Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... |
OMIM:614817 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Xanthin... |
ORPHA:3467 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflamm... |
ORPHA:49041 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Short stature, Rhizomelia, Elevat... |
OMIM:614376 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Ketonuria, Hypouricemia, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:227810 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon... |
OMIM:251000 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst,... |
OMIM:617056 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Hereditary Coproporphyria |
|
Hyponatremia, Dark urine, Abnormal circulating porphyrin concentration, Porphyrinuria, Atypical s... |
ORPHA:79273 |
Cystinuria |
|
Renal insufficiency, Nephrolithiasis, Hematuria, Hyperuricemia, Abnormality of amino acid metabolism |
ORPHA:214 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Proteinuria, Hypouricemia, Short ... |
OMIM:616026 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac... |
OMIM:277900 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr... |
ORPHA:79303 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Small for gestational age, Miscarriage, Skin rash, Chron... |
ORPHA:330015 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Cholestasis, Tubulointers... |
OMIM:615862 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ... |
OMIM:617595 |
Preeclampsia |
|
Elevated hepatic transaminase, Increased body mass index, Proteinuria, Abnormality of the kidney,... |
ORPHA:275555 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Cystinuria, Growth delay, Hypocalcemia, Failure to thrive |
ORPHA:163693 |
Cystathioninuria |
|
Cystathioninemia, Cystathioninuria, Nephrolithiasis |
ORPHA:212 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Increase... |
OMIM:618892 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Absent urinary urothione... |
OMIM:252150 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia... |
ORPHA:470 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Xanthinuria, Growth dela... |
OMIM:252160 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
Hypotonia-Cystinuria Syndrome |
|
Growth delay, Failure to thrive, Nephrolithiasis, Cystinuria |
ORPHA:163690 |
Dent Disease |
|
Elevated circulating creatine kinase concentration, Nephrocalcinosis, Aminoaciduria, Low-molecula... |
ORPHA:1652 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T c... |
ORPHA:760 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Cholestasis, Obesity, Tubulointerstitial nephritis, Hepatic fibro... |
OMIM:616629 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Low levels of vitamin D, He... |
ORPHA:79259 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Hypoplasia of penis, Hypospadias, Short stature, Nephrolithiasis, Delayed puberty, Shagreen patch |
ORPHA:1816 |
Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Renal dysplasia |
OMIM:610896 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... |
OMIM:614723 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:256100 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... |
OMIM:143880 |
Lesch-Nyhan Syndrome |
|
Renal insufficiency, Gout, Hematuria, Hyperuricemia, Anemia |
ORPHA:510 |
Hypersulfaturia |
|
Increased urinary sulfate, Nephrolithiasis |
OMIM:620372 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt... |
OMIM:613845 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Renal insufficiency, Hype... |
OMIM:203800 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Mesangial hypercellularity,... |
ORPHA:329918 |
Glycogen Storage Disease V |
|
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:232600 |
Hypotonia-Cystinuria Syndrome |
|
Postnatal growth retardation, Nephrolithiasis, Cystinuria, Hypocalcemia, Failure to thrive, Cysti... |
OMIM:606407 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Renal interstitial edem... |
ORPHA:91500 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine... |
ORPHA:94086 |
Hypouricemia, Renal, 2 |
|
Hypouricemia, Nephrolithiasis |
OMIM:612076 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia,... |
ORPHA:37042 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Nephrolithiasis |
OMIM:222900 |
Analbuminemia |
|
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... |
OMIM:616000 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... |
OMIM:603860 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise... |
ORPHA:368 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Hypouricemia, Increased urinary taurine, Hypertaurinemia, Neonatal death, Hypocystinemia |
OMIM:615501 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Hypouricemia, Incre... |
OMIM:613179 |
Castleman Disease |
|
Renal insufficiency, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Jau... |
ORPHA:160 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Obesity, Renal cyst |
OMIM:615987 |
5-Oxoprolinase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Enterocolitis, Prolinuria, Calcium oxalate nephr... |
OMIM:260005 |
2p15-16.1 microdeletion syndrome |
|
Camptodactyly of finger, Hydronephrosis |
DECIPHER:70 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormal blood ion concentration, Renal cyst, Gastrointestinal inflammation, ... |
ORPHA:79404 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Becker Muscular Dystrophy |
|
Elevated hepatic transaminase, Abnormal urinary color, Myoglobinuria, Elevated circulating creati... |
ORPHA:98895 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Short stature, Abnormal den... |
ORPHA:251004 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612925 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Short stature, Stage 5 chronic kidney disease, Renal cyst, O... |
OMIM:615993 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Short stature, Nephrolithiasis |
ORPHA:1837 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... |
OMIM:606966 |
Crome Syndrome |
|
Short stature, Renal tubular epithelial necrosis |
OMIM:218900 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology |
OMIM:609886 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Death in infancy, Proteinuria, Short stature, Hematuria, Tubulointerstitial nephritis, Death in c... |
OMIM:616901 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
Macdermot-Winter Syndrome |
|
Intrauterine growth retardation, Camptodactyly of finger, Hydronephrosis, Death in infancy |
OMIM:247990 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i... |
OMIM:232800 |
Glycogen Storage Disease Iv |
|
Portal hypertension, Hepatosplenomegaly, Cirrhosis, Hepatic failure, Arthrogryposis multiplex con... |
OMIM:232500 |
Rudiger Syndrome |
|
Death in infancy, Inguinal hernia, Ureterovesical stenosis, Flexion contracture, Micropenis |
OMIM:268650 |
Dubin-Johnson Syndrome |
|
Abnormal urinary color, Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abno... |
ORPHA:234 |
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 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Generalized lipodystrop... |
OMIM:612526 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Short stature, High serum calcitriol, Increased circulating beta-C-terminal te... |
ORPHA:157215 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Elevated hepatic transaminase, Chronic kidney disease, Abnormal tubulointerstitial morphology, Ch... |
OMIM:602114 |
Stiff Skin Syndrome |
|
Lipoatrophy, Abnormal circulating lipid concentration, Short stature, Nephrolithiasis |
ORPHA:2833 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... |
ORPHA:54057 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Postnatal growth retardation, Flexion contracture, Elevated circulatin... |
OMIM:616733 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Short stature, High serum calcitriol, Chronic kidney dise... |
OMIM:300009 |
Hypocalcemia, Autosomal Dominant 1 |
|
Short stature, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia,... |
OMIM:601198 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnormal circulating ... |
ORPHA:100924 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Hyperglycinuria |
|
Hyperglycinuria, Calcium oxalate nephrolithiasis |
OMIM:138500 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Skin rash, Increased total bilirubin |
ORPHA:90036 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Inguinal hernia, Nephrolithiasis, Hematuria, Umbilical hernia, Nephropathy |
ORPHA:2196 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, Anemi... |
OMIM:246450 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... |
ORPHA:3337 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Abnormal urinary color, Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90037 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Elevated hepatic transaminase, Renal insufficiency, Myositis, Recurrent myoglobinuria... |
ORPHA:99845 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... |
ORPHA:730 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Obesity |
OMIM:615995 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Malar rash... |
ORPHA:93552 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Hyperammonemia, Failure to thrive, Anemia |
ORPHA:28 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612924 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili... |
ORPHA:139402 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Obesity |
OMIM:615991 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Short stature, High serum calcitriol, Chronic kidney disease, Nephrolithiasi... |
OMIM:300554 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Nephrolithiasis |
OMIM:301060 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Failure to thrive, Tubulointerstitial fibrosis |
OMIM:263000 |
Camos Syndrome |
|
Nephrotic syndrome, Renal insufficiency |
ORPHA:83472 |
Cold Agglutinin Disease |
|
Splenomegaly, Abnormal urinary color, Hemolytic anemia, Hepatomegaly |
ORPHA:56425 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Postnatal growth retardation, Hydroureter, Nephrolithiasis |
OMIM:617219 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Short stature, Hep... |
OMIM:232220 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Hyperuri... |
ORPHA:261222 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Short stature, Hyperlipidemia, Delayed ... |
OMIM:232200 |
Idiopathic Hypercalciuria |
|
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... |
ORPHA:2197 |
Nephronophthisis |
|
Renal insufficiency, Anemia |
ORPHA:655 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Malaria |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Acut... |
ORPHA:673 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated hepatic transaminase, Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Thrombocytopen... |
ORPHA:340 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Absence of renal cor... |
OMIM:120330 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Jaundice, Schistocytos... |
OMIM:274150 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... |
OMIM:248250 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Hyperuricemia... |
ORPHA:411536 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial inflamma... |
OMIM:619113 |
Hyperbiliverdinemia |
|
Elevated circulating biliverdin concentration, Cholestasis, Decreased liver function, Cholelithia... |
OMIM:614156 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Nephrolithiasis, Elevated circulating creatine kinase concentration |
ORPHA:352447 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Abnormal circulating calcium concentration, High serum calcitriol, Hyper... |
OMIM:241530 |
Lesch-Nyhan Syndrome |
|
Short stature, Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuri... |
OMIM:300322 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Nephrolithiasis |
OMIM:619827 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Eosinophilia, Sinusitis, Increased in... |
ORPHA:183 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase conc... |
OMIM:614034 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... |
OMIM:162000 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ... |
OMIM:245900 |
Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis |
OMIM:278300 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Gastritis, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dy... |
ORPHA:31826 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti... |
OMIM:619644 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Short stature, Nephrolithiasis |
OMIM:620023 |
X-Linked Intellectual Disability, Schimke Type |
|
Hip contracture, Failure to thrive in infancy, Short stature, Ankle flexion contracture, Elbow fl... |
ORPHA:85285 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Recurr... |
OMIM:145001 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Progressive... |
OMIM:608709 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc... |
OMIM:308990 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ... |
ORPHA:488627 |
Hyperparathyroidism 4 |
|
Nephrolithiasis, Hypercalcemia |
OMIM:617343 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Hyperuricemia, Acute kidney ... |
ORPHA:411543 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Growth delay, Ren... |
OMIM:243910 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Hemolytic Anemia, Congenital, X-Linked |
|
Dark urine, Hemolytic anemia, Jaundice |
OMIM:301015 |
Relapsing Fever |
|
Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio... |
ORPHA:91547 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri... |
ORPHA:79233 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Renal insufficiency, Elevated circulating creatine kinase concentration, Hypera... |
OMIM:619386 |
Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia |
ORPHA:2134 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly, Neutropenia,... |
OMIM:617303 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Inguinal hernia, Short stature, Abnormality of the kidney, Tubulointerstitial nephritis, Enuresis... |
ORPHA:459061 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Hyperammonemia, Renal tubular dysfunction, G... |
ORPHA:289916 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis, Thrombocytopenia |
