Danubian Endemic Familial Nephropathy |
|
Nephropathy |
OMIM:124100 |
Pentosuria |
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Abnormality of urine homeostasis |
OMIM:260800 |
Uridine-Cytidineuria |
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Elevated urinary uridine level, Elevated urinary cytidine |
OMIM:618477 |
Sedoheptulokinase Deficiency |
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Increased urinary sedoheptulose |
OMIM:617213 |
Well-Differentiated Liposarcoma |
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Abnormal renal physiology |
ORPHA:99971 |
Lipoprotein Glomerulopathy |
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Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Renal Glucosuria |
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Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
Senior-Loken Syndrome 4 |
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Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Nephronophthisis-Like Nephropathy 2 |
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Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Tubular l... |
OMIM:619468 |
Hypercalcemia, Infantile, 2 |
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Failure to thrive, Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary... |
OMIM:616963 |
Nephrotic Syndrome, Type 26 |
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Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
Nephrotic Syndrome, Type 10 |
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Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Focal Segmental Glomerulosclerosis 8 |
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Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Type 1 Diabetes Mellitus |
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Polydipsia, Polyphagia, Polyuria |
OMIM:222100 |
Hypercalcemia, Infantile, 1 |
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Failure to thrive, Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Medu... |
OMIM:143880 |
Nephronophthisis 1 |
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Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... |
OMIM:256100 |
Nephrotic Syndrome, Type 20 |
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Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Nephrotic Syndrome, Type 18 |
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Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
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Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 16 |
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Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Renal Dysplasia, Cystic, Susceptibility To |
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Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
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Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Nephrotic Syndrome, Type 24 |
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Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
Glomerulopathy With Fibronectin Deposits 2 |
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Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Renal Hypoplasia |
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Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Ochoa Syndrome |
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Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur... |
ORPHA:2704 |
Focal Segmental Glomerulosclerosis 7 |
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Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Lysine Malabsorption Syndrome |
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Renal tubular lysine transport defect, Hyperlysinuria |
OMIM:247950 |
Nephrotic Syndrome, Type 13 |
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Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
Polycystic Kidney Disease 7 |
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Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Nephronophthisis 3 |
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Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Nephronophthisis 4 |
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Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
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Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... |
OMIM:618314 |
Glomerulopathy With Fibronectin Deposits 1 |
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Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Cystinuria |
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Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Focal Segmental Glomerulosclerosis 10 |
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Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Hyperprolinemia Type 1 |
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Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
Familial Peripheral Male-Limited Precocious Puberty |
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Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... |
ORPHA:3000 |
Proteinuria, Chronic Benign |
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Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Focal Segmental Glomerulosclerosis 2 |
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Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Hypomagnesemia 3, Renal |
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Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... |
OMIM:248250 |
Focal Segmental Glomerulosclerosis 9 |
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Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
Senior-Loken Syndrome 3 |
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Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... |
OMIM:606995 |
Senior-Loken Syndrome 1 |
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Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Nephrotic Syndrome, Type 17 |
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Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
C3 Glomerulopathy 3 |
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Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Nephrotic Syndrome, Type 23 |
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Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
Teratoma, Pineal |
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Polydipsia, Polyuria |
OMIM:273120 |
Central Diabetes Insipidus |
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Anorexia, Weight loss, Polydipsia, Failure to thrive, Nocturia |
