Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Hyperprolinemia, Type Ii |
|
Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria |
OMIM:239510 |
Hyperprolinemia Type 1 |
|
Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria |
ORPHA:419 |
Iminoglycinuria |
|
Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria |
ORPHA:42062 |
Threoninemia |
|
Hyperthreoninuria, Hyperthreoninemia |
OMIM:273770 |
Dibasic Amino Aciduria I |
|
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria |
OMIM:222690 |
Saccharopinuria |
|
Citrullinuria, Elevated circulating sacchoropine concentration, Histidinuria, Saccharopinuria, Hy... |
OMIM:268700 |
Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Hyperlysinuria |
OMIM:247950 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:242600 |
Spastic Paraplegia 41, Autosomal Dominant |
|
Urinary urgency, Lower limb muscle weakness |
OMIM:613364 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Enuresis, Nocturnal, 1 |
|
Enuresis nocturna |
OMIM:600631 |
Enuresis, Nocturnal, 2 |
|
Enuresis nocturna |
OMIM:600808 |
Hypersulfaturia |
|
Increased urinary sulfate, Nephrolithiasis |
OMIM:620372 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
Camptodactyly 1 |
|
Increased urinary taurine |
OMIM:114200 |
Hyperglycinuria |
|
Hyperglycinuria, Calcium oxalate nephrolithiasis |
OMIM:138500 |
Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Hydroxylysinuria |
|
Hyperlysinuria |
OMIM:236900 |
Camptodactyly-Taurinuria Syndrome |
|
Increased urinary taurine, Aminoaciduria |
ORPHA:1325 |
Hyper-Beta-Alaninemia |
|
Increased urinary taurine, Hyperbeta-alaninemia |
OMIM:237400 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Indolylacroyl Glycinuria With Mental Retardation |
|
Hyperglycinuria |
OMIM:243050 |
Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
Phosphohydroxylysinuria |
|
Phosphohydroxylysinuria |
OMIM:615011 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication |
ORPHA:147 |
X-Linked Spastic Paraplegia Type 16 |
|
Functional abnormality of the bladder |
ORPHA:100997 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Urinary bladder sphincter dysfunction |
ORPHA:284282 |
Diaminopentanuria |
|
Hyperlysinuria, Cystinuria |
OMIM:222350 |
Spastic Paraplegia 27, Autosomal Recessive |
|
Spastic/hyperactive bladder |
OMIM:609041 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Aminoaciduria, Increased ... |
OMIM:603358 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria |
ORPHA:2278 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... |
OMIM:308990 |
5-Oxoprolinase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis |
OMIM:260005 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Homocarnosinosis |
|
Carnosinuria |
OMIM:236130 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Cystathioninuria |
|
Cystathioninuria, Nephrolithiasis |
ORPHA:212 |
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria |
OMIM:204750 |
Hydroxykynureninuria |
|
Aminoaciduria |
OMIM:236800 |
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity |
|
Homocystinuria, Hyperhomocystinemia |
OMIM:236250 |
Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chloride test |
OMIM:229100 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Hyperprolinemia, Type I |
|
Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria |
OMIM:239500 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Nephrolithiasis |
OMIM:222900 |
Autosomal Dominant Spastic Paraplegia Type 4 |
|
Urinary urgency, Distal amyotrophy, Leg muscle stiffness, Urinary bladder sphincter dysfunction, ... |
ORPHA:100985 |
Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperlysinemia, Hyperlysinuria, Hyperammonemia |
OMIM:238750 |
Valinemia |
|
Hypervalinemia, Valinuria |
OMIM:277100 |
Galactosemia Iii |
|
Failure to thrive, Aminoaciduria, Galactosuria, Hypergalactosemia |
OMIM:230350 |
Stimmler Syndrome |
|
Aminoaciduria |
ORPHA:3199 |
Argininemia |
|
Diaminoaciduria, Hyperammonemia |
ORPHA:90 |
Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperlysinuria |
OMIM:238700 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... |
OMIM:603860 |
3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria |
OMIM:236795 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria |
OMIM:204730 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Spastic/hyperactive bladder |
ORPHA:101007 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Nephrolithiasis |
OMIM:301060 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria |
ORPHA:417 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... |
OMIM:300555 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Autosomal Recessive Spastic Paraplegia Type 76 |
|
Skeletal muscle atrophy, Functional abnormality of the bladder, Lower limb muscle weakness |
ORPHA:488594 |
Spastic Paraplegia 31, Autosomal Dominant |
|
Urinary urgency, Skeletal muscle atrophy, Distal amyotrophy, Lower limb muscle weakness |
OMIM:610250 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
Spastic Paraplegia 83, Autosomal Recessive |
|
Urinary urgency |
OMIM:619027 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Generalized aminoaciduria |
OMIM:606528 |
Cerebral Creatine Deficiency Syndrome 3 |
|
Organic aciduria |
OMIM:612718 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Increased level of L-pyroglutamic acid in urine |
OMIM:231900 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Saccharopinuria |
|
Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul... |
ORPHA:3124 |
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss |
|
Renal tubular acidosis, Nephrolithiasis |
OMIM:267300 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Spastic Paraplegia 72, Autosomal Recessive |
|
Urinary bladder sphincter dysfunction |
OMIM:615625 |
Galactose Epimerase Deficiency |
|
Aminoaciduria |
ORPHA:79238 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria |
OMIM:615158 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Inguinal hernia, Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, ... |
OMIM:614376 |
Xanthinuria, Type Ii |
|
Nephrolithiasis, Renal insufficiency, Increased urinary hypoxanthine level, Xanthinuria |
OMIM:603592 |
Hartnup Disorder |
|
Neutral hyperaminoaciduria |
OMIM:234500 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria |
ORPHA:882 |
Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Carnosinuria |
OMIM:309930 |
Autosomal Spastic Paraplegia Type 72 |
|
Urinary bladder sphincter dysfunction |
ORPHA:401849 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... |
OMIM:615862 |
Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Idiopathic Hypercalciuria |
|
Renal calcium wasting, Hypercalciuria, Parathormone-independent increased renal tubular calcium r... |
ORPHA:2197 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Hypotonia-Cystinuria Syndrome |
|
Nephrolithiasis, Cystinuria |
ORPHA:163690 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Hypertryptophanemia |
|
Camptodactyly of finger, Hypertryptophanemia, Generalized joint laxity, Tryptophanuria, Limited e... |
OMIM:600627 |
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect |
|
Methylmalonic acidemia, Methylmalonic aciduria, Hyperhomocystinemia |
OMIM:613646 |
Spastic Paraplegia 13, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon... |
OMIM:605280 |
Dimethylglycine Dehydrogenase Deficiency |
|
Elevated urinary N,N-dimethylglycine level, Elevated circulating creatine kinase concentration, E... |
OMIM:605850 |
Senior-Loken Syndrome 9 |
|
Osteopenia, Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Nephronophthisis |
OMIM:616629 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Elevated... |
OMIM:220150 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria, Positive ferric chloride test |
OMIM:250900 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hyperammonemia |
ORPHA:664 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Recurrent urinary tract infections, Hypoperistalsis, Fetal pyelectasis, Megacystis, Nephrolithiasis |
OMIM:619365 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Hydroureter, Nephrolithiasis |
OMIM:617219 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Mesangial hypercellularity,... |
ORPHA:329918 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, T... |
OMIM:251000 |
Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Pyelonephritis, Myopathy, Hydronephrosis |
OMIM:278300 |
Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria |
ORPHA:33574 |
Spastic Paraplegia 19, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon... |
OMIM:607152 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Flexion contracture, Renal hypoplasia, Lacticaciduria, Aminoaciduria, 3-Methylglutaconic aciduria... |
OMIM:604273 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Hematuria, Nephropathy, Nephrolithiasis |
ORPHA:2196 |
Spastic Paraplegia 12, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon... |
OMIM:604805 |
Vesicoureteral Reflux 8 |
|
Duplicated collecting system, Recurrent urinary tract infections, Vesicoureteral reflux |
OMIM:615963 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:143880 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Hypoplasia of penis, Hypospadias, Nephrolithiasis |
ORPHA:1816 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Lactica... |
OMIM:619386 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis... |
ORPHA:470 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Osteomalacia, Recurrent fractures, Delayed epiphyseal oss... |
OMIM:300009 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Hypouricemia, Large for gestational age, Rickets, Nephrocalcinosi... |
OMIM:616026 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Dent Disease |
|
Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Nephrocalcin... |
ORPHA:1652 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis, Camptodactyly of finger |
DECIPHER:70 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Cystinuria |
ORPHA:163693 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive |
OMIM:612075 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Mac... |
ORPHA:79233 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin... |
OMIM:618384 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma... |
OMIM:134600 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria |
ORPHA:833 |
Glutathione Synthetase Deficiency |
|
Increased level of L-pyroglutamic acid in urine |
OMIM:266130 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Flexion contracture, Elevated circulating creatinine concentration, Ab... |
OMIM:616733 |
Argininosuccinic Aciduria |
|
Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia |
ORPHA:23 |
Hyperuricemia, Hprt-Related |
|
Renal insufficiency, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Renal insufficiency, Proteinuria, Osteomalacia, Recurrent fractures, Rickets, General... |
OMIM:613388 |
Hyperparathyroidism 4 |
|
Nephrolithiasis |
OMIM:617343 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se... |
OMIM:617056 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
Preeclampsia |
|
Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr... |
ORPHA:275555 |
Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil... |
OMIM:619902 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ... |
OMIM:617595 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Proteinuria, Conjugated hyperbilirubinemia, Nephropathy, Nephrocalcinosis, ... |
OMIM:613404 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Rudiger Syndrome |
|
Micropenis, Flexion contracture, Ureterovesical stenosis |
OMIM:268650 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Galactosemia I |
|
Increased level of galactitol in plasma, Aminoaciduria, Albuminuria, Galactosuria, Hypergalactose... |
OMIM:230400 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Uric acid nephrolithiasi... |
ORPHA:411536 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Methylmalonic acidemia, Methylmalonic aciduria, Hyperhomocystinemia, Failure to thrive, Homocysti... |
OMIM:309541 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Hypercalciuria, Hyperphosphaturia, Nephrolithiasis |
OMIM:612286 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... |
ORPHA:228308 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Osteopenia, Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogeni... |
OMIM:611555 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis |
OMIM:612287 |
Glycine Encephalopathy 1 |
|
Hyperglycinemia, Hyperglycinuria |
OMIM:605899 |
Spastic Paraplegia 36, Autosomal Dominant |
|
Urinary urgency, Lower limb muscle weakness, Urinary incontinence |
OMIM:613096 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Nephrolithiasis |
ORPHA:1837 |
Spastic Paraplegia 37, Autosomal Dominant |
|
Urinary urgency, Urinary incontinence |
OMIM:611945 |
Autosomal Dominant Spastic Paraplegia Type 13 |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon... |
ORPHA:100994 |
Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
Cystinuria |
|
Hematuria, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... |
ORPHA:3467 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Urinary urgency |
OMIM:618878 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid conce... |
OMIM:614859 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Aminoaciduria, Elevated circulating creatine kinase concentration |
OMIM:609560 |
Hypouricemia, Renal, 2 |
|
Nephrolithiasis |
OMIM:612076 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hyperalaninemia, Tubulointerstitial nephritis, Failure to thrive |
OMIM:614582 |
Sarcosinemia |
|
Hypersarcosinuria, Hypersarcosinemia |
ORPHA:3129 |
Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Hyperglutaminuria, Increased tota... |
OMIM:616299 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
Familial Expansile Osteolysis |
|
Hydroxyprolinuria, Pathologic fracture, Osteolysis, Thin bony cortex |
OMIM:174810 |
Hereditary Orotic Aciduria |
|
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria |
ORPHA:30 |
Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Proteinuria, Sagittal craniosynostosis |
OMIM:616901 |
Glutathionuria |
|
Urinary incontinence, Glutathionuria |
OMIM:231950 |
X-Linked Immunoneurologic Disorder |
|
Myopathy, Functional abnormality of the bladder |
ORPHA:2571 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria |
ORPHA:1933 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
Spastic Paraplegia 8, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon... |
OMIM:603563 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon... |
OMIM:600363 |
Spastic Paraplegia 3, Autosomal Dominant |
|
Distal lower limb amyotrophy, Urinary incontinence, Urinary urgency, Urinary bladder sphincter dy... |
OMIM:182600 |
Immunoneurologic Disorder, X-Linked |
|
Functional abnormality of the bladder |
OMIM:300076 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Hypomethioninemia, Failure to thrive, Homocystinuria, Hyperhomocystinemia |
OMIM:250940 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Small for gestational age, Conjugated hyperbilirubinemia, Nephropathy, Neph... |
OMIM:208085 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... |
OMIM:619868 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... |
ORPHA:94088 |
Intellectual Developmental Disorder, X-Linked 90 |
|
Enuresis |
OMIM:300850 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Ost... |
OMIM:227810 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Chronic activ... |
OMIM:203800 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... |
OMIM:145001 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Hyperphosphaturia, Hypertriglyceridemia, Rickets, Hypercalciuria, Generalized aminoac... |
ORPHA:2088 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Congenital diaphragmatic hernia, Uni... |
ORPHA:2260 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholestero... |
OMIM:232700 |
Sebocystomatosis |
|
Nephrolithiasis |
ORPHA:841 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Rickets, Renal tubular dysfunction, Hypokalemia, Aminoaciduria,... |
ORPHA:213 |
Flotch Syndrome |
|
Nephrolithiasis |
ORPHA:2045 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... |
OMIM:162000 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine, Elev... |
OMIM:271980 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... |
OMIM:615382 |
Histidinuria Due To A Renal Tubular Defect |
|
Impaired histidine renal tubular absorption, Histidinuria |
OMIM:235830 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon... |
OMIM:607565 |
Myasthenic Syndrome, Congenital, 22 |
|
Cystinuria |
OMIM:616224 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... |
OMIM:618348 |
Macdermot-Winter Syndrome |
|
Hydronephrosis, Camptodactyly of finger |
OMIM:247990 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomeg... |
OMIM:612526 |
Dermotrichic Syndrome |
|
Aminoaciduria |
ORPHA:99688 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Impaired histidine renal tubular absorption, Histidinuria |
ORPHA:2158 |
Interstitial Cystitis |
|
Abnormality of the urethra, Urinary bladder inflammation, Functional abnormality of the bladder, ... |
ORPHA:37202 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Organic aciduria, Failure to thrive in infancy, Hyper... |
ORPHA:6 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:607685 |
Spastic Paraplegia 89, Autosomal Recessive |
|
Functional abnormality of the bladder |
OMIM:620379 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Failure t... |
OMIM:236270 |
Hyperoxaluria, Primary, Type Iii |
|
Hyperoxaluria, Calcium oxalate nephrolithiasis |
OMIM:613616 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
X-Linked Intellectual Disability, Schimke Type |
|
Hip contracture, Failure to thrive in infancy, Ankle flexion contracture, Elbow flexion contractu... |
ORPHA:85285 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... |
OMIM:616828 |
Hypotonia-Cystinuria Syndrome |
|
Facial palsy, Ragged-red muscle fibers, Nephrolithiasis, Cystinuria, Cystine crystalluria |
OMIM:606407 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Spastic Paraplegia 10, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Upper limb muscle weakness, Lower limb hypertonia, Urinary... |
OMIM:604187 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Failure to thrive, Osteomalacia, Hypocitraturia, Rickets, Nephrolithiasis, Ren... |
