retinal degeneration, Macular degeneration, Cer... |
OMIM:604360 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610283 |
Sjogren-Larsson Syndrome |
|
Retinal pigment epithelial atrophy, Retinal thinning, Macular crystals, Macular degeneration, Mac... |
OMIM:270200 |
Scheie Syndrome |
|
Retinal degeneration |
OMIM:607016 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Retinitis Pigmentosa 23 |
|
Retinal pigment epithelial atrophy, Absent foveal reflex, Rod-cone dystrophy, Attenuation of reti... |
OMIM:300424 |
Cone-Rod Dystrophy 8 |
|
Retinal arteriolar constriction, Cone/cone-rod dystrophy, Macular degeneration, Abnormality of re... |
OMIM:605549 |
Retinal Cone Dystrophy 3B |
|
Macular atrophy, Cone/cone-rod dystrophy |
OMIM:610356 |
Retinitis Pigmentosa 60 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613983 |
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 |
Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:615986 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Optic atrophy, Macular atrophy, Cerebral atrophy, Cerebellar atrophy, Optic disc pallor |
OMIM:616171 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Macular degeneration, Cerebral cortical atrophy, Choroidal neovascularization |
ORPHA:404451 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Retinal pigment epithelial mottling, Yellow/white lesions of the retina, Macular... |
ORPHA:52427 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Retinal atrophy, Macular degeneration |
OMIM:617236 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Retinal degen... |
ORPHA:364055 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
Cone-Rod Dystrophy 2 |
|
Retinal pigment epithelial atrophy, Cone/cone-rod dystrophy, Bone spicule pigmentation of the ret... |
OMIM:120970 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Retinal degeneration, Optic atrophy, Cone/cone-rod dystrophy |
OMIM:249270 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Abnormality of macular pigmentation |
ORPHA:1573 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Chorioretinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Nummular ... |
OMIM:618697 |
Sjögren-Larsson Syndrome |
|
Macular degeneration, Retinopathy, Abnormality of retinal pigmentation |
ORPHA:816 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hyperphosphatemia |
OMIM:614207 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Retinal atrophy |
OMIM:616722 |
Alg6-Cdg |
|
Retinal degeneration, Rod-cone dystrophy |
ORPHA:79320 |
Aceruloplasminemia |
|
Retinal degeneration |
OMIM:604290 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme... |
OMIM:217080 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia |
OMIM:612462 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... |
OMIM:305390 |
Late-Onset Retinal Degeneration |
|
Peripapillary atrophy, Macular degeneration, Choroidal neovascularization, Multifocal subretinal ... |
ORPHA:67042 |
Bardet-Biedl Syndrome 17 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Retinal degeneration, Macular atrophy, Bone spicule ... |
OMIM:615994 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Retinal atrophy, Retinal dystrophy |
ORPHA:370022 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Retinal degeneration, Chorioretinal atrophy |
OMIM:210370 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Retinal degeneration, Macular degeneration |
OMIM:270700 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Retinal degeneration, Cerebral atrophy, Cerebellar atrophy, Optic disc pallor, Pigmentary retinop... |
ORPHA:79264 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia |
ORPHA:99845 |
Hypobetalipoproteinemia, Familial, 1 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615558 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Senior-Loken Syndrome 9 |
|
Retinal dystrophy, Rod-cone dystrophy, Macular degeneration |
OMIM:616629 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Refsum Disease, Classic |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:266500 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... |
OMIM:193235 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... |
OMIM:133780 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:611131 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Acute Zonal Occult Outer Retinopathy |
|
Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo... |
ORPHA:284454 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentials, Prolonged s... |
OMIM:616648 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Malignant Hyperthermia Of Anesthesia |
|
Cardiomyocyte mitochondrial proliferation, Hyperphosphatemia, Hyperkalemia, Elevated creatine kin... |
ORPHA:423 |
Hsd10 Disease, Infantile Type |
|
Rod-cone dystrophy, Frontotemporal cerebral atrophy, Optic atrophy, Retinal degeneration, Diffuse... |
