Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... |
OMIM:616963 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Reduced visual a... |
OMIM:615993 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Large central visual... |
ORPHA:85128 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Drusen, Glomer... |
ORPHA:329918 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Retinal dystrophy, Obesity, Renal cyst, Rod-cone dystrophy |
OMIM:615987 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Blindness, Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Lar... |
ORPHA:59181 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increased blood ur... |
ORPHA:251004 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... |
OMIM:143880 |
Preeclampsia |
|
Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr... |
ORPHA:275555 |
Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Central scotoma, Granular macular appearance, Reduced visual ... |
OMIM:608051 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... |
OMIM:620056 |
Cone-Rod Dystrophy 7 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Visual impairment, Color vision... |
OMIM:603649 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co... |
OMIM:616544 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Glyco... |
OMIM:618913 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,... |
OMIM:605670 |
Non-Functioning Paraganglioma |
|
Hypertensive retinopathy, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
ORPHA:94080 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Retinal dystrophy, Polyuria, Thickening of the tubular basement membrane, Im... |
OMIM:266900 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Nyctalopia, Obesity, Renal cyst, Rod-cone dystrophy, Retinal degeneration |
OMIM:615982 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Peripheral retinal atrophy, Drusen, Central scotoma, Reduced visual acuity, Abnormality of macula... |
OMIM:136550 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular scar, Drusen, Macular degeneration, Progressive visual loss |
OMIM:615439 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
Stargardt Disease 3 |
|
Macular flecks, Macular atrophy, Reduced visual acuity, Macular dystrophy, Visual impairment |
OMIM:600110 |
Morm Syndrome |
|
Retinal atrophy, Retinal dystrophy, Abnormality of the kidney, Photophobia, Truncal obesity, Prog... |
ORPHA:75858 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Myopia, Small for gestational age, Pigmentary retinopathy, Micropenis, Neonatal hyperbilirubinemi... |
ORPHA:3363 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Failure to thrive |
OMIM:239199 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy, Central scotoma, Reduced visual acuity, Color... |
OMIM:608850 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Elevated circulating creatinine concentration, Hypertension, Abnormal ... |
OMIM:616733 |
Best Vitelliform Macular Dystrophy |
|
Metamorphopsia, Visual field defect, Cystoid macular degeneration, Choroideremia, Visual impairme... |
ORPHA:1243 |
Macular Dystrophy, Vitelliform, 2 |
|
Reduced visual acuity, Subretinal fluid, Cystoid macular degeneration, Macular dystrophy, Visual ... |
OMIM:153700 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Bardet-Biedl Syndrome 21 |
|
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Myopia, Retinal atrophy, Retinal thinning, Blin... |
OMIM:617406 |
Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Weight loss, Hematuria, Hypertension, Internal hemorrhage |
ORPHA:69077 |
Bietti Crystalline Dystrophy |
|
Blindness, Retinal pigment epithelial atrophy, Retinal thinning, Large central visual field defec... |
ORPHA:41751 |
Macular Dystrophy, Patterned, 3 |
|
Reduced visual acuity, Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy |
OMIM:617111 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Hypertensive retinopathy, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated ... |
OMIM:171420 |
Blue Diaper Syndrome |
|
Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine, Hyperphosphatemia |
ORPHA:94086 |
Nephronophthisis 15 |
|
Blindness, Retinal degeneration, Obesity, Nephronophthisis |
OMIM:614845 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Hypertension, Decreased circulating renin level |
OMIM:614492 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy, Visual impairment |
OMIM:126600 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy, Visual impairment |
OMIM:613827 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N... |
OMIM:620342 |
Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Photophobia, Progressive visual loss, Retinal de... |
OMIM:180020 |
Papillorenal Syndrome |
|
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... |
OMIM:120330 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia, Hypertension |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia, Hypertension |
OMIM:614495 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph... |
OMIM:145001 |
Achromatopsia |
|
Hypoplasia of the fovea, Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial m... |
ORPHA:49382 |
Hyperparathyroidism 4 |
|
Nephrolithiasis, Hypercalcemia |
OMIM:617343 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Supraventricular arrhyth... |
OMIM:611773 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... |
OMIM:256100 |
Alport Syndrome |
|
Mesangial hypercellularity, Macular degeneration, Nephritis, Tubulointerstitial fibrosis, Glomeru... |
ORPHA:63 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertensive retinopathy, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norep... |
ORPHA:276621 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia |
ORPHA:2668 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia, Hypertension |
OMIM:614496 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Visual impairment, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Mpdu1-Cdg |
|
Optic atrophy, Elevated circulating creatine kinase concentration, Renal cortical cysts |
ORPHA:79323 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph... |
OMIM:609913 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Pericentral scotoma, Peripheral retinal degeneration,... |
OMIM:609021 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization, Reduced visual acuity |
OMIM:616118 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Peripheral retinal atrophy, Nyctalopia, Absent foveal reflex, Decreased retino... |
OMIM:615147 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:615922 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... |
OMIM:617056 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks, Reduced visual acuity |
OMIM:603786 |
Wagner Vitreoretinopathy |
|
Myopia, Retinal pigment epithelial atrophy, Visual loss, Optically empty vitreous, Optic atrophy,... |
OMIM:143200 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Macular Dystrophy, Vitelliform, 3 |
|
Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho... |
OMIM:608161 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... |
ORPHA:35710 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Blindness, Nyctalopi... |
OMIM:180210 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Blindness, Constriction of peripheral... |
OMIM:600138 |
Diffuse Neonatal Hemangiomatosis |
|
Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia |
ORPHA:2123 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Visual field defect, Attenuation of retin... |
OMIM:609923 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ... |
OMIM:613845 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... |
ORPHA:99879 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Small Cell Carcinoma Of The Bladder |
|
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia |
ORPHA:284400 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertensive retinopathy, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norep... |
ORPHA:29072 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Reduced visual acuity, Photophobia, Peripapillary atrophy, H... |
OMIM:617879 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... |
OMIM:620152 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Central scotoma, Reduced visual acu... |
OMIM:600977 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Blindness, Optic atrophy, Concentric hypertrophic cardiomyopathy, Reduced visual acuity, Macular ... |
OMIM:204200 |
Pheochromocytoma |
|
Tachycardia, Hypertensive retinopathy, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated ... |
OMIM:171300 |
Hyperleucine-Isoleucinemia |
|
Failure to thrive, Retinal degeneration |