ORPHA:178029 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia, Weight loss |
ORPHA:95626 |
Hematuria, Benign Familial, 1 |
|
Hematuria, Thin glomerular basement membrane |
OMIM:141200 |
Hanac Syndrome |
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Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood urea nitrogen,... |
OMIM:613845 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
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Polydipsia, Failure to thrive, Megacystis, Polyuria |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
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Polydipsia, Failure to thrive, Megacystis, Polyuria |
OMIM:304800 |
Nephronophthisis 7 |
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Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
Hyperaldosteronism, Familial, Type Iii |
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Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Polydipsia |
OMIM:613677 |
Cryofibrinogenemia, Familial Primary |
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Hematuria, Transient nephrotic syndrome |
OMIM:123540 |
Nephronophthisis 11 |
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Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Nephronophthisis 12 |
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Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Nail-Patella-Like Renal Disease |
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Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
Nephrogenic Diabetes Insipidus |
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Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bladder, Hypovolemia, E... |
ORPHA:223 |
Renal Failure, Progressive, With Hypertension |
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Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis |
OMIM:161900 |
Nephrotic Syndrome, Type 21 |
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Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Nephrotic Syndrome, Type 15 |
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Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
Nephronophthisis 20 |
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Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Adenine Phosphoribosyltransferase Deficiency |
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Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... |
ORPHA:976 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Hypogonadism, Micropenis |
OMIM:615994 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy, Nephrocalcino... |
OMIM:620152 |
Iga Nephropathy, Susceptibility To, 3 |
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Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Megalencephaly |
|
Macroorchidism, Truncal obesity, Long penis |
ORPHA:2477 |
Nephrotic Syndrome, Type 4 |
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Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
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Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Irregular menstruation, Obesity, Truncal obesity, Polydipsia, Polyphagia |
OMIM:615986 |
Focal Segmental Glomerulosclerosis 6 |
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Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Hyperparathyroidism, Neonatal Severe |
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Hyperphosphaturia, Polyuria, Primary hyperparathyroidism, Hypercalciuria, Aminoaciduria, Polydips... |
OMIM:239200 |
Oligomeganephronia |
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Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... |
ORPHA:2260 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Apparent Mineralocorticoid Excess |
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Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Renal s... |
ORPHA:320 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
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Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
Hypersulfaturia |
|
Increased urinary sulfate, Nephrolithiasis |
OMIM:620372 |
Cystinosis |
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Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Aminoaciduria, ... |
ORPHA:213 |
Nephrotic Syndrome, Type 7 |
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Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Helix Syndrome |
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Renal insufficiency, Hyperparathyroidism, Polyuria, Nephrolithiasis, Hypocalciuria, Polydipsia |
OMIM:617671 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
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Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,... |
OMIM:613090 |
Gitelman Syndrome |
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Prolonged QT interval, Salt craving, Polyuria, Renal magnesium wasting, Ventricular tachycardia, ... |
OMIM:263800 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypertension, Hypocalciuria, Renal sodium w... |
OMIM:612780 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
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Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Hypert... |
OMIM:612925 |
Hyperglycinuria |
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Hyperglycinuria, Calcium oxalate nephrolithiasis |
OMIM:138500 |
Focal Segmental Glomerulosclerosis 5 |
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Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Bartter Syndrome, Type 3 |
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Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Hyperactivity, Anorexia, Aggressive behavior, Congestive heart failure, Abnormal fear-induced beh... |
ORPHA:3077 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Proximal tubulopathy, Polyuria |
OMIM:560000 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Increased blood urea nit... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Increased blood urea nit... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Increased blood urea nit... |
OMIM:612926 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Nephrotic syndrome |
ORPHA:69061 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Increased blood urea nit... |
OMIM:612924 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... |
ORPHA:8 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology |
OMIM:609886 |
Renal Hypoplasia, Bilateral |
|
Failure to thrive, Proteinuria, Small for gestational age, Cryptorchidism, Chronic kidney disease... |