ORPHA:391428 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Retinal pigment epithelial atrophy, Retinal atrophy, Epiretinal membrane, Photoreceptor layer los... |
OMIM:616959 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Retinal degeneration, Cerebral atrophy, Brain atrophy, Optic atrophy |
ORPHA:442835 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Macular degeneration |
OMIM:619780 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperphosphatemia, Calcinosis |
OMIM:211900 |
Joubert Syndrome 6 |
|
Retinal degeneration, Chorioretinal coloboma |
OMIM:610688 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Rod-cone dystrophy, Macular atrophy, Optic disc pallor |
OMIM:615434 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma |
OMIM:212550 |
Leber Congenital Amaurosis 15 |
|
Peripapillary atrophy, Dull foveal reflex, Retinal degeneration, Attenuation of retinal blood ves... |
OMIM:613843 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Hepatomegaly, C... |
OMIM:617713 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Hyperalaninemia, Hyperprolinemia, Perimembranous ventricular septal defect |
OMIM:619170 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94089 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Retinal degeneration |
OMIM:615630 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Macular degeneration |
ORPHA:284289 |
Canavan Disease |
|
Abnormality of visual evoked potentials, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:141 |
Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Elevated circulating creatine kinase concentratio... |
ORPHA:94093 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:601777 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Retinal degeneration |
ORPHA:542306 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Retinal degeneration, Neurodegeneration |
ORPHA:79244 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperuricemia, Hyperphosphatemia |
OMIM:239000 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... |
OMIM:618052 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Hyperammonemia, Hepat... |
OMIM:600649 |
Congenital Primary Aphakia |
|
Retinal dysplasia |
ORPHA:83461 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Patchy atrophy of the retinal pigment epithelium |
ORPHA:436245 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Hyperphosphatemia |
ORPHA:457059 |
Mucolipidosis Iii Alpha/Beta |
|
Retinal degeneration, Retinopathy |
OMIM:252600 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... |
OMIM:620135 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Retinal degeneration |
OMIM:615249 |
Nephronophthisis 11 |
|
Retinal degeneration |
OMIM:613550 |
Coats Disease |
|
Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
Timothy Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot |
OMIM:601005 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:79444 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Abnormal retinal nerve fiber layer morphology, Optic atrophy, Absent ... |
ORPHA:1215 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Retinal degeneration, Cerebral atrophy |
OMIM:272200 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Autosomal Dominant Hypocalcemia |
|
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia |
ORPHA:428 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Global brain atrophy, Amyotrophic lateral sclerosis, Neurofibrillary tangles |
OMIM:619132 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Retinal degeneration, Corpus callosum atrophy, Cerebral atrophy |
ORPHA:168491 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hyperalaninemia, Hyperprolinemia, Hepatomegaly |
OMIM:619064 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials, Cerebral atrophy |
OMIM:609304 |
Zika Virus Disease |
|
Retinal pigment epithelial mottling, Abnormal optic disc morphology, Macular atrophy, Optic disc ... |
ORPHA:448237 |
Axial Spondylometaphyseal Dysplasia |
|
Retinal dystrophy, Rod-cone dystrophy, Peripheral retinal degeneration, Optic atrophy |
ORPHA:168549 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Retinal degeneration, Rod-cone dystrophy, Cerebral cortical atrophy |
ORPHA:166035 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia |
OMIM:101800 |
Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:79443 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Oculocutaneous Albinism Type 1 |
|
Depigmented fundus, Optic nerve misrouting, Hypoplasia of the fovea, Abnormal morphology of the c... |
ORPHA:352731 |
Pseudoxanthoma Elasticum |
|
Retinal hemorrhage, Retinal peau d'orange, Optic disc drusen, Angioid streaks of the fundus, Macu... |
OMIM:264800 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal degeneration |