ORPHA:3327 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, F... |
ORPHA:79312 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Large for gestational age, Patent ductus arteriosus, Hypercalciur... |
OMIM:615398 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,... |
OMIM:137920 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Calcium oxalate nephrolithiasis |
OMIM:248000 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... |
ORPHA:35710 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Short stature, Hypocitraturia, Nephrolith... |
ORPHA:18 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Microscopic hematuria |
ORPHA:2613 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight... |
ORPHA:890 |
Hyperuricemia, Hprt-Related |
|
Renal insufficiency, Nephrolithiasis, Hyperuricosuria, Hyperuricemia, Podagra |
OMIM:300323 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Claw hand deformity, Elevated circulating creatine kinase concentration, Proteinuria, Stage 5 chr... |
OMIM:614455 |
Dent Disease 2 |
|
Short stature, Elevated circulating creatine kinase concentration, Elevated circulating aspartate... |
OMIM:300555 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Knee flexion contractur... |
OMIM:608836 |
Primary Pulmonary Hypoplasia |
|
Ureteral stenosis, Failure to thrive, Increased circulating surfactant protein level, Intrauterin... |
ORPHA:2257 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Abnormal circulating lipid concentration, Proteinuria |
ORPHA:225 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Impairment of galactose metabolism, Weight loss, Growth del... |
ORPHA:79238 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia |
OMIM:612286 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Patent ductus arteriosus, Renal hypoplasia, Obesity, Hepatic steatosis, Hydr... |
OMIM:615996 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia |
OMIM:612287 |
Hartnup Disease |
|
Abnormal urinary color, Skin rash, Short stature, Infectious encephalitis, Neutral hyperaminoacid... |
ORPHA:2116 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Proteinuria, Scarring, Foot joi... |
ORPHA:90321 |
Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria, Coombs-positive hemolytic an... |
ORPHA:90035 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le... |
ORPHA:90033 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Thrombocytopenia, Pat... |
ORPHA:2123 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Elevated circulat... |
ORPHA:900 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneu... |
OMIM:613779 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:620235 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Nephrolithiasis, Weight loss, Arth... |
OMIM:617321 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Nephrosialidosis |
|
Renal insufficiency, Bone-marrow foam cells, Nephrotic syndrome, Death in childhood, Nephropathy |
OMIM:256150 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Congenita... |
ORPHA:2260 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Short stature, Nephrolithiasis, Abnormal adipose tissue morphology, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Gitelman Syndrome |
|
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Iron deficiency ... |
ORPHA:358 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperlysinuria, Anemia |
OMIM:238700 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto... |
OMIM:598500 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic kidney d... |
ORPHA:79147 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the spleen, Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Dark yellow urine, Conjug... |
ORPHA:30391 |
Essential Fructosuria |
|
Abnormal urine carbohydrate level, Abnormal erythrocyte enzyme level, Impairment of fructose meta... |
ORPHA:2056 |
Congenital Erythropoietic Porphyria |
|
Anisocytosis, Abnormal circulating porphyrin concentration, Scarring alopecia of scalp, Red-brown... |
ORPHA:79277 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss |
|
Renal tubular acidosis, Nephrolithiasis |
OMIM:267300 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... |
OMIM:256300 |
Lessel-Kubisch Syndrome |
|
Renal insufficiency, Short stature, Renal hypoplasia |
OMIM:618681 |
Flotch Syndrome |
|
Inflammatory abnormality of the eye, Nephrolithiasis, Blepharitis |
ORPHA:2045 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Small for gestational age, Short stature, Urolithiasis, Gout, H... |
OMIM:300661 |
Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:615573 |
Myh9-Related Disease |
|
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Increased mean platelet volume, ... |
ORPHA:182050 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... |
ORPHA:84090 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopeni... |
ORPHA:27 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Weigh... |
ORPHA:90060 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Severe short stature, Elevated circulating creatinine concentration, Decreased glome... |
OMIM:242530 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati... |
ORPHA:90041 |
Cat-Eye Syndrome |
|
Short stature, Renal hypoplasia/aplasia, Abnormal localization of kidney, Intrauterine growth ret... |
ORPHA:195 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Rec... |
OMIM:154230 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Intrauterine growth retardation... |
OMIM:613861 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Arthritis, Malar rash, Nephritis, Th... |
OMIM:152700 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Red urine, Corneal scarrin... |
OMIM:263700 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... |
OMIM:145981 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Postnatal growth retardation, Elevated circulating creatinine con... |
OMIM:620366 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Paten... |
ORPHA:33001 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha... |
OMIM:613095 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Hypochromic microcytic ... |
OMIM:619147 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Short stature, Elevated circulating creatine kinase concentration, Th... |
ORPHA:2785 |
Muckle-Wells Syndrome |
|
Renal insufficiency, Short stature, Maculopapular exanthema, Elevated circulating C-reactive prot... |
OMIM:191900 |
Plasminogen Deficiency, Type I |
|
Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis |
OMIM:217090 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Nodular regenerative hyperplasia of liver, ... |
ORPHA:247691 |
Complement Factor H Deficiency |
|
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... |
OMIM:609814 |
Acute Intermittent Porphyria |
|
Hyponatremia, Dark urine, Renal insufficiency, Urinary incontinence, Dysuria, Porphyrinuria, Incr... |
ORPHA:79276 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Glycogen Storage Disease Xi |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
OMIM:612933 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Short stature, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M... |
OMIM:618176 |
Sarcoidosis |
|
Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hemo... |
ORPHA:797 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Recurrent urinary... |
OMIM:615559 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly,... |
OMIM:619487 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Short stature, Miscarriage, Stage 5 chronic kidney disease, Renal cyst, Neonata... |
OMIM:613390 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Acne, Dorsocervical fat pad, Hyperlipidemia, Nephrolithiasis, I... |
ORPHA:189427 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Short stature, Chronic k... |
ORPHA:97362 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hepatomegaly, Elevated hepatic transaminase, Hypospadias, Elevated ... |
OMIM:301056 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... |
ORPHA:36234 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Growth delay, Increased blood urea nitrogen, Glome... |
OMIM:223900 |
Senior-Loken Syndrome |
|
Short stature, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney diseas... |
ORPHA:3156 |
Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Chronic mucocutaneous candidiasis, Hyperphosphatemia, Conjunctivitis, Hy... |
ORPHA:36913 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti... |
ORPHA:447 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hepatic failure, Elevated circulating creatinine concentration, Incre... |
OMIM:617872 |
Image Syndrome |
|
Intrauterine growth retardation, Hypospadias, Hydronephrosis |
ORPHA:85173 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Small for gestational age, Elevated circulating aspartate aminotran... |
OMIM:617093 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia, Anemia |
ORPHA:2668 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Short stature, Pneumonia, Autoimmune thrombocytopenia, T lymphocytopenia, Recurrent otitis media,... |
OMIM:607944 |
Marcus-Gunn Syndrome |
|
Postnatal growth retardation, Nephrolithiasis |
ORPHA:91412 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Chronic otitis... |
ORPHA:534 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormal... |
ORPHA:95455 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Inguinal hernia, Rhizomelia, Malformation of the hepatic ductal plate, Renal magnes... |
OMIM:218330 |
Babesiosis |
|
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Hepatic ... |
ORPHA:108 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ... |
ORPHA:289390 |
Johanson-Blizzard Syndrome |
|
Death in infancy, Hypoplasia of penis, Hypospadias, Short stature, Abnormality of the pancreas, I... |
ORPHA:2315 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthritis, Anemia |
ORPHA:375 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Enamel hypomineralization, B... |
ORPHA:47159 |
Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... |
ORPHA:439232 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Inguinal hernia, Ureteral stenosis, Short stature, Growth delay, Abnormality of the urinary syste... |
ORPHA:2719 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, L... |
OMIM:124000 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Renal ... |
ORPHA:324525 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Stomatitis, Chronic pancreati... |
OMIM:232240 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Acute hepatic failure, Renal insufficiency, Hepatomegaly, Elevated hepatic transami... |
ORPHA:1667 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:261670 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Rhiniti... |
ORPHA:230 |
Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T... |
ORPHA:90068 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis |
OMIM:619365 |
Congenital Myopathy 19 |
|
Congenital contracture, Renal atrophy, Hydronephrosis |
OMIM:618578 |
Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ur... |
OMIM:304150 |
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 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Hypospadias, Camptodactyly of finger, Ureteral obstruction, Failure to thrive, Hydro... |
ORPHA:90652 |
Jeune Syndrome |
|
Renal insufficiency, Short stature, Abnormality of the liver, Nephronophthisis, Nephropathy |
ORPHA:474 |
6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydronephrosis, Hernia |
ORPHA:251046 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Renal insufficiency, Hypercalcemia, Renal salt wasting, Decrease... |
ORPHA:95409 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
Hepatoerythropoietic Porphyria |
|
Hemolytic anemia, Recurrent bacterial skin infections, Scarring, Abnormal circulating porphyrin c... |
ORPHA:95159 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:603909 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... |
ORPHA:94059 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... |
OMIM:269700 |
Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Nephrolithiasis, ... |
ORPHA:143 |
Laurence-Moon Syndrome |
|
Renal insufficiency, Hypoplasia of penis, Short stature, Congenital hepatic fibrosis, Obesity, Di... |
ORPHA:2377 |
Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... |
OMIM:609583 |
Hyperprolinemia Type 2 |
|
Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Reduced circulating vitam... |
ORPHA:79101 |
8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Leukocytosis, Jaundic... |
ORPHA:20 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Hypercalcemia, Weight loss |
ORPHA:97289 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... |
ORPHA:84081 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Hydroureter, Hydronephrosis |
OMIM:618240 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Death in infancy, Thrombocytopenia, Patent ductus arteriosus, Elevated circulating ... |
OMIM:608104 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... |
ORPHA:93111 |
Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
ORPHA:2364 |
Nephronophthisis 16 |
|
Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Cholestasis, Perip... |
OMIM:615382 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
Thyrocerebroretinal Syndrome |
|
Nephritis, Thrombocytopenia |
OMIM:274240 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia, Nephrolithiasis |
ORPHA:369929 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Biliary cirrho... |
ORPHA:227990 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato... |
OMIM:276700 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... |
ORPHA:93110 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypokalemia, Nephrolithiasis, Abdominal obesity, Obesity |
OMIM:219090 |
Alg1-Cdg |
|
Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia, Decreased li... |
ORPHA:79327 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypokalemia, Nephrolithiasis, Decreased circulating renin level |
OMIM:615474 |
Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid... |
OMIM:300653 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:270150 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... |
ORPHA:1046 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Nephrolithiasis, ... |
