Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy, Retinal degeneration |
OMIM:257970 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Retinal arteriolar constric... |
OMIM:249660 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Peripartum Cardiomyopathy |
|
Myocarditis, Reduced left ventricular ejection fraction, Respiratory failure, Paroxysmal dyspnea,... |
ORPHA:563 |
Bardet-Biedl Syndrome 16 |
|
Stage 5 chronic kidney disease, Hypogonadism, Renal cyst, Renal insufficiency, Short stature, Ret... |
OMIM:615993 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Extramedullary hematopoiesis, Ventric... |
OMIM:617021 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Podocyte foot process effacement, Minimal change glomeru... |
OMIM:619201 |
Nephrotic Syndrome, Type 17 |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Short stature, Focal segmenta... |
OMIM:618176 |
Oliver-Mcfarlane Syndrome |
|
Delayed puberty, Severe short stature, Central heterochromia, Distal amyotrophy, Pigmentary retin... |
OMIM:275400 |
Coronary Arterial Fistula |
|
Atrial septal defect, Bacterial endocarditis, Abnormal heart morphology, Angina pectoris, Patent ... |
ORPHA:2041 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrolithiasis, Focal ... |
OMIM:614650 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Short stature, Retinal degeneration, Bone... |
OMIM:618889 |
Macular Degeneration, Age-Related, 13 |
|
Macular degeneration, Choroidal neovascularization, Drusen, Macular scar |
OMIM:615439 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Nephrotic Syndrome, Type 3 |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrotic syndrome, Foc... |
OMIM:610725 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration |
OMIM:251700 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Macular degeneration, Distal lower li... |
OMIM:619764 |
Nephrotic Syndrome, Type 24 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Renal cortical hyperech... |
OMIM:619263 |
Nephrotic Syndrome, Type 18 |
|
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Stage 3 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... |
OMIM:301028 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:610599 |
Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
Focal Segmental Glomerulosclerosis 8 |
|
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:616032 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis, Focal segmental glomeruloscler... |
OMIM:615573 |
Cone-Rod Dystrophy 7 |
|
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:603649 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... |
OMIM:616002 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Drusen, Retinal dystrophy |
OMIM:267800 |
Homocarnosinosis |
|
Carnosinuria, Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Nephrotic Syndrome, Type 12 |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Familial Dilated Cardiomyopathy |
|
Dyspnea, Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ej... |
ORPHA:217607 |
Focal Segmental Glomerulosclerosis 10 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Minimal change glomerulonephrit... |
OMIM:256020 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Macular dystrophy, Drusen, Peripheral retinal atrophy |
OMIM:136550 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Chronic kidney disease, Nephrotic syndrome, Focal se... |
OMIM:603965 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration, Leukopenia, Anemia, Respiratory insufficiency, Pancreatitis, Renal insufficiency, Ca... |
ORPHA:27 |
Galloway-Mowat Syndrome 4 |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Hypermelanotic macule, ... |
OMIM:617730 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Macular Dystrophy, Patterned, 3 |
|
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization |
OMIM:617111 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ... |
ORPHA:59181 |
Nephronophthisis |
|
Renal insufficiency, Abnormality of retinal pigmentation |
ORPHA:655 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Nephrotic syndrome, Hematuria... |
OMIM:614131 |
Atrial Septal Defect, Sinus Venosus Type |
|
Stroke, Paradoxical splitting of the second heart sound, Tricuspid regurgitation, Supraventricula... |
ORPHA:99105 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Hypogonadism, Renal cyst, Retinal degeneration, Rod-cone dystrophy |
OMIM:615982 |
Primary Membranoproliferative Glomerulonephritis |
|
Microscopic hematuria, Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Chronic ... |
ORPHA:54370 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Retinal degeneration, Retinopathy, Chorioretinal ... |
OMIM:605670 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Glycosuria, Beta 2-microglobulinu... |
OMIM:308990 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Distal lower limb amyotrophy, Claw hand deformity, Proteinuria, Stage 5 chronic kidney disease, D... |
OMIM:614455 |
Nephrotic Syndrome, Type 21 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Podocyte foot process effac... |
OMIM:618594 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Choriocapillaris atrophy, Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:215500 |
Focal Segmental Glomerulosclerosis 5 |
|
Microscopic hematuria, Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney di... |
OMIM:613237 |
Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... |
OMIM:312700 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Stroke, Megaloblastic anemia, Ventricular septal defect, Atrial septal defect, Th... |
ORPHA:49827 |
Stargardt Disease 3 |
|
Macular atrophy, Macular dystrophy, Macular flecks |
OMIM:600110 |
Nephrotic Syndrome, Type 14 |
|
Proteinuria, Diffuse mesangial sclerosis, Micropenis, Stage 5 chronic kidney disease, Hypogonadis... |
OMIM:617575 |
Diamond-Blackfan Anemia 6 |
|
Tracheomalacia, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, Tetralogy ... |
OMIM:612561 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis, Retinal degeneration |
OMIM:613615 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria |
OMIM:607832 |
Lipoprotein Glomerulopathy |
|
Renal insufficiency, Proteinuria, Glomerulopathy, Mesangial hypercellularity |
OMIM:611771 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Nephrotic Syndrome, Type 11 |
|
Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, ... |
OMIM:616730 |
Macular Dystrophy, Vitelliform, 2 |
|
Subretinal fluid, Macular dystrophy, Cystoid macular degeneration |
OMIM:153700 |
Bothnia Retinal Dystrophy |
|
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Retinal degene... |
ORPHA:85128 |
Senior-Loken Syndrome |
|
Premature ovarian insufficiency, Stage 5 chronic kidney disease, Chronic kidney disease, Nephrono... |
ORPHA:3156 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Proteinuria, Acute kidney injury, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Fo... |
ORPHA:567548 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Papillorenal Syndrome |
|
Horseshoe kidney, Gliosis, Multicystic kidney dysplasia, Proteinuria, Chronic kidney disease, Mac... |
OMIM:120330 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:620049 |