ORPHA:18 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Lower limb amyotrophy, Urinary bladder sphincter dysfunction, Lower limb muscle weakness |
OMIM:610357 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Hyperalaninemia, Lacticaciduria, Hyperprolinemia |
ORPHA:79246 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Increased bone mineral density, Cortical sclerosis, Elevated circ... |
OMIM:620366 |
Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile |
ORPHA:391417 |
Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricemia, Osteoma... |
ORPHA:3337 |
Sulfite Oxidase Deficiency, Isolated |
|
Sulfocysteinuria, Eczema, Elevated circulating creatine kinase concentration, Increased urinary s... |
OMIM:272300 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Hepatic cysts, Abscess, Abnormality o... |
ORPHA:400 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ... |
ORPHA:488627 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrocalcinosis, Hypercalciuria, Nephrolithiasis, Decreased glomerular filtration rate |
OMIM:601198 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Gyrate Atrophy Of Choroid And Retina |
|
Hyperornithinemia, Aminoaciduria |
ORPHA:414 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury |
ORPHA:54057 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Nephrolithiasis |
OMIM:620023 |
Galactokinase Deficiency |
|
Small for gestational age, Increased level of galactitol in plasma, Increased level of galactitol... |
ORPHA:79237 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight loss, Tubulo... |
ORPHA:139402 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Increased inflammatory res... |
ORPHA:183 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Multiple renal cysts |
DECIPHER:47 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Osteopenia, Increased bone mineral density, Recurrent fr... |
OMIM:239000 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... |
ORPHA:37042 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria |
OMIM:250620 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
Spastic Paraplegia 16, X-Linked |
|
Facial hypotonia, Urinary incontinence, Lower limb amyotrophy, Urinary urgency, Urinary bladder s... |
OMIM:300266 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Renal interstitial edema, Sterile pyuria, ... |
ORPHA:91500 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Calcium oxalate nephrolithiasis |
OMIM:248000 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:603909 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Hyperuricosuria, Uric acid nephrolithiasis, Acute kidney injury |
ORPHA:411543 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Small for gestational age, Skin rash, Chronic kidney dis... |
ORPHA:330015 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Senior-Loken Syndrome |
|
Abnormality of bone mineral density, Chronic kidney disease, Stage 5 chronic kidney disease, Neph... |
ORPHA:3156 |
Tryptophanuria With Dwarfism |
|
Tryptophanuria |
OMIM:276100 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Urinary urgency |
OMIM:605909 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Obesity |
OMIM:608320 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Urinary bladder sphincter dysfunction |
ORPHA:231445 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Inguinal hernia, Abnormality of the kidney, Sagittal craniosynostosis, Tubulointerstitial nephrit... |
ORPHA:459061 |
Leber Congenital Amaurosis 1 |
|
Hyperthreoninuria, Hyperthreoninemia |
OMIM:204000 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Ragged-red muscle fibers, Nephrolithiasis, Myopathy, Generalized amyotrophy, Weakness of facial m... |
ORPHA:352447 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology |
OMIM:609886 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Failure to thrive, Hypourice... |
ORPHA:411634 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Hyperammonemia, Argininosuccinic aciduria, Hyperargininemia, Elevated plasm... |
OMIM:603471 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Aminoaciduria |
OMIM:273400 |
Spinocerebellar Ataxia Type 25 |
|
Urinary urgency, Facial myokymia |
ORPHA:101111 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha... |
OMIM:613095 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... |
OMIM:212050 |
Multiple Sclerosis, Susceptibility To |
|
Urinary hesitancy, Urinary incontinence |
OMIM:126200 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Vesico... |
ORPHA:107 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt... |
OMIM:613845 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipi... |
OMIM:232220 |
Vesicoureteral Reflux, X-Linked |
|
Vesicoureteral reflux |
OMIM:314550 |
Vesicoureteral Reflux 1 |
|
Vesicoureteral reflux |
OMIM:193000 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nephrolithiasis |
OMIM:619827 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
Autosomal Dominant Spastic Paraplegia Type 73 |
|
Urinary urgency, Distal lower limb muscle weakness, Urinary incontinence, Distal lower limb amyot... |
ORPHA:444099 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Hyperca... |
ORPHA:251004 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Recurrent fractures, Hypercalciuria, Amin... |
OMIM:239200 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul... |
ORPHA:33001 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
Bruck Syndrome 2 |
|
Osteopenia, Inguinal hernia, Flexion contracture, Elbow flexion contracture, Knee flexion contrac... |
OMIM:609220 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Hepatosplenomegaly, Ascites, Polycystic kidney dysplasia, Failure to thrive |
OMIM:608776 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea n... |
OMIM:617872 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flex... |
OMIM:608836 |
Renal Glucosuria |
|
Glycosuria, Polyuria, Enuresis nocturna |
OMIM:233100 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... |
OMIM:300554 |
Hyperprolinemia Type 2 |
|
Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Hyperprolinemia, Hypergly... |
ORPHA:79101 |
Cinca Syndrome |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome... |
OMIM:607115 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria |
OMIM:603585 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... |
ORPHA:439232 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hyperammonemia, Hyperornithinemia, Acute hepatitis, Failure to thrive, Homocitrullinuria |
OMIM:238970 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Rickets, Abnormal blood ion concentration, Abnormal tubulointerstitial morphol... |
ORPHA:411629 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Organic aciduria, Elevated circulating creatine kinase concentration |
OMIM:255100 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting renal tubular a... |
ORPHA:47159 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Flexion contracture, Leukopenia, Nephr... |
OMIM:617303 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Osteopenia, Renal hypoplasia, Nephrocalcinosis, Hypokalemia, Aminoacidu... |
OMIM:617913 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Inguinal hernia, Large for gestational age, Umbilical hernia, Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
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Methylmalonic acidemia, Small for gestational age, Elevated circulating creatine kinase concentra... |
OMIM:612073 |
Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... |
OMIM:609583 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:270150 |
Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
ORPHA:2157 |
Coach Syndrome 3 |
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Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... |
OMIM:619113 |
Rhyns Syndrome |
|
Osteopenia, Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
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Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorp... |
OMIM:145981 |
Morbid Obesity And Spermatogenic Failure |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... |
OMIM:615703 |
Small Cell Carcinoma Of The Bladder |
|
Hematuria, Recurrent urinary tract infections, Dysuria |
ORPHA:284400 |
Spastic Paraplegia 4, Autosomal Dominant |
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Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon... |
OMIM:182601 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
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Aminoaciduria |
OMIM:249270 |
Hemorrhagic Fever-Renal Syndrome |
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Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Chronic kidney disease, Hyperkalemia, Elevate... |
ORPHA:340 |
Glucose-Galactose Malabsorption |
|
Hematuria, Renal insufficiency, Nephrolithiasis |
ORPHA:35710 |
Nephronophthisis 15 |
|
Obesity, Nephronophthisis |
OMIM:614845 |
Autosomal Recessive Spastic Paraplegia Type 48 |
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Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incontinence |
ORPHA:306511 |
Analbuminemia |
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Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... |
OMIM:616000 |
Netherton Syndrome |
|
Skin rash, Eczema, Ectopic kidney, Aminoaciduria, Erythroderma, Hydronephrosis |
ORPHA:634 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
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Ketonuria, Large for gestational age, Aminoaciduria, Umbilical hernia, Failure to thrive |
OMIM:614520 |
Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephr... |
ORPHA:39041 |
Hypocalciuric Hypercalcemia, Familial, Type I |
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Hypercalciuria, Hypocalciuria, Nephrolithiasis |
OMIM:145980 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
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Osteopenia, Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Hiatus ... |
OMIM:610199 |
Igg4-Related Retroperitoneal Fibrosis |
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Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, D... |
ORPHA:49041 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
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Hypercalciuria, Hyperphosphaturia, Medullary nephrocalcinosis, Nephrolithiasis |
ORPHA:157215 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Renal hypoplasia, Obesity |
OMIM:615996 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
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Eosinophilic liver infiltration, Eosinophilia, Hepatosplenomegaly, Nephrotic syndrome, Membranous... |
OMIM:618999 |
Caroli Disease |
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Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
Autosomal Dominant Spastic Paraplegia Type 41 |
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Urinary urgency, Lower limb amyotrophy, Hand muscle weakness |
ORPHA:320355 |
Glutaric Acidemia Type 3 |
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Ketonuria, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated circulating gluta... |
ORPHA:35706 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... |
OMIM:208540 |
Eosinophilia, Familial |
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Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Autosomal Dominant Spastic Paraplegia Type 3 |
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Urinary urgency, Lower limb hypertonia, Distal lower limb muscle weakness, Distal lower limb amyo... |
ORPHA:100984 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Generalized amin... |
OMIM:264700 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Obesity, Renal cyst |
OMIM:615987 |
Nephronophthisis 14 |
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Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Stiff Skin Syndrome |
|
Nephrolithiasis |
ORPHA:2833 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... |
ORPHA:85445 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Arthrogryposis multiplex congenita, Beta-aminoisobutyric aciduria, Hyperglycinemia |
OMIM:615330 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Failure to thrive, Aminoaciduria, Polycystic kidney dysplasia, Camptodactyly, Elevated circulatin... |
OMIM:214110 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Lower Urinary Tract Obstruction, Congenital |
|
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... |
OMIM:618612 |
Meckel Syndrome 13 |
|
Flexion contracture, Polycystic kidney dysplasia |
OMIM:617562 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia |
ORPHA:75234 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Hyperuricemia, Gout |
ORPHA:510 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure... |
OMIM:154230 |
Laron Syndrome |
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Hypercholesterolemia, Hypoplasia of penis, Osteoarthritis, Truncal obesity |
ORPHA:633 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Absent urinary urothione... |
OMIM:252150 |
Propionic Acidemia |
|
Organic aciduria, Hyperammonemia |
ORPHA:35 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Neuromyelitis Optica Spectrum Disorder |
|
Functional abnormality of the bladder |
ORPHA:71211 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Osteolysis, Hepatosplenomega... |
ORPHA:464329 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Ketonuria, Seborrheic dermatitis, Hyperglycinuria, Hyperammonemia, Organic ... |
OMIM:210210 |
Propionic Acidemia |
|
Increased level of hippuric acid in urine, Eczema, Osteoporosis, Hyperglycinuria, Hyperammonemia,... |
OMIM:606054 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Ketonuria, Increased... |
ORPHA:247598 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Hyper... |
OMIM:251120 |
Argininosuccinic Aciduria |
|
Failure to thrive, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Aminoaciduri... |
OMIM:207900 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
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Inguinal hernia, Methioninuria, Limitation of joint mobility, Osteoporosis, Hyperhomocystinemia, ... |
OMIM:236200 |
H Syndrome |
|
Hypertriglyceridemia, Lipodystrophy, Abnormality of the kidney, Microcytic anemia, Osteolysis, He... |
ORPHA:168569 |
D-Glyceric Aciduria |
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Hyperglycinemia, Hyperglycinuria, Nonketotic hyperglycinemia, Increased circulating free fatty ac... |
ORPHA:941 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
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Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
ORPHA:436271 |
Ketamine-Induced Biliary Dilatation |
|
Dysuria |
ORPHA:293807 |
Lysinuric Protein Intolerance |
|
Failure to thrive, Hypolysinemia, Recurrent fractures, Increased circulating ferritin concentrati... |
OMIM:222700 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
Gitelman Syndrome |
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Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypermagnesemia, Nocturia, Gout, ... |
ORPHA:358 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Focal segmental glomeru... |
OMIM:232200 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
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Elevated urinary 3-hydroxybutyric acid, Methylmalonic acidemia, Methylmalonic aciduria, Elevated ... |
OMIM:614105 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
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Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Methylmalonic aciduria, Hyperhomocyst... |
OMIM:614857 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Failure to thrive, Elevated circulating alph... |
OMIM:276700 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized aminoacidur... |
ORPHA:289157 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
Sialidosis Type 1 |
|
Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialylated oligosac... |
ORPHA:812 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Lacticaciduria, Elevated circ... |
OMIM:605711 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis |
ORPHA:3327 |
Hawkinsinuria |
|
Abnormal circulating tyrosine concentration, Failure to thrive, 4-hydroxyphenylacetic aciduria, 4... |
ORPHA:2118 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia |
OMIM:211890 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Congenital Myopathy 19 |
|
Congenital contracture, Renal atrophy, Hydronephrosis |
OMIM:618578 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Flexion contracture, Periportal fibrosis, Polycysti... |
OMIM:263210 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, He... |
OMIM:278000 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketonuria |
OMIM:616095 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Increased urinary taurine, Hypocystinemia, Hypouricemia, Hypertaurinemia |
OMIM:615501 |
D-Glyceric Aciduria |
|
Aminoaciduria, Failure to thrive, Nonketotic hyperglycinemia, Micropenis |
OMIM:220120 |
Endove Syndrome, Limb-Brain Type |
|
Joint laxity, Neurogenic bladder, Recurrent urinary tract infections, Osteomyelitis, Umbilical he... |
OMIM:619218 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis |
ORPHA:157991 |
Leukonychia Totalis |
|
Nephrolithiasis |
ORPHA:2387 |
Canavan Disease |
|
Elevated urinary N-acetylaspartic acid level, Increased circulating N-acetylaspartic acid concent... |
OMIM:271900 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Urinary urgency |
ORPHA:314603 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Acute pancreatitis, Elevated circulating creatine kinase concentration, Elevated ci... |
ORPHA:26791 |
Roussy-Lévy Syndrome |
|
Skeletal muscle atrophy, Intrinsic hand muscle atrophy, Distal amyotrophy, Urinary bladder sphinc... |
ORPHA:3115 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ... |
OMIM:309000 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, Osteo... |
ORPHA:79259 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
Castleman Disease |
|
Hematuria, Renal insufficiency, Ureteral obstruction, Elevated circulating C-reactive protein con... |
ORPHA:160 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Roifman Syndrome |
|
Hip contracture, Hepatomegaly, Eosinophilia, Splenomegaly, Lymphadenopathy |