ORPHA:99880 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:611773 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Thrombocytosis |
ORPHA:134 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Hyper... |
ORPHA:713 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia... |
OMIM:277400 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Short stature, Elevated circulating creatinine concentration, Growth delay, Gl... |
OMIM:615605 |
Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Abnormality of folate metabolism, Abnormal circulating histidine concentrat... |
ORPHA:51208 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... |
OMIM:615285 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Gro... |
ORPHA:541423 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl... |
ORPHA:29073 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciuria, Pancreatitis |
OMIM:145980 |
Pseudo-Torch Syndrome 3 |
|
Death in infancy, Proteinuria, Increased circulating ferritin concentration, Leukocytosis, Lympha... |
OMIM:618886 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Biliary cirrho... |
ORPHA:227982 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Short stature, Horseshoe kidney, Camptodactyly, Hydronephrosis |
OMIM:272950 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Failure to thrive in infancy, Short stature, Rhizomelia, Hemoly... |
OMIM:611209 |
Lethal Infantile Mitochondrial Myopathy |
|
Fatal liver failure in infancy, Renal insufficiency |
ORPHA:254857 |
Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Short stature, Unilateral renal agenesis, Patent ductus arteriosus, Ch... |
OMIM:609757 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... |
OMIM:608594 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Short stature, Macular scar, Hydroxyprolinemia, Hypercal... |
OMIM:239000 |
Senior-Loken Syndrome 4 |
|
Anemia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Inguinal hernia, Recurrent skin infections, Abnormal mesentery morphology, Functional abnormality... |
ORPHA:2953 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia, Growth delay, Myoglobinu... |
ORPHA:57 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Abnormal erythrocyte enzyme level, Hypouricemia |
ORPHA:1187 |
Distal Duplication 6P |
|
Short stature, Renal hypoplasia, Abnormality of the urinary system, Hernia, Intrauterine growth r... |
ORPHA:1745 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Growth delay, Hydron... |
OMIM:222300 |
Primary Hyperoxaluria |
|
Elevated hepatic transaminase, Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic ... |
ORPHA:416 |
Acrorenal Syndrome |
|
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia |
ORPHA:971 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Short stature, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Ne... |
OMIM:301006 |
Recombinant Chromosome 8 Syndrome |
|
Postnatal growth retardation, Patent ductus arteriosus, Growth delay, Camptodactyly, Joint contra... |
OMIM:179613 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Patent ductus arteriosus, Hydronephrosis |
OMIM:619797 |
Frontometaphyseal Dysplasia |
|
Interphalangeal joint contracture of finger, Camptodactyly of finger, Ureteral obstruction, Ureth... |
ORPHA:1826 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Short stature, Urinary incontinence, Iron deficiency ane... |
OMIM:618885 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Neurogenic bladder, Death in infancy, Short stature, Elevated circulating creatine ... |
OMIM:608779 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Inguinal hernia, Hydronephrosis |
OMIM:235760 |
Mirizzi Syndrome |
|
Dark urine, Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Hyperb... |
ORPHA:521219 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropa... |
ORPHA:100024 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated hepatic transaminase, Myoglobinuria, Elevated circulating creatinine concentration, Elev... |
OMIM:620138 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
Mucopolysaccharidosis, Type X |
|
Disproportionate short-trunk short stature, Nephrolithiasis, Dermatan sulfate excretion in urine |
OMIM:619698 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... |
ORPHA:158057 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Trimethylaminuria |
|
Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia |
OMIM:602079 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Neonatal death, Intrahepatic bi... |
OMIM:619534 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Lymphopenia, Hypertriglyceridemia, Proteinuria, Mesangial hypercellu... |
OMIM:617575 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Death in infancy, Renal hypoplasia, Renal cyst, Renal tubular ... |
OMIM:614922 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Inguinal hernia, Short stature, Portal hypertension, Flexion contracture, He... |
ORPHA:440713 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:609057 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Hepatoblastoma,... |
ORPHA:116 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Elevated circulating C-reactive protein concentration, Hypereosi... |
ORPHA:449400 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency |
OMIM:249660 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic kidney disease... |
OMIM:166300 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:151660 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis... |
OMIM:208500 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... |
ORPHA:99879 |
Intermediate Uveitis |
|
Anterior uveitis, Psoriasiform dermatitis, Macular scar, Tubulointerstitial nephritis, Optic neur... |
ORPHA:279914 |
Gapo Syndrome |
|
Growth delay, Umbilical hernia, Short stature, Nephrolithiasis |
ORPHA:2067 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Short stature, Abnormal urine sodium concentration, Nephrocalcinosis, Hypoka... |
ORPHA:320 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Proteinuria, Elevated circulating creatine kinase co... |
ORPHA:94093 |
Helix Syndrome |
|
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria |
OMIM:617671 |
Acquired Ichthyosis |
|
Renal insufficiency, Recurrent skin infections |
ORPHA:454 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Short stature, Portal hypertension, Renal tubular dysfunction, ... |
ORPHA:213 |
Gapo Syndrome |
|
Growth delay, Hepatomegaly, Umbilical hernia, Tubulointerstitial fibrosis |
OMIM:230740 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Short stature, Unilateral renal agenesis, Acute leukemia |
ORPHA:281090 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Hypermagnesemia, Growth dela... |
ORPHA:469 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Short stature, Decreased body weight, Vesicoureteral reflux, Arthrogryposis multiplex congenita, ... |
OMIM:618265 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Short stature, Rhizomelia, Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney di... |
OMIM:617661 |
Liddle Syndrome |
|
Nephropathy, Renal insufficiency, Hypokalemia |
ORPHA:526 |
Prune Belly Syndrome |
|
Recurrent urinary tract infections, Multicystic kidney dysplasia, Renal insufficiency, Hydrourete... |
ORPHA:2970 |
Hereditary Hemorrhagic Telangiectasia |
|
Portal hypertension, Microcytic anemia, Nephrolithiasis, Hematuria, Cholecystitis, Cirrhosis, Cho... |
ORPHA:774 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic... |
OMIM:614377 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Failure to thrive, Short stature, Functional abnormality of the... |
ORPHA:223 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Short stature, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormalit... |
ORPHA:1834 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Elevated circulating aspartate aminotransf... |
ORPHA:2088 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... |
OMIM:619111 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hematuria, Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hyperuricemia, Hyperalan... |
ORPHA:348 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Jaundice... |
OMIM:229600 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating aspartate aminot... |
OMIM:614921 |
Hand-Foot-Genital Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Miscarriage, Abnormality of the urethra, Vesicou... |
ORPHA:2438 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Joubert Syndrome 37 |
|
Hepatomegaly, Short stature, Obesity, Micropenis, Hydronephrosis |
OMIM:619185 |
Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration |
OMIM:160010 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Inguinal hernia, Renal hypoplasia, Vesicoureteral reflux, Failure to thrive, Hydronephrosis |
OMIM:613735 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Patent ductus arteriosus, Hydronephrosis, Increased mean platelet volume |
OMIM:300048 |
Endove Syndrome, Limb-Brain Type |
|
Neurogenic bladder, Recurrent urinary tract infections, Osteomyelitis, Umbilical hernia, Failure ... |
OMIM:619218 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Pancytopenia, Proteinuria, Small for gestational age, Thrombocytopenia, Disp... |
OMIM:242900 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
15Q Overgrowth Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ureterovesical stenosis, Abn... |
ORPHA:314585 |
Aspartylglucosaminuria |
|
Hepatomegaly, Inguinal hernia, Aspartylglucosaminuria, Splenomegaly, Arthritis, Chronic otitis me... |
ORPHA:93 |
Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Short stature, High serum calcitriol, Generalized aminoaciduria... |
OMIM:613388 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma, Sh... |
ORPHA:538 |
Transcobalamin Deficiency |
|
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... |
ORPHA:859 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... |
ORPHA:91139 |
Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Thrombocytopenia, Weight loss, Hematuria, Neoplasm of the liver, A... |
ORPHA:69077 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Increased inflammatory response, Skin rash, Elevated circulating c... |
ORPHA:542323 |
Amyloidosis, Finnish Type |
|
Nephrotic syndrome, Renal insufficiency |
OMIM:105120 |
Osteogenesis Imperfecta, Type X |
|
Inguinal hernia, Rhizomelia, Short stature, Recurrent pneumonia, Nephrolithiasis, Death in childh... |
OMIM:613848 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Acute colitis, Leukocytosis, Schistocytosis, Elevated circ... |
ORPHA:90038 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Postnatal growth retardation, Splenopancreatic fusio... |
OMIM:269150 |
Schwartz-Jampel Syndrome |
|
Death in infancy, Hip contracture, Inguinal hernia, Short stature, Elevated circulating creatine ... |
ORPHA:800 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:619155 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Superficial dermal p... |
ORPHA:284426 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Inguinal hernia, Short statu... |
OMIM:620141 |
Schimke Immuno-Osseous Dysplasia |
|
Neutropenia, Nephropathy, Nephrotic range proteinuria, Short stature, Minimal change glomerulonep... |
ORPHA:1830 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ... |
OMIM:233450 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Short stature, Splenomegaly, Chronic kidney disease, Obesity, Cholestasis, Hepatic ... |
OMIM:615630 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Abnormal glycosylation, Death in childhood, Intrauterine growth retardation, Micropenis, Failure ... |
OMIM:615597 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Short stature, Eczema, Minimal change glomerulonephriti... |
OMIM:618348 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... |
ORPHA:85445 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Insulin-Resistance Syndrome Type B |
|
Decreased body weight, Proteinuria, Abnormality of body weight, Pneumonia, Skin rash, Abnormal ci... |
ORPHA:2298 |
Al Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab... |
ORPHA:85443 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
Hypophosphatasia, Infantile |
|
Death in infancy, Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hyp... |
OMIM:241500 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Porphyria Variegata |
|
Hyponatremia, Elevated hepatic transaminase, Neurogenic bladder, Scarring, Abnormal circulating p... |
ORPHA:79473 |
Developmental And Epileptic Encephalopathy 50 |
|
Abnormal glycosylation, Acanthocytosis, Oroticaciduria, Schistocytosis, Anisopoikilocytosis, Hype... |
OMIM:616457 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Nocturia, Increased blood urea nitrogen |
OMIM:223360 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Short stature, Obesity, Hyposthenuria, Vesicoureteral reflux, Hypernatremia, ... |
OMIM:615926 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst... |
OMIM:614227 |
Congenital Analbuminemia |
|
Lipodystrophy, Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, H... |
ORPHA:86816 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal insufficiency, Hypoplasia of penis, Pancytopenia, Short stature, Renal hypoplasia, Umbilica... |
ORPHA:85321 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Short stature, Proteinuria, Nephrotic syndrome, Nephropathy, Anemia |
ORPHA:1192 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive... |
ORPHA:247353 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... |
OMIM:610205 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal... |
ORPHA:232 |
Melnick-Needles Syndrome |
|
Omphalocele, Ureteral stenosis, Stillbirth, Recurrent otitis media, Failure to thrive, Hydronephr... |
OMIM:309350 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, Growth delay, 3... |
ORPHA:445038 |
Addison Disease |
|
Hyponatremia, Normocytic anemia, Hypercalcemia, Renal salt wasting, Decreased urinary potassium, ... |
ORPHA:85138 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Nephrocalcinos... |
OMIM:611590 |
Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato... |
ORPHA:101330 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Jaundice, Myocarditis... |
ORPHA:549 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Congenital Myopathy 17 |
|