Refractory Anemia |
|
Dyspnea, Normocytic anemia, Abnormal cardiac ventricular function, Anemia of inadequate productio... |
ORPHA:98826 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Dyspnea, Syncope, Palpitations, Elevated jugular venous pressure... |
ORPHA:422 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney disease, Renal ins... |
OMIM:310468 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Chronic kidney disease,... |
ORPHA:656 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy |
OMIM:182690 |
Galloway-Mowat Syndrome 7 |
|
Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, ... |
OMIM:618348 |
Pierson Syndrome |
|
Proteinuria, Retinal vascular tortuosity, Hypopigmentation of the fundus, Diffuse mesangial scler... |
OMIM:609049 |
Nanophthalmos |
|
Abnormal choroid morphology, Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:35612 |
C3 Glomerulopathy |
|
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Chronic kidney disease, Nephrot... |
ORPHA:329918 |
Nephrotic Syndrome, Type 1 |
|
Proteinuria, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insufficiency, Glomerular ... |
OMIM:256300 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation |
ORPHA:1852 |
Nephrotic Syndrome, Type 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Chronic kidney disease,... |
OMIM:615244 |
Alport Syndrome |
|
Glomerular basement membrane lamellation, Mesangial hypercellularity, Proteinuria, Renal tubular ... |
ORPHA:63 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:600995 |
Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy |
OMIM:609923 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Growth delay, Retinal degeneration |
OMIM:614322 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Chorioretinal dysplasia, Microphthalmia |
OMIM:616335 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
Nephronophthisis 15 |
|
Nephronophthisis, Retinal degeneration |
OMIM:614845 |
Central Areolar Choroidal Dystrophy |
|
Full-thickness macular hole, Macular atrophy, Hypopigmentation of the fundus, Foveal photorecepto... |
ORPHA:75377 |
Atrial Septal Defect, Ostium Primum Type |
|
Tricuspid regurgitation, Atrial fibrillation, Exertional dyspnea, Pulmonary artery dilatation, Pu... |
ORPHA:99106 |
Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Venous insufficiency, Edema, Atrial septal defect, Hydrops feta... |
ORPHA:90308 |
Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:612712 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:617572 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... |
OMIM:609913 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:180210 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Situs inversus totalis, Stroke, Ventricular septal defect, Atrial septal defect, Arrhythmia, Card... |
OMIM:249270 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Retinal Cone Dystrophy 1 |
|
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:180020 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Stage 5 chronic kidney disea... |
OMIM:614377 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:1574 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Abnormal macular morphology, Choroi... |
ORPHA:97341 |
Galloway-Mowat Syndrome 10 |
|
Stage 5 chronic kidney disease, Proteinuria, Podocyte foot process effacement, Diffuse mesangial ... |
OMIM:619609 |
Cone-Rod Dystrophy 22 |
|
Hyperautofluorescent macular lesion, Perifoveal ring of hyperautofluorescence, Hypoautofluorescen... |
OMIM:619531 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Nephrotic syndrome, Hypergonadotropic hypogonadism, Glomerular sclerosis, Decreased ... |
OMIM:607426 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Stage 5 chronic kidney disease, Intrauterine growth retardation, Short stature, Neph... |
OMIM:301006 |
Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Rod-cone dystrophy |
OMIM:268010 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Nephrotic syndrome, Hematuria... |
OMIM:618349 |
Maternally-Inherited Diabetes And Deafness |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Macular dystrophy, Retinopathy, Abnormal chorio... |
ORPHA:225 |
Morm Syndrome |
|
Retinal dystrophy, Abnormality of the kidney, Micropenis, Retinal atrophy |
ORPHA:75858 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis, Retinal degeneration |
OMIM:614844 |
Eisenmenger Syndrome |
|
Stroke, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Bacterial endocardi... |
ORPHA:97214 |
Choroideremia |
|
Hypopigmentation of the fundus, Granular macular appearance, Choroideremia, Pigmentary retinopath... |
OMIM:303100 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Chorioretinal dysplasia, Retinal detachment, Optic disc pallor, Short stature, Microphthalmia, Ab... |
OMIM:251270 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Macular atrophy, Stage 5 chronic kidney disease, Nephronophthisis, Glo... |
OMIM:616307 |
Familial Drusen |
|
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... |
ORPHA:75376 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Rhizomelia, Disproportionate short-trunk short stature, Short stature, R... |
OMIM:602271 |
Premature Ovarian Failure 12 |
|
Microphthalmia, Macular dystrophy, Primary amenorrhea |
OMIM:616947 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Microphthalmia, Cystoid macular degeneration, Retinal degeneration |
OMIM:267760 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Triosephosphate Isomerase Deficiency |
|
Jaundice, Normocytic anemia, Hemolytic anemia, Myopathy, Respiratory insufficiency, Respiratory i... |
OMIM:615512 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Hyperechogenic kidneys, Proteinuria, Renal tubular atrophy, Chronic kidney disease, Tubulointerst... |
OMIM:613092 |
Atrial Septal Defect, Ostium Secundum Type |
|
Stroke, Abnormal mitral valve morphology, Tricuspid regurgitation, Supraventricular arrhythmia, T... |
ORPHA:99103 |
Bardet-Biedl Syndrome 21 |
|
Hypoplasia of the fovea, Retinal atrophy, Cone/cone-rod dystrophy, Horseshoe kidney, Hyperautoflu... |
OMIM:617406 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro... |
OMIM:614196 |
Sickle Cell Anemia |
|
Reticulocytosis, Leukocytosis, Hemolytic anemia, Pigment gallstones, Hypochromic anemia, Cholesta... |
ORPHA:232 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Retinal degeneration |
OMIM:204500 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephroti... |
OMIM:601894 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Formiminoglutamic Aciduria |
|
Atrial septal defect, Anemia, Megaloblastic anemia, Abnormal concentration of acylcarnitine in th... |
ORPHA:51208 |
Galloway-Mowat Syndrome 1 |
|
Proteinuria, Camptodactyly, Diffuse mesangial sclerosis, Renal insufficiency, Focal segmental glo... |
OMIM:251300 |
Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
Diamond-Blackfan Anemia 7 |
|
Secundum atrial septal defect, Tetralogy of Fallot, Horseshoe kidney, Ventricular septal defect, ... |
OMIM:612562 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Microscopic hematuria, Proteinuria, Glomerulopathy, Stage 5 chronic kidney disease, Renal insuffi... |
OMIM:137950 |
