Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Leber Congenital Amaurosis 13 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:612712 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia |
ORPHA:1852 |
Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Myocardial infarction, Decreased HDL cholesterol concentration |
OMIM:108725 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:615990 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy |
OMIM:613582 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613809 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:236130 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Myocardial infarction, Hypertension, Hypercholesterolemia |
OMIM:608320 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... |
OMIM:193235 |
Retinitis Pigmentosa 69 |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:615780 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... |
OMIM:305390 |
Persistent Placoid Maculopathy |
|
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... |
ORPHA:97341 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Choroideremia |
|
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... |
OMIM:303100 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... |
OMIM:607921 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Retinitis Pigmentosa 47 |
|
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613758 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... |
OMIM:618889 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... |
OMIM:133780 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
Central Areolar Choroidal Dystrophy |
|
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... |
ORPHA:75377 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... |
ORPHA:891 |
Retinal Venous Beading |
|
Saccular conjunctival dilatations, Vitreous hemorrhage, Retinal neovascularization, Retinal infar... |
OMIM:180080 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Retinitis Pigmentosa 54 |
|
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... |
OMIM:613428 |
Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
Retinitis Pigmentosa 48 |
|
Rod-cone dystrophy, Macular degeneration |
OMIM:613827 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:614180 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Macular Degeneration, Age-Related, 13 |
|
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:615439 |
Exudative Vitreoretinopathy 7 |
|
Retinal degeneration, Vitreoretinopathy, Retinal hole |
OMIM:617572 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613801 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:618697 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Eales Disease |
|
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... |
ORPHA:40923 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Macular Dystrophy, Patterned, 3 |
|
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Retinitis Pigmentosa 76 |
|
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... |
OMIM:617123 |
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 |
Cone-Rod Dystrophy 5 |
|
Macular degeneration |
OMIM:600977 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebral atrophy, Retinopathy, Neurodegeneration, Pigmentary retinopathy, Optic atrophy, Cerebell... |
OMIM:610951 |
Retinitis Pigmentosa 28 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy |
OMIM:606068 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Retinopathy, Corticospinal tract atrophy, Rod-cone dystrophy |
OMIM:551500 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... |
OMIM:193220 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
Retinitis Pigmentosa 7 |
|
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... |
OMIM:608133 |
Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... |
OMIM:600138 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Sudden cardiac death, Hypertriglyceridemia, Myocardial infarction, Hypercholester... |
OMIM:610947 |
Alopecia Areata 2 |
|
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp |
OMIM:610753 |
Retinitis Pigmentosa 90 |
|
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... |
OMIM:619007 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy |
OMIM:180104 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Retinitis Pigmentosa 88 |
|
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... |
OMIM:618826 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen |
OMIM:136550 |
Retinitis Pigmentosa 31 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy |
OMIM:609923 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:611131 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes |
ORPHA:55654 |
Retinitis Pigmentosa 6 |
|
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:312612 |
Alopecia Universalis Congenita |
|
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair |
OMIM:203655 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
Macular Degeneration, X-Linked Atrophic |
|
Macular degeneration |
OMIM:300834 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate |
OMIM:605750 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Hypotrichosis 5 |
|
Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair |
OMIM:612841 |
Stargardt Disease |
|
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... |
ORPHA:827 |
Hypotrichosis 4 |
|
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair |
OMIM:146550 |
Retinitis Pigmentosa 4 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613731 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Abnormal retinal vascular morphology, Abnormal macular morphology, Tractiona... |
ORPHA:90050 |
Alopecia Areata 1 |
|
Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits |
OMIM:104000 |
Retinitis Pigmentosa 29 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:612165 |