OMIM:238340 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Nyctalopia, Reduced visual a... |
OMIM:613731 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy, Retinal degeneration |
OMIM:257970 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticomedullary differ... |
OMIM:263200 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin... |
ORPHA:1652 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration, Nephronophthisis |
OMIM:613615 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu... |
OMIM:304020 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... |
ORPHA:2260 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... |
OMIM:613095 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration, Reduced visual acuity |
OMIM:300834 |
Nephronophthisis 14 |
|
Retinal degeneration, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Reduced visual... |
OMIM:616188 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ... |
ORPHA:439232 |
Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Reduced visual acuity, Photophobia, Macular degeneration, Visual impairm... |
OMIM:608194 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Progressive visual loss, Retinal degeneration |
OMIM:601780 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Drusen, Chronic kidney disease, Stage 5 ... |
ORPHA:54370 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... |
OMIM:618144 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Failure to thrive, Tubulointerstitial fibrosis |
OMIM:263000 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts, Retinal vascular tortuosity |
ORPHA:73229 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Abnormality of the kidney, Nyctalopia, Reduced visual ac... |
OMIM:613464 |
Retinitis Pigmentosa Inversa With Deafness |
|
Blindness, Rod-cone dystrophy, Retinitis pigmentosa inversa |
OMIM:268010 |
Retinitis Pigmentosa 68 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu... |
OMIM:615725 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Hypoplasia of penis, Small for gestational age, Retinal degeneration |
OMIM:275400 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria |
ORPHA:163693 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, Reduced renal corticom... |
OMIM:617610 |
Cone-Rod Dystrophy 11 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Slow decrease in visual acuity,... |
OMIM:610381 |
Congenital Disorder Of Glycosylation, Type If |
|
Failure to thrive, Optic atrophy, Renal cortical cysts |
OMIM:609180 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
High hypermetropia, Retinal degeneration |
OMIM:251700 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:610359 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Blindness, Macular ... |
OMIM:613750 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr... |
OMIM:241500 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a... |
ORPHA:284426 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalciuria, Micropenis, Hypospadias, Hypercalcemia |
OMIM:614732 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Cystoid macu... |
OMIM:267760 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... |
OMIM:614723 |
Coach Syndrome 2 |
|
Hypertension, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Chorioretina... |
OMIM:619111 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary... |
ORPHA:89938 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Polyuria, Renal salt wasting, ... |
OMIM:601678 |
Glycogen Storage Disease Iv |
|
Cardiomyopathy, Failure to thrive, Portal hypertension, Tubulointerstitial fibrosis |
OMIM:232500 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:601718 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... |
OMIM:613090 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Myopia, Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 c... |
OMIM:614376 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Hypotaurinemia, Macular atrophy, Retinal pigment ep... |
OMIM:145350 |
Cone-Rod Dystrophy 15 |
|
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Nyctalopia, Photopho... |
OMIM:613660 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Increased total bilirubin |
OMIM:174050 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... |
OMIM:601198 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Reduc... |
OMIM:610188 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Constriction of peri... |
OMIM:619007 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyper... |
OMIM:620366 |
Oculoskeletodental Syndrome |
|
Nephrocalcinosis, Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
Renal Coloboma Syndrome |
|
Myopia, Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dyspl... |
ORPHA:1475 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Constriction of peripheral visual field, Peripheral retinal atrophy, Macular a... |
OMIM:613862 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:611040 |
Refsum Disease, Classic |
|
Congestive heart failure, Nyctalopia, Elevated circulating phytanic acid concentration, Cardiomyo... |
OMIM:266500 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ... |
ORPHA:97362 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Failure to thrive, Tricuspid regurgitation, Hypospadias, Small for gestatio... |
OMIM:614866 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Progressive visual loss, Retinal degeneration |
OMIM:204500 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Blindness, Optic atrophy, Macular degeneration, Progressive visual loss, Retinal degeneration |
OMIM:256730 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Elevated systolic blood pressure, Hypo... |
OMIM:300539 |
Arima Syndrome |
|
Blindness, Proteinuria, Polyuria, Retinal dystrophy, Optic atrophy, Stage 5 chronic kidney diseas... |
OMIM:243910 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... |
OMIM:123550 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Nyctalopia, Opt... |
OMIM:600059 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:617871 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Polyuria, Macular atrophy, Stag... |
OMIM:615994 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Gastrointestinal hemorrhage, Proteinuria, Abnormal retinal vascular mor... |
ORPHA:247691 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Orthostatic hypotension, Hypercalcemia, Myocardial infarction,... |
ORPHA:95409 |
Achromatopsia 7 |
|
Hypoplasia of the fovea, Macular atrophy, Central scotoma, Absent foveal reflex, Reduced visual a... |
OMIM:616517 |
Oculoskeletodental Syndrome |
|
Renal agenesis, Hypercalcemia, Small for gestational age, Hypercalciuria, Lacunar stroke, Mucopol... |
OMIM:618440 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Myopia, Renal insufficiency, Hypospadias, Retinal dystrophy, Visual loss, Subretinal deposits, Re... |
ORPHA:397715 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Decreased serum creatinine, A... |
ORPHA:54057 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Multiple renal cysts, Increased total bilirubin |
ORPHA:2924 |
Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Visual loss, Optic atrophy, Hypertrophic cardio... |
OMIM:300438 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... |
OMIM:145981 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Bestrophinopathy, Autosomal Recessive |
|
Hypermetropia, Retinal pigment epithelial atrophy, Reduced visual acuity, Retinal flecks |
OMIM:611809 |
Oguchi Disease |
|
Myopia, Mizuo phenomenon, Diplopia, Visual field defect, Macular degeneration, Congenital station... |
ORPHA:75382 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciuria |
OMIM:145980 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Hypercalciuria, Aminoaciduria, Hypophosph... |
OMIM:239200 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Central Retinal Vein Occlusion |
|
Papilledema, Large central visual field defect, Epiretinal membrane, Visual loss, Intraretinal he... |
ORPHA:411527 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Urinary incontinence, Obesity, Urinary urgency, Macular degeneration, Visual impairment, Urinary ... |
OMIM:604360 |
Hypophosphatasia |
|
Failure to thrive in infancy, Hypercalcemia |
ORPHA:436 |
Acute Zonal Occult Outer Retinopathy |
|
Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con... |
ORPHA:284454 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... |
OMIM:223900 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology |
OMIM:602114 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic syndrome, Elevate... |
OMIM:274150 |
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 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Elevated circulating crea... |