Retinitis Pigmentosa 70 |
|
Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:615922 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy, Abnormality of retinal pigmentation |
ORPHA:2579 |
Proteinuria, Chronic Benign |
|
Renal insufficiency, Proteinuria, Albuminuria |
OMIM:618884 |
Nephrotic Syndrome, Type 22 |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... |
OMIM:619155 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Uraciluria, Microphthalmia, Growth delay |
OMIM:274270 |
Galloway-Mowat Syndrome 5 |
|
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... |
OMIM:617731 |
Birk-Aharoni Syndrome |
|
Muscular ventricular septal defect, Micropenis, Macrocytic anemia |
OMIM:620071 |
Best Vitelliform Macular Dystrophy |
|
Choroideremia, Cystoid macular degeneration |
ORPHA:1243 |
Dehydrated Hereditary Stomatocytosis |
|
Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Edema, Hemolytic anemia, Incre... |
ORPHA:3202 |
Atrial Fibrillation, Familial, 10 |
|
Stroke, Paroxysmal atrial fibrillation, Left atrial enlargement, Left ventricular hypertrophy, Tr... |
OMIM:614022 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Nail-Patella-Like Renal Disease |
|
Microscopic hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Short stature |
ORPHA:2613 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Ventricular septal defect, Hypoplastic aortic arch, Left ven... |
ORPHA:860 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperechogenic kidneys, Proteinuria, Stage 5 chronic kidney disease, Reduced renal corticomedulla... |
OMIM:603278 |
Diamond-Blackfan Anemia 1 |
|
Small thenar eminence, Coarctation of aorta, Ventricular septal defect, Atrial septal defect, Per... |
OMIM:105650 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Coarctation of aorta, Abnormal respiratory system physiology, Edema, Atrial s... |
ORPHA:101028 |
Wagner Vitreoretinopathy |
|
Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, Exudative ... |
OMIM:143200 |
Cednik Syndrome |
|
Proteinuria, Hypogonadism, Short stature, Nephrotic syndrome, Optic atrophy |
ORPHA:66631 |
Babesiosis |
|
Jaundice, Leukopenia, Hemolytic anemia, Respiratory insufficiency, Cough, Renal insufficiency, He... |
ORPHA:108 |
Spinal Muscular Atrophy, Type I |
|
Death in childhood, Proximal muscle weakness in lower limbs, Proximal amyotrophy, Spinal muscular... |
OMIM:253300 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Nephropathy, Abnormality of retinal pigmentation, Macular coloboma, Nephrolithiasis, Chorioretina... |
ORPHA:2196 |
Cofs Syndrome |
|
Camptodactyly of finger, Hypogonadism, Intrauterine growth retardation, Short stature, Microphtha... |
ORPHA:1466 |
Anti-Glomerular Basement Membrane Disease |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Retinal detachment, Hematuria |
ORPHA:375 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Myopathy, Weakness of facial musculature, Skeletal muscle atrophy, Focal segmental glomeruloscler... |
OMIM:616239 |
Cone-Rod Dystrophy 11 |
|
Macular atrophy, Macular degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:610381 |
Fixed Subaortic Stenosis |
|
Ventricular septal defect, Bacterial endocarditis, Left ventricular outflow tract obstruction, At... |
ORPHA:3092 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Optic disc pallor, Cystoid macular edema, Microphthalmia, Bone spicule pigmentation... |
OMIM:611040 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... |
OMIM:610359 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Intrauterine growth retardation, Short stature, Nephrotic syndrome, Growth delay, Fo... |
OMIM:618347 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Flexion contracture, Macular degeneration, Optic atrophy, Retinal degeneration |
OMIM:256730 |
Usher Syndrome, Type Iv |
|
Retinal degeneration, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retin... |
OMIM:618144 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Wolff-Parkinson-White syndrome, Tricuspid ... |
OMIM:619705 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Lower limb muscle weakness, Urinary incontinence, Macular degeneration, Urinary bladder sphincter... |
OMIM:604360 |
Cat-Eye Syndrome |
|
Hydronephrosis, Renal hypoplasia/aplasia, Intrauterine growth retardation, Microphthalmia, Short ... |
ORPHA:195 |
Wolfram Syndrome 1 |
|
Hydronephrosis, Neurogenic bladder, Megaloblastic anemia, Hydroureter, Cardiomyopathy, Sideroblas... |
OMIM:222300 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:614199 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Proteinuria, Nephropathy, Severe short stature |
ORPHA:2820 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydronephrosis, Megaloblastic anemia, Hydroureter, Sideroblastic anemia, Thrombocytopenia, Neutro... |
OMIM:598500 |
Diamond-Blackfan Anemia |
|
Ventricular septal defect, Horseshoe kidney, Atrial septal defect, Pure red cell aplasia, Reticul... |
ORPHA:124 |
Retinitis Pigmentosa 4 |
|
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:613731 |
Galactosemia I |
|
Premature ovarian insufficiency, Galactosuria, Albuminuria, Hypergonadotropic hypogonadism, Amino... |
OMIM:230400 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy, Myopathy |
OMIM:551500 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Restrictive ventilatory defect, Type 1 muscle fiber predominance, Muscula... |
OMIM:253700 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration |
OMIM:204200 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Takayasu Arteritis |
|
Vasculitis, Pulmonary arterial hypertension, Anemia, Hypertension, Abnormal heart valve morpholog... |
ORPHA:3287 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Microphthalmia, Chorioretinal coloboma, Hematuria, Optic atrophy |
ORPHA:1473 |
Infantile Sialic Acid Storage Disease |
|
Vacuolated lymphocytes, Death in childhood, Hydrops fetalis, Hepatomegaly, Nephrotic syndrome, Co... |
OMIM:269920 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Cardiomyopathy, Death in infancy, Splenomegaly, Macrocytic anemia |
OMIM:619046 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria, Edema, Hypertension, Elevated hepatic transaminase, Thrombocytopenia |
OMIM:189800 |
Nephrotic Syndrome, Type 7 |
|
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic-uremic syndrome, Thic... |
OMIM:615008 |
Retinitis Pigmentosa 68 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal atrophy |
OMIM:615725 |
Retinitis Pigmentosa 11 |
|
Macular atrophy, Rod-cone dystrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmen... |
OMIM:600138 |
Leber Congenital Amaurosis 1 |
|
Pigmentary retinopathy, Hyperthreoninuria, Fundus atrophy, Attenuation of retinal blood vessels, ... |
OMIM:204000 |
Familial Atrial Myxoma |
|
Jaundice, Heart murmur, Bacterial endocarditis, Pulmonic valve myxoma, Cholestasis, Tricuspid reg... |
ORPHA:615 |
Retinitis Pigmentosa 73 |
|
Peripapillary atrophy, Retinal atrophy, Epiretinal membrane, Optic disc pallor, Bone spicule pigm... |
OMIM:616544 |
Cone-Rod Dystrophy 5 |
|
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy |
OMIM:600977 |
Nephrotic Syndrome, Type 16 |
|
Minimal change glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome |
OMIM:617783 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Pulmonary arterial hypertension, Cardiomyocyte hypertrophy, Apical hypertrophic cardiomyopathy, L... |
OMIM:613255 |
Methylcobalamin Deficiency Type Cble |
|
Hemolytic-uremic syndrome, Abnormality of the liver, Hypertension, Macrocytic anemia, Increased m... |
ORPHA:2169 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercel... |
OMIM:616818 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Chorioretinal coloboma, Hematuria, Microphthalmia |
OMIM:120433 |
Atrial Septal Defect, Coronary Sinus Type |
|
Stroke, Supraventricular arrhythmia, Transient ischemic attack, Bundle branch block, Exertional d... |
ORPHA:99104 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Galloway-Mowat Syndrome 3 |
|
Proteinuria, Camptodactyly, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Intraute... |
OMIM:617729 |
Cardiomyopathy, Dilated, 1M |
|
Reduced left ventricular ejection fraction, Impaired myocardial contractility, Congestive heart f... |
OMIM:607482 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Jaundice, Megaloblastic anemia, Hepatomegaly, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:613839 |
Achromatopsia |
|
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Retina... |
ORPHA:49382 |
Frasier Syndrome |
|
Proteinuria, Stage 5 chronic kidney disease, Primary amenorrhea, Nephrotic syndrome, Focal segmen... |
OMIM:136680 |
Diamond-Blackfan Anemia 5 |
|
Leukopenia, Ventricular septal defect, Reticulocytopenia, Macrocytic anemia, Erythroid hypoplasia... |
OMIM:612528 |
Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production |
OMIM:153550 |
Hyperprolinemia Type 1 |
|
Proteinuria, Nephropathy, Prolinuria |
ORPHA:419 |
3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Atri... |
OMIM:610198 |
Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Retinal degeneration |
OMIM:311000 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Beta 2-microglobulinuria, Reduced renal corticomedullary differentiation, Renal cort... |
OMIM:611555 |
Joubert Syndrome 22 |
|
Intrauterine growth retardation, Renal hypoplasia, Microphthalmia, Retinal dysplasia |
OMIM:615665 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Macrocytic anemia, Ane... |
OMIM:617780 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, Abnormality of neut... |
ORPHA:86841 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Glomerulonephritis, Dyspnea, Diffuse alveolar hemorrhage, Restrictive ventila... |
ORPHA:99931 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... |
OMIM:600059 |
Diamond-Blackfan Anemia 10 |
|
Ventricular septal defect, Ectopic kidney, Anemia, Reticulocytopenia, Macrocytic anemia, Steroid-... |
OMIM:613309 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Muscular dystrophy, Microphthalmia, Retinal dysplasia |
OMIM:614830 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Macular atrophy, Optic disc pallor, Intrauterine growth retardation, Microphthalmia, Short statur... |
OMIM:616171 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Congestive heart failure, Dilated cardiomyopathy, Vascular dil... |
OMIM:600884 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic erythroid hype... |
OMIM:261000 |
Retinitis Pigmentosa 81 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Retinal pigment epithelial atrophy, Bone... |
OMIM:617871 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Increased urine succinate level, Elevated circulating aspartate aminotransferase concentration, L... |
OMIM:619048 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
Cardiomyopathy, Dilated, 1R |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... |
OMIM:613424 |
Cardiomyopathy, Dilated, 1Ff |
|
Death in middle age, Severely reduced left ventricular ejection fraction, Congestive heart failur... |
OMIM:613286 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Hypersegmentation of neutrophil nuclei, Skeletal muscle atrophy, Methylmalonic aciduria, Macrocyt... |
OMIM:615578 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Abnormal cardiac septum morphology, Thrombocytopenia, Anemia |
ORPHA:3319 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... |
OMIM:619041 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Anemia, Elevated hepatic transaminase, Hepatomegaly, Macrocytic anemia, He... |
OMIM:615438 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Congenital Myopathy 8 |
|
Respiratory insufficiency, Type 1 muscle fiber predominance, Weakness of facial musculature, Musc... |
OMIM:618654 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Retinal degeneration, Irregular menstruation, Bone spicule pigmentation of t... |
OMIM:615986 |
Loeffler Endocarditis |
|
Dyspnea, Mitral regurgitation, Left ventricular hypertrophy, Palpitations, Aortic regurgitation, ... |
ORPHA:75566 |
Stargardt Disease |
|
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... |
ORPHA:827 |
Frasier Syndrome |
|
Proteinuria, Glomerulopathy, Primary amenorrhea, Renal insufficiency, Nephrotic syndrome, Hypergo... |
ORPHA:347 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... |
OMIM:305390 |
Sandhoff Disease |
|
Cherry red spot of the macula, Congestive heart failure, Hepatomegaly, Splenomegaly |
ORPHA:796 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Short stature, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Ret... |
OMIM:616108 |
Glutathione Synthetase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Pigmentary retinopathy |
OMIM:266130 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Thrombocytopenia, Epis... |
OMIM:616216 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Proteinuria, Abnormal retinal vascular morphology, Weakness of facial musculature, Nephropathy, G... |
ORPHA:247691 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Retinopathy, Gliosis |
OMIM:615119 |
Hemochromatosis, Type 2B |
|
Anemia, Cardiomyopathy, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis,... |
OMIM:613313 |
Congenital Heart Defects, Multiple Types, 2 |
|
Tetralogy of Fallot, Aortic aneurysm, Left ventricular outflow tract obstruction, Ventricular sep... |
OMIM:614980 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Camptodactyly, Death in adolescence, Neonatal death, Stillbirth,... |
OMIM:619751 |
Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... |
ORPHA:75564 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Proteinuria, Glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Growth delay, Hypospadias |
OMIM:619428 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:607921 |
Glutamate Formiminotransferase Deficiency |
|
Elevated urinary formiminoglutamic acid level, Hypersegmentation of neutrophil nuclei, Megaloblas... |
OMIM:229100 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hematuria, Nephritis |
OMIM:613944 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy, Growth delay |
OMIM:617613 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Myopathy, Restrictive ventilatory defect, Muscular dystrophy, Muscle fiber atrophy, Hepatomegaly,... |
ORPHA:369840 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Moderately short stature, Hyporeflective spaces on macular O... |