Failure to thrive in infancy, Renal hypoplasia, Distal arthrogryposis, Ureteropelvic junction obs... |
OMIM:618975 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Severe short stature, Proteinuria, Cachexia, ... |
OMIM:610965 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Death in infancy, Inguinal hernia, Splenomegaly, Pancreatic lymphangiectasis, Hypoc... |
OMIM:235255 |
Netherton Syndrome |
|
Short stature, Eczema, Skin rash, Ectopic kidney, Aminoaciduria, Erythroderma, Hydronephrosis |
ORPHA:634 |
Slc35A2-Cdg |
|
Elevated hepatic transaminase, Abnormal glycosylation, Increased circulating thyroglobulin level,... |
ORPHA:356961 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Short stature, Elevated circulating creatine kinase concentration... |
OMIM:619743 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Inguinal hernia, Postnatal growth retardation, Splenomegaly, Pancreatic lymphangiec... |
ORPHA:1655 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal abscess, ... |
OMIM:612541 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... |
OMIM:134600 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas |
OMIM:134610 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Lymphopenia, Patent ductus arteriosus after premature birth, Short stature,... |
OMIM:618460 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Camptodactyly of finger, Growth delay, Intrauterine growth retardation, Hydr... |
ORPHA:2083 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Elevated urinary catecholamine level, Hypercalcemia, Elevate... |
ORPHA:653 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Growth delay, Hypokal... |
OMIM:617913 |
Trisomy 13 |
|
Patent ductus arteriosus, Abnormality of the ureter, Multiple renal cysts, Hernia, Displacement o... |
ORPHA:3378 |
Pearson Syndrome |
|
Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytos... |
ORPHA:699 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... |
ORPHA:158684 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Tetraploidy |
|
Intrauterine growth retardation, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Viral hepatitis, Splenomegaly, He... |
ORPHA:91138 |
Alkaptonuria |
|
Arthritis, Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate |
OMIM:203500 |
Suleiman-El-Hattab Syndrome |
|
Inguinal hernia, Failure to thrive, Hydronephrosis |
OMIM:618950 |
Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
Stt3B-Cdg |
|
Abnormal glycosylation, Intrauterine growth retardation, Micropenis, Failure to thrive, Thrombocy... |
ORPHA:370924 |
Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Short stature, Skin rash, Camptodactyly of finger, Splenomegaly, Uvei... |
ORPHA:575 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Short stature, Eczema, Thr... |
OMIM:606054 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Miscarriage, Postnatal growth retardation, Elevated amniotic fl... |
ORPHA:96179 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Patent ductus art... |
OMIM:251290 |
Hand-Foot-Genital Syndrome |
|
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... |
OMIM:140000 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... |
OMIM:617021 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr... |
OMIM:607426 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:259900 |
Cockayne Syndrome |
|
Urinary incontinence, Congenital contracture, Hepatomegaly, Renal hypoplasia, Nephrotic syndrome,... |
ORPHA:191 |
Noonan Syndrome 4 |
|
Ureteral duplication, Short stature, Large for gestational age, Hydronephrosis, Thrombocytopenia |
OMIM:610733 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Short stature, Abnormality of amino acid metabolism, Cachexia |
ORPHA:220295 |
Sebocystomatosis |
|
Nephrolithiasis |
ORPHA:841 |
Smith-Lemli-Opitz Syndrome |
|
Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Hepatic steatosis, Penoscrotal hypo... |
OMIM:270400 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Glomerulopathy, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Po... |
ORPHA:2169 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Megaloblastic anemia, Cystathioninuria, Decreased adenosylcobalamin, Hyperhomocystinemia, Neutrop... |
OMIM:277380 |
Leukonychia Totalis |
|
Blepharitis, Nephrolithiasis |
ORPHA:2387 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th... |
OMIM:208540 |
Avian Influenza |
|
Elevated hepatic transaminase, Lymphopenia, Miscarriage, Elevated circulating creatine kinase con... |
ORPHA:454836 |
Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Hyperuricemia, Increased hepatic glycoge... |
OMIM:261750 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Hepatomegaly, Abnormal circulating calcium concentration, Bronchiectasis... |
ORPHA:60025 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Megalo... |
ORPHA:79282 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Dystonia-Aphonia Syndrome |
|
Abnormal urinary odor |
ORPHA:412217 |
Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Recurrent otitis media, Renal hypoplasia, Unilateral renal agenesis |
OMIM:618494 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Short stature, Patent ductus arteriosus, Urethral stenosis, ... |
ORPHA:261290 |
Diabetic Embryopathy |
|
Ureteral duplication, Renal hypoplasia/aplasia, Abnormality of the pancreas, Micropenis, Hydronep... |
ORPHA:1926 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Inguinal hernia, Foot joint contra... |
ORPHA:444072 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postnatal growth retardation, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholesteno... |
OMIM:302960 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Growth delay, Failure to thrive, Hydronephrosis |
ORPHA:488613 |
Cloacal Exstrophy |
|
Omphalocele, Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Horsesho... |
ORPHA:93929 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Short stature, Stage 5 c... |
OMIM:617730 |
Gabriele-De Vries Syndrome |
|
Intrauterine growth retardation, Ureteropelvic junction obstruction, Distal arthrogryposis, Hydro... |
OMIM:617557 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Death in infancy, Hypospadias, Short stature, Jaundic... |
ORPHA:912 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Large for gestational age, Patent ductus arteriosus, Flexion contractu... |
ORPHA:314588 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Hepatoblastoma, Pancreatic hyperplasia, Nephrolithiasis, Renal cortica... |
OMIM:130650 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Urethral stricture, Short stature, Increased connective tissue, Keratitis, Scarring alopecia of s... |
OMIM:226670 |
Prune Belly Syndrome |
|
Patent ductus arteriosus, Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Skin rash, Splenome... |
ORPHA:36412 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Maculopapular exanthema, Skin rash, Leukopeni... |
ORPHA:83313 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst |
OMIM:617478 |
Aredyld Syndrome |
|
Hepatomegaly, Short stature, Abnormal dental enamel morphology, Cachexia, Lipoatrophy, Splenomega... |
ORPHA:1133 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, E... |
OMIM:619991 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Small for gestational ag... |
OMIM:260400 |
Kury-Isidor Syndrome |
|
Growth delay, Recurrent otitis media, Hydronephrosis |
OMIM:619762 |
Alkaptonuria |
|
Osteoarthritis, Nephrolithiasis, Arthritis, Aminoaciduria, Prostatitis |
ORPHA:56 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Patent ductus arteriosus, Death in ch... |
OMIM:214100 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Umbilical hernia, Abnormality of the ureter, Obesity, Short stature |
ORPHA:1035 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Myocarditis, Leukocytosis, Oliguria, Weight loss, Pancreatitis... |
ORPHA:188 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ... |
OMIM:251100 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Horseshoe kidney, Camptodactyly, Intrauterine growth retardation, Hydro... |
OMIM:614846 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Nephrolithiasis, Abnormality of the kidney |
ORPHA:521445 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Small for gestational age, Hypospadias, Flexion contracture, Intrauterine growth retardation, Mic... |
OMIM:616897 |
3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Postnatal growth reta... |
OMIM:610198 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Uterine prolapse, Short stature, Decreased serum iron, Patent ductus arteriosus, Nephrolithiasis,... |
ORPHA:438213 |
Ritscher-Schinzel Syndrome 1 |
|
Intrauterine growth retardation, Hypospadias, Hydronephrosis |
OMIM:220210 |
Megabladder, Congenital |
|
Multiple glomerular cysts, Patent ductus arteriosus, Stage 5 chronic kidney disease, Fetal megacy... |
OMIM:618719 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Retroperitoneal fibrosis, Thyroiditis, Weight loss, Tubulointerstitial nephritis, Kerat... |
ORPHA:79078 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Decreased adenos... |
OMIM:251110 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Umbilical hernia, Hydronephrosis |
OMIM:619217 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Sp... |
ORPHA:79083 |
Mesomelia-Synostoses Syndrome |
|
Umbilical hernia, Short stature, Hydronephrosis |
ORPHA:2496 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Hyperuricemia, Anemia |
ORPHA:371 |
9Q21.13 Microdeletion Syndrome |
|
Postnatal growth retardation, Hydronephrosis |
ORPHA:531151 |
Shigellosis |
|
Hyponatremia, Acute colitis, Failure to thrive in infancy, Pneumonia, Hemolytic-uremic syndrome, ... |
ORPHA:810 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Flexion contracture, Gastrointestinal inflammation, Iron deficiency anemia, L... |
ORPHA:79408 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Micropenis, Slender build, Hydronephrosis, Short stature |
ORPHA:364028 |
22Q11.2 Duplication Syndrome |
|
Growth delay, Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis |
ORPHA:1727 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Shor... |
ORPHA:2322 |
Zaki Syndrome |
|
Renal agenesis, Short stature, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hydrone... |
OMIM:619648 |
Hypoplasminogenemia |
|
Cervicitis, Decreased level of plasminogen, Periodontitis, Nephrolithiasis |
ORPHA:722 |
Legius Syndrome |
|
Short stature, Acute monocytic leukemia, Nephrolithiasis, Multiple lipomas, Male urethral meatus ... |
ORPHA:137605 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:613550 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology, Abnormality of the ureter, Hypospadias, Short stature |
ORPHA:2522 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Maculopapular exanthema, Skin ... |
ORPHA:540 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
ORPHA:347 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased... |
OMIM:618061 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Death in infancy, Recurrent urinary tract infections, Hypoplasia of penis, Short stature, Abnorma... |
ORPHA:847 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Short stature |
ORPHA:1307 |
Rhyns Syndrome |
|
Renal insufficiency, Chronic kidney disease, Short stature, Nephronophthisis |
OMIM:602152 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Inguinal hernia, Short stature, Nephrolithiasis, Nephrocalcinosis, Umbilical hernia, Micropenis, ... |
OMIM:268310 |
Classic Homocystinuria |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormality of amino acid metabolism, Hernia |
ORPHA:394 |
Morgagni-Stewart-Morel Syndrome |
|
Acne, Osteoarthritis, Obesity, Hyperuricemia, Abnormal metabolism, Hypercholesterolemia |
ORPHA:77296 |
Schinzel-Giedion Syndrome |
|
Inguinal hernia, Myeloid leukemia, Hypospadias, Failure to thrive in infancy, Recurrent pneumonia... |
ORPHA:798 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Inguinal hernia, Severe short stature, Short stature, Congenital diaphragmatic... |
OMIM:601186 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Short stature, Abnormality of the kidney, Patent ductus art... |
ORPHA:391641 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Short stature, Recurrent skin infections, Growth delay, Decreased serum creatinine, Intrauterine ... |
OMIM:617744 |
Toluene Embryopathy |
|
Short stature, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Overfriendliness, Hypospadias, Short stature, Abnormal dental enamel morpho... |
ORPHA:96169 |
Sepsis In Premature Infants |
|
Hepatomegaly, Small for gestational age, Elevated circulating C-reactive protein concentration, T... |
ORPHA:90051 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Short stature, Pneumonia, Patent ductus arterios... |
ORPHA:353281 |
Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Hydronephrosis |
OMIM:607598 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Hepatic fibrosis... |
ORPHA:171 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Failure to thrive, Short stature, Hydronephrosis, Recurrent pneumonia |
OMIM:619179 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased body weight, Hepatic fibrosis, Hepa... |
ORPHA:264580 |
Silver-Russell Syndrome 1 |
|
Urethral valve, Hypospadias, Small for gestational age, Abnormality of the ureter, Congenital pos... |
OMIM:180860 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Ectopic kidney, Horseshoe kidney, Hypoalbuminemia, Camptodacty... |
OMIM:235510 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Short stature, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Short s... |
OMIM:251300 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Omphalocele, Short stature, Hydronephrosis |
ORPHA:2484 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit... |
ORPHA:904 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Pyelonephritis, Keloids, Nephritis, Renal dysplasia |
OMIM:314300 |
Vacterl/Vater Association |
|
Omphalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Cong... |
ORPHA:887 |
Zimmermann-Laband Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Long penis, Nephrolithiasis, Umbilical hernia |
OMIM:135500 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Flexion contracture |
OMIM:616222 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Failure to thrive, Hypolysinemia, Short stature, Increased circulating ferritin con... |
