Hyperglycinuria |
|
Hyperglycinuria, Calcium oxalate nephrolithiasis |
OMIM:138500 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Hypersulfaturia |
|
Increased urinary sulfate, Nephrolithiasis |
OMIM:620372 |
Danubian Endemic Familial Nephropathy |
|
Nephropathy |
OMIM:124100 |
Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss |
|
Renal tubular acidosis, Nephrolithiasis |
OMIM:267300 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... |
OMIM:162000 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Hypouricemia, Renal, 2 |
|
Nephrolithiasis |
OMIM:612076 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Xanthinuria, Type I |
|
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis |
OMIM:278300 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Senior-Loken Syndrome 4 |
|
Polyuria, Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Anemia |
OMIM:606996 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
Hyperoxaluria, Primary, Type Iii |
|
Hyperoxaluria, Calcium oxalate nephrolithiasis |
OMIM:613616 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... |
OMIM:143880 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Nephrolithiasis |
OMIM:301060 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... |
OMIM:616963 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ... |
ORPHA:97362 |
Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Nephrolithiasis |
OMIM:222900 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... |
OMIM:601198 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... |
ORPHA:2260 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia, Nephrolithiasis, Cystinuria |
ORPHA:163690 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Cystathioninuria |
|
Cystathioninemia, Cystathioninuria, Nephrolithiasis |
ORPHA:212 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Hashimoto thy... |
ORPHA:49041 |
5-Oxoprolinase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Enterocolitis, Prolinuria, Calcium oxalate nephr... |
OMIM:260005 |
Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Renal dysplasia |
OMIM:610896 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Nephrolithiasis, Decreased fertili... |
ORPHA:1816 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Cryptorchidism, Pyelonephritis, Oligozoospermia, Nephritis, Renal dyspl... |
OMIM:314300 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Cystinuria, Long eyelashes, Hypocalcemia, Failure to thrive |
ORPHA:163693 |
Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chronic ... |
OMIM:613845 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Hyperlysinuria |
OMIM:247950 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Hyperuricemia... |
ORPHA:411536 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri... |
ORPHA:79233 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... |
OMIM:248250 |
Orthostatic Hypotension 2 |
|
Anemia, Decreased glomerular filtration rate |
OMIM:618182 |
Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612925 |
Saccharopinuria |
|
Citrullinuria, Hyperlysinuria, Histidinuria, Saccharopinuria |
OMIM:268700 |
Dibasic Amino Aciduria I |
|
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria |
OMIM:222690 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... |
OMIM:613388 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... |
OMIM:618314 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased... |
OMIM:618061 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Hyperuricemia, Hprt-Related |
|
Renal insufficiency, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612926 |
Cystinuria |
|
Hematuria, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
Idiopathic Hypercalciuria |
|
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... |
ORPHA:2197 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Abnormal hair morphology, Aminoaciduria |
OMIM:242550 |
Hyperprolinemia, Type Ii |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:239510 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cy... |
ORPHA:18 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612924 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Sebocystomatosis |
|
Nephrolithiasis |
ORPHA:841 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh... |
OMIM:619827 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... |
OMIM:613090 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Hypouricemia, Xanthin... |
ORPHA:3467 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria, Premature ovarian insufficiency |
ORPHA:2278 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Hypogonadism, Renal cyst |
OMIM:615987 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis, Low posterior hairline |
ORPHA:1450 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Failure to thrive in infancy, Aggressive behavior, Chronic kidney disease, Tubuloint... |
ORPHA:488627 |
Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
ORPHA:42062 |
Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:242600 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis |
OMIM:618913 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Hyperuricemia, Uric acid nep... |
ORPHA:411543 |
Threoninemia |
|
Hyperthreoninuria |
OMIM:273770 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Hematuria, Nephropathy, Nephrolithiasis |
ORPHA:2196 |
Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... |
OMIM:609583 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... |
ORPHA:228308 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology |
OMIM:602114 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia... |
ORPHA:470 |
Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
Nephrosialidosis |
|
Renal insufficiency, Pericardial effusion, Nephrotic syndrome, Nephropathy, Ascites |
OMIM:256150 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Senior-Loken Syndrome |
|
Premature ovarian insufficiency, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrono... |
ORPHA:3156 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Nephrolithiasis, Cystinuria, Long eyelashes, Hypocalcemia, Failure to thrive, Cystine... |
OMIM:606407 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Renal interst... |
ORPHA:91500 |
Camptodactyly 1 |
|
Increased urinary taurine |
OMIM:114200 |
Macdermot-Winter Syndrome |
|
Frontal upsweep of hair, Low anterior hairline, Hydronephrosis, Highly arched eyebrow |
OMIM:247990 |
Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
Central Diabetes Insipidus |
|
Hyponatremia, Anorexia, Weight loss, Polydipsia, Failure to thrive, Nocturia |
ORPHA:178029 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Self-injurious behavior, Hyperactivity, Nephrolithiasis, Aggressive behavior |
OMIM:620023 |
Camptodactyly-Taurinuria Syndrome |
|
Increased urinary taurine, Aminoaciduria |
ORPHA:1325 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Glycogen Storage Disease Ia |
|
Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Hyperuric... |
OMIM:232200 |
Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
Crome Syndrome |
|
Renal tubular epithelial necrosis |
OMIM:218900 |
Glycogen Storage Disease Ib |
|
Proteinuria, Splenomegaly, Hyperlipidemia, Neutropenia, Nephrolithiasis, Gout, Focal segmental gl... |
OMIM:232220 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polyuria, Megacystis, Hypernatremia, Polydipsia, Failure to thrive |
OMIM:125800 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polyuria, Megacystis, Hypernatremia, Polydipsia, Failure to thrive |
OMIM:304800 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Nephrolithiasis |
ORPHA:1837 |
Dent Disease 2 |
|
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... |
OMIM:300555 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Diaminopentanuria |
|
Hyperlysinuria, Cystinuria |
OMIM:222350 |
Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease |
OMIM:615995 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Hydroxylysinuria |
|
Hyperlysinuria |
OMIM:236900 |
Hyperparathyroidism 4 |
|
Nephrolithiasis |
OMIM:617343 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... |
ORPHA:35710 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... |
OMIM:619113 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Hyper-Beta-Alaninemia |
|
Increased urinary taurine |
OMIM:237400 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
Hyperprolinemia, Type I |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:239500 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia |
OMIM:612286 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
Flotch Syndrome |
|
Sparse eyelashes, Abnormal eyelash morphology, Nephrolithiasis, Inflammatory abnormality of the e... |
ORPHA:2045 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Failure to thrive, Tubulointerstitial fibrosis |
OMIM:263000 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Generalized aminoaciduria |
OMIM:606528 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... |
OMIM:606995 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia |
OMIM:612287 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Re... |
OMIM:615993 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Hypercalciuria, Aminoacidur... |
OMIM:239200 |
Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Highly arched eyebrow, Synophry... |
OMIM:618161 |
Hereditary Coproporphyria |
|
Dark urine, Extension of hair growth on temples to lateral eyebrow, Porphyrinuria, Increased urin... |
ORPHA:79273 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:567548 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Hydrops fetalis, Oligohydramnios, Nephropathy,... |
ORPHA:1909 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Self-injurious behavior... |
OMIM:300322 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency |
OMIM:615991 |
Nephronophthisis 15 |
|
Nephronophthisis |
OMIM:614845 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Recurrent pancreatitis, Polycysti... |
OMIM:145001 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
Indolylacroyl Glycinuria With Mental Retardation |
|
Hyperglycinuria |
OMIM:243050 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Nephrolithiasis, Weight loss, Arth... |
OMIM:617321 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
Phosphohydroxylysinuria |
|
Phosphohydroxylysinuria |
OMIM:615011 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Edema, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis... |
OMIM:614131 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Renal insufficiency, Dehydration |
ORPHA:28 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Blue urine |
ORPHA:94086 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Thrombocytopenia, Leukocytosis, Chronic kidne... |
ORPHA:340 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Galactosemia Iii |
|
Aminoaciduria, Galactosuria |
OMIM:230350 |
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria |
OMIM:204750 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Combined Malonic And Methylmalonic Aciduria |
|
Methylmalonic aciduria, Dehydration |
OMIM:614265 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Camos Syndrome |
|
Nephrotic syndrome, Renal insufficiency |
ORPHA:83472 |
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity |
|
Homocystinuria |
OMIM:236250 |
Homocarnosinosis |
|
Carnosinuria |
OMIM:236130 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Hydroureter, Nephrolithiasis |
OMIM:617219 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis, Thrombocytopenia |
ORPHA:3327 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increased blood ur... |
ORPHA:251004 |
Hand-Foot-Genital Syndrome |
|
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... |
OMIM:140000 |
Stimmler Syndrome |
|
Aminoaciduria |
ORPHA:3199 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Hydroxykynureninuria |
|
Aminoaciduria |
OMIM:236800 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Gastritis, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dy... |
ORPHA:31826 |
3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria |
OMIM:236795 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Schistocytosis, Elevat... |
OMIM:274150 |
Gracile Syndrome |
|
Aminoaciduria |
OMIM:603358 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Failure to thrive, Anorexia, Functional abnormality of the blad... |
ORPHA:223 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria |
ORPHA:417 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Pedal edema, Nephrotic syndrome, Abnormal glome... |
ORPHA:84090 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... |
OMIM:615862 |
Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy, Anemia |
ORPHA:100024 |
Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ... |
OMIM:263200 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneu... |
OMIM:613779 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so... |
ORPHA:320 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Nail dystrophy, Nephritis... |
OMIM:609057 |
Teratoma, Pineal |
|
Polydipsia, Polyuria |
OMIM:273120 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Increased circulating beta-C-terminal telopeptide concentration, Hypercalciuri... |
ORPHA:157215 |
Valinemia |
|
Valinuria |
OMIM:277100 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerula... |
OMIM:615573 |
Hyperlysinemia, Type I |
|
Hyperlysinuria |
OMIM:238700 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Micropenis |
OMIM:615994 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut... |
ORPHA:368 |
Complement Factor H Deficiency |
|
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... |
OMIM:609814 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis |
OMIM:619365 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormal blood ion concentration, Renal cyst, Gastrointestinal inflammation, ... |
ORPHA:79404 |
Lessel-Kubisch Syndrome |
|
Renal insufficiency, Sparse pubic hair, Renal hypoplasia, Premature graying of hair, Hypogonadism |
OMIM:618681 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Hyperaldosteronism, Familial, Type Iii |
|
Polyuria, Hypercalciuria, Hypokalemia, Polydipsia, Decreased circulating renin level |
OMIM:613677 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... |
OMIM:300554 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Galactose Epimerase Deficiency |
|
Aminoaciduria |
ORPHA:79238 |
Helix Syndrome |
|
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria, Poly... |
OMIM:617671 |
Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Elevated urinary formiminoglutamic acid level |
OMIM:229100 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Dehydration |
ORPHA:79159 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Gout,... |
OMIM:232240 |
Glycogen Storage Disease V |
|
Dark urine, Myoglobinuria |
OMIM:232600 |
Senior-Boichis Syndrome |
|
Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise... |
ORPHA:84081 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Harderoporphyria |
|
Increased urinary porphobilinogen, Red urine, Increased urine harderoporphyrin level |
OMIM:618892 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia |
OMIM:604273 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Hartnup Disorder |
|
Neutral hyperaminoaciduria |
OMIM:234500 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Hypokalemia, Hypophos... |
ORPHA:213 |
Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria |
ORPHA:98895 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Calcium oxalate nephrolithiasis |
OMIM:248000 |
Image Syndrome |
|
Hypogonadism, Cryptorchidism, Hypospadias, Hydronephrosis |
ORPHA:85173 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... |
OMIM:603278 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria |
OMIM:615158 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria |
OMIM:204730 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Myh9-Related Disease |
|
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... |
ORPHA:182050 |
Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Eczema, Skin rash, Ectopic kidney, Sparse eyebrow, Abnormal ... |
ORPHA:634 |
Cerebral Creatine Deficiency Syndrome 3 |
|
Organic aciduria |
OMIM:612718 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Nephrolithiasis, Elevated circulating creatine kinase concentration, Dysphagia |