ORPHA:506353 |
Bardet-Biedl Syndrome 17 |
|
Macular atrophy, Micropenis, Stage 5 chronic kidney disease, Cone/cone-rod dystrophy, Renal cyst,... |
OMIM:615994 |
Familial Exudative Vitreoretinopathy |
|
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Rhegmatog... |
ORPHA:891 |
Retinitis Pigmentosa 90 |
|
Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of retinal blood vess... |
OMIM:619007 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Type 1 muscle fiber predominance, Hypertrophic cardiomyopathy, Exertional dyspnea, Proximal amyot... |
OMIM:255160 |
Cardiomyopathy, Dilated, 2A |
|
Cardiomyocyte hypertrophy, Myofiber disarray, Congestive heart failure, Increased left ventricula... |
OMIM:611880 |
Niemann-Pick Disease, Type B |
|
Dyspnea, Foam cells with lamellar inclusion bodies, Bone-marrow foam cells, Anemia, Decreased DLC... |
OMIM:607616 |
Glycogen Storage Disease Ia |
|
Delayed puberty, Proteinuria, Decreased glomerular filtration rate, Enlarged kidney, Decreased mu... |
OMIM:232200 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613582 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Elevated urinary epinephrine, Glomerular sclerosis, Elevated urinary norepinephrine,... |
ORPHA:276621 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in childhood, Reduced left ventricular ejection fraction, Death in infancy, Neonatal death,... |
OMIM:614096 |
Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Death in infancy, Congestive heart failure |
OMIM:212080 |
Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Reduced systolic function, Congestive heart failure, ... |
OMIM:604765 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Minimal change glomerulonephritis, Proteinuria, Podocyte foot process effacement, Nephrotic syndrome |
OMIM:617006 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Abnormal respiratory system physiology, Shoulder girdle muscle weakness, Autophagic vacuoles, Res... |
ORPHA:266 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Death in childhood, Stroke, Death in infancy, Elevated hepatic transaminase, Cerebral edema, Dica... |
OMIM:611126 |
Familial Aortic Dissection |
|
Stroke, Descending aortic dissection, Aortic root aneurysm, Mucoid extracellular matrix accumulat... |
ORPHA:229 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Jaundice, Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemo... |
OMIM:616689 |
Chromosome 15Q25 Deletion Syndrome |
|
Dextrocardia, Webbed neck, Ventricular septal defect, Polysplenia, Coronary artery fistula, Macro... |
OMIM:614294 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Respiratory distress,... |
OMIM:613642 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
Nephrotic Syndrome, Type 15 |
|
Minimal change glomerulonephritis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 chr... |
OMIM:617609 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Premature ovarian insufficiency, Primary amenorrhea, Optic atrophy, Gliosis, Secondary amenorrhea |
OMIM:603896 |
Macular Degeneration, Age-Related, 3 |
|
Distal amyotrophy, Macular degeneration, Drusen, Choroidal neovascularization |
OMIM:608895 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy, Short stature |
OMIM:619090 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial mottling, Pigmentary retinopathy, Cystoid macular edema, Retinal thinn... |
ORPHA:41751 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Renal cyst, Intrauterine growth retardation, Nephropathy, Short stature, ... |
OMIM:617056 |
Aicardi-Goutieres Syndrome 9 |
|
Recurrent urinary tract infections, Hyperechogenic kidneys, Proteinuria, Micropenis, Stage 5 chro... |
OMIM:619487 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy |
OMIM:613758 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Palpitations, Premature ventricular contraction, Presyncope, Left bundle... |
OMIM:618920 |
Snakebite Envenomation |
|
Rhabdomyolysis, Stroke, Acute kidney injury, Hypotension, Edema, Angioedema, Cardiogenic shock, I... |
ORPHA:449285 |
Cardiomyopathy, Dilated, 1L |
|
Reduced left ventricular ejection fraction, Sudden cardiac death, Reduced systolic function, Cong... |
OMIM:606685 |
Imerslund-Gräsbeck Syndrome |
|
Proteinuria, Abnormal hemoglobin concentration, Reticulocytosis, Anisopoikilocytosis, Megaloblast... |
ORPHA:35858 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Dysplastic tricuspid valve, Dysplastic pulmonary valve, Atrial septal defect, Tricuspid regurgita... |
OMIM:612863 |
Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria, Megaloblastic anemia |
OMIM:261100 |
Cone-Rod Dystrophy 16 |
|
Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Bone sp... |
OMIM:614500 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Non-Involuting Congenital Hemangioma |
|
Peripheral arteriovenous fistula, Hepatic hemangioma, Thrombocytopenia, Congestive heart failure,... |
ORPHA:141179 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Microscopic hematuria, Proteinuria, Glomerulonephritis, Acute kidney injury, Glomerular C3 deposi... |
ORPHA:567544 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... |
OMIM:300946 |
Congenital Myopathy 14 |
|
Type 1 muscle fiber predominance, Weakness of facial musculature, Knee flexion contracture, Polyh... |
OMIM:618414 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Abnormal T-wave, Myeloproliferative disorder, Reduced FEV1/FVC r... |
ORPHA:70591 |
Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Endocardial fibroelastosis, Congestive heart failure, Hypoplasia of p... |
ORPHA:2022 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
Rh Deficiency Syndrome |
|
Hepatosplenomegaly, Anisocytosis, Miscarriage, Tachypnea, Reticulocytosis, Jaundice, Hemolytic an... |
ORPHA:71275 |
Cone-Rod Dystrophy 13 |
|
Macular degeneration, Cone/cone-rod dystrophy |
OMIM:608194 |
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic disc hypoplasia, Peripheral vitreous opacities, Optic nerve hypoplasia, Unilateral micropht... |
ORPHA:137902 |
Attrv122I Amyloidosis |
|
Stroke, Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, A... |
ORPHA:85451 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Stroke, Dehydration, Anemia, Pancreatitis, Renal insufficiency, Cardiomyopathy, Hepatomegaly, Res... |
ORPHA:79312 |
Central Retinal Vein Occlusion |
|
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... |
ORPHA:411527 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Renal cell carcinoma, Elevated urinary epinephrine, Glomerular sclerosis, Elevated u... |
ORPHA:29072 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
Diamond-Blackfan Anemia 13 |
|
Elevated red cell adenosine deaminase level, Normocytic anemia |
OMIM:615909 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Calf muscle hypertrophy, Cardiomyopathy, EMG: myopathic abnormalities, Scapular winging, Increase... |
OMIM:608099 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Lower limb muscle weakness, Distal amyotrophy, Urinary incontinence, Macular degeneration, Urinar... |
OMIM:270700 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Renal cortical microcysts, Hydronephrosis, Macroglossia, Brushfield spots, Pigmentary retinopathy... |
OMIM:214100 |
Retinitis Pigmentosa 27 |
|
Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Bone spicule pigment... |
OMIM:613750 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
Butyrylcholinesterase Deficiency |
|
Abnormality of the liver, Congestive heart failure, Respiratory failure, Respiratory failure requ... |
ORPHA:132 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria, Megaloblastic anemia |
OMIM:618882 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Dextrocardia, Megaloblastic anemia, Atrial septal defect, Anemia, Hepatomegaly, Methylmalonic aci... |
OMIM:277380 |
Progressive Bifocal Chorioretinal Atrophy |
|
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy |
ORPHA:75373 |
Galloway-Mowat Syndrome 9 |
|
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis |
OMIM:619603 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect, Reticulocytopenia, Macrocytic anemia, Normochromic anemia, Elevated re... |
OMIM:615550 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Cardiac arrest, Stroke, Reduced left ventricular ejection fraction, Hepatomegaly, Ventricular hyp... |
OMIM:115197 |
Retinal Dystrophy And Obesity |
|
Peripapillary atrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Re... |
OMIM:616188 |
Rapidly Involuting Congenital Hemangioma |
|
Peripheral arteriovenous fistula, Hepatic hemangioma, Thrombocytopenia, Congestive heart failure,... |
ORPHA:141184 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... |
OMIM:601718 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Unilateral renal agenesis, Methylmalonic aciduria, Abnormal heart morpholog... |
ORPHA:79284 |
Microcephaly-Cardiomyopathy Syndrome |
|
Intrauterine growth retardation, Short stature, Abnormality of retinal pigmentation |
ORPHA:2515 |
Jeune Syndrome |
|
Renal insufficiency, Nephropathy, Short stature, Nephronophthisis, Abnormality of retinal pigment... |
ORPHA:474 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Methylmalonic aciduria, Megaloblastic anemia, Homocystinuria |
OMIM:236270 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Pulmonic stenosis, Hydrops fetalis, Chronic pulmonary obstructio... |
ORPHA:2414 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Ventricular septal defect, Bacterial endocarditis, Perimembranous... |
ORPHA:99095 |
Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Hypogonadism, Macular degeneration,... |
OMIM:616629 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Abnormal pulmonary valve morphology, Camptodactyly of finger, Arrhythmia, Hepatomegaly, Death in ... |
ORPHA:1194 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Limb-girdle muscle weakness, Reduced muscle fiber alpha dystroglycan, Micropenis, Pigmentary reti... |
ORPHA:370968 |
Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Chronic kidney disease, Abnor... |
ORPHA:730 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:614181 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Pigmentary retinopathy, Abnormality of retinal pigmentation |
OMIM:179840 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ... |
OMIM:613550 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Bardet-Biedl Syndrome 2 |
|
Rod-cone dystrophy, Hypogonadism, Retinal degeneration |
OMIM:615981 |
Ethanolaminosis |
|
Cardiomegaly, Death in infancy |
OMIM:227150 |
Hemoglobin E Disease |
|
Miscarriage, Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volu... |
ORPHA:2133 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Megaloblastic anemia, Homocystinuria |
OMIM:250940 |
Retinitis Pigmentosa 38 |
|
Macular atrophy, Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy |
OMIM:613862 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory insufficiency due to muscle weakness, Hepatomegaly, Elevated hepatic transaminase, Re... |
OMIM:613561 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Macular Dystrophy, Vitelliform, 3 |
|
Macular atrophy, Vitelliform-like macular lesions, Macular dystrophy, Drusen, Choroidal neovascul... |
OMIM:608161 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor |
OMIM:619389 |
Carnitine Deficiency, Systemic Primary |
|
Dehydration, Mitral regurgitation, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:212140 |
Retinitis Pigmentosa 54 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retin... |
OMIM:613428 |
Mucopolysaccharidosis-Plus Syndrome |
|
Death in childhood, Enlarged kidney, Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopa... |
OMIM:617303 |
Fabry Disease |
|
Proteinuria, Left ventricular hypertrophy, Anemia, Arrhythmia, Renal insufficiency, Hypertension,... |
OMIM:301500 |
Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:229050 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Proteinuria, Glomerulopathy, Hypopigmented skin patches, Abnormal retinal vascular morphology, Re... |
ORPHA:2715 |
Laurence-Moon Syndrome |
|
Short stature, Pigmentary retinopathy, Chorioretinal atrophy, Micropenis |
OMIM:245800 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Left bundle b... |
OMIM:601493 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Micropenis, Hemolytic anemia, Hydrops fetalis,... |
OMIM:613673 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Chronic tubulointerstitial nephritis, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:614376 |
Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aortic root aneurysm, Abnormal heart valve morphology, Ventr... |
ORPHA:3400 |
Macular Degeneration, Age-Related, 1 |
|
Foveal hypopigmentation, Macular hemorrhage, Macular drusen, Macular degeneration, Geographic atr... |
OMIM:603075 |
Renal Failure, Progressive, With Hypertension |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephritis |
OMIM:161900 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Chorioretinal coloboma, Optic pit, Microphthalmia |
OMIM:616428 |
Cardiomyopathy, Dilated, 1Ee |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Congestive heart failure... |
OMIM:613252 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... |
OMIM:604169 |
L-2-Hydroxyglutaric Aciduria |
|
Optic atrophy, Gliosis, L-2-hydroxyglutaric aciduria |
OMIM:236792 |
Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Hepatocellular carcinoma, Pulmonary arterial hypertension, Jaundice, Leukocyt... |
ORPHA:231222 |
Distal 16P11.2 Microdeletion Syndrome |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Renal agenesis, Vesicoureteral re... |
ORPHA:261222 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... |
OMIM:304020 |
Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Anemia, Hydrops fetalis, Thrombocytopenia, Hypertrophic cardiomyop... |
ORPHA:295 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Central sleep apnea, Abnormal heart morphology, Obstructive sleep apnea, Congestive heart failure... |
ORPHA:70472 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Premature ovarian insufficiency, Renal insufficiency, Intrauterine growth retardation, Retinal de... |
ORPHA:96179 |
Alg9-Cdg |
|
Hydronephrosis, Torticollis, Enlarged kidney, Ventricular septal defect, Atrial septal defect, Hy... |