OMIM:222700 |
Carpenter Syndrome 1 |
|
Omphalocele, Hydroureter, Short stature, Patent ductus arteriosus, Obesity, Polysplenia, Camptoda... |
OMIM:201000 |
3C Syndrome |
|
Death in infancy, Hypoplasia of penis, Inguinal hernia, Hypospadias, Short stature, Postnatal gro... |
ORPHA:7 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive |
|
Abnormal glycosylation, Failure to thrive |
OMIM:615596 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the pancreas, Abnormality of the liver, Hyperuricemia, ... |
ORPHA:543 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Hypercholesterolemia, Increased C-pepti... |
ORPHA:528 |
Trisomy 1Q |
|
Omphalocele, Multicystic kidney dysplasia, Camptodactyly of finger, Congenital diaphragmatic hern... |
ORPHA:261344 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Renal agenesis, Hypospadias, Postnatal growth retardation, Reduced alpha/beta synthesis ratio, Hy... |
OMIM:301040 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Urinary mulberry cells, Lipiduria, Delayed puberty, Anemia |
OMIM:301500 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Short stature, Chronic otitis media, Obesi... |
ORPHA:261494 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Contracture of the distal interphala... |
ORPHA:2614 |
Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia, Chondro... |
OMIM:154020 |
Erdheim-Chester Disease |
|
Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Retroperitoneal fibrosis, Weight loss, Hy... |
ORPHA:35687 |
Snakebite Envenomation |
|
Hyponatremia, Acute kidney injury, Thrombocytopenia |
ORPHA:449285 |
Meningococcal Meningitis |
|
Skin rash, Renal insufficiency, Infectious encephalitis, Elevated circulating C-reactive protein ... |
ORPHA:33475 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosus, Abnormality of the ureter, Amin... |
ORPHA:30 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Short stature, Postnatal growth retardation, Camptodactyly, Intrauterine growth retardation, Micr... |
OMIM:612513 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the ur... |
ORPHA:2552 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy |
ORPHA:330001 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Hypospadias, Short stature, Microcytic anemia, Flexion contracture, Failure to thrive, HbH hemogl... |
ORPHA:98791 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Sho... |
ORPHA:96180 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Lymphopenia, Inguinal hernia, Short stature, Unilateral renal agenesis, Ectopic kidney, Renal hyp... |
OMIM:616541 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Ureteral stenosis, Asplenia, Patent ductus arteriosus, Renal hypoplasia, Ab... |
OMIM:270100 |
Dahlberg-Borer-Newcomer Syndrome |
|
Nephropathy, Renal insufficiency, Short stature, Hypocalcemia |
ORPHA:1563 |
Hyperoxaluria, Primary, Type Iii |
|
Hyperoxaluria, Calcium oxalate nephrolithiasis |
OMIM:613616 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Short stature, Scarring alopecia of scalp, Flexion contracture, Severe postnatal growth retardati... |
ORPHA:35173 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, I... |
ORPHA:1454 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Short stature, Thrombocytopenia, Patent ductus arteriosus, Hypoc... |
ORPHA:163979 |
Tarp Syndrome |
|
Horseshoe kidney, Hepatic failure, Neonatal death, Intrauterine growth retardation, Failure to th... |
OMIM:311900 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Ureteral agenesis, Abnormality of the urinary system, Congen... |
ORPHA:2437 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Intellectual Disability, Buenos-Aires Type |
|
Umbilical hernia, Short stature, Hydronephrosis |
ORPHA:3079 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Abnorma... |
ORPHA:99826 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... |
ORPHA:3027 |
Sickle Cell Disease |
|
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Splenomegaly, Leukocytosis, Splenic infarcti... |
OMIM:603903 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... |
ORPHA:79240 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Short stature, Rhizomelia, Renal ... |
ORPHA:818 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... |
OMIM:613090 |
Yellow Fever |
|
Renal insufficiency, Anuria, Neutrophilia, Elevated circulating creatine kinase concentration, El... |
ORPHA:99829 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amino... |
OMIM:280000 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Short stature, Atypical scarring of skin, Intrauter... |
ORPHA:1297 |
Baller-Gerold Syndrome |
|
Failure to thrive in infancy, Short stature, Abnormality of the ureter, Abnormal localization of ... |
ORPHA:1225 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Sple... |
OMIM:216360 |
Tyrosinemia Type 2 |
|
Abnormality of amino acid metabolism |
ORPHA:28378 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Intrauterine growth retardation, Patent ductus arteriosus, Limb joint contracture, Hydronephrosis |
OMIM:620327 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Renal insufficiency, Obesity |
OMIM:615986 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Cystic Fibrosis |
|
Elevated hepatic transaminase, Sinusitis, Nephrolithiasis, Bronchiectasis, Abnormality of the liv... |
ORPHA:586 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Lymphopenia, Renal insufficiency, Maculopapular exanthema, Skin ra... |
ORPHA:319213 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Severe ... |
ORPHA:2237 |
Scrub Typhus |
|
Anterior uveitis, Renal insufficiency, Skin rash, Splenomegaly, Myocarditis, Infectious encephalitis |
ORPHA:83317 |
Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Patent d... |
OMIM:616737 |
Variant Abeta2M Amyloidosis |
|
Hepatic amyloidosis, Chronic kidney disease, Renal amyloidosis |
ORPHA:314652 |
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 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenitis, Ne... |
ORPHA:449427 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Short stature, Asplenia,... |
OMIM:185070 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Weigh... |
OMIM:619377 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Growth delay, Patent ductus arteriosus, Short stature, Hydronephrosis |
ORPHA:457193 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Neurogenic bladder, Growth delay, Ureteropelvic junction obstruction, Failure to thrive, Hydronep... |
OMIM:616973 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Hypercalcemia, Postnatal growth retardation, Hypercalciuria, Intrauterine growth ret... |
OMIM:614732 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Failure to thrive in infancy, Eleva... |
OMIM:610377 |
Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Abnorm... |
ORPHA:552 |
Micro Syndrome |
|
Hypoplasia of penis, Short stature, Abnormal localization of kidney, Delayed puberty, Intrauterin... |
ORPHA:2510 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Recurrent skin infections, Urinary bladder inflammation, Hydronephrosis, Hema... |
ORPHA:79403 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... |
ORPHA:567546 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Stage 1 chronic kidney disease, Rhizomelia, Obesity |
OMIM:618821 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Short stature, Hyperuricemia |
ORPHA:364 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Short stature, Camptodactyly of finger, Abnormality of the ureter, Obesity, ... |
ORPHA:3409 |
Fructosuria, Essential |
|
Impairment of fructose metabolism |
OMIM:229800 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentratio... |
OMIM:611881 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Death in childhood, Amin... |
OMIM:220110 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary... |
ORPHA:89938 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
ORPHA:436271 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Inguinal hernia, Postnatal growth retardation, Flexion contracture, Umbilical hernia... |
ORPHA:254528 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Congenital diaphragmatic hernia, Blad... |
OMIM:614080 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Failure to thrive, St... |
OMIM:308940 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Abnormal vitamin B12 level, Elevated pro... |
ORPHA:3261 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Short stature, Hiatus hernia, Stage 5 chronic kidney di... |
OMIM:617729 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Osteogenesis Imperfecta |
|
Inguinal hernia, Short stature, Small for gestational age, Rhizomelia, Abnormal dental enamel mor... |
ORPHA:666 |
Branchioskeletogenital Syndrome |
|
Ureteral stenosis, Umbilical hernia, Micropenis, Bladder exstrophy, Penoscrotal hypospadias |
ORPHA:1299 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
1Q21.1 Microdeletion Syndrome |
|
Inguinal hernia, Short stature, Patent ductus arteriosus, Vesicoureteral reflux, Intrauterine gro... |
ORPHA:250989 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Abnormality of the gallbladder, Abnormality of... |
ORPHA:2869 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Camptodactyly of finger, Asplenia, Patent ductus arteriosus, Horseshoe kidne... |
ORPHA:99776 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Death in infancy, Copper accumulation in liver, Anemia, Growth delay, Aminoaciduria, Death in chi... |
OMIM:614946 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Short stature, Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholesteno... |
OMIM:308050 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Short stature, Camptodactyly of finger, Renal hypoplasia/aplasia, Hydro... |
ORPHA:568 |
Lamellar Ichthyosis |
|
Chronic otitis media, Renal insufficiency, Short stature, Erythroderma |
ORPHA:313 |
Systemic Sclerosis |
|
Renal insufficiency, Pericarditis, Proteinuria, Elevated circulating creatine kinase concentratio... |
ORPHA:90291 |
Trisomy 20P |
|
Inguinal hernia, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Abnormality of ... |
ORPHA:261318 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Short stature, Pneumo... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Short stature, Pneumo... |
ORPHA:353277 |
Transaldolase Deficiency |
|
Abnormality of the kidney, Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine c... |
ORPHA:101028 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Microscopic Polyangiitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Sinusitis, Increased inflammatory response, Pe... |
ORPHA:727 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... |
ORPHA:99867 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Renal insufficiency, Hypoplasia of penis, Femoral hernia, Inguinal hernia, Obesity, Growth delay,... |
ORPHA:96147 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Postnatal growth retardation, Paten... |
OMIM:192350 |
Eisenmenger Syndrome |
|
Hepatomegaly, Renal insufficiency, Elevated circulating C-reactive protein concentration, Patent ... |
ORPHA:97214 |
Fabry Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Hyperlipidemia, Hematuria, Nephr... |
ORPHA:324 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... |
ORPHA:36426 |
Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia |
ORPHA:79237 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature |
ORPHA:2715 |
17Q12 Microdeletion Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Short stature, ... |
ORPHA:261265 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Compl... |
OMIM:557000 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Elliptocytosis, Micro... |
ORPHA:86818 |
Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Small for gestational age, Short stature, Eczema, Patent duct... |
OMIM:610443 |
Encephalocraniocutaneous Lipomatosis |
|
Lipoma, Pelvic kidney, Multiple central nervous system lipomas, Hydronephrosis, Subcutaneous lipoma |
OMIM:613001 |
Liddle Syndrome 1 |
|
Renal insufficiency, Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Cat Eye Syndrome |
|
Renal agenesis, Short stature, Patent ductus arteriosus, Biliary atresia, Horseshoe kidney, Vesic... |
OMIM:115470 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuri... |
OMIM:239200 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Short stature, Renal hypoplasia/aplasia, Abno... |
ORPHA:819 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis... |
ORPHA:39041 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Li... |
OMIM:248370 |
Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Hypercalcemia, Insulinoma, Nephrolithiasis, Hypercalciuria, Weight loss... |
ORPHA:652 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Hypospadias, Obesity, Nephropathy, Nephroblastoma |
OMIM:194072 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
Raine Syndrome |
|
Death in infancy, Hydroureter, Short stature, Hypophosphatemia, Neonatal death, Arthrogryposis mu... |
OMIM:259775 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Eczema, Thrombocytopenia, Hepatiti... |
OMIM:304790 |
Mosaic Trisomy 8 |
|
Short stature, Camptodactyly of finger, Vesicoureteral reflux, Arthrogryposis multiplex congenita... |
ORPHA:96061 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, He... |
ORPHA:199299 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... |
ORPHA:537 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Recurrent pneumonia, Hypospadias, Hydronephrosis |
OMIM:616449 |
Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Hyperimidodi... |
OMIM:170100 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Inguinal hernia, Camptodactyly of finger, Growth delay, Intrauterin... |
ORPHA:261349 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Crossed fused renal ectopia, Short stature, Autoimmune thrombocytopenia, Postna... |
OMIM:147920 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Death in early adulthood, Decreased adipose tissue ... |
OMIM:608612 |
Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Growth delay, Short stature, Glandular hypospadias |
ORPHA:1358 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Nephropathy, Renal insufficiency, Short stature |
OMIM:247410 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Reduced subcutaneous adipose tissue, Renal insufficiency, M... |