ORPHA:230 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Hypospadias, Pigmentary retinopathy, Aminoaciduria, Albuminuria, Elevated circ... |
OMIM:214100 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Cardiomyopathy, Nephropathy, Abnormal renal tu... |
ORPHA:1909 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Hypercalcemia, Weight loss |
ORPHA:97289 |
Cone Dystrophy 3 |
|
Cone/cone-rod dystrophy, Macular atrophy, Reduced visual acuity, Photophobia, Progressive visual ... |
OMIM:602093 |
Ophthalmoplegia, External, And Myopia |
|
Myopia, Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Atrial fibrillation, Increased blood urea nitrogen, Hypomagnesemia, Noct... |
OMIM:223360 |
Multiple Myeloma |
|
Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the bladder, Weight ... |
ORPHA:29073 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Small for gestational age, Renal sa... |
OMIM:241200 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Myopia, Retinal atrophy, Retinal dystrophy, Elevated circulating creatine kinase concentration, A... |
ORPHA:370022 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration, Obesity |
OMIM:603233 |
Hsd10 Disease, Infantile Type |
|
Blindness, Retinal degeneration, Visual loss, Optic atrophy, Hyperammonemia, Hypertrophic cardiom... |
ORPHA:391428 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... |
ORPHA:364055 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hypospadias, Small for gestational age, Increased serum iron, Hypoalbuminem... |
OMIM:222470 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Visual loss, Optic atrophy, Cardiomyopathy, Aminoaciduria, Arrhythmia, R... |
OMIM:249270 |
Juvenile Nephropathic Cystinosis |
|
Photophobia, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuri... |
ORPHA:411634 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration |
OMIM:614322 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosphatemia |
OMIM:156400 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Myopia, Hypertriglyceridemia, Hypercalcemia, Cerebral visual impairment, Hypercalciuria, Renal cy... |
ORPHA:369837 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... |
ORPHA:79233 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Proteinuria, Epistaxis, Hyperlipidemia, Stage 5 chronic kidney disease, Nep... |
ORPHA:79259 |
Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Nyctalopia, Renal fibrosis, Pro... |
OMIM:618161 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:618826 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Renal cyst, Hypertrophic cardiomyopathy, Tubular luminal dilatation, Renal i... |
OMIM:619902 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Shortened QT interval, Nephrolithiasis, Rena... |
ORPHA:143 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Multicystic kidney dysplasia |
ORPHA:2111 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Calcium nephrolithiasis, Ventricular arrhythmia, Abnormal left ventricular... |
ORPHA:36913 |
Joubert Syndrome 16 |
|
Retinal dystrophy, Renal cyst, Nephronophthisis |
OMIM:614465 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Blindness, Macular atrophy, Nyctalopia, Progressive visu... |
OMIM:617781 |
Alg6-Cdg |
|
Rod-cone dystrophy, Decreased LDL cholesterol concentration, Hypoalbuminemia, Failure to thrive, ... |
ORPHA:79320 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Rod-cone dystrophy, Nephronophthisis |
ORPHA:140976 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Macular scar, Hydroxyprolinemia, Hypercalciuria, Angioid... |
OMIM:239000 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Constriction of peripheral visual field, Retinal degeneration, Cardiomyop... |
OMIM:520000 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Obesity, Renal cyst, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
Infantile Myofibromatosis |
|
Hypercalcemia, Abnormality of the kidney |
ORPHA:2591 |
Cockayne Syndrome Type 1 |
|
Renal insufficiency, Proteinuria, Optic atrophy, Photophobia, Pigmentary retinopathy, Hypertensio... |
ORPHA:90321 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Failure to thrive |
OMIM:214700 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure... |
OMIM:154230 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:617460 |
Axial Osteomalacia |
|
Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:109130 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP respon... |
ORPHA:94090 |
Joubert Syndrome 20 |
|
Retinopathy, Renal cyst |
OMIM:614970 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia, Retinal degeneration |
OMIM:617173 |
Relapsing Fever |
|
Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati... |
ORPHA:91547 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Myopia, Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, Progressive... |
OMIM:264420 |
Monosomy 13Q34 |
|
Epistaxis, Hypercalcemia, Fetal pyelectasis, Obesity, Hematochezia, Pulmonic stenosis |
ORPHA:96168 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Nyctalopia, Retinal dystrophy |
OMIM:607475 |
Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts |
ORPHA:3033 |
Alport Syndrome 3A, Autosomal Dominant |
|
Myopia, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomeruloneph... |
OMIM:104200 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
C Syndrome |
|
Failure to thrive, Renal cortical cysts |
OMIM:211750 |
Senior-Loken Syndrome 9 |
|
Retinal dystrophy, Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Macular... |
OMIM:616629 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Bone spicule pigmentation of the retina, Obesity, Truncal obesity, Rod-cone ... |
OMIM:615986 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Renal phosphate wasting, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Weight loss, Hyperuricemia, H... |
ORPHA:199299 |
Hypotonia-Cystinuria Syndrome |
|
Nephrolithiasis, Cystinuria, Hypocalcemia, Failure to thrive, Cystine crystalluria |
OMIM:606407 |
Progressive Bifocal Chorioretinal Atrophy |
|
Myopia, Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy, Visual impairment |
ORPHA:75373 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Central scotoma, Nyctalopi... |
ORPHA:52427 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Macular atrophy, Nyctalopia, Reduced visua... |
OMIM:604393 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, N... |
OMIM:616108 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Shortened QT interval, Nephrolithiasis, Rena... |
ORPHA:99880 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia |
OMIM:616502 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... |
ORPHA:542323 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... |
OMIM:617304 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Hypocalcemia |
ORPHA:172 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Aortic valve stenosis, Polycystic kidney dys... |
OMIM:615382 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Retinal Cone Dystrophy 3B |
|
Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho... |
OMIM:610356 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Mildly reduced visual acuity, Vitreous floaters, Lattice retinal degeneration... |
OMIM:614292 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Urinary incontinence, Reduced visual acuity, Urinary urgency, Macular degeneration, Visual impair... |
OMIM:270700 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Choroidal neovascularization, Angina pectoris, Congestive heart fail... |
OMIM:264800 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... |
ORPHA:67042 |
Bardet-Biedl Syndrome 2 |
|
Dilated cardiomyopathy, Rod-cone dystrophy, Obesity, Retinal degeneration |
OMIM:615981 |
Mosaic Trisomy 1 |
|
Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst |
ORPHA:1692 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Macular atrophy... |
OMIM:180104 |
Cystinosis, Adult Nonnephropathic |
|
Photophobia, Elevated circulating creatinine concentration, Abnormal retinal morphology |
OMIM:219750 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Retinal dystrophy, Glomerular subepithelial immune-complex deposits, M... |
OMIM:616307 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Congestive heart failure, Myocarditis, Hypovolemia, Abnormal b... |
ORPHA:31824 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Retinal degeneration, Aceruloplasminemia, Decreased... |
OMIM:604290 |
Addison Disease |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Renal salt wasting, Decreased urinary potas... |
ORPHA:85138 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Failure to thrive, Hypercalcemia, Amblyopia |