ORPHA:79328 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect, Reticulocytopenia, Macrocytic anemia, Erythroid hypoplasia, Neutropenia |
OMIM:612527 |
Hemimegalencephaly |
|
Optic atrophy, Gliosis |
ORPHA:99802 |
Atrial Standstill |
|
Reduced left ventricular ejection fraction, Cardiomyopathy, Abnormal heart morphology, Sick sinus... |
ORPHA:1344 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in childhood, Renal cyst, Myopathy, Polyhydramnios, Renal insufficiency, Cardiomyopathy, He... |
OMIM:614922 |
Retinitis Pigmentosa 88 |
|
Macular degeneration, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ... |
OMIM:618826 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Membranoproliferative glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:613913 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Acute kidney injury, Leukocytosis, Cerebral hemorrhage, Anemia, Respiratory insuffic... |
OMIM:618886 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Retinal dysplasia |
OMIM:615771 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Stroke, Descending aortic dissection, Posterior cerebral artery stenosis, Thoracic aortic aneurys... |
OMIM:132900 |
Nanophthalmos 4 |
|
Optic disc drusen, Microphthalmia |
OMIM:615972 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Proteinuria, Membranoproliferative glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:608709 |
Retinitis Pigmentosa |
|
Hypogonadism, Abnormal retinal vascular morphology, Hypoplasia of penis, Abnormality of retinal p... |
ORPHA:791 |
Hb Bart'S Hydrops Fetalis |
|
Hydrops fetalis, Anemia, Polyhydramnios, Abnormal hemoglobin, Hepatomegaly, Congestive heart fail... |
ORPHA:163596 |
Cardiomyopathy, Dilated, 1Dd |
|
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Retinitis Pigmentosa 80 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:617781 |
Avian Influenza |
|
Rhabdomyolysis, Miscarriage, Acute kidney injury, Dyspnea, Leukopenia, Tachypnea, Cough, Producti... |
ORPHA:454836 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Right ventricular dilatation, Left bundle branch block, First degree atr... |
OMIM:615616 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Restrictive ventilatory defect, Limb-girdle muscular dystrophy, Right ventricular dilatation, Myo... |
ORPHA:369847 |
Hydrops Fetalis, Nonimmune |
|
Nonimmune hydrops fetalis, Anemia, Congestive heart failure, Hydrops fetalis |
OMIM:236750 |
Achromatopsia 7 |
|
Absent foveal reflex, Hypoplasia of the fovea, Macular atrophy |
OMIM:616517 |
Hemochromatosis, Type 2A |
|
Arrhythmia, Cardiomyopathy, Hepatomegaly, Cirrhosis, Azoospermia, Congestive heart failure, Dilat... |
OMIM:602390 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... |
OMIM:615396 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619386 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, Pancytopenia, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Congenital muscular dystrophy, Microphthalmia, Retinal dysplasia |
ORPHA:324416 |
Retinitis Pigmentosa 9 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular edema |
OMIM:180104 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hydrops fetalis, Hepatomegaly, Anemi... |
OMIM:224120 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Coarctation of aorta, Atrial septal defect, Methylmalonic acidur... |
OMIM:614857 |
Cardiomyopathy, Dilated, 1U |
|
Left ventricular hypertrophy, Syncope, Severely reduced left ventricular ejection fraction, First... |
OMIM:613694 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Coarctation of aorta, Atrial septal defect, Ventricular septal defect, Anemia... |
OMIM:606003 |
Thrombotic Thrombocytopenic Purpura |
|
Stroke, Proteinuria, Acute kidney injury, Reticulocytosis, Microangiopathic hemolytic anemia, Dys... |
ORPHA:54057 |
Retinitis Pigmentosa 76 |
|
Peripapillary atrophy, Hyperautofluorescent macular lesion, Cystoid macular edema, Retinal thinni... |
OMIM:617123 |
Phosphoglycerate Kinase 1 Deficiency |
|
Rhabdomyolysis, Myopathy, Exercise-induced myoglobinuria, Renal insufficiency, Retinal dystrophy |
OMIM:300653 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613801 |
Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Proteinuria, Retinal detachment, Retinal dystrophy |
ORPHA:2143 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Retinal degeneration |
OMIM:256731 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertension, Premature coronary artery atherosclerosis, Azoospermia, Congestive heart failure, H... |
OMIM:615703 |
Idiopathic Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Dyspnea, Abnormal jugular vein morphology, Syncope, Palpitations... |
ORPHA:275766 |
Cardiomyopathy, Dilated, 1Bb |
|
Dyspnea, Severely reduced left ventricular ejection fraction, Left bundle branch block, Congestiv... |
OMIM:612877 |
Shwachman-Diamond Syndrome |
|
Hepatomegaly, Macrocytic anemia, Abnormal heart morphology, Acute myeloid leukemia, Pancreatic hy... |
ORPHA:811 |
Dent Disease |
|
Proteinuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney disease, Renal phosphate was... |
ORPHA:1652 |
Overhydrated Hereditary Stomatocytosis |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Pulmonary embolism, Hepatomegaly, Prolonged neonatal... |
OMIM:185000 |
Acquired Partial Lipodystrophy |
|
Microscopic hematuria, Proteinuria, Glomerulopathy, Myopathy |
ORPHA:79087 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatosplenomegaly, Nonimmune hydrops fetalis, Myopathy, Respiratory insufficiency, Polyhydramnio... |
ORPHA:367 |
Retinitis Pigmentosa 95 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Perifoveal ring of hyperautofluorescence... |
OMIM:620102 |
Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia |
OMIM:609909 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy |
ORPHA:217622 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Optic nerve misrouting, Foveal hyperpigmentation, Microphthalmia |
OMIM:609218 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Stroke, Pulmonary arterial hypertension, Dehydration, Jaundice, Megaloblastic anemia, Hemolytic-u... |
ORPHA:79282 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hematuria, Nephritis |
OMIM:161950 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Coronary artery calcification, Mitral regurgitation, Nephrocalcinosis, Reduced left ventricular e... |
OMIM:614473 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Craniofaciofrontodigital Syndrome |
|
Stroke, Ventricular septal defect, Atrial septal defect, Persistent fetal circulation, Pulmonary ... |
ORPHA:363705 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Hydronephrosis, Moderate albuminuria, Growth delay, Retinopathy, Proportionate short stature |
OMIM:619269 |
Congenital Stationary Night Blindness |
|
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... |
ORPHA:215 |
Retinitis Pigmentosa 51 |
|
Abnormality of the kidney, Macular degeneration, Bone spicule pigmentation of the retina, Attenua... |
OMIM:613464 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Polycystic kidney dysplasia, Cardiomyopathy, Hepatomegaly, Abnormal heart morphology, Acute pancr... |
ORPHA:26791 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemia, ... |