OMIM:137940 |
Pelvis-Shoulder Dysplasia |
|
Short stature, Camptodactyly of finger, Mesomelic/rhizomelic limb shortening, Neonatal short-trun... |
ORPHA:2839 |
Listeriosis |
|
Pericarditis, Liver abscess, Miscarriage, Pneumonia, Osteomyelitis, Pustule, Myocarditis, Jaundic... |
ORPHA:533 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Short stature, Knee flexion contracture, Arthrogry... |
ORPHA:85201 |
Ventriculomegaly With Cystic Kidney Disease |
|
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... |
OMIM:219730 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Proportionate short stature, Dentinogenesis imperfecta, Obesity, Growth delay, Periodontitis, Mod... |
OMIM:619269 |
Joubert Syndrome 3 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Intrauterine growth retardation, Hypospadias, Anemia |
OMIM:620135 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Inguinal hernia, Short stature, Congenital diaphragmatic hernia, Patent ductus arter... |
OMIM:618454 |
Refsum Disease |
|
Splenomegaly, Renal insufficiency |
ORPHA:773 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Small for gestational age, Short stature, Vesicoureteral ... |
OMIM:300707 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter... |
ORPHA:90324 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Hydronephrosis, Growth delay, Short stature, Dysuria |
ORPHA:101000 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Short stature, Distal urethral duplication, Ectopic kidney, Patent ... |
OMIM:146510 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Abnormal isoelectric focusing of serum transferrin, Vesicovaginal fistula, Enamel hypoplasia, Int... |
OMIM:300896 |
Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Short stature, Sinusitis, Recurr... |
OMIM:251260 |
Al-Gazali Syndrome |
|
Failure to thrive, Wrist flexion contracture, Hydronephrosis, Recurrent pneumonia |
OMIM:609465 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr... |
OMIM:616307 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Short stature, Elevated circulating creatine kinase conce... |
OMIM:309000 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney |
ORPHA:93260 |
Fanconi Anemia, Complementation Group F |
|
Failure to thrive, Short stature, Pneumonia, Thrombocytopenia, Patent ductus arteriosus, Renal hy... |
OMIM:603467 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Short stature, Pneumonia, Autoimmune thro... |
ORPHA:1855 |
Chromosome 17Q12 Deletion Syndrome |
|
Elevated hepatic transaminase, Hypoplasia of the bladder, Recurrent urinary tract infections, Mul... |
OMIM:614527 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Myocarditis, Leukocytosis, Abnormal blood ion concentration, O... |
ORPHA:31824 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Abno... |
ORPHA:411629 |
Stromme Syndrome |
|
Accessory spleen, Stillbirth, Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Short stature, Patent ductus arteriosus, Hypocalcemia, Intrauter... |
OMIM:300712 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Omphalocele, Multicystic kidney dysplasia, Inguinal hernia, Abnormal denta... |
ORPHA:2092 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,... |
ORPHA:293173 |
Digeorge Syndrome |
|
Hypoplasia of the thymus, Hypocalcemia, Hepatic steatosis, Short stature, Acne, Femoral hernia, P... |
OMIM:188400 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Iron deficiency anemia, Hep... |
ORPHA:100078 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Large for gestational age, Thrombocytopenia, Aminoaciduria, Neutropenia, Umbilical her... |
OMIM:614520 |
Myopathy With Lactic Acidosis, Hereditary |
|
Sideroblastic anemia, Elevated circulating creatine kinase concentration, Leukopenia, Myoglobinur... |
OMIM:255125 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Stt3A-Cdg |
|
Abnormal glycosylation, Micropenis, Failure to thrive |
ORPHA:370921 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... |
OMIM:607323 |
Martin-Probst Syndrome |
|
Renal insufficiency, Pancytopenia, Proteinuria, Short stature, Chordee, Umbilical hernia, Micropenis |
OMIM:300519 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Abnormality of the upper urinary tract, Growth delay, Failure to thrive, Hydronephrosis |
ORPHA:2995 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
Okamoto Syndrome |
|
Omphalocele, Urinary incontinence, Splenomegaly, Unilateral renal hypoplasia, Severe postnatal gr... |
ORPHA:2729 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Failure to thrive, Hyperglutamatemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Ane... |
OMIM:620358 |
Zygomycosis |
|
Renal insufficiency, Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Periton... |
ORPHA:73263 |
Severe Acute Respiratory Syndrome |
|
Acute infectious pneumonia, Acute kidney injury |
ORPHA:140896 |
Juvenile Paget Disease |
|
Short stature, Hyperuricemia |
ORPHA:2801 |
Dubowitz Syndrome |
|
Hypospadias, Short stature, Abnormality of neutrophils, Eczema, Postnatal growth retardation, Thr... |
ORPHA:235 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia, Obesity |
OMIM:615989 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Growth delay, Micropenis, Hydronephrosis |
OMIM:617798 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hyperalaninemia, Failure to thrive, Stage 5 chronic kidney disease, Lacticaciduria |
OMIM:618250 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... |
OMIM:249100 |
Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Short stature, Patent ductus arteriosus, Vesicoureteral reflux, Micropenis |
OMIM:617159 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... |
OMIM:256700 |
8P Inverted Duplication/Deletion Syndrome |
|
Contractures of the large joints, Abnormality of the urinary system, Aplasia/Hypoplasia of the ga... |
ORPHA:96092 |
Fryns Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Vesicour... |
ORPHA:2059 |
Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... |
ORPHA:2842 |
Alagille Syndrome |
|
Hepatomegaly, Renal hypoplasia/aplasia, Abnormality of the ureter, Cholestasis, Nephrotic syndrom... |
ORPHA:52 |
Joubert Syndrome 9 |
|
Hepatic fibrosis, Stage 5 chronic kidney disease |
OMIM:612285 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Death in infancy, Posterolateral diaphragmatic hernia, Inguinal hernia, Morgagn... |
OMIM:613177 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Distal Deletion 10Q |
|
Failure to thrive, Short stature, Postnatal growth retardation, Patent ductus arteriosus, Functio... |
ORPHA:96148 |
Cholera |
|
Hyponatremia, Abnormality of renal excretion, Miscarriage, Abnormal blood ion concentration, Hypo... |
ORPHA:173 |
Familial Dysautonomia |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormal peritoneum morphology, Abnormality of... |
ORPHA:1764 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Umbilical hernia, Patent ductus arteriosus, Ureteral triplication, Hydronephrosis |
OMIM:104350 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... |
OMIM:146255 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Horseshoe kidney, Intrauterine growth retardation, Failure to thriv... |
ORPHA:2886 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Short stature, Thrombocytopenia, P... |
OMIM:617053 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis, ... |
OMIM:204690 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Short stature, Congenital diaphragmatic hernia, Ectopic kidney, Morgagni diaph... |
OMIM:613309 |
Distal Deletion 12Q |
|
Late onset atopic dermatitis, Failure to thrive in infancy, Short stature, Ectopic kidney, Patent... |
ORPHA:96149 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Splenomegaly, L... |
ORPHA:33226 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Impairment of galactose metabolism, Cholestasis, Hypergalactosemia, Decreased liver... |
ORPHA:570422 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Flexion contracture of finger, Hypospadias, Small for gestational age, Unilate... |
ORPHA:464311 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Inguinal hernia, Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Postnata... |
ORPHA:487796 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Patent ductus arteriosus, Flex... |
ORPHA:505248 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Short stature, Hematuria, Nephrotic syndrome |
OMIM:161200 |
Joubert Syndrome 2 |
|
Renal insufficiency, Failure to thrive, Renal cyst, Nephronophthisis |
OMIM:608091 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukop... |
ORPHA:1304 |
Sotos Syndrome |
|
Ureteral duplication, Flexion contracture, Chronic otitis media, Vesicoureteral reflux, Hypospadi... |
ORPHA:821 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Elevated circulating alpha-fetoprotein concentration, Patent ductus arteriosus, Hype... |
ORPHA:280633 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Umbilical hernia, Abnormality of the ureter, Short stature, Renal hypoplasia/aplasia |
ORPHA:1770 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Osteoarth... |
ORPHA:77259 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Gabriele-De Vries Syndrome |
|
Small for gestational age, Distal arthrogryposis, Intrauterine growth retardation, Ureteropelvic ... |
ORPHA:506358 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elevated hepatic transaminase, Renal insufficiency, Hypospadias, Short stature, Rhizomelic leg sh... |
ORPHA:397715 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Small for gestational age, Short stat... |
OMIM:227650 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Patent... |
ORPHA:2473 |
Trisomy 18 |
|
Omphalocele, Short stature, Camptodactyly of finger, Cachexia, Abnormality of the upper urinary t... |
ORPHA:3380 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Growth delay, Hydronephrosis |
ORPHA:247262 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Hyperuricemia |
OMIM:308950 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Rena... |
ORPHA:556030 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Pancytopenia, Small for gestational age, Renal agenesis, Short stat... |
OMIM:600901 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Rena... |
ORPHA:556037 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Short stature, Patent duct... |
OMIM:619522 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Micropenis |
OMIM:615994 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Obesity, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis |
OMIM:618653 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hydronephrosis, Patent ductus arteriosus, Short stature, Renal dysplasia |
OMIM:300968 |
Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Interphalangeal joint contracture of finger, Ankle flexion contracture, Camptodactyl... |
OMIM:305620 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Vesicoureteral reflux, Intrauterine growth retardation, Failure to thrive, Abnormal bladder morph... |
ORPHA:453499 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Renal agenesis, Hypospadias, Pure red cell apl... |
ORPHA:124 |
7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Hypospadias, Short stature, Unilateral renal agenesis, Congenital diaphragmatic ... |
ORPHA:96121 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Failure to thrive, Hepatomegaly, Short stature, Cholangitis, Rhizomelia, Pa... |
OMIM:266920 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Miscarriage, Abnormal hemoglobin, Anemia of inadequate productio... |
ORPHA:2133 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Inguinal hernia, Portal hypertension, Pa... |
OMIM:267010 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Failure to thrive, Multiple joint contractures, Hypospadias, Small for gestational age, Unilatera... |
ORPHA:464306 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis |
OMIM:619362 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Inguinal hernia, Short stature,... |
OMIM:613610 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Hypospadias, Recurrent pneumonia, Male urethral meatus stenosis, Cholelithiasis,... |
ORPHA:464738 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency |
ORPHA:2165 |
Calciphylaxis |
|
Hyperphosphatemia, Stage 5 chronic kidney disease, Cellulitis |
ORPHA:280062 |
Cardiofaciocutaneous Syndrome 1 |
|
Short stature, Splenomegaly, Atopic dermatitis, Failure to thrive, Hydronephrosis |
OMIM:115150 |
Eec Syndrome |
|
Hypospadias, Short stature, Abnormal dental enamel morphology, Renal hypoplasia/aplasia, Keratiti... |
ORPHA:1896 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Superficial dermal perivascular inflamma... |
ORPHA:83617 |
Thakker-Donnai Syndrome |
|
Intrauterine growth retardation, Hydronephrosis, Congenital diaphragmatic hernia |
ORPHA:1780 |
Arteriosclerosis, Severe Juvenile |
|
Chronic kidney disease, Short stature, Anemia, Delayed puberty |
OMIM:208060 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Neutrophilia, Liver abscess, Abnormality of the kidney, Elevated c... |
ORPHA:54251 |
Fanconi Anemia, Complementation Group P |
|
Pancytopenia, Short stature, Horseshoe kidney, Growth delay, Pelvic kidney, Anemia |
OMIM:613951 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Giant Cell Arteritis |
|
Renal insufficiency, Pericarditis, Weight loss, Hematuria, Arthritis, Hepatic failure |
ORPHA:397 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular... |
OMIM:118450 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Renal insufficiency, Severe short stature, Pro... |
OMIM:133540 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Patent ductus arteriosus, Annular pancreas, Hydronephrosis |
ORPHA:210122 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Pancytopenia, Small for gestational age, Renal agenesis, Short stat... |
OMIM:227645 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Oliguria, Weight loss, Lymphocytosis, Hypochromic anemia,... |
ORPHA:514 |
Monosomy 9P |
|
Ureteropelvic junction obstruction, Hernia, Hypospadias, Congenital diaphragmatic hernia |
ORPHA:261112 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Hydroureter, Hypo... |
ORPHA:84 |
Mercury Poisoning |
|
Interstitial pneumonitis, Hypokalemia, Acute kidney injury |