OMIM:250410 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Pericardial effusion, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly |
OMIM:614702 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Decreased plasma carnitine, Elevated circulating creatine kinase concentration, H... |
OMIM:212140 |
Werner Syndrome |
|
Retinal degeneration |
OMIM:277700 |
Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Hepatomegaly |
OMIM:269920 |
Familial Atrial Myxoma |
|
Cardiomegaly, Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma |
ORPHA:615 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Retinal atrophy, Cerebellar atrophy, Parietal cortical atrophy, Corpus callosum atrophy |
ORPHA:412057 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly |
OMIM:619051 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... |
ORPHA:860 |
Aceruloplasminemia |
|
Retinal degeneration, Macular degeneration, Abnormality of retinal pigmentation |
ORPHA:48818 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Increased circulating NT-proBNP concent... |
ORPHA:85451 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:618913 |
Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Myoc... |
ORPHA:31824 |
Senior-Loken Syndrome 8 |
|
Retinal dystrophy, Rod-cone dystrophy, Macular atrophy |
OMIM:616307 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Retinal degeneration |
ORPHA:96179 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Retinal flecks, Pallidal degeneration, B... |
ORPHA:157850 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Abnormality of visual evoked potentials, Neuronal loss in central nervous system, ... |
OMIM:256600 |
Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Retinal degeneration, Cerebral cortical atrophy, Corpus callosum atrophy |
OMIM:248500 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Cerebral cortical atrophy, Retinal degeneration, Atrophy of the spinal cord, Orthostatic hypotens... |
ORPHA:2822 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Macular atrophy, Abnormality of retin... |
ORPHA:85167 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Abnormality of visual e... |
OMIM:601455 |
Hemochromatosis, Type 1 |
|
Increased serum iron, Increased circulating ferritin concentration, Hepatomegaly, Cardiomegaly, S... |
OMIM:235200 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Retinal hemorrhage, Macular degeneration, Angioid streaks of the fundus |
OMIM:177850 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Elevated circulating creatine kinase concentration |
OMIM:618838 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormality of visual evoked potentials, Abnormality of soma... |
ORPHA:320401 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... |
ORPHA:3092 |
Refractory Celiac Disease |
|
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:398063 |
Retinitis Pigmentosa 43 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613810 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating creatine kinase concentration, Transient hyperlipidemia, Hyperammonemia, Hep... |
OMIM:255120 |
Congenital Toxoplasmosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:858 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Bardet-Biedl Syndrome 1 |
|
Rod-cone dystrophy, Hyperautofluorescent macular lesion, Retinal degeneration, Retinal dystrophy,... |
OMIM:209900 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia |
ORPHA:340 |
Autosomal Dominant Cerebellar Ataxia |
|
Retinal degeneration, Macular degeneration, Pigmentary retinopathy |
ORPHA:99 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Abnormal autonomic nervous system physiology, Macular degeneration, Cerebellar cortical atrophy, ... |
ORPHA:247234 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide con... |
ORPHA:157215 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Hypophosphatemic rickets, Right atrial enlargement |
OMIM:614473 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Optic atrophy, Cerebral atrophy, Neurofibrillary tangles, Cerebellar atrophy, Neurodegeneration |
OMIM:610217 |
Papillorenal Syndrome |
|
Morning glory anomaly, Macular degeneration, Chorioretinal atrophy, Macular hyperpigmentation, Re... |
OMIM:120330 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypophosphatemia, Hypercalcemia, Hepatomegaly, Splenomegaly |
OMIM:239200 |
Mulibrey Nanism |
|
Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis |
OMIM:253250 |
Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Cardiomegaly, Ventricular septal defect, Atrial septal defect |
OMIM:618652 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation |
ORPHA:96 |
Spinocerebellar Ataxia Type 7 |
|
Cone/cone-rod dystrophy, Macular degeneration, Abnormal fundus morphology, Cerebral atrophy, Cere... |
ORPHA:94147 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241530 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor, Abnormality of visual evoked potentials |