ORPHA:476126 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ... |
OMIM:608836 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Hypertension, Hypoka... |
OMIM:617913 |
Meckel Syndrome 13 |
|
Retinopathy, Polycystic kidney dysplasia |
OMIM:617562 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst |
OMIM:614870 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Optic atrophy, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hyp... |
ORPHA:428 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration |
OMIM:602271 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual ac... |
OMIM:613843 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Familial Isolated Hypoparathyroidism |
|
Nephropathy, Arrhythmia, Hypocalcemia |
ORPHA:2238 |
Retinitis Pigmentosa 23 |
|
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Mild myopia, Absent ... |
OMIM:300424 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Nyctalopia, Chronic kidney disease, Obesity, Nephronophthisis, Retinal degeneration |
OMIM:615630 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Reduced visual acuity, Ph... |
OMIM:270200 |
Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Abnorm... |
ORPHA:552 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid concentration |
OMIM:614859 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Renal cortical cysts, Cerebral visual impairment |
OMIM:618548 |
Mucolipidosis Iv |
|
Photophobia, Visual impairment, Optic atrophy, Retinal degeneration |
OMIM:252650 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Paget Disease Of Bone 2, Early-Onset |
|
Hydroxyprolinuria, Hypercalcemia |
OMIM:602080 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal lymphocytic tubulitis, Choroidal neovascularization, Elevated circulating C-reactive protei... |
ORPHA:91500 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Nyctalopia, Visual ac... |
OMIM:618220 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Progressive visual loss, Retinal degeneration |
OMIM:256731 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Myopia, Retinal atrophy, Retinal pigment epithelial atrophy, Ring scotoma, Dec... |
OMIM:616959 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Cachexia, Renal hypoplasia/aplasia |
ORPHA:1438 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:180105 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:613983 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Elevated circulating creatinine concentration, Weight loss, Hematuria, Pulmonary ven... |
ORPHA:90060 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
OMIM:620138 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Failure to thrive, Multiple renal cysts, Renal cyst |
OMIM:614883 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Nyctalopia, Heart murmur, Renal cyst, Horseshoe kidney, Visual field defect, Rod-cone dystrophy, ... |
ORPHA:166035 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypomethioninemia, Pulmonary embolism, Hyperhomocystinemia, Retinal degeneration, Glomerulopathy,... |
ORPHA:79282 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Small for gestational age, Elevated circulating creatine kina... |
ORPHA:26793 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Macular coloboma, Macular atrophy, Geographic atrophy, High myopia, High hyper... |
OMIM:619260 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Tachycardia, Large central visual field defect, Blindness, Visual loss, Pigmen... |
ORPHA:79264 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... |
ORPHA:247353 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... |
ORPHA:228308 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:612095 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Stage 5 chronic kidney disease, Hypertension, Polycystic kidn... |
OMIM:618061 |
Poretti-Boltshauser Syndrome |
|
Myopia, Retinal atrophy, Retinal thinning, Retinal dystrophy, Amblyopia |
OMIM:615960 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Proximal tubulopathy, Hypoalbuminemia, Renal cyst |
OMIM:602579 |
Joubert Syndrome 7 |
|
Retinal dystrophy, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Proteinuria, Elevated circulating creatine kinase concentration, Urina... |
ORPHA:94093 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi... |
OMIM:210370 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Reduced visual acuity, Visual impairment, Elevated circulating creatine kinase concentration, Ret... |
OMIM:615249 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney ... |
ORPHA:2237 |
Joubert Syndrome 6 |
|
Blindness, Stage 5 chronic kidney disease, Nephronophthisis, Chorioretinal coloboma, Retinal dege... |
OMIM:610688 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypo... |
ORPHA:173 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:613617 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Pigmentary retinopathy, Progressive visual loss |
OMIM:164500 |
Gapo Syndrome |
|
Retinal arteriolar tortuosity, Photophobia, Optic atrophy, Tubulointerstitial fibrosis |
OMIM:230740 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Renal insufficiency, Recurrent urinary tract infections, Tachycardia, Elevated circulating... |
ORPHA:36234 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Albers-Schönberg Osteopetrosis |
|
Blindness, Optic atrophy, Hypocalcemia, Visual impairment |
ORPHA:53 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Renal cyst, Abnormality of vision, Chorioretinal coloboma, Visual i... |
ORPHA:2031 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Obesity, Nephrotic syndrome, Pigmentary retino... |
ORPHA:110 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:613581 |
Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Decreased circulating ceruloplasmin concentration, Decreased... |
ORPHA:48818 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Intermediate Osteopetrosis |
|
Visual impairment, Hypocalcemia, Optic atrophy from cranial nerve compression |
ORPHA:210110 |
Bardet-Biedl Syndrome 1 |
|
Myopia, Bone spicule pigmentation of the retina, Retinal dystrophy, Abnormality of the kidney, Hy... |
OMIM:209900 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Nyctalopia, Renal cyst, Horseshoe kidney, Hypoautofluorescent retinal lesion, Peripheral visual f... |
OMIM:250410 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Elevated amniotic fluid alpha-fetoprotein, Chordee, Renal dyspl... |
ORPHA:96179 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Pseudohypoparathyroidism, Type Ic |
|
Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration, ... |
OMIM:612462 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Myocardial infarction, P... |
ORPHA:447 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Nephr... |
ORPHA:653 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Cardiomyopathy, Vesicoureteral reflux, N... |
OMIM:130650 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v... |
OMIM:605549 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion |
ORPHA:289601 |
Macular Degeneration, Age-Related, 3 |
|
Drusen, Macular degeneration, Choroidal neovascularization |
OMIM:608895 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Congestive h... |
ORPHA:31826 |
Cone-Rod Dystrophy 10 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M... |
OMIM:610283 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Abnormal renal tubular resorption, Congestive heart failure, Dilated cardio... |
ORPHA:73224 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hypertension, Mitral regurgitation, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:173900 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Sjögren-Larsson Syndrome |
|
Myopia, Abnormality of retinal pigmentation, Photophobia, Macular degeneration, Retinopathy |
ORPHA:816 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst |
OMIM:231060 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Verheij Syndrome |
|
Renal agenesis, Optic nerve hypoplasia, Small for gestational age, Renal hypoplasia, Renal cyst |
OMIM:615583 |
Abetalipoproteinemia |
|
Retinopathy, Abetalipoproteinemia, Retinal degeneration |
OMIM:200100 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Myopia, Patchy atrophy of the retinal pigment ... |
OMIM:616468 |
Retinitis Pigmentosa 37 |
|
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac... |
OMIM:611131 |
Coach Syndrome 1 |
|
Optic disc pallor, Unilateral renal agenesis, Portal hypertension, Multiple small medullary renal... |
OMIM:216360 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Myocardial infarction, A... |
ORPHA:904 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Conjugated hyperbilirubinemia, Renal cyst, Hyperbilirubinemia, Abnormal serum bile ac... |