ORPHA:352447 |
Hemolytic Anemia, Congenital, X-Linked |
|
Dark urine |
OMIM:301015 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hypocalciuria, Increased circu... |
OMIM:612780 |
Alkaptonuria |
|
Arthritis, Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate |
OMIM:203500 |
Hartnup Disease |
|
Skin rash, Abnormal urinary color, Infectious encephalitis, Neutral hyperaminoaciduria |
ORPHA:2116 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Nephrocalcinosis, Distal renal tubular acidosis, Hypercalciuria, Dehydration |
OMIM:602722 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Aminoaciduria, Lacticaciduria, Pancreatitis |
OMIM:619386 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Alopecia, Renal insufficiency, Proteinuria, Myositis, Skin rash, Discoid lupus rash, ... |
ORPHA:93552 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... |
OMIM:145981 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic... |
OMIM:600995 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia, Weight loss |
ORPHA:95626 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Hyperbiliverdinemia |
|
Green urine |
OMIM:614156 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Proximal tubulopathy |
OMIM:612075 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Glycogen Storage Disease Iv |
|
Tubulointerstitial fibrosis |
OMIM:232500 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity |
OMIM:619351 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Stiff Skin Syndrome |
|
Abnormal circulating lipid concentration, Nephrolithiasis |
ORPHA:2833 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th... |
OMIM:152700 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Obesity, Truncal obesity, Polydipsia, Polyphagia |
OMIM:615986 |
Gitelman Syndrome |
|
Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Hypocalciuria, Increased ... |
OMIM:263800 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Hypogonadism, Renal hypoplasia |
OMIM:615996 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Aminoaciduria |
ORPHA:147 |
Dubin-Johnson Syndrome |
|
Abnormal urinary color |
ORPHA:234 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Sparse axillary hair, Unilateral renal agenesis, Sparse pubic hair, Renal hy... |
OMIM:181270 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... |
OMIM:236730 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Increased level of L-pyroglutamic acid in urine |
OMIM:231900 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria |
ORPHA:833 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria, White hair |
OMIM:250900 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia, Hypercalciuria, Nephrolithiasis, Hypocalciuria, Pancreatitis |
OMIM:145980 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
East Syndrome |
|
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circu... |
ORPHA:199343 |
Jeune Syndrome |
|
Nephropathy, Renal insufficiency, Nephronophthisis |
ORPHA:474 |
Hypertryptophanemia |
|
Tryptophanuria |
OMIM:600627 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Skin rash |
ORPHA:90036 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria |
ORPHA:882 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glyco... |
OMIM:613404 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuri... |
ORPHA:99845 |
Cold Agglutinin Disease |
|
Abnormal urinary color |
ORPHA:56425 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Proximal tubulopathy, Polyuria |
OMIM:560000 |
Nephronophthisis 19 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... |
OMIM:616217 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Myoglobinuria, Dehydration |
OMIM:602199 |
Nephrotic Syndrome, Type 15 |
|
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Proteinuria, Elevated circulating C-reactive protein concentration, Asplenia, I... |
OMIM:614034 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal phosph... |
OMIM:241530 |
Joubert Syndrome 15 |
|
Micropenis, Nephronophthisis |
OMIM:614464 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color |
ORPHA:90037 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Hypogonadism, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:616629 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Small for gestational age, Urolithiasis, Gout, Hyperuricosuria,... |
OMIM:300661 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse scalp hair, Renal insufficiency, Proteinuria, Sparse eyelashes, Sparse eyebrow, Fine hair,... |
OMIM:614748 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic kidney d... |
ORPHA:79147 |
Plasminogen Deficiency, Type I |
|
Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis |
OMIM:217090 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Dehydration, Renal tubular dysfunction, Enuresis, Glycosuria,... |
ORPHA:69076 |
Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
8P23.1 Duplication Syndrome |
|
Hydronephrosis, Highly arched eyebrow |
ORPHA:251076 |
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin... |
OMIM:618384 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology |
OMIM:609886 |
Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperlysinuria |
OMIM:238750 |
Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria |
ORPHA:33574 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Hemoglobinuria |
ORPHA:90035 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Parathyroid Carcinoma |
|
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hyp... |
ORPHA:143 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Eczema, Anorexia, Hyperammonemia, Weight loss, Keratoconjunctivitis, Organic aciduria, ... |
ORPHA:79242 |
Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia |
OMIM:236110 |
Galactosemia I |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Albuminuria, Aminoaciduria, Gala... |
OMIM:230400 |
Listeriosis |
|
Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Endocarditis, Pyelonep... |
ORPHA:533 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Absent urinary urothione... |
OMIM:252150 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Aminoaciduria |
OMIM:609560 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental ... |
OMIM:610725 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Edema, Chronic kidney disease, Stage 5 chronic kidney d... |
OMIM:615244 |
Transient Neonatal Diabetes Mellitus |
|
Abnormality of the urinary system, Abnormality of the kidney, Dehydration |
ORPHA:99886 |
Congenital Myopathy 19 |
|
Cryptorchidism, Renal atrophy, Hydronephrosis |
OMIM:618578 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Patent ductus arteriosus, Methylmalonic aciduria, Hype... |
OMIM:614857 |
Glutathione Synthetase Deficiency |
|
Increased level of L-pyroglutamic acid in urine |
OMIM:266130 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Small for gestational age, Renal sa... |
OMIM:241200 |
Sulfite Oxidase Deficiency, Isolated |
|
Sulfocysteinuria, Eczema, Increased urinary sulfite level, Fine hair, Decreased urinary sulfate |
OMIM:272300 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:85285 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal salt wasting, ... |
OMIM:601678 |
Thyrocerebroretinal Syndrome |
|
Nephritis, Thrombocytopenia |
OMIM:274240 |
Fanconi Anemia, Complementation Group O |
|
Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydronephrosis |
OMIM:613390 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... |
ORPHA:94059 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti... |
ORPHA:447 |
Argininemia |
|
Diaminoaciduria |
ORPHA:90 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic aciduria, Methylmalonic aciduria, Dehydration |
ORPHA:289504 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Muscular Dystrophy, Cardiac Type |
|
Carnosinuria |
OMIM:309930 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Attrv30M Amyloidosis |
|
Nephropathy, Impotence, Abnormal renal physiology, Weight loss |
ORPHA:85447 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Renal cyst |
ORPHA:79303 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Renal insufficiency, Pancreatitis, Dehydration |
ORPHA:79312 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Head titubation, Aminoaciduria |
OMIM:250620 |
Glycine Encephalopathy 1 |
|
Hyperglycinuria |
OMIM:605899 |
Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Recurrent pneumonia, Pyelonephritis, Urethral diverticulum, M... |
ORPHA:90349 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Oral-pharyngeal dysphagia, Gastrointestinal inflammation, Conjunctivitis, Neutropenia, ... |
ORPHA:95455 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency |
OMIM:249660 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tubular atro... |
OMIM:208085 |
Glutathionuria |
|
Eczema, Urinary incontinence, Glutathionuria |
OMIM:231950 |
Saccharopinuria |
|
Citrullinuria, Hyperlysinuria, Cystinuria |
ORPHA:3124 |
Acrorenal Syndrome |
|
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia |
ORPHA:971 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoaciduria, Hypoalbuminemia... |
OMIM:277900 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia, Polydipsia, Nephrolithiasis |
ORPHA:369929 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Thrombocytopenia, Synophrys, Recurrent pneumonia, Low anterior hairline, Hirsutism, ... |
OMIM:617303 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... |
OMIM:619902 |
Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Chronic mucocutaneous candidiasis, Hyperphosphatemia, Conjunctivitis, Hy... |
ORPHA:36913 |
Nephrotic Syndrome, Type 22 |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... |
OMIM:619155 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile |
ORPHA:391417 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Hypocalcemia, Nephrolithiasis, Hypophosphatemia |
ORPHA:93160 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Tubulointerstitial fibrosis... |
ORPHA:79259 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria |
OMIM:616026 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Abnormal renal corticomedullary differentiation |
OMIM:616733 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, Aminoaciduria, Hypogonadism, Hypoplastic nipples |
OMIM:273400 |
Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Thrombocytopenia, Weight loss, Hematuria, Anemia |
ORPHA:69077 |
Leukonychia Totalis |
|
Abnormal eyelash morphology, Blepharitis, Nephrolithiasis |
ORPHA:2387 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... |
ORPHA:411629 |
Lipoyltransferase 1 Deficiency |
|
Alaninuria, Hyperglutaminuria, Lacticaciduria |
OMIM:616299 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Renal insufficiency, Pancreatitis, Dehydration |
ORPHA:27 |
Pulmonary Blastoma |
|
Recurrent pneumonia, Weight loss |
ORPHA:64741 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Increased urinary porphobilinogen, Purple urine |
ORPHA:100924 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color |
ORPHA:90033 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Methylmalonic aciduria, Dehydration |
OMIM:251120 |
Dermotrichic Syndrome |
|
Aminoaciduria, Nail dystrophy |
ORPHA:99688 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hyp... |
ORPHA:99880 |
Marcus-Gunn Syndrome |
|
Nephrolithiasis |
ORPHA:91412 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... |
OMIM:301068 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Generalized hirsutism, Methylmalonic aciduria |
ORPHA:1933 |
Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... |
ORPHA:439232 |
Joubert Syndrome 3 |
|
Highly arched eyebrow, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
Microvillus Inclusion Disease |
|
Nephrocalcinosis, Abnormal renal physiology, Dehydration |
ORPHA:2290 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Alopecia, Acne, Hyperlipidemia, Nephrolithiasis, Increased body... |
ORPHA:189427 |
Majeed Syndrome |
|
Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Microscop... |
ORPHA:77297 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
Lamellar Ichthyosis |
|
Chronic otitis media, Renal insufficiency, Dehydration, Erythroderma |
ORPHA:313 |
Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Acute kidney injury, Proteinuria |
ORPHA:2134 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Pituitary Adenoma 4, Acth-Secreting |
|
Nephrolithiasis, Obesity, Hypokalemia, Abdominal obesity, Hirsutism |
OMIM:219090 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
Sarcosinemia |
|
Hypersarcosinuria |
ORPHA:3129 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cryptorchidism, Frontal upsweep of hair, Hydronephrosis |
OMIM:619797 |
Distal Duplication 6P |
|
Abnormal hair quantity, Abnormal eyelash morphology, Renal hypoplasia, Fine hair, Abnormality of ... |
ORPHA:1745 |
6P22 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:251046 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Anorexia, Leukocytosis, Oliguria, Weight loss, Lymphocytosis, Hypochrom... |
ORPHA:514 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Hypercalcemia, Weight loss |
ORPHA:97289 |
Hepatic Veno-Occlusive Disease |
|
Renal insufficiency, Ascites |
ORPHA:890 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Homocystinuria, Methylmalonic aciduria |
OMIM:309541 |
Meier-Gorlin Syndrome 8 |
|
Unilateral renal hypoplasia, Nephroptosis, Bilateral cryptorchidism |
OMIM:617564 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine |
OMIM:271980 |
Diffuse Neonatal Hemangiomatosis |
|
Renal insufficiency, Polyhydramnios, Renal hypoplasia/aplasia, Hydrops fetalis, Ascites |
ORPHA:2123 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria |
ORPHA:664 |
Chronic Hiccup |
|
Dehydration |
ORPHA:396 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Recurrent pneumonia, Polyhydramnios, Dehydration |
OMIM:616069 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Dysmenorrhea, Sparse eyebrow, Early balding, Nephrolithiasis, Oligozo... |
ORPHA:2067 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
Retinitis Pigmentosa 59 |
|
Cryptorchidism, Renal insufficiency, Cystoid macular edema, Micropenis |
OMIM:613861 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myoglobinuria, Red-brown urine |
ORPHA:228305 |
Histidinuria Due To A Renal Tubular Defect |
|
Impaired histidine renal tubular absorption, Histidinuria |
OMIM:235830 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Impaired histidine renal tubular absorption, Histidinuria |
ORPHA:2158 |
Idiopathic Achalasia |
|
Decreased prealbumin level, Recurrent aspiration pneumonia, Dysphagia, Weight loss |
ORPHA:930 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Failure to thrive, Elevated circulating creatinine concentration, Increased blood u... |
OMIM:617872 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Stage 5 chronic kidney disease, Dehydration, Methylmalonic aciduria, Tubulointerstitial nephritis... |
OMIM:251000 |
Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... |
OMIM:616307 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Hereditary Orotic Aciduria |
|
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria |
ORPHA:30 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Xanthinuria, Increased u... |
OMIM:252160 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... |
OMIM:603860 |
Acute Intermittent Porphyria |
|
Dark urine, Renal insufficiency, Dysuria, Urinary incontinence, Porphyrinuria, Increased urinary ... |
ORPHA:79276 |
Familial Expansile Osteolysis |
|
Hydroxyprolinuria |
OMIM:174810 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... |
ORPHA:416 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal corticomedullary ... |
OMIM:613159 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
Amyloidosis, Finnish Type |
|
Nephrotic syndrome, Renal insufficiency |
OMIM:105120 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Hyperprolinemia Type 2 |
|
Hydroxyprolinuria, Renal insufficiency, Prolinuria, Increased urine alpha-ketoglutarate concentra... |
ORPHA:79101 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se... |
OMIM:617056 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Rec... |
OMIM:154230 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Nephronophthisis |