OMIM:616651 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia... |
OMIM:304790 |
Yao Syndrome |
|
Nephrolithiasis |
OMIM:617321 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Jaundice, Schistocytosis, Elevated circu... |
OMIM:274150 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
OMIM:620138 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Decreased calvarial ossification, Decreased body weight, Vesicoureteral reflux,... |
OMIM:618265 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly... |
ORPHA:100024 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Urinary urgency |
OMIM:618418 |
Isovaleric Acidemia |
|
Hyperglycinuria |
OMIM:243500 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Obesity, Renal d... |
OMIM:615993 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Hyperglycinemia, Lacticaciduria |
OMIM:619063 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc... |
OMIM:602080 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Renal insufficiency, Failure to thrive, Hyperammonemia |
ORPHA:28 |
Roifman Syndrome |
|
Hip contracture, Eosinophilia, Delayed proximal femoral epiphyseal ossification, Lymphadenopathy,... |
ORPHA:353298 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Horseshoe kidney, Ure... |
ORPHA:93929 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Medium chain dicarboxylic aciduria, Hyperglycinuria |
OMIM:201450 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic ki... |
OMIM:166300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
OMIM:220110 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Decreased plasma free carnitine, Failure to thrive, Hyperlysinemia, Hyperlysinuria |
OMIM:616034 |
Wilson Disease |
|
Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Proteinuria, ... |
OMIM:277900 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Inguinal hernia, Absent in utero ossification of vertebral bodies... |
OMIM:608022 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hep... |
OMIM:615415 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:609057 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Polycystic liver disease, Renal cyst, Increased total bilirubin |
OMIM:174050 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent skin infections, Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hy... |
OMIM:617744 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Glycogen Storage Disease V |
|
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:232600 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... |
ORPHA:284 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, 3-Methylglutaconic aciduria |
OMIM:619813 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hyperalaninemia, Failure to thrive, Aciduria |
OMIM:617950 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly |
OMIM:619175 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Failure to thrive, Hyperlipidemia, Ketonuria, Glycosuria |
ORPHA:2089 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Hydronephrosis, Elevated circulating C-reactive protein concentration, Weight ... |
ORPHA:449400 |
Marcus-Gunn Syndrome |
|
Nephrolithiasis |
ORPHA:91412 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Weight loss, Elevated circulating creatinine concentration, Proteinuria |
ORPHA:90060 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Urinary urgency, Urinary incontinence |
ORPHA:320365 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal ... |
ORPHA:264580 |
Helix Syndrome |
|
Nephrolithiasis, Renal insufficiency, Hypocalciuria, Polyuria |
OMIM:617671 |
Primary Pulmonary Hypoplasia |
|
Increased circulating surfactant protein level, Ureteral stenosis |
ORPHA:2257 |
8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
6P22 Microdeletion Syndrome |
|
Hydronephrosis, Hernia |
ORPHA:251046 |
Autosomal Dominant Spastic Paraplegia Type 8 |
|
Urinary urgency, Lower limb muscle weakness, Urinary incontinence, Peroneal muscle atrophy |
ORPHA:100989 |
Hand-Foot-Genital Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the urethra, Vesicoureteral reflu... |
ORPHA:2438 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Decreased circulating ca... |
ORPHA:79159 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Abnormal bone structure |
ORPHA:46532 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Coach Syndrome 2 |
|
Hyperechogenic kidneys, Elevated circulating creatinine concentration |
OMIM:619111 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... |
OMIM:277400 |
Systemic Lupus Erythematosus |
|
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis |
OMIM:152700 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia |
OMIM:236110 |
Intermediate Uveitis |
|
Anterior uveitis, Psoriasiform dermatitis, Macular scar, Tubulointerstitial nephritis, Optic neur... |
ORPHA:279914 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Renal hypoplasia/aplasia, Long penis, Abnormal localization of kidney, Polycysti... |
ORPHA:1988 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Renal cyst, Epiphyseal stippling |
OMIM:614870 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... |
ORPHA:2070 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Organic aciduria |
OMIM:617184 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Cholangitis, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Failu... |
OMIM:124000 |
Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Overweight, Flexion contracture, Obesity, Trunca... |
OMIM:616222 |
Meier-Gorlin Syndrome 8 |
|
Unilateral renal hypoplasia, Nephroptosis, Decreased body weight |
OMIM:617564 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... |
ORPHA:169154 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cysts, Increa... |
ORPHA:2924 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Flexion contracture, Elevated circulating creatine kinase concentration |
OMIM:253600 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... |
ORPHA:79240 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria |
OMIM:245050 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Pancreatitis... |
ORPHA:247585 |
Hartnup Disease |
|
Abnormal urinary color, Neutral hyperaminoaciduria |
ORPHA:2116 |
Odontochondrodysplasia 1 |
|
Osteoporosis, Delayed ossification of carpal bones, Polycystic kidney dysplasia, Nephronophthisis... |
OMIM:184260 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Adult Polyglucosan Body Disease |
|
Neurogenic bladder, Urinary bladder sphincter dysfunction, Urinary incontinence |
ORPHA:206583 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia |
ORPHA:35878 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Small for gestational age, Conjugated... |
OMIM:614866 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Urinary urgency, Lower limb muscle weakness |
ORPHA:171612 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91547 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Small for gestational age, Skin rash, Cystathioninuria, Methylmalonic aci... |
OMIM:277380 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Morgagni-Stewart-Morel Syndrome |
|
Acne, Osteoarthritis, Osteoporosis, Obesity, Hyperostosis frontalis interna, Hyperuricemia, Hyper... |
ORPHA:77296 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Enuresis |
OMIM:613670 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati... |
ORPHA:90041 |
Hand-Foot-Genital Syndrome |
|
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Small thenar eminence, Chordee, Ves... |
OMIM:140000 |
Lessel-Kubisch Syndrome |
|
Renal insufficiency, Renal hypoplasia |
OMIM:618681 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Xanthinuria, Increased u... |
OMIM:252160 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Increased urine succinate level, ... |
OMIM:606812 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, In... |
OMIM:620010 |
Plasminogen Deficiency, Type I |
|
Nephritis, Nephrolithiasis |
OMIM:217090 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Inguinal hernia, Sagittal craniosynostosis, Renal magnesium wasting, Chronic kidney... |
OMIM:218330 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Aminoaciduria, Hyp... |
OMIM:619055 |
Syndromic Diarrhea |
|
Hepatomegaly, Inguinal hernia, Small for gestational age, Increased mean platelet volume, Splenom... |
ORPHA:84064 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
ORPHA:64753 |
Alkaptonuria |
|
Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate, Thicke... |
OMIM:203500 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Hyperuri... |
ORPHA:261222 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... |
ORPHA:223 |
Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T... |
ORPHA:90068 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Aminoaciduria |
OMIM:616084 |
Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Hepatic fibrosis, Polysplenia, ... |
OMIM:200995 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Urinary urgency, Urinary hesitancy, Urinary incontinence, Nocturia |
OMIM:609727 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, J... |
OMIM:603552 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia, Renovascular hypertension |
ORPHA:401923 |
Lesch-Nyhan Syndrome |
|
Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria |
OMIM:300322 |
Kimura Disease |
|
Lymphadenopathy, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Homocysti... |
OMIM:277410 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Abnormal renal morphology, Increased body weight, Abnormality of the urinar... |
OMIM:182290 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Bone cyst, Polycystic ova... |
ORPHA:528 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Hyperalaninemia, Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Hyperprolinemia |
OMIM:619003 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Renal tubular dysfunction, Enuresis, Glycosuria, Nephropathy |
ORPHA:69076 |
Urocanic Aciduria |
|
Urocanic aciduria, Abnormal circulating histidine concentration |
ORPHA:210128 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Skeletal muscle atrophy, Urinary incontinence, Thenar muscle atrophy, Urinary urgency, Urinary bl... |
OMIM:604360 |
Cog4-Cdg |
|
Failure to thrive in infancy, Hepatosplenomegaly, Cirrhosis, Hypercholesterolemia, Thrombocytopenia |
ORPHA:263501 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Hypoalbuminem... |
ORPHA:36234 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoargininemia, Hyperglutaminemia, Low plasma... |
OMIM:615751 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Inguinal hernia, Renal hypoplasia, Vesicoureteral reflux, Failure to thrive, Hydronephrosis |
OMIM:613735 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Failure to thriv... |
OMIM:210200 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Organic aciduria |
OMIM:614741 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Craniosynostosis, Large for gestational age, Flexion contracture, Dila... |
ORPHA:314588 |
Mucopolysaccharidosis, Type X |
|
Left ventricular hypertrophy, Nephrolithiasis, Dermatan sulfate excretion in urine |
OMIM:619698 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Joint laxity, Small for gestational age, Conjugated hyperbilirubine... |
OMIM:617093 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Epiphyseal stippling, Aminoaciduria, Albuminuria, Elevated circulating long chain fa... |
OMIM:214100 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Eosinophilia, Craniosynostosis, Cutaneous abscess |
OMIM:147060 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Recurrent otitis media, Hypercholesterolemia, Obesity, Joint hypermobility |
ORPHA:254531 |
Tyrosinemia, Type Iii |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria |
OMIM:276710 |
Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Calcium nephrolithiasis, Renal tubular dysfunction, Hypercalciuria |
OMIM:241530 |
Desmoid Tumor |
|
Limitation of joint mobility, Osteolysis, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
Trimethylaminuria |
|
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the blad... |
ORPHA:29073 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Renal hypoplasia/aplasia, Joint stiffness, Ab... |
ORPHA:819 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Aminoaciduria, Elevated hepatic iron concentration |
OMIM:614946 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia |
OMIM:118830 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Alkaptonuria |
|
Joint stiffness, Osteoarthritis, Nephrolithiasis, Reduced bone mineral density, Arthritis, Aminoa... |
ORPHA:56 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Argininemia |
|
Diaminoaciduria, Oroticaciduria, Hyperargininemia, Hyperammonemia |
OMIM:207800 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Ankle flexion contracture, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase conc... |
OMIM:618120 |
Spastic Paraplegia Type 7 |
|
Ragged-red muscle fibers, Urinary urgency, Upper limb muscle weakness, Lower limb hypertonia, Low... |
ORPHA:99013 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... |
OMIM:229600 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Lymphopenia, Osteopenia, Aplastic anemia, Eosinophilia, Acute lymphoblast... |
ORPHA:486 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ... |
ORPHA:97362 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia |
ORPHA:1046 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Joint contracture of the hand, Eosinophilia, Craniosynostosis |
OMIM:618523 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Flexion contracture, Hepatospl... |
ORPHA:505248 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Polycystic kidney dysplasia, Ascites |
OMIM:614091 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst |
OMIM:613390 |
Autism, Susceptibility To, 3 |
|
Ketonuria |
OMIM:608049 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Inguinal hernia, Unilateral renal agenesis, Ovarian cyst, Subperiosteal bone formatio... |
OMIM:618188 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,... |
OMIM:102700 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Hepatitis, Hepatosplenomegaly, Failure to thrive secondary to recurrent infections,... |
ORPHA:169160 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Renal insufficiency, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Urina... |
OMIM:606071 |
Myh9-Related Disease |
|
Nephropathy, Renal insufficiency, Proteinuria, Nephritis |
ORPHA:182050 |
Jeune Syndrome |
|
Nephropathy, Renal insufficiency, Nephronophthisis |
ORPHA:474 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Hydronephrosis |
OMIM:619797 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... |
OMIM:618963 |
Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia, Hernia |
ORPHA:1745 |
Familial Isolated Hyperparathyroidism |
|
Osteopenia, Hyperphosphaturia, Renal insufficiency, Hypercalcemia, Hypercalciuria, Nephrocalcinos... |
ORPHA:99879 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Axial Osteomalacia |
|
Increased bone mineral density, Polycystic liver disease, Osteomalacia, Elevated circulating crea... |
OMIM:109130 |
Nephronophthisis 19 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... |
OMIM:616217 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Upper limb muscle weakness, Distal amyotrophy, Functional abnormality of the bladder, Leg muscle ... |
ORPHA:100996 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Chronic otitis... |
ORPHA:534 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolit... |
ORPHA:405 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Urinary urgency, Lower limb amyotrophy, Lower limb muscle weakness |
ORPHA:100999 |
Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Eosinophilic Fasciitis |
|
Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Cellulitis |
ORPHA:3165 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Frontometaphyseal Dysplasia |
|
Interphalangeal joint contracture of finger, Hypoplasia of the musculature, Ureteral obstruction,... |
ORPHA:1826 |
Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ur... |
OMIM:304150 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Ketonuria, Glycosuria |
OMIM:618857 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Urinary incontinence, Urinary urgency, Upper limb muscle weakness, Lower limb hypertonia, Upper l... |
OMIM:607259 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... |
ORPHA:2394 |
Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Unilateral renal agenesis, Chronic otitis media, Failure to thrive, Hy... |
OMIM:609757 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidney, ... |
ORPHA:2953 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... |
OMIM:617021 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries |
ORPHA:90301 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Glomerulopathy, Hemolytic-uremic syndrome, Os... |
ORPHA:2169 |
Spinocerebellar Ataxia 42 |
|
Urinary urgency, Urinary incontinence |
OMIM:616795 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Flexion contracture, Polycystic kidney dy... |
ORPHA:261290 |
Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Pyelonephritis, Keloids, Nephritis, Renal dysplasia |
OMIM:314300 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Dysuria, Urinary retention, Abnormality of the urethra, Urinary incontinence |
ORPHA:2795 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... |
ORPHA:416 |
Hyperlysinemia |
|
Failure to thrive, Craniosynostosis, Argininuria, Recurrent pneumonia, Hyperammonemia, Cystinuria... |
ORPHA:2203 |
Spastic Paraplegia 84, Autosomal Recessive |
|
Hip contracture, Ankle flexion contracture, Knee flexion contracture, Urinary urgency, Leg muscle... |
OMIM:619621 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, F... |
ORPHA:79312 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Obesity, Hyposthenuria, Vesicoureteral reflux, Hypernatremia, Hydronephrosis |
OMIM:615926 |
Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Failure to thrive, Cardiomegaly, Conjugated hyperbilirubinemia, Splenom... |
OMIM:269920 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu... |
ORPHA:63 |
Prune Belly Syndrome |
|
Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubu... |
ORPHA:227990 |
Isolated Epispadias |
|
Anteriorly displaced urethral meatus, Epispadias, Vesicoureteral reflux, Urinary incontinence |