ORPHA:97362 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypercalciuria, Medullary nephrocalcinosis, Polyuria |
OMIM:300971 |
Senior-Boichis Syndrome |
|
Polydipsia, Thickening of the tubular basement membrane, Portal hypertension, Aggressive behavior... |
ORPHA:84081 |
East Syndrome |
|
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Abnormal urinary electrolyte... |
ORPHA:199343 |
Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Increased blood urea nitrogen, H... |
OMIM:614817 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona... |
ORPHA:567548 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Hypercalciuria, Intracranial hemorrhage, H... |
ORPHA:251274 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Hyperactivity, Self-biting, Recurrent hand flapping, Congenital mac... |
OMIM:300624 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Failure to thrive, Proteinuria, Chronic kidney disease, Abnormal urine potas... |
ORPHA:411634 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria... |
ORPHA:18 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Hypertension, Palpitations, Polydipsia |
ORPHA:231580 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular filtrati... |
OMIM:162000 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Small for gestational age, Polyuria, Renal salt wasting, Increased urinary pota... |
OMIM:241200 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology |
ORPHA:839 |
Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Polydipsia, Renal hamartoma, Testicular neoplasm,... |
ORPHA:143 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Small for gestational age, Polyuria, Renal salt wasting, I... |
OMIM:601678 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu... |
OMIM:243910 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Obesity |
OMIM:300238 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Epistaxis, Nephrolithiasis, Intracranial hemorrhage, Hypertension, Second de... |
ORPHA:369929 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, A... |
ORPHA:93111 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Hyperactivity, Impulsivity |
OMIM:300143 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood urea nitrogen... |
ORPHA:94088 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... |
ORPHA:411629 |
Nephrotic Syndrome, Type 22 |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... |
OMIM:619155 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure |
OMIM:300886 |
Partington Syndrome |
|
Macroorchidism, Facial telangiectasia |
ORPHA:94083 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Pancreatic adenocarcinoma, Polydipsia, Renal hamartoma, Testicular neoplasm,... |
ORPHA:99880 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Polyphag... |
ORPHA:33543 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperphosphaturia, Elevated circulating growth hormone concentra... |
ORPHA:562 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
Atkin-Flaitz Syndrome |
|
Macroorchidism, Obesity |
ORPHA:1193 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:30925 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Fragile X Syndrome |
|
Macroorchidism, Self-injurious behavior, Attention deficit hyperactivity disorder |
ORPHA:908 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Truncal obesity, Attention deficit hyperactivity disorder, Polycystic ovaries |
ORPHA:284180 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Obesity, Bruxism, Macroorchidism, Male hypogonadism |
OMIM:300055 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Panhypophysitis |
|
Orthostatic hypotension, Decreased female libido, Reduced circulating prolactin concentration, Ad... |
ORPHA:95513 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Weight loss, Hypotension, Arrhythmia, A... |
ORPHA:188 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Obesity |
ORPHA:85286 |
Clark-Baraitser syndrome |
|
Macroorchidism, Obesity |
OMIM:300602 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Failure to thrive, Hypospadias |
OMIM:618874 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Dysuria, Cardiomyopathy, Male hy... |
ORPHA:3463 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Cryptorchidism, Obesity, Polydipsia |
ORPHA:3157 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Abnormality of t... |
ORPHA:537 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... |
ORPHA:261318 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Hematochezia, Polyuria, Renal dysplasia, Cryptorchidism |
OMIM:618183 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension |
OMIM:267430 |
Lujan-Fryns Syndrome |
|
Macroorchidism, Attention deficit hyperactivity disorder |
ORPHA:776 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Gitelman Syndrome |
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Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy... |
ORPHA:358 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
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Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology |
OMIM:614227 |
Genetic Recurrent Myoglobinuria |
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Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... |
ORPHA:99845 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Macroorchidism, Hyperactivity, Elevated circulating growth hormone concentration, Aggressive beha... |
ORPHA:85327 |
Erdheim-Chester Disease |
|
Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Congestive heart failure, Weight los... |
ORPHA:35687 |
Duplication Of Urethra |
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Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... |
ORPHA:237 |
Cryoglobulinemia, Familial Mixed |
|
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology |
OMIM:123550 |
Diffuse Cutaneous Systemic Sclerosis |
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Dyspareunia, Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria,... |
ORPHA:220393 |
Hyperuricemia, Hprt-Related |
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Renal insufficiency, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
Functioning Gonadotropic Adenoma |
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Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... |
ORPHA:91348 |
Hemorrhagic Fever-Renal Syndrome |
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Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Anorexia, Weight loss |
ORPHA:514 |
Pediatric-Onset Graves Disease |
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Hyperactivity, Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Polydip... |