OMIM:615630 |
Autosomal Dominant Cutis Laxa |
|
Bladder diverticulum, Bronchiectasis, Unilateral renal agenesis, Pyelonephritis |
ORPHA:90348 |
Lesch-Nyhan Syndrome |
|
Renal insufficiency, Gout, Hematuria, Hyperuricemia, Anemia |
ORPHA:510 |
Gyrate Atrophy Of Choroid And Retina |
|
Abnormal hair morphology, Aminoaciduria |
ORPHA:414 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Anemia, Rhinitis,... |
ORPHA:230 |
Mucopolysaccharidosis, Type X |
|
Nephrolithiasis, Dermatan sulfate excretion in urine |
OMIM:619698 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cryptorchidism, Aminoaciduria |
OMIM:249270 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypokalemia, Nephrolithiasis, Decreased circulating renin level |
OMIM:615474 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... |
OMIM:229600 |
Argininosuccinic Aciduria |
|
Abnormal hair quantity, Aminoaciduria, Oroticaciduria, Trichorrhexis nodosa |
ORPHA:23 |
Mantle Cell Lymphoma |
|
Splenomegaly, Anorexia, Weight loss |
ORPHA:52416 |
Rhyns Syndrome |
|
Renal insufficiency, Chronic kidney disease, Nephronophthisis |
OMIM:602152 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Myocarditis, Leukocytosis, Oliguria, Weight loss, Pancreatitis... |
ORPHA:188 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypercalciuria, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular aci... |
ORPHA:2088 |
Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency |
ORPHA:254857 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria |
OMIM:603585 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Renal insufficiency |
OMIM:620235 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... |
OMIM:223900 |
Toxic Epidermal Necrolysis |
|
Renal insufficiency, Dysuria, Abnormality of the urethra, Thrombocytopenia, Neutropenia, Weight l... |
ORPHA:537 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... |
ORPHA:2970 |
Isovaleric Acidemia |
|
Hyperglycinuria, Dehydration |
OMIM:243500 |
Adrenal Hypoplasia, Congenital |
|
Hypogonadotropic hypogonadism, Renal salt wasting, Cryptorchidism, Dehydration, Oligozoospermia, ... |
OMIM:300200 |
Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Cryptorchidism, Long eyelashes, Horizontal eyebrow, Chronic otitis med... |
OMIM:609757 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Compulsive beh... |
ORPHA:534 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas |
OMIM:134610 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormal medullary pyramid morphology |
ORPHA:79243 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Sparse hair, Breast hypoplasia, ... |
OMIM:230740 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... |
ORPHA:91139 |
Glucose/Galactose Malabsorption |
|
Hypertonic dehydration, Glycosuria |
OMIM:606824 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated urinary aminoisobutyric ... |
OMIM:614105 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Polydipsia, Hypercalciuria |
ORPHA:251274 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
ORPHA:436271 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration |
OMIM:251850 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Coach Syndrome 1 |
|
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... |
OMIM:216360 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... |
OMIM:256700 |
Corticosterone Methyloxidase Type I Deficiency |
|
Dehydration, Renal salt wasting |
OMIM:203400 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Recurrent sinusitis, Rheumatoid arthritis, Recurrent otitis media, Juvenile rheumatoid... |
OMIM:607944 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Dehydration, Renal salt wasting |
OMIM:610600 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Proteinuria |
OMIM:245900 |
Erdheim-Chester Disease |
|
Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Weight loss, Polydipsia, Hydronephrosis, ... |
ORPHA:35687 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a... |
ORPHA:35858 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Weigh... |
ORPHA:90060 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Alopecia, Chr... |
OMIM:203800 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Dehydration, Renal salt wasting |
OMIM:264350 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, P... |
ORPHA:347 |
Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Hypokalemia, Polydipsia, Increased urinary potassium |
ORPHA:231580 |
Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Neurogenic bladder, Osteomyelitis, Recurrent urinary tract infections |
OMIM:619218 |
Cockayne Syndrome Type 1 |
|
Renal insufficiency, Proteinuria, Uveitis, Conjunctivitis, Increased blood urea nitrogen, Failure... |
ORPHA:90321 |
Myasthenic Syndrome, Congenital, 22 |
|
Cystinuria |
OMIM:616224 |
Sialidosis Type 1 |
|
Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialylated oligosac... |
ORPHA:812 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Dehydr... |
ORPHA:33110 |
Prune Belly Syndrome |
|
Cryptorchidism, Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
Reticular Dysgenesis |
|
Chronic otitis media, Skin rash, Dehydration |
ORPHA:33355 |
Diencephalic Syndrome |
|
Long penis, Cachexia, Decreased body weight |
ORPHA:1672 |
Leber Congenital Amaurosis 1 |
|
Hyperthreoninuria |
OMIM:204000 |
Megabladder, Congenital |
|
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease |
OMIM:618719 |
Joubert Syndrome 37 |
|
Decreased testicular size, Cryptorchidism, Sparse hair, Micropenis, Hydronephrosis |
OMIM:619185 |
Galloway-Mowat Syndrome 5 |
|
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-r... |
OMIM:617731 |
Acquired Ichthyosis |
|
Renal insufficiency, Recurrent skin infections |
ORPHA:454 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Recurrent skin infections, Cryptorchidism, Functional abnormality of the bladder, Nephrolithiasis... |
ORPHA:2953 |
Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Dimethylglycine Dehydrogenase Deficiency |
|
Elevated urinary N,N-dimethylglycine level |
OMIM:605850 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ede... |
OMIM:256300 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Dehydration, Nephrocalcinosi... |
OMIM:259900 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Abnormal hair pattern, Highly arched eyebrow, Cryptorchidism, Hydronephrosis |
ORPHA:2083 |
Spinocerebellar Ataxia 48 |
|
Urinary incontinence, Cachexia, Dysphagia |
OMIM:618093 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Hematuria, Anasarca, Abnormal renal physiology |
OMIM:123550 |
Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Cryptorchidism, Hydronephrosis |
OMIM:618060 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:225 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma |
ORPHA:538 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Homocystinuria |
OMIM:250940 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia, Nephrolithias... |
ORPHA:2785 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
OMIM:220110 |
Tetraploidy |
|
Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Aminoaciduria, Brittle hair |
OMIM:616084 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency |
OMIM:261670 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
Alkaptonuria |
|
Osteoarthritis, Nephrolithiasis, Arthritis, Aminoaciduria, Prostatitis |
ORPHA:56 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weigh... |
ORPHA:139402 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Nocturia, Increased blood urea nitrogen |
OMIM:223360 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena... |
OMIM:618183 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... |
ORPHA:94080 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea nitrogen,... |
OMIM:233450 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Liddle Syndrome |
|
Nephropathy, Renal insufficiency |
ORPHA:526 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Cryptorchidism, Dehydration |
OMIM:618958 |
Recombinant Chromosome 8 Syndrome |
|
Cryptorchidism, Hydronephrosis, Low posterior hairline |
OMIM:179613 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Anorexia, Thrombocytopenia, Leukocytosis, Weight loss, Hematuria, Leukopenia, Addic... |
ORPHA:520 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthritis |
ORPHA:375 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Chilblain... |
OMIM:619487 |
Joubert Syndrome 6 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Thrombotic Thrombocytopenic Purpura |
|
Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria |
ORPHA:54057 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:30925 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Alopecia, Proteinuria, Abnormality of body weight, Decr... |
ORPHA:2298 |
Propionic Acidemia |
|
Increased level of hippuric acid in urine, Eczema, Hyperglycinuria, Dehydration, Pancreatitis |
OMIM:606054 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Hypogonadism, Testicular seminoma |
ORPHA:281090 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Homocystinuria, Methylmalonic aciduria |
OMIM:236270 |
Nephroblastoma |
|
Hematuria, Nephroblastoma, Weight loss |
ORPHA:654 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Beta-aminoisobutyric aciduria |
OMIM:615330 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Minimal change glomerulonephritis, Facial edema, Chronic kidney disease, ... |
ORPHA:567546 |
Dystonia 31 |
|
Abnormal posturing, Dysphagia |
OMIM:619565 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated circulating creatinine concentrat... |
OMIM:614376 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cryptorchidism, Aminoaciduria, Polycystic kidney dysplasia |
OMIM:214110 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Weight loss |
ORPHA:141152 |
Frasier Syndrome |
|
Proteinuria, Stage 5 chronic kidney disease, Primary amenorrhea, Focal segmental glomeruloscleros... |
OMIM:136680 |
Suleiman-El-Hattab Syndrome |
|
Highly arched eyebrow, Cryptorchidism, Synophrys, Hirsutism, Frontal hirsutism, Hydronephrosis, T... |
OMIM:618950 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis |
OMIM:617913 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
Split-Hand/Foot Malformation 3 |
|
Nail dystrophy, Renal hypoplasia |
OMIM:246560 |
Dystonia-Aphonia Syndrome |
|
Abnormal urinary odor |
ORPHA:412217 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury |
ORPHA:33111 |
Laurence-Moon Syndrome |
|
Renal insufficiency, Hypoplasia of penis, Displacement of the urethral meatus, Cryptorchidism |
ORPHA:2377 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis |
OMIM:617661 |
Hepatoerythropoietic Porphyria |
|
Recurrent bacterial skin infections, Scarring alopecia of scalp, Loss of eyelashes, Red-brown uri... |
ORPHA:95159 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Aminoaciduria, Methylmalonic aciduria |
OMIM:612073 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hydronephrosis |
OMIM:620141 |
Familial Cold Urticaria |
|
Arthritis, Conjunctivitis, Dehydration |
ORPHA:47045 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Glycogen Storage Disease Xi |
|
Myoglobinuria, Renal insufficiency |
OMIM:612933 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Recurrent otitis media, Hydronephrosis |
OMIM:618494 |
Gitelman Syndrome |
|
Salt craving, Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypomagnesemia, Hyp... |
ORPHA:358 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2668 |
Hypoplasminogenemia |
|
Cervicitis, Decreased level of plasminogen, Periodontitis, Nephrolithiasis |
ORPHA:722 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the spleen, Abnormality... |
ORPHA:2552 |
Carnitine Deficiency, Systemic Primary |
|
Dicarboxylic aciduria, Dehydration |
OMIM:212140 |
Toluene Embryopathy |
|
Cryptorchidism, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Recurrent skin infections, Urinary bladder inflammation, Hydronephrosis, Hema... |
ORPHA:79403 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Nephropathy, Nephroblastoma |
OMIM:194072 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Red urine, Conjunctivitis, Pink urine, Hypertrichosis |
OMIM:263700 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Kury-Isidor Syndrome |
|
Recurrent otitis media, Alopecia, Hydronephrosis, Hypertrichosis |
OMIM:619762 |
Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis |
OMIM:607598 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati... |
ORPHA:90041 |
Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury |
OMIM:160010 |
Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... |
ORPHA:85445 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation, Hypopigmentation of hair |
OMIM:618541 |
Hereditary Hemorrhagic Telangiectasia |
|
Hematuria, Nephrolithiasis, Cholecystitis, Microcytic anemia |
ORPHA:774 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease |
OMIM:166300 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Lacticaciduria, Hyperglycinuria, Neonatal deat... |
OMIM:605711 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, Ketonuria |
OMIM:614520 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Nephrolithiasis, Abnormality of the kidney |
ORPHA:521445 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Edema, Mesangial hypercellularity, Cryptorchidism, Stag... |
OMIM:617575 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Oral-pharyngeal dysphagia, Anorexia, Weight loss |
ORPHA:100083 |
Wolcott-Rallison Syndrome |
|
Ascites, Renal insufficiency, Chronic kidney disease, Dehydration |
ORPHA:1667 |
Diabetic Embryopathy |
|
Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Micropenis, Hydronephrosis |
ORPHA:1926 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Polyhydramnios, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillb... |
OMIM:614922 |
Bartter Syndrome Type 4 |
|
Polyhydramnios, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abi... |
ORPHA:89938 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Malaria |
|
Acute kidney injury |
ORPHA:673 |
Early-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting, Dehydration |
ORPHA:556030 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cryptorchidism, Recurrent pneumonia, Dehydration |
OMIM:214150 |
Bresek Syndrome |
|
Decreased testicular size, Hypoplasia of the bladder, Alopecia, Cryptorchidism, Renal hypoplasia,... |
ORPHA:85284 |
Immunodeficiency 91 And Hyperinflammation |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Edema, He... |
OMIM:619644 |
Porphyria Cutanea Tarda |
|
Decreased circulating hepcidin concentration, Recurrent bacterial skin infections, Viral hepatiti... |
ORPHA:101330 |
Wolfram Syndrome |
|
Recurrent urinary tract infections, Dysuria, Abnormality of the urinary system, Nephropathy, Poly... |
ORPHA:3463 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia,... |
ORPHA:37042 |
Panhypophysitis |
|
Hyponatremia, Normochromic anemia, Hyposthenuria, Polydipsia, Hashimoto thyroiditis |
ORPHA:95513 |
Beckwith-Wiedemann Syndrome |
|
Cryptorchidism, Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, N... |
OMIM:130650 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul... |
OMIM:227810 |
Even-Plus Syndrome |
|
Recurrent urinary tract infections, Highly arched eyebrow, Synophrys, Vesicoureteral reflux, Rena... |
OMIM:616854 |
D-Glyceric Aciduria |
|
Aminoaciduria, Micropenis |
OMIM:220120 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Weight loss, He... |
OMIM:209950 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ... |
OMIM:617595 |
Muckle-Wells Syndrome |
|
Renal insufficiency, Maculopapular exanthema, Conjunctivitis, Renal amyloidosis, Recurrent aphtho... |
OMIM:191900 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Renal insufficiency, Salt craving, Hypercalcemia, Sparse axillar... |
ORPHA:95409 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Increased inflammatory res... |
ORPHA:183 |
Shigellosis |
|
Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Peritonitis, Urethritis, Uveitis, Ulcerative c... |
ORPHA:810 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis |
OMIM:300048 |
Whipple Disease |
|
Hyponatremia, Myositis, Pericarditis, Cachexia, Anorexia, Myocarditis, Splenomegaly, Uveitis, Art... |