ORPHA:93928 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Skin rash, Elevated circulating creatinine concentration, Hyperb... |
ORPHA:542323 |
Otopalatodigital Syndrome Type 2 |
|
Hydronephrosis, Hypospadias, Ureteral obstruction |
ORPHA:90652 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Nephrolithiasis |
OMIM:615474 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... |
ORPHA:158684 |
Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Recurrent fractures, Recurrent pneumonia, Failure to... |
OMIM:609465 |
Interstitial Lung And Liver Disease |
|
Aminoaciduria, Failure to thrive, Hyperammonemia |
OMIM:615486 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, 3-Methylglutaric ac... |
OMIM:246450 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Heme Oxygenase 1 Deficiency |
|
Proteinuria, Elevated circulating C-reactive protein concentration, Increased circulating ferriti... |
OMIM:614034 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Failure to thrive, Hepatic st... |
OMIM:614480 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Urinary incontinenc... |
OMIM:617114 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbil... |
ORPHA:79303 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Proteinuria, Pneumonia, Skin rash, Elevated circulating creatinine concentration, Glomerular scle... |
ORPHA:247691 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Flexion contracture, Abnormal medullary pyra... |
ORPHA:79243 |
Hawkinsinuria |
|
Hypertyrosinemia, Hawkinsinuria, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria |
OMIM:140350 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Nephrolithiasis |
ORPHA:93160 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubu... |
ORPHA:227982 |
Tetraploidy |
|
Radial club hand, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... |
ORPHA:2970 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Holocarboxylase Synthetase Deficiency |
|
Eczema, Hyperammonemia, Keratoconjunctivitis, Weight loss, Organic aciduria, Perioral eczema |
ORPHA:79242 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Generalized aminoaciduria, Hypoalbuminemia,... |
OMIM:251880 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... |
ORPHA:2842 |
Thyrocerebroretinal Syndrome |
|
Nephritis |
OMIM:274240 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Nephrolithiasis |
ORPHA:369929 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Distal lower limb amyotrophy, Dupuytren contracture, Spastic/hyperactive bladder, Upper limb amyo... |
ORPHA:100991 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Urinary incontinence, Urinary urgency, Distal amyotrophy, Urinary bladder sphincter dysfunction, ... |
OMIM:270700 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Splenome... |
OMIM:618892 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... |
OMIM:223900 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Abnormality of connective tissue, Failure... |
ORPHA:79128 |
Joubert Syndrome 15 |
|
Micropenis, Nephronophthisis |
OMIM:614464 |
D-Lactic Aciduria With Gout |
|
Lacticaciduria |
OMIM:245450 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis |
OMIM:249210 |
Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis |
ORPHA:36913 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Inguinal hernia, Hydronephrosis |
OMIM:620141 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Urinary bladder sphincter dysfunction |
ORPHA:320401 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Hydronephrosis, Horseshoe kidney |
OMIM:272950 |
Spinocerebellar Ataxia 25 |
|
Urinary urgency, Facial myokymia |
OMIM:608703 |
Rhyns Syndrome |
|
Osteopenia, Renal insufficiency, Chronic kidney disease, Osteoporosis, Nephronophthisis |
OMIM:602152 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, 3-hydroxydicarb... |
OMIM:619355 |
Leigh Syndrome |
|
Multiple joint contractures, Eczema, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaci... |
ORPHA:506 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... |
OMIM:243910 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:151660 |
Sarcoidosis |
|
Renal insufficiency, Maculopapular exanthema, Scarring, Hypercalcemia, Erythema nodosum, Bone cys... |
ORPHA:797 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, Hypocalcemia, Fa... |
ORPHA:172 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Renal steatosi... |
ORPHA:412 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Decreased circulating cortisol level, Failure... |
ORPHA:199299 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Urinary urgency, Urinary incontinence |
OMIM:612319 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Urinary urgency, Upper limb muscle weakness, Lower limb muscle weakness, Distal lower limb amyotr... |
OMIM:609195 |
Xq28 (MECP2) duplication |
|
Functional abnormality of the bladder |
DECIPHER:45 |
Richards-Rundle Syndrome |
|
Reduced bone mineral density, Ketonuria, Joint stiffness |
ORPHA:1399 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... |
ORPHA:3032 |
Tyrosinemia, Type Ii |
|
Hypertyrosinemia, 4-Hydroxyphenylpyruvic aciduria |
OMIM:276600 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Small for gestational age, Hypospadias, Fractured radius, Multiple prenatal fractures... |
OMIM:616897 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst, Obesity |
OMIM:615982 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Renal insufficiency, Foot joint contracture, Scarring, Proteinuria, Increased blood... |
ORPHA:90321 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Nephrolithiasis |
OMIM:219090 |
Bladder Exstrophy |
|
Recurrent urinary tract infections, Hypoplasia of penis, Epispadias, Abnormality of the ureter, V... |
ORPHA:93930 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Spastic Paraplegia Type 2 |
|
Spastic/hyperactive bladder |
ORPHA:99015 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hyperalaninemia, Failure to thrive, 3-Methylglutaconic aciduria, Hyperammonemia |
OMIM:614739 |
Pgm3-Cdg |
|
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Abnormal proportio... |
ORPHA:443811 |
Bardet-Biedl Syndrome 20 |
|
Proteinuria, Obesity, Hypercholesterolemia, Micropenis, Pancreatitis |
OMIM:619471 |
Joubert Syndrome 37 |
|
Micropenis, Hydronephrosis, Joint hypermobility, Obesity |
OMIM:619185 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neut... |
ORPHA:293173 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2902 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Urolithiasis, Hyperuricosuria, Uric acid nephrolithiasis |
OMIM:300661 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Rhinitis, Increas... |
ORPHA:230 |
Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Hydronephrosis |
OMIM:607598 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Hepatomegaly, Inguinal hernia, Increased serum beta-hexosaminidase, Craniosynostosis,... |
OMIM:252500 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Elevated circulating creatine kina... |
ORPHA:42 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Obesity, Truncal obesity, Recurrent otitis media, Hypercholesterolemia... |
ORPHA:96184 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis |
OMIM:619362 |
Carnitine Palmitoyltransferase I Deficiency |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Renal ... |
OMIM:255120 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-react... |
ORPHA:900 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Hematuria,... |
ORPHA:93552 |
Primary Sjögren Syndrome |
|
Renal insufficiency, Myositis, Chronic active hepatitis, Abnormality of the kidney, Glomeruloneph... |
ORPHA:289390 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria |
ORPHA:95626 |
Recombinant Chromosome 8 Syndrome |
|
Joint contracture of the hand, Hydronephrosis, Camptodactyly |
OMIM:179613 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Central Diabetes Insipidus |
|
Nocturia |
ORPHA:178029 |
Immunodeficiency 23 |
|
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Eosinophilia, Absc... |
OMIM:615816 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:613313 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... |
OMIM:113650 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, H... |
ORPHA:116 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Flexion contracture, Hyperammone... |
ORPHA:1194 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Ste... |
OMIM:602579 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis |
ORPHA:97289 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Abnormal cortical bone morphology, Craniofacial hyperostosis, Anemia |
ORPHA:1802 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Failure to thrive, Abnormal circulating carnitine concentration, Renal tubular acidosis, Organic ... |
ORPHA:431361 |
Epidermal Nevus Syndrome |
|
Lipoma, Osteopenia, Polycystic kidney dysplasia |
ORPHA:35125 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Large for gestational age, Decreased circulating free fatty acid level, Increased circ... |
ORPHA:79644 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Renal hypoplasia |
OMIM:619053 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:259900 |
Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Macroglossia, Vesicoure... |
OMIM:130650 |
Nail-Patella Syndrome |
|
Flexion contracture, Reduced bone mineral density, Knee flexion contracture, Nephritis, Limited p... |
ORPHA:2614 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... |
ORPHA:79403 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent... |
OMIM:616860 |
Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Gout, Hematur... |
OMIM:232800 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... |
ORPHA:91139 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti... |
ORPHA:447 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hypospadias, Elevated circulating creatine kinase concentration, Sm... |
OMIM:301056 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Urinary urgency |
OMIM:617225 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Abnormality of the urinary system, Ureteral stenosis |
ORPHA:2719 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Conjugat... |
OMIM:619662 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Failure to thrive, Lacticaciduria |
OMIM:618811 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Failure to thrive, Hypoalbuminemia, Camptodactyly |
OMIM:608104 |
Arachnoiditis |
|
Urinary bladder sphincter dysfunction |
ORPHA:137817 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Lipoatrophy, Abnormality of the lymphatic system, Multiple lipomas, Nephroblastoma, Ovarian serou... |
ORPHA:276280 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Epiphyseal stippling, Stippled calcific... |
OMIM:302960 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Unilateral renal agenesis, Renal hypoplasia, Recurrent otitis media, Hydronephrosis, Joint hyperm... |
OMIM:618494 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Joint hyperflexibility, Vesi... |
ORPHA:1475 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Urinary urgency, Lower limb amyotrophy, Lower limb muscle weakness, Urinary incontinence |
ORPHA:100993 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Stage 5 chronic kidney disease, R... |
OMIM:613159 |
Foix-Alajouanine Syndrome |
|
Distal lower limb amyotrophy, Neurogenic bladder, Urinary incontinence, Functional abnormality of... |
ORPHA:79093 |
Aspergillosis |
|
Abnormality of the kidney, Hepatitis, Eosinophilia, Neutropenia |
ORPHA:1163 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Renal cell carcinoma, Nephrolithiasis, Proximal amyotrophy |
ORPHA:189427 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:301050 |
Melnick-Needles Syndrome |
|
Omphalocele, Craniofacial hyperostosis, Osteolytic defects of the phalanges of the hand, Joint hy... |
ORPHA:2484 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia |
ORPHA:100025 |
Mesomelia-Synostoses Syndrome |
|
Joint stiffness, Umbilical hernia, Metatarsal synostosis, Synostosis of joints, Hydronephrosis, S... |
ORPHA:2496 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:99880 |
Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Nephropathy, Flexion contracture, Osteoporosis, Umbi... |
ORPHA:87876 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Nephrolithiasis, Abnormality of the kidney |
ORPHA:521445 |
15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis |
ORPHA:314585 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Lymphadenitis, Abnormality of the lym... |
ORPHA:2035 |
Hereditary Folate Malabsorption |
|
Recurrent urinary tract infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to ... |
ORPHA:90045 |
Suleiman-El-Hattab Syndrome |
|
Inguinal hernia, Failure to thrive, Hydronephrosis |
OMIM:618950 |
Split-Hand/Foot Malformation 3 |
|
Renal hypoplasia, Camptodactyly |
OMIM:246560 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... |
OMIM:300635 |
Congenital Analbuminemia |
|
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Decreased calvarial ossification, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:617866 |
Tetrasomy 15Q26 |
|
Hydronephrosis, Horseshoe kidney, Camptodactyly |
OMIM:614846 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Osteopenia, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipos... |
OMIM:248370 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, Alpha-aminoadipic aciduria |
OMIM:620089 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Obesity, Nephronophthisis |
OMIM:615630 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Ketonuria, Methylmalonic aciduria, Hyperammonemia, Hyperglycinemia, Failu... |
OMIM:251110 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:143 |
Pandas |
|
Enuresis |
ORPHA:66624 |
Spastic Ataxia 3, Autosomal Recessive |
|
Urinary urgency, Neurogenic bladder |
OMIM:611390 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy... |
ORPHA:275761 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... |
OMIM:616307 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration, Epiphys... |
OMIM:614862 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Omphalocele, Hypoplasia of the bladder, Renal agenesis, Camptodactyly of finger... |
OMIM:249000 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hyperammonemia, ... |
OMIM:251100 |
Gapo Syndrome |
|
Nephrolithiasis |
ORPHA:2067 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Urinary... |
OMIM:618885 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis |
OMIM:617661 |
Isolated Atp Synthase Deficiency |
|
Hyperalaninemia, 3-Methylglutaconic aciduria, Renal hypoplasia, Hyperammonemia |
ORPHA:254913 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hydronephrosis, Hypoplasia of penis, Camptodactyly of finger |
ORPHA:2083 |
Spinal Arteriovenous Metameric Syndrome |
|
Urinary bladder sphincter dysfunction, Abnormality of the kidney |
ORPHA:53721 |
Wells Syndrome |
|
Eosinophilia, Cellulitis |
ORPHA:901 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis |
OMIM:612126 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Renal insufficiency, Pancreatitis, Hyperammonemia |
ORPHA:289916 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Nephropathy, Proximal tubulopathy, Multiple renal cysts |
ORPHA:3033 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Dentinogenesis imperfecta, Obesity, Periodontitis, Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the ureter... |
ORPHA:1834 |
Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
Diabetic Embryopathy |
|
Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:1926 |
Citrullinemia, Classic |
|
Failure to thrive, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Elevated pla... |
OMIM:215700 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Umbi... |
OMIM:617237 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Coccidioidomycosis |
|
Renal insufficiency, Eosinophilia, Abnormality of the kidney, Abscess, Abnormality of the spleen,... |
ORPHA:228123 |
Congenital Myopathy 17 |
|
Renal hypoplasia, Myopathy, Distal arthrogryposis, Diaphragmatic eventration, Ureteropelvic junct... |
OMIM:618975 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Hemoglobinuria,... |
ORPHA:90038 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia, Cellulitis |
OMIM:606232 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypospadias, Failure to thrive, Hypoproteinemia, Hydronephrosis |
ORPHA:2315 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst |
OMIM:617478 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Failure to thrive, Decreased circulating coppe... |
OMIM:300972 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Obesity |
OMIM:600151 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Renal h... |
OMIM:118450 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Hyperhomocystinemia, Cystathioninemia, Failure to thrive, Homocystinuria |
ORPHA:395 |
Igg4-Related Pachymeningitis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenitis, Nephritis, Pa... |
ORPHA:449427 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Failure to thrive, Limb joint contracture, Small for gestational age, Achilles tendon contracture... |
ORPHA:404454 |
Intellectual Disability, Buenos-Aires Type |
|
Umbilical hernia, Hydronephrosis, Reduced bone mineral density |
ORPHA:3079 |
Joubert Syndrome 3 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Failure to thrive, Ketonuria, Hyperammonemia |
OMIM:615453 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Decreased muscle mass, Renal agenesis, Ectopic kidney,... |
ORPHA:3027 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... |
OMIM:620282 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Failure to thrive, Hydronephrosis |
ORPHA:488613 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Skeletal muscle atrophy, Urinary retention, Urinary incontinence, Foot dorsiflexor weakness |
OMIM:616586 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Failure to thrive, Hyperglutamatemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hyp... |
OMIM:620358 |
Enamel-Renal Syndrome |
|
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... |
ORPHA:1031 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst... |
OMIM:614227 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormally ossified vertebrae, Scarring alopecia of scalp, Flexion contracture, Neonatal epiphyse... |