Cone-Rod Dystrophy 22 |
|
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... |
OMIM:619531 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Cerebral atrophy, Retinal detachment, Retinal dystrophy, Opt... |
OMIM:251270 |
Bothnia Retinal Dystrophy |
|
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... |
ORPHA:85128 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Retinitis Pigmentosa 19 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:601718 |
Retinal Cone Dystrophy 4 |
|
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
|
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy |
OMIM:304030 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... |
OMIM:618144 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar vermis atrophy, Retinal pigment epithelial mottling, Corpus callosum atrophy, Optic di... |
OMIM:619389 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... |
OMIM:304020 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Alopecia Universalis |
|
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia |
ORPHA:701 |
Hypotrichosis 11 |
|
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... |
OMIM:615059 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Pulmonic stenosis, Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment |
OMIM:614224 |
Retinitis Pigmentosa 86 |
|
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... |
OMIM:618613 |
Morning Glory Disc Anomaly |
|
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma |
ORPHA:35737 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration, Increased neuronal autofluorescent lipopigment |
OMIM:601780 |
Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... |
OMIM:136120 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Retinal dysplasia |
OMIM:615771 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy |
OMIM:613767 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Myocardial infa... |
OMIM:615703 |
Bietti Crystalline Dystrophy |
|
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... |
ORPHA:41751 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration |
OMIM:617879 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy |
OMIM:600790 |
Achromatopsia |
|
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... |
ORPHA:49382 |
Retinitis Pigmentosa 13 |
|
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus |
OMIM:600059 |
Retinitis Pigmentosa 1 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:180100 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Cerebral atrophy, Pigmentary retinopathy, Cerebellar atrophy |
OMIM:619090 |
Cone-Rod Dystrophy 3 |
|
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... |
OMIM:604116 |
Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Rod-cone dystrophy |
OMIM:268010 |
Hepatic Lipase Deficiency |
|
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair |
ORPHA:505 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... |
OMIM:611040 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:612572 |
Retinitis Pigmentosa 41 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... |
OMIM:612095 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Facial palsy, Abnormality of retinal pigmentation |
ORPHA:2743 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
Leber Congenital Amaurosis 2 |
|
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... |
OMIM:204100 |
Retinal Cone Dystrophy 1 |
|
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:180020 |
Congenital Stationary Night Blindness |
|
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... |
ORPHA:215 |
Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
Leber Congenital Amaurosis 8 |
|
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... |
OMIM:613835 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia |
OMIM:614928 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy |
OMIM:605670 |
Retinitis Pigmentosa 12 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:600105 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Abnormal fingernai... |
ORPHA:2722 |
Retinitis Pigmentosa 71 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Attenuation of retinal blood vessel... |
OMIM:616394 |
Retinitis Pigmentosa 49 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:613756 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Arrhythmia, Increased L... |
OMIM:616516 |
Bornholm Eye Disease |
|
Optic nerve hypoplasia, Abnormality of retinal pigmentation |
OMIM:300843 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment |
OMIM:147610 |
Retinitis Pigmentosa 58 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:613617 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy |
OMIM:245800 |
Retinitis Pigmentosa 83 |
|
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... |
OMIM:618173 |
Exudative Vitreoretinopathy 6 |
|
Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... |
OMIM:616468 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Retinal degeneration |
OMIM:275400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
Cone-Rod Dystrophy 11 |
|
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Cone/cone-rod dystrophy |
OMIM:610381 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... |
OMIM:145350 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Macular Degeneration, Age-Related, 1 |
|
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... |
OMIM:603075 |
Coats Disease |
|
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Retinal detachment, Abnormal retinal... |
ORPHA:190 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy |
OMIM:613862 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... |
OMIM:613194 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Leber Congenital Amaurosis 9 |
|
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... |
OMIM:608553 |
Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... |
OMIM:180105 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma |
ORPHA:2196 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:616562 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Alopecia universalis, Congenital alopecia totalis |
OMIM:104130 |
Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:615725 |
Retinitis Pigmentosa 43 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall... |
OMIM:613810 |
Retinitis Pigmentosa 2 |
|
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Chorioretinal degeneration, Bull's ey... |
OMIM:312600 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Cone-Rod Dystrophy 8 |
|
Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Cone/... |
OMIM:605549 |
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia, Sparse body hair, Onychogryposis of toenails, Dystrophic toenail, Alopecia of scalp |
OMIM:617294 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... |
ORPHA:79435 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Retinal degeneration, Increased... |
OMIM:204500 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:613464 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Retinal nonattachment, Iris hypopigmentation, Choroideremia, Vitelliform-like macular lesions |
ORPHA:99000 |
Exudative Vitreoretinopathy 5 |
|
Exudative vitreoretinopathy, Retinal exudate, Tractional retinal detachment |
OMIM:613310 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
Retinitis Pigmentosa 56 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... |
OMIM:613581 |
Retinitis Pigmentosa 25 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic disc pallo... |
OMIM:602772 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Cerebral atrophy |
ORPHA:397951 |
Cerebellar Ataxia And Ectodermal Dysplasia |
|
Sparse hair, Alopecia |
OMIM:212835 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy |
ORPHA:3156 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Pigmentary retinopathy, Macular degeneration |
OMIM:164500 |
Parc Syndrome |
|
Absent eyebrow, Absent eyelashes, Alopecia |
OMIM:600331 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... |
ORPHA:3361 |
Cone-Rod Dystrophy 10 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:610283 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Iris coloboma, Macular atrophy, Chorioretinal coloboma |
OMIM:212550 |
Leber Congenital Amaurosis 1 |
|
Optic disc drusen, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy |
OMIM:204000 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Retinal degeneration, Bradycardia |
OMIM:617173 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:608380 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... |
OMIM:602032 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:300029 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Nail pits, Congenital alopecia totalis, Ridged nail |
ORPHA:169095 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Mental Retardation Syndrome 1 |
|
Alopecia universalis |
OMIM:203650 |
Irvan Syndrome |
|
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... |
ORPHA:209943 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Iris coloboma, Abnormality of retinal pigmentation |
ORPHA:1259 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Rod-cone dystrophy, Macular atrophy |
OMIM:618220 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1433 |
Neovascular Glaucoma |
|
Abnormal posterior eye segment morphology, Retinal vascular proliferation, Retinal detachment, Ab... |
ORPHA:94058 |
Retinitis Pigmentosa 44 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613769 |
Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Pigmentary retinopathy |
OMIM:268050 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal flecks, Retinal pigment epithelial atrophy |
OMIM:611809 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:600151 |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Optically empty vitreous, Rhegmatogenous retinal detachment |
OMIM:609508 |
Retinitis Pigmentosa 14 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Leber Congenital Amaurosis 15 |
|
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor |
OMIM:613843 |
Hyperlysinemia, Type I |
|
Hyperactivity, Cognitive impairment |
OMIM:238700 |
Cataract 21, Multiple Types |
|
Iris coloboma, Retinal detachment, Macular hypoplasia |
OMIM:610202 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Lattice retinal degeneration, Rhegmatogenous retinal detachment |
OMIM:619248 |
Enhanced S-Cone Syndrome |
|
Retinoschisis, Macular edema, Pigmentary retinopathy, Vitreoretinopathy |
OMIM:268100 |
Narp Syndrome |
|
Cerebral cortical atrophy, Rod-cone dystrophy, Retinal pigment epithelial mottling, Optic disc pa... |
ORPHA:644 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Abnormal retinal vascular morphology, Raynaud phenomenon, Hypertension, Macular edema, Retinal ne... |
ORPHA:247691 |
Retinitis Pigmentosa 20 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613794 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Retinal detachment |
ORPHA:436182 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Retinal detachment |
ORPHA:171844 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:264470 |
Sjögren-Larsson Syndrome |
|
Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera... |
ORPHA:816 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Cofs Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy |
ORPHA:1466 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Retinal vascular malformation |
OMIM:116860 |
Retinitis Pigmentosa 72 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigment... |
OMIM:616469 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:144600 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Peripapillary atrophy, Retinal dystrophy, Retinal pigment epithelial atrophy |