ORPHA:330021 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Acute Interstitial Pneumonia |
|
Bronchiectasis, Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circu... |
ORPHA:79126 |
Diffuse Cutaneous Systemic Sclerosis |
|
Arthritis, Renal insufficiency, Flexion contracture, Oliguria |
ORPHA:220393 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short stature, Stage 5 chronic kidney disease, Hepatic cysts |
OMIM:613819 |
Au-Kline Syndrome |
|
Chronic kidney disease, Dilatation of the renal pelvis, Vesicoureteral reflux, Failure to thrive,... |
OMIM:616580 |
Orthostatic Hypotension 2 |
|
Anemia, Decreased glomerular filtration rate |
OMIM:618182 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
Fanconi Anemia, Complementation Group R |
|
Growth delay, Pelvic kidney, Anemia |
OMIM:617244 |
Joubert Syndrome With Oculorenal Defect |
|
Nephropathy, Renal insufficiency |
ORPHA:2318 |
Fryns Syndrome |
|
Omphalocele, Ureteral duplication, Ectopic pancreatic tissue, Renal agenesis, Hypospadias, Large ... |
OMIM:229850 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:614748 |
Joubert Syndrome With Renal Defect |
|
Nephropathy, Renal insufficiency |
ORPHA:220497 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Severe short stature, Inguinal hernia, Recurrent pneumonia, P... |
ORPHA:90349 |
Overlap Myositis |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormality of... |
ORPHA:206572 |
Jacobsen Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Inguinal hernia, Short stature, Eczema, Growth de... |
ORPHA:2308 |
Cousin Syndrome |
|
Rhizomelia, Disproportionate short stature, Camptodactyly, Joint contracture of the hand, Wrist f... |
OMIM:260660 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, ... |
OMIM:619603 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hepatomegaly, Renal insufficiency, Short stature, Reduced pancreatic beta cells |
OMIM:226980 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Portal hypertension, Megacystis, Hepatic failure, Hydronephrosis |
OMIM:619431 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Short stature, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, ... |
OMIM:181270 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Generalized lipodystrophy, P... |
ORPHA:79086 |
Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias... |
ORPHA:373 |
Alg9-Cdg |
|
Omphalocele, Hypoplasia of the bladder, Hepatomegaly, Rhizomelia, Ureteral hypoplasia, Hepatic cy... |
ORPHA:79328 |
Campomelic Dysplasia |
|
Short stature, Hydronephrosis |
ORPHA:140 |
Opitz Gbbb Syndrome |
|
Omphalocele, Inguinal hernia, Hypospadias, Short stature, Congenital diaphragmatic hernia, Patent... |
ORPHA:2745 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Anemia, Decreased urinary potassium |
OMIM:611489 |
Orotic Aciduria |
|
Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anemia, Oroticaciduria,... |
OMIM:258900 |
3Mc Syndrome 1 |
|
Omphalocele, Postnatal growth retardation, Patent ductus arteriosus, Growth delay, Hydronephrosis |
OMIM:257920 |
Enamel-Renal Syndrome |
|
Renal insufficiency, Abnormal dental enamel morphology, Hypophosphaturia, Impaired renal concentr... |
ORPHA:1031 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal insufficiency, Renal agenesis, Short stature, Ectopic kidney, Horseshoe kidney, Vesicourete... |
ORPHA:140952 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Leukocytosis, Weight loss |
ORPHA:764 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Inguinal hernia, Hypospadias, Short stature, Congenital diaphragmatic hernia, Camptodactyly of fi... |
ORPHA:2311 |
Humeroradial Synostosis |
|
Renal insufficiency |
OMIM:236400 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Ab... |
ORPHA:2750 |
Argininemia |
|
Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Hyperammonemia, Cholestasis, ... |
OMIM:207800 |
Degcags Syndrome |
|
Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Reduced blood folate concentratio... |
OMIM:619488 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Anuria, Acute colitis, Pneumonia, Pancreatitis, Leukocytosis, Myo... |
ORPHA:544482 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Camptodactyly of finger, Horseshoe kidney, Duplication... |
DECIPHER:81 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... |
OMIM:613159 |
Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, ... |
ORPHA:423 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal... |
ORPHA:79124 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Cardiofaciocutaneous Syndrome |
|
Failure to thrive in infancy, Hydronephrosis, Short stature |
ORPHA:1340 |
Visceral Myopathy 1 |
|
Megacystis, Hydronephrosis, Urinary retention, Vesicoureteral reflux, Pancreatitis |
OMIM:155310 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Atrophic gastritis, Chilblains, Pneumonia, Skin ras... |
OMIM:615846 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Increased urine succinate level, ... |
OMIM:606812 |
White-Kernohan Syndrome |
|
Hydroureter, Obesity, Horseshoe kidney, Recurrent otitis media, Hydronephrosis |
OMIM:619426 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Patent ductus arteriosus, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Rena... |
OMIM:619351 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Hepatic steatosis, Hepatomegaly, Membranoproliferative glomerulonephritis, Ele... |
OMIM:619525 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... |
ORPHA:284 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hema... |
ORPHA:1018 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Renal insufficiency, Hip contracture, Proteinu... |
OMIM:216400 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia... |
OMIM:194080 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy... |
ORPHA:275761 |
Monosomy 22Q13.3 |
|
Recurrent skin infections, Obesity, Hydronephrosis, Vesicoureteral reflux, Umbilical hernia, Recu... |
ORPHA:48652 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Overfriendliness, Recurrent urinary tract infections, Hypospadias, Small for gestational age, Ecz... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Overfriendliness, Recurrent urinary tract infections, Hypospadias, Small for gestational age, Ecz... |
ORPHA:363958 |
Autosomal Dominant Cutis Laxa |
|
Inguinal hernia, Unilateral renal agenesis, Postnatal growth retardation, Bronchiectasis, Pyelone... |
ORPHA:90348 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Scrotal hypospadias, Micropenis, Hypospadias |
OMIM:250790 |
Cranioectodermal Dysplasia 4 |
|
Recurrent pneumonia, Short stature, Stage 5 chronic kidney disease |
OMIM:614378 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
3-Methylglutaconic Aciduria, Type Viia |
|
3-Methylglutaconic aciduria, Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Trisomy 8P |
|
Multiple joint contractures, Fetal pyelectasis, Annular pancreas, Nephrocalcinosis, Aplasia/Hypop... |
ORPHA:264450 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Pustule, Orchitis, Hem... |
ORPHA:761 |
Coccidioidomycosis |
|
Renal insufficiency, Pericarditis, Osteomyelitis, Abnormality of the kidney, Eosinophilia, Pneumo... |
ORPHA:228123 |
Exstrophy-Epispadias Complex |
|
Omphalocele, Renal insufficiency, Bladder fistula, Inguinal hernia, Urinary incontinence, Abnorma... |
ORPHA:322 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
Relapsing Polychondritis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna... |
ORPHA:728 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Small for gestational age, Short stat... |
OMIM:227646 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Short stature, Congenital hypoplastic anemia, Renal hypoplasia, Reticulocytope... |
OMIM:105650 |
Bladder Exstrophy |
|
Omphalocele, Recurrent urinary tract infections, Hypoplasia of penis, Inguinal hernia, Epispadias... |
ORPHA:93930 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin... |
ORPHA:231226 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Abnormality of the ureter, Biliary tract abnormality, ... |
OMIM:175200 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... |
ORPHA:781 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Elevated circul... |
OMIM:311250 |
Tempi Syndrome |
|
Polycythemia, Increased hematocrit, Abnormality of the kidney |
ORPHA:284227 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglob... |
OMIM:619127 |
Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Inguinal hernia, Camptodacty... |
ORPHA:1507 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Behçet Disease |
|
Glomerulopathy, Renal insufficiency, Myositis, Acne, Increased inflammatory response, Pericarditi... |
ORPHA:117 |
Hermansky-Pudlak Syndrome 1 |
|
Renal insufficiency, Colitis, Inflammation of the large intestine |
OMIM:203300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Elevated circulating creatine kinase co... |
OMIM:615287 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Leukocytosis, Flexion contracture, Renal hypoplasia, Abdominal obesity, Azotemia, ... |
OMIM:619321 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Dextrocardia |
|
Abnormality of the spleen, Abnormal renal morphology, Abnormality of the ureter, Abnormality of a... |
ORPHA:1666 |
Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Renal Nutcracker Syndrome |
|
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria, Anemia |
ORPHA:71273 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Death in childhood, Micropenis, He... |
OMIM:243800 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... |
OMIM:604292 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Renal Fanconi syndrome, Short stature, Stage 5 chronic kidney disease, Glycosuria |
OMIM:268315 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, Hepatitis, Uveitis, Hype... |
ORPHA:509 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Holoprosencephaly 3 |
|
Hydronephrosis |
OMIM:142945 |
Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Neutropenia, Abnormal dental enamel morphology, Weight loss |
ORPHA:79430 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscu... |
ORPHA:231214 |
Tetrasomy 9P |
|
Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Myositis, Pericarditis, ... |
ORPHA:3310 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Williams-Beuren Syndrome |
|
Flexion contracture, Nephrocalcinosis, Vesicoureteral reflux, Micropenis, Pelvic kidney, Short st... |
OMIM:194050 |
Apert Syndrome |
|
Chronic otitis media, Rhizomelic arm shortening, Acne, Hydronephrosis |
OMIM:101200 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the... |
ORPHA:3339 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... |
ORPHA:567983 |
Chime Syndrome |
|
Hydronephrosis, Abnormality of the kidney, Acute leukemia |
ORPHA:3474 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, T... |
OMIM:620005 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Short stature, Eczema, Hyperechogenic panc... |
OMIM:617052 |
Wiedemann-Rautenstrauch Syndrome |
|
Wide penis, Vesicoureteral reflux, Dilatation of renal calices, Hepatic steatosis, Loss of facial... |
ORPHA:3455 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Short stature, Stage 5 chronic kidney disease, Cirrhosis, Nephronophthisis |
OMIM:614099 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Omphalocele, Inguinal hernia, Hydroureter, Severe short stature, Abnormality of the... |
ORPHA:2273 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Inguinal hernia, Hydronephrosis |
OMIM:271520 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Duplicated collecting system, Inguinal hernia, Hydroureter, Renal agenesis, Hydronephrosis, Bladd... |
OMIM:129900 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy |
ORPHA:363618 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Small for gestational age, Short stature, Dilatation of the renal pe... |
ORPHA:2044 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Short stature, Camptodactyly of fing... |
ORPHA:1606 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Postnatal growth retardation, Long penis, Hype... |
ORPHA:508 |
Ellis Van Creveld Syndrome |
|
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Abnorm... |
ORPHA:289 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Recurrent skin infections, Scarring, Hiatus hernia, Nephrotic syndrome, Atrophic scars, Distal ar... |
OMIM:601776 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Omphalocele, Hydroureter, Hypospadias, Asplenia, Patent ductus arteriosus, Dilatation of the rena... |
OMIM:265380 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Dea... |
OMIM:609049 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Umbilical hernia, Neonatal hyperb... |
ORPHA:90674 |
Oeis Complex |
|
Duplicated collecting system, Omphalocele, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal... |
OMIM:258040 |
Lipodystrophy, Familial Partial, Type 6 |
|
Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abdominal obes... |
OMIM:615980 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Small for gestational age, Short stature, Umbilical hernia, Webbed ... |
ORPHA:97360 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Death in infancy, Proteinuria, Short stature, Elevated circulating C-... |
ORPHA:355 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Short stature, Elevated amniotic fluid alpha-fetoprotein, Prolonged neonatal jaundice, Severe fai... |
ORPHA:423479 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemia, ... |
ORPHA:90062 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Chronic kidney disease |
ORPHA:25 |
Serotonin Syndrome |
|
Acute kidney injury, Hepatic failure |
ORPHA:43116 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Hemosiderinuria, Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemi... |
OMIM:105600 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... |
ORPHA:466650 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the ureter, Abnormal dental enamel morphology |
ORPHA:3253 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Unilateral renal agenesis, Conjugated hyperbilirubinemia, Postnatal gr... |
OMIM:620305 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Hypospadias, Small for gestational age, Short stature, Postnatal growth retarda... |
OMIM:180849 |
Osteogenesis Imperfecta, Type Vii |
|