ORPHA:35173 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy |
OMIM:600057 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, ... |
ORPHA:508 |
Coach Syndrome 1 |
|
Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Splenomegaly, Multiple small medull... |
OMIM:216360 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Hydronephrosis |
OMIM:222300 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangitis, Thrombocytop... |
ORPHA:3260 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
East Syndrome |
|
Renal salt wasting, Renal magnesium wasting, Enuresis, Abnormal urinary electrolyte concentration... |
ORPHA:199343 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Congenital diaphragmatic hernia... |
OMIM:194080 |
Silver-Russell Syndrome 1 |
|
Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Neph... |
OMIM:180860 |
Loeffler Endocarditis |
|
Left ventricular hypertrophy, Eosinophilia, Weight loss |
ORPHA:75566 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruction, Renal dy... |
OMIM:601389 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
Pure Autonomic Failure |
|
Dysuria, Urinary incontinence |
ORPHA:441 |
9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis, Craniosynostosis |
ORPHA:531151 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypospadias |
OMIM:610644 |
Alexander Disease Type Ii |
|
Limb muscle weakness, Urinary bladder sphincter dysfunction |
ORPHA:363722 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
22Q11.2 Deletion Syndrome |
|
Inguinal hernia, Hypospadias, Abnormal dental enamel morphology, Abnormality of the tonsils, Sple... |
ORPHA:567 |
Kanzaki Disease |
|
Increased urinary O-linked sialopeptides, Aminoaciduria |
OMIM:609242 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Abnormality of the urinary system, Ab... |
ORPHA:2204 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Craniosynostosis, Decreased proportion of CD8-positive T cells, Hypereosinophilia, ... |
ORPHA:508533 |
Hypoplasminogenemia |
|
Nephrolithiasis |
ORPHA:722 |
Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia |
OMIM:610163 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Sterile abscess, Eosinophilia, Cutaneous abscess |
OMIM:618282 |
Insulin-Resistance Syndrome Type B |
|
Decreased body weight, Proteinuria, Pneumonia, Skin rash, Abnormality of body weight, Abnormal ci... |
ORPHA:2298 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Joint laxity, Decreased serum zinc, Esophagitis, Hydronephrosis |
ORPHA:541423 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Inguinal hernia, Transient neutropenia, Multicystic kidney dysplasia, Chronic ... |
ORPHA:500095 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Osteoporosis, Horseshoe kidney, Increased mean corpuscular volume,... |
OMIM:612562 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... |
OMIM:271500 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Micropenis, Slender build, Hydronephrosis |
ORPHA:364028 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
Trisomy 13 |
|
Abnormality of the ureter, Multiple renal cysts, Hernia, Displacement of the urethral meatus, Hyd... |
ORPHA:3378 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Failure to thrive, Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citru... |
OMIM:311250 |
Meckel Syndrome 14 |
|
Decreased calvarial ossification, Hepatic fibrosis, Polycystic kidney dysplasia |
OMIM:619879 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Renal malrotation, Eosinophilia, Pancreatic cysts, Leukocytosis, Dilatation... |
OMIM:274000 |
Esophagitis, Eosinophilic, 2 |
|
Failure to thrive, Eosinophilia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Failure to thrive, Eosinophilia |
OMIM:610247 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Alg9-Cdg |
|
Omphalocele, Hepatomegaly, Hypoplasia of the bladder, Lipodystrophy, Ureteral hypoplasia, Hepatic... |
ORPHA:79328 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Enuresis, Achalasia |
ORPHA:289483 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:611773 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne... |
OMIM:300908 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis |
OMIM:300048 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:212140 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N... |
OMIM:214900 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Elevated urinary norepinephrine level, Hypercalciuria, Neph... |
ORPHA:653 |
Toluene Embryopathy |
|
Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Low plasma citrulline, Renal steatosis, Ketonuria |
OMIM:261680 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Increased... |
OMIM:616050 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Inguinal hernia, Hypospadias, Osteoporosis, Renal cyst, Foot acroosteolysis, Osteolyt... |
OMIM:102500 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Nocturia, Increased blood urea nitrogen |
OMIM:223360 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Micropenis, Hydronephrosis |
OMIM:269150 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia |
OMIM:243700 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... |
ORPHA:2686 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Lacticaciduria |
OMIM:618247 |
Holocarboxylase Synthetase Deficiency |
|
Skin rash, Hyperammonemia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hy... |
OMIM:253270 |
Erdheim-Chester Disease |
|
Renal insufficiency, Increased bone mineral density, Osteomyelitis, Dysuria, Skin rash, Osteolysi... |
ORPHA:35687 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... |
ORPHA:507 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Osteogenesis Imperfecta, Type X |
|
Nephrolithiasis |
OMIM:613848 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
Babesiosis |
|
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Thromboc... |
ORPHA:108 |
X-Linked Intellectual Disability, Armfield Type |
|
Inguinal hernia, Aminoaciduria, Galactosuria, Organic aciduria, Limited elbow extension |
ORPHA:85276 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hyperalaninemia, Failure to thrive, Stage 5 chronic kidney disease, Lacticaciduria |
OMIM:618250 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney ... |
ORPHA:2237 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Hyponatremia... |
OMIM:619991 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly, Abnormality of iron homeostasis |
ORPHA:75563 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Renal insufficiency, Hypospadias, Failure to thrive in infancy, Hemolytic-uremic synd... |
OMIM:611209 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Thyroiditis, Weight loss, Tubulointerstitial nephritis, Keratoconjunctivitis sicca |
ORPHA:79078 |
Glutaric Acidemia I |
|
Elevated circulating glutaric acid concentration, Glutaric aciduria, Ketonuria, Failure to thrive |
OMIM:231670 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Osteoporosis, Cirrhosis, Failure... |
ORPHA:79301 |
Meacham Syndrome |
|
Accessory spleen, Aplasia of the right hemidiaphragm, Horseshoe kidney, Aplasia of the left hemid... |
OMIM:608978 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
22Q11.2 Duplication Syndrome |
|
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis |
ORPHA:1727 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Hydronephrosis |
OMIM:220210 |
Joubert Syndrome 18 |
|
Intrahepatic biliary atresia, Horseshoe kidney, Renal cyst, Camptodactyly |
OMIM:614815 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the urinary system physiology, Ne... |
ORPHA:2552 |
Trisomy 1Q |
|
Omphalocele, Multicystic kidney dysplasia, Camptodactyly of finger, Congenital diaphragmatic hern... |
ORPHA:261344 |
Ogden Syndrome |
|
Global glomerulosclerosis, Inguinal hernia, Cardiomegaly, Microvesicular hepatic steatosis, Jaund... |
OMIM:300855 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Eosinophilia, Craniosynostosis, Cellulitis |
ORPHA:2314 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Fatty replacement of skeletal muscle, Generalized amyotrophy, Increased variability in muscle fib... |
ORPHA:52430 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Hepatomegaly, Proteinuria, Abnormal subcutaneous fat tissue distribution, Flexion con... |
OMIM:212065 |
Kury-Isidor Syndrome |
|
Recurrent otitis media, Hydronephrosis |
OMIM:619762 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Flexion contracture, Urinary urgency, Distal amyotrophy, Camptodactyly, Lower limb muscle weakness |
OMIM:275900 |
Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Abnorm... |
ORPHA:552 |
Orofaciodigital Syndrome Xvii |
|
Micropenis, Renal hypoplasia, Decreased body weight |
OMIM:617926 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hematuria, Hyperlipidemia, Joint hemorrhage, Hyperuricemia |
ORPHA:35909 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Tracheomalacia, Chronic otitis media, Limi... |
ORPHA:261494 |
Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Camptodactyly of finger, Interphalangeal joint contracture of finger, Ankle flexion ... |
OMIM:305620 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Proteinuria, Failure to thrive in infancy, Splenomegaly, Reduced bone mineral densi... |
ORPHA:834 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Trisomy 20P |
|
Inguinal hernia, Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Abnormality of ... |
ORPHA:261318 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Failure to thrive, Hydronephrosis, Recurrent pneumonia |
OMIM:619179 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Ureteral agenesis, Congenital megaureter, Abnormality of the... |
ORPHA:2437 |
Hereditary Hemorrhagic Telangiectasia |
|
Hematuria, Nephrolithiasis |
ORPHA:774 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... |
OMIM:619658 |
Melnick-Needles Syndrome |
|
Ureteral stenosis, Hydronephrosis |
OMIM:309350 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter |
ORPHA:1035 |
Distal Deletion 12Q |
|
Failure to thrive in infancy, Ectopic kidney, Elbow flexion contracture, Biliary atresia, Annular... |
ORPHA:96149 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Branchioskeletogenital Syndrome |
|
Micropenis, Ureteral stenosis, Bladder exstrophy, Penoscrotal hypospadias |
ORPHA:1299 |
Carpenter Syndrome 1 |
|
Omphalocele, Hydroureter, Sagittal craniosynostosis, Obesity, Lambdoidal craniosynostosis, Campto... |
OMIM:201000 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anisocytosis, Anemia ... |
OMIM:224120 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Failure to thrive, Multiple renal cysts, Renal cyst |
OMIM:614883 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Horseshoe kidney, Hypoalbuminemia, Camptodactyly, Vesicoureteral reflux, Umbilica... |
OMIM:235510 |
Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Epiphyseal stippling, Failure to thrive, Hydronephrosis |
ORPHA:912 |
Alpha-1-Antitrypsin Deficiency |
|
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
Encephalocraniocutaneous Lipomatosis |
|
Lipoma, Pelvic kidney, Multiple central nervous system lipomas, Hydronephrosis, Subcutaneous lipoma |
OMIM:613001 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Abnormality of the ureter... |
ORPHA:800 |
Heterotaxy, Visceral, 1, X-Linked |
|
Omphalocele, Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Biliary atresia, Horseshoe kid... |
OMIM:306955 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bon... |
OMIM:256550 |
Low Phospholipid-Associated Cholelithiasis |
|
Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, Biliary cirrhosis, Obesity, Neo... |
ORPHA:69663 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, C... |
OMIM:612714 |
Vacterl/Vater Association |
|
Omphalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Cong... |
ORPHA:887 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... |
OMIM:618398 |
Joubert Syndrome 39 |
|
Overweight, Joint contracture of the 5th finger, Polycystic kidney dysplasia |
OMIM:619562 |
Aredyld Syndrome |
|
Hepatomegaly, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology, Cachexia... |
ORPHA:1133 |
Porphyria, Acute Intermittent |
|
Dysuria, Urinary retention, Urinary incontinence, Elevated urinary delta-aminolevulinic acid |
OMIM:176000 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kinase concentrat... |
OMIM:201475 |
Zaki Syndrome |
|
Renal agenesis, Hydronephrosis, Congenital diaphragmatic hernia |
OMIM:619648 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... |
OMIM:194380 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Unilateral renal ... |
OMIM:614576 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Delayed ossification of carpal bones, Eosinophilia, Hepatic cysts |
OMIM:617425 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cho... |
OMIM:607765 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C... |
OMIM:602390 |
Cenani-Lenz Syndactyly Syndrome |
|
Renal agenesis, Ectopic kidney, Renal hypoplasia, Radioulnar synostosis, Metacarpal synostosis, E... |
OMIM:212780 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Renal insufficiency, Pancreatitis, Hyperammonemia |
ORPHA:27 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... |
OMIM:613839 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypomagnesemi... |
OMIM:619743 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb joint contracture, Hydronephrosis |
OMIM:620327 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Inguinal hernia, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephrosis |
OMIM:235255 |
Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia |
ORPHA:37748 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Vertebral fusion, Hypospadias, Abnormal dental enamel morphology, Joint hyp... |
ORPHA:96169 |
Spinocerebellar Ataxia 10 |
|
Urinary urgency, Urinary incontinence |
OMIM:603516 |
Gabriele-De Vries Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:617557 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Increased hepatic glycogen content, Hyperuricemia, Hepatomegaly |
OMIM:261750 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Multiple renal cysts, Congenital diaphragmatic hernia, Renal hypoplasia/ap... |
ORPHA:1166 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... |
ORPHA:71212 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Joint laxity, Inguinal hernia, Flexion contracture, Camptodactyly, Umbilical hernia,... |
ORPHA:254528 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation, Osteopetrosis |
OMIM:618541 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Chronic pancreatitis, Hyperlipidemia, Gout, Hematuria, Focal se... |
OMIM:232240 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria, Hypoalbuminemia, Hyperbili... |
OMIM:613070 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... |
ORPHA:158061 |
Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Urinary urgency |
OMIM:619286 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Urinary urgency |
OMIM:601338 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney disease, Early os... |
OMIM:208500 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... |
ORPHA:98870 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
ORPHA:540 |
Developmental And Epileptic Encephalopathy 50 |
|
Renal tubular acidosis, Failure to thrive, Oroticaciduria, Hyperammonemia |
OMIM:616457 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Corneal scarring, Vesicoureteral reflux, Join... |
OMIM:618460 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Multicystic kidne... |
OMIM:619774 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... |
OMIM:618849 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decrease... |
ORPHA:99901 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:611762 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:606721 |
Majeed Syndrome |
|
Hepatomegaly, Increased bone mineral density, Glomerulopathy, Proteinuria, Failure to thrive, Cac... |
ORPHA:77297 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt... |
ORPHA:79477 |
Roberts Syndrome |
|
Progressive flexion contractures, Craniosynostosis, Long penis, Knee flexion contracture, Polycys... |
ORPHA:3103 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, P... |
ORPHA:811 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Glomerulopathy, Hypertriglyceridemia,... |
ORPHA:2348 |
Malakoplakia |
|
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy |
ORPHA:556 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Xeroderma Pigmentosum |
|
Craniofacial hyperostosis, Keratitis, Aminoaciduria, Failure to thrive, Blepharitis |
ORPHA:910 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Thrombocytopenia, ... |
ORPHA:64743 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Inguinal hernia, Abnormal renal morphology, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephr... |
ORPHA:1655 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
Joubert Syndrome 6 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst |
OMIM:231060 |
15q26 overgrowth syndrome |
|
Renal agenesis, Camptodactyly of finger, Craniosynostosis, Abnormality of the kidney, Horseshoe k... |
DECIPHER:81 |
Adrenoleukodystrophy |
|
Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incontinence |
OMIM:300100 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Noonan Syndrome 4 |
|
Ureteral duplication, Hydronephrosis, Large for gestational age |
OMIM:610733 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea... |
OMIM:620300 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2522 |
Branchio-Oculo-Facial Syndrome |
|
Atypical scarring of skin, Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the ga... |
ORPHA:171 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Arthrogryposis multiplex congenita, Renal dysplasia |
OMIM:236500 |
Pfeiffer Syndrome Type 3 |
|
Tracheomalacia, Limitation of joint mobility, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... |
ORPHA:93260 |
Diaphanospondylodysostosis |
|
Multiple renal cysts, Absent or minimally ossified vertebral bodies |
ORPHA:66637 |
Netherton Syndrome |
|
Failure to thrive, Hypereosinophilia |
OMIM:256500 |
Birt-Hogg-Dube Syndrome 1 |
|
Multiple lipomas, Renal cell carcinoma, Renal cyst, Renal neoplasm |
OMIM:135150 |
Mucoepithelial Dysplasia, Hereditary |
|
Hematuria, Eosinophilia |
OMIM:158310 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... |