ORPHA:2575 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Arthrogryposis multiplex congenita, Glycosuria, Moderate albuminuria, Intrauterine growth retarda... |
ORPHA:99885 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Death in infancy, Apnea, Respiratory failure, Hypertrophic cardiomyopa... |
OMIM:616277 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Death in childhood, Proteinuria, Glycosuria, Anemia, Renal Fanconi syndrome, Weakness of facial m... |
OMIM:220110 |
16Q24.3 Microdeletion Syndrome |
|
Mitral regurgitation, Ventricular septal defect, Increased mean corpuscular volume, Thrombocytope... |
ORPHA:261250 |
Anemia, Sideroblastic, 1 |
|
Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate production, Macrocytic ... |
OMIM:300751 |
Refsum Disease, Classic |
|
Limb muscle weakness, Abnormal renal physiology, Rod-cone dystrophy, Retinal degeneration |
OMIM:266500 |
Fibronectin Glomerulopathy |
|
Microscopic hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abno... |
ORPHA:84090 |
Dominant Beta-Thalassemia |
|
Hepatosplenomegaly, Anisocytosis, Hepatocellular carcinoma, Dyspnea, Jaundice, High-output conges... |
ORPHA:231226 |
Cardiomyopathy, Dilated, 1Hh |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy |
OMIM:613881 |
Beta-Thalassemia Major |
|
Hepatomegaly, Hepatosplenomegaly, Dyspnea, High-output congestive heart failure, Decreased mean c... |
ORPHA:231214 |
Microphthalmia, Isolated 6 |
|
Retinal fold, Microphthalmia |
OMIM:613517 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Elevated hepatic transaminase, Increased m... |
ORPHA:98870 |
Leber Congenital Amaurosis 9 |
|
Macular atrophy, Retinal pigment epithelial mottling, Optic disc pallor, Macular coloboma, Retina... |
OMIM:608553 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Leg muscle stiffness, Distal amyotrophy, Functional abnormality of the bladder, Pigmentary retino... |
ORPHA:100996 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Myopathy, Arrhythmia, Hypertension,... |
OMIM:540000 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Polyhydramnios, Congestive heart failure, Respiratory failure, Ragged-red muscle fibers |
OMIM:616794 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Muscle fiber intracytoplasmic reducing inclusion bodies, Death in adolescence, Respiratory insuff... |
OMIM:300717 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Chronic kidney disease, Macroscopic hematu... |
ORPHA:567546 |
Sjogren-Larsson Syndrome |
|
Macular degeneration, Short stature, Retinal thinning, Macular dots, Macular crystals, Retinal pi... |
OMIM:270200 |
Leber Congenital Amaurosis 2 |
|
Pigmentary retinopathy, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, ... |
OMIM:204100 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Anemia, Perimembranous ventricular septal defect, Oligohydramnios, Hypertro... |
OMIM:620135 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Left ventricular hypertrophy, Abnormality of the shoulder girdle musculature, Absent muscle dystr... |
ORPHA:206546 |
Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Respiratory insufficiency, Hepatomegaly, Microcytic anemia, Hepatiti... |
ORPHA:848 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Proteinuria, Hemolytic anemia, Renal insufficiency, Foam cells, Normochromic anemia |
OMIM:245900 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Enlarged kidney, Anemia, Extramedullary hematopoiesis, Hepatomegaly, Thrombocytopenia... |
OMIM:615285 |
Immunodeficiency, Common Variable, 6 |
|
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Macroscopic ... |
OMIM:613496 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Abnormality of retinal pigmentation |
ORPHA:480 |
Pontocerebellar Hypoplasia, Type 1C |
|
Death in childhood, Spinal muscular atrophy, Respiratory insufficiency, Skeletal muscle atrophy, ... |
OMIM:616081 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Renal hypoplasia |
OMIM:600151 |
Sjögren-Larsson Syndrome |
|
Macular degeneration, Short stature, Abnormality of retinal pigmentation, Retinopathy, Generalize... |
ORPHA:816 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Short stature, Nephronophthisis, Chronic kidney disease, Retinal degeneration |
OMIM:615630 |
Cone-Rod Dystrophy 15 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy |
OMIM:613660 |
Glycogen Storage Disease Ib |
|
Delayed puberty, Proteinuria, Decreased glomerular filtration rate, Enlarged kidney, Short statur... |
OMIM:232220 |
Hsd10 Mitochondrial Disease |
|
Optic atrophy, Abnormal mitochondrial morphology, Retinal degeneration |
OMIM:300438 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Polycystic kidney dysplasia, Antenatal intracerebral hemorrhage, Enlarged kidney, Hepatomegaly, R... |
OMIM:608836 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Inferior chorioretinal coloboma, Microphthalmia |
OMIM:614497 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Decreased glomerular filtration rate, Tubu... |
OMIM:174000 |
Congenital Toxoplasmosis |
|
Jaundice, Anemia, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Cardiomegaly, As... |
ORPHA:858 |
Retinitis Pigmentosa 84 |
|
Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retina... |
OMIM:618220 |
Cone Dystrophy 3 |
|
Macular atrophy, Cone/cone-rod dystrophy |
OMIM:602093 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Chorioretinal coloboma, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Schimke Immuno-Osseous Dysplasia |
|
Stroke, Transient ischemic attack, Proteinuria, Pulmonary arterial hypertension, Hypertension, Ly... |
ORPHA:1830 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Dyspnea, Leukopenia, Aplastic anemia, Anemia, Lymphopenia, Cirrhosis, Increased mean corpuscular ... |
OMIM:127550 |
Orotic Aciduria |
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Oroticaciduria, Pyrimidine-responsive megaloblastic anemia, Anisocytosis, Folate-unresponsive meg... |
OMIM:258900 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
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Proteinuria, Retinopathy, Retinal pigment epithelial mottling, Stage 5 chronic kidney disease |
OMIM:219900 |
Immunodeficiency 91 And Hyperinflammation |
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Hepatosplenomegaly, Death in childhood, Acute hepatic failure, Pleural effusion, Edema, Hemolytic... |
OMIM:619644 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
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Dyspnea, Myopathy, Arrhythmia, Weakness of facial musculature, Respiratory insufficiency due to m... |
ORPHA:352447 |
Denys-Drash Syndrome |
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Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Enlarged kidney, Nephropathy, Nephro... |
OMIM:194080 |
Immunodeficiency 95 |
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Respiratory distress, Recurrent viral pneumonia, Lymphopenia, Respiratory failure |
OMIM:619773 |
Cardiomyopathy, Familial Hypertrophic, 27 |
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Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... |
OMIM:618052 |
Intermediate Nemaline Myopathy |
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