ORPHA:3452 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Hydronephrosis, Low posterior hairline |
OMIM:220210 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Moynahan Syndrome |
|
Sparse hair, Alopecia, Hypogonadism, Cachexia |
ORPHA:2574 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis |
OMIM:619362 |
Preeclampsia |
|
Chronic kidney disease, Acute kidney injury, Proteinuria, Abnormality of the kidney |
ORPHA:275555 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Pericardial effusion, ... |
ORPHA:36412 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
Microscopic Polyangiitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Sinusitis, Increased inflammatory response, Pe... |
ORPHA:727 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Testicular atrophy, Hydronephrosis |
OMIM:222300 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Recurrent urinary tract infections, Renal insufficiency, Cholangitis, Hypersplenism... |
ORPHA:731 |
Sarcoidosis |
|
Hemolytic anemia, Renal insufficiency, Alopecia, Maculopapular exanthema, Hypercalcemia, Eosinoph... |
ORPHA:797 |
Tetrasomy 15Q26 |
|
Hydronephrosis, Horseshoe kidney |
OMIM:614846 |
Wild Type Attr Amyloidosis |
|
Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy |
ORPHA:330001 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, Nephrolithiasis,... |
OMIM:269700 |
9Q21.13 Microdeletion Syndrome |
|
Cryptorchidism, Hydronephrosis |
ORPHA:531151 |
Cranioectodermal Dysplasia 3 |
|
Short nail, Stage 5 chronic kidney disease, Fine hair, Nephronophthisis, Sparse hair |
OMIM:614099 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Acute hepatitis, Homocitrullinuria |
OMIM:238970 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Cachexia |
ORPHA:2774 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Thrombocytopenia, Peritonitis, Leukocytosis, Elevated circ... |
ORPHA:90038 |
Cholera |
|
Abnormality of renal excretion, Dehydration, Aspiration pneumonia, Acute kidney injury, Decreased... |
ORPHA:173 |
Osteogenesis Imperfecta, Type X |
|
Recurrent pneumonia, Nephrolithiasis |
OMIM:613848 |
Al Amyloidosis |
|
Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Abnormality of t... |
ORPHA:85443 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Low posterior hairline, Hydronephrosis, P... |
ORPHA:261290 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Skin rash, Elevated circulating creatinine concentration, Hyperb... |
ORPHA:542323 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Acute pancreatitis, Hypertriglyceridemia, Splenomegaly, Nephrolithiasis, Polyphagia, Hirsutism |
OMIM:608594 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Cryptorchidism, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis |
OMIM:214100 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Polyhydramnios, Tubular luminal dilatation, Renal corticomedullary cysts, Hy... |
OMIM:219730 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:2364 |
Trisomy 13 |
|
Abnormal eyelash morphology, Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Dis... |
ORPHA:3378 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:276621 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Scarring alopecia of scalp, Aplasia of the bladder, ... |
ORPHA:158684 |
Schwartz-Jampel Syndrome |
|
Abnormal eyebrow morphology, Decreased body weight, Elevated circulating creatine kinase concentr... |
ORPHA:800 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria |
OMIM:267430 |
Rabson-Mendenhall Syndrome |
|
Thick hair, Long penis, Low anterior hairline, Hypertrichosis, Nephrocalcinosis, Premature grayin... |
ORPHA:769 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Renal hypoplasia |
OMIM:619053 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Cryptorchidism, Hyposthenuria, Vesicoureteral reflux, Hydronephrosis |
OMIM:615926 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hyperlysinuria |
OMIM:616034 |
Mirizzi Syndrome |
|
Dark urine, Pancreatitis |
ORPHA:521219 |
Castleman Disease |
|
Renal insufficiency, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Wei... |
ORPHA:160 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Thrombocytosis, Anorexia, Leukocytosis, Hyperammonemia, Weight loss, Agitation, Hyperu... |
ORPHA:134 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Hypogonadism, Cystic renal dysplasia |
OMIM:615989 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Hyper... |
ORPHA:653 |
Congenital Erythropoietic Porphyria |
|
Recurrent bacterial skin infections, Scarring alopecia of scalp, Loss of eyelashes, Red-brown uri... |
ORPHA:79277 |
Leigh Syndrome |
|
Alopecia, Eczema, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Renal tubula... |
ORPHA:506 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Pneumonia, Impulsivity, Aggressiv... |
ORPHA:353281 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia |
OMIM:600151 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Polydipsia, Obesity |
ORPHA:3157 |
Canavan Disease |
|
Elevated urinary N-acetylaspartic acid level |
OMIM:271900 |
22Q11.2 Duplication Syndrome |
|
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis |
ORPHA:1727 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Elevated circulating C-reactive protein concentration, Hypereosi... |
ORPHA:449400 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
Zaki Syndrome |
|
Sparse scalp hair, Renal agenesis, Sparse eyebrow, Hydronephrosis, Sparse lateral eyebrow |
OMIM:619648 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder |
OMIM:601389 |
Legius Syndrome |
|
Hyperactivity, Acute monocytic leukemia, Nephrolithiasis, Male urethral meatus stenosis, Attentio... |
ORPHA:137605 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... |
OMIM:277400 |
Zimmermann-Laband Syndrome 1 |
|
Thick eyebrow, Thick hair, Highly arched eyebrow, Splenomegaly, Synophrys, Long penis, Low anteri... |
OMIM:135500 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Bronchiectasis, Weight loss,... |
ORPHA:60025 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Titubation, Abnormal posturing, Urinary incontinence, Dysphagia |
ORPHA:225147 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Sparse scalp hair, Sparse eyelashes, Proteinuria, Sparse eyebrow, Hematuria, Tubulointerstitial n... |
OMIM:616901 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl... |
ORPHA:29073 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Eczema, Edema, Minimal change glomerulonephritis, Stage... |
OMIM:618348 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
Monosomy 22Q13.3 |
|
Renal dysplasia, Recurrent skin infections, Long eyelashes, Vesicoureteral reflux, Recurrent pyel... |
ORPHA:48652 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... |
ORPHA:35173 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Renal salt wasting, Cryptorchidism, Dehydration, Azoospermia, Decreased fertility in... |
ORPHA:90791 |
Noonan Syndrome 4 |
|
Curly hair, Ureteral duplication, Sparse eyebrow, Cryptorchidism, High anterior hairline, Hydrone... |
OMIM:610733 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Edema, Nephrotic syndrome, Focal segmental glom... |
OMIM:254900 |
Erythrokeratodermia Variabilis |
|
Alopecia, Skin rash, Abnormal hair morphology, Weight loss, Abnormal testis morphology, Generaliz... |
ORPHA:317 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... |
OMIM:146255 |
Alg1-Cdg |
|
Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney |
ORPHA:79327 |
Familial Isolated Hyperparathyroidism |
|
Nephrocalcinosis, Hypercalciuria, Renal insufficiency, Hyperphosphaturia |
ORPHA:99879 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... |
OMIM:610188 |
Felty Syndrome |
|
Episcleritis, Recurrent urinary tract infections, Sinusitis, Pericarditis, Thrombocytopenia, Sple... |
ORPHA:47612 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Ketonuria, Dehydration |
OMIM:615453 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Nephropathy, Renal insufficiency, Lymphedema |
OMIM:247410 |
Joubert Syndrome 22 |
|
Renal hypoplasia |
OMIM:615665 |
Intellectual Disability, Buenos-Aires Type |
|
Hydronephrosis, Fine hair |
ORPHA:3079 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:308940 |
Renal Nutcracker Syndrome |
|
Dyspareunia, Proteinuria, Dysmenorrhea, Weight loss, Hematuria, Renal artery stenosis, Infertilit... |
ORPHA:71273 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Elevated circulating creatine kina... |
ORPHA:42 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:488613 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology |
OMIM:614227 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Renal insufficiency, Pancreatitis |
ORPHA:289916 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Large for gestational... |
ORPHA:116 |
Pseudo-Torch Syndrome 2 |
|
Abnormal renal corticomedullary differentiation |
OMIM:617397 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
Mesomelia-Synostoses Syndrome |
|
Abnormal eyebrow morphology, Hydronephrosis |
ORPHA:2496 |
Bruck Syndrome 2 |
|
Hydroxyprolinuria |
OMIM:609220 |
Pediatric-Onset Graves Disease |
|
Episcleritis, Hyperactivity, Keratitis, Splenomegaly, Neutropenia in presence of anti-neutropil a... |
ORPHA:525731 |
Argininosuccinic Aciduria |
|
Dry hair, Brittle hair, Aminoaciduria, Oroticaciduria, Trichorrhexis nodosa |
OMIM:207900 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Grade II vesicoureteral reflux, Weight loss, Hypokalemia, Increased serum bile acid ... |
OMIM:619377 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... |
OMIM:137940 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, W... |
ORPHA:54251 |
Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Hydrocele testis, Po... |
ORPHA:314588 |
Lysinuric Protein Intolerance |
|
Stage 5 chronic kidney disease, Fine hair, Aminoaciduria, Hyperlysinuria, Sparse hair, Oroticacid... |
OMIM:222700 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Dehydration |
ORPHA:103910 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Cryptorchidism, Nephrolithiasis, Nephrocalcinosis, Long eyelashes, Micropenis, Hydronephrosis, Re... |
OMIM:268310 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia |
OMIM:236500 |
Joubert Syndrome 2 |
|
Renal insufficiency, Renal cyst, Nephronophthisis |
OMIM:608091 |
Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Hydrocele testis, Renal hypoplasia, Horseshoe kidney |
OMIM:266810 |
Isolated Biliary Atresia |
|
Dark yellow urine |
ORPHA:30391 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Medium chain dicarboxylic aciduria, Hyperglycinuria |
OMIM:201450 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Abnormal circulating cholesterol con... |
ORPHA:399 |
Undifferentiated Pleomorphic Sarcoma |
|
Anorexia, Weight loss |
ORPHA:2023 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... |
ORPHA:99867 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Renal hypoplasia |
ORPHA:2256 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypopigmentation of hair, Hypospadias, Abnormality of hair texture, Cryptor... |
ORPHA:96169 |
Fatal Familial Insomnia |
|
Urinary retention, Dysphagia, Weight loss |
OMIM:600072 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Micropenis, Hyd... |
OMIM:301056 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Leukocytosis, Weight loss |
ORPHA:764 |
Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hypoplastic nipples,... |
ORPHA:2437 |
Citrullinemia, Type Ii, Adult-Onset |
|
Argininosuccinic aciduria, Pancreatitis |
OMIM:603471 |
D-Glyceric Aciduria |
|
Hyperglycinuria |
ORPHA:941 |
Transcobalamin Deficiency |
|
Acute kidney injury, Methylmalonic aciduria |
ORPHA:859 |
Zttk Syndrome |
|
Curly hair, Polyuria, Unilateral renal agenesis, Sparse eyebrow, Patent ductus arteriosus, Horses... |
OMIM:617140 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Aminoaciduria |
OMIM:614946 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Uret... |
ORPHA:261265 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... |
ORPHA:159 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Cryptorchidism, Micropenis, Hydronephrosis |
ORPHA:364028 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Patent ductus arteriosus, Horses... |
ORPHA:391641 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Alopecia, Myocarditis, Leukocytosis, Oliguria, Abnormal blood ... |
ORPHA:31824 |
Trisomy 20P |
|
Hypospadias, Thick hair, Highly arched eyebrow, Abnormality of the kidney, Cryptorchidism, Low an... |
ORPHA:261318 |
Sepsis In Premature Infants |
|
Small for gestational age, Elevated circulating C-reactive protein concentration, Thrombocytopeni... |
ORPHA:90051 |
Polyarteritis Nodosa |
|
Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, W... |
ORPHA:767 |
Micro Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Generalized hirsutism, Abnormal localization of kidney, Hydr... |
ORPHA:2510 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney disease, Renal cy... |
OMIM:208500 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Recurrent pneumonia, Prominent eyelashes, Hydronephrosis |
OMIM:619179 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Thrombocyto... |
ORPHA:47 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Elevated circulating... |
OMIM:608836 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hema... |
ORPHA:1018 |
Aredyld Syndrome |
|
Cachexia, Splenomegaly, Abnormality of the ureter, Sparse body hair, Aplasia/Hypoplasia of the ey... |
ORPHA:1133 |
Tryptophanuria With Dwarfism |
|
Tryptophanuria |
OMIM:276100 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Ketonuria, Seborrheic dermatitis, Hyperglycinuria, Organic aciduria |
OMIM:210210 |
Liposarcoma |
|
Abnormality of the kidney, Weight loss |
ORPHA:69078 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
Methylmalonic Aciduria, Cbla Type |
|
Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, Dehydration, Ele... |
OMIM:251100 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Polycystic kidney dysplasia |
OMIM:173900 |
Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Alopecia, Pelvic kidney, Hydronephrosis |
OMIM:613001 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Neonatal death, Increased urinary taurine |
OMIM:615501 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cryptorchidism, Hydronephrosis |
OMIM:620327 |
Johanson-Blizzard Syndrome |
|
Alopecia, Hypoplasia of penis, Hypospadias, Abnormal hair pattern, Hydronephrosis |
ORPHA:2315 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomegaly, Weight lo... |
ORPHA:507 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
Methylmalonic Aciduria, Cblb Type |
|
Ketonuria, Methylmalonic aciduria, Dehydration |
OMIM:251110 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenitis, Dy... |
ORPHA:449427 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... |
ORPHA:2614 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Methioninuria, Brittle hair, Homocystinuria, Pancreatitis |
OMIM:236200 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, High... |
OMIM:614527 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Hypertriglyceridemia, Small for gestational age, Polyuria, Recurrent pancreati... |
OMIM:606721 |
Branchio-Oculo-Facial Syndrome |
|
Premature graying of hair, Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency |
ORPHA:3222 |
Trisomy 1Q |
|
Cryptorchidism, Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis |
ORPHA:261344 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Bilateral fetal pyelectasis, Increased urine succinate level, Elevated... |
OMIM:606812 |
3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, 3-Methylglutaconic aciduria, Recurrent pneumonia, Dehydration |
OMIM:616271 |
Isolated Succinate-Coq Reductase Deficiency |
|
Vesicoureteral reflux, Weight loss |
ORPHA:3208 |
Schinzel-Giedion Syndrome |
|
Myeloid leukemia, Hypospadias, Failure to thrive in infancy, Recurrent pneumonia, Abnormality of ... |
ORPHA:798 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernumerary nipple, Highly arched eyebro... |
ORPHA:261494 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:29072 |
Harlequin Ichthyosis |
|
Dehydration, Erythroderma |
ORPHA:457 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hyperalaninemia, Tubulointerstitial nephritis, Failure to thrive |