ORPHA:525731 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
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Atrial flutter, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Macroorc... |
ORPHA:324410 |
Igg4-Related Retroperitoneal Fibrosis |
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Anorexia, Large vessel vasculitis, Retrograde ejaculation, Unilateral renal hypoplasia, Nephrotic... |
ORPHA:49041 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Anuria, Hemolytic-uremic syndrome, Hypertension, Increased blood urea nitrogen, Acute kidney injury |
OMIM:235400 |
Familial Hyperaldosteronism Type I |
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Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Hypertension, Polydipsia |
ORPHA:403 |
Cystinuria |
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Hematuria, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... |
ORPHA:542323 |
Cardiogenic Shock |
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Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Ethylene Glycol Poisoning |
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Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Congestive h... |
ORPHA:31826 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Epistaxis, Conges... |
ORPHA:727 |
Lassa Fever |
|
Shock, Menometrorrhagia, Oliguria, Dysphagia |
ORPHA:99824 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Anorexia, Cachexia, Myocarditis... |
ORPHA:3452 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Renal insufficiency, Portal hype... |
ORPHA:731 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism, Hyperactivity, Compulsive behaviors, Aggressive behavior |
OMIM:309520 |
Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Hyperactivity, Hypospadias, Abnormal eating behavior, Meg... |
ORPHA:209905 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Huntington Disease |
|
Abnormal libido, Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Addictive alcohol u... |
ORPHA:399 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Pituitary hypothyroidism, Bradycardia, Attention deficit hyperactivity disorder, Macroorchidism, ... |
ORPHA:90674 |
Acute Promyelocytic Leukemia |
|
Metrorrhagia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Weight loss, Hematuria, Addictive... |
ORPHA:520 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Impulsivity, Precocious puberty, Unilateral renal hypoplasia, Agitation, Attention deficit hypera... |
OMIM:619950 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Ventricular tachycardia, Oliguria, Cardiomyopathy, Hypotension, Arrhythmia |
ORPHA:159 |
Hyperoxaluria, Primary, Type Iii |
|
Hyperoxaluria, Calcium oxalate nephrolithiasis |
OMIM:613616 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Polyembryoma |
|
Macroorchidism, Irregular menstruation, Isosexual precocious puberty |
ORPHA:180229 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Precocious puberty, Long penis, Nephrocalcinosis, Cardiomyopathy, Polydipsia, I... |
ORPHA:769 |
Zttk Syndrome |
|
Aortic regurgitation, Absent gallbladder, Polyuria, Unilateral renal agenesis, Horseshoe kidney, ... |
OMIM:617140 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogo... |
ORPHA:91351 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Decreased renal tubular phosphate excretion, Nephrocalcinosis, Increased renal tubular phosphate ... |
OMIM:211900 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur |
ORPHA:1054 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Small for gestational age, Polyuria, Hypertension, Dysphagia, Pulmonary ... |
OMIM:606721 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Adrenal hyperplasia, Male pseudohermaphroditism, Macroorchidism, Abnormali... |
ORPHA:90790 |
Cholera |
|
Tachycardia, Abnormality of renal excretion, Hypovolemic shock, Hypotension, Acute kidney injury,... |
ORPHA:173 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic syndrome, Increas... |
OMIM:274150 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Colchicine Poisoning |
|
Renal insufficiency, Congestive heart failure, Myocarditis, Hypovolemia, Oliguria, Hypotension, C... |
ORPHA:31824 |
Sepsis In Premature Infants |
|
Tachycardia, Small for gestational age, Oliguria, Bradycardia, Hypotension, Reversible renal fail... |
ORPHA:90051 |
Marchiafava-Bignami Disease |
|
Addictive alcohol use, Urinary incontinence, Aggressive behavior |
ORPHA:221074 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Aggressive behavior, Adrenocorticotropic h... |
ORPHA:293987 |
Lujo Hemorrhagic Fever |
|
Shock, Renal insufficiency, Myocarditis, Oliguria, Subconjunctival hemorrhage, Bradycardia, Hypot... |
ORPHA:319213 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery pressure, Feta... |
OMIM:619351 |
Carney Complex |
|
Increased body weight, Leydig cell neoplasia, Ovarian serous cystadenoma, Abnormal sperm motility... |
ORPHA:1359 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Chr... |
ORPHA:447 |
Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Myocarditis, Oliguria, Hypertension, Acute kidney injury, Nephrotic range proteinuria, De... |
ORPHA:544482 |
Proteus Syndrome |
|
Thymus hyperplasia, Sudden cardiac death, Pulmonary embolism, Testicular neoplasm, Enlarged polyc... |
ORPHA:744 |
Porphyria Cutanea Tarda |
|
Increased urinary porphobilinogen, Addictive alcohol use, Stage 5 chronic kidney disease, Porphyr... |
ORPHA:101330 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Myocardial infarction, Hemoglobinuria, Hypertension, Acute kidney injury |
ORPHA:90038 |
Aspartylglucosaminuria |
|
Macroorchidism, Mitral regurgitation, Aspartylglucosaminuria |
OMIM:208400 |
Isolated Osteopoikilosis |
|
Addictive alcohol use, Abnormality of the kidney |
ORPHA:166119 |
Aspartylglucosaminuria |
|
Macroorchidism, Aspartylglucosaminuria |
ORPHA:93 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion |
ORPHA:289176 |
Yellow Fever |
|
Shock, Renal insufficiency, Anuria, Supraventricular arrhythmia, Hematemesis, Pancreatic hyperpla... |
ORPHA:99829 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... |
ORPHA:57777 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Sinus tachycardia, Oliguria, ST segment depression, Hypotension, Abnormal ... |
ORPHA:466650 |
Acute Lung Injury |
|
Shock, Addictive alcohol use, Diffuse alveolar hemorrhage |
ORPHA:178320 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Addictive alcohol use, Hypotension |
ORPHA:36238 |
Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use |
ORPHA:399180 |
Herpes Simplex Virus Encephalitis |
|
Addictive alcohol use |
ORPHA:1930 |