OMIM:616188 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Heterochromia iridis |
ORPHA:1390 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypo... |
ORPHA:79434 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... |
ORPHA:897 |
Cone-Rod Dystrophy 15 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy |
OMIM:613660 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Woolly scalp hair, Woolly hair, Alopecia |
OMIM:601217 |
Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Retinal degeneration |
OMIM:311000 |
Retinitis Pigmentosa 66 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy |
OMIM:615233 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Leber Congenital Amaurosis 4 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy |
OMIM:604393 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... |
OMIM:616000 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Peripheral retinal atrophy, Absent foveal reflex, Iris coloboma, Retinal dystrophy |
OMIM:615147 |
Stickler Syndrome Type 2 |
|
Retinopathy, Retinal detachment, Abnormal vitreous humor morphology |
ORPHA:90654 |
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Rod-cone dystrophy, Absent retinal pigment epithelium, Attenuation of retinal blood vessels, Abno... |
ORPHA:436274 |
Canavan Disease |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:141 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degene... |
OMIM:618195 |
Stickler Syndrome, Type V |
|
Retinal detachment, Vitreoretinopathy |
OMIM:614284 |
Retinitis Pigmentosa 73 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:616544 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Peripheral vitreoretinal degeneration |
OMIM:614292 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
Cone-Rod Dystrophy 2 |
|
Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial atrophy, Macular hyper... |
OMIM:120970 |
Retinitis Punctata Albescens |
|
Absent foveal reflex, Cystoid macular edema, Abnormality of fundus pigmentation, Retinal pigment ... |
ORPHA:52427 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hypertension |
ORPHA:71529 |
Ramon Syndrome |
|
Telangiectasia of the skin, Abnormality of retinal pigmentation |
ORPHA:3019 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Persistent pupillary membrane |
OMIM:225200 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Hyperactivity, Irritability |
OMIM:616657 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:614307 |
Immunodeficiency 8 |
|
Hyperactivity, Lymphopenia |
OMIM:615401 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hyperpigmented nevi, Blue irides, Heterochromia iridis, Hypo... |
ORPHA:79432 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy |
OMIM:219900 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Palpitations, Hypercholesterolemia |
ORPHA:488650 |
Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
Microspherophakia With Hernia |
|
Retinal detachment |
OMIM:157150 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
Exudative Vitreoretinopathy 4 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... |
OMIM:601813 |
Angioma Serpiginosum |
|
Retinal vascular malformation |
ORPHA:95429 |
Retinitis Pigmentosa |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:791 |
Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Cardiomyopathy |
OMIM:610717 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Sparse or absent eye... |
ORPHA:444 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia universalis, Abnormal eyelash morphology, Sparse body hair |
ORPHA:1008 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Retinal dysplasia |
OMIM:614830 |
Monilethrix |
|
Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Nail dystrophy |
OMIM:158000 |
Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate |
OMIM:264420 |
Juvenile Paget Disease |
|
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus |
ORPHA:2801 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... |
ORPHA:364055 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1173 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decreased HDL cholesterol conce... |
OMIM:618620 |
Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Retinal degeneration, Macular atrophy |
OMIM:267760 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Nail pits, Ridged nail, Nail dystrophy, Alopecia |
OMIM:601705 |
Pili Torti |
|
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn... |
ORPHA:2889 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
8p23.1 deletion syndrome |
|
Hyperactivity, Atrial septal defect, Atrioventricular canal defect, Cryptorchidism, Abnormal hear... |
DECIPHER:39 |
Acute Zonal Occult Outer Retinopathy |
|
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... |
ORPHA:284454 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
Hypobetalipoproteinemia, Familial, 1 |
|
Retinal degeneration, Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia,... |
OMIM:615558 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Cerebellar atrophy |
OMIM:613402 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Retinal dysplasia |
OMIM:613154 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Absent foveal reflex, Abnormality of macular pigmentation, Retinal detachment, Cone/cone-rod dyst... |
OMIM:300476 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
Cone-Rod Dystrophy 6 |
|
Chorioretinal atrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atr... |
OMIM:601777 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1496 |
Crandall Syndrome |
|
Pili torti, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair |
ORPHA:202 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Cerebellar dysplasia, Cerebellar hypoplasia |
OMIM:604213 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Retinitis Pigmentosa 77 |