OMIM:614582 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micropenis, Hypospadias, Hydronephrosis |
OMIM:616897 |
Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Exercise-induced myoglobinuria |
OMIM:300653 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Vesicoureteral re... |
ORPHA:261222 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Renal hypoplasia, Absence of renal corticomedullary differentiation |
OMIM:619758 |
Cystic Fibrosis |
|
Sinusitis, Bronchiectasis, Nephrolithiasis, Failure to thrive, Decreased body mass index |
ORPHA:586 |
Dahlberg-Borer-Newcomer Syndrome |
|
Nephropathy, Renal insufficiency, Lymphedema |
ORPHA:1563 |
Genitopatellar Syndrome |
|
Sparse scalp hair, Multicystic kidney dysplasia, Cryptorchidism, Fine hair, Hydronephrosis |
ORPHA:85201 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Pustule, Osteomyelitis, Atopic dermatitis, Dehydration |
ORPHA:171876 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Small for gestational age, Skin rash, Anorexia, Chronic ... |
ORPHA:330015 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Dysphagia, Weight loss, Attention deficit hyperactivity disorder, Aspiration pneumonia, Abnormal ... |
ORPHA:216866 |
Diffuse Cutaneous Systemic Sclerosis |
|
Arthritis, Renal insufficiency, Oliguria, Dysphagia |
ORPHA:220393 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Anorexia, Renal salt wasting, Hyperkalemia, Wei... |
ORPHA:361 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Renal hypoplasia, Coarse hair, Nail dystrophy |
ORPHA:75389 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple... |
OMIM:613095 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Weight loss |
ORPHA:411593 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Increased body weight, Weight loss, Hypokalemia, Abnormality of... |
ORPHA:1501 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Cryptorchidism, Hydronephrosis, Hypogonadism, Micropenis, Decreased testicular size |
OMIM:612513 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... |
ORPHA:284426 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury |
OMIM:268200 |
Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Hypospadias, Abnormal eating behavior, Recurrent pneumonia, Megacystis, Abnormal d... |
ORPHA:209905 |
Vacterl Association With Hydrocephalus |
|
Stillbirth, Renal hypoplasia |
OMIM:276950 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Bilateral cryptorchidism, Chor... |
ORPHA:96179 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Ketonuria, Anorexia, Leukocytosis, Hyperammonemia, Weight loss, Leukopenia, 3... |
ORPHA:20 |
Lujo Hemorrhagic Fever |
|
Lymphopenia, Renal insufficiency, Maculopapular exanthema, Skin rash, Elevated circulating C-reac... |
ORPHA:319213 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketonuria |
OMIM:616095 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Neonatal death, Aminoaciduria |
OMIM:619055 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Cryptorchidism, Abnorm... |
ORPHA:3027 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Neonatal death, Pelvic kid... |
OMIM:601186 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Cryptorchidism, Hydronephrosis |
ORPHA:457193 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:2484 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing, Dysphagia |
OMIM:304700 |
Huntington Disease-Like 1 |
|
Restlessness, Abnormal posturing, Weight loss |
ORPHA:157941 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Abnormality of the upper urinary tract, Dehydration, Renal tubular dysfunction, Glycos... |
ORPHA:99885 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Aciduria |
OMIM:617950 |
Hypomagnesemia 2, Renal |
|
Renal magnesium wasting, Renal insufficiency, Hypocalciuria |
OMIM:154020 |
Q Fever |
|
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Anorexia, Myocarditis, Thrombocy... |
ORPHA:781 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse hair, Recurrent pneumonia, Hypospadias, Hydronephrosis |
OMIM:616449 |
Lassa Fever |
|
Conjunctivitis, Oliguria, Dysphagia |
ORPHA:99824 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Anorexia, Weight loss |
ORPHA:86893 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Compulsive behaviors, Otitis media, Vesicoureteral reflux, Abnormal repetitive mannerisms, Hypera... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Compulsive behaviors, Otitis media, Vesicoureteral reflux, Abnormal repetitive mannerisms, Hypera... |
ORPHA:353277 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, Hematuria, Arthritis, Keratoco... |
ORPHA:91138 |
Degcags Syndrome |
|
Abnormal eyebrow morphology, Recurrent urinary tract infections, Hypopigmentation of hair, Hyposp... |
OMIM:619488 |
Addison Disease |
|
Hyponatremia, Normocytic anemia, Salt craving, Hypercalcemia, Sparse axillary hair, Decreased uri... |
ORPHA:85138 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Ureterocele, Vesicoureteral reflux, Micropenis, Hypogonadotropic hypogonadism, Sparse eyebrow, Cr... |
OMIM:604292 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glomerulopathy, Renal insufficiency, Ketonuria, Hemolytic-uremic syndrome, Hydrops fetalis, Methy... |
ORPHA:79282 |
Stevens-Johnson Syndrome |
|
Renal insufficiency, Dysuria, Abnormality of neutrophils, Abnormality of the urethra, Thrombocyto... |
ORPHA:36426 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Cryptorchidism, Micropenis, Frontal upsweep of hair, Hydronephrosis |
OMIM:617798 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Hydronephrosis |
ORPHA:568 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Cryptorchidism, Hydronephrosis |
OMIM:611209 |
Al-Gazali Syndrome |
|
Recurrent pneumonia, Hydronephrosis |
OMIM:609465 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria |
OMIM:264700 |
Zellweger Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:912 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... |
ORPHA:48435 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Skin rash, Cystathioninuria, Methylmalonic aciduria, Stomatitis, Homocystinuria |
OMIM:277380 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Hypospadias, Cachexia, Thin eyebrow |
ORPHA:3242 |
Brucellosis |
|
Elevated circulating C-reactive protein concentration, Anorexia, Knee osteoarthritis, Leukopenia,... |
ORPHA:1304 |
Cenani-Lenz Syndactyly Syndrome |
|
Renal agenesis, Renal hypoplasia, Ectopic kidney |
OMIM:212780 |
Peritoneal Cystic Mesothelioma |
|
Dyspareunia, Metrorrhagia, Peritonitis, Weight loss, Menorrhagia |
ORPHA:168816 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Anuria, Pneumonia, Myocarditis, Pancreatitis, Leukocytosis, Hyper... |
ORPHA:544482 |
Richards-Rundle Syndrome |
|
Ketonuria, Hypergonadotropic hypogonadism |
ORPHA:1399 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia |
ORPHA:139436 |
Babesiosis |
|
Renal insufficiency |
ORPHA:108 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Brittle hair, Cholangitis, Lacticaciduria, Tubulointerstitial nephritis, Aminoa... |
OMIM:124000 |
Glutaric Acidemia Type 3 |
|
Glutaric aciduria, Ketonuria |
ORPHA:35706 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Horseshoe kid... |
OMIM:272950 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Sparse scalp hair, Fair hair, Stage 5 chronic kidney disease, Renal cyst, F... |
OMIM:266920 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria |
OMIM:245050 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Erythroderma, Sparse hair, Hydronephrosis |
OMIM:302960 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Absent nipple, Hydronephrosis, Ureteral triplication |
OMIM:104350 |
2P15P16.1 Microdeletion Syndrome |
|
Decreased testicular size, Multicystic kidney dysplasia, Supernumerary nipple, Sparse eyebrow, Fi... |
ORPHA:261349 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... |
OMIM:607323 |
Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney |
ORPHA:93260 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Cryptorchidism, Micropenis, Hydronephrosis, Hypertrichosis |
OMIM:235255 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Decreased serum iron, Patent ductus arteriosus, Nephrolithiasis, Anemia, Aspiration pneumonia, Dy... |
ORPHA:438213 |
Visceral Myopathy 1 |
|
Megacystis, Hydronephrosis, Urinary retention, Vesicoureteral reflux, Pancreatitis |
OMIM:155310 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit... |
ORPHA:904 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration |
OMIM:620126 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Hydronephrosis, Esophagitis |
ORPHA:541423 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Curly eyelashes, Ectopic kidney, Highly arched eyebrow, Cryptorchidism,... |
OMIM:122470 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
Congenital Short Bowel Syndrome |
|
Dehydration |
OMIM:615237 |
8P Inverted Duplication/Deletion Syndrome |
|
Frontal balding, Cryptorchidism, Synophrys, Abnormality of the urinary system, Micropenis, Hydron... |
ORPHA:96092 |
Giant Cell Arteritis |
|
Alopecia, Renal insufficiency, Pericarditis, Anorexia, Weight loss, Hematuria, Arthritis |
ORPHA:397 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Hydronephrosis, Polycyst... |
ORPHA:2237 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Decreased testicular size, Hydroureter, Distal urethral duplication, Ectopic kid... |
OMIM:146510 |
Tarp Syndrome |
|
Neonatal death, Hydronephrosis, Horseshoe kidney |
OMIM:311900 |
Cystic Echinococcosis |
|
Eosinophilia, Renal cyst, Weight loss, Membranous nephropathy, Hyperbilirubinemia, Splenic cyst |
ORPHA:400 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Renal tubular acidosis, Chronic kidney disease, 3-Methylglutaconic aciduria |
ORPHA:324525 |
Humeroradial Synostosis |
|
Renal insufficiency |
OMIM:236400 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Thick eyebrow |
OMIM:620047 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Cachexia, Renal hypoplasia/aplasia |
ORPHA:1438 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Renal hypoplasia, Renal dysplasia |
ORPHA:85321 |
Oculopharyngodistal Myopathy |
|
Impaired oropharyngeal swallow response, Oral-pharyngeal dysphagia, Recurrent aspiration pneumoni... |
ORPHA:98897 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Unilateral renal agenesis, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Sy... |
OMIM:616737 |
Stromme Syndrome |
|
Stillbirth, Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria, Hypercalciuria, Increased urine deoxypyridinoline level |
OMIM:239000 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Renal salt wasting, Cryptorchidism, Abnormal urine potassium concentration, Decreased fertility, ... |
ORPHA:168558 |
Tempi Syndrome |
|
Polycythemia, Increased hematocrit, Abnormality of the kidney |
ORPHA:284227 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Hydronephrosis, Hydrocele testi... |
OMIM:614080 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Elevated circulat... |
ORPHA:900 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Ketonuria, Glycosuria |
OMIM:618857 |
3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Hydronephrosis |
ORPHA:7 |
Lymphoid Interstitial Pneumonia |
|
Skin rash, Eczema, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, Rheumatoid arthritis,... |
ORPHA:79128 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Trichiasis, Highly arched eyebrow, Renal hypoplasia, Renal cyst, Vesicouret... |
OMIM:618460 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Renal salt wasting, Cryptorchidism, Abnormal urine potassium concentration, Decreased fertility, ... |
ORPHA:289548 |
Autism, Susceptibility To, 3 |
|
Ketonuria |
OMIM:608049 |
Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Sinusitis, Recurrent urinary tract infections, Glomerulonephritis, Fasciitis... |
ORPHA:36234 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi... |
ORPHA:49 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Cryptorchidism, Horseshoe kidney, Vesicoureteral reflux, Erysipelas, Hydronephros... |
OMIM:235510 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Anorexia, Hypercalciuria, Nephrolithiasis, Weight loss |
ORPHA:652 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Cryptorchidism, Abnormal renal morphology, Micropenis, Hydronephrosis, Hypertrichosis |
ORPHA:1655 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Elevated circulating C-reactive protein concentration, Eosinophilia, Leukocyto... |
ORPHA:2070 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Paten... |
ORPHA:33001 |
Adams-Oliver Syndrome 6 |
|
Renal hypoplasia |
OMIM:616589 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis |
OMIM:270150 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Gland... |
ORPHA:2473 |
Mosaic Trisomy 8 |
|
Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Decreased testicular size |
ORPHA:96061 |
Refractory Celiac Disease |
|
Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, Hy... |
ORPHA:398063 |
Congenital Myopathy 17 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia |
OMIM:618975 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Homocystinuria, Methylmalonic aciduria |
OMIM:277410 |
Severe Acute Respiratory Syndrome |
|
Acute infectious pneumonia, Acute kidney injury |
ORPHA:140896 |
Pelvis-Shoulder Dysplasia |
|
Hydronephrosis, Facial hirsutism |
ORPHA:2839 |
Neuroleptic Malignant Syndrome |
|
Proteinuria, Urinary incontinence, Dehydration, Aspiration pneumonia, Myoglobinuria, Acute kidney... |
ORPHA:94093 |
Pearson Marrow-Pancreas Syndrome |
|
Hypercalciuria, Hydrops fetalis, Dehydration, 3-Methylglutaric aciduria, Renal Fanconi syndrome, ... |
OMIM:557000 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, Alpha-aminoadipic aciduria |
OMIM:620089 |
Mungan Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:611376 |
Polymyositis |
|
Pericarditis, Elevated circulating creatine kinase concentration, Anorexia, Weight loss, Arthriti... |
ORPHA:732 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Edema, Orchitis, Pustu... |
ORPHA:761 |
Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Glandular hypospadias |
ORPHA:1358 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent aphthous stomatit... |
OMIM:266600 |
Scrub Typhus |
|
Anterior uveitis, Renal insufficiency, Skin rash, Myocarditis, Infectious encephalitis |
ORPHA:83317 |
Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Eczema, Abnormality of hair texture, Cryptorchidism, Vesicour... |
OMIM:610443 |
Vici Syndrome |
|
Lymphopenia, Hypopigmentation of hair, Elevated circulating creatine kinase concentration, Albini... |
OMIM:242840 |
Solitary Fibrous Tumor |
|
Hypophosphatemic rickets, Reduced C-peptide level, Urinary retention, Weight loss |
ORPHA:2126 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia |
OMIM:617914 |
Generalized Pustular Psoriasis |
|
Renal insufficiency, Pustule, Cheilitis, Uveitis, Pedal edema, Arthritis, Palmoplantar pustulosis... |
ORPHA:247353 |
Eec Syndrome |
|
Slow-growing hair, Hypospadias, Renal hypoplasia/aplasia, Sparse eyebrow, Keratitis, Fine hair, I... |
ORPHA:1896 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormality of the kidney, Sparse eyebrow, Tubulointerstitial nephritis, Enure... |
ORPHA:459061 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Renal hypoplasia, Renal cyst, Microp... |
OMIM:618454 |
Wilson Disease |
|
Aggressive behavior, Hypersexuality, Thrombocytopenia, Splenomegaly, Increased body weight, Hepat... |
ORPHA:905 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Dysphagia, Weight loss |
ORPHA:2198 |
Paget Disease Of Bone 2, Early-Onset |
|
Hydroxyprolinuria |
OMIM:602080 |
Gabriele-De Vries Syndrome |
|
Sparse eyebrow, Cryptorchidism, Frontal upsweep of hair, Ureteropelvic junction obstruction, Hydr... |
OMIM:617557 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Nephrotic syndrome, Arthritis... |
OMIM:615559 |
Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1225 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration |
OMIM:177735 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Obesity, Enuresis, Self-injuriou... |
ORPHA:293987 |
Takayasu Arteritis |
|
Increased inflammatory response, Anorexia, Weight loss, Arthritis, Inflammatory abnormality of th... |
ORPHA:3287 |