OMIM:192350 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Left ventricular hypertrophy, Hypercholesterolemia, Leukocytosis |
ORPHA:90065 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hydronephrosis, Neurogenic bladder, Failure to thrive, Elevated circulating creatine kinase conce... |
OMIM:608779 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Knee flexion contracture, Radioulnar synostosis, A... |
ORPHA:85201 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Bone marrow hypoc... |
ORPHA:445038 |
Orofaciodigital Syndrome I |
|
Proteinuria, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Polycystic kidney dysplasia, Ename... |
OMIM:311200 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Hepatic ... |
OMIM:614922 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... |
ORPHA:159 |
Visceral Myopathy 1 |
|
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis |
OMIM:155310 |
Spinocerebellar Ataxia Type 13 |
|
Urinary urgency, Torticollis, Urinary incontinence |
ORPHA:98768 |
Cln3 Disease |
|
Left ventricular hypertrophy, Urinary bladder sphincter dysfunction |
ORPHA:228346 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Hydronephrosis, Craniosynostosis |
ORPHA:457193 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Ketonuria, Elevated circulating creatine kinase concentration, Highly elevated creatine kinase, 3... |
OMIM:251900 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Tarsal synostosis, Renal hypoplasia/aplasia, Gl... |
ORPHA:2473 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Abnormality of the ureter, Camptodactyly of finger, Flexion contracture of toe |
ORPHA:3409 |
Micro Syndrome |
|
Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney, Joint stiffness |
ORPHA:2510 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Urinary urgency |
OMIM:609270 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis |
ORPHA:66661 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Joint laxity, Hypoplasia of the bladder, Hydroureter, Small for gestational age, Craniosynostosis... |
OMIM:300707 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Congenital diaphragmatic hernia, Blad... |
OMIM:614080 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Micropenis, Joint contracture of the hand, Hydronephrosis, Camptodactyly |
OMIM:612513 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Flexion contracture, Spastic/hyperactive bladder, Generalized limb muscle atrophy, Leg muscle sti... |
ORPHA:137898 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrolithiasis, Nephrocalcinosis, Macroglossia, Micropenis, Hydronephrosis, Renal duplication |
OMIM:268310 |
Cerebellar-Facial-Dental Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis |
ORPHA:444072 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Bronchiectasis, Elevated circulating C-reactive pr... |
ORPHA:79126 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru... |
OMIM:211600 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Eosinophilia, Cholangitis, Abnormality of the kidney, Retroperitoneal fibros... |
ORPHA:449432 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Shoulder flexion contracture, Delayed epiphyseal ossification, Flexion contractu... |
OMIM:210710 |
Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Congenital diaphragmatic hernia, Abnormality of the ureter, Elbow flexion contrac... |
OMIM:200980 |
Iatrogenic Botulism |
|
Urinary retention |
ORPHA:254509 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Fused cervical vertebrae, ... |
OMIM:607323 |
Osteopetrosis With Renal Tubular Acidosis |
|
Elevated circulating creatine kinase concentration, Recurrent fractures, Proximal renal tubular a... |
ORPHA:2785 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Wound Botulism |
|
Urinary retention |
ORPHA:178475 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension |
OMIM:616589 |
Legius Syndrome |
|
Nephroblastoma, Male urethral meatus stenosis, Nephrolithiasis |
ORPHA:137605 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
Urachal Cyst |
|
Hematuria, Urachus fistula, Dysuria, Pyuria |
ORPHA:488 |
X-Linked Adrenoleukodystrophy |
|
Neurogenic bladder, Urinary bladder sphincter dysfunction, Leg muscle stiffness |
ORPHA:43 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Camptodactyly of finger, Renal hypoplasia/aplasia, Hydronephrosis |
ORPHA:568 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Neurogenic bladder, Ureteropelvic junction obstruction, Lower limb muscle weakness, Hydronephrosi... |
OMIM:616973 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Flexion cont... |
OMIM:308050 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color, Increased total bilirubin |
ORPHA:90037 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Micropenis, Hepatic fibrosis, Polycystic kidney dysplasia |
OMIM:263520 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Tarsal synostosis |
ORPHA:1307 |
1Q21.1 Microdeletion Syndrome |
|
Inguinal hernia, Joint hyperflexibility, Vesicoureteral reflux, Failure to thrive, Hydronephrosis |
ORPHA:250989 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Lower limb amyotrophy, Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence |
ORPHA:466722 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co... |
OMIM:603553 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel... |
ORPHA:98848 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Urinary urgency, Generalized amyotrophy, Urinary incontinence |
OMIM:601162 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Ureteral stenosis, Renal hypoplasia |
OMIM:270100 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias... |
OMIM:611881 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Pearson Syndrome |
|
Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytos... |
ORPHA:699 |
Orotic Aciduria |
|
Hematuria, Failure to thrive, Oroticaciduria, Orotic acid crystalluria |
OMIM:258900 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Flexion contracture, Renal hypoplasia, Abdominal obesity, Azotemia, Micropenis |
OMIM:619321 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Sp... |
ORPHA:79083 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Camptodactyly of finger, Splenomegaly, Nephrotic syndrome, Renal amyloidosis, Nephr... |
ORPHA:575 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating creatine kinase concentration, Hepatitis, Chronic hepatitis, Recurrent otiti... |
OMIM:614921 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia, Elevated circulating C-reactive protei... |
OMIM:619632 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Failure to thrive, Aplastic anemia, Pancreatic steatosis, T... |
OMIM:617052 |
Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Multicystic kidney dysplasia, Abnormal dental enamel morphology, Co... |
ORPHA:2092 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... |
ORPHA:1451 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Recurrent pneumonia, Hypospadias, Hydronephrosis |
OMIM:616449 |
Exstrophy-Epispadias Complex |
|
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... |
ORPHA:322 |
Raine Syndrome |
|
Increased bone mineral density, Hydroureter, Subperiosteal bone formation, Hypophosphatemia, Arth... |
OMIM:259775 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Limitation of joint mobility, Vesicoureteral reflux, Arthrogryposis mult... |
ORPHA:96061 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polyuria, Renal salt wasting, Enuresis, Hypocalciuria, Renal sodium wasting, Renal potassium wasting |
OMIM:612780 |
Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Failu... |
ORPHA:2470 |
3C Syndrome |
|
Inguinal hernia, Hypoplasia of penis, Hypospadias, Hydronephrosis |
ORPHA:7 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemia, Increased circulat... |
OMIM:613179 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Inguinal hernia, Congenital diaphragmatic hernia, Renal hypoplasia, Horseshoe ... |
OMIM:601186 |
Meckel Syndrome, Type 10 |
|
Hypospadias, Malformation of the hepatic ductal plate, Renal cyst, Camptodactyly, Micropenis |
OMIM:614175 |
Baller-Gerold Syndrome |
|
Failure to thrive in infancy, Abnormality of the ureter, Abnormal localization of kidney, Vesicou... |
ORPHA:1225 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Congenital diaphragmatic hernia |
OMIM:616546 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
D-Bifunctional Protein Deficiency |
|
Osteopenia, Hepatomegaly, Fetal ascites, Splenomegaly, Renal cyst, Cholestasis, Bile duct prolife... |
OMIM:261515 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Congenital diaphragmatic hernia, Ectopic kidney, Unilateral ... |
OMIM:617641 |
Neuromuscular Oculoauditory Syndrome |
|
Elevated circulating creatine kinase concentration, Knee flexion contracture, Multiple renal cyst... |
OMIM:618733 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Recurrent urinary tract infections, Small for gestational age, Eczema, Vesicour... |
OMIM:610443 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... |
ORPHA:391641 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Hyperuricemia, Hyperammonemia, Weight loss |
ORPHA:134 |
Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Proteinuria, Hypersplenis... |
ORPHA:77259 |
Verheij Syndrome |
|
Small for gestational age, Renal agenesis, Renal hypoplasia, Renal cyst |
OMIM:615583 |
Meckel Syndrome, Type 7 |
|
Inguinal hernia, Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pa... |
OMIM:267010 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Failure to thrive,... |
OMIM:618495 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatomegaly, Renal cyst, Epiphyseal stippling, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Renal hypoplasia, Renal cyst, Micr... |
OMIM:618454 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... |
ORPHA:381 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Lym... |
OMIM:615895 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... |
OMIM:618935 |
Tarp Syndrome |
|
Failure to thrive, Hydronephrosis, Horseshoe kidney |
OMIM:311900 |
Schinzel-Giedion Syndrome |
|
Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, Macroglossia, Ca... |
ORPHA:798 |
12Q14 Microdeletion Syndrome |
|
Ectopic kidney, Osteopoikilosis, Renal hypoplasia, Horseshoe kidney, Failure to thrive |
ORPHA:94063 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:212138 |
Biotinidase Deficiency |
|
Skin rash, Recurrent skin infections, Seborrheic dermatitis, Hyperammonemia, Organic aciduria, Co... |
OMIM:253260 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Inguinal hernia, Hypospadias, Small for gestational age, Hyperammonemia, Umbilical hernia, 3-Meth... |
OMIM:614052 |
Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney |
OMIM:266810 |
Inhalational Botulism |
|
Urinary retention |
ORPHA:254504 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Increased bone mineral density, Splenomegaly, Thrombocytopenia, Os... |
OMIM:611490 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Lipodystrophy, Thrombocytopenia, Splenomeg... |
OMIM:617591 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Congenital diaphragmatic hernia, Hepatopulmonary fusion, Enlarged kidney, Paten... |
OMIM:618280 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
2P15P16.1 Microdeletion Syndrome |
|
Inguinal hernia, Multicystic kidney dysplasia, Camptodactyly of finger, Failure to thrive, Hydron... |
ORPHA:261349 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc... |
ORPHA:824 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Increased bone mineral density, Craniosynostosis, Splenomegaly, Anemi... |
OMIM:259700 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Urinary urgency, Pollakisuria, Lower limb hypertonia, Urinary incontinence |
ORPHA:447753 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Umbilical hernia, Ureteral triplication, Hydronephrosis |
OMIM:104350 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Acute Intermittent Porphyria |
|
Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Dysuria, Urinary incont... |
ORPHA:79276 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Hypercholesterolemia, Joint hyperflexibility |
ORPHA:2479 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Hypospadias, Renal agenesis, Pure red cell aplasia, Small for gestational... |
ORPHA:124 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Generalized muscular appearance from birth, Nephrolithiasis |
OMIM:608594 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration, Osteoporo... |
OMIM:235200 |
Vacterl Association With Hydrocephalus |
|
Radial club hand, Renal hypoplasia |
OMIM:276950 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Hydronephrosis, Dysuria, Joint hypermobility |
ORPHA:101000 |
Felty Syndrome |
|
Hepatomegaly, Recurrent urinary tract infections, Cellulitis, Splenomegaly, Osteolysis, Lymphaden... |
ORPHA:47612 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Decreased circulating cortisol level, Hydroureter, Distal urethral duplication, ... |
OMIM:146510 |
Fanconi Anemia, Complementation Group I |
|
Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney, Fused cervical vertebrae, Decrease... |
OMIM:609053 |
Amish Lethal Microcephaly |
|
Decreased skull ossification, Organic aciduria, Osteoporosis, Limitation of joint mobility |
ORPHA:99742 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Pollakisuria, Urinary retention, Skeletal muscle atrophy |
ORPHA:447760 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Ascites, Enlarged kidney, Cardiomegaly |
OMIM:261740 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Papillary renal cell carcinoma, Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy |
ORPHA:363618 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo... |
ORPHA:288 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Micropenis, Hydronephrosis, Joint hypermobility |
OMIM:617798 |
Neuhauser Syndrome |
|
Osteopenia, Hypercholesterolemia |
OMIM:249310 |
Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Hypospadias, Unilateral renal agenesis, Camptodactyly, Hydronephrosis |
OMIM:616737 |
Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Hydronephrosis, Congenital diaphragmatic hernia |
ORPHA:1780 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Camptodactyly of finger, Limitation of joint mobility, Horseshoe kidney, Hyd... |
ORPHA:99776 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Recurrent fractures, Tracheomalacia, Tracheobronchomalacia, H... |
ORPHA:140 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Weight loss, Renal tubular ... |
ORPHA:99885 |
Spinocerebellar Ataxia Type 42 |
|
Urinary urgency, Urinary incontinence |
ORPHA:458803 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Steatorrhea, Ascites, Anemia |
ORPHA:75233 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Enlarged polycystic ovaries, Abnormality of th... |
ORPHA:2869 |
Zimmermann-Laband Syndrome 1 |
|
Long penis, Nephrolithiasis |
OMIM:135500 |
Gitelman Syndrome |
|
Polyuria, Renal magnesium wasting, Rhabdomyolysis, Enuresis, Hypocalciuria, Nocturia, Renal potas... |
OMIM:263800 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Cholangitis, Retroperitoneal... |
ORPHA:449563 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Recurrent otitis media, Umbilical hernia, Renal hypoplasia, Absence of renal corticomedullary dif... |
OMIM:619758 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-reactive protein ... |
ORPHA:829 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231226 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Abnormality of the upper urinary tract, Joint stiffness, Failure to thrive, Hydronep... |
ORPHA:2995 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Hepatitis, Lymphadenopath... |
ORPHA:549 |
Braddock-Carey Syndrome 1 |
|
Enamel hypoplasia, Multicystic kidney dysplasia, Thrombocytopenia, Camptodactyly |
OMIM:619980 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Renal insufficiency, Chronic kidney disease, Hyperammonemia, Hypoalbuminemia, Hyper... |
ORPHA:1667 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Arthrogryposis multiplex congenita, Bilateral renal agenesis, Renal hypoplasia |
OMIM:616258 |
Spinocerebellar Ataxia 2 |
|
Distal amyotrophy, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:183090 |
Spinocerebellar Ataxia Type 10 |
|
Urinary urgency |
ORPHA:98761 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
Sickle Cell Disease |
|
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... |
OMIM:603903 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Joint stiffne... |
ORPHA:847 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... |
OMIM:301068 |
Fryns Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Vesicour... |
ORPHA:2059 |
Incontinentia Pigmenti |
|
Eosinophilia, Camptodactyly of finger, Abnormal dental enamel morphology, Osteolysis, Umbilical h... |
ORPHA:464 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Craniosynostosis, Vesicoureteral reflux, Failure to thrive, Abnormal bladder morpholo... |
ORPHA:453499 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... |
OMIM:614527 |
Pelvis-Shoulder Dysplasia |
|
Hydronephrosis, Camptodactyly of finger |
ORPHA:2839 |
Joubert Syndrome 2 |
|
Renal insufficiency, Failure to thrive, Renal cyst, Nephronophthisis |
OMIM:608091 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ... |
OMIM:233450 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Hypospadias, Small for gestational age, Ankle flexion contracture, Unilateral ... |
ORPHA:464311 |
Distal Deletion 10Q |
|
Scapular winging, Functional abnormality of the bladder, Horseshoe kidney, Enuresis, Facial diple... |
ORPHA:96148 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Urinary urgency, Distal amyotrophy, Peroneal muscle atrophy |
OMIM:270550 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine... |
OMIM:616878 |
Fatal Familial Insomnia |
|
Urinary retention |
OMIM:600072 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Cat Eye Syndrome |
|
Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Umbilical hernia, Hydronephrosis |
OMIM:115470 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... |
OMIM:601847 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r... |
OMIM:619522 |
8P Inverted Duplication/Deletion Syndrome |
|
Contractures of the large joints, Micropenis, Abnormality of the urinary system, Hydronephrosis |