ORPHA:79303 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Rod-cone dystrophy, Optic atrophy, Renal cyst |
OMIM:601539 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Gitelman Syndrome |
|
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy... |
ORPHA:358 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Cerebral visual impairment, Large for gestational age, Hypercalci... |
OMIM:615398 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Retinal detachment, Hypospadias, Small for gestational age, Hypocalcemia, Micropenis, Failure to ... |
OMIM:607143 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Shock, Renal salt wasting, Long penis, Hyperkalemia, Hypovolemia, Elevated urinary ... |
ORPHA:90794 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Raynaud phenomenon, Tubulointerstitial fibrosis |
OMIM:607944 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst, Increased circulating very long-chain fatty acid concentration |
OMIM:614862 |
Osteopetrosis, Autosomal Recessive 1 |
|
Blindness, Optic atrophy, Hypocalcemia, Failure to thrive, Visual impairment |
OMIM:259700 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failure, Pigmentary retin... |
ORPHA:746 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Papilledema, Small for gestational age, Hypermetropia, Retinal calcif... |
OMIM:127000 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Failure to thrive, Hypoalbuminemia |
OMIM:608104 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Dahlberg-Borer-Newcomer Syndrome |
|
Nephropathy, Renal insufficiency, Hypocalcemia |
ORPHA:1563 |
Williams-Beuren Syndrome |
|
Nephrocalcinosis, Vesicoureteral reflux, Micropenis, Pelvic kidney, Portal hypertension, Renal hy... |
OMIM:194050 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Pancreatic cysts, Chronic kidney... |
OMIM:208500 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch... |
OMIM:601777 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Retinal atrophy, Photophobia, Macular degeneration, Hemeralopia, Dyschromatopsia, Visual impairment |
OMIM:617236 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Abnormality of vision, Failure to thrive, Optic atrophy, Retinal degeneration |
ORPHA:442835 |
Fibrous Dysplasia Of Bone |
|
Visual loss, Ovarian cyst, Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:618195 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Myopia, Recurrent urinary tract infections, Macular coloboma, Renal magnesium wasting, Rod-cone d... |
OMIM:248190 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena... |
ORPHA:411629 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Elevated circulating creatinine concentration, Systolic heart murmur, Renal ... |
OMIM:617478 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia, Obesity |
ORPHA:79445 |
Neuromuscular Oculoauditory Syndrome |
|
Elevated circulating creatine kinase concentration, Chorioretinal lacunae, Retinal pigment epithe... |
OMIM:618733 |
Joubert Syndrome 14 |
|
Morning glory anomaly, Cerebral visual impairment, Optic atrophy, Renal cyst, Intracranial hemorr... |
OMIM:614424 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Visual loss, Rod-cone dystrophy, Retinal atrophy |
OMIM:610127 |
Von Hippel-Lindau Disease |
|
Papilledema, Retinal detachment, Hypertensive retinopathy, Elevated urinary catecholamine level, ... |
ORPHA:892 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:26791 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... |
ORPHA:2970 |
Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Retinal degeneration |
OMIM:607016 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Optic nerve dysplasia, Pigmentary retinopathy, Aminoaciduria, Polycystic kidney dysplasia, Elevat... |
OMIM:214110 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, Failure to thrive, Hypocalcemic seizures |
OMIM:264700 |
Refractory Celiac Disease |
|
Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia |
ORPHA:1166 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Blindness, Abetalipoproteinemia, Bull's eye maculopathy, Nyctalopia, Optic atrophy, Peripheral vi... |
ORPHA:157850 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Retinal detachment, Optic disc pallor, Myopia, Hypospadias, Failure to thri... |
ORPHA:464311 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Retinopathy, Increased serum beta-hexosaminidase, Retinal degeneration |
OMIM:252600 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Nephrolithiasis, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Hypocalcemia... |
OMIM:601005 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Myocardial infarction, Elevated circulating creatinine concentration, Hemog... |
ORPHA:90038 |
Joubert Syndrome 18 |
|
Renal cyst, Horseshoe kidney |
OMIM:614815 |
Gracile Bone Dysplasia |
|
Micropenis, Failure to thrive, Hypocalcemia |
OMIM:602361 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst |
OMIM:613390 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Hematochezia, Hypoalbuminemia, Hypocalcemia, Hypoma... |
OMIM:618183 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... |
ORPHA:470 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria... |
ORPHA:18 |
Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Retinal degeneration |
OMIM:616211 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Gastrointestinal hemorrhage, Hypercalcemia, Weight loss, Hemato... |
ORPHA:913 |
Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Macular degene... |
OMIM:613767 |
Osteopetrosis With Renal Tubular Acidosis |
|
Retinal atrophy, Elevated circulating creatine kinase concentration, Abnormal retinal morphology,... |
ORPHA:2785 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Failure to thrive, Proteinuria, Renal cyst, Nephrotic syndrome, Cardiomyopathy, Pro... |
OMIM:212065 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
Joubert Syndrome 2 |
|
Renal insufficiency, Retinal dystrophy, Optic disc coloboma, Renal cyst, Chorioretinal coloboma, ... |
OMIM:608091 |
Sarcoidosis |
|
Renal insufficiency, Abnormal cardiac ventricular function, Blindness, Hypercalcemia, Portal hype... |
ORPHA:797 |
Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst |
OMIM:236500 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Micropenis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Cystic Echinococcosis |
|
Renal cyst, Weight loss, Membranous nephropathy, Ovarian cyst, Hyperbilirubinemia, Hepatic cysts |
ORPHA:400 |
Trisomy 13 |
|
Abnormal retinal vascular morphology, Abnormality of the ureter, Optic atrophy, Abnormality of vi... |
ORPHA:3378 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ... |
OMIM:233450 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP respon... |
ORPHA:94089 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomyopathy, Renal ... |
OMIM:614922 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Retinal degeneration |
OMIM:616896 |
Acute Interstitial Pneumonia |
|
Hypertension, Elevated circulating creatinine concentration, Elevated circulating C-reactive prot... |
ORPHA:79126 |
Cockayne Syndrome |
|
Urinary incontinence, Photophobia, Retinal arteriolar constriction, Retinal degeneration, Retinal... |
ORPHA:191 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Failure to thrive, Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia, Abnormal blood ion concentration, Tubulointerstitial neph... |
ORPHA:37042 |
Axial Spondylometaphyseal Dysplasia |
|
Retinal dystrophy, Peripheral retinal degeneration, Amblyopia, Optic atrophy, Reduced visual acui... |
ORPHA:168549 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Blindness, Renal agenesis, Optic atrophy, High... |
OMIM:220500 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Obesity, Cystic renal dysplasia, Rod-cone dystrophy, Hydronephrosis |
OMIM:615989 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, Failure to thrive, Hypocalcemic seizures |
ORPHA:289157 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Portal hypertension, Chronic kidney disease, Renal a... |
ORPHA:84081 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Hypocalcemia, Weight loss |
ORPHA:47 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Tricuspid regurgitation, Renal hypoplasia, Renal cyst, Pigmentary retinopat... |
OMIM:618460 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Hematemesis, Shortened QT interval, Nephrolithiasis, Hypercalciuria, Weight loss, ... |
ORPHA:652 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Urinary... |
OMIM:618885 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Abnormal chorioretinal morphology, Optic atrophy, Fail... |