Secondary Short Bowel Syndrome |
|
Enterocolitis, Dehydration |
ORPHA:95427 |
Congenital Tufting Enteropathy |
|
Arthritis, Punctate keratitis, Dehydration |
ORPHA:92050 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Renal dysplasia, Sparse scalp hair, Duplicated collecting system, Hydroureter, Sparse eyelashes, ... |
OMIM:129900 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Cryptorchidism, Low posterior hairl... |
ORPHA:1340 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria, Cachexia, Hypoalbuminemia, Failure to thrive |
OMIM:610965 |
Carpenter Syndrome 1 |
|
Cryptorchidism, Hydroureter, Hydronephrosis |
OMIM:201000 |
Zygomycosis |
|
Renal insufficiency, Sinusitis, Fasciitis, Pericarditis, Gastritis, Pustule, Myocarditis, Periton... |
ORPHA:73263 |
Osteogenesis Imperfecta |
|
Small for gestational age, Osteoarthritis, Hypercalciuria, Nephrolithiasis, Dysphagia, Thrombocyt... |
ORPHA:666 |
Liddle Syndrome 1 |
|
Renal insufficiency |
OMIM:177200 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Neurogenic bladder, Low anterior hairline, Hydronephrosis, Hypertrichosis |
OMIM:608779 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Cryptorchidism, Horseshoe kidney, Multiple renal cysts, Hyd... |
ORPHA:99776 |
Variant Abeta2M Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis |
ORPHA:314652 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Periodontitis, Hydronephrosis |
OMIM:619269 |
Hyperlysinemia |
|
Argininuria, Recurrent pneumonia, Cystinuria, Decreased urine alpha-ketoglutarate concentration, ... |
ORPHA:2203 |
Matthew-Wood Syndrome |
|
Vesicoureteral reflux, Cryptorchidism, Renal hypoplasia, Horseshoe kidney |
ORPHA:2470 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Hydronephrosis |
ORPHA:2059 |
Cronkhite-Canada Syndrome |
|
Alopecia, Cachexia, Anorexia, Splenomegaly, Anemia, Dystrophic toenail, Patchy alopecia, Dystroph... |
ORPHA:2930 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Vesicoureteral reflux, Micropenis, P... |
OMIM:618653 |
Enamel-Renal Syndrome |
|
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... |
ORPHA:1031 |
Xeroderma Pigmentosum |
|
Alopecia, Keratitis, Cryptorchidism, Aminoaciduria, Hypogonadism, Blepharitis, Decreased testicul... |
ORPHA:910 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:713 |
Fanconi Anemia, Complementation Group W |
|
Renal hypoplasia |
OMIM:617784 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hydronephrosis, Unilateral breast hypoplasia, Renal dysplasia, Hypertrichosis |
OMIM:300968 |
Legionnaires Disease |
|
Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Hepatitis, Endocarditis, Hematuria, ... |
ORPHA:549 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Maculopapular exanthema, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, W... |
ORPHA:98850 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Cachexia, Renal salt wasting, Bone-marrow foam cells, Hypersp... |
ORPHA:275761 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Hydronephrosis, Supernumerary nipple, Highly arched eyebrow |
ORPHA:247262 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac... |
OMIM:309000 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Vesicoureteral reflux, Cryptorchidism, Renal atrophy, Hypospadias |
OMIM:618659 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Marchiafava-Bignami Disease |
|
Addictive alcohol use, Urinary incontinence, Aggressive behavior |
ORPHA:221074 |
Cat Eye Syndrome |
|
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney |
OMIM:115470 |
Caroli Disease |
|
Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Weight loss, Po... |
ORPHA:53035 |
Cerebellar-Facial-Dental Syndrome |
|
Sparse eyebrow, Cryptorchidism, Fine hair, Sparse hair, Ureteropelvic junction obstruction, Hydro... |
ORPHA:444072 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Hydronephrosis, Dysuria |
ORPHA:101000 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketonuria, Glycosuria |
ORPHA:2089 |
Argininemia |
|
Diaminoaciduria, Oroticaciduria |
OMIM:207800 |
Cystic Fibrosis |
|
Male infertility, Recurrent pneumonia, Bronchiectasis, Hypercalciuria, Dehydration, Chronic sinus... |
OMIM:219700 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria |
ORPHA:289157 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, ... |
OMIM:619534 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Cryptorchidis... |
ORPHA:847 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia, Polydipsia |
ORPHA:403 |
Congenital Disorder Of Glycosylation, Type It |
|
Recurrent otitis media, Hepatitis, Hydronephrosis, Chronic hepatitis |
OMIM:614921 |
19Q13.11 Microdeletion Syndrome |
|
Hypospadias, Supernumerary nipple, Cachexia, Cryptorchidism, Fine hair, Sparse or absent eyelashe... |
ORPHA:217346 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Generalized aminoaciduria |
OMIM:251880 |
Boutonneuse Fever |
|
Skin rash, Renal insufficiency, Maculopapular exanthema |
ORPHA:83313 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Exstrophy-Epispadias Complex |
|
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... |
ORPHA:322 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Ureteral atresia, Polycystic kidney dysplasi... |
OMIM:208540 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Head titubation, Urinary incontinence, Cachexia, Dysphagia |
ORPHA:300605 |
Netherton Syndrome |
|
Hypernatremic dehydration, Recurrent skin infections, Allergic rhinitis, Eczema, Angioedema, Chro... |
OMIM:256500 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Vesicoureteral reflux, Crossed fused renal ectopia, Pelvi... |
OMIM:300707 |
Pearson Syndrome |
|
Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Hydrops fetalis, Dehydration, Corne... |
ORPHA:699 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Lymphedema, Urinary mulberry cells, Lipiduria |
OMIM:301500 |
1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Cryptorchidism, Hydronephrosis |
ORPHA:250989 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Abnormality of the upper urinary tract, Highly arched eyebrow, Low posterior hairlin... |
ORPHA:2995 |
Snakebite Envenomation |
|
Angioedema, Acute kidney injury, Edema |
ORPHA:449285 |
White-Kernohan Syndrome |
|
Hydroureter, Synophrys, Broad medial eyebrow, Horseshoe kidney, Long eyelashes, Horizontal eyebro... |
OMIM:619426 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia |
OMIM:616258 |
15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis |
ORPHA:314585 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
ORPHA:2157 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypogonadotropic hypogonadism, Acne, Renal salt wasting, Abnormality of the menstrual cycle, Long... |
ORPHA:90794 |
Hereditary Late-Onset Parkinson Disease |
|
Impulsivity, Spastic/hyperactive bladder, Weight loss, Agitation, Dysphagia |
ORPHA:411602 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Pustule, Facial edema, Cheilit... |
ORPHA:293173 |
X-Linked Intellectual Disability, Armfield Type |
|
Cryptorchidism, Aminoaciduria, Organic aciduria, Galactosuria |
ORPHA:85276 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Elevated urinary 3-methylcrotonylglycine level, Ketonuria, 3-hydroxyisovaleric aciduria |
OMIM:210200 |
Interstitial Lung And Liver Disease |
|
Aminoaciduria |
OMIM:615486 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati... |
ORPHA:324964 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Cryptorchidism, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis |
OMIM:236700 |
Thakker-Donnai Syndrome |
|
Hydronephrosis |
ORPHA:1780 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse scalp hair, Hypospadias, Sparse eyebrow, Recurrent pneumonia, Male urethral meatus stenosi... |
ORPHA:464738 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Generalized hirsutism |
ORPHA:2221 |
3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst |
ORPHA:445038 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Chilblains, Pneumonia, Increased c... |
OMIM:615846 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, High... |
ORPHA:2322 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Atopic dermatitis, Low posterior... |
OMIM:115150 |
Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Hypopigmentation of hair, Anorexia, Weight loss, Long eyelashes, Neutropenia |
ORPHA:79430 |
D-Lactic Aciduria With Gout |
|
Lacticaciduria |
OMIM:245450 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Renal agenesis, Hypospadias, Cryptorchidism, Micropenis, Hydronephrosis |
OMIM:301040 |
Pfapa Syndrome |
|
Arthritis, Infectious encephalitis, Weight loss |
ORPHA:42642 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Weight loss, Dysphagia, Hyperalaninemia, Anemia |
ORPHA:298 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Lacticaciduria, Elevated urine acetoacetic aci... |
OMIM:615751 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency |
ORPHA:2165 |
Behçet Disease |
|
Glomerulopathy, Renal insufficiency, Myositis, Acne, Increased inflammatory response, Anorexia, P... |
ORPHA:117 |
Christianson Syndrome |
|
Cachexia, Inappropriate laughter, Dysphagia, Abnormal repetitive mannerisms, Thick eyebrow |
ORPHA:85278 |
Cockayne Syndrome Type 3 |
|
Renal insufficiency, Dry hair, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Renal ... |
ORPHA:90324 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Hydronephrosis |
ORPHA:254528 |
Juvenile Huntington Disease |
|
Hyperactivity, Weight loss |
ORPHA:248111 |
Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Hydronephrosis, Hirsutism |
OMIM:305620 |
Au-Kline Syndrome |
|
Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Ves... |
OMIM:616580 |
Holoprosencephaly 3 |
|
Hydronephrosis |
OMIM:142945 |
Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Sinusitis, Premature ovarian insufficiency, Recurrent pneumon... |
OMIM:251260 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Chronic o... |
ORPHA:2750 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Ménétrier Disease |
|
Anorexia, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypoproteinemia, Giant hyp... |
ORPHA:2494 |
Kanzaki Disease |
|
Increased urinary O-linked sialopeptides, Aminoaciduria |
OMIM:609242 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Tarp Syndrome |
|
Abnormal hair pattern, Cryptorchidism, Horseshoe kidney, Hydronephrosis, Thick eyebrow |
ORPHA:2886 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2715 |
Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, E... |
ORPHA:289176 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Cry... |
OMIM:258040 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Dicarboxylic a... |
OMIM:619355 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Ketonuria, Renal steatosis |
OMIM:261680 |
Campomelic Dysplasia |
|
Hydronephrosis |
ORPHA:140 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Meningococcal Meningitis |
|
Skin rash, Renal insufficiency, Infectious encephalitis |
ORPHA:33475 |
Focal Dermal Hypoplasia |
|
Alopecia, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Hydronephrosis |
ORPHA:2092 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Eczema, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Hydronephrosis, Micro... |
ORPHA:464306 |
Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Hypogonadotropic hypogonadism, Cryptorchidism, Vesicoureteral reflux, Microp... |
OMIM:617159 |
Systemic Sclerosis |
|
Renal insufficiency, Pericarditis, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Os... |
ORPHA:90291 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Stillbirth, Hydronephrosis, Unilateral renal agenesis |
OMIM:308050 |
Joubert Syndrome 9 |
|
Stage 5 chronic kidney disease |
OMIM:612285 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Synophrys, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Hydrocele... |
ORPHA:280633 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Proteinuria, Bilateral cryptorchidism, Stage 5 chronic kidney disease, Focal... |
OMIM:242900 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Neonatal death, Ketonuria, Lacticaciduria, Aspiration pneumonia |
OMIM:619167 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Anorexia, Thrombocytopenia, Leukocytosis, S... |
ORPHA:824 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Stage 1 chronic kidney disease |
OMIM:618821 |
Alveolar Echinococcosis |
|
Cholangitis, Eosinophilia, Renal cyst, Weight loss, Abnormal spleen morphology, Abnormal bladder ... |
ORPHA:284 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Skin rash, Anorexia, Weight loss |
ORPHA:391 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Micropenis, Pelvic kidney, Hy... |
ORPHA:464311 |
Raine Syndrome |
|
Neonatal death, Hydroureter, Hydronephrosis, Highly arched eyebrow |
OMIM:259775 |
Cousin Syndrome |
|
Low anterior hairline, Hydronephrosis, Facial hirsutism |
OMIM:260660 |
Mcdonough Syndrome |
|
Cryptorchidism, Synophrys, Cachexia |
ORPHA:2471 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease |
OMIM:613819 |
Bone Dysplasia, Lethal Holmgren Type |
|
Patent ductus arteriosus, Failure to thrive, Anemia, Weight loss |
ORPHA:1842 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Recurrent urinary tract infections, Dry hair, Hypospadias, Eczema, Pneumonia, ... |
OMIM:619991 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Vesicoureteral reflux, Cryptorchidism, Abnormal bladder morphology, Hydronephrosis |
ORPHA:453499 |
Relapsing Polychondritis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna... |
ORPHA:728 |
Eosinophilic Fasciitis |
|
Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthritis |
ORPHA:3165 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Hyperactivity, Cachexia, Abnormal hair pattern, Aggressive behavior, Synophr... |
ORPHA:85293 |
Isolated Osteopoikilosis |
|
Discoid lupus rash, Addictive alcohol use, Abnormality of the kidney |
ORPHA:166119 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Myoglobinuria, Acute kidney injury |
ORPHA:57 |
Melnick-Needles Syndrome |
|
Ureteral stenosis, Coarse hair, Stillbirth, Recurrent otitis media, Frontal hirsutism, Hydronephr... |
OMIM:309350 |
Congenital Alveolar Capillary Dysplasia |
|
Hydronephrosis |
ORPHA:210122 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Skin rash, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyi... |
OMIM:253270 |
Pleural Mesothelioma |
|
Dysphagia, Weight loss |
ORPHA:50251 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Unilateral renal agenesis, Sparse anterior scalp hair, Cryptorchidism, Enuresis, Lon... |
ORPHA:96121 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer... |
ORPHA:3226 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Perianal abscess, Cryptorchidism, Urachus fistula, Panniculit... |
OMIM:612541 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Abnormal hair morphology, Weight loss, Premature graying of hair, Abnormal circulating ... |
ORPHA:1979 |
Aneurysm Of Sinus Of Valsalva |
|
Oliguria, Bacterial endocarditis |
ORPHA:1054 |
Dubowitz Syndrome |
|
Sparse scalp hair, Hypospadias, Eczema, Cryptorchidism, Low anterior hairline, Fine hair, Hydrone... |
ORPHA:235 |
Tuberous Sclerosis 2 |
|
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe... |
OMIM:613254 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Ureteral hypoplasia, Low posterior hairline, Hypoplasia of the ovary, ... |
ORPHA:79328 |
Allergic Bronchopulmonary Aspergillosis |
|
Bronchiectasis, Weight loss |
ORPHA:1164 |
Distal Deletion 12Q |
|
Late onset atopic dermatitis, Unilateral cryptorchidism, Ectopic kidney, Fine hair, Polycystic ki... |
ORPHA:96149 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia, Dysphagia |
ORPHA:363717 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Dehydration |
OMIM:214700 |
Occipital Horn Syndrome |
|
Ureteral obstruction, Bladder diverticulum, Coarse hair, Pili torti, Hydronephrosis |
OMIM:304150 |
Craniofacioskeletal Syndrome |
|
Cryptorchidism, Hypospadias, Hydronephrosis |
OMIM:300712 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes... |
ORPHA:79102 |
Marburg Hemorrhagic Fever |
|
Renal insufficiency, Pericarditis, Maculopapular exanthema, Skin rash, Orchitis, Uveitis, Dehydra... |