ORPHA:96092 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Generalized muscular appearance from birth, Nephrolithiasis |
OMIM:269700 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased urinary urate, Hypouricemia |
ORPHA:760 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Vesicoureteral reflux, Renal atrophy, Hypospadias, Joint hypermobility |
OMIM:618659 |
Zygomycosis |
|
Renal insufficiency, Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Periton... |
ORPHA:73263 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Umbil... |
ORPHA:90674 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Cranial hyperostosis, Renal hypoplasia, Lipoma, Nephroblastoma |
OMIM:612918 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulati... |
OMIM:612852 |
Angiostrongyliasis |
|
Hypereosinophilia |
ORPHA:74 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
ORPHA:280365 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ketonuria, Lacticaciduria |
OMIM:619167 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Osteopenia, Inguinal hernia, Joint laxity, Morgagni diaphrag... |
OMIM:613177 |
Parkinson Disease, Late-Onset |
|
Urinary urgency |
OMIM:168600 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Glandular hypospadias |
ORPHA:1358 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Renal agenesis, Hypercalcemia, Small for gestational age, Splenomegaly, Elbow flexi... |
OMIM:618440 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Splenomegaly, Renal ... |
OMIM:312870 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Obesity, Enuresis nocturna, Truncal obesity, Failure to thriv... |
OMIM:615873 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Splenomegaly, Anemia, Hepatomegaly |
OMIM:618107 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... |
OMIM:610188 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Obesity, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis |
OMIM:618653 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Cranioectodermal Dysplasia 3 |
|
Joint laxity, Sagittal craniosynostosis, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:614099 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Enuresis, Facial hypotonia |
ORPHA:589821 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia, Steatorrhea, ... |
OMIM:235555 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the ureter, Renal hypoplasia/aplasia |
ORPHA:1770 |
Marburg Hemorrhagic Fever |
|
Renal insufficiency, Pericarditis, Maculopapular exanthema, Elevated circulating creatine kinase ... |
ORPHA:99826 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Megacystis, Hypoperistalsis |
ORPHA:2241 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Renal cyst, Elevated circulating ribitol concen... |
ORPHA:488618 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Osteopenia, Inguinal hernia, Renal insufficiency, Failure to thrive, Conjugated hyper... |
OMIM:619534 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Inguinal hernia, Heparan sulfate excretion in urine, Splenomegaly, Umbilical hernia... |
OMIM:252900 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... |
OMIM:607361 |
Polysyndactyly With Cardiac Malformation |
|
Hepatic cysts, Renal cyst |
OMIM:263630 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Obesity, Renal cyst |
OMIM:605231 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Nephrolithiasis, Abnormality of the urinary syst... |
ORPHA:353281 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Small for gestational age, Dilatation of the renal pelvis, Stage 5 c... |
ORPHA:2044 |
Botulism |
|
Urinary retention |
ORPHA:1267 |
Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly |
ORPHA:79292 |
Apert Syndrome |
|
Acne, Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal oss... |
OMIM:101200 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Failure to thrive, Multiple joint contractures, Hypospadias, Small for gestational age, Unilatera... |
ORPHA:464306 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ... |
OMIM:150550 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... |
OMIM:270400 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Decreased circulating cortisol level, Hypercalcemia, Renal sal... |
ORPHA:95409 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Urethral atresia, Hydronephrosis |
OMIM:271520 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma... |
ORPHA:818 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Renal insufficiency, Viral hepatitis, Proteinuria, Glomerulopathy, Splenomegaly, Me... |
ORPHA:91138 |
Perineural Cyst |
|
Recurrent urinary tract infections, Urinary bladder sphincter dysfunction, Distal lower limb musc... |
ORPHA:65250 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia |
OMIM:617914 |
Mungan Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:611376 |
Williams Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Renal insufficiency, Proteinuria, Urethr... |
ORPHA:904 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating acylcarnitine concentration, Ketonuria, Elevated circulating creatine kinase... |
ORPHA:480864 |
Au-Kline Syndrome |
|
Sagittal craniosynostosis, Craniosynostosis, Chronic kidney disease, Dilatation of the renal pelv... |
OMIM:616580 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Hemoly... |
ORPHA:79282 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis, Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Enuresis, Recurrent urinary tract infections, Flexion contracture, Hypospadias |
OMIM:619293 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Inguinal hernia, Renal insufficiency, Multicystic kidney dysplasia, Portal hyperten... |
ORPHA:1454 |
Campomelia, Cumming Type |
|
Hepatomegaly, Multicystic kidney dysplasia, Abnormally ossified vertebrae, Pancreatic cysts, Abno... |
ORPHA:1318 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Hypospadias, Unilateral renal agenesis, Congenital diaphragmatic hernia, Cranios... |
ORPHA:96121 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Inguinal hernia, Recurrent urinary tract infections, Perianal abscess, Urachus fistula, Panniculi... |
OMIM:612541 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... |
OMIM:301078 |
Multiple System Atrophy 1, Susceptibility To |
|
Urinary urgency, Skeletal muscle atrophy, Urinary incontinence |
OMIM:146500 |
Sepsis In Premature Infants |
|
Hepatomegaly, Small for gestational age, Elevated circulating C-reactive protein concentration, T... |
ORPHA:90051 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Elevated circulating alpha-fetoprotein concentration, Hypertrophy of the urinary bla... |
ORPHA:280633 |
Pseudo-Torch Syndrome 2 |
|
Abnormal renal corticomedullary differentiation |
OMIM:617397 |
Trisomy 18 |
|
Omphalocele, Camptodactyly of finger, Abnormality of the upper urinary tract, Congenital diaphrag... |
ORPHA:3380 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Micropenis |
OMIM:615994 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Atopic dermatitis, Failure to thrive, Hydron... |
OMIM:115150 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Hypospadias, Hypocalcemia, Hyperbilirubinemia, Micropeni... |
ORPHA:163979 |
Stromme Syndrome |
|
Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Inguinal hernia, Recurrent urinary tract infections, Recurrent pneumonia, Pyeloneph... |
ORPHA:90349 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hydronephrosis, Renal dysplasia, Joint laxity |
OMIM:300968 |
Foodborne Botulism |
|
Urinary retention |
ORPHA:228371 |
White-Kernohan Syndrome |
|
Joint laxity, Hydroureter, Obesity, Horseshoe kidney, Recurrent otitis media, Hydronephrosis |
OMIM:619426 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Ketonuria, Hyperammonemia, Weight loss, 3-Methylglutaric aciduria, Hyperuricemia |
ORPHA:20 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Abnormal dental enamel morphology... |
ORPHA:2750 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Hypospadias, Recurrent pneumonia, Male urethral meatus stenosis, Hydronephrosis,... |
ORPHA:464738 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:280000 |
Yellow Fever |
|
Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase concentrati... |
ORPHA:99829 |
Cystic Fibrosis |
|
Nephrolithiasis |
ORPHA:586 |
Monosomy 9P |
|
Ureteropelvic junction obstruction, Hypospadias, Congenital diaphragmatic hernia |
ORPHA:261112 |
Meckel Syndrome, Type 2 |
|
Omphalocele, Bile duct proliferation, Renal cyst |
OMIM:603194 |
Pulmonary Alveolar Microlithiasis |
|
Hematuria, Calcium nephrolithiasis |
ORPHA:60025 |
Machado-Joseph Disease |
|
Distal amyotrophy, Urinary bladder sphincter dysfunction |
OMIM:109150 |
Incontinentia Pigmenti |
|
Eosinophilia, Leukocytosis, Scarring |
OMIM:308300 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Oroticaciduria, Hepatitis, Hyperammonemia, Hyperornithinemia, Failure to thrive, Abnormal circula... |
ORPHA:415 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... |
ORPHA:158048 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Anisocytosis, Abnormal circulating porphyrin concentration, Scarring alopecia of scal... |
ORPHA:79277 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Ureteral duplication, Hepatomegaly, Failure to thrive, Cholangitis, Craniosynostosis,... |
OMIM:266920 |
Opitz Gbbb Syndrome |
|
Omphalocele, Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Tracheomalacia, Crani... |
ORPHA:2745 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:247262 |
Parkinson Disease 1, Autosomal Dominant |
|
Urinary urgency |
OMIM:168601 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Renal agenesis, Hypospadias, Umbilical hernia, Micropenis, Hydronephrosis |
OMIM:301040 |
Cousin Syndrome |
|
Humeroradial synostosis, Camptodactyly, Joint contracture of the hand, Wrist flexion contracture,... |
OMIM:260660 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h... |
OMIM:613027 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Craniofacioskeletal Syndrome |
|
Hydronephrosis, Hypospadias, Hypocalcemia |
OMIM:300712 |
Autoimmune Hepatitis |
|
Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis... |
ORPHA:2137 |
Cockayne Syndrome Type 3 |
|
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Flexion contract... |
ORPHA:90324 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Thrombo... |
OMIM:259720 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Obesity, Nephrotic syndrome, Hepatic fibrosis |
ORPHA:110 |
Secondary Syringomyelia |
|
Facial paralysis, Dysuria |
ORPHA:99857 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Glomerulopathy, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytop... |
ORPHA:906 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... |
OMIM:258040 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Renal cyst |
OMIM:611561 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kina... |
OMIM:613327 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Osteolysis, Cornea... |
OMIM:263700 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity |
OMIM:619351 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... |
OMIM:604292 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatomegaly |
ORPHA:85414 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Eosinophilia, Cachexia, Cardiomegaly, Splenomegaly, Hypoalbuminemia, Ascites |
ORPHA:75565 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Ste... |
OMIM:613812 |
3Mc Syndrome 1 |
|
Omphalocele, Radioulnar synostosis, Lambdoidal craniosynostosis, Coronal craniosynostosis, Hydron... |
OMIM:257920 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Craniosynostosis, Inguinal hernia, Renal cyst, Horseshoe kidney |
ORPHA:166035 |
Degcags Syndrome |
|
Osteopenia, Recurrent urinary tract infections, Hypospadias, Small for gestational age, Bilateral... |
OMIM:619488 |
Listeriosis |
|
Pericarditis, Stiff neck, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Endocardit... |
ORPHA:533 |
Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, R... |
OMIM:300842 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Renal hypoplasia, Persistenc... |
OMIM:105650 |
Adrenomyeloneuropathy |
|
Urinary incontinence, Urinary urgency, Urinary retention, Leg muscle stiffness, Urinary bladder s... |
ORPHA:139399 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Renal agenesis, Micropenis, Polycystic kidney dysplasia, Abnormal renal collecti... |
OMIM:134780 |
Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ... |
OMIM:249100 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Hypercalciuria, Renal cyst, Ob... |
ORPHA:369837 |
Okamoto Syndrome |
|
Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Urinary incontinence, Hydronephr... |
ORPHA:2729 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Hypospadias, Small for gestational age, Increased mean platelet volume, Splenomegal... |
OMIM:222470 |
Cushing Disease |
|
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... |
ORPHA:96253 |
Spinocerebellar Ataxia 1 |
|
Skeletal muscle atrophy, Distal amyotrophy, Urinary bladder sphincter dysfunction |
OMIM:164400 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Ureteropelvic junction obstruction, Vesicovaginal fistula, Neonatal hyperbilirubinemia |
OMIM:300896 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the... |
ORPHA:3339 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
Aspartylglucosaminuria |
|
Inguinal hernia, Aspartylglucosaminuria, Joint stiffness, Arthritis, Chronic otitis media, Umbili... |
ORPHA:93 |
Eec Syndrome |
|
Hypospadias, Abnormal dental enamel morphology, Renal hypoplasia/aplasia, Keratitis, Inflammatory... |
ORPHA:1896 |
Monosomy 22Q13.3 |
|
Recurrent skin infections, Obesity, Hydronephrosis, Vesicoureteral reflux, Umbilical hernia, Recu... |
ORPHA:48652 |
Isolated Biliary Atresia |
|
Hepatomegaly, Small for gestational age, Dark yellow urine, Conjugated hyperbilirubinemia, Spleno... |
ORPHA:30391 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Joint laxity, Homocystinuria |
OMIM:601552 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Hepatic bridging fibrosis, Hep... |
OMIM:618641 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis |
ORPHA:438213 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Abno... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Abno... |
ORPHA:353277 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Hypospadias, Ankle flexion contracture, Craniosynostosis, Long penis, Elbow fle... |
OMIM:268300 |
Addison Disease |
|
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Renal salt wasting, Decreased ... |
ORPHA:85138 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Renal cyst, Horseshoe kidney, Cystic liver disease, Aplasia of the bladder, H... |
OMIM:612284 |
Cornelia De Lange Syndrome 1 |
|
Inguinal hernia, Hypospadias, Proteinuria, Congenital diaphragmatic hernia, Ectopic kidney, Hiatu... |
OMIM:122470 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Generalized lipodys... |
OMIM:619183 |
Familial Tumoral Calcinosis |
|
Nephrocalcinosis, Splenomegaly, Hyperostosis, Hepatomegaly |
ORPHA:53715 |
Pelizaeus-Merzbacher Disease |
|
Urinary urgency |
OMIM:312080 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Failure to thrive in infancy |
OMIM:618829 |
Osteogenesis Imperfecta |
|
Hypercalciuria, Flexion contracture, Nephrolithiasis |
ORPHA:666 |
Tenorio Syndrome |
|
Macroglossia, Enuresis |
OMIM:616260 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormality of the ureter, Hypospadias, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:2311 |
Mosaic Trisomy 1 |
|
Omphalocele, Hepatic agenesis, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow fl... |
ORPHA:1692 |
Tarp Syndrome |
|
Failure to thrive, Hydronephrosis, Horseshoe kidney |
ORPHA:2886 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly |
ORPHA:163596 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Osteoporosis, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular v... |
OMIM:127550 |
Holoprosencephaly 3 |
|
Hydronephrosis |
OMIM:142945 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Hereditary Fructose Intolerance |
|
Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Recurrent fractures, Multiple prenatal fractures, Dentinogenesis imperfecta, Decrease... |
OMIM:610682 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Abnormal mesentery mo... |
ORPHA:2075 |
Fryns Syndrome |
|
Omphalocele, Ureteral duplication, Hypospadias, Renal agenesis, Large for gestational age, Renal ... |
OMIM:229850 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Inguinal hernia, Renal insufficiency, Cholangitis, Craniosynostosis, Splenomegaly, ... |
OMIM:613610 |
Gabriele-De Vries Syndrome |
|
Distal lower limb amyotrophy, Facial hypotonia, Distal arthrogryposis, Ureteropelvic junction obs... |
ORPHA:506358 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Cardiofaciocutaneous Syndrome |
|
Failure to thrive in infancy, Hydronephrosis |
ORPHA:1340 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Renal hypoplasia, Pelvic kidney, Microphallus, Vesicoureteral reflux, Failure to thrive |
OMIM:603467 |
Meckel Syndrome, Type 4 |
|
Bile duct proliferation, Renal cyst |
OMIM:611134 |
Trisomy 8P |
|
Multiple joint contractures, Fetal pyelectasis, Nephrocalcinosis, Hernia, Micropenis, Hydronephrosis |
ORPHA:264450 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalciuria, Nephrolithiasis |
ORPHA:652 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Small for gestational age, Renal cyst,... |
OMIM:257300 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint laxity, Recurrent skin infections, Scarring, Hiatus hernia, Generalized joint laxity, Nephr... |
OMIM:601776 |
Congenital Alveolar Capillary Dysplasia |
|
Hydronephrosis |
ORPHA:210122 |
Ileal Neuroendocrine Tumor |
|
Hydronephrosis, Weight loss |
ORPHA:100078 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Sinusitis, Recurrent pneumonia, Bronchiectasis, Recurrent oti... |
OMIM:251260 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Urinary incontinence, Elevated circu... |
OMIM:232300 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le... |
ORPHA:90033 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Inguinal hernia, Hypospadias, Unilateral renal agenesis, Flexion contracture, Camptodactyly, Hydr... |