OMIM:617523 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Abnormality of visual evoked potent... |
OMIM:601152 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Hepatomegaly, Hypouricemia |
OMIM:616026 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Hyperammonemia, Hepatomegaly, Cardiomegaly, D... |
ORPHA:42 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Ventricular septal hypertrophy,... |
OMIM:115197 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Decreased plasma carnitine, Elevated circulating creatine kinase concentration, Hypertrophic card... |
OMIM:201475 |
Mepan Syndrome |
|
Cerebellar atrophy, Cerebral atrophy, Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:508093 |
Cirrhotic Cardiomyopathy |
|
Abnormal circulating A-type atrial natriuretic peptide concentration, Left ventricular hypertroph... |
ORPHA:57777 |
Kniest Dysplasia |
|
Lattice retinal degeneration, Rhegmatogenous retinal detachment, Vitreoretinopathy, Degenerative ... |
ORPHA:485 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Optic atrophy, Retinal degeneration, Cerebral atrophy, Atrophy of the spinal cord, Macular colobo... |
ORPHA:79282 |
Hurler Syndrome |
|
Retinal degeneration, Neurodegeneration |
OMIM:607014 |
Alzheimer Disease 9, Susceptibility To |
|
Cerebral cortical atrophy, Senile plaques, Neurofibrillary tangles, Hippocampal atrophy |
OMIM:608907 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:264700 |
Knobloch Syndrome |
|
Retinal detachment, Macular degeneration, Abnormal vitreous humor morphology, Vitreoretinopathy |
ORPHA:1571 |
Cystinosis |
|
Hypokalemia, Hypophosphatemia |
ORPHA:213 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:307800 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:2971 |
Cancer-Associated Retinopathy |
|
Retinal pigment epithelial atrophy, Foveal hyporeflective spaces on macular OCT, Optic atrophy, V... |
ORPHA:71505 |
Fanconi-Bickel Syndrome |
|
Hypokalemia, Hypophosphatemia, Hypouricemia |
OMIM:227810 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:280651 |
Coronary Arterial Fistula |
|
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... |
ORPHA:2041 |
Neuraminidase Deficiency |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy |
OMIM:256550 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Brain atrophy, Optic atrophy, Abnormality of visual evoked potentials, Cerebral atrophy, Cerebell... |
OMIM:616875 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:94059 |
Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly |
OMIM:252920 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Global brain atrophy, Optic atrophy, Retinal degeneration, Cerebral degeneration, Neurodegenerati... |
OMIM:234200 |
Mohr-Tranebjaerg Syndrome |
|
Global brain atrophy, Abnormality of somatosensory evoked potentials, Optic atrophy, Absent brain... |
ORPHA:52368 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemia, Mildly elevated creatine kinase, Elevated circulating creatine kinase concentra... |
OMIM:619743 |
Oculocutaneous Albinism Type 1A |
|
Abnormal optic nerve morphology, Hypoplasia of the fovea, Abnormality of visual evoked potentials... |
ORPHA:79431 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Retinal degeneration |
OMIM:618479 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:1389 |
Cantu Syndrome |
|
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve |
OMIM:239850 |
Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Senile plaques, Neurofibrillary tangles |
DECIPHER:48 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypophosphatemia, Hypocalcemic seizures |
OMIM:277440 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Senile plaques, Neurofibrillary tangles |
OMIM:605055 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic atrophy, Retinal atrophy, Optic nerve hypoplasia, Retinal dysplasia, Retinal detachment |
OMIM:236670 |
Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Hypertriglyceridemia, Hepatomegaly |
ORPHA:2088 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Decreased nerve conduction velocity, Cerebellar atrophy, Optic disc pallor, Abnorm... |
ORPHA:485421 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Abnormality of iron homeostasis, Elevated transferrin saturation, Increased circulating ferritin ... |
ORPHA:465508 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... |
ORPHA:439 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:300554 |
Trichothiodystrophy |
|
Retinal degeneration, Macular degeneration, Cerebral cortical atrophy, Diffuse cerebellar atrophy |
ORPHA:33364 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
Hereditary Fructose Intolerance |
|
Hypophosphatemia, Hyperuricemia, Hepatomegaly, Hypermagnesemia |
ORPHA:469 |
Aorta Coarctation |
|
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... |
ORPHA:1457 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Retinal degeneration |
OMIM:208500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hypoplasia of the retina, Optic atrophy, Retinal atrophy, Retinal degeneration, Retinal dysplasia |
OMIM:253280 |
Cockayne Syndrome Type 3 |
|
Retinal hemorrhage, Abnormality of peripheral nerve conduction, Brain atrophy, Retinal atrophy, R... |
ORPHA:90324 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Abnormality of visual evoked potentials |
ORPHA:1933 |
Pelizaeus-Merzbacher Disease |
|
Cerebral cortical atrophy, Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:702 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:289157 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Corpus callosum atrophy, Optic atrophy, Diffuse cerebellar atrophy, Cerebral atrophy, Abnormality... |
ORPHA:480898 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Abnormal autonomic nervous system physiology, Cerebral cortical atrophy, Neurofibrillary tangles |
OMIM:616840 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve pro... |
ORPHA:324410 |
Cln5 Disease |
|
Cerebral cortical atrophy, Abnormality of visual evoked potentials, Atrophy/Degeneration affectin... |
ORPHA:228360 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Hepatomegaly, Cardiomegaly, Aortic valve calcification, Mitral val... |
OMIM:231005 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Hypophosphatemic rickets, Dilated cardiomyopathy |
OMIM:208000 |
Mucopolysaccharidosis Type 2 |
|
Retinopathy, Abnormal foveal morphology, Optic atrophy, Retinal degeneration, Abnormality of reti... |
ORPHA:580 |
Gaucher Disease, Type I |
|
Macular atrophy |
OMIM:230800 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials |
OMIM:125310 |
Mucopolysaccharidosis Type 3 |
|
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Central nervous system degeneration, Pig... |
ORPHA:581 |
Micro Syndrome |
|
Cerebral cortical atrophy, Optic atrophy, Abnormality of retinal pigmentation, Abnormality of vis... |
ORPHA:2510 |
Progressive Non-Fluent Aphasia |
|
Frontotemporal cerebral atrophy, Abnormal lower motor neuron morphology, Neurofibrillary tangles,... |
ORPHA:100070 |
Danon Disease |
|
Dilated cardiomyopathy, Myocardial fibrosis, Elevated circulating creatine kinase concentration, ... |
OMIM:300257 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Increased circulating ferritin concentration |
OMIM:618886 |
Infantile Neuroaxonal Dystrophy |
|
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormal autonomic nervous system phys... |
ORPHA:35069 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology |
ORPHA:791 |
Juvenile Nephropathic Cystinosis |
|
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine... |
ORPHA:411634 |
Cockayne Syndrome |
|
Retinal hemorrhage, Retinal arteriolar constriction, Optic atrophy, Retinal atrophy, Retinal dege... |
ORPHA:191 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Abnormality of visual evoked potentials, Brain atrophy |
OMIM:614457 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Cardiomegaly, Decreased plasma free carnitine, Enlarged kidney, Elevat... |
OMIM:608836 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Hepatomegaly, Right atrial isomerism,... |
OMIM:306955 |
Friedreich Ataxia |
|
Decreased sensory nerve conduction velocity, Decreased amplitude of sensory action potentials, Ab... |
OMIM:229300 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Abnormality of visual evoked potentials |
ORPHA:314389 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:255249 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomyopathy, Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine... |
ORPHA:228308 |
Farber Disease |
|
Macular degeneration, Brain atrophy, Cherry red spot of the macula |
ORPHA:333 |
Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
Pearson Syndrome |
|
Hyperalaninemia, Hypokalemia, Hypophosphatemia, Abnormal heart morphology, Hepatomegaly, Hypocalc... |
ORPHA:699 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect |
OMIM:616897 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Craniofaciofrontodigital Syndrome |
|
Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Atrial septal defect, Aor... |
ORPHA:363705 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Abnormality of visual evok... |
OMIM:231550 |
Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
Alport Syndrome |
|
Retinal flecks, Macular degeneration |
ORPHA:63 |
Cockayne Syndrome A |
|
Optic atrophy, Retinal atrophy, Abnormal auditory evoked potentials, Retinal pigment epithelial m... |
OMIM:216400 |
Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Complete atrioventricular can... |
ORPHA:1329 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypophosphatemia, Abnormal pulmonary valve morphology, Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:667 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Hypophosphatemia, Decreased plasma carnitine, Hypokalemia, Hypophosp... |
OMIM:219800 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Hypertrophic ca... |
ORPHA:308552 |
Infantile Nephropathic Cystinosis |
|
Hypokalemia, Hypophosphatemia, Abnormal blood ion concentration |
ORPHA:411629 |
Glycogen Storage Disease Ii |
|
Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase concentration... |
OMIM:232300 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Hypophosphatemic rickets, Bicarbonatur... |
ORPHA:3337 |
Infantile Krabbe Disease |
|
Optic atrophy, Diffuse cerebral atrophy, Decreased nerve conduction velocity, Prolonged brainstem... |
ORPHA:206436 |
Osteopetrosis With Renal Tubular Acidosis |
|
Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atrophy |
ORPHA:2785 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Abnormality ... |
ORPHA:206443 |
Alport Syndrome 3, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
Bohring-Opitz Syndrome |
|
Retinal atrophy, Optic atrophy |
ORPHA:97297 |
Alzheimer Disease 2 |
|
Neurofibrillary tangles |
OMIM:104310 |
Say-Barber-Miller Syndrome |
|
Macular degeneration, Rod-cone dystrophy, Optic atrophy |
ORPHA:3132 |
Alzheimer Disease, Familial, 1 |
|
Neurofibrillary tangles |
OMIM:104300 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:309263 |
Xq21 Microdeletion Syndrome |
|
Optic atrophy, Choroideremia, Abnormal chorioretinal morphology, Chorioretinal degeneration, Reti... |
ORPHA:1435 |
Fibrous Dysplasia Of Bone |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:249 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy, Elevated circulating creatine kinase concentration |
ORPHA:268 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... |
ORPHA:79102 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Dilated cardiomyopathy, Elevated circulating creatine kinase concentra... |
OMIM:614921 |
Mogs-Cdg |
|
Left ventricular hypertrophy, Atrial septal defect, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:79330 |
Familial Hypocalciuric Hypercalcemia |
|
Hypocalcemic seizures, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:405 |
Mccune-Albright Syndrome |
|
Hypophosphatemia |
ORPHA:562 |
Fucosidosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:349 |
Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
Fructose Intolerance, Hereditary |
|
Hyperuricemia, Hypophosphatemia, Hyperbilirubinemia, Hepatomegaly, Bicarbonaturia |
OMIM:229600 |
Alzheimer Disease 3 |
|
Cerebral cortical atrophy, Neurofibrillary tangles |
OMIM:607822 |
Sandhoff Disease |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:268800 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pericardial effusion, Enlarged kidney, Hypertrophic cardiomyopathy, Biventricular hypertrophy, In... |
OMIM:261740 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
CantĂș Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
Gaucher Disease, Perinatal Lethal |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:608013 |
White-Sutton Syndrome |
|
Rod-cone dystrophy, Abnormality of visual evoked potentials, Cerebral atrophy, Optic nerve hypopl... |
OMIM:616364 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrophy,... |
OMIM:245600 |
Sickle Cell Disease |
|
Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:603903 |
Ruvalcaba Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:3121 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neuronal loss in central nervous system, Cerebral cortical atrophy, Neurofibrillary tangles |
OMIM:607485 |
Abetalipoproteinemia |
|
Decreased LDL cholesterol concentration, Hyperbilirubinemia, Abnormal circulating apolipoprotein ... |
ORPHA:14 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse, Atrial septal defect, Hepato... |
OMIM:602782 |
Metachromatic Leukodystrophy, Adult Form |
|
Orthostatic hypotension due to autonomic dysfunction, Decreased nerve conduction velocity, Abnorm... |
ORPHA:309271 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia |
ORPHA:534 |
Atypical Werner Syndrome |
|
Retinal degeneration, Abnormality of retinal pigmentation |
ORPHA:79474 |
Fucosidosis |
|
Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:230000 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Retinal dystrophy, Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:266920 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Cerebral cortical atrophy, Neurofibrillary tangles |
ORPHA:1020 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Neurofibrillary tangles |
OMIM:606688 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par... |
ORPHA:95430 |
Parathyroid Carcinoma |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
|