ORPHA:99826 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:617660 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Patent ductus arteriosus, Obesity, Weight loss, Attention deficit hyperactivity diso... |
ORPHA:251071 |
Pyruvate Carboxylase Deficiency |
|
Lacticaciduria, Dehydration |
ORPHA:3008 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Hydronephrosis |
OMIM:271520 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cachexia, Anorexia, Hypokalemia, Nail dystrophy, Hypocalcemia, Hypomagnesemia, Anemia |
OMIM:175500 |
3Mc Syndrome 1 |
|
Hydronephrosis, Synophrys, Supernumerary nipple, Highly arched eyebrow |
OMIM:257920 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Hepatitis, Abnormal renal tubule morphology |
ORPHA:440713 |
Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Weight loss |
OMIM:191390 |
Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Acute kidney injury, Proteinuria |
OMIM:618886 |
Opitz Gbbb Syndrome |
|
Hypospadias, Cryptorchidism, Widow's peak, Abnormality of the urinary system, Vesicoureteral refl... |
ORPHA:2745 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Anorexia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weig... |
ORPHA:1302 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Anorexia, Eosinophilia, Hyperk... |
ORPHA:199299 |
Otopalatodigital Syndrome Type 2 |
|
Hydronephrosis, Hypospadias, Ureteral obstruction |
ORPHA:90652 |
Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Weight loss |
ORPHA:26790 |
Trisomy 8P |
|
Cryptorchidism, Fetal pyelectasis, Low posterior hairline, Nephrocalcinosis, Micropenis, Hydronep... |
ORPHA:264450 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Macrocytic anemia, Eczema, Thyroiditis, Weight loss, Iron deficiency anemia, Hypocalcem... |
OMIM:212750 |
Yellow Fever |
|
Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase concentrati... |
ORPHA:99829 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Cryptorchidism, Renal hypoplasia, Microphallus, Vesicoureteral reflux, Pelvic kidney |
OMIM:603467 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:86818 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Vesicoureteral reflux, Abnormal testis ... |
ORPHA:96147 |
Dend Syndrome |
|
Dehydration |
ORPHA:79134 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Weight loss |
ORPHA:703 |
Pelizaeus-Merzbacher Disease |
|
Abnormality of the urinary system, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Chime Syndrome |
|
Sparse hair, Abnormality of the kidney, Hydronephrosis, Fine hair |
ORPHA:3474 |
Fryns Syndrome |
|
Ureteral duplication, Hypospadias, Renal agenesis, Cryptorchidism, Renal cyst, Stillbirth, Facial... |
OMIM:229850 |
Riboflavin Transporter Deficiency |
|
Dysphagia, Cachexia, Aggressive behavior |
ORPHA:97229 |
Autoimmune Polyendocrinopathy Type 4 |
|
Alopecia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Hepa... |
ORPHA:227990 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Renal insufficiency, Mild proteinuria |
OMIM:619147 |
Joubert Syndrome With Oculorenal Defect |
|
Nephropathy, Renal insufficiency |
ORPHA:2318 |
Avian Influenza |
|
Pneumonia, Hepatitis, Conjunctivitis, Pleural effusion, Acute kidney injury, Infectious encephali... |
ORPHA:454836 |
Riddle Syndrome |
|
Pneumonia, Elevated circulating alpha-fetoprotein concentration, Recurrent pneumonia, Weight loss... |
ORPHA:420741 |
Trisomy 18 |
|
Cryptorchidism, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:3380 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Weight loss |
ORPHA:66661 |
Gm1 Gangliosidosis |
|
Splenomegaly, Patent ductus arteriosus, Weight loss, Hepatosplenomegaly, Aspiration pneumonia, Dy... |
ORPHA:354 |
Intermediate Uveitis |
|
Anterior uveitis, Psoriasiform dermatitis, Macular edema, Tubulointerstitial nephritis, Optic neu... |
ORPHA:279914 |
Joubert Syndrome With Renal Defect |
|
Nephropathy, Renal insufficiency |
ORPHA:220497 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Abnormal hair mo... |
ORPHA:647 |
Refsum Disease |
|
Renal insufficiency |
ORPHA:773 |
Benign Recurrent Intrahepatic Cholestasis |
|
Pancreatitis, Anorexia, Weight loss |
ORPHA:65682 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Homocystinuria |
ORPHA:395 |
Apert Syndrome |
|
Chronic otitis media, Cryptorchidism, Acne, Hydronephrosis |
OMIM:101200 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Recurrent pneumonia, Hydronephrosis, Multiple bladder diverticula |
OMIM:613177 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Cryptorchidism, Micropenis, Hypospadias, Hydronephrosis |
ORPHA:163979 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Weight loss |
ORPHA:312 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Nephroblastoma, Renal hypoplasia |
OMIM:612918 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Absent eyebrow, Alopecia, Hydroureter, Abnormality of the kidney, Abnormality of th... |
ORPHA:2273 |
Follicular Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:545 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Unilateral renal agenesis, Highly arched eyebrow, Sparse eyebrow, Synophrys, Hydrone... |
ORPHA:487796 |
Tyrosinemia, Type I |
|
Renal insufficiency, Nephrocalcinosis, Renal Fanconi syndrome, Glomerular sclerosis, Ascites, Enl... |
OMIM:276700 |
Orotic Aciduria |
|
Hematuria, Oroticaciduria, Orotic acid crystalluria |
OMIM:258900 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Low anterior hairline, Renal hypoplasia, Ureteral agen... |
OMIM:617666 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Renal cyst, Generalized edema |
OMIM:617478 |
Autoimmune Polyendocrinopathy Type 3 |
|
Alopecia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Hepa... |
ORPHA:227982 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Highly arched eyebrow, Fine hair, Hydrocele testis, Hypoplastic nip... |
OMIM:280000 |
Sickle Cell Disease |
|
Hematuria, Renal insufficiency, Priapism |
OMIM:603903 |
Autosomal Recessive Robinow Syndrome |
|
Multicystic kidney dysplasia, Alopecia, Hypoplasia of penis, Cryptorchidism, Long eyelashes, Chro... |
ORPHA:1507 |
Reactive Arthritis |
|
Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Pustule, Enthesitis, Weight loss... |
ORPHA:29207 |
Martin-Probst Syndrome |
|
Renal insufficiency, Proteinuria, Cryptorchidism, Chordee, Micropenis |
OMIM:300519 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Hypoplastic nipples, Micropenis, Hydronephrosis, Hyp... |
OMIM:269150 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:161200 |
Coccidioidomycosis |
|
Renal insufficiency, Pericarditis, Osteomyelitis, Abnormality of the kidney, Pneumonia, Skin rash... |
ORPHA:228123 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Tufted hai... |
ORPHA:573278 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... |
OMIM:118450 |
Relapsing Fever |
|
Hematuria, Abnormality of the urinary system, Acute kidney injury |
ORPHA:91547 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Hypospadias, Cachexia, Obesity, Abnormality of the urinary system |
ORPHA:813 |
Familial Mediterranean Fever |
|
Pericarditis, Orchitis, Peritonitis, Stage 5 chronic kidney disease, Nephrotic syndrome, Arthriti... |
OMIM:249100 |
Pseudo-Torch Syndrome 1 |
|
Renal insufficiency |
OMIM:251290 |
Floating-Harbor Syndrome |
|
Hypospadias, Cryptorchidism, Glandular hypospadias, Atopic dermatitis, Low posterior hairline, Ne... |
OMIM:136140 |
Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... |
OMIM:192350 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... |
OMIM:251300 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal insufficiency, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vesicoureteral reflux |
ORPHA:140952 |
Hellp Syndrome |
|
Pulmonary edema, Proteinuria, Hemoglobinuria, Pleural effusion, Acute kidney injury, Generalized ... |
ORPHA:244242 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Chronic Graft Versus Host Disease |
|
Alopecia, Fasciitis, Pancytopenia, Anorexia, Phimosis, Urinary bladder inflammation, Bronchiectas... |
ORPHA:99921 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Glutaric Acidemia I |
|
Glutaric aciduria, Ketonuria |
OMIM:231670 |
Ileal Neuroendocrine Tumor |
|
Hydronephrosis |
ORPHA:100078 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Hypereosinophilia, Atopic de... |
ORPHA:2902 |
Peripheral Primitive Neuroectodermal Tumor |
|
Elevated carcinoma antigen 125 level, Anorexia, Elevated circulating alpha-fetoprotein concentrat... |
ORPHA:370348 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:619603 |
Idiopathic Bronchiectasis |
|
Acute infectious pneumonia, Bronchiectasis, Cachexia |
ORPHA:60033 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria |
OMIM:251900 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Alopecia, Recurrent urinary tract infections, Hypospadias, Eczema, Testicular neoplasm, Cryptorch... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Alopecia, Recurrent urinary tract infections, Hypospadias, Eczema, Testicular neoplasm, Cryptorch... |
ORPHA:363958 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Bifid ureter, Horizontal eyebrow, Alopecia of scalp, Hydronephrosis... |
OMIM:267750 |
Waldenström Macroglobulinemia |
|
Periorbital edema, Pleural effusion, Renal insufficiency, Pedal edema |
ORPHA:33226 |
Hermansky-Pudlak Syndrome 1 |
|
Renal insufficiency, Colitis, Inflammation of the large intestine |
OMIM:203300 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Primary Sclerosing Cholangitis |
|
Renal insufficiency, Abnormal eosinophil morphology, Splenomegaly, Hepatitis, Uveitis, Weight los... |
ORPHA:171 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder |
OMIM:616973 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria |
ORPHA:79644 |
Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Anorexia, Iridocyclitis, Splenomegaly, Hypercalciuria, Uveitis, Weight loss, Bronch... |
OMIM:181000 |
Sandifer Syndrome |
|
Anemia, Abnormal posturing, Esophagitis |
ORPHA:71272 |
Familial Colorectal Cancer Type X |
|
Renal neoplasm, Abnormal circulating creatine concentration, Attention deficit hyperactivity diso... |
ORPHA:440437 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Generalized aminoaciduria |
ORPHA:404454 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Abnormality of the kidney, Cholangitis, Facial edema, Periorbital edema, Xer... |
ORPHA:449432 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney disease, Oligohyd... |
OMIM:267010 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria |
OMIM:268315 |
Porphyria Variegata |
|
Neurogenic bladder, Chronic kidney disease, Porphyrinuria, Increased urinary porphobilinogen, Ele... |
ORPHA:79473 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ... |
ORPHA:289390 |
Cap Polyposis |
|
Atrophic gastritis, Weight loss |
ORPHA:160148 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hypogonadotropic hypogonadism, Weight loss, Arthritis, Infertility, Erectile dysfunction, Testicu... |
ORPHA:465508 |
Acrodermatitis Enteropathica |
|
Abnormal eyebrow morphology, Alopecia, Anorexia, Pustule, Cheilitis, Weight loss, Conjunctivitis,... |
ORPHA:37 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Cryptor... |
ORPHA:2636 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Decreased testicular size, Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:615287 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, H... |
ORPHA:90362 |
Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal h... |
ORPHA:818 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Eczema, Cryptorchidism, Hydronephrosis, Aplasia/Hypoplasia of the e... |
ORPHA:2308 |
Calciphylaxis |
|
Stage 5 chronic kidney disease |
ORPHA:280062 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Skin rash, Weight loss |
ORPHA:33276 |
Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Myositis, Pericarditis, Cryptorchidism, Hors... |
ORPHA:3310 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Nephrotic syndro... |
OMIM:617729 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Okamoto Syndrome |
|
Urinary incontinence, Extension of hair growth on temples to lateral eyebrow, Unilateral renal hy... |
ORPHA:2729 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermatitis, Cryptorch... |
ORPHA:83617 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease |
OMIM:620366 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Hydroureter, Hypo... |
ORPHA:84 |
Frontometaphyseal Dysplasia |
|
Hydronephrosis, Urethral stenosis, Ureteral obstruction |
ORPHA:1826 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Abnormal posturing, Dysphagia |
OMIM:128100 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... |
ORPHA:466650 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... |
OMIM:270400 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Micropenis, Webbed penis, High anterior hairline, H... |
ORPHA:97360 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Cryptorchidism, Dilatation of the renal pelvis, Stage 5 chronic kidn... |
ORPHA:2044 |
Alternating Hemiplegia Of Childhood |
|
Dehydration |
ORPHA:2131 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Supernumerary nipple |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Supernumerary nipple |
ORPHA:352665 |
Joubert Syndrome With Hepatic Defect |
|
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency |
ORPHA:1454 |
Mercury Poisoning |
|
Interstitial pneumonitis, Acute kidney injury |
ORPHA:330021 |
Spondyloenchondrodysplasia |
|
Proteinuria, Pneumonia, Skin rash, Chronic kidney disease, Hepatitis, Hematuria, Arthritis, Juven... |
ORPHA:1855 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
OMIM:600383 |
Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
ORPHA:1830 |
Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T... |
ORPHA:90068 |
Tetrasomy 12P |
|
Sparse hair, Cachexia, Sparse eyebrow |
ORPHA:884 |
Flynn-Aird Syndrome |
|
Alopecia, Cachexia |
ORPHA:2047 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Renal insufficiency, Hypospadias, Renal cortical cysts, Hyperechogenic kidneys, Recurrent aspirat... |
ORPHA:397715 |
Fabry Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Lymphedema, Hematuria, Nephrotic syndrome, Arth... |
ORPHA:324 |
Coffin-Siris Syndrome 1 |
|
Sparse scalp hair, Dry hair, Hydroureter, Hypospadias, Ectopic kidney, Cryptorchidism, Renal hypo... |
OMIM:135900 |
Arboleda-Tham Syndrome |
|
Recurrent urinary tract infections, Highly arched eyebrow, Bilateral cryptorchidism, Recurrent ot... |
OMIM:616268 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, Proximal tubulopathy, Organic a... |
OMIM:619743 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Cryptorchidism, Grade III ... |
OMIM:619522 |
Distal Deletion 10Q |
|
Functional abnormality of the bladder, Horseshoe kidney, Enuresis, Vesicoureteral reflux, Acute k... |
ORPHA:96148 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Elevated circulating C-reactive protein concentration, Perianal abs... |
OMIM:301074 |
Desmoplastic Small Round Cell Tumor |
|
Anemia, Cachexia, Weight loss |
ORPHA:83469 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Gabriele-De Vries Syndrome |
|
Sparse eyebrow, Cryptorchidism, Hydronephrosis, Frontal upsweep of hair, Ureteropelvic junction o... |
ORPHA:506358 |
Malignant Atrophic Papulosis |
|
Peritonitis, Arteritis, Abnormality of the lower urinary tract, Weight loss |
ORPHA:679 |
Cranioectodermal Dysplasia 4 |
|
Recurrent pneumonia, Stage 5 chronic kidney disease |
OMIM:614378 |
Autoimmune Lymphoproliferative Syndrome |
|
Renal insufficiency, Premature ovarian insufficiency, Gastritis, Glomerulonephritis, Hepatitis, U... |
ORPHA:3261 |
Kabuki Syndrome 1 |
|
Ureteropelvic junction obstruction, Crossed fused renal ectopia, Highly arched eyebrow, Sparse ey... |
OMIM:147920 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Nephrotic syndrome, Recurrent skin infections, Hydronephrosis, Cryptorchidism |
OMIM:601776 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Bronchiectasis, Weight loss |
ORPHA:411703 |
Cockayne Syndrome |
|
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
Familial Dysautonomia |
|
Glomerulopathy, Renal insufficiency, Abnormality of the kidney |
ORPHA:1764 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Cryptorchidism, Dehydration, Oligohydramnios |
ORPHA:96191 |
Lacrimoauriculodentodigital Syndrome |