ORPHA:487796 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint laxity, Recurrent urinary tract infections, Hypospadias, Small for gestational age, Tracheo... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Joint laxity, Recurrent urinary tract infections, Hypospadias, Small for gestational age, Tracheo... |
ORPHA:363958 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic derm... |
ORPHA:83617 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ... |
OMIM:129900 |
Friedreich Ataxia |
|
Hand muscle atrophy, Urinary bladder sphincter dysfunction |
ORPHA:95 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Elevated circulating creatine kinase co... |
OMIM:615287 |
Aspartylglucosaminuria |
|
Joint laxity, Aspartylglucosaminuria, Acne, Hernia, Pathologic fracture |
OMIM:208400 |
Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Ureteral duplication, Inguinal hernia, Hypoplasia of penis, Multicystic kidney dyspl... |
ORPHA:373 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Hydroureter, Abnormality of the kidney, Abnormality of... |
ORPHA:2636 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Dubowitz Syndrome |
|
Hypospadias, Eczema, Craniosynostosis, Joint hyperflexibility, Hydronephrosis |
ORPHA:235 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Small for gestational age, Portal hypertension, Conjugated hyperbilirubinemia, Sple... |
ORPHA:567983 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia |
OMIM:220500 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Inguinal hernia, Transient neutropenia, Large for gestational age, Renal cyst,... |
OMIM:617107 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Joint laxity, Sagittal craniosynostosis, Craniosynostosis, Lambdoidal craniosynostosi... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Joint laxity, Sagittal craniosynostosis, Craniosynostosis, Lambdoidal craniosynostosi... |
ORPHA:352665 |
Autosomal Recessive Robinow Syndrome |
|
Inguinal hernia, Hypoplasia of penis, Multicystic kidney dysplasia, Camptodactyly of finger, Chro... |
ORPHA:1507 |
Mesomelia-Synostoses Syndrome |
|
Carpometacarpal synostosis, Tarsometatarsal synostosis, Metacarpal synostosis, Hydronephrosis, Pa... |
OMIM:600383 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Osteopenia, Recurrent urinary tract infections, Hypertriglyc... |
ORPHA:3455 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Renal artery aneurysm, Elevated circulating C-reactive protein concen... |
OMIM:615688 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Scarring, Abnormal circulating porphyrin concentration, Scarring al... |
ORPHA:95159 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Craniosynostosis, Congenital diaphragmatic hernia, Obesity, Failure... |
ORPHA:261197 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Hiatus hernia, Renal hypoplasia/aplas... |
ORPHA:2538 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Multicystic kidney dysplasia, Small for gestational age, Webbed penis, ... |
ORPHA:97360 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly,... |
OMIM:619418 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Splenomegaly, Renal hypoplasia, Periportal fibrosis, ... |
OMIM:269860 |
Alagille Syndrome |
|
Nephrotic syndrome, Abnormality of the ureter, Renal hypoplasia/aplasia |
ORPHA:52 |
Atelosteogenesis Type I |
|
Abnormal ossification involving the femoral head and neck, Abnormal pancreatic duct morphology, M... |
ORPHA:1190 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive, Hypospadias |
ORPHA:2115 |
Digeorge Syndrome |
|
Renal dysplasia, Inguinal hernia, Renal insufficiency, Femoral hernia, Acne, Unilateral renal age... |
OMIM:188400 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Episcleritis, Inguinal hernia, Hydroureter, Camptodactyly of finger, Abnormal dental... |
ORPHA:2273 |
Chime Syndrome |
|
Hydronephrosis, Osteolysis, Abnormality of the kidney |
ORPHA:3474 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hip contracture, Hypospadias, Abnormality of the kidne... |
ORPHA:821 |
Tuberous Sclerosis 1 |
|
Dental enamel pits, Renal cyst, Shagreen patch, Renal cell carcinoma, Renal angiomyolipoma, Pulmo... |
OMIM:191100 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Pollakisuria, Urinary bladder sphincter dysfunction |
ORPHA:93256 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Inguinal hernia, Unilateral renal agenesis, Bronchiectasis, Pyelonephri... |
ORPHA:90348 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Multiple lipomas |
OMIM:181270 |
Kabuki Syndrome 1 |
|
Ureteropelvic junction obstruction, Micropenis, Crossed fused renal ectopia, Hydronephrosis |
OMIM:147920 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... |
ORPHA:573278 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys |
OMIM:620047 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... |
ORPHA:86843 |
Hereditary Late-Onset Parkinson Disease |
|
Spastic/hyperactive bladder, Hypomimic face |
ORPHA:411602 |
Campomelic Dysplasia |
|
Joint laxity, Poorly ossified cervical vertebrae, Absent sternal ossification, Hypospadias, Contr... |
OMIM:114290 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Hepatic h... |
OMIM:193300 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Hepatomegaly, Inguinal hernia, Failure to thrive, Hypospadias, Splenomegaly, Osteopor... |
ORPHA:955 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Obesity, Umbilical hernia, Nephrob... |
ORPHA:1001 |
Joubert Syndrome 14 |
|
Renal cyst |
OMIM:614424 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Urinary incontinence, Enuresis nocturna, Pollakisuria, Lower limb hypertonia, Foot dorsiflexor we... |
ORPHA:171629 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Pancreatic adenocarcinoma, Dorsocervical fat pad, Paradoxical i... |
ORPHA:99889 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:3404 |
Dextrocardia |
|
Abnormal renal morphology, Abnormality of the ureter |
ORPHA:1666 |
Pudendal Neuralgia |
|
Pollakisuria, Dysuria |
ORPHA:60039 |
Floating-Harbor Syndrome |
|
Joint laxity, Inguinal hernia, Ivory epiphyses of the distal phalanges of the hand, Hypospadias, ... |
OMIM:136140 |
Hennekam Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Ectopic kidney, Splenomegaly, Pulmonary lymphangiectas... |
ORPHA:2136 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem... |
OMIM:608885 |
Peutz-Jeghers Syndrome |
|
Abnormality of the ureter, Bladder polyp |
OMIM:175200 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Craniosynostosis, Renal cyst, Horseshoe kidney |
OMIM:250410 |
Eisenmenger Syndrome |
|
Hepatomegaly, Renal insufficiency, Brain abscess, Elevated circulating C-reactive protein concent... |
ORPHA:97214 |
Wolfram Syndrome |
|
Recurrent urinary tract infections, Dysuria, Myopathy, Abnormality of the urinary system, Nephrop... |
ORPHA:3463 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureterocele, Pancrea... |
ORPHA:261265 |
Joubert Syndrome 21 |
|
Splenomegaly, Hyperechogenic kidneys, Renal cyst |
OMIM:615636 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M... |
ORPHA:309854 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ... |
ORPHA:391665 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Renal cyst, Shagreen patch, Renal cell carcino... |
OMIM:613254 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Bifid ureter, Hydronephrosis, Joint hypermobility, Renal duplication |
OMIM:267750 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Hypoplasia of penis, Urethrovaginal fistula, Abnormal pelvis bone ossification, Rena... |
ORPHA:93271 |
Brucellosis |
|
Hepatomegaly, Liver abscess, Lung abscess, Glomerulonephritis, Elevated circulating C-reactive pr... |
ORPHA:1304 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Arachnoid Cyst |
|
Facial palsy, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incontin... |
ORPHA:2356 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Aciduria, Osteoporosis, 3-Methylglutaconic aciduria, Ethylmalonic aciduria, Tracheomalacia, Failu... |
OMIM:203700 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers, Limb muscle weakness, Facial ... |
ORPHA:254892 |
Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Myositis, Pericarditis, Abnormal dental enam... |
ORPHA:3310 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Abnormality of the lymphatic system, Lymphadenopathy, Hem... |
ORPHA:538 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Jacobsen Syndrome |
|
Inguinal hernia, Eczema, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:2308 |
Superficial Siderosis |
|
Functional abnormality of the bladder, Lower limb muscle weakness |
ORPHA:247245 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... |
OMIM:617666 |
Joubert Syndrome 1 |
|
Nephropathy, Hepatic fibrosis, Renal cyst |
OMIM:213300 |
Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Ren... |
OMIM:260920 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V... |
ORPHA:565612 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Increased bone mineral density, Proteinuria, Splenomegaly, Osteolysis... |
ORPHA:77261 |
Gaucher Disease |
|
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Proteinuria, Elevated cir... |
ORPHA:355 |
Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Renal hypoplasia, Keratoconjunctivitis, Arthritis, Keratoconju... |
ORPHA:2363 |
Viss Syndrome |
|
Inguinal hernia, Hypereosinophilia, Umbilical hernia, Failure to thrive, Contracture of the proxi... |
OMIM:619472 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Omphalocele, Renal hypoplasia, Renal cyst, Unicoronal synostosis |
OMIM:616300 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Autoimmu... |
ORPHA:77293 |
Cardiac Valvular Dysplasia 1 |
|
Urethral diverticulum, Inguinal hernia, Hydroureter, Hydronephrosis |
OMIM:212093 |
Isolated Posterior Meningocele |
|
Enuresis |
ORPHA:268810 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the ureter |
ORPHA:3253 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Joint stiff... |
ORPHA:1606 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Joint laxity, Eczema, Recurrent pneumonia, Hypocalcemia, Umbilical hernia, Hydronephrosis |
OMIM:620330 |
Arboleda-Tham Syndrome |
|
Recurrent urinary tract infections, Craniosynostosis, Recurrent otitis media, Conjunctivitis, Chr... |
OMIM:616268 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Hypocalcemic seizures, Osteopetr... |
OMIM:612301 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Multicystic kidney dysplasia |
ORPHA:3301 |
Rubinstein-Taybi Syndrome 1 |
|
Joint laxity, Hypospadias, Small for gestational age, Flexion contracture, Truncal obesity, Keloi... |
OMIM:180849 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Sagittal craniosynostosis, Nephrocalcinosis, A... |
ORPHA:79500 |
Scorpion Envenomation |
|
Acute pancreatitis, Increased circulating NT-proBNP concentration, Ketonuria, Myocarditis, Increa... |
ORPHA:466677 |
Pagod Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Renal hypoplasia/apla... |
ORPHA:991 |
Ellis Van Creveld Syndrome |
|
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Abnorm... |
ORPHA:289 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Urinary urgency, Recurrent urinary tract infections, Flexion contracture, Urinary retention |
ORPHA:99027 |
Coffin-Siris Syndrome 1 |
|
Joint laxity, Inguinal hernia, Hydroureter, Hypospadias, Congenital diaphragmatic hernia, Ectopic... |
OMIM:135900 |
Charge Syndrome |
|
Horseshoe kidney, Abnormality of bone mineral density, Vesicoureteral reflux, Micropenis, Hydrone... |
ORPHA:138 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Omphalocele, Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder,... |
OMIM:265380 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Functional abnormality of the bladder, Renal artery stenosis, Renovascular hypertension |
ORPHA:391487 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Renal hypoplasia/aplasia, Abnormal renal morphology, Bone cyst, Hydronephrosis, Joint ... |
ORPHA:363700 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Asplen... |
ORPHA:564 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal dysplasia, Renal cyst |
OMIM:617260 |
Parkinson Disease 14, Autosomal Recessive |
|
Nocturia, Hypomimic face |
OMIM:612953 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Limited elbow extension and supination, Inguinal hernia, Umbilical hernia, Micropenis, Hydronephr... |
OMIM:180700 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Hypoplasia of facial musculature, Ectopic kidney, V... |
OMIM:164210 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cardiomegaly, Renal cyst, Polycystic ovaries, Failure to thrive |
ORPHA:137675 |
Focal Dermal Hypoplasia |
|
Omphalocele, Ureteral duplication, Inguinal hernia, Joint laxity, Congenital diaphragmatic hernia... |
OMIM:305600 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... |
ORPHA:50918 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Foot joint contracture, Glomerulonephritis, Chronic kidn... |
ORPHA:79408 |
Acute Transverse Myelitis |
|
Urinary incontinence, Upper limb muscle weakness, Urinary retention, Urinary bladder sphincter dy... |
ORPHA:139417 |
Proteus Syndrome |
|
Thymus hyperplasia, Abnormal dental enamel morphology, Craniosynostosis, Cachexia, Neoplasm of th... |
ORPHA:744 |
Sacral Defect With Anterior Meningocele |
|
Neurogenic bladder, Urinary retention |
OMIM:600145 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:3015 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... |
ORPHA:892 |
Johanson-Blizzard Syndrome |
|
Joint laxity, Hypospadias, Small for gestational age, Increased VLDL cholesterol concentration, U... |
OMIM:243800 |
Peters-Plus Syndrome |
|
Joint laxity, Ureteral duplication, Hypospadias, Limited elbow movement, Craniosynostosis, Renal ... |
OMIM:261540 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Osteolysis, Acute lymphoblastic leukemia, Nephroblastoma, Ascites |
ORPHA:1052 |
Cutis Marmorata Telangiectatica Congenita |
|
Displacement of the urethral meatus, Multicystic kidney dysplasia, Ascites, Reduced bone mineral ... |
ORPHA:1556 |
Peters Plus Syndrome |
|
Ureteral duplication, Inguinal hernia, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasi... |
ORPHA:709 |
Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Multicystic kidney dysplasia, Failure to thrive, Craniofacial osteosclerosis, Sclero... |
OMIM:300373 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Ketonuria, Hypospadias, Small for gestational age, Hyperammonemia, Failure to th... |
OMIM:220111 |
Otopalatodigital Syndrome, Type Ii |
|
Omphalocele, Hypospadias, Elbow contracture, Sclerosis of skull base, Nonossified fifth metatarsa... |
OMIM:304120 |
Charge Syndrome |
|
Omphalocele, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Hypocalcemia, Umbilical hernia, ... |
OMIM:214800 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Macroglossia, Enuresis |
ORPHA:369950 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Vesicoureteral reflux, Annular pancreas, Hypospadias, Renal cyst |
OMIM:616975 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Hyperextensible thumb, Renal dysplasia, Joint laxity, Limitation of joint mobility, H... |
ORPHA:480880 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reactive protein conc... |
OMIM:619381 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Knee flexion contracture, Radioulnar synostosis, M... |
OMIM:606170 |
Hydrolethalus Syndrome 1 |
|
Omphalocele, Hypospadias, Hydronephrosis |
OMIM:236680 |
Steinert Myotonic Dystrophy |
|
Hypercholesterolemia, Cholelithiasis |
ORPHA:273 |
Trisomy 10P |
|
Absent gallbladder, Small for gestational age, Abnormality of the kidney, Multiple renal cysts, C... |
ORPHA:171929 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Hyperbilirubine... |
OMIM:613471 |
Cerebrocostomandibular Syndrome |
|
Calcaneal epiphyseal stippling, Ectopic kidney, Elbow flexion contracture, Horseshoe kidney, Rena... |
OMIM:117650 |
Spondylocarpotarsal Synostosis Syndrome |
|
Inguinal hernia, Enamel hypoplasia, Renal cyst |
OMIM:272460 |
Williams-Beuren Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Abnormal renal morphology, Urethral sten... |
OMIM:194050 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Right unicoro... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Decreased body weight, Hypospadias, Urinary incontinence, Abnormali... |
ORPHA:2152 |
Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Hypospadias, Small for gestational age, Congenital diaphragmatic he... |
ORPHA:1596 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Right unicoro... |
ORPHA:261552 |
Dermatomyositis |
|
Weight loss, Abnormal eosinophil morphology, Chondrocalcinosis, Cellulitis |
ORPHA:221 |
Congenital Tracheal Stenosis |
|
Abnormality of the ureter, Abnormality of the kidney |
ORPHA:141127 |
C Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Failure to thrive in infancy, Congenital diaphragmatic... |
ORPHA:1308 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Renal cyst |
ORPHA:495875 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:1393 |
Pmm2-Cdg |
|
Osteopenia, Multiple joint contractures, Lipodystrophy, Proteinuria, Reduced thyroxin-binding glo... |
ORPHA:79318 |
Branchiooculofacial Syndrome |
|
Hypospadias, Renal agenesis, Elbow flexion contracture, Renal cyst, Duplication of internal organ... |
OMIM:113620 |
Fraser Syndrome |
|
Omphalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, Ur... |
ORPHA:2052 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Abnormality of the kidney,... |
ORPHA:857 |
Townes-Brocks Syndrome 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Urethral valve, Small for gestati... |
OMIM:107480 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Enuresis |
ORPHA:293987 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hip contracture, Unilateral renal agenesis, Flexion contracture, Elbow flexion contracture, Knee ... |
OMIM:619503 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal insufficiency, Congenital d... |
ORPHA:199 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Inguinal hernia, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilater... |
OMIM:308205 |
Alström Syndrome |
|
Recurrent urinary tract infections, Recurrent cystitis, Detrusor sphincter dyssynergia, Dysuria, ... |
ORPHA:64 |
Pallister-Killian Syndrome |
|
Omphalocele, Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Flexion contracture, ... |
OMIM:601803 |