Death in infancy, Rhizomelia, Short stature, Hydronephrosis, Dentinogenesis imperfecta |
OMIM:610682 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Vesicoureteral reflux, Growth delay, Hydronephrosis |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Vesicoureteral reflux, Growth delay, Hydronephrosis |
ORPHA:352665 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Hyperuricemia |
OMIM:240000 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Short stature, Patent ductus arteriosus, Hypercalciuria, Nephrocalcinosis, Elliptocytosis, Renal ... |
OMIM:300990 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Griscelli Syndrome |
|
Hepatomegaly, Short stature, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Leuko... |
ORPHA:381 |
Charge Syndrome |
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Short stature, Postnatal growth retardation, Patent ductus arteriosus, Horseshoe kidney, Delayed ... |
ORPHA:138 |
Gaucher Disease Type 3 |
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Hepatomegaly, Pancytopenia, Proteinuria, Splenomegaly, Hematuria, Anemia, Growth delay, Delayed p... |
ORPHA:77261 |
Knobloch Syndrome 1 |
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Duplicated collecting system, Patent ductus arteriosus, Bifid ureter, Hydronephrosis, Renal dupli... |
OMIM:267750 |
Primary Intestinal Lymphangiectasia |
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Peritoneal effusion, Weight loss, Growth delay, Reduced proportion of CD4+ effector memory T cell... |
ORPHA:90362 |
Dehydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Split Cord Malformation |
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Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... |
ORPHA:573278 |
Floating-Harbor Syndrome |
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Inguinal hernia, Hypospadias, Short stature, Glandular hypospadias, Atopic dermatitis, Nephrocalc... |
OMIM:136140 |
Hereditary Methemoglobinemia |
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Methemoglobinemia, Small for gestational age |
ORPHA:621 |
Mesomelia-Synostoses Syndrome |
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Mesomelic short stature, Hydronephrosis |
OMIM:600383 |
Hydrolethalus Syndrome 1 |
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Accessory spleen, Omphalocele, Hypospadias, Stillbirth, Intrauterine growth retardation, Hydronep... |
OMIM:236680 |
Agel Amyloidosis |
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Keratoconjunctivitis sicca, Abnormal spleen morphology, Proteinuria, Stage 5 chronic kidney disease |
ORPHA:85448 |
Polycythemia Vera |
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Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Meckel Syndrome, Type 1 |
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Accessory spleen, Hypoplasia of the bladder, Omphalocele, Renal agenesis, Camptodactyly of finger... |
OMIM:249000 |
Wiskott-Aldrich Syndrome |
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Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
Hb Bart'S Hydrops Fetalis |
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Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
Subaortic Stenosis-Short Stature Syndrome |
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Inguinal hernia, Acne, Short stature, Biliary tract abnormality, Obesity, Abnormal circulating li... |
ORPHA:3191 |
Coffin-Siris Syndrome 1 |
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Inguinal hernia, Hydroureter, Hypospadias, Short stature, Congenital diaphragmatic hernia, Ectopi... |
OMIM:135900 |
Arboleda-Tham Syndrome |
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Recurrent urinary tract infections, Patent ductus arteriosus, Growth delay, Recurrent otitis medi... |
OMIM:616268 |
Peters Plus Syndrome |
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Ureteral duplication, Multicystic kidney dysplasia, Inguinal hernia, Hypospadias, Short stature, ... |
ORPHA:709 |
Igg4-Related Submandibular Gland Disease |
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Renal insufficiency, Eosinophilia, Abnormality of the kidney, Cholangitis, Retroperitoneal fibros... |
ORPHA:449432 |
Scorpion Envenomation |
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Acute pancreatitis, Increased circulating NT-proBNP concentration, Ketonuria, Elevated circulatin... |
ORPHA:466677 |
Doors Syndrome |
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Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... |
ORPHA:79500 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Hydroureter, Severe short stature, Abnormality of the kidney, Abnormality of the upper urinary tr... |
ORPHA:2636 |
Diamond-Blackfan Anemia 6 |
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Macrocytic anemia, Patent ductus arteriosus, Persistence of hemoglobin F, Growth delay, Increased... |
OMIM:612561 |
Adult-Onset Still Disease |
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Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Elevated circ... |
ORPHA:829 |
Osteopetrosis, Autosomal Recessive 3 |
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Extramedullary hematopoiesis, Short stature, Hepatosplenomegaly, Distal renal tubular acidosis, A... |
OMIM:259730 |
Peters-Plus Syndrome |
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Ureteral duplication, Hypospadias, Bilobate gallbladder, Rhizomelia, Postnatal growth retardation... |
OMIM:261540 |
Lipodystrophy, Familial Partial, Type 7 |
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Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:606721 |
Campomelic Dysplasia |
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Hypospadias, Contracture of the distal interphalangeal joint of the fingers, Neonatal short-limb ... |
OMIM:114290 |
Lacrimoauriculodentodigital Syndrome |
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Abnormal dental enamel morphology, Patent ductus arteriosus, Renal hypoplasia, Keratoconjunctivit... |
ORPHA:2363 |
Blau Syndrome |
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Clear cell renal cell carcinoma, Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Spl... |
ORPHA:90340 |
Townes-Brocks Syndrome |
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Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... |
ORPHA:857 |
Joubert Syndrome 5 |
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Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... |
OMIM:610188 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
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Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Flexion contracture, W... |
ORPHA:1979 |
Charge Syndrome |
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Omphalocele, Renal agenesis, Postnatal growth retardation, Patent ductus arteriosus, Renal hypopl... |
OMIM:214800 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Eczema, Recurrent pneumonia, Hypocalcemia, Umbilical hernia, Hydronephrosis |
OMIM:620330 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
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Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Chylomicron Retention Disease |
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Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Growth delay, Abnormality of... |
ORPHA:71 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Orofaciodigital Syndrome Type 3 |
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Stage 5 chronic kidney disease |
ORPHA:2752 |
Cornelia De Lange Syndrome |
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Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Short statur... |
ORPHA:199 |
Congenital Disorder Of Glycosylation, Type Iiq |
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Elevated hepatic transaminase, Abnormal glycosylation, Decreased circulating ceruloplasmin concen... |
OMIM:617395 |
Robinow Syndrome, Autosomal Dominant 1 |
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Inguinal hernia, Rhizomelia, Short stature, Umbilical hernia, Micropenis, Hydronephrosis, Renal d... |
OMIM:180700 |
Cardiac Valvular Dysplasia 1 |
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Urethral diverticulum, Inguinal hernia, Hydroureter, Hydronephrosis |
OMIM:212093 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Omphalocele, Hypoplasia of penis, Urethrovaginal fistula, Congenital hepatic fibrosis, Renal hypo... |
ORPHA:93271 |
Erythrocytosis, Familial, 1 |
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Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Focal Dermal Hypoplasia |
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Omphalocele, Ureteral duplication, Inguinal hernia, Short stature, Congenital diaphragmatic herni... |
OMIM:305600 |
Leukocyte Adhesion Deficiency |
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Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Short sta... |
ORPHA:2968 |
Von Hippel-Lindau Syndrome |
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Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Hepatic h... |
OMIM:193300 |
Bardet-Biedl Syndrome 20 |
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Hypercholesterolemia |
OMIM:619471 |
Acrorenal-Mandibular Syndrome |
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Renal agenesis, Congenital diaphragmatic hernia, Abnormality of the ureter, Elbow flexion contrac... |
OMIM:200980 |
African Trypanosomiasis |
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Hepatomegaly, Renal insufficiency, Pericarditis, Miscarriage, Urinary incontinence, Keratitis, Sp... |
ORPHA:3385 |
Dyskeratosis Congenita, X-Linked |
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Acute myeloid leukemia, Pancytopenia, Hypospadias, Short stature, Phimosis, Thrombocytopenia, Ure... |
OMIM:305000 |
Otopalatodigital Syndrome, Type Ii |
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Omphalocele, Hypospadias, Short stature, Elbow contracture, Postnatal growth retardation, Stillbi... |
OMIM:304120 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Hepatomegaly, Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Splenomegaly, Patent... |
OMIM:312870 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Sinusitis, Short stature, Renal hypoplasia/aplasia, Abnormal renal morphology, Hydronephrosis |
ORPHA:363700 |
Immunodeficiency 47 |
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Hypercholesterolemia, Decreased circulating copper concentration |
OMIM:300972 |
Townes-Brocks Syndrome 1 |
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Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Small for gestati... |
OMIM:107480 |
Craniofacial Microsomia 1 |
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Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Patent ductus arteriosus, Vesicoure... |
OMIM:164210 |
Erythrocytosis, Familial, 2 |
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Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Familial Osteodysplasia, Anderson Type |
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Hyperuricemia |
ORPHA:2769 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
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Hiatus hernia, Overweight, Patent ductus arteriosus, Recurrent pneumonia, Persistence of hemoglob... |
OMIM:619769 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Fasciitis, Osteomyelitis, Chronic kidney disease, Corneal scarring, Growth delay, Atypical scarri... |
ORPHA:642 |
Livedoid Vasculopathy |
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Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,... |
ORPHA:542643 |
Secondary Short Bowel Syndrome |
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Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Weight loss, Growth delay, ... |
ORPHA:95427 |
Erythrocytosis, Familial, 8 |
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Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Erythrocytosis, Familial, 3 |
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Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Mowat-Wilson Syndrome |
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Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux, Webbed penis, Micrope... |
ORPHA:2152 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Renal dysplasia, Short stature, Cyst of the ductus choledochus, Patent ductus arteriosus, Delayed... |
ORPHA:480880 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Tbck-Related Intellectual Disability Syndrome |
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Neurogenic bladder, Abnormal circulating lipid concentration, Eczema |
ORPHA:488632 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Costello Syndrome |
|
Renal insufficiency, Failure to thrive, Short stature, Achilles tendon contracture |
OMIM:218040 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
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Persistence of hemoglobin F, Short stature |
OMIM:617101 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Short stature... |
ORPHA:261537 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... |
OMIM:618849 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Knee flexion contracture, Micropenis, Hydronephrosis |
OMIM:606170 |
Alpha-Thalassemia Myelodysplasia Syndrome |
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Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Alström Syndrome |
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Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Otitis media, Micr... |
ORPHA:64 |
Viss Syndrome |
|
Chronic gastritis, Inguinal hernia, Short stature, Eczema, Patent ductus arteriosus, Hypereosinop... |
OMIM:619472 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Short stature... |
ORPHA:261552 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Growth delay, Methemoglobinemia, Polycythemia |
OMIM:250800 |
Primary Biliary Cholangitis |
|
Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Biliary cirrhosis,... |
ORPHA:186 |
Congenital Tracheal Stenosis |
|
Patent ductus arteriosus, Abnormality of the ureter, Abnormality of the kidney |
ORPHA:141127 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Autoi... |
ORPHA:77293 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |