| Cystinuria |
|
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... |
OMIM:220100 |
| Dibasic Amino Aciduria I |
|
Ornithinuria, Hyperlysinuria, Dibasicaminoaciduria, Argininuria |
OMIM:222690 |
| Hyperprolinemia, Type Ii |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid... |
OMIM:239510 |
| Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria, Hyperprolinemia |
ORPHA:419 |
| Threoninemia |
|
Hyperthreoninuria, Hyperthreoninemia |
OMIM:273770 |
| Saccharopinuria |
|
Saccharopinuria, Histidinuria, Hyperlysinuria, Elevated urinary saccharopine level, Citrullinuria... |
OMIM:268700 |
| Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Hyperlysinuria |
OMIM:247950 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... |
ORPHA:617 |
| Iminoglycinuria |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria |
OMIM:242600 |
| Iminoglycinuria |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria |
ORPHA:42062 |
| Spastic Paraplegia 41, Autosomal Dominant |
|
Urinary urgency, Lower limb muscle weakness |
OMIM:613364 |
| Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Glycosuria, Renal tubular cyst, Elevated circulating creatinine concentration, ... |
OMIM:614817 |
| Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
| Enuresis, Nocturnal, 1 |
|
Enuresis nocturna |
OMIM:600631 |
| Enuresis, Nocturnal, 2 |
|
Enuresis nocturna |
OMIM:600808 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E... |
OMIM:174000 |
| Hypersulfaturia |
|
Increased urinary sulfate, Nephrolithiasis |
OMIM:620372 |
| Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
| Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
| Hyperglycinuria |
|
Calcium oxalate nephrolithiasis, Hyperglycinuria |
OMIM:138500 |
| Camptodactyly 1 |
|
Increased urinary taurine |
OMIM:114200 |
| Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
| Hydroxylysinuria |
|
Hyperlysinuria |
OMIM:236900 |
| Camptodactyly-Taurinuria Syndrome |
|
Aminoaciduria, Increased urinary taurine |
ORPHA:1325 |
| Indolylacroyl Glycinuria With Impaired Intellectual Development |
|
Hyperglycinuria |
OMIM:243050 |
| Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
| Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
| Phosphohydroxylysinuria |
|
Phosphohydroxylysinuria |
OMIM:615011 |
| Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Aminoaciduria, Episodic ammonia intoxication, Hyperammonemia, Hypoargininemia |
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 |
| Primary Hyperoxaluria Type 2 |
|
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... |
ORPHA:93599 |
| Gracile Syndrome |
|
Aminoaciduria, Increased circulating iron concentration, Increased serum pyruvate, Increased circ... |
OMIM:603358 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria |
ORPHA:2278 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... |
OMIM:310468 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
| Sucrase-Isomaltase Deficiency, Congenital |
|
Nephrolithiasis |
OMIM:222900 |
| 5-Oxoprolinase Deficiency |
|
Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine, Prolinuria |
OMIM:260005 |
| Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
2-hydroxyadipic aciduria, Alpha-aminoadipic aciduria |
OMIM:204750 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Hydronephrosis, Duplicated collecting system |
OMIM:163850 |
| Homocarnosinosis |
|
Carnosinuria |
OMIM:236130 |
| Cystathioninuria |
|
Cystathioninuria, Nephrolithiasis |
ORPHA:212 |
| Hydroxykynureninuria |
|
Elevated urinary 3-hydroxykynurenine level, Elevated urinary xanthurenic acid level |
OMIM:236800 |
| Hyperlysinuria With Hyperammonemia |
|
Hyperlysinuria, Hyperlysinemia, Dibasicaminoaciduria, Hyperammonemia |
OMIM:238750 |
| Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Positive ferric chloride test, Elevated urinary formiminoglutamic acid level |
OMIM:229100 |
| Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity |
|
Homocystinuria, Hyperhomocystinemia |
OMIM:236250 |
| Hyperprolinemia, Type I |
|
Hyperprolinemia, Hyperglycinuria, Prolinuria, Hydroxyprolinuria |
OMIM:239500 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... |
OMIM:614723 |
| Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... |
OMIM:161900 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... |
ORPHA:976 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:614650 |
| Autosomal Dominant Spastic Paraplegia Type 4 |
|
Distal amyotrophy, Leg muscle stiffness, Lower limb muscle weakness, Urinary bladder sphincter dy... |
ORPHA:100985 |
| Galactosemia Iii |
|
Aminoaciduria, Galactosuria, Hypergalactosemia, Failure to thrive |
OMIM:230350 |
| Valinemia |
|
Hypervalinemia, Valinuria |
OMIM:277100 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium... |
ORPHA:567544 |
| Argininemia |
|
Diaminoaciduria, Hyperammonemia |
ORPHA:90 |
| Stimmler Syndrome |
|
Aminoaciduria |
ORPHA:3199 |
| Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... |
OMIM:143400 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease... |
ORPHA:228302 |
| Medullary cystic kidney disease 2 |
|
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Hyperuricem... |
OMIM:603860 |
| Medullary Sponge Kidney |
|
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis |
ORPHA:1309 |
| 3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria |
OMIM:236795 |
| Autosomal Recessive Spastic Paraplegia Type 27 |
|
Spastic/hyperactive bladder |
ORPHA:101007 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria |
OMIM:204730 |
| Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... |
OMIM:602088 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria |
ORPHA:417 |
| Dent Disease 2 |
|
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... |
OMIM:300555 |
| Saccharopinuria |
|
Hyperlysinuria, Hypercystinemia, Hyperammonemia, Elevated plasma citrulline, Cystinuria, Hyperlys... |
ORPHA:3124 |
| Spastic Paraplegia 31, Autosomal Dominant |
|
Distal amyotrophy, Skeletal muscle atrophy, Urinary urgency, Lower limb muscle weakness |
OMIM:610250 |
| Autosomal Recessive Spastic Paraplegia Type 76 |
|
Functional abnormality of the bladder, Lower limb muscle weakness, Skeletal muscle atrophy |
ORPHA:488594 |
| Spastic Paraplegia 83, Autosomal Recessive |
|
Urinary urgency |
OMIM:619027 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Generalized aminoaciduria, Renal tubular dysfunction |
OMIM:606528 |
| Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Increased level of L-pyroglutamic acid in urine |
OMIM:231900 |
| Hartnup Disorder |
|
Elevated urinary indoleacetic acid level, Neutral hyperaminoaciduria |
OMIM:234500 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... |
OMIM:614376 |
| Primary Hyperoxaluria Type 3 |
|
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... |
ORPHA:93600 |
| Alpha-Methylacetoacetic Aciduria |
|
Elevated urinary 2-methyl-3-hydroxybutyric acid level |
OMIM:203750 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Nephrolithiasis |
OMIM:301060 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... |
OMIM:610805 |
| Cerebral Creatine Deficiency Syndrome 3 |
|
Organic aciduria |
OMIM:612718 |
| Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss |
|
Renal tubular acidosis, Nephrolithiasis |
OMIM:267300 |
| Spastic Paraplegia 72A, Autosomal Dominant |
|
Urinary bladder sphincter dysfunction |
OMIM:615625 |
| Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect |
|
Hyperhomocystinemia, Methylmalonic aciduria, Methylmalonic acidemia |
OMIM:613646 |
| Galactose Epimerase Deficiency |
|
Aminoaciduria |
ORPHA:79238 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria |
OMIM:615158 |
| Urofacial Syndrome 2 |
|
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... |
OMIM:615112 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Rickets, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-... |
OMIM:615605 |
| Xanthinuria, Type Ii |
|
Increased urinary hypoxanthine level, Xanthinuria, Renal insufficiency, Nephrolithiasis |
OMIM:603592 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... |
ORPHA:2838 |
| Nephronophthisis 18 |
|
Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Tubuloi... |
OMIM:615862 |
| Hypertryptophanemia |
|
Hypertryptophanemia, Camptodactyly of finger, Limited elbow extension, Generalized joint hypermob... |
OMIM:600627 |
| Autosomal Spastic Paraplegia Type 72 |
|
Urinary bladder sphincter dysfunction |
ORPHA:401849 |
| Tyrosinemia Type 1 |
|
Generalized aminoaciduria |
ORPHA:882 |
| Hypercalciuria, Absorptive, 2 |
|
Calcium oxalate nephrolithiasis, Hypercalciuria |
OMIM:143870 |
| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... |
OMIM:617610 |
| Muscular Dystrophy, Cardiac Type |
|
Carnosinuria, Elevated circulating creatine kinase concentration |
OMIM:309930 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thromboc... |
OMIM:615285 |
| Hypotonia-Cystinuria Syndrome |
|
Cystinuria, Nephrolithiasis |
ORPHA:163690 |
| Hypouricemia, Renal, 1 |
|
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulating creatinine ... |
OMIM:220150 |
| Dimethylglycine Dehydrogenase Deficiency |
|
Elevated circulating N,N-dimethylglycine concentration, Elevated circulating creatine kinase conc... |
OMIM:605850 |
| Spastic Paraplegia 13, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf... |
OMIM:605280 |
| Methionine Malabsorption Syndrome |
|
Aminoaciduria, Positive ferric chloride test |
OMIM:250900 |
| Senior-Loken Syndrome 9 |
|
Osteopenia, Nephronophthisis, Obesity, Stage 5 chronic kidney disease, Tubulointerstitial nephritis |
OMIM:616629 |
| Vesicoureteral Reflux 3 |
|
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... |
OMIM:613674 |
| Nephrolithiasis, Calcium Oxalate, 1 |
|
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... |
OMIM:167030 |
| Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis |
OMIM:620374 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Megacystis, Recurrent urinary tract infections, Nephrolithiasis, Hypoperistalsis, Fetal pyelectasis |
OMIM:619365 |
| C3 Glomerulopathy |
|
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... |
ORPHA:329918 |
| Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hyperammonemia |
ORPHA:664 |
| Renal Hypodysplasia/Aplasia 3 |
|
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... |
OMIM:617805 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Hydroureter, Nephrolithiasis |
OMIM:617219 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... |
OMIM:601331 |
| Idiopathic Hypercalciuria |
|
Calcium oxalate nephrolithiasis, Renal calcium wasting, Hypercalciuria |
ORPHA:2197 |
| Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria |
ORPHA:33574 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... |
ORPHA:79233 |
| Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Renal hypoplasia, Failure to thrive, 3-Methylglutaconic aciduria, Lacticaciduria, ... |
OMIM:604273 |
| Phenylketonuria |
|
Osteopenia, Phenylalaninuria, Hyperphenylalaninemia, Eczematoid dermatitis |
ORPHA:716 |
| Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Nephropathy, Hematuria, Nephrolithiasis |
ORPHA:2196 |
| Spastic Paraplegia 19, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf... |
OMIM:607152 |
| Lysinuric Protein Intolerance |
|
Increased LDL cholesterol concentration, Hyperglycinemia, Glomerulonephritis, Tubulointerstitial ... |
ORPHA:470 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Hyperglycinemia, Hyperamylasemia, Renal insufficiency, Elevated circulating creati... |
OMIM:619386 |
| Vesicoureteral Reflux 8 |
|
Duplicated collecting system, Vesicoureteral reflux, Recurrent urinary tract infections |
OMIM:615963 |
| Spastic Paraplegia 12, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf... |
OMIM:604805 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Aminoaciduria, Nephrocalcinosis, Rickets, Glycosuria, Large for gestational age, Hy... |
OMIM:616026 |
| Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria |
OMIM:143880 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic aciduria, Failure to thrive, Stage 5 chronic kidney disease, Hyperglycinemia, Hyper... |
OMIM:251000 |
| Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Hypoplasia of penis, Hypospadias, Nephrolithiasis |
ORPHA:1816 |
| Dent Disease 1 |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... |
OMIM:300009 |
| Dent Disease |
|
Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossif... |
ORPHA:1652 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria |
OMIM:613944 |
| Hyperlysinemia, Type I |
|
Hypoornithinemia, Hyperlysinuria, Cystinuria, Hyperlysinemia, Ornithinuria, Argininuria, Homocitr... |
OMIM:238700 |
| Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricosuria, Uric a... |
ORPHA:411536 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Abnormal urinary electrolyte concentration, Elevated circulating creatinine concentr... |
ORPHA:85450 |
| 2p15-16.1 microdeletion syndrome |
|
Hydronephrosis, Camptodactyly of finger |
DECIPHER:70 |
| Argininosuccinic Aciduria |
|
Aminoaciduria, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Hypoargininemia |
ORPHA:23 |
| Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Abnormality of the ureter |
ORPHA:1450 |
| 2P21 Microdeletion Syndrome |
|
Cystinuria, Nephrolithiasis |
ORPHA:163693 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d... |
OMIM:616733 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Proximal tubulopathy, Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria |
ORPHA:833 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... |
OMIM:618913 |
| Glutathione Synthetase Deficiency |
|
Increased level of L-pyroglutamic acid in urine |
OMIM:266130 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Nephropathy, Elevated circulating cre... |
OMIM:617056 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid... |
ORPHA:567548 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Rickets, Glycosuria, Osteomalacia, Low-molecular-weight proteinuria, Renal insuffi... |
OMIM:134600 |
| Hyperuricemia, Hprt-Related |
|
Hyperuricosuria, Renal insufficiency, Nephrolithiasis |
OMIM:300323 |
| Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Generalized aminoaciduria, Osteopenia, Proximal tubulopathy, Rickets, Gl... |
OMIM:613388 |
| Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Increased urine alpha-ketoglutarate concentration, Elevated urine N-acetylaspartic acid level, In... |
OMIM:618384 |
| Hyperparathyroidism 4 |
|
Nephrolithiasis |
OMIM:617343 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Arthrogryposis multiplex cong... |
OMIM:613404 |
| Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... |
OMIM:619468 |
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Homocystinuria, Methylmalonic aciduria, Failure to thrive, Hyperhomocystinemia, Methylmalonic aci... |
OMIM:309541 |
| Galactosemia I |
|
Increased level of galactitol in red blood cells, Aminoaciduria, Galactosuria, Failure to thrive,... |
OMIM:230400 |
| Primary Hyperoxaluria Type 1 |
|
Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r... |
ORPHA:93598 |
| Hyperoxaluria, Primary, Type Ii |
|
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis |
OMIM:260000 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... |
OMIM:618270 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hepatic bridging fibrosis, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedul... |
OMIM:619902 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Decreased plasma free carnitin... |
ORPHA:157 |
| Rudiger Syndrome |
|
Micropenis, Flexion contracture, Ureterovesical stenosis |
OMIM:268650 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Dicarboxylic aciduria, Decreas... |
ORPHA:228308 |
| Renal Tubular Acidosis, Distal, 1 |
|
Nephrocalcinosis, Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentratio... |
OMIM:179800 |
| Polycystic Kidney Disease 7 |
|
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... |
OMIM:620056 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Hydronephrosis, Abnormality of the urinary system |
ORPHA:2669 |
| Birk-Landau-Perez Syndrome |
|
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Failure to thrive in in... |
OMIM:617595 |
| Pauci-Immune Glomerulonephritis |
|
Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul... |
ORPHA:93126 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... |
OMIM:613092 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, IgA depos... |
OMIM:616730 |
| Hinman Syndrome |
|
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... |
ORPHA:84085 |
| Glycine Encephalopathy 1 |
|
Hyperglycinuria, Hyperglycinemia |
OMIM:605899 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Osteopenia, Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medulla... |
OMIM:611555 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Hypercalciuria, Hyperphosphaturia, Nephrolithiasis |
OMIM:612286 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Nephrolithiasis |
ORPHA:1837 |
| Immunodeficiency, Common Variable, 6 |
|
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... |
OMIM:613496 |
| Spastic Paraplegia 36, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Lower limb muscle weakness |
OMIM:613096 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Tubulointerstitial nephritis, Hyperalaninemia, Failure to thrive |
OMIM:614582 |
| Spastic Paraplegia 37, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency |
OMIM:611945 |
| Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia, Lacticaciduria, Alaninuria, Hyperg... |
OMIM:616299 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis |
OMIM:612287 |
| Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis |
OMIM:611498 |
| Autosomal Dominant Spastic Paraplegia Type 13 |
|
Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf... |
ORPHA:100994 |
| Cystinuria |
|
Hematuria, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Increased circulating very long-chain fatty acid concentration, Epiphyseal stipplin... |
OMIM:614859 |
| Hereditary Xanthinuria |
|
Hypouricemia, Decreased urinary urate, Acute kidney injury, Rheumatoid arthritis, Recurrent urina... |
ORPHA:3467 |
| Sarcosinemia |
|
Hypersarcosinuria, Hypersarcosinemia |
ORPHA:3129 |
| Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Urinary urgency |
OMIM:618878 |
| Hypouricemia, Renal, 2 |
|
Nephrolithiasis |
OMIM:612076 |
| Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
| Urofacial Syndrome 1 |
|
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... |
OMIM:236730 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Aminoaciduria, Elevated circulating creatine kinase concentration |
OMIM:609560 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Xanthinuria, Type I |
|
Pyelonephritis, Xanthine nephrolithiasis, Myopathy, Hydronephrosis, Xanthinuria |
OMIM:278300 |
| Familial Expansile Osteolysis |
|
Pathologic fracture, Hydroxyprolinuria, Thin bony cortex, Osteolysis |
OMIM:174810 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidn... |
OMIM:603278 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Ketonuria, Beta 2-microglobulinuria, Glycosuria, Failure... |
OMIM:227810 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti... |
ORPHA:449395 |
| Hereditary Orotic Aciduria |
|
Aminoaciduria, Abnormality of the ureter, Oroticaciduria, Orotic acid crystalluria |
ORPHA:30 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Splenomegaly, Inc... |
OMIM:619868 |
| Phenylketonuria |
|
Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid in urine, Ec... |
OMIM:261600 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Arthrogryposis multiplex cong... |
OMIM:208085 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria |
OMIM:161950 |
| 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, Proteinuria, Sagittal craniosynostosis, Tubulointerstitial nephritis |
OMIM:616901 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Cachexia, Methylmalonic aciduria, Elevated circulating creatine kinase concentration |
ORPHA:1933 |
| Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... |
OMIM:616002 |
| Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
| Spastic Paraplegia 8, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf... |
OMIM:603563 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf... |
OMIM:600363 |
| Spastic Paraplegia 3, Autosomal Dominant |
|
Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Distal lower limb amyotrophy, ... |
OMIM:182600 |
| Intellectual Developmental Disorder, X-Linked 90 |
|
Enuresis |
OMIM:300850 |
| Immunoneurologic Disorder, X-Linked |
|
Functional abnormality of the bladder |
OMIM:300076 |
| Nephronophthisis 20 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... |
OMIM:617271 |
| X-Linked Immunoneurologic Disorder |
|
Functional abnormality of the bladder, Myopathy |
ORPHA:2571 |
| Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... |
ORPHA:94088 |
| Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... |
ORPHA:93101 |
| Glutathionuria |
|
Urinary incontinence, Glutathionuria |
OMIM:231950 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Failure to thrive, Ascites, Hypocholesterolemia, Splenomegaly, Lipodystrophy, He... |
OMIM:608776 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Gout, Hyperuri... |
OMIM:162000 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney dysplasia, Ren... |
OMIM:145001 |
| Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... |
ORPHA:2260 |
| Fanconi-Bickel Syndrome |
|
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Osteopenia, Rickets, Glycosuria, Failur... |
ORPHA:2088 |
| Glycogen Storage Disease Vi |
|
Failure to thrive in infancy, Hyperlipidemia, Increased hepatic glycogen content, Hypercholestero... |
OMIM:232700 |
| Renal Tubular Acidosis, Proximal |
|
Rickets, Osteomalacia, Elevated circulating creatinine concentration, Hypercalciuria, Proximal re... |
OMIM:179830 |
| Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Ab... |
OMIM:123550 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine, Elev... |
OMIM:271980 |
| Flotch Syndrome |
|
Nephrolithiasis |
ORPHA:2045 |
| Tyrosinemia, Type Ii |
|
4-Hydroxyphenylpyruvic aciduria, Elevated urine N-acetyltyrosine level, Hypertyrosinemia |
OMIM:276600 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Failure to thrive in infancy, Organic aciduria, Hyperammonemia, Abnormal circulating leucine conc... |
ORPHA:6 |
| Sebocystomatosis |
|
Nephrolithiasis |
ORPHA:841 |
| Cystinosis |
|
Nephropathy, Aminoaciduria, Rickets, Failure to thrive, Renal insufficiency, Renal tubular dysfun... |
ORPHA:213 |
| Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness |
|
Hydronephrosis, Hydroureter |
OMIM:264140 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Homocystinuria, Methylmalonic aciduria, Failure to thrive, Hypomethioninemia, Hyperhomocystinemia... |
OMIM:236270 |
| Nephronophthisis 16 |
|
Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi... |
OMIM:615382 |
| Histidinuria Due To A Renal Tubular Defect |
|
Histidinuria, Impaired histidine renal tubular absorption |
OMIM:235830 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Red... |
OMIM:612526 |
| Galloway-Mowat Syndrome 7 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... |
OMIM:618348 |
| Spastic Paraplegia, Ataxia, And Impaired Intellectual Development |
|
Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf... |
OMIM:607565 |
| Myasthenic Syndrome, Congenital, 22 |
|
Cystinuria |
OMIM:616224 |
| Macdermot-Winter Syndrome |
|
Hydronephrosis, Camptodactyly of finger |
OMIM:247990 |
| Dermotrichic Syndrome |
|
Aminoaciduria |
ORPHA:99688 |
| Histidinuria-Renal Tubular Defect Syndrome |
|
Histidinuria, Impaired histidine renal tubular absorption |
ORPHA:2158 |
| Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Hyperprolinemia, Hyperalaninemia, Lacticaciduria |
ORPHA:79246 |
| Spastic Paraplegia 89, Autosomal Recessive |
|
Functional abnormality of the bladder |
OMIM:620379 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Rickets, Failure to thrive, Osteomalacia, ... |
ORPHA:18 |
| Autosomal Dominant Spastic Paraplegia Type 73 |
|
Urinary incontinence, Distal lower limb amyotrophy, Urinary urgency, Distal lower limb muscle wea... |
ORPHA:444099 |
| Preeclampsia |
|
Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Renal... |
ORPHA:275555 |
| Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
| Renal Dysplasia |
|
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
| X-Linked Intellectual Disability, Schimke Type |
|
Ankle flexion contracture, Failure to thrive in infancy, Elbow flexion contracture, Vesicouretera... |
ORPHA:85285 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co... |
ORPHA:3337 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Cortical sclerosis, Stage 3 chronic kidney disease, Elevated circulating creatinine concentration... |
OMIM:620366 |
| Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Hyperbilirubinemia, Splenic cyst, Abscess, Ovarian... |
ORPHA:400 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
| Hyperoxaluria, Primary, Type Iii |
|
Calcium oxalate nephrolithiasis, Hyperoxaluria |
OMIM:613616 |
| Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria, Decreased serum creatinine |
ORPHA:54057 |
| Spastic Paraplegia 10, Autosomal Dominant |
|
Upper limb muscle weakness, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Ur... |
OMIM:604187 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinop... |
OMIM:226990 |
| Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Ragged-red muscle fibers, Nephrolithiasis, Cystinuria, Facial palsy |
OMIM:606407 |
| Galactokinase Deficiency |
|
Failure to thrive, Hypergalactosemia, Hypercholesterolemia, Increased level of galactitol in plas... |
ORPHA:79237 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatosplenomegaly, Increased LDL cholesterol concentration, Splenomeg... |
OMIM:616828 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Lower limb amyotrophy, Lower limb muscle weakness, Urinary bladder sphincter dysfunction |
OMIM:610357 |
| Gyrate Atrophy Of Choroid And Retina |
|
Aminoaciduria, Hyperornithinemia |
ORPHA:414 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Chronic kidney disease, Failure to thrive in infancy, Decreased glomerular filtration rate, Prote... |
ORPHA:488627 |
| Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile |
ORPHA:391417 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... |
OMIM:612925 |
| Severe Canavan Disease |
|
Elevated urine N-acetylaspartic acid level |
ORPHA:314911 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Hepatitis, Renal insufficiency, Skin rash, Interstitial pneumonitis, Infectious encephalitis, Pus... |
ORPHA:139402 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Renal insufficiency, Skin rash, Hematuria, Proteinuria, Glomerulopathy, Weight loss, Increased in... |
ORPHA:183 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612926 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Scleritis, Weight loss, Elevated circulating C-reactive protein concentration, Tubulointerstitial... |
ORPHA:91500 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Nephrolithiasis, Generalized ... |
ORPHA:352447 |
| Sulfite Oxidase Deficiency, Isolated |
|
Eczematoid dermatitis, Sulfocysteinuria, Decreased urinary sulfate, Elevated circulating creatine... |
OMIM:272300 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect... |
OMIM:248190 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Decreased glomerular filtration rate, Nephrocalcinosis, Hypercalciuria, Nephrolithiasis |
OMIM:601198 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612924 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... |
OMIM:619802 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephritis, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Foll... |
OMIM:603909 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Hyperphosphatemia, Hydroxyprolinuria, Failure to thrive, Increased bone mineral densi... |
OMIM:239000 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Lead Poisoning |
|
Chronic kidney disease, Cranial hyperostosis, Increased LDL cholesterol concentration, Skin rash,... |
ORPHA:330015 |
| Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia |
OMIM:609886 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron... |
OMIM:191800 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... |
ORPHA:37042 |
| Autosomal Dominant Spastic Paraplegia Type 41 |
|
Lower limb amyotrophy, Urinary urgency, Hand muscle weakness |
ORPHA:320355 |
| RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Multiple renal cysts |
DECIPHER:47 |
| Nephronophthisis 13 |
|
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... |
OMIM:614377 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hyperammonemia, Hyperargininemia, Pancreatitis, Hypertriglyceridemia, Argininosuccinic aciduria, ... |
OMIM:603471 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Nephrolithiasis |
OMIM:620023 |
| Leber Congenital Amaurosis 1 |
|
Hyperthreoninuria, Hyperthreoninemia |
OMIM:204000 |
| Spastic Paraplegia 16, X-Linked |
|
Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Facial hypotonia, Lower limb a... |
OMIM:300266 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... |
OMIM:104200 |
| Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Acute kidney injury, Renal insufficiency, Hyperuricosuria, Uric acid nephrolithiasis, Crystalluria |
ORPHA:411543 |
| Hyperprolinemia Type 2 |
|
Increased urine alpha-ketoglutarate concentration, Prolinuria, Hydroxyprolinuria, Hyperglycinemia... |
ORPHA:79101 |
| Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
| Senior-Loken Syndrome 1 |
|
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... |
OMIM:266900 |
| Senior-Loken Syndrome |
|
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Abnormality of bone min... |
ORPHA:3156 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria |
OMIM:250620 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... |
OMIM:613095 |
| Tryptophanuria With Dwarfism |
|
Tryptophanuria |
OMIM:276100 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Hypercholesterolemia |
OMIM:608320 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Urinary urgency |
OMIM:605909 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Inguinal hernia, Camptodactyly, Sagittal craniosynostosis, Abnormality of the kidney, Tubulointer... |
ORPHA:459061 |
| Histidinemia |
|
Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia |
OMIM:235800 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopath... |
ORPHA:411634 |
| Aapoaiv Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis, Elevated circulating creatinine concentration, Hyperli... |
ORPHA:439232 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure... |
OMIM:300539 |
| Spinocerebellar Ataxia Type 25 |
|
Urinary urgency, Facial myokymia |
ORPHA:101111 |
| Bor Syndrome |
|
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... |
ORPHA:107 |
| Papillorenal Syndrome |
|
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... |
OMIM:120330 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Aminoaciduria |
OMIM:273400 |
| Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Calcium oxalate nephrolithiasis |
OMIM:248000 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Elevated circulating creatinine concentration, Pancytopenia, Hepatic steatosis... |
OMIM:617872 |
| Vesicoureteral Reflux, X-Linked |
|
Vesicoureteral reflux |
OMIM:314550 |
| Vesicoureteral Reflux 1 |
|
Vesicoureteral reflux |
OMIM:193000 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Hypomagnesemia, Pancytopenia, ... |
OMIM:613845 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... |
OMIM:263200 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... |
OMIM:212050 |
| Multiple Sclerosis, Susceptibility To |
|
Urinary incontinence, Urinary hesitancy |
OMIM:126200 |
| Lymphedema-Distichiasis Syndrome |
|
Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst... |
ORPHA:33001 |
| Bruck Syndrome 2 |
|
Osteopenia, Hydroxyprolinuria, Elbow flexion contracture, Increased susceptibility to fractures, ... |
OMIM:609220 |
| Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... |
OMIM:601859 |
| Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Failure to thrive, Hyperornithinemia, Hyperammonemia, Acute hepatitis, Homocitrullinuria |
OMIM:238970 |
| Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Hepatomegaly, Macrovesicular hepatic steatosis, Polycystic kid... |
OMIM:608836 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Obesity, Proteinuria, Episodic hemolytic anemia, Increased blo... |
ORPHA:251004 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Xanthelasma, Hyperlipid... |
OMIM:232220 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... |
OMIM:300554 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nephrolithiasis |
OMIM:619827 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria |
OMIM:603585 |
| Renal Glucosuria |
|
Enuresis nocturna, Glycosuria, Polyuria |
OMIM:233100 |
| Nephronophthisis 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... |
OMIM:604387 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Cinca Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Elevated circulating C-reactive ... |
OMIM:607115 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Aminoaciduria, Methylmalonic aciduria, Failure to thrive, Elevated circulating creatine kinase co... |
OMIM:612073 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Failure to thrive, Low-molecular-wei... |
ORPHA:47159 |
| Netherton Syndrome |
|
Aminoaciduria, Eczematoid dermatitis, Skin rash, Hydronephrosis, Erythroderma, Ectopic kidney |
ORPHA:634 |
| Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Failure to thrive, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Polyuria, ... |
OMIM:239200 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Rickets, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Hyperpho... |
ORPHA:411629 |
| Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... |
OMIM:609583 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elev... |
ORPHA:340 |
| Coach Syndrome 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi... |
OMIM:619113 |
| Histidinemia |
|
Histidinuria, Hyperhistidinemia |
ORPHA:2157 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Organic aciduria, Elevated circulating creatine kinase concentration |
OMIM:255100 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria |
OMIM:249270 |
| Glutaric Acidemia Type 3 |
|
Glutaric aciduria, Elevated circulating glutaric acid concentration, Failure to thrive, Ketonuria... |
ORPHA:35706 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Small Cell Carcinoma Of The Bladder |
|
Hematuria, Dysuria, Recurrent urinary tract infections |
ORPHA:284400 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Osteopenia, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hypocalcemi... |
OMIM:617913 |
| Meckel Syndrome, Type 8 |
|
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys |
OMIM:613885 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Umbilical hernia, Large for gestational age, Inguinal hernia, Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Sjogren Syndrome |
|
Tubulointerstitial nephritis, Rheumatoid arthritis, Keratoconjunctivitis sicca |
OMIM:270150 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Acute kidney injury, Rheumatoid arthritis, Elevated circulating creatinine concentration, Unilate... |
ORPHA:49041 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Hypoalbuminemia, Leuk... |
OMIM:617303 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Parathormone-independent increased renal tubular calcium reabsorption, Hypocalciuria, Nephrolithi... |
OMIM:145981 |
| Spastic Paraplegia 4, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf... |
OMIM:182601 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, Ketonuria, Failure to thrive, Umbilical hernia, Large for gestational age |
OMIM:614520 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Hyperc... |
OMIM:615703 |
| Nephronophthisis 15 |
|
Obesity, Nephronophthisis |
OMIM:614845 |
| Stiff Skin Syndrome |
|
Nephrolithiasis |
ORPHA:2833 |
| Autosomal Recessive Spastic Paraplegia Type 48 |
|
Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction |
ORPHA:306511 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... |
OMIM:616000 |
| Omenn Syndrome |
|
Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosi... |
ORPHA:39041 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... |
OMIM:231680 |
| Lesch-Nyhan Syndrome |
|
Hematuria, Gout, Renal insufficiency, Hyperuricemia |
ORPHA:510 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalciuria, Hypocalciuria, Nephrolithiasis |
OMIM:145980 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia |
ORPHA:517 |
| Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Hyperphosphatemia, Hypomature enamel, Hematuria, Macroscopic hematuria, A... |
OMIM:248250 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Increased urinary glycerol, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthr... |
ORPHA:247598 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Medullary nephrocalcinosis, Hypercalciuria, Hyperphosphaturia, Nephrolithiasis |
ORPHA:157215 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
| Alstrom Syndrome |
|
Nephritis, Recurrent pneumonia, Chronic active hepatitis, Obesity, Renal insufficiency, Hypertrig... |
OMIM:203800 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Arthrogryposis multiplex congenita, Beta-aminoisobutyric aciduria, Hyperglycinemia |
OMIM:615330 |
| Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal hypoplasia, Renal insufficiency, Obesity |
OMIM:615996 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Umbilical hernia, Cholestasis, Po... |
OMIM:610199 |
| Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... |
ORPHA:53035 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Eosinophilia, Membranous nephropathy, Nephr... |
OMIM:618999 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid... |
OMIM:615008 |
| Argininosuccinic Aciduria |
|
Aminoaciduria, Failure to thrive, Oroticaciduria, Hyperammonemia, Increased circulating argininos... |
OMIM:207900 |
| Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:614844 |
| Autosomal Dominant Spastic Paraplegia Type 3 |
|
Distal lower limb muscle weakness, Distal lower limb amyotrophy, Urinary urgency, Lower limb hype... |
ORPHA:100984 |
| Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Protein... |
ORPHA:85445 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Bile duct pro... |
OMIM:208540 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... |
OMIM:617609 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Generalized aminoaciduria, Rickets, Failure to thrive, Hypocalce... |
OMIM:264700 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hyperglycinuria, Decreased circulating carnitine concentration, Ketonuria, Organic aciduria, Fail... |
OMIM:210210 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Elevated circulating palmitoleylcarnitine concentration, Methylmalonic aciduria, Failure to thriv... |
OMIM:251120 |
| Glucose-Galactose Malabsorption |
|
Hematuria, Renal insufficiency, Nephrolithiasis |
ORPHA:35710 |
| Molybdenum Cofactor Deficiency, Type A |
|
Hypouricemia, Decreased urinary urate, Increased urinary taurine, Increased urinary hypoxanthine ... |
OMIM:252150 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Joint contracture of the hand, Failure to thrive, Camptodactyly, Elevated circulat... |
OMIM:214110 |
| Rhyns Syndrome |
|
Osteopenia, Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
| Bardet-Biedl Syndrome 10 |
|
Renal cyst, Obesity, Renal insufficiency |
OMIM:615987 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxyisobutyric acid level, Elevated urinary 3-hydroxybutyric acid, Methylma... |
OMIM:614105 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
| Ochoa Syndrome |
|
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... |
ORPHA:2704 |
| Laron Syndrome |
|
Hypoplasia of penis, Hypercholesterolemia, Osteoarthritis, Truncal obesity |
ORPHA:633 |
| D-Glyceric Aciduria |
|
Hyperglycinuria, Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hypergl... |
ORPHA:941 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria |
OMIM:615398 |
| Propionic Acidemia |
|
Hyperammonemia, Organic aciduria |
ORPHA:35 |
| Lower Urinary Tract Obstruction, Congenital |
|
Vesicoureteral reflux, Urinary incontinence, Pollakisuria, Congenital posterior urethral valve, U... |
OMIM:618612 |
| Meckel Syndrome 13 |
|
Flexion contracture, Polycystic kidney dysplasia |
OMIM:617562 |
| Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
| Cholesteryl Ester Storage Disease |
|
Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Jaundice |
ORPHA:75234 |
| 46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Ureteropelvic junction obstruction, Hydronephrosis... |
OMIM:154230 |
| Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly |
OMIM:306000 |
| Propionic Acidemia |
|
Hyperglycinuria, Failure to thrive, Increased level of hippuric acid in urine, Eczematoid dermati... |
OMIM:606054 |
| Kaposiform Lymphangiomatosis |
|
Osteolysis, Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, ... |
ORPHA:464329 |
| Neuromyelitis Optica Spectrum Disorder |
|
Functional abnormality of the bladder |
ORPHA:71211 |
| Interstitial Cystitis |
|
Functional abnormality of the bladder, Abnormality of the urethra, Urinary bladder inflammation, ... |
ORPHA:37202 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Homocystinuria, Methylmalonic aciduria, Failure to thrive, Elevated circulating propionylcarnitin... |
OMIM:614857 |
| Isovaleric Acidemia |
|
Hyperglycinuria, Elevated urinary isovalerylglycine level |
OMIM:243500 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Alpha-aminoadipic aciduria, F... |
OMIM:605711 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypermethioninemia, Homocystinuria, Generalized osteoporosis, Limitation of joint mobility, Failu... |
OMIM:236200 |
| D-Glyceric Aciduria |
|
Aminoaciduria, Failure to thrive, Micropenis, Elevated circulating D-glyceric concentration, Nonk... |
OMIM:220120 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hyperglycinuria, Elevated urinary 7-hydroxyoctanoic acid level, Medium chain dicarboxylic aciduri... |
OMIM:201450 |
| Posterior Urethral Valve |
|
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... |
ORPHA:93110 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Hematuria, Elevated circulating C-reactive pr... |
ORPHA:231111 |
| Lysinuric Protein Intolerance |
|
Aminoaciduria, Hyperlysinuria, Failure to thrive, Increased circulating ferritin concentration, O... |
OMIM:222700 |
| H Syndrome |
|
Osteolysis, Microcytic anemia, Hepatosplenomegaly, Hernia, Lipodystrophy, Camptodactyly, Lymphade... |
ORPHA:168569 |
| Immunodeficiency 7 |
|
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy,... |
OMIM:615387 |
| Ketamine-Induced Biliary Dilatation |
|
Dysuria |
ORPHA:293807 |
| Molybdenum Cofactor Deficiency, Type C |
|
Hypouricemia, Hypertaurinemia, Increased urinary taurine, Hypocystinemia |
OMIM:615501 |
| Omenn Syndrome |
|
Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Ly... |
OMIM:603554 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Xanthelasma, Hyperlipid... |
OMIM:232200 |
| Hawkinsinuria |
|
Abnormal circulating tyrosine concentration, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacet... |
ORPHA:2118 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dysfunction, Prote... |
ORPHA:436271 |
| Autosomal Dominant Spastic Paraplegia Type 36 |
|
Urinary incontinence, Urinary urgency |
ORPHA:320365 |
| Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Hepatosplenomegaly, Hypersplenism, Increased LDL cholesterol concentra... |
OMIM:278000 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
| Diffuse Alveolar Hemorrhage |
|
Hematuria, Elevated circulating creatinine concentration, Weight loss, Proteinuria |
ORPHA:90060 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia, Polycystic liver disease, Polysplenia |
OMIM:211890 |
| Gitelman Syndrome |
|
Focal segmental glomerulosclerosis, Hypermagnesemia, Enuresis, Chondrocalcinosis, Failure to thri... |
ORPHA:358 |
| Tyrosinemia, Type I |
|
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Nephrocalcinosis, Eleva... |
OMIM:276700 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
| Autosomal Dominant Spastic Paraplegia Type 37 |
|
Urinary urgency, Lower limb muscle weakness |
ORPHA:171612 |
| Sialidosis Type 1 |
|
Aminoaciduria, Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosac... |
ORPHA:812 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypohomocysteinemia, Failure to thrive, Hypocystinemia, Decreased serum creatinine, Recurrent ski... |
OMIM:617744 |
| Castleman Disease |
|
Hematuria, Ureteral obstruction, Renal insufficiency, Elevated circulating C-reactive protein con... |
ORPHA:160 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketonuria |
OMIM:616095 |
| Congenital Myopathy 19 |
|
Hydronephrosis, Congenital contracture, Renal atrophy |
OMIM:618578 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Renal insufficiency, Hyperammonemia, Failure to thrive |
ORPHA:28 |
| Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hepatitis, Failure to thrive, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-posit... |
OMIM:304790 |
| Image Syndrome |
|
Hydronephrosis, Hypospadias |
ORPHA:85173 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Weight loss, Aminoaci... |
OMIM:219800 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Congenital diaphragmatic hernia, Decreased skull ossification, Omphalocele, ... |
OMIM:263210 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Homocystinuria, Methylmalonic aciduria, Failure to thrive, Hypomethioninemia, Hyperhomocystinemia |
OMIM:250940 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia |
OMIM:615863 |
| Endove Syndrome, Limb-Brain Type |
|
Failure to thrive, Recurrent urinary tract infections, Umbilical hernia, Osteomyelitis, Joint hyp... |
OMIM:619218 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
3-Methylglutaric aciduria, Glutaric aciduria, Acute pancreatitis, Decreased circulating carnitine... |
ORPHA:26791 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... |
OMIM:256100 |
| Thyrocerebrorenal Syndrome |
|
Nephritis, Renal insufficiency |
ORPHA:3327 |
| Autosomal Dominant Spastic Paraplegia Type 8 |
|
Urinary incontinence, Peroneal muscle atrophy, Urinary urgency, Lower limb muscle weakness |
ORPHA:100989 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Hyperlysinuria, Failure to thrive, Elevated circulating 2-trans,4-cis-decadienoylcarnitine concen... |
OMIM:616034 |
| Leukonychia Totalis |
|
Nephrolithiasis |
ORPHA:2387 |
| Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Urinary urgency |
ORPHA:314603 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... |
OMIM:620138 |
| Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria |
OMIM:606996 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Aciduria, Hyperalaninemia, Failure to thrive |
OMIM:617950 |
| Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Elevated circulating creatinine concentr... |
OMIM:137920 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Failure to thrive, Abnormal lymph node morphology, Decreased proportion of CD8-pos... |
ORPHA:911 |
| Canavan Disease |
|
Increased circulating N-acetylaspartic acid concentration, Elevated urine N-acetylaspartic acid l... |
OMIM:271900 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Xanthelasma, Hepatic steatosis, Polycystic ovaries, Tubulointerstitial fibrosis, Hepatomegaly, Ch... |
ORPHA:79259 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... |
OMIM:235400 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Hyperglycinemia, Lacticaciduria |
OMIM:619063 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Abnormal renal physiology, Elevated circulating creatinine con... |
OMIM:274150 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath... |
OMIM:600740 |
| Roifman Syndrome |
|
Splenomegaly, Hip contracture, Eosinophilia, Lymphadenopathy, Hepatomegaly |
OMIM:616651 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis, Decreased circu... |
OMIM:616829 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Failure to thrive, Hyperlipidemia, Glycosuria, Ketonuria |
ORPHA:2089 |
| Cloacal Exstrophy |
|
Hydroureter, Ureterocele, Horseshoe kidney, Vesicoureteral reflux, Ureteropelvic junction obstruc... |
ORPHA:93929 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Unilateral renal agenesis, Hyperammonemia, Knee flexion contracture, Hydronephrosis, Hypercholest... |
OMIM:620454 |
| Roifman Syndrome |
|
Hepatosplenomegaly, Hip contracture, Eosinophilia, Delayed proximal femoral epiphyseal ossificati... |
ORPHA:353298 |
| Roussy-Lévy Syndrome |
|
Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Urinary bladder sphincter... |
ORPHA:3115 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Decreased calvarial ossification, Hydronephrosis, Decreased body weight, C... |
OMIM:618265 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, 3-Methylglutaconic aciduria |
OMIM:619813 |
| Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight l... |
ORPHA:100024 |
| Lowe Oculocerebrorenal Syndrome |
|
Joint contracture of the hand, Osteomalacia, Proximal renal tubular acidosis, Bicarbonaturia, Ami... |
OMIM:309000 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia |
OMIM:619175 |
| Spastic Paraplegia 80, Autosomal Dominant |
|
Urinary urgency |
OMIM:618418 |
| Alveolar Echinococcosis |
|
Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hypertension, Hepatic... |
ORPHA:284 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Renal cyst, Polycystic liver disease, Increased total bilirubin |
OMIM:174050 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydronephrosis, Hydroureter |
OMIM:618240 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... |
ORPHA:79159 |
| Primary Pulmonary Hypoplasia |
|
Abnormal hemidiaphragm morphology, Ureteral stenosis |
ORPHA:2257 |
| Senior-Loken Syndrome 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis |
OMIM:606995 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Multicystic kidney dysplasia, Hydroureter, Ureterocele, Urinary retention, Recurrent urinary trac... |
ORPHA:79404 |
| Diaphanospondylodysostosis |
|
Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Absent in utero rib ossification, Absent... |
OMIM:608022 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dysfunction, Prote... |
OMIM:220110 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Hypervalinemia, Increa... |
OMIM:620085 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Bilateral renal atrophy, Carpal osteolysis, Metacarpal osteolysis, Metatarsal osteoly... |
OMIM:166300 |
| Paget Disease Of Bone 2, Early-Onset |
|
Hydroxyprolinuria, Fractures of the long bones, Sclerosis of skull base, Increased susceptibility... |
OMIM:602080 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas... |
OMIM:609057 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... |
OMIM:615415 |
| Caroli Syndrome |
|
Intrahepatic cholestasis, Hypersplenism, Leukopenia, Leukocytosis, Portal hypertension, Congenita... |
ORPHA:480520 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c... |
OMIM:614196 |
| Yao Syndrome |
|
Nephrolithiasis |
OMIM:617321 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia |
ORPHA:35878 |
| Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Obesity, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal d... |
OMIM:615993 |
| 8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
| Marcus-Gunn Syndrome |
|
Nephrolithiasis |
ORPHA:91412 |
| Hand-Foot-Genital Syndrome |
|
Abnormality of the urethra, Recurrent urinary tract infections, Vesicoureteral reflux, Ureteropel... |
ORPHA:2438 |
| Coach Syndrome 2 |
|
Elevated circulating creatinine concentration, Hyperechogenic kidneys |
OMIM:619111 |
| Helix Syndrome |
|
Hypocalciuria, Renal insufficiency, Polyuria, Nephrolithiasis |
OMIM:617671 |
| Igg4-Related Aortitis |
|
Hydronephrosis, Hypereosinophilia, Weight loss, Elevated circulating C-reactive protein concentra... |
ORPHA:449400 |
| Isolated Polycystic Liver Disease |
|
Increased total bilirubin, Multiple renal cysts, Hepatomegaly, Polycystic liver disease, Abnormal... |
ORPHA:2924 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Increased body weight, Portal fibrosis, Failure to thrive, Cholestasis, Splenom... |
ORPHA:264580 |
| Relapsing Fever |
|
Acute kidney injury, Abnormality of the urinary system, Increased total bilirubin, Elevated circu... |
ORPHA:91547 |
| Nephronophthisis 9 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts |
OMIM:613824 |
| 6P22 Microdeletion Syndrome |
|
Hydronephrosis, Hernia |
ORPHA:251046 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Hepatomegaly, Anemia, Abnormal bone structure |
ORPHA:46532 |
| Glycogen Storage Disease V |
|
Myoglobinuria, Dark urine, Hyperuricemia, Elevated circulating creatine kinase concentration |
OMIM:232600 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Proteinur... |
OMIM:620010 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Failure to thrive, Hypertyrosinemia, Lacticaciduria, Tubulointerstitial nephritis,... |
OMIM:124000 |
| Hartnup Disease |
|
Neutral hyperaminoaciduria, Abnormal urinary color |
ORPHA:2116 |
| Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria |
OMIM:245050 |
| Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Ascites, Leukocytosis, Eosinophilia, Weight loss, Elevated circulating C-reactiv... |
ORPHA:2070 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Renal cyst, Epiphyseal stippling |
OMIM:614870 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... |
ORPHA:731 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Achilles tendon calcification, Polyuria, Nephrolithiasis |
OMIM:617994 |
| Fumarase Deficiency |
|
Aminoaciduria, Elevated urine fumaric acid level, Failure to thrive, Hyperbilirubinemia, Reduced ... |
OMIM:606812 |
| Femoral-Facial Syndrome |
|
Long penis, Inguinal hernia, Renal hypoplasia/aplasia, Abnormal localization of kidney, Polycysti... |
ORPHA:1988 |
| Alport Syndrome 2, Autosomal Recessive |
|
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... |
OMIM:203780 |
| Atresia Of Urethra |
|
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... |
ORPHA:105 |
| Holzgreve Syndrome |
|
Renal hypoplasia, Renal agenesis |
OMIM:236110 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Enuresis, Decreased body mass index, Decreased HDL cholesterol concentration, Hy... |
ORPHA:247585 |
| Odontochondrodysplasia 1 |
|
Dentinogenesis imperfecta, Nephronophthisis, Osteoporosis, Polycystic kidney dysplasia, Delayed o... |
OMIM:184260 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Systemic Lupus Erythematosus |
|
Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis |
OMIM:152700 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Homocystinuria, Cystathioninemia, Methylmalonic aciduria, Cystathioninuria, Elevated circulating ... |
OMIM:277380 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Generalized aminoaciduria, Rickets, Failure to thrive, Osteomala... |
ORPHA:289157 |
| Meier-Gorlin Syndrome 8 |
|
Unilateral renal hypoplasia, Nephroptosis, Decreased body weight |
OMIM:617564 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,... |
ORPHA:169154 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Homocystinuria, Methylmalonic aciduria, Hypomethioninemia, Hyperhomocystinemia, Methylmalonic aci... |
OMIM:277410 |
| Intermediate Uveitis |
|
Psoriasiform dermatitis, Optic neuritis, Tubulointerstitial nephritis, Macular scar, Anterior uve... |
ORPHA:279914 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Increased circulating very long-chain fatty acid concentration, Failure to thrive, C... |
OMIM:614866 |
| Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Elevated circula... |
OMIM:617388 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydronephrosis, Hydroureter |
OMIM:598500 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Hyperuricemia, Proteinuri... |
ORPHA:261222 |
| Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Organic aciduria |
OMIM:617184 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:610539 |
| Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Inc... |
ORPHA:3202 |
| Temple Syndrome |
|
Recurrent otitis media, Obesity, Joint hypermobility, Hypercholesterolemia, Truncal obesity, Hype... |
OMIM:616222 |
| Adult Polyglucosan Body Disease |
|
Urinary incontinence, Neurogenic bladder, Urinary bladder sphincter dysfunction |
ORPHA:206583 |
| Molybdenum Cofactor Deficiency, Type B |
|
Hypouricemia, Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine ... |
OMIM:252160 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... |
OMIM:618061 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Hyperalaninemia, Hyperprolinemia, Lacticaciduria |
OMIM:619003 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Flexion contracture, Elevated circulating creatine kinase concentration |
OMIM:253600 |
| Hand-Foot-Genital Syndrome |
|
Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, C... |
OMIM:140000 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Splenomegaly, Renal tubular acidosis, Polycystic ovaries, Elevated circulating ... |
ORPHA:79240 |
| Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Enuresis |
OMIM:613670 |
| Gaisböck Syndrome |
|
Nephrocalcinosis, Hypernatriuria, Obesity, Gout, Cholecystitis, Hyperuricemia, Hypercholesterolem... |
ORPHA:90041 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
| Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... |
OMIM:615751 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
| Plasminogen Deficiency, Type I |
|
Nephritis, Nephrolithiasis |
OMIM:217090 |
| Morgagni-Stewart-Morel Syndrome |
|
Acne, Obesity, Hyperuricemia, Hypercholesterolemia, Osteoarthritis, Osteoporosis, Hyperostosis fr... |
ORPHA:77296 |
| Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
| Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
| Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Renal insufficiency |
OMIM:618681 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... |
OMIM:607616 |
| Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
| Cranioectodermal Dysplasia 1 |
|
Chronic kidney disease, Renal magnesium wasting, Stage 1 chronic kidney disease, Stage 5 chronic ... |
OMIM:218330 |
| Cocaine Intoxication |
|
Acute kidney injury, Elevated circulating creatine kinase concentration, Hematuria, Proteinuria, ... |
ORPHA:90068 |
| Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Renovascular hypertension, Hypercholesterolemia, Overweight |
ORPHA:401923 |
| Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos... |
ORPHA:223 |
| Syndromic Diarrhea |
|
Hepatic fibrosis, Renal hypoplasia, Lymphopenia, Abnormality of the liver, Splenomegaly, Inguinal... |
ORPHA:84064 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Aminoaciduria, Failure to thrive, Elevated circulating creatine kinase concentra... |
OMIM:619055 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Urinary incontinence, Urinary hesitancy, Urinary urgency, Nocturia |
OMIM:609727 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Organic aciduria |
OMIM:614741 |
| Lesch-Nyhan Syndrome |
|
Hyperuricosuria, Nephrocalcinosis, Nephrolithiasis |
OMIM:300322 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, Nephrocalcinosis |
OMIM:616084 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Failure to thrive, Hyperammonemia, Joint hypermobility, Hydronephrosis, Decrease... |
OMIM:617093 |
| Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
| Wilson Disease |
|
Hypouricemia, Hypoalbuminemia, Aminoaciduria, Chondrocalcinosis, Glycosuria, Osteomalacia, Hyperb... |
OMIM:277900 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Ankle flexion contracture, Hyperammonemia, 3-Methylglutaconic aciduria, Elevated circulating crea... |
OMIM:618120 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Omphalocele, Hepatomegaly, Craniosyn... |
OMIM:200995 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Splen... |
OMIM:210250 |
| Congenital Generalized Lipodystrophy |
|
Failure to thrive, Hepatic steatosis, Polycystic ovaries, Adipose tissue loss, Cirrhosis, Hyperch... |
ORPHA:528 |
| Cog4-Cdg |
|
Failure to thrive in infancy, Hepatosplenomegaly, Cirrhosis, Hypercholesterolemia, Thrombocytopenia |
ORPHA:263501 |
| Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract, Limitation of joint mobility, Osteolysis |
ORPHA:873 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Failure to thrive, Acute hyperammonemi... |
OMIM:210200 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urina... |
OMIM:604360 |
| Bacterial Toxic-Shock Syndrome |
|
Cellulitis, Glomerulonephritis, Recurrent skin infections, Elevated circulating creatinine concen... |
ORPHA:36234 |
| Autosomal Dominant Spastic Paraplegia Type 19 |
|
Lower limb amyotrophy, Urinary urgency, Lower limb muscle weakness |
ORPHA:100999 |
| Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
| Alkaptonuria |
|
Elevated urinary homogentisic acid, Decreased glomerular filtration rate, Dark urine, Thickened A... |
OMIM:203500 |
| Urocanic Aciduria |
|
Abnormal circulating histidine concentration, Urocanic aciduria |
ORPHA:210128 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Failure to thrive, Epiphyseal stippling, Hydronephrosis, Elevated circulating long... |
OMIM:214100 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Distal Triplication 15Q |
|
Dilatation of the renal pelvis, Horseshoe kidney, Large for gestational age, Nephroblastoma, Hydr... |
ORPHA:314588 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Renal hypoplasia, Failure to thrive, Vesicoureteral reflux, Inguinal hernia, Hydronephrosis |
OMIM:613735 |
| Multiple Myeloma |
|
Nephropathy, Osteopenia, Acute kidney injury, Pathologic fracture, Elevated circulating creatinin... |
ORPHA:29073 |
| Tyrosinemia, Type Iii |
|
4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria, Hypertyrosinemia |
OMIM:276710 |
| Trimethylaminuria |
|
Anemia, Trimethylaminuria, Splenomegaly, Neutropenia |
OMIM:602079 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Hyperechogenic kidneys, Elevated circulating creatinine concentration, Reduced haptoglobin level,... |
OMIM:301110 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Calcium nephrolithiasis, Hypercalciuria, Renal tubular dysfunction |
OMIM:241530 |
| Smith-Magenis Syndrome |
|
Failure to thrive in infancy, Abnormality of the ureter, Obesity, Joint stiffness, Renal hypoplas... |
ORPHA:819 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase conc... |
ORPHA:64753 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Lymph node ... |
OMIM:602450 |
| Nephronophthisis 4 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... |
OMIM:606966 |
| Smith-Magenis Syndrome |
|
Abnormality of the urinary system, Increased body weight, Abnormal renal morphology, Hypercholest... |
OMIM:182290 |
| Mucopolysaccharidosis, Type X |
|
Left ventricular hypertrophy, Dermatan sulfate excretion in urine, Nephrolithiasis |
OMIM:619698 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia |
OMIM:118830 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... |
ORPHA:766 |
| Fructose Intolerance, Hereditary |
|
Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Failure to thrive, Hyperbilirubinemia,... |
OMIM:229600 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... |
ORPHA:2394 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Recurrent otitis media, Obesity, Hypercholesterolemia, Joint hypermobility |
ORPHA:254531 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphadenitis, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Decreas... |
ORPHA:331206 |
| Spastic Paraplegia Type 7 |
|
Upper limb muscle weakness, Lower limb muscle weakness, Ragged-red muscle fibers, Urinary urgency... |
ORPHA:99013 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Methylmalonic aciduria, Cysta... |
OMIM:277400 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts |
OMIM:173900 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Aminoaciduria, Elevated hepatic iron concentration |
OMIM:614946 |
| D-Lactic Aciduria With Gout |
|
Elevated urine D-lactate level, Lacticaciduria |
OMIM:245450 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Craniosynostosis, Eosinophilia, Joint contracture of the hand |
OMIM:618523 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
| Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Abnormality of the lymphat... |
ORPHA:1414 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi... |
OMIM:605814 |
| Argininemia |
|
Oroticaciduria, Diaminoaciduria, Hyperammonemia, Hyperargininemia |
OMIM:207800 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... |
OMIM:237800 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hepatic fibrosis, Renal hypoplasia, Ascites, Renal cyst, Polycystic kidney dysplasia, Hypospadias |
OMIM:614091 |
| Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ... |
OMIM:610984 |
| Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Failure... |
ORPHA:97362 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Abnormality of the ureter, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia |
ORPHA:1046 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Cellulitis, Osteopenia, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutr... |
ORPHA:486 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... |
OMIM:613673 |
| Joubert Syndrome 35 |
|
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections |
OMIM:618161 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Bone marrow hypocellularity, Heparan sulfate excretion in urine, Hepatosplenomeg... |
ORPHA:505248 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adeno... |
OMIM:102700 |
| Autism, Susceptibility To, 3 |
|
Ketonuria |
OMIM:608049 |
| Myh9-Related Disease |
|
Nephropathy, Nephritis, Renal insufficiency, Proteinuria |
ORPHA:182050 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Failure to thrive, Pancytopenia, Abnormality of the liver, Mac... |
ORPHA:2169 |
| Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:613390 |
| Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Osteopenia, Umbilical hernia, Splenic cyst, Ovarian cyst, Inguinal her... |
OMIM:618188 |
| Al-Gazali Syndrome |
|
Osteopenia, Recurrent pneumonia, Failure to thrive, Recurrent fractures, Hydronephrosis, Wrist fl... |
OMIM:609465 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Hepatitis, Failure to thrive secondary to recurrent infections, Lymphopenia, Hepatosplenomegaly, ... |
ORPHA:169160 |
| Eosinophilic Fasciitis |
|
Cellulitis, Abnormal eosinophil morphology, Fasciitis, Eosinophilia, Weight loss |
ORPHA:3165 |
| Interstitial Lung And Liver Disease |
|
Aminoaciduria, Hyperammonemia, Failure to thrive |
OMIM:615486 |
| Jeune Syndrome |
|
Nephropathy, Nephronophthisis, Renal insufficiency |
ORPHA:474 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Failure to thrive, Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepat... |
OMIM:269920 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hydronephrosis, Hyperextensibility of the finger joints |
OMIM:619797 |
| Distal Duplication 6P |
|
Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system, Hernia |
ORPHA:1745 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia |
OMIM:620211 |
| Nephronophthisis 19 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... |
OMIM:616217 |
| Amelogenesis Imperfecta, Type Ig |
|
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis |
OMIM:204690 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Hyperlysinemia |
|
Hypoornithinemia, Hyperlysinuria, Recurrent pneumonia, Failure to thrive, Hyperammonemia, Hyperly... |
ORPHA:2203 |
| Autosomal Recessive Spastic Paraplegia Type 15 |
|
Upper limb muscle weakness, Distal amyotrophy, Functional abnormality of the bladder, Leg muscle ... |
ORPHA:100996 |
| Spastic Paraplegia 7, Autosomal Recessive |
|
Upper limb muscle weakness, Upper limb hypertonia, Lower limb muscle weakness, Urinary bladder sp... |
OMIM:607259 |
| Alport Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular... |
ORPHA:63 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Periodontitis, Osteomalacia, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Chroni... |
ORPHA:534 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Rickets, Failure to thrive, Extramedullary hematopoiesis, Cholestasis, Dark... |
ORPHA:79303 |
| Frontometaphyseal Dysplasia |
|
Hypoplasia of the musculature, Joint contracture of the hand, Interphalangeal joint contracture o... |
ORPHA:1826 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome... |
OMIM:618963 |
| Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Renal insufficiency, Splenomegaly, Hyperammonemia, Hepatomegaly, Pancreatitis,... |
ORPHA:79312 |
| Axial Osteomalacia |
|
Osteomalacia, Elevated circulating creatine kinase concentration, Renal cyst, Increased bone mine... |
OMIM:109130 |
| Occipital Horn Syndrome |
|
Ureteral obstruction, Hydronephrosis, Bladder diverticulum, Decreased circulating ceruloplasmin c... |
OMIM:304150 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Nephritis, Keloids, Unilateral renal atrophy, Pyelonephritis, Renal dysplasia |
OMIM:314300 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Functional abnormality of the bladder, Decreased muscle mass, Horseshoe kidney, Myopathy, Nephrol... |
ORPHA:2953 |
| Trisomy 17P |
|
Flexion contracture, Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dyspl... |
ORPHA:261290 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Dysuria, Urinary incontinence, Abnormality of the urethra, Urinary retention |
ORPHA:2795 |
| Familial Isolated Hyperparathyroidism |
|
Osteopenia, Nephrocalcinosis, Chondrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophos... |
ORPHA:99879 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Distal amyotrophy, Foot dorsiflexor weakness, Hand muscle atrophy, Weakness of facial musculature... |
OMIM:618811 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Elevated circulating creatinine concentration, Hyperbilirubinemia, Skin rash... |
ORPHA:542323 |
| Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Small for gestational age, Failure to thrive, Hydronephrosis, Chronic ... |
OMIM:609757 |
| Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Eczematoid dermatitis, Organic aciduria, Hyperammonemia, Keratoconjunctivitis, W... |
ORPHA:79242 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... |
ORPHA:158057 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge... |
OMIM:223900 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormal medullary pyramid morphology, Recurrent aspiration pneumonia, Increased serum pyruvate, ... |
ORPHA:79243 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepat... |
OMIM:614480 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Abnormally low T cell receptor excision circle level, Eosinophilia |
OMIM:618092 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Shoulder girdle muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotr... |
OMIM:606071 |
| Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
| Spinocerebellar Ataxia 42 |
|
Urinary incontinence, Urinary urgency |
OMIM:616795 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Ascites, Sidero... |
OMIM:617021 |
| Primary Hyperoxaluria |
|
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Stage 5 chronic kid... |
ORPHA:416 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Osteopenia, Rheumatoid arthritis, Hepatitis, Iridocyclitis, Keratoconjunctivi... |
ORPHA:227990 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries |
ORPHA:90301 |
| Webb-Dattani Syndrome |
|
Obesity, Vesicoureteral reflux, Hydronephrosis, Neurogenic bladder, Hyposthenuria, Hypernatremia |
OMIM:615926 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... |
ORPHA:158684 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Nephropathy, Pneumonia, Elevated circulating creatinine concentration, Skin rash, Proteinuria, Gl... |
ORPHA:247691 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Elevated circulating tetradecanoylcarnitine concentration, Increased urine alpha-ketoglutarate co... |
OMIM:619355 |
| Otopalatodigital Syndrome Type 2 |
|
Hydronephrosis, Ureteral obstruction, Hypospadias |
ORPHA:90652 |
| Spastic Paraplegia 84, Autosomal Recessive |
|
Ankle flexion contracture, Leg muscle stiffness, Lower limb muscle weakness, Hip contracture, Kne... |
OMIM:619621 |
| Harderoporphyria |
|
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp... |
OMIM:618892 |
| Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Increased subcutaneous truncal adipose tissue, Contr... |
ORPHA:2457 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Nephrolithiasis |
OMIM:615474 |
| Myopathy, Myofibrillar, 7 |
|
Enuresis nocturna, Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle... |
OMIM:617114 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Nephrolithiasis |
ORPHA:369929 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Failure to thrive, Hyperalaninemia, Hyperammonemia, 3-Methylglutaconic aciduria |
OMIM:614739 |
| Hawkinsinuria |
|
Hawkinsinuria, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria, Hypertyrosinemia |
OMIM:140350 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Nephrolithiasis |
ORPHA:93160 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... |
ORPHA:3261 |
| Prune Belly Syndrome |
|
Hydronephrosis, Hydroureter, Congenital posterior urethral valve |
OMIM:100100 |
| Isolated Epispadias |
|
Urinary incontinence, Anteriorly displaced urethral meatus, Vesicoureteral reflux, Epispadias |
ORPHA:93928 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypocalciuria, Hypomagnesiuria, Nephrolithiasis, Parathormone-independent increased renal tubular... |
ORPHA:405 |
| Spastic Paraplegia 15, Autosomal Recessive |
|
Distal amyotrophy, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary inc... |
OMIM:270700 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the... |
ORPHA:2970 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Osteopenia, Rheumatoid arthritis, Hepatitis, Hashimoto thyroiditis, Iridocycl... |
ORPHA:227982 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Ketonuria, Glycosuria |
OMIM:618857 |
| Autosomal Dominant Spastic Paraplegia Type 10 |
|
Leg muscle stiffness, Lower limb muscle weakness, Distal lower limb amyotrophy, Dupuytren contrac... |
ORPHA:100991 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Generalized aminoaciduria, Failure to thrive, Hyperbilirubinemia, Elevated circu... |
OMIM:251880 |
| Heme Oxygenase 1 Deficiency |
|
Nephritis, Increased circulating ferritin concentration, Hematuria, Proteinuria, Elevated circula... |
OMIM:614034 |
| Dysbetalipoproteinemia |
|
Xanthelasma, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Gout, Renal ... |
ORPHA:412 |
| Tetraploidy |
|
Hydronephrosis, Radial club hand, Renal hypoplasia/aplasia |
ORPHA:3305 |
| Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Abnormality of connective tissue, Weight loss, Hepatomegaly, Mediastinal lymph... |
ORPHA:79128 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis |
OMIM:249210 |
| Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice, Reduced bone ... |
ORPHA:172 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Penoscrotal Transposition |
|
Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,... |
ORPHA:2842 |
| Autosomal Dominant Spastic Paraplegia Type 12 |
|
Urinary incontinence, Lower limb amyotrophy, Urinary urgency, Lower limb muscle weakness |
ORPHA:100993 |
| Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis |
ORPHA:36913 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hydronephrosis, Contracture of the proximal interphalangeal joint of the 5th finger, Inguinal hernia |
OMIM:620141 |
| Leigh Syndrome |
|
Generalized aminoaciduria, Methylmalonic aciduria, Failure to thrive, Eczematoid dermatitis, Rena... |
ORPHA:506 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased glomerular fil... |
OMIM:602522 |
| Joubert Syndrome 15 |
|
Micropenis, Nephronophthisis |
OMIM:614464 |
| Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Hyperammonemia, Elevated circulating cr... |
OMIM:255120 |
| Sarcoidosis |
|
Nephrocalcinosis, Parotitis, Renal insufficiency, Bone cyst, Nephrolithiasis, Scarring, Hypercalc... |
ORPHA:797 |
| Teebi-Shaltout Syndrome |
|
Horseshoe kidney, Hydronephrosis, Ureteral stenosis |
OMIM:272950 |
| Developmental And Epileptic Encephalopathy 111 |
|
Nephrolithiasis |
OMIM:620504 |
| Arima Syndrome |
|
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Hepatic steatosis, Renal sodi... |
OMIM:243910 |
| Thyrocerebroretinal Syndrome |
|
Nephritis |
OMIM:274240 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hyperammonemia, Elevated circulati... |
ORPHA:42 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia,... |
OMIM:615952 |
| Rhyns Syndrome |
|
Chronic kidney disease, Osteopenia, Nephronophthisis, Renal insufficiency, Osteoporosis |
OMIM:602152 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Spinocerebellar Ataxia 25 |
|
Urinary urgency, Facial myokymia |
OMIM:608703 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Decreased skull ossification, Hydronephrosis, Multiple prenatal fractures, Micropenis... |
OMIM:616897 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Urinary bladder sphincter dysfunction |
ORPHA:320401 |
| Xq28 (MECP2) duplication |
|
Functional abnormality of the bladder |
DECIPHER:45 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Increased adipose tissue around the neck, Decreased HDL cholesterol concentration, Increased faci... |
OMIM:151660 |
| Bardet-Biedl Syndrome 20 |
|
Obesity, Proteinuria, Pancreatitis, Hypercholesterolemia, Micropenis |
OMIM:619471 |
| Cockayne Syndrome Type 1 |
|
Foot joint contracture, Failure to thrive, Renal insufficiency, Proteinuria, Anemia, Scarring, En... |
ORPHA:90321 |
| Pgm3-Cdg |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... |
ORPHA:443811 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Increased blood u... |
ORPHA:230 |
| Richards-Rundle Syndrome |
|
Joint stiffness, Reduced bone mineral density, Ketonuria |
ORPHA:1399 |
| Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... |
OMIM:207750 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abnormal liver parenchyma morpho... |
ORPHA:3032 |
| Spastic Paraplegia Type 2 |
|
Spastic/hyperactive bladder |
ORPHA:99015 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, Hyperammonemia, 3-Methylglutaconic aciduria, Infectious encephalitis, Ab... |
ORPHA:1194 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Hypereosinophilia, Leukocytosis, Weight loss |
ORPHA:2902 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Urinary incontinence, Urinary urgency |
OMIM:612319 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Upper limb muscle weakness, Distal lower limb amyotrophy, Urinary urgency, Lower limb muscle weak... |
OMIM:609195 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hepatitis, Failure to thrive, Macrocytic anemia, Hyperuricemia, Hyponatremia, ... |
ORPHA:199299 |
| Acute Generalized Exanthematous Pustulosis |
|
Cholestasis, Renal insufficiency, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutr... |
ORPHA:293173 |
| Primary Sjögren Syndrome |
|
Arteritis, Parotitis, Chronic active hepatitis, Chronic hepatitis, Renal insufficiency, Lymphocyt... |
ORPHA:289390 |
| Bardet-Biedl Syndrome 4 |
|
Renal cyst, Obesity, Abnormality of the kidney |
OMIM:615982 |
| Hyperoxaluria, Primary, Type I |
|
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l... |
OMIM:259900 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Increased serum beta-hexosaminidase, Failure to thrive, Umbilical hernia, Splenomegal... |
OMIM:252500 |
| Proteus Syndrome |
|
Mandibular hyperostosis, Cerebriform connective tissue nevus, Facial hyperostosis, Splenomegaly, ... |
OMIM:176920 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Urolithiasis, Renal insufficiency, Hyperuricosuria, Uric acid nephrolithiasis, Hypospadias |
OMIM:300661 |
| Bladder Exstrophy |
|
Recurrent urinary tract infections, Abnormality of the ureter, Vesicoureteral reflux, Hypoplasia ... |
ORPHA:93930 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
| Immunodeficiency 23 |
|
Failure to thrive, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Membranoproliferative glomeru... |
OMIM:615816 |
| Granulomatosis With Polyangiitis |
|
Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Hydronephrosis, Glomerulopathy, E... |
ORPHA:900 |
| Joubert Syndrome 37 |
|
Hydronephrosis, Obesity, Micropenis, Joint hypermobility |
OMIM:619185 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Decreased circulating carnitine concentration, Organic aciduria, Abnormal circulating carnitine c... |
ORPHA:431361 |
| Recombinant Chromosome 8 Syndrome |
|
Hydronephrosis, Joint contracture of the hand, Camptodactyly |
OMIM:179613 |
| Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency... |
ORPHA:93552 |
| Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis |
ORPHA:97289 |
| Joubert Syndrome 7 |
|
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:611560 |
| Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis, Arthrogryposis multiplex congenita |
OMIM:607598 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Nephrolithiasis |
OMIM:219090 |
| Endove Syndrome, Limb-Only Type |
|
Hydronephrosis, Vesicoureteral reflux |
OMIM:619217 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Hepatic fibrosis, Proximal tubulopathy, Failure to thrive, Renal cyst, Cirrhosis... |
OMIM:602579 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine |
OMIM:612736 |
| Glycogen Storage Disease Vii |
|
Increased total bilirubin, Exercise-induced myoglobinuria, Gout, Hyperuricemia, Elevated circulat... |
OMIM:232800 |
| Acquired Central Diabetes Insipidus |
|
Pollakisuria |
ORPHA:95626 |
| Branchiootorenal Syndrome 1 |
|
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico... |
OMIM:113650 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Renal cortical cysts, Vesicoureteral reflux, Diastasis recti, Nephroblastoma, N... |
OMIM:130650 |
| Central Diabetes Insipidus |
|
Nocturia |
ORPHA:178029 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Recurrent otitis media, Obesity, Joint hypermobility, Hypercholesterolemia, Truncal obesity, Smal... |
ORPHA:96184 |
| Epidermal Nevus Syndrome |
|
Osteopenia, Polycystic kidney dysplasia, Lipoma |
ORPHA:35125 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Camptodactyly, Failure to thrive |
OMIM:608104 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... |
OMIM:616860 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:1802 |
| Senior-Boichis Syndrome |
|
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Increased t... |
ORPHA:84081 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ... |
ORPHA:79403 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Renal hypoplasia, Ketonuria |
OMIM:619053 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycy... |
ORPHA:116 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Increased circulating iron concentration, Increased circulating ferritin concen... |
OMIM:613313 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydronephrosis, Hydroureter, Megacystis |
OMIM:619431 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Arthrogryposis multiplex congenita, Vesicoureteral reflux, Elevated circulating creatine kinase c... |
OMIM:301056 |
| Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Osteoporosis, Eosinophilia |
OMIM:620532 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy... |
ORPHA:447 |
| Hanac Syndrome |
|
Hematuria, Multiple renal cysts, Renal insufficiency |
ORPHA:73229 |
| Aspergillosis |
|
Eosinophilia, Hepatitis, Neutropenia, Abnormality of the kidney |
ORPHA:1163 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Abnormality of the urinary system, Ureteral stenosis |
ORPHA:2719 |
| Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... |
ORPHA:232 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... |
OMIM:613550 |
| Pandas |
|
Enuresis |
ORPHA:66624 |
| ERI1-related disease |
|
Osteopenia, Failure to thrive, Vesicoureteral reflux, Limited elbow extension, Inguinal hernia, D... |
OMIM:608739 |
| Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... |
OMIM:613159 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Failure to thrive, Elevated 8(9)-cholestenol, Stippled calcification in carpal bones, Epiphyseal ... |
OMIM:302960 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Urinary urgency |
OMIM:617225 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Unilateral renal agenesis, Renal hypoplasia, Recurrent otitis media, Joint hypermobility, Hydrone... |
OMIM:618494 |
| Renal Coloboma Syndrome |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Joint... |
ORPHA:1475 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Urethral atresia, Enlarged kidney |
OMIM:314390 |
| Nail-Patella Syndrome |
|
Thickened glomerular basement membrane, Contracture of the distal interphalangeal joint of the fi... |
ORPHA:2614 |
| Duplication Of Urethra |
|
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... |
ORPHA:237 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... |
ORPHA:444463 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Displacement of the urethr... |
ORPHA:2973 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Portal hypertension, Sclerosing cholang... |
OMIM:619662 |
| Arachnoiditis |
|
Urinary bladder sphincter dysfunction |
ORPHA:137817 |
| Methylmalonic Aciduria, Cbla Type |
|
Ketonuria, Methylmalonic aciduria, Failure to thrive, Hyperglycinemia, Hyperammonemia, Elevated u... |
OMIM:251100 |
| Foix-Alajouanine Syndrome |
|
Functional abnormality of the bladder, Urinary retention, Lower limb muscle weakness, Distal lowe... |
ORPHA:79093 |
| Simple Cryoglobulinemia |
|
Nephritis, Viral hepatitis, Renal insufficiency, Mesangial hypercellularity, Proteinuria, Weight ... |
ORPHA:91139 |
| Alport Syndrome 1, X-Linked |
|
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... |
OMIM:301050 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Pancreatitis, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction |
ORPHA:289916 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Failure to thrive, Oroticaciduria, Hyperglycinemia, Hyperammonemia, Hyperglutamatemia, Hyperproli... |
OMIM:620358 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, D... |
OMIM:605911 |
| Amyloidosis, Hereditary Systemic 2 |
|
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ... |
OMIM:105200 |
| Lymphatic Filariasis |
|
Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Hema... |
ORPHA:2035 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
| Wells Syndrome |
|
Cellulitis, Eosinophilia |
ORPHA:901 |
| Alpha-Heavy Chain Disease |
|
Ascites, Splenomegaly, Hypocalcemia, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:100025 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Abnormality of the lymphatic system, Multiple lipomas, Ovarian serous cystadenoma... |
ORPHA:276280 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... |
OMIM:185000 |
| Fliedner-Zweier Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Obesity, Joint hypermobility, Hydronephr... |
OMIM:620511 |
| Isolated Atp Synthase Deficiency |
|
Renal hypoplasia, Hyperalaninemia, Hyperammonemia, 3-Methylglutaconic aciduria |
ORPHA:254913 |
| Methylmalonic Aciduria, Cblb Type |
|
Ketonuria, Methylmalonic aciduria, Failure to thrive, Elevated circulating propionylcarnitine con... |
OMIM:251110 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Proximal amyotrophy, Renal cell carcinoma, Nephrolithiasis |
ORPHA:189427 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Pancy... |
OMIM:300635 |
| Sialidosis Type 2 |
|
Nephropathy, Umbilical hernia, Ascites, Splenomegaly, Inguinal hernia, Hepatomegaly, Osteoporosis... |
ORPHA:87876 |
| Immunodeficiency 115 With Autoinflammation |
|
Hypoalbuminemia, Intestinal lymphangiectasia, Elevated haptoglobin level, Abnormal circulating cr... |
OMIM:620632 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... |
ORPHA:99880 |
| Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Vesicoureteral reflux, Joint hyperm... |
ORPHA:2484 |
| Citrullinemia, Classic |
|
Failure to thrive, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Hypoargininemia, Elevated p... |
OMIM:215700 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Urinary incontinence, Hypotriglyceridemia, Decreased HDL cholesterol ... |
OMIM:618885 |
| Alkaptonuria |
|
Aminoaciduria, Elevated urinary homogentisic acid, Joint stiffness, Dark urine, Increased suscept... |
ORPHA:56 |
| Mesomelia-Synostoses Syndrome |
|
Synostosis of joints, Synostosis of carpal bones, Umbilical hernia, Joint stiffness, Hydronephros... |
ORPHA:2496 |
| Suleiman-El-Hattab Syndrome |
|
Hydronephrosis, Inguinal hernia, Failure to thrive |
OMIM:618950 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Methylmalonic aciduria, Failure to thrive, Hyperglycinemia, Lacticaciduria, Hypertaurinemia |
OMIM:245400 |
| 15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormal renal morphology |
ORPHA:314585 |
| Hereditary Folate Malabsorption |
|
Failure to thrive, Recurrent urinary tract infections, Pancytopenia, Eosinophilia, Megaloblastic ... |
ORPHA:90045 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Elevated urine acetoacetic acid level, Alpha-aminoadipic aciduria, 3-Methylglutaconic aciduria |
OMIM:620089 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Abnormality of the kidney, Nephrolithiasis |
ORPHA:521445 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr... |
ORPHA:90038 |
| Immunodeficiency 27A |
|
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Th... |
OMIM:209950 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatosplenomegaly, Hypersplenism, Xanthelasma, Cachexia, Weight loss, Jaundice, Renal salt wasti... |
ORPHA:275761 |
| Split-Hand/Foot Malformation 3 |
|
Camptodactyly, Renal hypoplasia |
OMIM:246560 |
| Tetrasomy 15Q26 |
|
Horseshoe kidney, Camptodactyly, Hydronephrosis |
OMIM:614846 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Osteopenia, Dentinogenesis imperfecta, Periodontitis, Obesity, Hydronephrosis |
OMIM:619269 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia, Decreased calvarial ossification |
OMIM:617866 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
| Senior-Loken Syndrome 8 |
|
Glomerular subepithelial immune-complex deposits, Global glomerulosclerosis, Stage 5 chronic kidn... |
OMIM:616307 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... |
ORPHA:86816 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Homocystinuria, Cystathioninemia, Failure to thrive, Hypomethioninemia, Hyperhomocystinemia |
ORPHA:395 |
| Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal concentrating abilit... |
OMIM:614227 |
| Spastic Ataxia 3, Autosomal Recessive |
|
Neurogenic bladder, Urinary urgency |
OMIM:611390 |
| Parathyroid Carcinoma |
|
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... |
ORPHA:143 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Obesity, Nephronophthisis |
OMIM:615630 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Keto... |
OMIM:246450 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
| Alagille Syndrome 2 |
|
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria |
OMIM:610205 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration, Epiphys... |
OMIM:614862 |
| Gapo Syndrome |
|
Nephrolithiasis |
ORPHA:2067 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... |
ORPHA:231222 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration, Renal insufficiency, Renal cyst |
OMIM:617478 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Generalized aminoaciduria, Tarsal sclerosis, Hypotriglyceridemia, Failure to thrive, Sclerosis of... |
ORPHA:404454 |
| Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Ketonuria, Hyperammonemia, Failure to thrive |
OMIM:615453 |
| Spinal Arteriovenous Metameric Syndrome |
|
Abnormality of the kidney, Urinary bladder sphincter dysfunction |
ORPHA:53721 |
| Coccidioidomycosis |
|
Atypical scarring of skin, Granuloma, Abnormality of the spleen, Abnormality of the liver, Renal ... |
ORPHA:228123 |
| Congenital Myopathy 17 |
|
Renal hypoplasia, Ureteropelvic junction obstruction, Myopathy, Hydronephrosis, Distal arthrogryp... |
OMIM:618975 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hydronephrosis, Hypoplasia of penis, Camptodactyly of finger |
ORPHA:2083 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia |
OMIM:617661 |
| Indomethacin Embryofetopathy |
|
Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency |
ORPHA:1909 |
| Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Obesity |
OMIM:600151 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level |
OMIM:612126 |
| Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis |
ORPHA:3033 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Splenomegaly, Absent circulating B cells, Generalized lymphadenopathy, Hypertriglyc... |
OMIM:620282 |
| Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Umbilical hernia, Lymphopenia, Eosinophilia... |
OMIM:617237 |
| Uremic Pruritus |
|
Chronic kidney disease, Renal hypophosphatemia, Hypermagnesemia, Stage 5 chronic kidney disease, ... |
ORPHA:94059 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the urinary system, Abnormality of the ureter, Congenital diaphragmatic hernia, Re... |
ORPHA:1834 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Failure to thrive, Dicarboxylic aciduria, Hyperamm... |
OMIM:212140 |
| Joubert Syndrome 3 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
| Diabetic Embryopathy |
|
Hydronephrosis, Ureteral duplication, Micropenis, Renal hypoplasia/aplasia |
ORPHA:1926 |
| Meckel Syndrome, Type 1 |
|
Accessory spleen, Malformation of the hepatic ductal plate, Elevated amniotic fluid alpha-fetopro... |
OMIM:249000 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydronephrosis, Hydroureter, Fetal megacystis |
OMIM:619362 |
| Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Hydronephrosis, Failure to thrive |
ORPHA:488613 |
| Alagille Syndrome 1 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Failure to thrive, Multiple small medullary... |
OMIM:118450 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flex... |
OMIM:248370 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... |
OMIM:238600 |
| Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Failure to thri... |
OMIM:300972 |
| Legius Syndrome |
|
Nephroblastoma, Male urethral meatus stenosis, Nephrolithiasis |
ORPHA:137605 |
| Phelan-Mcdermid Syndrome |
|
Cellulitis, Vesicoureteral reflux, Polycystic kidney dysplasia, Abnormality of the kidney |
OMIM:606232 |
| Johanson-Blizzard Syndrome |
|
Failure to thrive, Hydronephrosis, Hypoplasia of penis, Hypospadias, Hypoproteinemia |
ORPHA:2315 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia |
OMIM:613091 |
| Kanzaki Disease |
|
Aminoaciduria, Increased urinary O-linked sialopeptides |
OMIM:609242 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Urinary incontinence, Foot dorsiflexor weakness, Skeletal muscle atrophy, Urinary retention |
OMIM:616586 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Idiopathic Hypereosinophilic Syndrome |
|
Portal fibrosis, Failure to thrive, Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis,... |
ORPHA:3260 |
| Igg4-Related Pachymeningitis |
|
Nephritis, Lymphadenitis, Eosinophilia, Pancreatitis, Elevated circulating C-reactive protein con... |
ORPHA:449427 |
| Intellectual Disability, Buenos-Aires Type |
|
Hydronephrosis, Reduced bone mineral density, Umbilical hernia |
ORPHA:3079 |
| Cholestasis-Lymphedema Syndrome |
|
Neonatal cholestatic liver disease, Splenomegaly, Hyperlipidemia, Cirrhosis, Hepatomegaly, Jaundi... |
OMIM:214900 |
| Coach Syndrome 1 |
|
Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Abnormal abdomen morphology, Multi... |
OMIM:216360 |
| Silver-Russell Syndrome 1 |
|
Abnormality of the ureter, Nephroblastoma, Urethral valve, Hypospadias, Congenital posterior uret... |
OMIM:180860 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun... |
OMIM:617514 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypospadias, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... |
OMIM:619041 |
| Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Epiphyseal stippling, Hydronephrosis, Anterior rib punctate calcifications, Scarring alopecia of ... |
ORPHA:35173 |
| Enamel-Renal Syndrome |
|
Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren... |
ORPHA:1031 |
| Leprechaunism |
|
Nephrocalcinosis, Long penis, Failure to thrive, Hyperaldosteronism, Reduced subcutaneous adipose... |
ORPHA:508 |
| Caudal Regression Syndrome |
|
Renal agenesis, Decreased muscle mass, Abnormality of the ureter, Renal insufficiency, Vesicouret... |
ORPHA:3027 |
| Bladder Exstrophy And Epispadias Complex |
|
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias |
OMIM:600057 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Failure to thrive, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Low plasma citrulline, Elev... |
OMIM:311250 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
| Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
| Orthostatic Hypotension 1 |
|
Elevated circulating dihydroxyphenylacetic acid concentration, Hypomagnesemia, Increased blood ur... |
OMIM:223360 |
| Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Enuresis, Achalasia |
ORPHA:289483 |
| East Syndrome |
|
Abnormal urinary electrolyte concentration, Renal magnesium wasting, Lower limb muscle weakness, ... |
ORPHA:199343 |
| Pure Autonomic Failure |
|
Urinary incontinence, Dysuria |
ORPHA:441 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Urethral obstruction, Renal hypoplasia, Urinary bladder wall hypertrophy, Omphalocele, Renal dysp... |
OMIM:601389 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Renal steatosis, Low plasma citrulline, Ketonuria |
OMIM:261680 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous... |
OMIM:271500 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of the urinary system, Abnormal cortical bone morphology, Splenomegaly, Hepatomegaly,... |
ORPHA:2204 |
| Loeffler Endocarditis |
|
Eosinophilia, Weight loss, Left ventricular hypertrophy |
ORPHA:75566 |
| 9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis, Craniosynostosis |
ORPHA:531151 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Horseshoe kidney, Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, D... |
ORPHA:508533 |
| Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess, Sterile abscess |
OMIM:618282 |
| Gaucher Disease Type 1 |
|
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Hematuria, Cirrhosis, Hepatomegaly, Elevated cir... |
ORPHA:77259 |
| Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Posterolateral d... |
OMIM:194080 |
| Immunodeficiency 25 |
|
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia |
OMIM:610163 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Increased mean corpuscular volume, Horseshoe kidney, Vesicoureteral reflux, Macrocyti... |
OMIM:612562 |
| Hypoplasminogenemia |
|
Nephrolithiasis |
ORPHA:722 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Unconjugated hyperbilirubinemia, Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz... |
OMIM:300908 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Esophagitis, Joint hypermobility, Hydronephrosis, Decreased serum zinc, Duplicated collecting system |
ORPHA:541423 |
| Insulin-Resistance Syndrome Type B |
|
Hypoalbuminemia, Nephritis, Pneumonia, Hypotriglyceridemia, Glycosuria, Abnormal circulating lipi... |
ORPHA:2298 |
| 22Q11.2 Deletion Syndrome |
|
Renal hypoplasia, Cholelithiasis, Failure to thrive, Multiple suture craniosynostosis, Umbilical ... |
ORPHA:567 |
| Wolfram Syndrome 1 |
|
Hydronephrosis, Neurogenic bladder, Hydroureter |
OMIM:222300 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Abnormal circulating lipid conce... |
ORPHA:186 |
| Alexander Disease Type Ii |
|
Limb muscle weakness, Urinary bladder sphincter dysfunction |
ORPHA:363722 |
| Tafro Syndrome |
|
Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Hepatomegaly, Lymph... |
ORPHA:457077 |
| Glutaric Acidemia I |
|
Glutaric aciduria, Elevated circulating glutaric acid concentration, Failure to thrive, Ketonuria |
OMIM:231670 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Portal fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Por... |
OMIM:616278 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Hepatomegaly, H... |
OMIM:615234 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Stage 5 chronic kidney disease, Hyperalaninemia, Failure to thrive, Lacticaciduria |
OMIM:618250 |
| Esophagitis, Eosinophilic, 2 |
|
Eosinophilia, Failure to thrive |
OMIM:613412 |
| Esophagitis, Eosinophilic, 1 |
|
Eosinophilia, Failure to thrive |
OMIM:610247 |
| Meckel Syndrome 14 |
|
Hepatic fibrosis, Polycystic kidney dysplasia, Decreased calvarial ossification |
OMIM:619879 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Hematuria, Joint hemorrhage, Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
| Holocarboxylase Synthetase Deficiency |
|
Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, Skin rash, Hyperammonemia, 3-hy... |
OMIM:253270 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Micropenis, Slender build, Hydronephrosis, Joint hypermobility |
ORPHA:364028 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Bifid ureter, Large for gestational age, Transient neutropenia, Ing... |
ORPHA:500095 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
| Trisomy 13 |
|
Abnormality of the ureter, Displacement of the urethral meatus, Hydronephrosis, Hernia, Multiple ... |
ORPHA:3378 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis |
OMIM:300048 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
| Erdheim-Chester Disease |
|
Osteomyelitis, Xanthelasma, Renal insufficiency, Skin rash, Hydronephrosis, Weight loss, Increase... |
ORPHA:35687 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th... |
ORPHA:848 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal cyst, Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:611773 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Pneumonia, Decreased urinary urate, Failure to thrive, Recurrent urinary tract infe... |
OMIM:613179 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
| Toluene Embryopathy |
|
Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
| Babesiosis |
|
Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolyti... |
ORPHA:108 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... |
OMIM:619375 |
| Mody |
|
Nephropathy, Glycosuria, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Obesity, Abnor... |
ORPHA:552 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Dilatation of the renal pelvis, Horseshoe kidney, Hepatosplenomegaly, Vesicoureteral reflux, Leuk... |
OMIM:274000 |
| Alg9-Cdg |
|
Periportal fibrosis, Hypoplasia of the bladder, Abnormal renal artery morphology, Hepatic cysts, ... |
ORPHA:79328 |
| X-Linked Intellectual Disability, Armfield Type |
|
Aminoaciduria, Galactosuria, Organic aciduria, Limited elbow extension, Inguinal hernia |
ORPHA:85276 |
| Osteogenesis Imperfecta, Type X |
|
Nephrolithiasis |
OMIM:613848 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Decreased circulating carnitine concentration, Dicarboxylic aciduria, Exercise-induced myoglobinu... |
OMIM:201475 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Hydroureter, Ureteral stenosis, Hydronephrosis, Micropenis, Hypospadias |
OMIM:269150 |
| Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary norepinephrine level, Elevated urinary vanillylmandelic acid, Nephrolithiasis, E... |
ORPHA:653 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Foot acroosteolysis, Failure to thrive, Umbilical hernia, Inguinal hernia, Renal cyst... |
OMIM:102500 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... |
OMIM:614470 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Failure to thrive, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, J... |
ORPHA:79301 |
| Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Lacticaciduria |
OMIM:618247 |
| Ogden Syndrome |
|
Polycythemia, Umbilical hernia, Hyperbilirubinemia, Inguinal hernia, Microvesicular hepatic steat... |
OMIM:300855 |
| Narcolepsy Type 1 |
|
Nocturia |
ORPHA:2073 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Hyperammonemia, Elevated cir... |
OMIM:609015 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism |
OMIM:183350 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Failure to thrive in infancy, Renal insufficiency, Hydronephrosis, Camptodactyly, Hyp... |
OMIM:611209 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... |
OMIM:267700 |
| Leishmaniasis |
|
Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Hepatome... |
ORPHA:507 |
| Liver Disease, Severe Congenital |
|
Recurrent otitis media, Hyperbilirubinemia, Hypospadias, Hypoproteinemia, Aminoaciduria, Eczemato... |
OMIM:619991 |
| Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr... |
OMIM:616050 |
| 22Q11.2 Duplication Syndrome |
|
Hydronephrosis, Urethral stenosis, Displacement of the urethral meatus |
ORPHA:1727 |
| Cyclic Neutropenia |
|
Cellulitis, Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Per... |
ORPHA:2686 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Cellulitis, Splenomegaly, Decreased proportion of class-switched memory B cells, Increased propor... |
OMIM:615513 |
| Joubert Syndrome 18 |
|
Horseshoe kidney, Renal cyst, Intrahepatic biliary atresia, Camptodactyly |
OMIM:614815 |
| Immunodeficiency 114, Folate-Responsive |
|
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... |
OMIM:620603 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Weight loss, Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Thyroiditis |
ORPHA:79078 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Cellulitis, Osteopenia, Eosinophilia, Craniosynostosis |
ORPHA:2314 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... |
OMIM:619658 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Distal amyotrophy, Lower limb muscle weakness, Camptodactyly, Flexion contracture, Urinary urgency |
OMIM:275900 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hypocalcemia, Hydronephros... |
ORPHA:2237 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Pancreatitis, Renal insufficiency, Hyperammonemia |
ORPHA:27 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Osteopenia, Hepatic fibrosis, Proximal tubulopathy, Failure to thrive, Hypochole... |
OMIM:212065 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... |
OMIM:308240 |
| Prader-Willi Syndrome |
|
Osteopenia, Class III obesity, Decreased HDL cholesterol concentration, Failure to thrive in infa... |
OMIM:176270 |
| Orofaciodigital Syndrome Xvii |
|
Micropenis, Renal hypoplasia, Decreased body weight |
OMIM:617926 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Abnormality of iron homeostasis, Splenomegaly |
ORPHA:75563 |
| Kury-Isidor Syndrome |
|
Hydronephrosis, Recurrent otitis media |
OMIM:619762 |
| Frontometaphyseal Dysplasia 1 |
|
Ankle flexion contracture, Hydroureter, Interphalangeal joint contracture of finger, Partial fusi... |
OMIM:305620 |
| Kleefstra Syndrome |
|
Limitation of joint mobility, Tracheomalacia, Obesity, Vesicoureteral reflux, Renal insufficiency... |
ORPHA:261494 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Trisomy 1Q |
|
Multicystic kidney dysplasia, Camptodactyly of finger, Congenital diaphragmatic hernia, Hydroneph... |
ORPHA:261344 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... |
OMIM:224120 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Urinary bladder sphincter dysfun... |
ORPHA:52430 |
| Ritscher-Schinzel Syndrome 1 |
|
Hydronephrosis, Hypospadias |
OMIM:220210 |
| Meacham Syndrome |
|
Accessory spleen, Aplasia of the right hemidiaphragm, Horseshoe kidney, Enlarged kidney, Aplasia ... |
OMIM:608978 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Trisomy 20P |
|
Camptodactyly of finger, Umbilical hernia, Abnormality of the ureter, Reduced bone mineral densit... |
ORPHA:261318 |
| Microsporidiosis |
|
Lymphadenitis, Urethritis, Abnormality of the urinary system physiology, Keratoconjunctivitis, Ca... |
ORPHA:2552 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi... |
OMIM:266200 |
| Glycogen Storage Disease Ic |
|
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Xanthelasma, Decreased g... |
OMIM:232240 |
| Free Sialic Acid Storage Disease |
|
Ascites, Failure to thrive in infancy, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic syndrom... |
ORPHA:834 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Failu... |
ORPHA:71212 |
| Pudendal Neuralgia |
|
Dysuria, Pollakisuria |
ORPHA:60039 |
| Czeizel-Losonci Syndrome |
|
Abnormality of the urinary system, Ureteral agenesis, Hydronephrosis, Congenital megaureter, Post... |
ORPHA:2437 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Hydronephrosis, Recurrent pneumonia, Failure to thrive |
OMIM:619179 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequ... |
OMIM:612714 |
| Melnick-Needles Syndrome |
|
Hydronephrosis, Ureteral stenosis |
OMIM:309350 |
| Carpenter Syndrome 1 |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Joint contracture of the hand, Hydroureter... |
OMIM:201000 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Dicarboxylic aciduria, Hyperbilirubinemia, 3-hydroxydicarboxylic aciduria, Lacti... |
OMIM:613070 |
| Branchioskeletogenital Syndrome |
|
Micropenis, Penoscrotal hypospadias, Bladder exstrophy, Ureteral stenosis |
ORPHA:1299 |
| Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Renal cyst, Multiple renal cysts, Failure to thrive |
OMIM:614883 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... |
ORPHA:99901 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... |
ORPHA:98870 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... |
OMIM:618398 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia, Coronal craniosynostosis, Joint contracture of the hand, Erysipelas, Umbilical h... |
OMIM:235510 |
| Distal Deletion 12Q |
|
Congenital hypertrophy of left ventricle, Annular pancreas, Elbow flexion contracture, Failure to... |
ORPHA:96149 |
| Encephalocraniocutaneous Lipomatosis |
|
Subcutaneous lipoma, Hydronephrosis, Multiple central nervous system lipomas, Lipoma, Pelvic kidney |
OMIM:613001 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Renal agenesis, Polysplenia, Abdominal situs inversus, Horseshoe kidney, Failure to thrive, Bilia... |
OMIM:306955 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Ectopic kidney, Cystic renal dysplasia |
OMIM:613730 |
| Zellweger Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive, Epiphyseal stippling, Hydronephrosis, Hypospadias |
ORPHA:912 |
| Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Obesity, Cholecystitis, Sclerosing c... |
ORPHA:69663 |
| Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter |
ORPHA:1035 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Giant cell hepatitis, Rickets, Failure to thrive, Hypocholesterolemia, ... |
OMIM:607765 |
| Schwartz-Jampel Syndrome |
|
Abnormality of the urinary system, Skeletal muscle atrophy, Shoulder flexion contracture, Skeleta... |
ORPHA:800 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Reduced natural killer cell count, Cutaneous abscess, Failure to thrive, Decreased proportion of ... |
OMIM:243700 |
| Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Ascites, Epiphyseal stippling, Increased urinar... |
OMIM:256550 |
| Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... |
ORPHA:79477 |
| Vacterl/Vater Association |
|
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Congenital diaphragmati... |
ORPHA:887 |
| Aredyld Syndrome |
|
Craniofacial hyperostosis, Abnormal dental enamel morphology, Abnormality of the ureter, Splenome... |
ORPHA:1133 |
| Joubert Syndrome 39 |
|
Overweight, Polycystic kidney dysplasia, Joint contracture of the 5th finger |
OMIM:619562 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Hydronephrosis, Limb joint contracture |
OMIM:620327 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Failure to thrive, Decreased adipose tissue around neck, Absence of subcutaneous fat, Reduced sub... |
OMIM:606721 |
| Developmental And Epileptic Encephalopathy 50 |
|
Oroticaciduria, Renal tubular acidosis, Hyperammonemia, Failure to thrive |
OMIM:616457 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome... |
OMIM:613839 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content |
OMIM:261750 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia, Hepatic cysts, Delayed ossification of carpal bones |
OMIM:617425 |
| Renal Agenesis |
|
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... |
ORPHA:411709 |
| Zaki Syndrome |
|
Hydronephrosis, Congenital diaphragmatic hernia, Renal agenesis |
OMIM:619648 |
| Amyloidosis, Finnish Type |
|
Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom... |
OMIM:105120 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Nephritis, Renal insufficiency, Early ossification of capital femoral epi... |
OMIM:208500 |
| Cenani-Lenz Syndactyly Syndrome |
|
Renal hypoplasia, Renal agenesis, Radioulnar synostosis, Enamel hypoplasia, Ectopic kidney, Metac... |
OMIM:212780 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:618852 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Proximal tubulopathy, Failure to thrive, Hyperechogenic kidneys, Chole... |
OMIM:614576 |
| Tuberous Sclerosis Complex |
|
Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Pulmo... |
ORPHA:805 |
| Gabriele-De Vries Syndrome |
|
Hydronephrosis, Ureteropelvic junction obstruction |
OMIM:617557 |
| Malakoplakia |
|
Urinary bladder inflammation, Urinary hesitancy, Hematuria, Proteinuria, Dysuria, Urinary urgency |
ORPHA:556 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Inguinal hernia, Hypocalcemia, Hydronephrosis, Micropenis, Hypoproteinemia |
OMIM:235255 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Umbilical hernia, Inguinal hernia, Joint hypermobility, Hydronephrosis, Wrist flexion contracture... |
ORPHA:254528 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Multicystic kidney dysplasia, Increased mean corpusc... |
OMIM:619774 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Multiple renal cysts, Congenital diaphragmatic hernia, Renal hypoplasia/ap... |
ORPHA:1166 |
| Majeed Syndrome |
|
Failure to thrive, Leukocytosis, Splenomegaly, Proteinuria, Glomerulopathy, Cachexia, Weight loss... |
ORPHA:77297 |
| Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Urinary urgency |
OMIM:619286 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula... |
OMIM:194380 |
| Koolen-De Vries Syndrome |
|
Abnormal dental enamel morphology, Vesicoureteral reflux, Renal duplication, Joint hypermobility,... |
ORPHA:96169 |
| Lymphoproliferative Syndrome 1 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... |
OMIM:613011 |
| Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Reduced circulating alpha-1-antitrypsin concentration, Splenomegaly, Hepatocellular ca... |
OMIM:613490 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,... |
OMIM:615160 |
| Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
| Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Increased bone mineral density |
ORPHA:37748 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hyperammonemia, Elevated circulating creatine kinase concentration, Myoglobinuria, Increased circ... |
OMIM:620300 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary... |
OMIM:619743 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation, Osteopetrosis |
OMIM:618541 |
| Vater/Vacterl Association |
|
Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstruction, Hydronephrosis, Ectopi... |
OMIM:192350 |
| Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys |
OMIM:612651 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Immunodeficiency 48 |
|
Failure to thrive, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with p... |
OMIM:269840 |
| Hoxha-Aliu Syndrome |
|
Osteopenia, Vesicoureteral reflux, Inguinal hernia, Hydronephrosis, Contracture of the proximal i... |
OMIM:620662 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t... |
ORPHA:64743 |
| Khan-Khan-Katsanis Syndrome |
|
Renal hypoplasia, Failure to thrive, Corneal scarring, Vesicoureteral reflux, Hydronephrosis, Ren... |
OMIM:618460 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin conc... |
ORPHA:540 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit... |
OMIM:235700 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... |
ORPHA:159 |
| Hemochromatosis, Type 2A |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... |
OMIM:602390 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Pancytopenia, Increased serum bile acid concentration, Impaired neutrophil chemo... |
ORPHA:811 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Failure to thrive, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalaninemia, Increased s... |
OMIM:619046 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Cellulitis, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Glomerulopathy, Lipodystrophy, P... |
ORPHA:2348 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity... |
ORPHA:209902 |
| Roberts Syndrome |
|
Long penis, Knee flexion contracture, Wrist flexion contracture, Progressive flexion contractures... |
ORPHA:3103 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Renal hypoplasia, Ureteral stenosis |
OMIM:270100 |
| Joubert Syndrome 6 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
| Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Osteopenia, Increased mean corpuscular volume, Persistence of hemogl... |
OMIM:618849 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure... |
OMIM:618534 |
| Adrenoleukodystrophy |
|
Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction |
OMIM:300100 |
| Pfeiffer Syndrome Type 3 |
|
Limitation of joint mobility, Tracheomalacia, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... |
ORPHA:93260 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypocalcemia, Inguinal hernia, Hydronephrosis, Abnormal renal morphology, Micropenis, Hypoprotein... |
ORPHA:1655 |
| Porphyria, Acute Intermittent |
|
Urinary incontinence, Elevated urinary delta-aminolevulinic acid, Dysuria, Urinary retention |
OMIM:176000 |
| Xeroderma Pigmentosum |
|
Aminoaciduria, Craniofacial hyperostosis, Keratitis, Failure to thrive, Blepharitis |
ORPHA:910 |
| Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
| Mucoepithelial Dysplasia, Hereditary |
|
Hematuria, Eosinophilia |
OMIM:158310 |
| Spinal Cord Injury |
|
Urinary retention, Urinary bladder sphincter dysfunction |
ORPHA:90058 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Orofaciodigital Syndrome I |
|
Hepatic fibrosis, Hepatic cysts, Ovarian cyst, Proteinuria, Enamel hypoplasia, Pancreatic cysts, ... |
OMIM:311200 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... |
ORPHA:2461 |
| Genitopalatocardiac Syndrome |
|
Renal cyst, Hypospadias |
OMIM:231060 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Splen... |
ORPHA:158061 |
| 15q26 overgrowth syndrome |
|
Duplication of renal pelvis, Renal agenesis, Camptodactyly of finger, Horseshoe kidney, Vesicoure... |
DECIPHER:81 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reduced hapto... |
OMIM:611881 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, Lymphadenopathy |
OMIM:611762 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Cholelithiasis, Rickets, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cho... |
OMIM:211600 |
| Netherton Syndrome |
|
Hypereosinophilia, Failure to thrive |
OMIM:256500 |
| Noonan Syndrome 4 |
|
Hydronephrosis, Ureteral duplication, Large for gestational age |
OMIM:610733 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Splenomegaly, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia |
OMIM:615085 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2522 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Branchio-Oculo-Facial Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Atypical scarring of skin, Renal agenesis |
ORPHA:1297 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly, Abnormal urinary color |
ORPHA:90037 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Multiple renal cysts |
ORPHA:66637 |
| Mckusick-Kaufman Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive, Glandular hypospadias, Renal hypoplasia/aplasia,... |
ORPHA:2473 |
| Kabuki Syndrome |
|
Abnormal localization of kidney, Crossed fused renal ectopia, Ureteropelvic junction obstruction,... |
ORPHA:2322 |
| Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Increased circu... |
ORPHA:829 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Ureteral agenesis, Renal cyst, Arthrogryposis multiplex congenita, Renal dysplasia |
OMIM:236500 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Bone marrow hypocellularity, Nephrocalcinosis, Infection associated neutropenia, Renal insufficie... |
ORPHA:445038 |
| Spinocerebellar Ataxia 10 |
|
Urinary incontinence, Urinary urgency |
OMIM:603516 |
| Cerebellar-Facial-Dental Syndrome |
|
Hydronephrosis, Ureteropelvic junction obstruction |
ORPHA:444072 |
| Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cyst, Multiple lipomas, Renal cell carcinoma |
OMIM:135150 |
| Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:79126 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Hydronephrosis, Neurogenic bladder, Failure to thrive, Elevated circulating creatine kinase conce... |
OMIM:608779 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Hepatic steatosis, Renal cyst, Hep... |
OMIM:614922 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Knee flexion contracture, Hip contracture, Hydronephrosis, Radiouln... |
ORPHA:85201 |
| Spinocerebellar Ataxia Type 13 |
|
Urinary incontinence, Urinary urgency, Torticollis |
ORPHA:98768 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Renal hypoplasia, Shoulder flexion contracture, Failure to thriv... |
OMIM:210710 |
| Micro Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Hypoplasia of penis, Joint stiffness |
ORPHA:2510 |
| Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff... |
ORPHA:93111 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Hydronephrosis, Craniosynostosis |
ORPHA:457193 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Left ventricular hypertrophy, Leukocytosis, Hypercholesterolemia |
ORPHA:90065 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Urinary urgency |
OMIM:609270 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... |
OMIM:603553 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Urban-Rogers-Meyer Syndrome |
|
Abnormality of the ureter, Hypoplasia of penis, Camptodactyly of finger, Flexion contracture of toe |
ORPHA:3409 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Crossed fused renal ectopia, Vesicoureteral reflux, Joint... |
OMIM:300707 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve... |
OMIM:301111 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Large for gestational age, Vesicoureteral reflux, Congenital diaphragmatic hernia, Hydronephrosis... |
OMIM:614080 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Lower limb muscle weakness, Ureteropelvic junction obstruction, Hydronephrosis, Neurogenic bladde... |
OMIM:616973 |
| Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Aplasia of the bladder, Elbow flexion contracture, Abnormality of the ureter, Con... |
OMIM:200980 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Hydronephrosis, Joint contracture of the hand, Camptodactyly, Micropenis |
OMIM:612513 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Ketonuria, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase concentration, Myogl... |
OMIM:251900 |
| Igg4-Related Submandibular Gland Disease |
|
Abnormal pancreas morphology, Renal insufficiency, Eosinophilia, Lymphadenopathy, Abnormality of ... |
ORPHA:449432 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Osteopenia, Limited elbow extension, Vesicoureteral reflux, Hydronephrosis, Finger joint hypermob... |
OMIM:620663 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Flexion contracture, Leg muscle stiffness, Spastic/hyperactive bladder, Generalized limb muscle a... |
ORPHA:137898 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Unilateral renal agenesis, Umbilical hernia, Elevated 8(9)-cholestenol, Epiphyseal stippling, Hyd... |
OMIM:308050 |
| Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Urinary urgency |
OMIM:601338 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Renal hypoplasia, Abdominal obesity, Micropenis, Flexion contracture, Azotemia |
OMIM:619321 |
| Microphthalmia, Lenz Type |
|
Hydroureter, Camptodactyly of finger, Renal hypoplasia/aplasia, Hydronephrosis, Hypospadias |
ORPHA:568 |
| Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly |
OMIM:616589 |
| Duane-Radial Ray Syndrome |
|
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral r... |
OMIM:607323 |
| X-Linked Adrenoleukodystrophy |
|
Neurogenic bladder, Leg muscle stiffness, Urinary bladder sphincter dysfunction |
ORPHA:43 |
| 1Q21.1 Microdeletion Syndrome |
|
Failure to thrive, Vesicoureteral reflux, Inguinal hernia, Joint hypermobility, Hydronephrosis |
ORPHA:250989 |
| Beta-Ketothiolase Deficiency |
|
Weight loss, Ketonuria, Hyperammonemia, Hyperuricemia |
ORPHA:134 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Urinary incontinence, Detrusor sphincter dyssynergia, Neurogenic bladder, Lower limb amyotrophy |
ORPHA:466722 |
| Urachal Cyst |
|
Hematuria, Pyuria, Dysuria, Urachus fistula |
ORPHA:488 |
| Pearson Syndrome |
|
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoplastic spleen,... |
ORPHA:699 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Failure to thrive, Umbilical hernia, Hyperammonemia, 3-Methylglutaconic aciduria, Inguinal hernia... |
OMIM:614052 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Generalized amyotrophy |
OMIM:601162 |
| Peroxisome Biogenesis Disorder 1B |
|
Hepatic fibrosis, Hyperoxaluria, Epiphyseal stippling, Renal cyst, Cirrhosis, Hepatomegaly |
OMIM:601539 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... |
OMIM:612840 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Micropenis, Hepatic fibrosis, Polycystic kidney dysplasia, Pancreatic fibrosis |
OMIM:263520 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... |
ORPHA:98848 |
| Visceral Myopathy 1 |
|
Hydronephrosis, Vesicoureteral reflux, Urinary retention, Megacystis |
OMIM:155310 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Loss of facial adipose tissue, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Hyperuricemia... |
ORPHA:79083 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
| Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
| Raine Syndrome |
|
Hydroureter, Hydronephrosis, Hypophosphatemia, Enamel hypoplasia, Subperiosteal bone formation, I... |
OMIM:259775 |
| Wiskott-Aldrich Syndrome |
|
Nephropathy, Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lympho... |
OMIM:301000 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Proteinuria, Renal hypoplasia, Tarsal synostosis, Renal insufficiency |
ORPHA:1307 |
| Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Coarse metaphyseal trabecularization, Camptodactyly of finger, Hors... |
ORPHA:2092 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
| Muckle-Wells Syndrome |
|
Nephropathy, Renal amyloidosis, Camptodactyly of finger, Splenomegaly, Hepatomegaly, Hernia of th... |
ORPHA:575 |
| Koolen-De Vries Syndrome |
|
Failure to thrive, Eczematoid dermatitis, Recurrent urinary tract infections, Vesicoureteral refl... |
OMIM:610443 |
| Orotic Aciduria |
|
Oroticaciduria, Hematuria, Failure to thrive, Orotic acid crystalluria |
OMIM:258900 |
| Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
| Iatrogenic Botulism |
|
Urinary retention |
ORPHA:254509 |
| Cinca Syndrome |
|
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protei... |
ORPHA:1451 |
| Biotinidase Deficiency |
|
Organic aciduria, Skin rash, Hyperammonemia, Seborrheic dermatitis, Conjunctivitis, Recurrent ski... |
OMIM:253260 |
| Bone Marrow Failure Syndrome 3 |
|
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Failure to thriv... |
OMIM:617052 |
| O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
| Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Renal hypoplasia, Bladder exstrophy, Horseshoe kidney, Abnormality of ... |
ORPHA:322 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypocalciuria, Enuresis, Renal sodium wasting, Polyuria, Renal salt wasting, Renal potassium wasting |
OMIM:612780 |
| Proteus Syndrome |
|
Long penis, Thymus hyperplasia, Lipoma, Cranial hyperostosis, Neoplasm of the thymus, Abnormal de... |
ORPHA:744 |
| Matthew-Wood Syndrome |
|
Renal hypoplasia, Failure to thrive, Horseshoe kidney, Vesicoureteral reflux, Congenital diaphrag... |
ORPHA:2470 |
| D-Bifunctional Protein Deficiency |
|
Osteopenia, Fetal ascites, Increased circulating very long-chain fatty acid concentration, Failur... |
OMIM:261515 |
| Mosaic Trisomy 8 |
|
Limitation of joint mobility, Camptodactyly of finger, Vesicoureteral reflux, Hydronephrosis, Art... |
ORPHA:96061 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hydronephrosis, Recurrent pneumonia, Hypospadias, Inguinal hernia |
OMIM:616449 |
| Meckel Syndrome, Type 10 |
|
Malformation of the hepatic ductal plate, Renal cyst, Camptodactyly, Micropenis, Hypospadias |
OMIM:614175 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Distal renal tubular acidosis, Renal tubular acidosis, Nephrolithiasis, Hydronephrosis, Proximal ... |
ORPHA:2785 |
| Microphthalmia, Syndromic 9 |
|
Renal hypoplasia, Horseshoe kidney, Congenital diaphragmatic hernia, Inguinal hernia, Hydronephro... |
OMIM:601186 |
| Wound Botulism |
|
Urinary retention |
ORPHA:178475 |
| Baller-Gerold Syndrome |
|
Failure to thrive in infancy, Abnormality of the ureter, Vesicoureteral reflux, Hydronephrosis, A... |
ORPHA:1225 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatitis, Recurrent otitis media, Elevated circulating creatine kinase concentration, Hydronephr... |
OMIM:614921 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Hyperammonemia, Elevated circulating creatine kinase concentration |
OMIM:212138 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Congenital diaphragmatic hernia |
OMIM:616546 |
| Cardiac-Urogenital Syndrome |
|
Accessory spleen, Congenital diaphragmatic hernia, Hepatopulmonary fusion, Penoscrotal hypospadia... |
OMIM:618280 |
| Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Knee flexion contracture, Elevated circulating cr... |
OMIM:618733 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... |
OMIM:617641 |
| 3C Syndrome |
|
Hydronephrosis, Hypoplasia of penis, Hypospadias, Inguinal hernia |
ORPHA:7 |
| Tangier Disease |
|
Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c... |
OMIM:205400 |
| Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Stage 5 chronic... |
OMIM:267010 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Lymphopenia, Splenomegaly, Hepatomegaly, Lipodystrophy, Lymphadenopathy, Throm... |
OMIM:617591 |
| Feingold Syndrome Type 1 |
|
Nephritis, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux, Hydronephrosis, Abnormal... |
ORPHA:391641 |
| Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Microphallus, Umbilical hernia, Vesicoureteral reflux, Congenital diaphragmatic... |
OMIM:618454 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrocalcinosis, Renal duplication, Nephrolithiasis, Hydronephrosis, Camptodactyly, Micropenis, ... |
OMIM:268310 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Renal hypoplasia, Umbilical hernia, Recurrent otitis media, Glue ear, Absence of renal corticomed... |
OMIM:619758 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Recurrent urinary tract infections, Decreased CD4:CD8 ratio, Splenomegaly, Aut... |
OMIM:618495 |
| Griscelli Syndrome |
|
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop... |
ORPHA:381 |
| Amish Lethal Microcephaly |
|
Osteoporosis, Limitation of joint mobility, Organic aciduria, Decreased skull ossification |
ORPHA:99742 |
| Verheij Syndrome |
|
Renal cyst, Renal hypoplasia, Small for gestational age, Renal agenesis |
OMIM:615583 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent pneumonia, Multiple bladder diverticula, Urethral diverticulum, Recurrent urinary tract... |
ORPHA:90349 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomeg... |
OMIM:618935 |
| Renal And Mullerian Duct Hypoplasia |
|
Horseshoe kidney, Anteriorly displaced urethral meatus, Renal hypoplasia |
OMIM:266810 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... |
OMIM:620367 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Ketonuria, Glycosuria, Failure to thrive, Renal tubular dysfunction, Abnorm... |
ORPHA:99885 |
| Tarp Syndrome |
|
Horseshoe kidney, Hydronephrosis, Failure to thrive |
OMIM:311900 |
| 12Q14 Microdeletion Syndrome |
|
Renal hypoplasia, Failure to thrive, Horseshoe kidney, Osteopoikilosis, Ectopic kidney |
ORPHA:94063 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Truncal obes... |
OMIM:615812 |
| Schinzel-Giedion Syndrome |
|
Abnormality of the ureter, Nephroblastoma, Nephrolithiasis, Hydronephrosis, Renal cyst, Camptodac... |
ORPHA:798 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Chronic kidney disease, Hyperbilirubinemia, Renal insufficiency, Hyperammonemia,... |
ORPHA:1667 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Hypercholesterolemia, Joint hypermobility |
ORPHA:2479 |
| 2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive, Camptodactyly of finger, Inguinal hernia, Hydron... |
ORPHA:261349 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Urinary incontinence, Pollakisuria, Urinary urgency, Lower limb hypertonia |
ORPHA:447753 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatic fibrosis, Lymphadenitis, Failure to thrive, Cholestasis, Vesicoureteral reflux, Splenomeg... |
OMIM:615895 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
| Cold Agglutinin Disease |
|
Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia |
ORPHA:56425 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume |
OMIM:620044 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Enlarged kidney, Ascites |
OMIM:261740 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydronephrosis, Ureteral triplication, Umbilical hernia |
OMIM:104350 |
| Wolman Disease |
|
Ascites, Splenomegaly, Hepatomegaly, Cachexia, Anemia, Bone-marrow foam cells, Steatorrhea |
ORPHA:75233 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia, Increased b... |
OMIM:611490 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Papillary renal cell carcinoma, Hypercholesterolemia, Lipoatrophy, Hypertriglyceridemia |
ORPHA:363618 |
| Immunodeficiency 89 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Decreased eosinophil count, Hypochromic mi... |
OMIM:619632 |
| Vacterl Association With Hydrocephalus |
|
Radial club hand, Renal hypoplasia |
OMIM:276950 |
| Autosomal Recessive Spastic Paraplegia Type 20 |
|
Hydronephrosis, Dysuria, Joint hypermobility |
ORPHA:101000 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Generalized muscular appearance from birth, Nephrolithiasis |
OMIM:608594 |
| Takenouchi-Kosaki Syndrome |
|
Unilateral renal agenesis, Inguinal hernia, Hydronephrosis, Camptodactyly, Hypospadias |
OMIM:616737 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Renal agenesis, Persisten... |
ORPHA:124 |
| Zimmermann-Laband Syndrome 1 |
|
Long penis, Nephrolithiasis |
OMIM:135500 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Failure to thrive, Joint stiffness, Hydronephrosis, Abnormality of the upper urinary... |
ORPHA:2995 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Decreased urinary urate |
ORPHA:760 |
| Goodpasture Syndrome |
|
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... |
OMIM:233450 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Hydronephrosis, Micropenis, Joint hypermobility |
OMIM:617798 |
| Inhalational Botulism |
|
Urinary retention |
ORPHA:254504 |
| Fanconi Anemia, Complementation Group I |
|
Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Decreased body weight, Abnormal renal ... |
OMIM:609053 |
| Legionnaires Disease |
|
Cellulitis, Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegal... |
ORPHA:549 |
| Autosomal Recessive Spastic Paraplegia Type 9B |
|
Pollakisuria, Urinary retention, Skeletal muscle atrophy |
ORPHA:447760 |
| Spinocerebellar Ataxia Type 42 |
|
Urinary incontinence, Urinary urgency |
ORPHA:458803 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepa... |
OMIM:601847 |
| Joubert Syndrome 2 |
|
Renal cyst, Nephronophthisis, Renal insufficiency, Failure to thrive |
OMIM:608091 |
| Zygomycosis |
|
Cellulitis, Nephritis, Hepatitis, Fasciitis, Osteolysis, Renal insufficiency, Infectious encephal... |
ORPHA:73263 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Failure to thrive, Pancytopenia, Splenomegaly, Hypocalcemia, Hepatomegaly, Osteopetrosis, Thrombo... |
OMIM:259700 |
| Acute Intermittent Porphyria |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Urinary retenti... |
ORPHA:79276 |
| Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp... |
OMIM:603903 |
| Incontinentia Pigmenti |
|
Umbilical hernia, Abnormal dental enamel morphology, Camptodactyly of finger, Eosinophilia, Osteo... |
ORPHA:464 |
| Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the ureter, Abnormality of the ... |
ORPHA:2869 |
| Thakker-Donnai Syndrome |
|
Hydronephrosis, Cervical C2/C3 vertebral fusion, Congenital diaphragmatic hernia |
ORPHA:1780 |
| Felty Syndrome |
|
Cellulitis, Bone marrow hypocellularity, Recurrent urinary tract infections, Abnormal lymphocyte ... |
ORPHA:47612 |
| Gitelman Syndrome |
|
Hypocalciuria, Enuresis, Renal magnesium wasting, Rhabdomyolysis, Polyuria, Nocturia, Renal potas... |
OMIM:263800 |
| Hardikar Syndrome |
|
Hypoplasia of the bladder, Hydroureter, Failure to thrive, Recurrent urinary tract infections, Um... |
OMIM:301068 |
| Mosaic Trisomy 9 |
|
Limitation of joint mobility, Camptodactyly of finger, Horseshoe kidney, Hydronephrosis, Multiple... |
ORPHA:99776 |
| Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... |
OMIM:616649 |
| Campomelic Dysplasia |
|
Tracheomalacia, Hydronephrosis, Poorly ossified cervical vertebrae, Tracheobronchomalacia, Recurr... |
ORPHA:140 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Failure to thrive, Umbilical hernia, Abnormal circulating thyroglobu... |
ORPHA:90674 |
| Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoi... |
ORPHA:231226 |
| Braddock-Carey Syndrome 1 |
|
Camptodactyly, Multicystic kidney dysplasia, Enamel hypoplasia, Thrombocytopenia |
OMIM:619980 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Joint stiffness, Infectious encephalitis, Hydronephrosis, Abn... |
ORPHA:847 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Ascites, ... |
OMIM:235200 |
| Fatal Familial Insomnia |
|
Urinary retention |
OMIM:600072 |
| Mckusick-Kaufman Syndrome |
|
Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula |
OMIM:236700 |
| Fryns Syndrome |
|
Multicystic kidney dysplasia, Vesicoureteral reflux, Congenital diaphragmatic hernia, Hydronephro... |
ORPHA:2059 |
| Spinocerebellar Ataxia Type 10 |
|
Urinary urgency |
ORPHA:98761 |
| Meckel Syndrome 12 |
|
Arthrogryposis multiplex congenita, Renal hypoplasia, Ureteral hypoplasia, Bilateral renal agenesis |
OMIM:616258 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Failure to thrive, Vesicoureteral reflux, Abnormal bladder morphology, Hydronephrosis... |
ORPHA:453499 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Unilateral renal agenesis, Hypospadias, Ankle flexion contracture, Failure to thrive, Hydronephro... |
ORPHA:464311 |
| Spinocerebellar Ataxia 2 |
|
Urinary incontinence, Distal amyotrophy, Urinary bladder sphincter dysfunction |
OMIM:183090 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Pelvis-Shoulder Dysplasia |
|
Hydronephrosis, Camptodactyly of finger |
ORPHA:2839 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Umbilical hernia, Splenomegaly, Hepatic steatosis, Nephrolithiasis, Polycystic ovaries, Cystic an... |
OMIM:269700 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Jaun... |
OMIM:235555 |
| Cat Eye Syndrome |
|
Renal agenesis, Umbilical hernia, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis |
OMIM:115470 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Renal atrophy, Vesicoureteral reflux, Hypospadias, Joint hypermobility |
OMIM:618659 |
| Say Syndrome |
|
Cystic renal dysplasia, Proximal renal tubular acidosis |
OMIM:181180 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating acylcarnitine concentration, Ketonuria, Hyperammonemia, Elevated circulating... |
OMIM:616878 |
| Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... |
OMIM:614527 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:612653 |
| Angiostrongyliasis |
|
Hypereosinophilia |
ORPHA:74 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Peroneal muscle atrophy, Distal amyotrophy, Urinary urgency |
OMIM:270550 |
| Distal Deletion 10Q |
|
Acute kidney injury, Functional abnormality of the bladder, Horseshoe kidney, Vesicoureteral refl... |
ORPHA:96148 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Enuresis, Renal agenesis, Grade III vesicoureteral reflux, Ureteropelvic junction obstruction, Ur... |
OMIM:619522 |
| Beta-Thalassemia Major |
|
Hepatic fibrosis, Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoi... |
ORPHA:231214 |
| Oculoskeletodental Syndrome |
|
Renal agenesis, Elbow flexion contracture, Splenomegaly, Hypocalcemia, Hypercalciuria, Mucopolysa... |
OMIM:618440 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased adipose tissue around the neck, Decreased HDL cholesterol concentration, Increased faci... |
ORPHA:280365 |
| Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Pancreatitis, Lymphadenopathy, Abnormality of the kidney, Elevated circulating C-re... |
ORPHA:449563 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ketonuria, Lacticaciduria |
OMIM:619167 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Hydronephrosis, Abnormality of the urinary system, Micropenis, Contractures of the large joints |
ORPHA:96092 |
| Marburg Hemorrhagic Fever |
|
Hypoalbuminemia, Uveitis, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperam... |
ORPHA:99826 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Renal hypoplasia, Cranial hyperostosis, Splenomegaly, Nephroblastoma, Lipoma |
OMIM:612918 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Periostitis, Failure to thrive in infancy, Splenomegaly, Abscess, Elevated circulatin... |
OMIM:612852 |
| Joubert Syndrome 5 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu... |
OMIM:610188 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Recurrent pneumonia, Multiple bladder diverticula, Morgagni diaphragmatic hernia, Tra... |
OMIM:613177 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Osteopenia, Splenomegaly, Hepatomegaly |
OMIM:618107 |
| Neuhauser Syndrome |
|
Osteopenia, Hypercholesterolemia |
OMIM:249310 |
| Spherocytosis, Type 1 |
|
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... |
OMIM:182900 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Renal cyst, Elevated circulating ribitol concentration, Hepat... |
ORPHA:488618 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Failure to thrive, Recurrent urinary tract infections, Obesity, Truncal obesit... |
OMIM:615873 |
| Penile Agenesis |
|
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H... |
ORPHA:49 |
| Smith-Lemli-Opitz Syndrome |
|
Abnormal localization of kidney, Multicystic kidney dysplasia, Ureteropelvic junction obstruction... |
ORPHA:818 |
| Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
| Acute Adrenal Insufficiency |
|
Failure to thrive, Renal insufficiency, Hyperuricemia, Hyponatremia, Decreased circulating cortis... |
ORPHA:95409 |
| Fish-Eye Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
| Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Osteopenia, Dilatation of the renal pelvis, Failure to thrive, Increased circula... |
OMIM:619534 |
| Cranioectodermal Dysplasia 3 |
|
Joint hypermobility, Stage 5 chronic kidney disease, Sagittal craniosynostosis, Nephronophthisis |
OMIM:614099 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Facial hypotonia, Enuresis |
ORPHA:589821 |
| Immunodeficiency 10 |
|
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Splenomegaly, Amelogenesis imper... |
OMIM:612783 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Obesity, Vesicoureteral reflux, Inguinal hernia, Hydronephrosis, Micropenis, Pelvic kidney |
OMIM:618653 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Increased ... |
OMIM:602347 |
| Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... |
ORPHA:822 |
| Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Failure to thrive, Hyperammonemia, Hyperglutamatemia, Hyperprolinemi... |
ORPHA:3008 |
| Carey-Fineman-Ziter Syndrome |
|
Glandular hypospadias, Hydronephrosis |
ORPHA:1358 |
| Williams Syndrome |
|
Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Renal insufficiency, Vesi... |
ORPHA:904 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoalbuminemia, Unilateral renal agenesis, Renal hypoplasia, Duplicated collecting system, Renal... |
OMIM:270400 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Duplication of renal pelvis, Polysplenia, Umbilical hernia, Splenomegaly, Right ventricular hyper... |
OMIM:312870 |
| Pallister-Hall Syndrome |
|
Renal hypoplasia, Hydroureter, Distal urethral duplication, Hydronephrosis, Decreased circulating... |
OMIM:146510 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the ureter, Renal hypoplasia/aplasia |
ORPHA:1770 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice, Conjugated hyperbiliru... |
ORPHA:294 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Unilateral renal agenesis, Hypospadias, Failure to thrive, Eczematoid dermatitis, Multiple joint ... |
ORPHA:464306 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating acylcarnitine concentration, Ketonuria, Hyperammonemia, Elevated circulating... |
ORPHA:480864 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormality of the urinary system, Recurrent urinary tract infections, Vesicoureteral reflux, Nep... |
ORPHA:353281 |
| Floating-Harbor Syndrome |
|
Hypospadias, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Stage 5 chronic ki... |
ORPHA:2044 |
| Meckel Syndrome, Type 3 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Hepatom... |
OMIM:607361 |
| Lathosterolosis |
|
Elevated circulating lathosterol concentration, Horseshoe kidney, Hyperbilirubinemia, Hyperammone... |
OMIM:607330 |
| Bardet-Biedl Syndrome 6 |
|
Renal cyst, Obesity, Hypospadias |
OMIM:605231 |
| Mucopolysaccharidosis, Type Iiia |
|
Umbilical hernia, Heparan sulfate excretion in urine, Inguinal hernia, Splenomegaly, Hepatomegaly... |
OMIM:252900 |
| Polysyndactyly With Cardiac Malformation |
|
Renal cyst, Hepatic cysts |
OMIM:263630 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Elevated circulating palmitoleylcarnitine concentration, Ketonuria, Methylmalonic aciduria, Failu... |
ORPHA:79282 |
| Mungan Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:611376 |
| Apert Syndrome |
|
Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Coronal craniosynostosis, Synostosi... |
OMIM:101200 |
| Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Neonatal hyperbilirubinemia, Abnormal erythrocyte morphology, Con... |
ORPHA:288 |
| Campomelia, Cumming Type |
|
Multicystic kidney dysplasia, Abnormality of the pancreas, Multiple renal cysts, Hepatomegaly, Pa... |
ORPHA:1318 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Block vertebrae, Inguinal hernia, Hydronephrosis, Urethral atresia, Vertebral fusion |
OMIM:271520 |
| Cryoglobulinemic Vasculitis |
|
Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopat... |
ORPHA:91138 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperbilirubinemia, Hypocalcemia, Hydronephrosis, Micropenis, Hypospadias, Hyperextensibility of ... |
ORPHA:163979 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys |
OMIM:617914 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Hyperuricemia, Hypertriglyceridemia, Loss of gluteal subcuta... |
OMIM:604367 |
| Joubert Syndrome With Hepatic Defect |
|
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Congenital hepatic ... |
ORPHA:1454 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Hypoperistalsis, Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... |
OMIM:150550 |
| Parkinson Disease, Late-Onset |
|
Urinary urgency |
OMIM:168600 |
| Au-Kline Syndrome |
|
Chronic kidney disease, Dilatation of the renal pelvis, Failure to thrive, Vesicoureteral reflux,... |
OMIM:616580 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Renal cyst, Multicystic kidney dysplasia, Congenital hepatic fibrosis |
ORPHA:2031 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Failure to thrive, Hepatitis, Oroticaciduria, Abnormal circulating citrulline concentration, Hype... |
ORPHA:415 |
| Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
| Multiple System Atrophy 1, Susceptibility To |
|
Urinary incontinence, Skeletal muscle atrophy, Urinary urgency |
OMIM:146500 |
| Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
| Pulmonary Alveolar Microlithiasis |
|
Hematuria, Calcium nephrolithiasis |
ORPHA:60025 |
| Pseudo-Torch Syndrome 2 |
|
Abnormal renal corticomedullary differentiation |
OMIM:617397 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Flexion contracture, Enuresis, Hypospadias, Recurrent urinary tract infections |
OMIM:619293 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
3-Methylglutaric aciduria, Ketonuria, Hyperammonemia, Hyperuricemia, Weight loss, Acute pancreatitis |
ORPHA:20 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Cholelithiasis, Joint contracture of the hand, Atypical scarring of skin, Elevated ci... |
OMIM:263700 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia, Increased urinary glycerol |
ORPHA:348 |
| Botulism |
|
Urinary retention |
ORPHA:1267 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... |
OMIM:301078 |
| Cystic Fibrosis |
|
Nephrolithiasis |
ORPHA:586 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Hyperbilirubinemia, 4-Hydroxyphenylpyruvi... |
OMIM:617156 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Failure to thrive, Recurrent urinary tract infections, Otitis media, Inguinal hernia, Hydronephro... |
OMIM:612541 |
| Yellow Fever |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperbilirubinemia, R... |
ORPHA:99829 |
| 7Q11.23 Microduplication Syndrome |
|
Unilateral renal agenesis, Hypospadias, Tracheomalacia, Obesity, Congenital diaphragmatic hernia,... |
ORPHA:96121 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hydronephrosis, Duplicated collecting system, Ureteropelvic junction obstruction |
OMIM:280000 |
| Trisomy 18 |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Hydronephrosis, Abnormality of the uppe... |
ORPHA:3380 |
| Bardet-Biedl Syndrome 17 |
|
Obesity, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis |
OMIM:615994 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Recurrent pneumonia, Male urethral meatus stenosis, Contracture of the proximal interphalangeal j... |
ORPHA:464738 |
| Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Atopic dermatitis, Failure to thrive, Hydronephrosis, Hyperextensibility of the finge... |
OMIM:115150 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Cryohydrocytosis |
|
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185020 |
| Stromme Syndrome |
|
Hydronephrosis, Bilateral renal hypoplasia |
OMIM:243605 |
| Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Increased connective tissue, Poikilocytosis, Unconjugated hyperbilirub... |
ORPHA:79277 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hydronephrosis, Renal dysplasia, Joint hypermobility |
OMIM:300968 |
| Autoimmune Hepatitis |
|
Viral hepatitis, Increased total bilirubin, Ascites, Splenomegaly, Sclerosing cholangitis, Cirrho... |
ORPHA:2137 |
| White-Kernohan Syndrome |
|
Hydroureter, Horseshoe kidney, Recurrent otitis media, Obesity, Joint hypermobility, Hydronephrosis |
OMIM:619426 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Monosomy 9P |
|
Hypospadias, Congenital diaphragmatic hernia, Ureteropelvic junction obstruction |
ORPHA:261112 |
| Sepsis In Premature Infants |
|
Oliguria, Reversible renal failure, Leukocytosis, Splenomegaly, Decreased body weight, Hepatomega... |
ORPHA:90051 |
| Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Abnormal dental enamel morphology, Renal insufficiency, Proteinuria... |
ORPHA:2750 |
| Meckel Syndrome, Type 2 |
|
Renal cyst, Bile duct proliferation, Omphalocele |
OMIM:603194 |
| Machado-Joseph Disease |
|
Distal amyotrophy, Urinary bladder sphincter dysfunction |
OMIM:109150 |
| Wiskott-Aldrich Syndrome |
|
Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Hype... |
ORPHA:906 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Acute kidney injury, Nephronophthisis, Hepatic fibrosis, Failure to thrive, Umbilical... |
OMIM:266920 |
| Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceri... |
OMIM:615947 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... |
ORPHA:90044 |
| Glycogen Storage Disease Ixc |
|
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, Hepatomegaly, ... |
OMIM:613027 |
| Cockayne Syndrome Type 3 |
|
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,... |
ORPHA:90324 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Cranial hyperostosis, Ascites, Hepatosplenomegaly, Pancytopenia, Le... |
OMIM:259720 |
| Incontinentia Pigmenti |
|
Eosinophilia, Leukocytosis, Scarring |
OMIM:308300 |
| Degcags Syndrome |
|
Chronic kidney disease, Osteopenia, Renal hypoplasia, Pneumonia, Bilateral renal dysplasia, Bilat... |
OMIM:619488 |
| Opitz Gbbb Syndrome |
|
Abnormality of the urinary system, Tracheomalacia, Umbilical hernia, Vesicoureteral reflux, Conge... |
ORPHA:2745 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Failure to thrive, Hepatic steatosis, Splenomegaly, Elevated circulating creatine kin... |
OMIM:613327 |
| Foodborne Botulism |
|
Urinary retention |
ORPHA:228371 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Failure to thrive, Hyperbilirubin... |
OMIM:613812 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:247262 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatit... |
OMIM:620565 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Renal agenesis, Umbilical hernia, Hydronephrosis, Micropenis, Hypospadias |
OMIM:301040 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Flexion contracture of toe, Recurrent aspiration pneumonia, Abnormal renal collecting system morp... |
ORPHA:280633 |
| Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Galactosuria, Hepatic fibrosis, Hypermethioninemia, Increased circulating iron c... |
OMIM:222470 |
| Diamond-Blackfan Anemia 1 |
|
Renal hypoplasia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin... |
OMIM:105650 |
| Cousin Syndrome |
|
Joint contracture of the hand, Humeroradial synostosis, Hydronephrosis, Wrist flexion contracture... |
OMIM:260660 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Vesicoureter... |
OMIM:617394 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Duplicated collecting system, Hydroureter, Ureterocele, Megacystis, Renal agenesis, Vesicouretera... |
OMIM:604292 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... |
ORPHA:158048 |
| Craniofacioskeletal Syndrome |
|
Hydronephrosis, Hypospadias, Hypocalcemia |
OMIM:300712 |
| Oeis Complex |
|
Duplicated collecting system, Hydroureter, Vesicovaginal fistula, Renal agenesis, Hydronephrosis,... |
OMIM:258040 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Horseshoe kidney, Renal cyst, Craniosynostosis, Inguinal hernia |
ORPHA:166035 |
| Meckel Syndrome, Type 5 |
|
Renal cyst, Bile duct proliferation |
OMIM:611561 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Neonatal hyperbilirubinemia, Vesicovaginal fistula, Ureteropelvic junction obstruction |
OMIM:300896 |
| Biotinidase Deficiency |
|
Organic aciduria, Eczematoid dermatitis, Skin rash, Hyperammonemia, Conjunctivitis |
ORPHA:79241 |
| Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade... |
ORPHA:100026 |
| Isolated Biliary Atresia |
|
Periportal fibrosis, Small for gestational age, Failure to thrive, Cholestasis, Atretic gallbladd... |
ORPHA:30391 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Peritonitis, Fetal megacystis |
OMIM:619351 |
| Listeriosis |
|
Pneumonia, Acute kidney injury, Arteritis, Stiff neck, Osteomyelitis, Pyelonephritis, Cholecystit... |
ORPHA:533 |
| Okamoto Syndrome |
|
Urinary incontinence, Hydronephrosis, Unilateral renal hypoplasia, Ureteropelvic junction obstruc... |
ORPHA:2729 |
| Parkinson Disease 1, Autosomal Dominant |
|
Urinary urgency |
OMIM:168601 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Nephrocalcinosis, Abnormality of the urinary system, Obesity, Renal cyst, Hypercalciu... |
ORPHA:369837 |
| Bardet-Biedl Syndrome |
|
Chronic kidney disease, Inflammation of the large intestine, Decreased HDL cholesterol concentrat... |
ORPHA:110 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Monosomy 22Q13.3 |
|
Umbilical hernia, Obesity, Recurrent pyelonephritis, Vesicoureteral reflux, Hydronephrosis, Recur... |
ORPHA:48652 |
| 3Mc Syndrome 1 |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hydronephrosis, Radioulnar synostosis, Omp... |
OMIM:257920 |
| Adrenomyeloneuropathy |
|
Leg muscle stiffness, Urinary retention, Urinary bladder sphincter dysfunction, Distal lower limb... |
ORPHA:139399 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Ascites, Splenomegaly, Cardiomegaly, Eosinophilia, Cachexia, Hepatomegaly |
ORPHA:75565 |
| Spinocerebellar Ataxia 1 |
|
Distal amyotrophy, Skeletal muscle atrophy, Urinary bladder sphincter dysfunction |
OMIM:164400 |
| Traboulsi Syndrome |
|
Homocystinuria, Joint hypermobility |
OMIM:601552 |
| Hereditary Fructose Intolerance |
|
Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
| Cushing Disease |
|
Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Dorsocervica... |
ORPHA:96253 |
| Familial Mediterranean Fever |
|
Renal amyloidosis, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Peritonitis, Eleva... |
OMIM:249100 |
| Addison Disease |
|
Failure to thrive, Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Decreased u... |
ORPHA:85138 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hyperammonemia, Hepatome... |
OMIM:618641 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis |
OMIM:617441 |
| Aspartylglucosaminuria |
|
Umbilical hernia, Joint stiffness, Aspartylglucosaminuria, Abnormal cortical bone morphology, Ing... |
ORPHA:93 |
| Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Abnormality of the ureter, Abnormality of the bladder, Hypospadias, Ep... |
ORPHA:3339 |
| Mcleod Syndrome |
|
Acanthocytosis, Splenomegaly, Reduced haptoglobin level, Elevated circulating creatine kinase con... |
OMIM:300842 |
| Eec Syndrome |
|
Keratitis, Abnormal dental enamel morphology, Vesicoureteral reflux, Renal hypoplasia/aplasia, Hy... |
ORPHA:1896 |
| Cranioectodermal Dysplasia 2 |
|
Portal fibrosis, Biliary cirrhosis, Polysplenia, Cholestasis, Hyperbilirubinemia, Renal insuffici... |
OMIM:613610 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hydronephrosis, Vesicoureteral reflux, Nephrolithiasis |
ORPHA:438213 |
| Pelizaeus-Merzbacher Disease |
|
Urinary urgency |
OMIM:312080 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormality of the urinary system, Recurrent urinary tract infections, Vesicoureteral reflux, Nep... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormality of the urinary system, Recurrent urinary tract infections, Vesicoureteral reflux, Nep... |
ORPHA:353277 |
| Osteogenesis Imperfecta |
|
Flexion contracture, Hypercalciuria, Nephrolithiasis |
ORPHA:666 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Generalized lipodystrophy, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomega... |
OMIM:619183 |
| Cornelia De Lange Syndrome 1 |
|
Pneumonia, Renal hypoplasia, Elbow flexion contracture, Reduced renal corticomedullary differenti... |
OMIM:122470 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Ankle flexion contracture, Long penis, Horseshoe kidney, Elbow flexion contract... |
OMIM:268300 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
| Meckel Syndrome, Type 6 |
|
Hepatic fibrosis, Aplasia of the bladder, Horseshoe kidney, Absent gallbladder, Hepatic cysts, Re... |
OMIM:612284 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu... |
OMIM:127550 |
| Holoprosencephaly 3 |
|
Hydronephrosis |
OMIM:142945 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Failure to thrive in infancy, Multicystic kidney dysplasia |
OMIM:618829 |
| Familial Tumoral Calcinosis |
|
Hepatomegaly, Nephrocalcinosis, Hyperostosis, Splenomegaly |
ORPHA:53715 |
| Tenorio Syndrome |
|
Macroglossia, Enuresis |
OMIM:616260 |
| Mosaic Trisomy 1 |
|
Camptodactyly of finger, Elbow flexion contracture, Renal cortical cysts, Penile hypospadias, Con... |
ORPHA:1692 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormality of the ureter, Hypospadias, Congenital diaphragmatic hernia, Camptodactyly of finger |
ORPHA:2311 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Tarp Syndrome |
|
Horseshoe kidney, Hydronephrosis, Failure to thrive |
ORPHA:2886 |
| Scalp-Ear-Nipple Syndrome |
|
Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t... |
ORPHA:2036 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Umbilical hernia, Atrophic scars, Joint hypermobility, Hydronephrosis, Generalized joint hypermob... |
OMIM:601776 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Dentinogenesis imperfecta, Decreased calvarial ossification, Hydronephrosis, Multiple... |
OMIM:610682 |
| Gabriele-De Vries Syndrome |
|
Distal lower limb amyotrophy, Ureteropelvic junction obstruction, Hydronephrosis, Distal arthrogr... |
ORPHA:506358 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Abnormal mesentery morphology, Abnormality of the gallbladder, Cong... |
ORPHA:2075 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Renal hypoplasia, Failure to thrive, Microphallus, Vesicoureteral reflux, Pelvic kidney |
OMIM:603467 |
| Neuroleptic Malignant Syndrome |
|
Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Aspiration pneumonia, Hypocalcemia, Hyper... |
ORPHA:94093 |
| Fryns Syndrome |
|
Joint contracture of the hand, Renal agenesis, Large for gestational age, Hydronephrosis, Renal c... |
OMIM:229850 |
| Cardiofaciocutaneous Syndrome |
|
Hydronephrosis, Failure to thrive in infancy |
ORPHA:1340 |
| Femoral-Facial Syndrome |
|
Abnormal renal collecting system morphology, Renal agenesis, Camptodactyly of finger, Inguinal he... |
OMIM:134780 |
| Meckel Syndrome, Type 4 |
|
Renal cyst, Bile duct proliferation |
OMIM:611134 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Leukemia, Nephroblastoma, Renal cyst, Micropenis, Hypospadias, Smal... |
OMIM:257300 |
| Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
| Trisomy 8P |
|
Nephrocalcinosis, Multiple joint contractures, Hydronephrosis, Hernia, Micropenis, Fetal pyelectasis |
ORPHA:264450 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hypercalciuria, Nephrolithiasis |
ORPHA:652 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Congenital Alveolar Capillary Dysplasia |
|
Hydronephrosis |
ORPHA:210122 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Unilateral renal agenesis, Inguinal hernia, Hydronephrosis, Camptodactyly, Flexion contracture, H... |
ORPHA:487796 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Duplicated collecting system, Hydroureter, Ureterocele, Renal agenesis, Vesicoureteral reflux, Hy... |
OMIM:129900 |
| Ileal Neuroendocrine Tumor |
|
Hydronephrosis, Weight loss |
ORPHA:100078 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Hyperlipi... |
ORPHA:567983 |
| Nijmegen Breakage Syndrome |
|
Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Hydronephrosis, ... |
OMIM:251260 |
| Friedreich Ataxia |
|
Hand muscle atrophy, Urinary bladder sphincter dysfunction |
ORPHA:95 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... |
OMIM:613470 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Ja... |
ORPHA:90033 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Thauvin-Robinet-Faivre Syndrome |
|
Bifid ureter, Large for gestational age, Transient neutropenia, Inguinal hernia, Nephroblastoma, ... |
OMIM:617107 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Increased subcutaneous truncal adipose tissue, Failure to thrive, Recurrent urinary t... |
ORPHA:3455 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Coronal craniosynostosis, Failure to thrive, Eczematoid dermatitis, Contracture of the distal int... |
ORPHA:83617 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia |
OMIM:220500 |
| Simpson-Golabi-Behmel Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Camptodactyly of finger, Umbilical hernia, Congenital ... |
ORPHA:373 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormality of the urinary system, Hydroureter, Rickets, Osteomalacia, Hydronephrosis... |
ORPHA:2636 |
| Dubowitz Syndrome |
|
Eczematoid dermatitis, Joint hypermobility, Hydronephrosis, Craniosynostosis, Hypospadias |
ORPHA:235 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Tracheomalacia, Eczematoid dermatitis, Recurrent urinary tract infections, Recurrent otitis media... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Tracheomalacia, Eczematoid dermatitis, Recurrent urinary tract infections, Recurrent otitis media... |
ORPHA:363958 |
| Hepatoerythropoietic Porphyria |
|
Osteopenia, Red-brown urine, Purple urine, Erythroid hyperplasia, Abnormal circulating porphyrin ... |
ORPHA:95159 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Failure to thrive, Horseshoe kidney, Abnormality of... |
ORPHA:2538 |
| Kabuki Syndrome 1 |
|
Hydronephrosis, Crossed fused renal ectopia, Ureteropelvic junction obstruction, Micropenis |
OMIM:147920 |
| Aspartylglucosaminuria |
|
Pathologic fracture, Aspartylglucosaminuria, Joint hypermobility, Hernia, Acne |
OMIM:208400 |
| Atelosteogenesis Type I |
|
Absent or minimally ossified vertebral bodies, Abnormal ossification involving the femoral head a... |
ORPHA:1190 |
| Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myelofibrosis, Myelop... |
OMIM:254450 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive, Obesity, Congenital diaphragmatic hernia, Cranio... |
ORPHA:261197 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Lambdoidal craniosynostosis, Osteopenia, Vesicoureteral reflux, Joint hypermobility, Hydronephros... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Lambdoidal craniosynostosis, Osteopenia, Vesicoureteral reflux, Joint hypermobility, Hydronephros... |
ORPHA:352665 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hepatomegaly, Inc... |
OMIM:232300 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Exocrine pancreatic ... |
OMIM:619418 |
| Autosomal Recessive Robinow Syndrome |
|
Multicystic kidney dysplasia, Synostosis of carpal bones, Camptodactyly of finger, Umbilical hern... |
ORPHA:1507 |
| Mesomelia-Synostoses Syndrome |
|
Tarsometatarsal synostosis, Hydronephrosis, Carpometacarpal synostosis, Metacarpal synostosis, Pa... |
OMIM:600383 |
| Digeorge Syndrome |
|
Unilateral renal agenesis, Recurrent pneumonia, Umbilical hernia, Recurrent otitis media, Obesity... |
OMIM:188400 |
| Robinow Syndrome |
|
Webbed penis, Multicystic kidney dysplasia, Umbilical hernia, Hydronephrosis, Fused thoracic vert... |
ORPHA:97360 |
| Primary Sclerosing Cholangitis |
|
Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Weight loss, Hepat... |
ORPHA:171 |
| Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Failure to thrive |
ORPHA:2115 |
| Alagille Syndrome |
|
Abnormality of the ureter, Nephrotic syndrome, Renal hypoplasia/aplasia |
ORPHA:52 |
| Sotos Syndrome |
|
Ankle flexion contracture, Renal agenesis, Renal insufficiency, Vesicoureteral reflux, Ureteropel... |
ORPHA:821 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto... |
OMIM:615688 |
| Short-Rib Thoracic Dysplasia 12 |
|
Renal hypoplasia, Periportal fibrosis, Ascites, Splenomegaly, Inguinal hernia, Omphalocele, Hepat... |
OMIM:269860 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hydroureter, Failure to thrive, Eczematoid dermatitis, Camptodactyly of finger, Keratitis, Abnorm... |
ORPHA:2273 |
| Chime Syndrome |
|
Hydronephrosis, Osteolysis, Abnormality of the kidney |
ORPHA:3474 |
| Hereditary Hemorrhagic Telangiectasia |
|
Hematuria, Nephrolithiasis |
ORPHA:774 |
| Scalp-Ear-Nipple Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Renal insufficiency, Multiple lipomas |
OMIM:181270 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Pollakisuria, Urinary bladder sphincter dysfunction |
ORPHA:93256 |
| 2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Umbilical hernia, Obesity, Congenital diaphragmatic hernia, Nephrob... |
ORPHA:1001 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydronephrosis, Multicystic kidney dysplasia, Micropenis, Elevated circulating creatine kinase co... |
OMIM:615287 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Stomatocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Hepatomegaly, Jaundice, Hyperkalemia... |
OMIM:608885 |
| Tuberous Sclerosis 1 |
|
Dental enamel pits, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Renal cyst, Renal cell ... |
OMIM:191100 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Coarse metaphyseal trabecularization, Failure to thrive, Umbilical hernia, Splenomega... |
ORPHA:955 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys |
OMIM:620047 |
| Autosomal Dominant Cutis Laxa |
|
Unilateral renal agenesis, Osteopenia, Pyelonephritis, Inguinal hernia, Joint hypermobility, Hern... |
ORPHA:90348 |
| Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... |
ORPHA:86843 |
| Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Tracheomalacia, Failure to thrive, Contracture of the distal int... |
OMIM:114290 |
| Gaucher Disease |
|
Pancytopenia, Hematuria, Cirrhosis, Hepatomegaly, Elevated circulating C-reactive protein concent... |
ORPHA:355 |
| Hereditary Late-Onset Parkinson Disease |
|
Spastic/hyperactive bladder, Hypomimic face |
ORPHA:411602 |
| Joubert Syndrome 14 |
|
Renal cyst |
OMIM:614424 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
| Von Hippel-Lindau Syndrome |
|
Polycythemia, Multiple renal cysts, Renal cell carcinoma, Hepatic hemangioma, Epididymal cyst, Pa... |
OMIM:193300 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Enuresis nocturna, Foot dorsiflexor weakness, Urinary incontinence, Pollakisuria, Lower limb hype... |
ORPHA:171629 |
| Bartter Syndrome, Type 1, Antenatal |
|
Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Renal potassium wasting, ... |
OMIM:601678 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased circulating cortisol level, Abnormal lymph node morphology, Increased urinary cortisol ... |
ORPHA:99889 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:3404 |
| Wolfram Syndrome |
|
Nephropathy, Abnormality of the urinary system, Recurrent urinary tract infections, Myopathy, Dys... |
ORPHA:3463 |
| Peutz-Jeghers Syndrome |
|
Abnormality of the ureter, Bladder polyp |
OMIM:175200 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Horseshoe kidney, Renal cyst, Craniosynostosis |
OMIM:250410 |
| Dextrocardia |
|
Abnormality of the ureter, Abnormal renal morphology |
ORPHA:1666 |
| Floating-Harbor Syndrome |
|
Atopic dermatitis, Nephrocalcinosis, Ivory epiphyses of the distal phalanges of the hand, Glandul... |
OMIM:136140 |
| Hennekam Syndrome |
|
Camptodactyly of finger, Horseshoe kidney, Lymphopenia, Ascites, Splenomegaly, Hypocalcemia, Lymp... |
ORPHA:2136 |
| Knobloch Syndrome 1 |
|
Bifid ureter, Renal duplication, Joint hypermobility, Hydronephrosis, Duplicated collecting system |
OMIM:267750 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Renal artery stenosis, Hyperlipidemia, Renal steatosis, ... |
ORPHA:391665 |
| Eisenmenger Syndrome |
|
Abnormal circulating B-type natriuretic peptide concentration, Increased mean corpuscular volume,... |
ORPHA:97214 |
| 17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Renal hypoplasia/aplasia, Pancrea... |
ORPHA:261265 |
| Joubert Syndrome 21 |
|
Renal cyst, Splenomegaly, Hyperechogenic kidneys |
OMIM:615636 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Polycythemia, Micronodular cirrhosis, Increased to... |
ORPHA:309854 |
| Cardiac Valvular Dysplasia 1 |
|
Hydronephrosis, Inguinal hernia, Hydroureter, Urethral diverticulum |
OMIM:212093 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Aciduria, Tracheomalacia, Failure to thrive, 3-Methylglutaconic aciduria, Osteoporosis, Ethylmalo... |
OMIM:203700 |
| Tuberous Sclerosis 2 |
|
Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Renal cyst, Renal cell carcinoma, Absence o... |
OMIM:613254 |
| Tetrasomy 9P |
|
Recurrent urinary tract infections, Horseshoe kidney, Abnormal dental enamel morphology, Umbilica... |
ORPHA:3310 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Renal hypoplasia, Abnormal pelvis bone ossification, Absent or minimally ossified vertebral bodie... |
ORPHA:93271 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Ascites, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic sys... |
ORPHA:538 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Quadriceps muscle weakness, Shoulder girdle muscle weakness, Nocturia, Limb muscle weakness, Faci... |
ORPHA:254892 |
| Joubert Syndrome 1 |
|
Nephropathy, Renal cyst, Hepatic fibrosis |
OMIM:213300 |
| Viss Syndrome |
|
Failure to thrive, Umbilical hernia, Hypereosinophilia, Inguinal hernia, Contracture of the proxi... |
OMIM:619472 |
| Brucellosis |
|
Granuloma, Failure to thrive, Intrarenal abscess, Leukopenia, Hypersplenism, Leukocytosis, Spleno... |
ORPHA:1304 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Cutaneous abscess, Increased hepatic echogenicity, Eosinophilia, Craniosynostosis, Re... |
OMIM:147060 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Arachnoid Cyst |
|
Urinary incontinence, Facial palsy, Lower limb muscle weakness, Urinary bladder sphincter dysfunc... |
ORPHA:2356 |
| Superficial Siderosis |
|
Functional abnormality of the bladder, Lower limb muscle weakness |
ORPHA:247245 |
| Jacobsen Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Inguinal hernia, Eczematoid dermatitis |
ORPHA:2308 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
| Hyper-Igd Syndrome |
|
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve... |
OMIM:260920 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Renal cyst, Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Renal m... |
OMIM:277000 |
| Fraser Syndrome 2 |
|
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... |
OMIM:617666 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hyperlipidemia, Splenomegaly, Renal artery atherosclerosis, Elevated circulating creatine kinase ... |
ORPHA:565612 |
| Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Hematuria, Proteinuria, Hepatomegaly, Thrombocytopenia, Anemia, Incre... |
ORPHA:77261 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Renal cyst, Renal hypoplasia, Unicoronal synostosis, Omphalocele |
OMIM:616300 |
| Lacrimoauriculodentodigital Syndrome |
|
Renal hypoplasia, Abnormal dental enamel morphology, Vesicoureteral reflux, Hydronephrosis, Kerat... |
ORPHA:2363 |
| 1P36 Deletion Syndrome |
|
Failure to thrive, Camptodactyly of finger, Obesity, Joint stiffness, Hydronephrosis, Renal cyst,... |
ORPHA:1606 |
| Neutral Lipid Storage Disease With Myopathy |
|
Chronic pancreatitis, Hepatic steatosis, Splenomegaly, Elevated circulating creatine kinase conce... |
OMIM:610717 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Cholelithiasis, Abnormal circulating lipid concentration, Decreased HDL cholesterol c... |
ORPHA:77293 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the ureter |
ORPHA:3253 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Recurrent pneumonia, Eczematoid dermatitis, Umbilical hernia, Hypocalcemia, Joint hypermobility, ... |
OMIM:620330 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Chronic kidney disease, Renal amyloidosis, Abnormality of the urinary system, IgA deposition in t... |
ORPHA:79408 |
| Arboleda-Tham Syndrome |
|
Recurrent urinary tract infections, Recurrent otitis media, Hydronephrosis, Conjunctivitis, Crani... |
OMIM:616268 |
| Familial Adenomatous Polyposis 4 |
|
Renal cyst, Ovarian cyst |
OMIM:617100 |
| Charge Syndrome |
|
Umbilical hernia, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Omphalocele, Micropeni... |
ORPHA:138 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Splenomegaly, Hepatomegaly, Osteopetrosis, Anemia, Hypocalce... |
OMIM:612301 |
| Scorpion Envenomation |
|
Acute kidney injury, Ketonuria, Glycosuria, Hypokalemia, Increased circulating creatine kinase MB... |
ORPHA:466677 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatic fibrosis, Failure to thrive, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly,... |
OMIM:620376 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Abnormally ossified vertebrae |
ORPHA:3301 |
| Thyrotoxic Periodic Paralysis |
|
Urinary retention, Lower limb muscle weakness, Rhabdomyolysis, Decreased urinary potassium, Incre... |
ORPHA:79102 |
| Pagod Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the spleen, Congenital diaphragmatic hernia, Renal h... |
ORPHA:991 |
| Isolated Posterior Meningocele |
|
Enuresis |
ORPHA:268810 |
| Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... |
ORPHA:79500 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Renal cyst, Ovarian dermoid cyst |
ORPHA:480536 |
| Ellis Van Creveld Syndrome |
|
Hydroureter, Abnormality of the ureter, Renal hypoplasia/aplasia, Abnormality of the kidney, Hypo... |
ORPHA:289 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal cyst, Renal dysplasia |
OMIM:617260 |
| Rubinstein-Taybi Syndrome 1 |
|
Keloids, Failure to thrive, Joint hypermobility, Hydronephrosis, Enamel hypoplasia, Truncal obesi... |
OMIM:180849 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Renovascular hypertension, Functional abnormality of the bladder, Renal artery stenosis |
ORPHA:391487 |
| Coffin-Siris Syndrome 1 |
|
Renal hypoplasia, Hydroureter, Umbilical hernia, Congenital diaphragmatic hernia, Inguinal hernia... |
OMIM:135900 |
| Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis |
OMIM:611804 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Dilatation of the renal pelvis, Hydroureter, Dilatation of the bladder, Hydronephrosis, Omphaloce... |
OMIM:265380 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Flexion contracture, Urinary urgency, Urinary retention, Recurrent urinary tract infections |
ORPHA:99027 |
| Meckel Syndrome |
|
Accessory spleen, Multicystic kidney dysplasia, Pancreatic cysts, Congenital hepatic fibrosis, Ur... |
ORPHA:564 |
| Acute Transverse Myelitis |
|
Upper limb muscle weakness, Urinary retention, Urinary bladder sphincter dysfunction, Distal lowe... |
ORPHA:139417 |
| Parkinson Disease 14, Autosomal Recessive |
|
Hypomimic face, Nocturia |
OMIM:612953 |
| Histiocytoid Cardiomyopathy |
|
Failure to thrive, Polycystic ovaries, Cardiomegaly, Renal cyst, Hepatomegaly |
ORPHA:137675 |
| Craniofacial Microsomia 1 |
|
Hypoplasia of facial musculature, Multicystic kidney dysplasia, Renal agenesis, Vesicoureteral re... |
OMIM:164210 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Umbilical hernia, Inguinal hernia, Limited elbow extension and supination, Renal duplication, Hyd... |
OMIM:180700 |
| Focal Dermal Hypoplasia |
|
Umbilical hernia, Horseshoe kidney, Bifid ureter, Congenital diaphragmatic hernia, Inguinal herni... |
OMIM:305600 |
| Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Splenomegaly, Hepatomegaly,... |
ORPHA:50918 |
| Johanson-Blizzard Syndrome |
|
Small for gestational age, Failure to thrive, Hypocalcemia, Increased VLDL cholesterol concentrat... |
OMIM:243800 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Joint hypermobility, Hydronephrosis, Abnormal renal morphology, Renal hypoplasia/aplasia, Sinusit... |
ORPHA:363700 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:3015 |
| Von Hippel-Lindau Disease |
|
Polycythemia, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Multiple renal... |
ORPHA:892 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Cellulitis, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopath... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Cellulitis, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopath... |
OMIM:233710 |
| Peters-Plus Syndrome |
|
Renal hypoplasia, Umbilical hernia, Decreased body weight, Hydronephrosis, Limited elbow movement... |
OMIM:261540 |
| Sacral Defect With Anterior Meningocele |
|
Neurogenic bladder, Urinary retention |
OMIM:600145 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Cellulitis, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopath... |
OMIM:233690 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Ascites, Nephroblastoma, Acute lymphoblastic leukemia, Osteolysis |
ORPHA:1052 |
| Peters Plus Syndrome |
|
Multicystic kidney dysplasia, Umbilical hernia, Inguinal hernia, Renal duplication, Renal hypopla... |
ORPHA:709 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Failure to thrive, Hyperammonemia, Inguinal hernia, Hypospadias, Small for gestational... |
OMIM:220111 |
| Cutis Marmorata Telangiectatica Congenita |
|
Ascites, Multicystic kidney dysplasia, Reduced bone mineral density, Displacement of the urethral... |
ORPHA:1556 |
| Reynolds Syndrome |
|
Biliary cirrhosis, Cholestasis, Lymphopenia, Hyperbilirubinemia, Splenomegaly, Calcinosis, Hepato... |
OMIM:613471 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Macroglossia, Enuresis |
ORPHA:369950 |
| Otopalatodigital Syndrome, Type Ii |
|
Elbow contracture, Umbilical hernia, Sclerosis of skull base, Hydronephrosis, Omphalocele, Nonoss... |
OMIM:304120 |
| Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Joint contracture of the hand, Craniofacial osteosclerosis, Failure... |
OMIM:300373 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Failure to thrive, Recurrent otitis media, Inguinal hernia, Decreased body weight, Hydronephrosis... |
OMIM:616462 |
| Charge Syndrome |
|
Renal hypoplasia, Renal agenesis, Umbilical hernia, Horseshoe kidney, Hypocalcemia, Hydronephrosi... |
OMIM:214800 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypoalbuminemia, Reduced natural killer cell count, Hepatitis, Osteomalacia, Decreased proportion... |
OMIM:619381 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Renal cyst, Vesicoureteral reflux, Hypospadias, Annular pancreas |
OMIM:616975 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Limitation of joint mobility, Joint hypermobility, Hydronephrosis, Hyperextensible th... |
ORPHA:480880 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Hip contracture, Knee flexion contracture, Hydronephrosis, Radiouln... |
OMIM:606170 |
| Hydrolethalus Syndrome 1 |
|
Hydronephrosis, Hypospadias, Omphalocele |
OMIM:236680 |
| Trisomy 10P |
|
Absent gallbladder, Multiple renal cysts, Abnormality of the kidney, Camptodactyly, Small for ges... |
ORPHA:171929 |
| Steinert Myotonic Dystrophy |
|
Cholelithiasis, Hypercholesterolemia |
ORPHA:273 |
| Cerebrocostomandibular Syndrome |
|
Horseshoe kidney, Elbow flexion contracture, Renal cyst, Calcaneal epiphyseal stippling, Ectopic ... |
OMIM:117650 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Renal cyst, Enamel hypoplasia, Inguinal hernia |
OMIM:272460 |
| Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Failure to thrive, Congenital diaphragmatic hernia, Micropenis, Abn... |
ORPHA:1596 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Webbed penis, Multicystic kidney dysplasia, Failure to thrive, Recurrent otitis media, Vesicouret... |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Webbed penis, Multicystic kidney dysplasia, Recurrent otitis media, Vesicoureteral reflux, Renal ... |
ORPHA:2152 |
| Dermatomyositis |
|
Cellulitis, Abnormal eosinophil morphology, Chondrocalcinosis, Elevated circulating creatine kina... |
ORPHA:221 |
| Williams-Beuren Syndrome |
|
Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Flexion contracture, Rena... |
OMIM:194050 |
| Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Webbed penis, Multicystic kidney dysplasia, Duplication of renal pelvis, Failure to thrive, Recur... |
ORPHA:261552 |
| Congenital Tracheal Stenosis |
|
Abnormality of the ureter, Abnormality of the kidney |
ORPHA:141127 |
| C Syndrome |
|
Multicystic kidney dysplasia, Horseshoe kidney, Failure to thrive in infancy, Congenital diaphrag... |
ORPHA:1308 |
| Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:1393 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Renal cyst, Hypospadias |
ORPHA:495875 |
| Pmm2-Cdg |
|
Hypoalbuminemia, Osteopenia, Hepatic fibrosis, Failure to thrive, Multiple joint contractures, Re... |
ORPHA:79318 |
| Branchiooculofacial Syndrome |
|
Atypical scarring of skin, Renal agenesis, Elbow flexion contracture, Ectopic thymus tissue, Rena... |
OMIM:113620 |
| Townes-Brocks Syndrome 1 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Small for gestational age, Umbilical hernia, Vesi... |
OMIM:107480 |
| Townes-Brocks Syndrome |
|
Renal hypoplasia, Failure to thrive, Renal insufficiency, Vesicoureteral reflux, Multiple renal c... |
ORPHA:857 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Enuresis |
ORPHA:293987 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Unilateral renal agenesis, Arthrogryposis multiplex congenita, Elbow flexion contracture, Foot do... |
OMIM:619503 |
| Cornelia De Lange Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive, Vesicoureteral reflux, Renal insufficiency, Cong... |
ORPHA:199 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal agenesis, Umbilical hernia, Inguin... |
OMIM:308205 |
| Alström Syndrome |
|
Chronic kidney disease, Detrusor sphincter dyssynergia, Functional abnormality of the bladder, Ur... |
ORPHA:64 |
| Pallister-Killian Syndrome |
|
Camptodactyly of 2nd-5th fingers, Umbilical hernia, Obesity, Congenital diaphragmatic hernia, Ing... |
OMIM:601803 |