|
Retinal atrophy, Cystoid macular edema, Rod-cone dystrophy |
OMIM:617304 |
Coats Disease |
|
Retinal telangiectasia, Leukocoria, Exudative retinal detachment |
OMIM:300216 |
Kerion Celsi |
|
Alopecia |
ORPHA:499 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Retinopathy, Chorioretinal atrophy, Abnormality of retinal pigmentation, Abnormal chorioretinal m... |
ORPHA:5 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Nail dystrophy, Alopecia |
OMIM:616487 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Brain atrophy, Pigmentary retinopathy |
OMIM:619059 |
Glycine Encephalopathy |
|
Hyperactivity, Impulsivity, Irritability, Aggressive behavior, Lethargy |
OMIM:605899 |
Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:44 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation |
ORPHA:858 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
Hanac Syndrome |
|
Retinal vascular tortuosity |
ORPHA:73229 |
Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy |
OMIM:619473 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Cerebellar atrophy, Cerebral atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:268020 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Decreased sensory nerve conduction velocity, Rod-cone dystrophy, Attenuation of retinal blood ves... |
OMIM:609033 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Cerebellar atrophy |
OMIM:609924 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Cerebellar atrophy |
ORPHA:3085 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Facial palsy, Cerebral cortical atrophy, Pigmentary retinopathy |
ORPHA:370968 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... |
OMIM:619868 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal degenerati... |
OMIM:615986 |
Bardet-Biedl Syndrome 2 |
|
Dilated cardiomyopathy, Retinal degeneration, Rod-cone dystrophy |
OMIM:615981 |
Deafness-Craniofacial Syndrome |
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Alopecia |
OMIM:125230 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
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Hypertriglyceridemia |
OMIM:615924 |
Chromosome 16Q12 Duplication Syndrome |
|
Retinal pigment epithelial mottling, Temporal optic disc pallor, Anisocoria |
OMIM:619649 |
Leigh Syndrome With Leukodystrophy |
|
Optic atrophy, Pigmentary retinopathy |
ORPHA:255241 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy |
ORPHA:2518 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling |
OMIM:619517 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Hypertension |
OMIM:613877 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks |
ORPHA:100996 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Desmoid Tumor |
|
Abnormality of retinal pigmentation |
ORPHA:873 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Chorioretinal atrophy, Retinal degeneration |
OMIM:210370 |
Niemann-Pick Disease, Type B |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:607616 |
Ectodermal Dysplasia 7, Hair/Nail Type |
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Sparse scalp hair, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland... |
OMIM:614929 |
Mucolipidosis Type Iv |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:578 |
Flynn-Aird Syndrome |
|
Alopecia of scalp, Rod-cone dystrophy, Alopecia |
OMIM:136300 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia |
OMIM:617113 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Numerous congenital melanocytic nevi, Generalized hyperpigme... |
ORPHA:2481 |
Nephronophthisis 15 |
|
Retinal degeneration |
OMIM:614845 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hypertension |
ORPHA:280356 |
Clouston Syndrome |
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Nail dysplasia, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Absent pubic hair, Alop... |
OMIM:129500 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
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Abnormal atrioventricular conduction, Cardiomyopathy, Pigmentary retinopathy |
ORPHA:329336 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
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Pili torti, Hypoplastic toenails, Sparse scalp hair, Patchy alopecia, Sparse eyelashes, Alopecia,... |
OMIM:613573 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Fine hair, Abnormal toenail morphology, Abnormal hair m... |
ORPHA:248 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:252011 |
Zika Virus Disease |
|
Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Iris coloboma, ... |
ORPHA:448237 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Cerebral cortical atrophy, Pigmentary retinopathy |
OMIM:613156 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Congenital Primary Aphakia |
|
Retinal dysplasia |
ORPHA:83461 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Arrhythmia, Hypertrophic cardiomyopathy |
ORPHA:96 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Shuffling gait, Aggressi... |
ORPHA:3077 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
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Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:604317 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Rod-cone dystrophy, Alopecia |
OMIM:617763 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Myocardial infarction, Hypertension, Hypercholesterolemia |
OMIM:615812 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Retinal coloboma, Macular coloboma, Facial palsy |
OMIM:107550 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy |
OMIM:616722 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... |
OMIM:207750 |
Chromosome Xp11.3 Deletion Syndrome |
|
Optic atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:300578 |
Monilethrix |
|
Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Abnormal eyelash morphol... |
ORPHA:573 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:216866 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia, Hypertension |
OMIM:608600 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Sparse hair, Alopecia, Onychogryposis of fingernail, Fingernail dysplasia, Ridged fingernail |
ORPHA:2251 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Retinal degeneration |
OMIM:616896 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Hypoplastic toenails, Toenail dysplasia, Alopecia, Fingernail dysplasia, Abnor... |
ORPHA:2325 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:268315 |
Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Retinal dysplasia |
ORPHA:324416 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Hypertension, Increased C-peptide level |
OMIM:615238 |
Pili Torti-Onychodysplasia Syndrome |
|
Alopecia universalis, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Congenital onycho... |
ORPHA:2890 |
Porphyria Cutanea Tarda |
|
Onycholysis, Facial hypertrichosis, Alopecia |
OMIM:176100 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia |
OMIM:617885 |
Joubert Syndrome 8 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:612291 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior, Micropenis |
ORPHA:75858 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebral atrophy, Retinal degeneration, Pigmentary retinopathy, Optic disc pallor, Cerebellar atr... |
ORPHA:79264 |
Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation |
OMIM:108145 |
Quinquaud Folliculitis Decalvans |
|
Scarring alopecia of scalp, Abnormal hair morphology, Patchy alopecia |
ORPHA:346 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Cerebral cortical atrophy, Abnormal macular morphology, Hypo... |
ORPHA:1493 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... |
OMIM:616828 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Bradykinesia, Depression,... |
ORPHA:248111 |
Leigh Syndrome |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:256000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
Bardet-Biedl Syndrome 17 |
|
Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule ... |
OMIM:615994 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior |
OMIM:619970 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:290 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Alopecia, Dystrophic toenail, Fine hair, Dystrophic fingernails |
ORPHA:1882 |
Hyperprolinemia, Type I |
|
Ataxia, Hyperactivity, Aggressive behavior |
OMIM:239500 |
Birdshot Chorioretinopathy |
|
Vitritis, Abnormal chorioretinal morphology, Retinal pigment epithelial atrophy |
OMIM:605808 |
Moynahan Syndrome |
|
Sparse hair, Alopecia |
ORPHA:2574 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Optic atrophy, Retinal degeneration |
OMIM:214980 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Hypopigmented skin patches, Abnormal retinal ... |
ORPHA:2715 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia, Retinal detachment, Leukocoria |
OMIM:219250 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Rod-cone dystrophy, Axonal degeneration, Pigmentary retinopathy, Bone spicule pigmentation of the... |
ORPHA:88628 |
Joubert Syndrome 3 |
|
Pigmentary retinopathy, Retinal dystrophy |
OMIM:608629 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, Abnormal... |
ORPHA:129 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:309548 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
Phenylketonuria |
|
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... |
OMIM:261600 |
Antiphospholipid Syndrome, Familial |
|
Iritis, Retinal detachment, Retinal vasculitis, Central retinal artery occlusion, Vitritis |
OMIM:107320 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia |
OMIM:614564 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior |
ORPHA:100973 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Splenomegaly, Aggressive behavior, Asymmetric septal hypertrophy, Ca... |
OMIM:252920 |
Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1824 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia |
ORPHA:181393 |
Björnstad Syndrome |
|
Brittle hair, Alopecia |
ORPHA:123 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Nail dysplasia, Leukonychia, Sparse hair, Brittle hair, Alopecia, Sparse eyebrow |
OMIM:104100 |
Abetalipoproteinemia |
|
Retinopathy, Retinal degeneration |
OMIM:200100 |
Bjornstad Syndrome |
|
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... |
OMIM:262000 |
Chromosome 3Q29 Deletion Syndrome |
|
Anxiety, Hyperactivity, Aggressive behavior, Gait ataxia |
OMIM:609425 |
Lennox-Gastaut Syndrome |
|
Personality disorder, Hyperactivity, Aggressive behavior, Falls |
ORPHA:2382 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Hyperactivity, Bradykinesia, Inappropriate behavior, Self-biting, Nail-b... |
OMIM:619827 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Pulmonary embolism, Hypertriglyceridemia, Hypoalbuminem... |
ORPHA:567548 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Cerebellar atrophy |
OMIM:618090 |
Uveal Melanoma |
|
Vitreous hemorrhage, Iris melanoma, Ciliary body melanoma, Retinal detachment, Mydriasis, Abnorma... |
ORPHA:39044 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
ST segment depression, Cerebral hemorrhage, Cerebral ischemia, Syncope, Prolonged QTc interval, M... |
ORPHA:90065 |
Landau-Kleffner Syndrome |
|
Impulsivity, Hyperactivity, Depression, Anxiety, Gait ataxia, Attention deficit hyperactivity dis... |
ORPHA:98818 |
Cortisone Reductase Deficiency 1 |
|
Hirsutism, Alopecia |
OMIM:604931 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2163 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Mottled pigmentation of photoexposed areas, Pigmentary retinopathy |
OMIM:560000 |
Microphthalmia, Isolated 8 |
|