ORPHA:912 |
Pearson Syndrome |
|
Renal insufficiency, Proteinuria, Small for gestational age, Cardiac conduction abnormality, Hypo... |
ORPHA:699 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, R... |
ORPHA:542306 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hydronephrosis, Micropenis, Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Constriction of peripheral visual field, Patchy atrophy of the retinal pigment epithelium, Progre... |
ORPHA:436245 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myopia, Blindness, Visual loss, Reduced visual acuity, Retinal degeneration |
ORPHA:168491 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Optic disc pallor, Myopia, Failure to thrive, Hypospadias, Small for gestat... |
ORPHA:464306 |
Cystinosis, Nephropathic |
|
Photophobia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophospha... |
OMIM:219800 |
Ppoma |
|
Gastrointestinal hemorrhage, Hypercalcemia, Weight loss |
ORPHA:97278 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Neurogenic bladder, Renal insufficiency, Hydroureter, Retinal atrophy, Unilate... |
ORPHA:90324 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
Congenital Disorder Of Glycosylation, Type Il |
|
Failure to thrive, Polycystic kidney dysplasia |
OMIM:608776 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Blindness, Abnormality of macular pigmentation |
ORPHA:1573 |
Spinocerebellar Ataxia Type 7 |
|
Cone/cone-rod dystrophy, Blindness, Congestive heart failure, Visual loss, Reduced visual acuity,... |
ORPHA:94147 |
Cancer-Associated Retinopathy |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Constriction of periphera... |
ORPHA:71505 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia |
ORPHA:90362 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal renal morphology, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephrosis |
ORPHA:1655 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Vipoma |
|
Hematochezia, Hypokalemia, Hypercalcemia, Weight loss |
ORPHA:97282 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Sinus tachycardia, Elevated circulating creatine kinase concentration, Hyp... |
ORPHA:466650 |
Double Outlet Right Ventricle |
|
Tachycardia, Heart murmur, Hypocalcemia, Pulmonic stenosis, Failure to thrive |
ORPHA:3426 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Myopia, Retinal atrophy, Blindness, Elevated circulating creatine kinase conc... |
OMIM:236670 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Hyper... |
OMIM:613159 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Renal cyst, Elevated circulating ribitol concentration |
ORPHA:488618 |
Senior-Loken Syndrome 3 |
|
Polyuria, Visual loss, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Ne... |
OMIM:606995 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Hypercalcemia, Weight loss |
ORPHA:97283 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Optic atrophy, Hypocalcemia, Visual impairment |
OMIM:618476 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Myopia, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, An... |
OMIM:177850 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
Cartilage-Hair Hypoplasia |
|
Abnormality of retinal pigmentation, Myopia, Heart block, Cardiomyopathy, Mucopolysacchariduria, ... |
ORPHA:175 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Failure to thrive, Retinal dystrophy, Pancreatic cysts, Rod-cone dystrophy,... |
OMIM:266920 |
Meckel Syndrome, Type 10 |
|
Micropenis, Hypospadias, Renal cyst |
OMIM:614175 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Polysyndactyly With Cardiac Malformation |
|
Hepatic cysts, Renal cyst |
OMIM:263630 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Prolonged QT interval, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic A... |
ORPHA:79444 |
Grfoma |
|
Gastrointestinal hemorrhage, Hypercalcemia, Weight loss |
ORPHA:97261 |
Sanjad-Sakati Syndrome |
|
Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Cerebral visual impairment, Myocarditis, Hyperkalemia, Oliguria, Hypertensi... |
ORPHA:544482 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Femoral-Facial Syndrome |
|
Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:1988 |
Marburg Hemorrhagic Fever |
|
Shock, Renal insufficiency, Tachycardia, Pericarditis, Elevated circulating creatine kinase conce... |
ORPHA:99826 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased urinary cortisol level, Renal angiomyolipoma, Hypercalcemia |
ORPHA:276152 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic aciduria |
ORPHA:445038 |
Knobloch Syndrome |
|
Retinal detachment, Myopia, Visual loss, Abnormal vitreous humor morphology, Macular degeneration... |
ORPHA:1571 |
Joubert Syndrome 39 |
|
Overweight, Retinal dystrophy, Polycystic kidney dysplasia |
OMIM:619562 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Hypercalcemia, Weight loss |
ORPHA:97280 |
Yellow Fever |
|
Shock, Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Supravent... |
ORPHA:99829 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia |
OMIM:131100 |
Joubert Syndrome 1 |
|
Optic disc pallor, Retinal dystrophy, Optic disc coloboma, Renal cyst, Retinal dysplasia, Chorior... |
OMIM:213300 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Failure to thrive in infancy |
OMIM:618829 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Multicystic kidney dysplasia, Blindness, Elevated circulating creatine kinase concentration, Opti... |
OMIM:615287 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
2P15P16.1 Microdeletion Syndrome |
|
Aortic regurgitation, Multicystic kidney dysplasia, Optic nerve hypoplasia, Optic atrophy, Mitral... |
ORPHA:261349 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Prolonged QT interval, Obesity, Hypertension, Hyperphosphatemia, Hypocalcemia, Low ur... |
ORPHA:79443 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, Renal cyst, Pol... |
OMIM:610199 |
Xq21 Microdeletion Syndrome |
|
Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,... |
ORPHA:1435 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia, Obesity, Low urinary cyclic AMP response to PTH administr... |
OMIM:103580 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatic cysts, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, Cystic rena... |
OMIM:615415 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Retinal degeneration |
OMIM:277700 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Obesity, Renal cyst, Arrhythmia, Vesicoure... |
ORPHA:261494 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Optic atrophy, Hypocalcemia, Hyperbilirubinemia, Severely reduced visual acuit... |
OMIM:259720 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst |
OMIM:614091 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Macular degeneration, Diplopia |
ORPHA:284289 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive, Hypospadias |
ORPHA:2115 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Myopia, Hypertriglyceridemia, Multiple small medullary renal cysts,... |
OMIM:118450 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Visual impairment, Patchy atrophy of the retinal pigment epi... |
ORPHA:1433 |
Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti... |
OMIM:605808 |
Meckel Syndrome, Type 5 |
|
Renal cyst |
OMIM:611561 |
Cranioectodermal Dysplasia 1 |
|
Myopia, Retinal dystrophy, Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidne... |
OMIM:218330 |
D-Bifunctional Protein Deficiency |
|
Visual loss, Failure to thrive, Renal cyst, Increased circulating very long-chain fatty acid conc... |
OMIM:261515 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Heart murmur, Intracranial hemorrhage, Hypocalcemia, Hyperbilirubinemia, Micropenis,... |
ORPHA:163979 |
Joubert Syndrome With Hepatic Defect |
|
Multicystic kidney dysplasia, Renal insufficiency, Portal hypertension, Optic disc coloboma, Chor... |
ORPHA:1454 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Macular degeneration, Neurogenic bladder |
OMIM:619780 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Aortic valve... |
ORPHA:261290 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Overweight, Obesity, Visual impairment, Retinal degeneration |
ORPHA:2822 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Large for gestational age, Dilatation of the renal pelvis, Horseshoe k... |
ORPHA:314588 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Myopia, Hypospadias, Hypercalcemia, Abnormality of the... |
ORPHA:821 |
Hurler Syndrome |
|
Aortic regurgitation, Heparan sulfate excretion in urine, Dermatan sulfate excretion in urine, Ca... |
OMIM:607014 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Caroli Disease |