|
Cryptorchidism, Renal hypoplasia, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Ve... |
ORPHA:2363 |
Hereditary Fructose Intolerance |
|
Renal insufficiency, Chronic kidney disease |
ORPHA:469 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Anorexia, Elevated circulating C-reactive protein concentr... |
OMIM:619381 |
Juvenile Dermatomyositis |
|
Calcinosis, Alopecia, Myositis, Pericarditis, Elevated circulating creatine kinase concentration,... |
ORPHA:93672 |
Cardiac Valvular Dysplasia 1 |
|
Urethral diverticulum, Hydroureter, Hydronephrosis |
OMIM:212093 |
1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptor... |
ORPHA:1606 |
Cranioectodermal Dysplasia 1 |
|
Slow-growing hair, Short nail, Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic k... |
OMIM:218330 |
Agel Amyloidosis |
|
Proteinuria, Edema, Xerostomia, Stage 5 chronic kidney disease, Keratoconjunctivitis sicca, Bleph... |
ORPHA:85448 |
Perry Syndrome |
|
Inappropriate behavior, Disinhibition, Weight loss |
OMIM:168605 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Stage 5 chronic kidney disease, Lacticaciduria |
OMIM:618250 |
Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Weight loss, Anemia, Hypoalbuminemia, Constrictive pericarditis, Acute colitis |
ORPHA:67 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Neonatal dea... |
OMIM:265380 |
Wolman Disease |
|
Anemia, Splenomegaly, Cachexia, Bone-marrow foam cells |
ORPHA:75233 |
Pneumocystosis |
|
Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Chr... |
ORPHA:723 |
Charge Syndrome |
|
Hypogonadotropic hypogonadism, Highly arched eyebrow, Cryptorchidism, Horseshoe kidney, Vesicoure... |
ORPHA:138 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Renal insufficiency |
OMIM:226980 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Bronchiectasis, Weight loss |
ORPHA:79127 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Weight loss |
ORPHA:704 |
Acute Lung Injury |
|
Acute pancreatitis, Pneumonia, Elevated circulating C-reactive protein concentration, Increased c... |
ORPHA:178320 |
Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentration, Leukocytosis, Acu... |
ORPHA:36238 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Self-injurious behavior, Cachexia |
ORPHA:371364 |
Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Thyroiditis, Weight loss, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Thr... |
ORPHA:79078 |
Rubinstein-Taybi Syndrome 1 |
|
Broad eyebrow, Hypospadias, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Hirs... |
OMIM:180849 |
Oromandibular Dystonia |
|
Bruxism, Dysphagia, Weight loss |
ORPHA:93958 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Leukocytosis, Renal hypoplasia, Abdominal obesity, Azotemia, Micropenis |
OMIM:619321 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
Anaplastic Thyroid Carcinoma |
|
Dysphagia, Weight loss |
ORPHA:142 |
Camurati-Engelmann Disease |
|
Cachexia, Anorexia, Splenomegaly, Leukopenia, Urinary retention, Slender build, Anemia |
ORPHA:1328 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Brittle hair, Supernumerary nipple, Cryptorchidism, Horseshoe kidney, Patch... |
OMIM:305600 |
Rheumatoid Arthritis |
|
Rheumatoid arthritis, Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Hydron... |
ORPHA:93271 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Homocystinuria |
OMIM:601552 |
Digeorge Syndrome |
|
Renal insufficiency, Acne, Unilateral renal agenesis, Seborrheic dermatitis, Recurrent pneumonia,... |
OMIM:188400 |
Osteogenesis Imperfecta, Type Vii |
|
Hydronephrosis |
OMIM:610682 |
X-Linked Creatine Transporter Deficiency |
|
Abnormal circulating creatine concentration, Hyperactivity, Self-mutilation, Cachexia |
ORPHA:52503 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hypercalcemia, Esophagitis, Weight loss |
ORPHA:913 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Panniculitis, Hemophagocytosis, Weight loss |
ORPHA:86884 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Low anterior hairline, Nephrocalcinosis, Abnor... |
ORPHA:79500 |
Loeffler Endocarditis |
|
Pericarditis, Eosinophilia, Weight loss |
ORPHA:75566 |
Arteriosclerosis, Severe Juvenile |
|
Chronic kidney disease |
OMIM:208060 |
Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Elevated circulat... |
ORPHA:2388 |
Nodular Non-Suppurative Panniculitis |
|
Panniculitis, Inflammatory abnormality of the eye, Weight loss |
ORPHA:33577 |
Short Syndrome |
|
Sparse hair, Alopecia, Weight loss |
ORPHA:3163 |
Vipoma |
|
Ascites, Dehydration |
ORPHA:97282 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Cryptorchidism, Long eyelashes, Micropenis, Hydronephrosis, Renal duplication |
OMIM:180700 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Enthesitis, Uveitis, Weight loss, ... |
ORPHA:85408 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... |
ORPHA:1930 |
Methanol Poisoning |
|
Hyperlipidemia, Addictive alcohol use |
ORPHA:31825 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Myoglobinuria, Ketonuria |
OMIM:616878 |
Campomelic Dysplasia |
|
Hydronephrosis, Hypospadias, Short nail |
OMIM:114290 |
African Trypanosomiasis |
|
Alopecia, Renal insufficiency, Pericarditis, Urinary incontinence, Aggressive behavior, Keratitis... |
ORPHA:3385 |
Kikuchi-Fujimoto Disease |
|
Alopecia, Skin rash, Anorexia, Elevated circulating C-reactive protein concentration, Pustule, My... |
ORPHA:50918 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss |
OMIM:613239 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym... |
OMIM:603041 |
Developmental And Epileptic Encephalopathy 50 |
|
Renal tubular acidosis, Oroticaciduria |
OMIM:616457 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Recurrent urinary tract infections, Hypospadias, Recurrent skin infections, Hy... |
ORPHA:3455 |
Hydrolethalus Syndrome 1 |
|
Stillbirth, Hypospadias, Hydronephrosis |
OMIM:236680 |
Poems Syndrome |
|
Leukonychia, Weight loss, Hypogonadism, Erectile dysfunction, Hypertrichosis |
ORPHA:2905 |
Tsh-Secreting Pituitary Adenoma |
|
Abnormal hair quantity, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadi... |
ORPHA:91347 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k... |
ORPHA:79408 |
Serotonin Syndrome |
|
Acute kidney injury |
ORPHA:43116 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:363700 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Chronic kidney disease |
ORPHA:25 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... |
ORPHA:821 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Autoimmune hemolytic ane... |
OMIM:614162 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Nephrotic syndro... |
OMIM:609049 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
Genitopatellar Syndrome |
|
Sparse scalp hair, Multicystic kidney dysplasia, Cryptorchidism, Micropenis, Hydronephrosis |
OMIM:606170 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Ketonuria |
ORPHA:480864 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated carcinoembryonic antigen level, Anorexia, Elevated circulating alpha-fetoprotein concent... |
ORPHA:100085 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto... |
ORPHA:709 |
Medullary Thyroid Carcinoma |
|
Dysphagia, Weight loss |
ORPHA:1332 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hypospadias, Short nail, Supernumerary nipple, Cryptorchidism, Renal cyst, Duplication of renal p... |
OMIM:312870 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Anorexia, Weight loss |
ORPHA:97287 |
Aspartylglucosaminuria |
|
Chronic otitis media, Arthritis, Aspartylglucosaminuria, Macroorchidism |
ORPHA:93 |
Cranioectodermal Dysplasia 2 |
|
Renal insufficiency, Cholangitis, Polyhydramnios, Recurrent pneumonia, Hydrops fetalis, Renal cyst |
OMIM:613610 |
Budd-Chiari Syndrome |
|
Peritonitis, Cholecystitis, Weight loss |
ORPHA:131 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Granulomatosis, Conjunctivitis, Chronic... |
OMIM:608710 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating alpha-fetoprotein concentration, Weight loss |
ORPHA:90003 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, ... |
ORPHA:90340 |
Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Cryptorchidism, Widow's peak, Stillbirth, Hydronephrosis |
OMIM:304120 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Recurrent pneumonia, Eczema, Hydronephrosis |
OMIM:620330 |
Malignant Hyperthermia Of Anesthesia |
|
Myoglobinuria, Acute kidney injury |
ORPHA:423 |
Aspartylglucosaminuria |
|
Macroorchidism, Aspartylglucosaminuria, Acne |
OMIM:208400 |
Orofaciodigital Syndrome Type 3 |
|
Stage 5 chronic kidney disease |
ORPHA:2752 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Curly hair, Hydronephrosis, Hypoplastic nipples, Renal dysplasia, Hypertrichosis |
ORPHA:480880 |
Scorpion Envenomation |
|
Acute pancreatitis, Ketonuria, Edema, Myocarditis, Glycosuria, Acute kidney injury, Priapism, Pul... |
ORPHA:466677 |
Cockayne Syndrome A |
|
Renal insufficiency, Proteinuria, Cryptorchidism, Irregular menstruation, Hypogonadism, Micropenis |
OMIM:216400 |
Peters-Plus Syndrome |
|
Ureteral duplication, Hypospadias, Cryptorchidism, Renal hypoplasia, Facial hypertrichosis, Hydro... |
OMIM:261540 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Sparse scalp hair, Acne, Anorexia, Leukocytosis, Increased body... |
ORPHA:99889 |
Charge Syndrome |
|
Renal agenesis, Hypogonadotropic hypogonadism, Cryptorchidism, Renal hypoplasia, Horseshoe kidney... |
OMIM:214800 |
Rett Syndrome |
|
Stereotypical hand wringing, Cachexia, Bruxism |
OMIM:312750 |
Nocardiosis |
|
Pericarditis, Osteomyelitis, Pneumonia, Anorexia, Keratitis, Lymphadenitis, Peritonitis, Thyroidi... |
ORPHA:31204 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Cachexia |
ORPHA:93941 |
Neuroendocrine Tumor Of The Colon |
|
Anorexia, Weight loss |
ORPHA:100080 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Agitation, Small for gestational age, Weight loss |
ORPHA:424 |
Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use, Rheumatoid arthritis |
ORPHA:399180 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Unilateral renal agenesis, Cryptorchidism, Stage 2 chronic kidney dise... |
OMIM:620305 |
Glucagonoma |
|
Skin rash, Hypercalcemia, Anorexia, Acanthocytosis, Weight loss, Normochromic anemia, Stomatitis |
ORPHA:97280 |
Neuroendocrine Tumor Of The Rectum |
|
Anorexia, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Anorexia, Weight loss |
ORPHA:100082 |
Cockayne Syndrome B |
|
Renal insufficiency, Micropenis, Proteinuria, Cryptorchidism |
OMIM:133540 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Weight loss |
ORPHA:221098 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Leukocytosis, Addictive alcohol use |
ORPHA:90065 |
Neuroendocrine Tumor Of Stomach |
|
Iron deficiency anemia, Anorexia, Weight loss |
ORPHA:100075 |
Gerstmann-Straussler Disease |
|
Aggressive behavior, Weight loss |
OMIM:137440 |
Johanson-Blizzard Syndrome |
|
Sparse scalp hair, Hypospadias, Urethrovaginal fistula, Cryptorchidism, Frontal upsweep of hair, ... |
OMIM:243800 |
Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Crypt... |
ORPHA:2152 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Mildly elevated creatine kinase, Dysphagia, Weight loss |
OMIM:607459 |
Mucolipidosis Type Ii |
|
Dry hair, Splenomegaly, White hair, Weight loss, Fine hair, Hepatosplenomegaly, Otitis media |
ORPHA:576 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... |
ORPHA:857 |
Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
Williams-Beuren Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Abnormal renal morphology, Urethral sten... |
OMIM:194050 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Cryptorchidism, Hydrocele testis... |
ORPHA:261537 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Abnormal circulating A-type atrial natriuretic pep... |
ORPHA:57777 |
Leptospirosis |
|
Pericarditis, Skin rash, Cellular urinary casts, Hepatitis, Uveitis, Optic neuritis, Pleural effu... |
ORPHA:509 |
Cornelia De Lange Syndrome |
|
Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidi... |
ORPHA:199 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
3-Methylglutaconic aciduria, Ethylmalonic aciduria, Aciduria |
OMIM:203700 |
Gallbladder Neuroendocrine Tumor |
|
Cholecystitis, Anorexia, Weight loss |
ORPHA:100086 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Weight loss |
ORPHA:99819 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Highly arched eyebrow, Cryptorch... |
ORPHA:261552 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Lynch Syndrome |
|
Attention deficit hyperactivity disorder, Weight loss |
ORPHA:144 |
Eisenmenger Syndrome |
|
Renal insufficiency, Pedal edema, Peripheral edema, Bacterial endocarditis, Ascites, Generalized ... |
ORPHA:97214 |
Viss Syndrome |
|
Sparse scalp hair, Alopecia, Chronic gastritis, Eczema, Atopic dermatitis, Hydronephrosis, Hirsutism |
OMIM:619472 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Increased urinary glycerol, Ketonuria |
ORPHA:247598 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Weight loss |
ORPHA:747 |
Townes-Brocks Syndrome 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Cryptorchidism, R... |
OMIM:107480 |
Polycythemia Vera |
|
Splenomegaly, Acute leukemia, Weight loss |
ORPHA:729 |
Carney-Stratakis Syndrome |
|
Dysphagia, Weight loss |
ORPHA:97286 |
Somatostatinoma |
|
Hypochromic microcytic anemia, Hypercalcemia, Anorexia, Weight loss |
ORPHA:97283 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis, Weight loss |
ORPHA:309031 |
Malt Lymphoma |
|
Posterior uveitis, Anemia, Weight loss |
ORPHA:52417 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Cachexia, Patent ductus arteriosus, Hypoalbuminemia, Anemia |
ORPHA:79076 |
Familial Pancreatic Carcinoma |
|
Hepatosplenomegaly, Anorexia, Weight loss |
ORPHA:1333 |
Costello Syndrome |
|
Renal insufficiency, Polyhydramnios |
OMIM:218040 |
Unilateral Polymicrogyria |
|
Pseudobulbar paralysis, Abnormal posturing |
ORPHA:268943 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Oculopharyngodistal Myopathy 1 |
|
Elevated circulating creatine kinase concentration, Dysphagia, Weight loss |
OMIM:164310 |
Tropical Pancreatitis |
|
Chronic calcifying pancreatitis, Weight loss |
ORPHA:103918 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Aspiration pneumonia, Dysphagia, Weight loss |
ORPHA:2020 |
Dermatomyositis |
|
Abnormal hair quantity, Pericarditis, Abnormal eosinophil morphology, Myocarditis, Weight loss, A... |
ORPHA:221 |
Ppoma |
|
Hypercalcemia, Anorexia, Weight loss |
ORPHA:97278 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Hepatosplenome... |
ORPHA:2072 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Cachexia |
ORPHA:220295 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Hashimoto thyroiditis, Cachexia |
ORPHA:109 |
Acute Liver Failure |
|
Acute kidney injury, Skin rash, Hepatitis, Cerebral edema |
ORPHA:90062 |
Seckel Syndrome |
|
Sparse scalp hair, Cachexia |
ORPHA:808 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Female hypogonadism, Alopecia totalis, Osteoarthritis, Loss of eyelashes, Weight ... |
ORPHA:740 |
Proteus Syndrome |
|
Thymus hyperplasia, Cachexia, Splenomegaly, Long penis, Renal cyst, Generalized hirsutism |
ORPHA:744 |
Grfoma |
|
Hypercalcemia, Anorexia, Weight loss |
ORPHA:97261 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypospadias, Highly arched eyebrow, Low anterior hairline, Hirsutism |
OMIM:220111 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Weight loss |
ORPHA:677 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Anorexia |
ORPHA:1969 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Chronic kidney disease, Septic arthritis, Recurrent aspiration pneumonia |
ORPHA:642 |
Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Otit... |
ORPHA:64 |
Marfan Syndrome |
|
Attention deficit hyperactivity disorder, Arthralgia/arthritis, Slender build, Cachexia |
ORPHA:558 |
Stickler Syndrome |
|
Cachexia, Osteoarthritis, Uveitis, Chronic otitis media, Slender build |
ORPHA:828 |
Norrie Disease |
|
Cachexia, Self-injurious behavior, Attention deficit hyperactivity disorder, Failure to thrive, A... |
ORPHA:649 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Hypoalbuminemia, Eosinophilia, Cachexia |
ORPHA:75565 |