|
Portal hypertension, Conjugated hyperbilirubinemia, Weight loss, Polycystic kidney dysplasia, Abn... |
ORPHA:53035 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Optic disc coloboma, Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Pulmonary... |
OMIM:618454 |
Mucopolysaccharidosis Type 3 |
|
Myopia, Blindness, Constriction of peripheral visual field, Heparan sulfate excretion in urine, N... |
ORPHA:581 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Retinal astrocytic hamartoma, Retinal hamartoma, ... |
ORPHA:805 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Small for gestational age, Renal cyst,... |
OMIM:257300 |
Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... |
OMIM:614527 |
Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Enlarged polycystic ovaries, Abnormality of the ureter, Renal cell c... |
ORPHA:2869 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Large for gestational age, Renal cyst, Retinal coloboma, Nephroblastoma, Bifid... |
OMIM:617107 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia |
OMIM:263210 |
Tuberous Sclerosis 2 |
|
Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Retinal hamart... |
OMIM:613254 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Hypermetropia, Mitral stenosis, Renal dysplasia, Renal cyst |
OMIM:617260 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Hypertension, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst, Reti... |
OMIM:193300 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia |
OMIM:619980 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... |
OMIM:113650 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Hypocalcemia, Weight loss |
OMIM:212750 |
Cornelia De Lange Syndrome 1 |
|
Myopia, Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Optic atrophy, Vesic... |
OMIM:122470 |
Tuberous Sclerosis 1 |
|
Wolff-Parkinson-White syndrome, Renal cyst, Achromatic retinal patches, Renal cell carcinoma, Ren... |
OMIM:191100 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
Meckel Syndrome, Type 2 |
|
Renal cyst |
OMIM:603194 |
Multiple Sulfatase Deficiency |
|
Mucopolysacchariduria, Retinal degeneration |
OMIM:272200 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Proteinuria, Hypoammonemia, Chorioretinal dysp... |
ORPHA:534 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Hypospadias, Retinal arteriolar tortuosity, Optic atrophy, Renal hyp... |
ORPHA:567 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Peripheral visual field loss, Retinal degeneration |
ORPHA:79244 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Reduced visual acuity |
OMIM:616722 |
Kniest Dysplasia |
|
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, High myopia,... |
ORPHA:485 |
Atelosteogenesis Type I |
|
Multiple renal cysts, Retinal dysplasia |
ORPHA:1190 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Craniofacioskeletal Syndrome |
|
Hydronephrosis, Hypospadias, Hypocalcemia |
OMIM:300712 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, S... |
OMIM:267010 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Nyctalopia, Optic atrophy, Renal hypoplasia, Abdominal... |
OMIM:619321 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Myopia, Macular atrophy, Optic disc coloboma, Reduced visual acuity, Chorioretinal coloboma |
OMIM:602499 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infection... |
ORPHA:731 |
Alveolar Echinococcosis |
|
Portal hypertension, Pancreatic cysts, Renal cyst, Weight loss, Budd-Chiari syndrome, Abnormal bl... |
ORPHA:284 |
Meckel Syndrome, Type 4 |
|
Renal cyst |
OMIM:611134 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
Meckel Syndrome, Type 3 |
|
Multicystic kidney dysplasia |
OMIM:607361 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Myopia, Retinal atrophy, Elevated circulating creatine kinase concentration, Optic atrophy, Hypop... |
OMIM:253280 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced visual acuity, Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive, Obesity |
ORPHA:261197 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Optic atrophy, Septo-optic dysplasia |
ORPHA:3301 |
Meckel Syndrome, Type 6 |
|
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney |
OMIM:612284 |
Cockayne Syndrome A |
|
Renal insufficiency, Retinal atrophy, Proteinuria, Retinal pigment epithelial mottling, Optic atr... |
OMIM:216400 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis |
ORPHA:261344 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts |
ORPHA:1318 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Macular degeneration, Choroidal neovascularization |
ORPHA:404451 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Hepatic cysts, Portal hypertension, Pancreatic cysts, Stage 5 chronic kidney... |
OMIM:208540 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Elevated circulating alpha-fetopro... |
OMIM:619991 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... |
OMIM:270400 |
Epidermal Nevus Syndrome |
|
Visual impairment, Polycystic kidney dysplasia |
ORPHA:35125 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Large central visual field defect, Abnormal fov... |
ORPHA:580 |
Joubert Syndrome 21 |
|
Optic atrophy, Megalopapilla, Renal cyst, Hyperechogenic kidneys, Retinopathy |
OMIM:615636 |
Syndromic Diarrhea |
|
Aortic regurgitation, Small for gestational age, Renal hypoplasia, Polycystic kidney dysplasia, A... |
ORPHA:84064 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Nephroblastoma, Obesity |
ORPHA:1001 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Recurrent urinary tract infections, Small for gestational age, Portal hypertension, Hypoalbuminem... |
OMIM:613658 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... |
OMIM:146510 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Retinal atrophy |
ORPHA:412057 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... |
ORPHA:2473 |
Bohring-Opitz Syndrome |
|
Retinal atrophy, Optic atrophy, High myopia, Urinary retention, Bradycardia, Severe failure to th... |
ORPHA:97297 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Multicystic kidney dysplasia |
OMIM:619774 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Tricuspid regurgitation, Portal hypertension, Ele... |
OMIM:619534 |
Hennekam Syndrome |
|
Hypocalcemia, Horseshoe kidney, Ectopic kidney |
ORPHA:2136 |
Trichothiodystrophy |
|
Myopia, Photophobia, Macular degeneration, Cardiomyopathy, Retinal degeneration |
ORPHA:33364 |
Atypical Werner Syndrome |
|
Renal neoplasm, Abnormality of retinal pigmentation, Hypertriglyceridemia, Telangiectasia of the ... |
ORPHA:79474 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... |
ORPHA:261318 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Hypermetropia, Retinal calcification, Hyperphosphatemia, Hypocalcemic tetany, Hypoca... |
ORPHA:93325 |
Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts, Congenital hypertrophy of retinal pigment epithelium |
ORPHA:220460 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypocalcemia, Hypophosphatemia, Pulmonary arterial hypertension, Optic nerve compression, Visual ... |
ORPHA:667 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Visual loss, Macular degeneration, Urinary incontinence |
ORPHA:247234 |
Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia, Cerebral visual im... |
OMIM:606232 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pancreatic cysts, Subconjunctival hemorrhage, Multiple renal cyst... |
ORPHA:464329 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Retinal dystrophy, Hypermetropia, Polycystic kidney dysplasia, Micropenis |
OMIM:263520 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Dilated cardiomyopathy, Optic atroph... |
ORPHA:1606 |
Caroli Syndrome |
|
Abnormality of the kidney, Portal hypertension, Conjugated hyperbilirubinemia, Hematemesis, Melen... |
ORPHA:480520 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias |
ORPHA:2075 |
Velocardiofacial Syndrome |
|
Retinal vascular tortuosity, Hypocalcemia |
OMIM:192430 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Displacement of the urethral meatus, Multicystic kidney dysplasia, Telangiect... |
ORPHA:1556 |
Cranioectodermal Dysplasia 2 |
|
Renal insufficiency, Hypermetropia, Renal cyst, Hypertension, Hyperbilirubinemia |
OMIM:613610 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Large for gestational... |
ORPHA:116 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:3015 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Telangiectasia of the skin, Renal hypoplasia/aplasia, Horseshoe kid... |
ORPHA:2092 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617866 |
Vici Syndrome |
|
Failure to thrive, Macular atrophy, Elevated circulating creatine kinase concentration, Congestiv... |
OMIM:242840 |
Mannosidosis, Alpha B, Lysosomal |
|
Retinal degeneration |
OMIM:248500 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Retinal hamartoma, Optic atr... |
ORPHA:538 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Horseshoe kidney, Multiple renal cysts, Hydronephrosis |
ORPHA:99776 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Large for gestational age, Retinal coloboma, Nep... |
ORPHA:500095 |
Isotretinoin-Like Syndrome |
|
Aortic valve stenosis, Hypocalcemia |
ORPHA:2306 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Small for gestational age, Dilatation of the renal pelvis, Stage 5 c... |
ORPHA:2044 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Micropenis, Retinal coloboma, Polycystic kidney dysplasia |
OMIM:616546 |
Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe kidney, Crossed... |
ORPHA:2538 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:85201 |
Meckel Syndrome 14 |
|
Mitral regurgitation, Tricuspid regurgitation, Polycystic kidney dysplasia |
OMIM:619879 |
Distal Deletion 12Q |
|
Failure to thrive in infancy, Ectopic kidney, Obesity, Polycystic kidney dysplasia, Vesicouretera... |
ORPHA:96149 |
Hajdu-Cheney Syndrome |
|
Failure to thrive, Hypospadias, Polycystic kidney dysplasia, Renal cyst |
OMIM:102500 |
Fryns Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:2059 |
Pagod Syndrome |
|
Multicystic kidney dysplasia, Sudden cardiac death, Renal hypoplasia/aplasia, Optic atrophy, Arrh... |
ORPHA:991 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Renal hypoplasia, Renal cyst |
OMIM:616300 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Amblyopia, Obesity, Ovarian cyst... |
OMIM:188400 |
Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation, Renal cyst |
OMIM:272460 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma |
OMIM:212550 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Renal hypoplasia, Renal cyst, Hypertension, Polycystic kidney dysplasia, Hyperbilirubinemia, Micr... |
OMIM:210710 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Vesicoureteral reflux, Optic atrophy, Hypospadias, Renal cyst |
OMIM:616975 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Visual impairment, Hypospadias, Optic nerve hypoplasia, Renal cyst |
ORPHA:495875 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
Schinzel-Giedion Syndrome |
|
Hypospadias, Failure to thrive in infancy, Abnormality of the ureter, Nephrolithiasis, Renal cyst... |
ORPHA:798 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Optic a... |
ORPHA:818 |
Acrocephalopolydactylous Dysplasia |
|
Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Fryns Syndrome |
|
Ureteral duplication, Renal agenesis, Hypospadias, Large for gestational age, Renal cyst, Hydrone... |
OMIM:229850 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Myopia, Sudden cardiac death, Pulmonary embolism, Retinal ha... |
ORPHA:744 |
Tetrasomy 9P |
|
Renal dysplasia, Myopia, Recurrent urinary tract infections, Pericarditis, Abnormal chorioretinal... |
ORPHA:3310 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Mitral stenosis, Hypospadias, Small for gestational age, Abnormal l... |
ORPHA:1596 |
Farber Disease |
|
Macular degeneration, Cherry red spot of the macula, Failure to thrive |
ORPHA:333 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Multicystic kidney dysplasia, Nephroblastoma, Abnormality of vision |
ORPHA:1052 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypocalcemic tetany, Recurrent urinary tract infections, Failure to thrive |
ORPHA:83471 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Renal phosphate wastin... |
ORPHA:289176 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Failure to thrive, Unilateral renal agenesis, Portal hypertension, Hypermetropia, Urinary urgency... |
OMIM:619503 |
Orofaciodigital Syndrome I |
|
Proteinuria, Pancreatic cysts, Hypertension, Ovarian cyst, Polycystic kidney dysplasia, Hepatic c... |
OMIM:311200 |
Hajdu-Cheney Syndrome |
|
Myopia, Hypospadias, Multiple renal cysts, Aortic valve stenosis, Mitral stenosis, Failure to thrive |
ORPHA:955 |
Ogden Syndrome |
|
Global glomerulosclerosis, Ventricular tachycardia, Premature ventricular contraction, Torsade de... |
OMIM:300855 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Pigmentary retinopathy, Optic atrophy, Urinary incontinence, Retinal degeneration |
OMIM:234200 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hydronephrosis, Optic nerve hypoplasia, Hypocalcemia |
OMIM:620330 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Visual impairment, Retinal degeneration |
OMIM:618479 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... |
ORPHA:857 |
Charge Syndrome |
|
Renal agenesis, Renal hypoplasia, Horseshoe kidney, Retinal coloboma, Hypocalcemia, Pulmonic sten... |
OMIM:214800 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hypertension, H... |
ORPHA:2750 |
Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Elevated amniotic fluid alp... |
OMIM:249000 |
Meckel Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Abnormal chorioretinal morphology, Pancreatic... |
ORPHA:564 |
Johanson-Blizzard Syndrome |
|
Hypospadias, Small for gestational age, Increased VLDL cholesterol concentration, Urethrovaginal ... |
OMIM:243800 |
Short-Rib Thoracic Dysplasia 12 |
|
Renal hypoplasia, Cystic renal dysplasia |
OMIM:269860 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, H... |
ORPHA:373 |
Trisomy 10P |
|
Small for gestational age, Multiple renal cysts, Abnormality of the kidney |
ORPHA:171929 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Small for gestational age, Pulmonic stenosis, Webbed penis, Micrope... |
ORPHA:97360 |
Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Failure to thrive |
OMIM:300373 |
Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia |
OMIM:200980 |
Cerebrocostomandibular Syndrome |
|
Horseshoe kidney, Renal cyst, Ectopic kidney |
OMIM:117650 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Optic ... |
ORPHA:709 |
Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Photophobia, Micropenis, Portal hype... |
ORPHA:64 |
Pmm2-Cdg |
|
Myopia, Pericarditis, Failure to thrive, Proteinuria, Angina pectoris, Reduced thyroxin-binding g... |
ORPHA:79318 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:1507 |
Townes-Brocks Syndrome 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Small for gestati... |
OMIM:107480 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Aortic valve stenosis, Hydronephrosis |
ORPHA:2308 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:1393 |
C Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive in infancy, Horseshoe kidney, Renal hypoplasia/ap... |
ORPHA:1308 |
Branchiooculofacial Syndrome |
|
Myopia, Renal agenesis, Hypospadias, Renal cyst, Retinal coloboma |
OMIM:113620 |
Cornelia De Lange Syndrome |
|
Myopia, Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Trun... |
ORPHA:199 |
Femoral-Facial Syndrome |
|
Renal agenesis, Abnormal renal collecting system morphology, Pulmonic stenosis, Polycystic kidney... |
OMIM:134780 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Photophobia... |
OMIM:308205 |
Roberts Syndrome |
|
Long penis, Polycystic kidney dysplasia |
ORPHA:3103 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hypospadias, Renal cyst, Duplication of renal pelvis, Cardiomyopathy, Arrhythmia, Pulmonic stenos... |
OMIM:312870 |
Fraser Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Blindness, Renal hypoplasia, Uret... |
ORPHA:2052 |
Say-Barber-Miller Syndrome |
|
Macular degeneration, Rod-cone dystrophy, Optic atrophy |
ORPHA:3132 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Myopia, Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Optic... |
ORPHA:261552 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis |
ORPHA:93271 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Myopia, Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Chord... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Myopia, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidne... |
ORPHA:2152 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:3404 |
Pallister-Killian Syndrome |
|
Myopia, Hypospadias, Obesity, Renal cyst, Aortic valve stenosis, Hypertrophic cardiomyopathy, Ren... |
OMIM:601803 |
Genitopatellar Syndrome |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:606170 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Amblyopia, Vesicoureteral reflux, U... |
OMIM:164210 |
Roberts-Sc Phocomelia Syndrome |
|
Long penis, Hypospadias, Polycystic kidney dysplasia, Horseshoe kidney |
OMIM:268300 |
Joubert Syndrome |
|
|
ORPHA:475 |